| NM_003482.4(KMT2D):c.8059C>T (p.Arg2687Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659761]|not provided [RCV000519716] |
Chr12:49039605 [GRCh38]
Chr12:49433388 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.13833_13837dup (p.Lys4613fs) |
duplication |
Kabuki syndrome [RCV000542337] |
Chr12:49030602..49030603 [GRCh38]
Chr12:49424385..49424386 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8207_8210dup (p.Pro2738fs) |
duplication |
Kabuki syndrome [RCV000543078] |
Chr12:49039453..49039454 [GRCh38]
Chr12:49433236..49433237 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11223_11234del (p.Gln3742_Gln3745del) |
deletion |
Kabuki syndrome [RCV001862118]|not provided [RCV000722450] |
Chr12:49033471..49033482 [GRCh38]
Chr12:49427254..49427265 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.303dup (p.Ser102fs) |
duplication |
Kabuki syndrome [RCV002525171]|not provided [RCV000522326] |
Chr12:49054624..49054625 [GRCh38]
Chr12:49448407..49448408 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16052G>A (p.Arg5351Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261319]|Kabuki syndrome [RCV000544912] |
Chr12:49024578 [GRCh38]
Chr12:49418361 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15854C>G (p.Pro5285Arg) |
single nucleotide variant |
not provided [RCV000519625] |
Chr12:49024877 [GRCh38]
Chr12:49418660 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14360_14361del (p.Thr4787fs) |
microsatellite |
Kabuki syndrome [RCV000542138] |
Chr12:49028849..49028850 [GRCh38]
Chr12:49422632..49422633 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=) |
single nucleotide variant |
Kabuki syndrome [RCV001520766]|not provided [RCV001637061]|not specified [RCV000517544] |
Chr12:49032609 [GRCh38]
Chr12:49426392 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.12985C>T (p.Gln4329Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000548396] |
Chr12:49031720 [GRCh38]
Chr12:49425503 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3180_3181delinsTT (p.Lys1060_Val1061delinsAsnLeu) |
indel |
Kabuki syndrome [RCV002055344]|not specified [RCV000121378] |
Chr12:49050407..49050408 [GRCh38]
Chr12:49444190..49444191 [GRCh37]
Chr12:12q13.12 |
likely benign|not provided |
| NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=) |
single nucleotide variant |
KMT2D-related condition [RCV003965505]|Kabuki syndrome [RCV002060966]|not provided [RCV000728092] |
Chr12:49022629 [GRCh38]
Chr12:49416412 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11815C>G (p.Gln3939Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000627093]|Kabuki syndrome [RCV001415744] |
Chr12:49032890 [GRCh38]
Chr12:49426673 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003965502]|Kabuki syndrome [RCV002535051]|not provided [RCV000727922] |
Chr12:49041336 [GRCh38]
Chr12:49435119 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12878_12893del (p.Pro4293fs) |
deletion |
Kabuki syndrome 1 [RCV000758192] |
Chr12:49031812..49031827 [GRCh38]
Chr12:49425595..49425610 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2091_2094delinsTATG (p.Thr698Met) |
indel |
not provided [RCV000722523] |
Chr12:49051589..49051592 [GRCh38]
Chr12:49445372..49445375 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11718_11759dup (p.3903QQQLQQQQQLQQQQ[3]) |
duplication |
not provided [RCV000723020] |
Chr12:49032945..49032946 [GRCh38]
Chr12:49426728..49426729 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.175A>G (p.Ser59Gly) |
single nucleotide variant |
KMT2D-related condition [RCV003403285]|Kabuki syndrome [RCV000545685] |
Chr12:49054901 [GRCh38]
Chr12:49448684 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.11755C>T (p.Gln3919Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000546328] |
Chr12:49032950 [GRCh38]
Chr12:49426733 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10259T>C (p.Ile3420Thr) |
single nucleotide variant |
not provided [RCV000521859] |
Chr12:49034908 [GRCh38]
Chr12:49428691 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14829G>A (p.Glu4943=) |
single nucleotide variant |
Kabuki syndrome [RCV001519137]|not specified [RCV000518133] |
Chr12:49027137 [GRCh38]
Chr12:49420920 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10574T>C (p.Leu3525Pro) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003152606]|KMT2D-related condition [RCV003392350]|not provided [RCV000520581] |
Chr12:49034233 [GRCh38]
Chr12:49428016 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.11568GCA[6] (p.Gln3863dup) |
microsatellite |
KMT2D-related condition [RCV003925428]|Kabuki syndrome 1 [RCV000578133]|Kabuki syndrome [RCV002527121]|not provided [RCV000871526] |
Chr12:49033122..49033123 [GRCh38]
Chr12:49426905..49426906 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15920_15921insT (p.Leu5308fs) |
insertion |
Kabuki syndrome 1 [RCV000578145] |
Chr12:49024810..49024811 [GRCh38]
Chr12:49418593..49418594 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15536G>A (p.Arg5179His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000007972]|Kabuki syndrome [RCV001043636]|not provided [RCV000723481] |
Chr12:49026430 [GRCh38]
Chr12:49420213 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.13579A>T (p.Lys4527Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000007973] |
Chr12:49030985 [GRCh38]
Chr12:49424768 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001265824]|Kabuki syndrome 1 [RCV000007974]|Kabuki syndrome [RCV003588558]|not provided [RCV003147277] |
Chr12:49022332 [GRCh38]
Chr12:49416115 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16391C>T (p.Thr5464Met) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000007975]|Kabuki syndrome [RCV003588559]|not provided [RCV000153405] |
Chr12:49022301 [GRCh38]
Chr12:49416084 [GRCh37]
Chr12:12q13.12 |
pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001196769]|Kabuki syndrome [RCV002560225] |
Chr12:49052055 [GRCh38]
Chr12:49445838 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.361C>T (p.Pro121Ser) |
single nucleotide variant |
Malignant melanoma [RCV000070016] |
Chr12:49054567 [GRCh38]
Chr12:49448350 [GRCh37]
Chr12:47734617 [NCBI36]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.2771C>T (p.Ser924Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659706] |
Chr12:49050912 [GRCh38]
Chr12:49444695 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4160G>T (p.Gly1387Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659715] |
Chr12:49048041 [GRCh38]
Chr12:49441824 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4395dup (p.Lys1466fs) |
duplication |
Kabuki syndrome 1 [RCV000659718]|Kabuki syndrome [RCV001233752] |
Chr12:49046631..49046632 [GRCh38]
Chr12:49440414..49440415 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.4762G>T (p.Glu1588Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659723] |
Chr12:49044945 [GRCh38]
Chr12:49438728 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6594dup (p.Tyr2199fs) |
duplication |
Kabuki syndrome 1 [RCV000659736] |
Chr12:49041175..49041176 [GRCh38]
Chr12:49434958..49434959 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7589C>T (p.Thr2530Ile) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659756]|Kabuki syndrome [RCV001500550] |
Chr12:49040181 [GRCh38]
Chr12:49433964 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11044C>G (p.Gln3682Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659784] |
Chr12:49033661 [GRCh38]
Chr12:49427444 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11456del (p.Gly3819fs) |
deletion |
Kabuki syndrome 1 [RCV000659788] |
Chr12:49033249 [GRCh38]
Chr12:49427032 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11848C>T (p.Gln3950Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659797] |
Chr12:49032857 [GRCh38]
Chr12:49426640 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12546dup (p.Gln4183fs) |
duplication |
Kabuki syndrome 1 [RCV000659799] |
Chr12:49032158..49032159 [GRCh38]
Chr12:49425941..49425942 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13213C>T (p.Gln4405Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659805] |
Chr12:49031492 [GRCh38]
Chr12:49425275 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14722del (p.Ala4908fs) |
deletion |
Kabuki syndrome 1 [RCV000659818] |
Chr12:49027244 [GRCh38]
Chr12:49421027 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15286C>T (p.Gln5096Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659822] |
Chr12:49026680 [GRCh38]
Chr12:49420463 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4766G>A (p.Gly1589Asp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659724] |
Chr12:49044941 [GRCh38]
Chr12:49438724 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5467G>T (p.Gly1823Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659729]|Kabuki syndrome [RCV002532009] |
Chr12:49043635 [GRCh38]
Chr12:49437418 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003928153]|Kabuki syndrome 1 [RCV000659758]|not provided [RCV002255498] |
Chr12:49039837 [GRCh38]
Chr12:49433620 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8401C>T (p.Arg2801Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659764]|Kabuki syndrome [RCV002530555]|not provided [RCV000760314] |
Chr12:49038955 [GRCh38]
Chr12:49432738 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.11710C>T (p.Gln3904Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659793] |
Chr12:49032995 [GRCh38]
Chr12:49426778 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13026_13027dup (p.Thr4343fs) |
duplication |
Kabuki syndrome 1 [RCV000659804] |
Chr12:49031677..49031678 [GRCh38]
Chr12:49425460..49425461 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15731_15732del (p.Lys5244fs) |
deletion |
Kabuki syndrome 1 [RCV000659828] |
Chr12:49026234..49026235 [GRCh38]
Chr12:49420017..49420018 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5189-13G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659728]|Kabuki syndrome [RCV001479722] |
Chr12:49044011 [GRCh38]
Chr12:49437794 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5645-3C>T |
single nucleotide variant |
KMT2D-related condition [RCV003980288]|Kabuki syndrome 1 [RCV000659732]|Kabuki syndrome [RCV001459987]|not provided [RCV000911213] |
Chr12:49042881 [GRCh38]
Chr12:49436664 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13531-10T>C |
single nucleotide variant |
KMT2D-related condition [RCV003938011]|Kabuki syndrome 1 [RCV000659808]|Kabuki syndrome [RCV001446522]|not provided [RCV000872429] |
Chr12:49031043 [GRCh38]
Chr12:49424826 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14000-3C>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659810] |
Chr12:49029479 [GRCh38]
Chr12:49423262 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.50-1G>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659686] |
Chr12:49055027 [GRCh38]
Chr12:49448810 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10440+2T>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659779] |
Chr12:49034580 [GRCh38]
Chr12:49428363 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4724T>C (p.Met1575Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659722] |
Chr12:49045937 [GRCh38]
Chr12:49439720 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5058dup (p.Arg1687fs) |
duplication |
Kabuki syndrome 1 [RCV000659725] |
Chr12:49044427..49044428 [GRCh38]
Chr12:49438210..49438211 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6844del (p.Arg2282fs) |
deletion |
Kabuki syndrome 1 [RCV000659742] |
Chr12:49040926 [GRCh38]
Chr12:49434709 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6966dup (p.Thr2323fs) |
duplication |
Kabuki syndrome 1 [RCV000659744] |
Chr12:49040803..49040804 [GRCh38]
Chr12:49434586..49434587 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7366C>T (p.Arg2456Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659751]|Kabuki syndrome [RCV002530554] |
Chr12:49040404 [GRCh38]
Chr12:49434187 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7451T>C (p.Leu2484Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659753] |
Chr12:49040319 [GRCh38]
Chr12:49434102 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9595del (p.Ser3199fs) |
deletion |
Kabuki syndrome 1 [RCV000659775] |
Chr12:49037761 [GRCh38]
Chr12:49431544 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11472_11473del (p.His3824fs) |
microsatellite |
Kabuki syndrome 1 [RCV000659789] |
Chr12:49033232..49033233 [GRCh38]
Chr12:49427015..49427016 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11739del (p.Gln3913fs) |
deletion |
Kabuki syndrome 1 [RCV000659794] |
Chr12:49032966 [GRCh38]
Chr12:49426749 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12469C>T (p.Gln4157Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659798] |
Chr12:49032236 [GRCh38]
Chr12:49426019 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.14833delinsAA (p.Pro4945fs) |
indel |
Kabuki syndrome 1 [RCV000659819] |
Chr12:49027133 [GRCh38]
Chr12:49420916 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15589G>A (p.Ala5197Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659826]|Kabuki syndrome [RCV002530557] |
Chr12:49026377 [GRCh38]
Chr12:49420160 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.474_475del (p.Cys158fs) |
microsatellite |
Kabuki syndrome 1 [RCV000659691] |
Chr12:49054342..49054343 [GRCh38]
Chr12:49448125..49448126 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659697]|Kabuki syndrome [RCV001861712] |
Chr12:49051744 [GRCh38]
Chr12:49445527 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2263dup (p.Arg755fs) |
duplication |
Kabuki syndrome 1 [RCV000659702] |
Chr12:49051419..49051420 [GRCh38]
Chr12:49445202..49445203 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.2546C>A (p.Ser849Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659704] |
Chr12:49051137 [GRCh38]
Chr12:49444920 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2578_2579del (p.Leu860fs) |
deletion |
Kabuki syndrome 1 [RCV000659705] |
Chr12:49051104..49051105 [GRCh38]
Chr12:49444887..49444888 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5627_5630del (p.Asp1876fs) |
deletion |
Kabuki syndrome 1 [RCV000659731]|Kabuki syndrome [RCV001390430]|not provided [RCV001090721] |
Chr12:49043090..49043093 [GRCh38]
Chr12:49436873..49436876 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.5752C>T (p.Arg1918Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659733]|not specified [RCV001816661] |
Chr12:49042771 [GRCh38]
Chr12:49436554 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659737]|Kabuki syndrome [RCV001855389]|not provided [RCV002225705] |
Chr12:49041162 [GRCh38]
Chr12:49434945 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7136C>T (p.Ala2379Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002530553]|Kabuki syndrome 1 [RCV000659747]|Kabuki syndrome [RCV002066963] |
Chr12:49040634 [GRCh38]
Chr12:49434417 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7426G>T (p.Glu2476Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659752] |
Chr12:49040344 [GRCh38]
Chr12:49434127 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7479dup (p.Phe2494fs) |
duplication |
Kabuki syndrome 1 [RCV000659754] |
Chr12:49040290..49040291 [GRCh38]
Chr12:49434073..49434074 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8859_8861delinsCA (p.Lys2953fs) |
indel |
Kabuki syndrome 1 [RCV000659770] |
Chr12:49038495..49038497 [GRCh38]
Chr12:49432278..49432280 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8952del (p.Lys2985fs) |
deletion |
Kabuki syndrome 1 [RCV000659771] |
Chr12:49038404 [GRCh38]
Chr12:49432187 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10999C>T (p.Gln3667Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659783]|Kabuki syndrome [RCV000704753] |
Chr12:49033706 [GRCh38]
Chr12:49427489 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.12808C>T (p.Gln4270Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659803]|Kabuki syndrome [RCV003588662] |
Chr12:49031897 [GRCh38]
Chr12:49425680 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.14469del (p.Ala4824fs) |
deletion |
Kabuki syndrome 1 [RCV000659814] |
Chr12:49028055 [GRCh38]
Chr12:49421838 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16211C>G (p.Ser5404Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659831] |
Chr12:49022717 [GRCh38]
Chr12:49416500 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.5644+53G>T |
single nucleotide variant |
Lung cancer [RCV000111095] |
Chr12:49043023 [GRCh38]
Chr12:49436806 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6955dup (p.Leu2319fs) |
duplication |
Kabuki syndrome 1 [RCV000659743] |
Chr12:49040814..49040815 [GRCh38]
Chr12:49434597..49434598 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7282del (p.Arg2428fs) |
deletion |
Kabuki syndrome 1 [RCV000659748] |
Chr12:49040488 [GRCh38]
Chr12:49434271 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7291_7294del (p.Ser2431fs) |
microsatellite |
Kabuki syndrome 1 [RCV000659749] |
Chr12:49040476..49040479 [GRCh38]
Chr12:49434259..49434262 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8474_8477dup (p.Thr2827fs) |
duplication |
Kabuki syndrome 1 [RCV000659766] |
Chr12:49038878..49038879 [GRCh38]
Chr12:49432661..49432662 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8516C>G (p.Ser2839Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659767] |
Chr12:49038840 [GRCh38]
Chr12:49432623 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10378C>T (p.Gln3460Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659778] |
Chr12:49034644 [GRCh38]
Chr12:49428427 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10467G>T (p.Gln3489His) |
single nucleotide variant |
KMT2D-related condition [RCV003980289]|Kabuki syndrome 1 [RCV000659780]|Kabuki syndrome [RCV001466229]|not provided [RCV002279478] |
Chr12:49034450 [GRCh38]
Chr12:49428233 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10653dup (p.Ala3552fs) |
duplication |
Kabuki syndrome 1 [RCV000659782] |
Chr12:49034153..49034154 [GRCh38]
Chr12:49427936..49427937 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11635_11636del (p.Leu3880fs) |
microsatellite |
Kabuki syndrome 1 [RCV000659792] |
Chr12:49033069..49033070 [GRCh38]
Chr12:49426852..49426853 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.3(KMT2D):c.11756_11758dup (p.Gln3919_Leu3920insGln) |
duplication |
Kabuki syndrome 1 [RCV000659796] |
Chr12:49032947..49032949 [GRCh38]
Chr12:49426730..49426732 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659800]|Kabuki syndrome [RCV003753151] |
Chr12:49032139 [GRCh38]
Chr12:49425922 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12697C>T (p.Gln4233Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659802] |
Chr12:49032008 [GRCh38]
Chr12:49425791 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14189G>A (p.Trp4730Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659813]|not provided [RCV001268133] |
Chr12:49029123 [GRCh38]
Chr12:49422906 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.14669_14672del (p.Thr4890fs) |
deletion |
Kabuki syndrome 1 [RCV000659816] |
Chr12:49027294..49027297 [GRCh38]
Chr12:49421077..49421080 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15583C>T (p.Gln5195Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659825] |
Chr12:49026383 [GRCh38]
Chr12:49420166 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15640C>T (p.Arg5214Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659827]|Kabuki syndrome [RCV003588663] |
Chr12:49026326 [GRCh38]
Chr12:49420109 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16437del (p.Asn5480fs) |
deletion |
Kabuki syndrome 1 [RCV000659835] |
Chr12:49022127 [GRCh38]
Chr12:49415910 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.176+15G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659687]|Kabuki syndrome [RCV002536342] |
Chr12:49054885 [GRCh38]
Chr12:49448668 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659693]|Kabuki syndrome [RCV002295309] |
Chr12:49053477 [GRCh38]
Chr12:49447260 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.1301del (p.Leu434fs) |
deletion |
Kabuki syndrome 1 [RCV000659696]|not provided [RCV003140054] |
Chr12:49052382 [GRCh38]
Chr12:49446165 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3019_3020del (p.Ser1007fs) |
deletion |
Kabuki syndrome 1 [RCV000659709] |
Chr12:49050568..49050569 [GRCh38]
Chr12:49444351..49444352 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4569C>G (p.Cys1523Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659720] |
Chr12:49046274 [GRCh38]
Chr12:49440057 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.702del (p.Pro235fs) |
deletion |
Kabuki syndrome 1 [RCV000659692] |
Chr12:49053613 [GRCh38]
Chr12:49447396 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2819C>G (p.Ser940Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659707] |
Chr12:49050769 [GRCh38]
Chr12:49444552 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659708]|Kabuki syndrome [RCV003753147] |
Chr12:49050596 [GRCh38]
Chr12:49444379 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3789_3790del (p.Leu1264fs) |
deletion |
Kabuki syndrome 1 [RCV000659711] |
Chr12:49049798..49049799 [GRCh38]
Chr12:49443581..49443582 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4131G>A (p.Gln1377=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659714] |
Chr12:49048659 [GRCh38]
Chr12:49442442 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=) |
single nucleotide variant |
KMT2D-related condition [RCV003915064]|Kabuki syndrome [RCV001088718]|not provided [RCV000712309] |
Chr12:49041335 [GRCh38]
Chr12:49435118 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) |
single nucleotide variant |
Kabuki syndrome [RCV000405790]|not provided [RCV001719833]|not specified [RCV000080201] |
Chr12:49041197 [GRCh38]
Chr12:49434980 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs) |
deletion |
Kabuki syndrome 1 [RCV000146222]|Kabuki syndrome [RCV001040506]|not provided [RCV000790813] |
Chr12:49041175 [GRCh38]
Chr12:49434958 [GRCh37]
Chr12:12q13.12 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659738]|Kabuki syndrome [RCV000304939]|not provided [RCV000514938]|not specified [RCV000121397] |
Chr12:49041141 [GRCh38]
Chr12:49434924 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6699C>T (p.Thr2233=) |
single nucleotide variant |
Kabuki syndrome [RCV002055156]|not provided [RCV000080204] |
Chr12:49041071 [GRCh38]
Chr12:49434854 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659741]|Kabuki syndrome [RCV000408005]|not provided [RCV000858851]|not specified [RCV000080205] |
Chr12:49041018 [GRCh38]
Chr12:49434801 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6978C>G (p.Val2326=) |
single nucleotide variant |
not provided [RCV000080206] |
Chr12:49040792 [GRCh38]
Chr12:49434575 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) |
single nucleotide variant |
KMT2D-related condition [RCV003925056]|Kabuki syndrome [RCV001084575]|not provided [RCV000723594]|not specified [RCV000146228] |
Chr12:49040735 [GRCh38]
Chr12:49434518 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.7066C>T (p.Gln2356Ter) |
single nucleotide variant |
not provided [RCV000177551] |
Chr12:49040704 [GRCh38]
Chr12:49434487 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7140del (p.Gln2380fs) |
deletion |
not provided [RCV000177552] |
Chr12:49040630 [GRCh38]
Chr12:49434413 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001286104]|Kabuki syndrome [RCV000259955]|not provided [RCV000992316]|not specified [RCV000080210] |
Chr12:49040626 [GRCh38]
Chr12:49434409 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000999790]|Kabuki syndrome [RCV001514086]|not provided [RCV000712311]|not specified [RCV000080211] |
Chr12:49040291 [GRCh38]
Chr12:49434074 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.756C>T (p.His252=) |
single nucleotide variant |
Kabuki syndrome [RCV002055157]|not provided [RCV000080212] |
Chr12:49053559 [GRCh38]
Chr12:49447342 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001001867]|Kabuki syndrome [RCV000351079]|not provided [RCV000425546]|not specified [RCV000080213] |
Chr12:49040100 [GRCh38]
Chr12:49433883 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.7795G>A (p.Gly2599Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002515770]|not provided [RCV000080214] |
Chr12:49039975 [GRCh38]
Chr12:49433758 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7839G>A (p.Pro2613=) |
single nucleotide variant |
Kabuki syndrome [RCV002055158]|not provided [RCV000080215] |
Chr12:49039931 [GRCh38]
Chr12:49433714 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7954A>C (p.Met2652Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003935042]|Kabuki syndrome 1 [RCV000509287]|Kabuki syndrome [RCV001487017]|not provided [RCV001682771]|not specified [RCV000080216] |
Chr12:49039816 [GRCh38]
Chr12:49433599 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.8046+11A>G |
single nucleotide variant |
Kabuki syndrome [RCV001519002]|not provided [RCV003656626]|not specified [RCV000080217] |
Chr12:49039713 [GRCh38]
Chr12:49433496 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8047-15C>T |
single nucleotide variant |
Kabuki syndrome [RCV001517305]|not specified [RCV000080218] |
Chr12:49039632 [GRCh38]
Chr12:49433415 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=) |
single nucleotide variant |
Kabuki syndrome [RCV000871414]|not provided [RCV001636644]|not specified [RCV000080219] |
Chr12:49039600 [GRCh38]
Chr12:49433383 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001001732]|Kabuki syndrome [RCV000279415]|not provided [RCV001705747]|not specified [RCV000080220] |
Chr12:49039573 [GRCh38]
Chr12:49433356 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) |
indel |
Kabuki syndrome 1 [RCV002498411]|Kabuki syndrome [RCV001514840]|not provided [RCV000638442]|not specified [RCV000121413] |
Chr12:49039515..49039516 [GRCh38]
Chr12:49433298..49433299 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003915065]|Kabuki syndrome [RCV001399288]|not provided [RCV000080222] |
Chr12:49039300 [GRCh38]
Chr12:49433083 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.8774C>T (p.Ala2925Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659769]|Kabuki syndrome [RCV000264206]|not provided [RCV001529421]|not specified [RCV000080223] |
Chr12:49038582 [GRCh38]
Chr12:49432365 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val) |
single nucleotide variant |
Kabuki syndrome [RCV000367441]|not provided [RCV001705744]|not specified [RCV000080097] |
Chr12:49037311 [GRCh38]
Chr12:49431094 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000601683]|Kabuki syndrome [RCV000390546]|not provided [RCV001573173]|not specified [RCV000080098] |
Chr12:49037164 [GRCh38]
Chr12:49430947 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000509094]|Kabuki syndrome [RCV000297958]|not provided [RCV000514596]|not specified [RCV000121420] |
Chr12:49034911 [GRCh38]
Chr12:49428694 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.10623_10629delinsCGCAAGTCACG (p.Leu3542fs) |
indel |
not provided [RCV000177937] |
Chr12:49034178..49034184 [GRCh38]
Chr12:49427961..49427967 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=) |
single nucleotide variant |
Kabuki syndrome [RCV000391105]|not provided [RCV001668196]|not specified [RCV000080101] |
Chr12:49034136 [GRCh38]
Chr12:49427919 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.10740G>A (p.Gln3580=) |
single nucleotide variant |
not provided [RCV000177938] |
Chr12:49034067 [GRCh38]
Chr12:49427850 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10819C>T (p.Gln3607Ter) |
single nucleotide variant |
not provided [RCV000177990] |
Chr12:49033886 [GRCh38]
Chr12:49427669 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10834C>T (p.Gln3612Ter) |
single nucleotide variant |
not provided [RCV000177986] |
Chr12:49033871 [GRCh38]
Chr12:49427654 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000999985]|Kabuki syndrome [RCV001514085]|not provided [RCV000712301]|not specified [RCV000080105] |
Chr12:49033869 [GRCh38]
Chr12:49427652 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) |
single nucleotide variant |
Kabuki syndrome [RCV002055148]|not provided [RCV000723490]|not specified [RCV000243755] |
Chr12:49033668 [GRCh38]
Chr12:49427451 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.1112+19C>T |
single nucleotide variant |
Kabuki syndrome [RCV001520140]|not provided [RCV000080107] |
Chr12:49052896 [GRCh38]
Chr12:49446679 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659785]|Kabuki syndrome [RCV000871997]|not provided [RCV003390777]|not specified [RCV000121428] |
Chr12:49033564 [GRCh38]
Chr12:49427347 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.11149C>T (p.Gln3717Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001854411]|not provided [RCV000177989] |
Chr12:49033556 [GRCh38]
Chr12:49427339 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003915061]|Kabuki syndrome 1 [RCV000763853]|Kabuki syndrome [RCV001854412]|not provided [RCV000080110] |
Chr12:49033555 [GRCh38]
Chr12:49427338 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11201_11202del (p.Leu3734fs) |
deletion |
not provided [RCV000177991] |
Chr12:49033503..49033504 [GRCh38]
Chr12:49427286..49427287 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003925054]|Kabuki syndrome 1 [RCV002483140]|Kabuki syndrome [RCV000878916]|not provided [RCV001705745]|not specified [RCV000121446] |
Chr12:49052702 [GRCh38]
Chr12:49446485 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) |
microsatellite |
Kabuki syndrome 1 [RCV000659786]|Kabuki syndrome [RCV001421548]|not provided [RCV000992307]|not specified [RCV000080113] |
Chr12:49033482..49033483 [GRCh38]
Chr12:49427265..49427266 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11692C>T (p.Gln3898Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000177985]|not provided [RCV000790792] |
Chr12:49033013 [GRCh38]
Chr12:49426796 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.11723AGCAAC[1] (p.Gln3910_Gln3911del) |
microsatellite |
Kabuki syndrome [RCV000368818]|not specified [RCV000080115] |
Chr12:49032971..49032976 [GRCh38]
Chr12:49426754..49426759 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003952505]|Kabuki syndrome [RCV000330812]|not provided [RCV000080116]|not specified [RCV001818244] |
Chr12:49052635 [GRCh38]
Chr12:49446418 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) |
single nucleotide variant |
Kabuki syndrome [RCV000353616]|not provided [RCV000712303]|not specified [RCV000080117] |
Chr12:49032677 [GRCh38]
Chr12:49426460 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002498409]|Kabuki syndrome [RCV003588574]|not provided [RCV000723524]|not specified [RCV000080118] |
Chr12:49032533 [GRCh38]
Chr12:49426316 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12406C>T (p.Gln4136Ter) |
single nucleotide variant |
not provided [RCV000177987] |
Chr12:49032299 [GRCh38]
Chr12:49426082 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12430C>T (p.Gln4144Ter) |
single nucleotide variant |
not provided [RCV000177992] |
Chr12:49032275 [GRCh38]
Chr12:49426058 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001000000]|Kabuki syndrome [RCV001514084]|not provided [RCV000712304]|not specified [RCV000080121] |
Chr12:49032195 [GRCh38]
Chr12:49425978 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12579G>A (p.Thr4193=) |
single nucleotide variant |
Kabuki syndrome [RCV002514408]|not provided [RCV000080122] |
Chr12:49032126 [GRCh38]
Chr12:49425909 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003925055]|Kabuki syndrome [RCV000347513]|not provided [RCV000080123] |
Chr12:49031993 [GRCh38]
Chr12:49425776 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002483141]|Kabuki syndrome [RCV002055149]|not provided [RCV000638443]|not specified [RCV000080124] |
Chr12:49031838 [GRCh38]
Chr12:49425621 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003242978]|Kabuki syndrome 1 [RCV002498410]|Kabuki syndrome [RCV000350866]|not provided [RCV000224717]|not specified [RCV000080125] |
Chr12:49031792 [GRCh38]
Chr12:49425575 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.1300dup (p.Leu434fs) |
duplication |
Kabuki syndrome 1 [RCV003389236]|not provided [RCV000173777] |
Chr12:49052382..49052383 [GRCh38]
Chr12:49446165..49446166 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13032del (p.Lys4345fs) |
deletion |
not provided [RCV000080127] |
Chr12:49031673 [GRCh38]
Chr12:49425456 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146166]|Kabuki syndrome [RCV001084623]|not provided [RCV000514859]|not specified [RCV000080128] |
Chr12:49031660 [GRCh38]
Chr12:49425443 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.13587C>A (p.Ser4529Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753085]|not provided [RCV000080129] |
Chr12:49030977 [GRCh38]
Chr12:49424760 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) |
single nucleotide variant |
Kabuki syndrome [RCV000359944]|not provided [RCV001719831]|not specified [RCV000080130] |
Chr12:49030920 [GRCh38]
Chr12:49424703 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_003482.4(KMT2D):c.13671+10dup |
duplication |
Kabuki syndrome 1 [RCV000659809]|Kabuki syndrome [RCV000323937]|not provided [RCV001610365]|not specified [RCV000080131] |
Chr12:49030882..49030883 [GRCh38]
Chr12:49424665..49424666 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.13689C>T (p.Pro4563=) |
single nucleotide variant |
Kabuki syndrome [RCV001514413]|not provided [RCV001636643]|not specified [RCV000080132] |
Chr12:49030751 [GRCh38]
Chr12:49424534 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13740C>G (p.Gly4580=) |
single nucleotide variant |
not provided [RCV000080133] |
Chr12:49030700 [GRCh38]
Chr12:49424483 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14185C>T (p.Arg4729Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001344020]|not provided [RCV000080134] |
Chr12:49029127 [GRCh38]
Chr12:49422910 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14238G>A (p.Arg4746=) |
single nucleotide variant |
Kabuki syndrome [RCV000404323]|not provided [RCV001711233]|not specified [RCV000080135] |
Chr12:49029074 [GRCh38]
Chr12:49422857 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14251+18T>C |
single nucleotide variant |
Kabuki syndrome [RCV001522071]|not provided [RCV001594829]|not specified [RCV000080136] |
Chr12:49029043 [GRCh38]
Chr12:49422826 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001001734]|Kabuki syndrome [RCV000299461]|not provided [RCV001711234]|not specified [RCV000080137] |
Chr12:49052257 [GRCh38]
Chr12:49446040 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14580dup (p.Asp4861Ter) |
duplication |
not provided [RCV000178625] |
Chr12:49027865..49027866 [GRCh38]
Chr12:49421648..49421649 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146172]|Kabuki syndrome [RCV000688592]|not provided [RCV002243708] |
Chr12:49027256 [GRCh38]
Chr12:49421039 [GRCh37]
Chr12:12q13.12 |
pathogenic|other|not provided |
| NM_003482.4(KMT2D):c.15030dup (p.Glu5011fs) |
duplication |
not provided [RCV000178656] |
Chr12:49026935..49026936 [GRCh38]
Chr12:49420718..49420719 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15090T>G (p.Arg5030=) |
single nucleotide variant |
Kabuki syndrome [RCV000282623]|not provided [RCV001719832]|not specified [RCV000080141] |
Chr12:49026876 [GRCh38]
Chr12:49420659 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.15104G>C (p.Cys5035Ser) |
single nucleotide variant |
not provided [RCV000178658] |
Chr12:49026862 [GRCh38]
Chr12:49420645 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002514409]|Kabuki syndrome 1 [RCV000172955]|Kabuki syndrome [RCV000638430]|not provided [RCV000080143] |
Chr12:49026824 [GRCh38]
Chr12:49420607 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.15157GACCTG[1] (p.5053DL[1]) |
microsatellite |
Kabuki syndrome [RCV001854413]|not provided [RCV000080144] |
Chr12:49026798..49026803 [GRCh38]
Chr12:49420581..49420586 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.15230T>G (p.Leu5077Arg) |
single nucleotide variant |
not provided [RCV000080145] |
Chr12:49026736 [GRCh38]
Chr12:49420519 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=) |
single nucleotide variant |
Kabuki syndrome [RCV002055150]|not provided [RCV000080146] |
Chr12:49026693 [GRCh38]
Chr12:49420476 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15640C>A (p.Arg5214Ser) |
single nucleotide variant |
not provided [RCV000080147] |
Chr12:49026326 [GRCh38]
Chr12:49420109 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15641G>A (p.Arg5214His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000824832]|Kabuki syndrome [RCV001854414]|not provided [RCV000178659] |
Chr12:49026325 [GRCh38]
Chr12:49420108 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.15649T>C (p.Trp5217Arg) |
single nucleotide variant |
not provided [RCV000080149] |
Chr12:49026317 [GRCh38]
Chr12:49420100 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15787G>A (p.Val5263Met) |
single nucleotide variant |
Kabuki syndrome [RCV003753086]|not provided [RCV000080150] |
Chr12:49024944 [GRCh38]
Chr12:49418727 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15953_15956del (p.Leu5318fs) |
microsatellite |
not provided [RCV000179068] |
Chr12:49024674..49024677 [GRCh38]
Chr12:49418457..49418460 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) |
single nucleotide variant |
Kabuki syndrome [RCV000365512]|not provided [RCV001795097]|not specified [RCV000080152] |
Chr12:49024652 [GRCh38]
Chr12:49418435 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.16109del (p.Gly5370fs) |
deletion |
not provided [RCV000179088] |
Chr12:49022819 [GRCh38]
Chr12:49416602 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16295G>A (p.Arg5432Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659832]|not provided [RCV000080154] |
Chr12:49022633 [GRCh38]
Chr12:49416416 [GRCh37]
Chr12:12q13.12 |
pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.16306_16322delinsC (p.Ala5436fs) |
indel |
not provided [RCV000179089] |
Chr12:49022606..49022622 [GRCh38]
Chr12:49416389..49416405 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16412+16del |
deletion |
Kabuki syndrome 1 [RCV000999845]|Kabuki syndrome [RCV001514083]|not provided [RCV001536702]|not specified [RCV000080156] |
Chr12:49022264 [GRCh38]
Chr12:49416047 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) |
single nucleotide variant |
KMT2D-related condition [RCV003915062]|Kabuki syndrome [RCV000304834]|not provided [RCV000080157] |
Chr12:49051886 [GRCh38]
Chr12:49445669 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.1859C>G (p.Pro620Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002515768]|not provided [RCV000080158] |
Chr12:49051824 [GRCh38]
Chr12:49445607 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003952506]|Kabuki syndrome 1 [RCV000521303]|Kabuki syndrome [RCV000339875]|not provided [RCV000723520] |
Chr12:49051743 [GRCh38]
Chr12:49445526 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659700]|Kabuki syndrome [RCV000288070]|not provided [RCV001711235]|not specified [RCV000121372] |
Chr12:49051527 [GRCh38]
Chr12:49445310 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) |
single nucleotide variant |
KMT2D-related condition [RCV003964925]|Kabuki syndrome [RCV001088525]|not provided [RCV000080161] |
Chr12:49051469 [GRCh38]
Chr12:49445252 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) |
deletion |
KMT2D-related condition [RCV003964926]|Kabuki syndrome [RCV001491375]|not provided [RCV000080162]|not specified [RCV001818245] |
Chr12:49051425..49051451 [GRCh38]
Chr12:49445208..49445234 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2373G>A (p.Gln791=) |
single nucleotide variant |
Kabuki syndrome [RCV002055151]|not provided [RCV000080163] |
Chr12:49051310 [GRCh38]
Chr12:49445093 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2428_2508del (p.Thr810_Gln836del) |
deletion |
Kabuki syndrome [RCV003753087]|not provided [RCV000723509] |
Chr12:49051175..49051255 [GRCh38]
Chr12:49444958..49445038 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu) |
single nucleotide variant |
Kabuki syndrome [RCV000262518]|not provided [RCV000756295]|not specified [RCV000080165] |
Chr12:49051245 [GRCh38]
Chr12:49445028 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) |
single nucleotide variant |
Kabuki syndrome [RCV000328729]|not provided [RCV001795098]|not specified [RCV000080166] |
Chr12:49054680 [GRCh38]
Chr12:49448463 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.2547G>A (p.Ser849=) |
single nucleotide variant |
KMT2D-related condition [RCV003905052]|Kabuki syndrome [RCV002055152]|not provided [RCV000080167] |
Chr12:49051136 [GRCh38]
Chr12:49444919 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2582C>G (p.Ser861Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002515769]|not provided [RCV000080168] |
Chr12:49051101 [GRCh38]
Chr12:49444884 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000755290]|Kabuki syndrome [RCV001514087]|not provided [RCV001682770]|not specified [RCV000080169] |
Chr12:49050762 [GRCh38]
Chr12:49444545 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2838G>A (p.Ala946=) |
single nucleotide variant |
KMT2D-related condition [RCV003952507]|Kabuki syndrome [RCV000263991]|not provided [RCV001536633]|not specified [RCV000080170] |
Chr12:49050750 [GRCh38]
Chr12:49444533 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2860T>C (p.Leu954=) |
single nucleotide variant |
KMT2D-related condition [RCV003894936]|not provided [RCV000080171] |
Chr12:49050728 [GRCh38]
Chr12:49444511 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003915063]|Kabuki syndrome 1 [RCV002055153]|Kabuki syndrome 1 [RCV003224138]|Kabuki syndrome [RCV000365620]|not provided [RCV000723541]|not specified [RCV000121380] |
Chr12:49050596 [GRCh38]
Chr12:49444379 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.3532C>T (p.Gln1178Ter) |
single nucleotide variant |
not provided [RCV000174078] |
Chr12:49050056 [GRCh38]
Chr12:49443839 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3546T>G (p.Cys1182Trp) |
single nucleotide variant |
not provided [RCV000080174] |
Chr12:49050042 [GRCh38]
Chr12:49443825 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3834_3846del (p.Ile1279fs) |
deletion |
not provided [RCV000174079] |
Chr12:49049742..49049754 [GRCh38]
Chr12:49443525..49443537 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4020+13C>G |
single nucleotide variant |
Kabuki syndrome [RCV001516619]|not specified [RCV000080176] |
Chr12:49049092 [GRCh38]
Chr12:49442875 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.4021-15CT[2] |
microsatellite |
Kabuki syndrome [RCV000363557]|not provided [RCV001650912]|not specified [RCV000080177] |
Chr12:49048779..49048780 [GRCh38]
Chr12:49442562..49442563 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4056G>A (p.Glu1352=) |
single nucleotide variant |
Kabuki syndrome [RCV002055154]|not provided [RCV000080178] |
Chr12:49048734 [GRCh38]
Chr12:49442517 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs) |
deletion |
Kabuki syndrome 1 [RCV000146210]|Kabuki syndrome [RCV000799267]|not provided [RCV000790669] |
Chr12:49048065..49048066 [GRCh38]
Chr12:49441848..49441849 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.4143G>A (p.Val1381=) |
single nucleotide variant |
KMT2D-related condition [RCV003935041]|Kabuki syndrome [RCV000872016]|not provided [RCV001618249]|not specified [RCV000080180] |
Chr12:49048058 [GRCh38]
Chr12:49441841 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4342T>C (p.Cys1448Arg) |
single nucleotide variant |
not provided [RCV000080181] |
Chr12:49046685 [GRCh38]
Chr12:49440468 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4742-5T>G |
single nucleotide variant |
not provided [RCV000080182] |
Chr12:49044970 [GRCh38]
Chr12:49438753 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.477T>G (p.Gly159=) |
single nucleotide variant |
Kabuki syndrome [RCV000539363]|not provided [RCV000080183] |
Chr12:49054340 [GRCh38]
Chr12:49448123 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) |
single nucleotide variant |
KMT2D-related condition [RCV003905053]|Kabuki syndrome [RCV001517882]|not provided [RCV000723476]|not specified [RCV000080184] |
Chr12:49044500 [GRCh38]
Chr12:49438283 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.5016T>C (p.Pro1672=) |
single nucleotide variant |
Kabuki syndrome [RCV000390986]|not provided [RCV001530607]|not specified [RCV000080185] |
Chr12:49044470 [GRCh38]
Chr12:49438253 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5084-27C>T |
single nucleotide variant |
not provided [RCV000080186] |
Chr12:49044331 [GRCh38]
Chr12:49438114 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.510+45T>G |
single nucleotide variant |
not provided [RCV001650913]|not specified [RCV000080187] |
Chr12:49054262 [GRCh38]
Chr12:49448045 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=) |
single nucleotide variant |
KMT2D-related condition [RCV003945005]|Kabuki syndrome [RCV002055155]|not provided [RCV000080188] |
Chr12:49044264 [GRCh38]
Chr12:49438047 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001001733]|Kabuki syndrome [RCV000286509]|not provided [RCV001705746]|not specified [RCV000080189] |
Chr12:49043970 [GRCh38]
Chr12:49437753 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5319+3G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002514410]|KMT2D-related condition [RCV003894937]|Kabuki syndrome [RCV000691833]|not provided [RCV000080190] |
Chr12:49043865 [GRCh38]
Chr12:49437648 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.5467+19A>C |
single nucleotide variant |
Kabuki syndrome [RCV001518327]|not specified [RCV000080191] |
Chr12:49043616 [GRCh38]
Chr12:49437399 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5645-17C>T |
single nucleotide variant |
not provided [RCV000080192] |
Chr12:49042895 [GRCh38]
Chr12:49436678 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5645-2A>G |
single nucleotide variant |
not provided [RCV000176651] |
Chr12:49042880 [GRCh38]
Chr12:49436663 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5868-8C>T |
single nucleotide variant |
Kabuki syndrome [RCV000381393]|not provided [RCV001711369]|not specified [RCV000080194] |
Chr12:49042338 [GRCh38]
Chr12:49436121 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5908_5915del (p.Asp1970fs) |
deletion |
Kabuki syndrome 1 [RCV000172950]|not provided [RCV000790764] |
Chr12:49042283..49042290 [GRCh38]
Chr12:49436066..49436073 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.5976G>A (p.Glu1992=) |
single nucleotide variant |
Kabuki syndrome [RCV000276335]|not specified [RCV000080196] |
Chr12:49042222 [GRCh38]
Chr12:49436005 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) |
single nucleotide variant |
KMT2D-related condition [RCV003945006]|Kabuki syndrome [RCV001494744]|not provided [RCV000080197]|not specified [RCV003150943] |
Chr12:49041506 [GRCh38]
Chr12:49435289 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6266A>T (p.Lys2089Met) |
single nucleotide variant |
not provided [RCV000080198] |
Chr12:49041504 [GRCh38]
Chr12:49435287 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=) |
single nucleotide variant |
KMT2D-related condition [RCV003952508]|Kabuki syndrome [RCV000263883]|not provided [RCV000723517] |
Chr12:49041416 [GRCh38]
Chr12:49435199 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.5166del (p.Ser1722fs) |
deletion |
Kabuki syndrome 1 [RCV000659727]|not provided [RCV000122604] |
Chr12:49044222 [GRCh38]
Chr12:49438005 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|not provided |
| NM_003482.4(KMT2D):c.1579C>T (p.Pro527Ser) |
single nucleotide variant |
not specified [RCV000121369] |
Chr12:49052104 [GRCh38]
Chr12:49445887 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.1672C>T (p.Pro558Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001854635]|not specified [RCV000121370] |
Chr12:49052011 [GRCh38]
Chr12:49445794 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002505063]|Kabuki syndrome 1 [RCV003224158]|Kabuki syndrome [RCV000345406]|not provided [RCV000224720]|not specified [RCV000121371] |
Chr12:49051609 [GRCh38]
Chr12:49445392 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_003482.4(KMT2D):c.2186C>T (p.Pro729Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332278]|not specified [RCV000121373] |
Chr12:49051497 [GRCh38]
Chr12:49445280 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003894964]|Kabuki syndrome [RCV001484196]|not provided [RCV000731418]|not specified [RCV000121374] |
Chr12:49051461 [GRCh38]
Chr12:49445244 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.2546C>T (p.Ser849Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003925195]|Kabuki syndrome [RCV000950569]|not provided [RCV001636681]|not specified [RCV000121375] |
Chr12:49051137 [GRCh38]
Chr12:49444920 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|not provided |
| NM_003482.4(KMT2D):c.2656C>A (p.Pro886Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003588575]|not specified [RCV000121376] |
Chr12:49051027 [GRCh38]
Chr12:49444810 [GRCh37]
Chr12:12q13.12 |
benign|not provided |
| NM_003482.4(KMT2D):c.2656C>G (p.Pro886Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002477315]|not provided [RCV000725592]|not specified [RCV000121377] |
Chr12:49051027 [GRCh38]
Chr12:49444810 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.3902A>G (p.Lys1301Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002517593]|not specified [RCV000121379] |
Chr12:49049686 [GRCh38]
Chr12:49443469 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003935161]|Kabuki syndrome 1 [RCV000988841]|Kabuki syndrome [RCV001521913]|not provided [RCV001594848]|not specified [RCV000121381] |
Chr12:49050196 [GRCh38]
Chr12:49443979 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003945084]|Kabuki syndrome 1 [RCV000988840]|Kabuki syndrome [RCV000279877]|not provided [RCV000431106]|not specified [RCV000121382] |
Chr12:49050016 [GRCh38]
Chr12:49443799 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.4030A>G (p.Ile1344Val) |
single nucleotide variant |
KMT2D-related condition [RCV003915211]|Kabuki syndrome [RCV002055345]|not specified [RCV000121384] |
Chr12:49048760 [GRCh38]
Chr12:49442543 [GRCh37]
Chr12:12q13.12 |
likely benign|not provided |
| NM_003482.4(KMT2D):c.5129C>T (p.Thr1710Met) |
single nucleotide variant |
KMT2D-related condition [RCV003398730]|Kabuki syndrome [RCV002055346]|not specified [RCV000121385] |
Chr12:49044259 [GRCh38]
Chr12:49438042 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001838982]|Kabuki syndrome [RCV001854636]|not specified [RCV000121386] |
Chr12:49043980 [GRCh38]
Chr12:49437763 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.5386C>T (p.Arg1796Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001854637]|not provided [RCV002254909]|not specified [RCV000121387] |
Chr12:49043716 [GRCh38]
Chr12:49437499 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val) |
single nucleotide variant |
Kabuki syndrome [RCV002055347]|not provided [RCV000946252]|not specified [RCV000121388] |
Chr12:49043419 [GRCh38]
Chr12:49437202 [GRCh37]
Chr12:12q13.12 |
benign|not provided |
| NM_003482.4(KMT2D):c.5504G>T (p.Arg1835Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753089]|not provided [RCV003133136]|not specified [RCV000121389] |
Chr12:49043392 [GRCh38]
Chr12:49437175 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.5546G>A (p.Gly1849Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003398731]|Kabuki syndrome [RCV002055348]|not specified [RCV000121390] |
Chr12:49043174 [GRCh38]
Chr12:49436957 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.5732C>A (p.Thr1911Asn) |
single nucleotide variant |
not specified [RCV000121391] |
Chr12:49042791 [GRCh38]
Chr12:49436574 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.5753G>A (p.Arg1918His) |
single nucleotide variant |
Kabuki syndrome [RCV001854638]|not specified [RCV000121392] |
Chr12:49042770 [GRCh38]
Chr12:49436553 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.191G>A (p.Arg64Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003764845]|not specified [RCV000121393] |
Chr12:49054737 [GRCh38]
Chr12:49448520 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659688]|Kabuki syndrome [RCV003588576]|not specified [RCV000121394] |
Chr12:49054623 [GRCh38]
Chr12:49448406 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6319C>A (p.Pro2107Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002517594]|Kabuki syndrome [RCV001854639]|not provided [RCV001537245]|not specified [RCV000121395] |
Chr12:49041451 [GRCh38]
Chr12:49435234 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) |
single nucleotide variant |
KMT2D-related condition [RCV003905157]|Kabuki syndrome 1 [RCV001781462]|Kabuki syndrome [RCV002055349]|not specified [RCV000121396] |
Chr12:49041378 [GRCh38]
Chr12:49435161 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6740C>G (p.Pro2247Arg) |
single nucleotide variant |
not specified [RCV000121398] |
Chr12:49041030 [GRCh38]
Chr12:49434813 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003952604]|Kabuki syndrome 1 [RCV000988839]|Kabuki syndrome [RCV001417864]|not provided [RCV003456365]|not specified [RCV000121399] |
Chr12:49040959 [GRCh38]
Chr12:49434742 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6812C>T (p.Pro2271Leu) |
single nucleotide variant |
not specified [RCV000121400] |
Chr12:49040958 [GRCh38]
Chr12:49434741 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.6901C>T (p.Pro2301Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003398732]|Kabuki syndrome [RCV002055350]|not provided [RCV001559016]|not specified [RCV000121401] |
Chr12:49040869 [GRCh38]
Chr12:49434652 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.7490C>T (p.Ala2497Val) |
single nucleotide variant |
Kabuki syndrome [RCV001854640]|not specified [RCV000121402] |
Chr12:49040280 [GRCh38]
Chr12:49434063 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6284G>A (p.Arg2095His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000763857]|Kabuki syndrome [RCV001854641]|not provided [RCV000767217]|not specified [RCV000121403] |
Chr12:49041486 [GRCh38]
Chr12:49435269 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6505G>A (p.Ala2169Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003588577]|not specified [RCV000121404] |
Chr12:49041265 [GRCh38]
Chr12:49435048 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003952605]|Kabuki syndrome 1 [RCV002498568]|Kabuki syndrome [RCV000295803]|not provided [RCV000865137]|not specified [RCV000121405] |
Chr12:49040934 [GRCh38]
Chr12:49434717 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|not provided |
| NM_003482.4(KMT2D):c.7229G>A (p.Arg2410Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003407516]|Kabuki syndrome [RCV002515875]|not provided [RCV000440700]|not specified [RCV000121406] |
Chr12:49040541 [GRCh38]
Chr12:49434324 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659757]|Kabuki syndrome 1 [RCV003224159]|Kabuki syndrome [RCV000945876]|not provided [RCV001657764]|not specified [RCV000121407] |
Chr12:49040065 [GRCh38]
Chr12:49433848 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.6317T>C (p.Ile2106Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002055351]|not specified [RCV000121408] |
Chr12:49041453 [GRCh38]
Chr12:49435236 [GRCh37]
Chr12:12q13.12 |
likely benign|not provided |
| NM_003482.4(KMT2D):c.6445T>C (p.Ser2149Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002055352]|not specified [RCV000121409] |
Chr12:49041325 [GRCh38]
Chr12:49435108 [GRCh37]
Chr12:12q13.12 |
likely benign|not provided |
| NM_003482.4(KMT2D):c.6643T>A (p.Ser2215Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003965018]|Kabuki syndrome 1 [RCV000659739]|Kabuki syndrome [RCV002055353]|not provided [RCV001682834]|not specified [RCV000121410] |
Chr12:49041127 [GRCh38]
Chr12:49434910 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|not provided |
| NM_003482.4(KMT2D):c.6832T>G (p.Phe2278Val) |
single nucleotide variant |
not specified [RCV000121411] |
Chr12:49040938 [GRCh38]
Chr12:49434721 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.8006T>G (p.Met2669Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001498880]|not provided [RCV001289094]|not specified [RCV000121412] |
Chr12:49039764 [GRCh38]
Chr12:49433547 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.9418A>G (p.Lys3140Glu) |
single nucleotide variant |
not specified [RCV000121414] |
Chr12:49037938 [GRCh38]
Chr12:49431721 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.10024C>T (p.Arg3342Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001476840]|not provided [RCV001560883]|not specified [RCV000121415] |
Chr12:49037332 [GRCh38]
Chr12:49431115 [GRCh37]
Chr12:12q13.12 |
likely benign|not provided |
| NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659772]|Kabuki syndrome [RCV000871702]|not provided [RCV001657765]|not specified [RCV000121416] |
Chr12:49038013 [GRCh38]
Chr12:49431796 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|not provided |
| NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002515876]|KMT2D-related condition [RCV003925196]|Kabuki syndrome [RCV001087749]|not provided [RCV000224122]|not specified [RCV000121417] |
Chr12:49037694 [GRCh38]
Chr12:49431477 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.8695G>A (p.Gly2899Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001854642]|not specified [RCV000121418] |
Chr12:49038661 [GRCh38]
Chr12:49432444 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001854643]|not provided [RCV000726082]|not specified [RCV000121419] |
Chr12:49037874 [GRCh38]
Chr12:49431657 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001501324]|not provided [RCV000726604]|not specified [RCV000121421] |
Chr12:49033739 [GRCh38]
Chr12:49427522 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146150]|Kabuki syndrome [RCV000377054]|not provided [RCV000513704]|not specified [RCV000121422] |
Chr12:49033712 [GRCh38]
Chr12:49427495 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.11875C>A (p.Gln3959Lys) |
single nucleotide variant |
not specified [RCV000121423] |
Chr12:49032830 [GRCh38]
Chr12:49426613 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.12800C>T (p.Pro4267Leu) |
single nucleotide variant |
not specified [RCV000121424] |
Chr12:49031905 [GRCh38]
Chr12:49425688 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.13009C>G (p.Pro4337Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001498479]|not provided [RCV001818292]|not specified [RCV000121425] |
Chr12:49031696 [GRCh38]
Chr12:49425479 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.10987G>A (p.Ala3663Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002517595]|not specified [RCV000121426] |
Chr12:49033718 [GRCh38]
Chr12:49427501 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.11120G>A (p.Arg3707Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001854644]|not specified [RCV000121427] |
Chr12:49033585 [GRCh38]
Chr12:49427368 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001001949]|Kabuki syndrome [RCV000387772]|not provided [RCV001707531]|not specified [RCV000121429] |
Chr12:49033095 [GRCh38]
Chr12:49426878 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|not provided |
| NM_003482.4(KMT2D):c.12139G>A (p.Gly4047Arg) |
single nucleotide variant |
not provided [RCV003128581]|not specified [RCV000121430] |
Chr12:49032566 [GRCh38]
Chr12:49426349 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.12980G>A (p.Ser4327Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001854645]|not specified [RCV000121431] |
Chr12:49031725 [GRCh38]
Chr12:49425508 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.13081G>A (p.Ala4361Thr) |
single nucleotide variant |
not specified [RCV000121432] |
Chr12:49031624 [GRCh38]
Chr12:49425407 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.13220T>C (p.Val4407Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001304514]|not specified [RCV000121433] |
Chr12:49031485 [GRCh38]
Chr12:49425268 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.13582G>A (p.Ala4528Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003390806]|Kabuki syndrome [RCV001854646]|not specified [RCV000121434] |
Chr12:49030982 [GRCh38]
Chr12:49424765 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.13817A>G (p.Tyr4606Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV001267487]|not specified [RCV000121435] |
Chr12:49030623 [GRCh38]
Chr12:49424406 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.13796C>T (p.Ala4599Val) |
single nucleotide variant |
KMT2D-related condition [RCV003965019]|Kabuki syndrome [RCV002055354]|not specified [RCV000121436] |
Chr12:49030644 [GRCh38]
Chr12:49424427 [GRCh37]
Chr12:12q13.12 |
likely benign|not provided |
| NM_003482.4(KMT2D):c.13969T>C (p.Ser4657Pro) |
single nucleotide variant |
not specified [RCV000121437] |
Chr12:49030310 [GRCh38]
Chr12:49424093 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659812]|Kabuki syndrome [RCV001514713]|not provided [RCV000872102]|not specified [RCV000121438] |
Chr12:49029232 [GRCh38]
Chr12:49423015 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|benign|likely benign|not provided |
| NM_003482.4(KMT2D):c.15011A>T (p.Glu5004Val) |
single nucleotide variant |
not specified [RCV000121439] |
Chr12:49026955 [GRCh38]
Chr12:49420738 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.14749C>T (p.Pro4917Ser) |
single nucleotide variant |
not specified [RCV000121440] |
Chr12:49027217 [GRCh38]
Chr12:49421000 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.15317G>A (p.Arg5106His) |
single nucleotide variant |
Kabuki syndrome [RCV003753090]|not specified [RCV000121441] |
Chr12:49026649 [GRCh38]
Chr12:49420432 [GRCh37]
Chr12:12q13.12 |
benign|not provided |
| NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146178]|Kabuki syndrome [RCV000285985]|not provided [RCV000514629]|not specified [RCV000121442] |
Chr12:49026295 [GRCh38]
Chr12:49420078 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) |
single nucleotide variant |
Inborn genetic diseases [RCV002515877]|KMT2D-related condition [RCV003945085]|Kabuki syndrome 1 [RCV000659829]|Kabuki syndrome [RCV000865112]|not provided [RCV001705895]|not specified [RCV000121443] |
Chr12:49024934 [GRCh38]
Chr12:49418717 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.553C>T (p.Arg185Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001496616]|not specified [RCV000121444] |
Chr12:49054098 [GRCh38]
Chr12:49447881 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.1057C>A (p.Gln353Lys) |
single nucleotide variant |
not specified [RCV000121445] |
Chr12:49052970 [GRCh38]
Chr12:49446753 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV000878359]|not provided [RCV001650982]|not specified [RCV000121447] |
Chr12:49052707 [GRCh38]
Chr12:49446490 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|not provided |
| NM_003482.4(KMT2D):c.1677_1703del (p.Glu560_Glu568del) |
deletion |
not specified [RCV000121367] |
Chr12:49051980..49052006 [GRCh38]
Chr12:49445763..49445789 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) |
deletion |
Kabuki syndrome 1 [RCV000988842]|Kabuki syndrome [RCV001086532]|not provided [RCV000429353]|not specified [RCV000121368] |
Chr12:49051407..49051433 [GRCh38]
Chr12:49445190..49445216 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|benign|likely benign|not provided |
| NM_003482.4(KMT2D):c.3993_3995del (p.Thr1332del) |
deletion |
not specified [RCV000121383] |
Chr12:49049130..49049132 [GRCh38]
Chr12:49442913..49442915 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.2747_2748delinsAGCTGAGCCATCC (p.Pro916fs) |
indel |
not provided [RCV000173776] |
Chr12:49050935..49050936 [GRCh38]
Chr12:49444718..49444719 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| Single allele |
duplication |
Kabuki make-up syndrome [RCV000173777] |
Chr12:49446165..49446166 [GRCh37] |
pathogenic |
| NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) |
deletion |
Kabuki syndrome [RCV000871910]|not provided [RCV001675654]|not specified [RCV000173779] |
Chr12:49051374..49051400 [GRCh38]
Chr12:49445157..49445183 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.3582dup (p.Thr1195fs) |
duplication |
not provided [RCV000174075] |
Chr12:49050005..49050006 [GRCh38]
Chr12:49443788..49443789 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2798-7del |
deletion |
Kabuki syndrome 1 [RCV001285018]|Kabuki syndrome [RCV000359921]|not provided [RCV001570655]|not specified [RCV000174076] |
Chr12:49050797 [GRCh38]
Chr12:49444580 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.11395C>T (p.Gln3799Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002293240]|not provided [RCV000171213] |
Chr12:49033310 [GRCh38]
Chr12:49427093 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.4485C>G (p.Tyr1495Ter) |
single nucleotide variant |
not provided [RCV000175041] |
Chr12:49046358 [GRCh38]
Chr12:49440141 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1074C>G (p.Ile358Met) |
single nucleotide variant |
Kabuki syndrome [RCV001348179] |
Chr12:49052953 [GRCh38]
Chr12:49446736 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8578C>T (p.Arg2860Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003409726]|Kabuki syndrome [RCV002060204]|not provided [RCV000514112] |
Chr12:49038778 [GRCh38]
Chr12:49432561 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4168dup (p.Ala1390fs) |
duplication |
Kabuki syndrome 1 [RCV002470793]|Kabuki syndrome [RCV003588588]|not provided [RCV000174739] |
Chr12:49048032..49048033 [GRCh38]
Chr12:49441815..49441816 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4265G>A (p.Trp1422Ter) |
single nucleotide variant |
not provided [RCV000174880] |
Chr12:49046762 [GRCh38]
Chr12:49440545 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5677C>T (p.Gln1893Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001201615]|not provided [RCV000176652] |
Chr12:49042846 [GRCh38]
Chr12:49436629 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.177-9_178del |
deletion |
not provided [RCV000177176] |
Chr12:49054750..49054760 [GRCh38]
Chr12:49448536..49448546 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4237-2A>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV000190497] |
Chr12:49046792 [GRCh38]
Chr12:49440575 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5131A>T (p.Lys1711Ter) |
single nucleotide variant |
not provided [RCV000176195] |
Chr12:49044257 [GRCh38]
Chr12:49438040 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8260A>G (p.Ser2754Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002001842] |
Chr12:49039328 [GRCh38]
Chr12:49433111 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) |
single nucleotide variant |
KMT2D-related condition [RCV003955051]|Kabuki syndrome 1 [RCV002500494]|Kabuki syndrome [RCV000369004]|not provided [RCV001706130]|not specified [RCV000176933] |
Chr12:49041920 [GRCh38]
Chr12:49435703 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002524987]|Kabuki syndrome [RCV001041581]|not provided [RCV000514113]|not specified [RCV001821440] |
Chr12:49033427 [GRCh38]
Chr12:49427210 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5423del (p.Gly1808fs) |
deletion |
not provided [RCV000176392] |
Chr12:49043679 [GRCh38]
Chr12:49437462 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003907603]|Kabuki syndrome 1 [RCV000659746]|Kabuki syndrome [RCV001522735]|not provided [RCV001618333]|not specified [RCV000177547] |
Chr12:49040724 [GRCh38]
Chr12:49434507 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7375_7376del (p.Ser2459fs) |
deletion |
not provided [RCV000177548] |
Chr12:49040394..49040395 [GRCh38]
Chr12:49434177..49434178 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7903C>T (p.Arg2635Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002517716]|not provided [RCV000177549] |
Chr12:49039867 [GRCh38]
Chr12:49433650 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6349C>T (p.Pro2117Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002054095]|not specified [RCV000177550] |
Chr12:49041421 [GRCh38]
Chr12:49435204 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15407A>G (p.His5136Arg) |
single nucleotide variant |
not provided [RCV003159476] |
Chr12:49026559 [GRCh38]
Chr12:49420342 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| Single allele |
duplication |
Kabuki make-up syndrome [RCV000178625] |
Chr12:49421648..49421649 [GRCh37] |
pathogenic |
| NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002516779]|Kabuki syndrome [RCV001852216]|not specified [RCV000178650] |
Chr12:49026766 [GRCh38]
Chr12:49420549 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14885dup (p.Pro4963fs) |
duplication |
not provided [RCV000178652] |
Chr12:49027080..49027081 [GRCh38]
Chr12:49420863..49420864 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15172del (p.Val5058fs) |
deletion |
not provided [RCV000178653] |
Chr12:49026794 [GRCh38]
Chr12:49420577 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15559G>C (p.Ala5187Pro) |
single nucleotide variant |
not provided [RCV000178655] |
Chr12:49026407 [GRCh38]
Chr12:49420190 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| Single allele |
duplication |
Kabuki make-up syndrome [RCV000178656] |
Chr12:49420718..49420719 [GRCh37] |
pathogenic |
| NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) |
single nucleotide variant |
Kabuki syndrome [RCV000269847]|not provided [RCV001706146]|not specified [RCV000179144] |
Chr12:49021795 [GRCh38]
Chr12:49415578 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659777]|Kabuki syndrome [RCV000338854]|not provided [RCV001711466]|not specified [RCV000177846] |
Chr12:49034934 [GRCh38]
Chr12:49428717 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.11957C>G (p.Ser3986Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753098]|not specified [RCV000177984] |
Chr12:49032748 [GRCh38]
Chr12:49426531 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11939del (p.Gln3980fs) |
deletion |
not provided [RCV000177995] |
Chr12:49032766 [GRCh38]
Chr12:49426549 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12481del (p.Glu4161fs) |
deletion |
not provided [RCV000177996] |
Chr12:49032224 [GRCh38]
Chr12:49426007 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13780dup (p.Ala4594fs) |
duplication |
not provided [RCV000178460] |
Chr12:49030659..49030660 [GRCh38]
Chr12:49424442..49424443 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| Single allele |
indel |
Kabuki make-up syndrome [RCV000179089] |
Chr12:49416389..49416405 [GRCh37] |
pathogenic |
| NM_003482.4(KMT2D):c.16412+1G>T |
single nucleotide variant |
not provided [RCV000179103] |
Chr12:49022279 [GRCh38]
Chr12:49416062 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9720G>A (p.Leu3240=) |
single nucleotide variant |
Kabuki syndrome [RCV003104238] |
Chr12:49037636 [GRCh38]
Chr12:49431419 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4570C>T (p.Arg1524Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332280]|Kabuki syndrome [RCV001865688]|not provided [RCV000515113] |
Chr12:49046273 [GRCh38]
Chr12:49440056 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001291791] |
Chr12:49031359 [GRCh38]
Chr12:49425142 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001291801]|Kabuki syndrome [RCV002538406] |
Chr12:49032032 [GRCh38]
Chr12:49425815 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3817T>C (p.Cys1273Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332279] |
Chr12:49049771 [GRCh38]
Chr12:49443554 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4727A>G (p.Lys1576Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332281] |
Chr12:49045934 [GRCh38]
Chr12:49439717 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2133G>A (p.Pro711=) |
single nucleotide variant |
Kabuki syndrome [RCV001348687] |
Chr12:49051550 [GRCh38]
Chr12:49445333 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4810A>G (p.Thr1604Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332282]|Kabuki syndrome [RCV002546545] |
Chr12:49044897 [GRCh38]
Chr12:49438680 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6765G>A (p.Leu2255=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000256472] |
Chr12:49041005 [GRCh38]
Chr12:49434788 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11787del (p.Gln3929fs) |
deletion |
not provided [RCV001310644] |
Chr12:49032918 [GRCh38]
Chr12:49426701 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002492730]|Kabuki syndrome [RCV002516599]|not provided [RCV000173778] |
Chr12:49051315 [GRCh38]
Chr12:49445098 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.3(KMT2D):c.2321C>A (p.Pro774His) |
single nucleotide variant |
not provided [RCV000173780] |
Chr12:49051362 [GRCh38]
Chr12:49445145 [GRCh37]
Chr12:12q13.12 |
uncertain significance|other |
| NM_003482.4(KMT2D):c.2204G>T (p.Cys735Phe) |
single nucleotide variant |
KMT2D-related condition [RCV003965249]|Kabuki syndrome [RCV002054058]|not specified [RCV000173781] |
Chr12:49051479 [GRCh38]
Chr12:49445262 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003224188]|Kabuki syndrome [RCV001316081]|not provided [RCV000174077] |
Chr12:49049699 [GRCh38]
Chr12:49443482 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4414A>G (p.Lys1472Glu) |
single nucleotide variant |
not provided [RCV000174881] |
Chr12:49046613 [GRCh38]
Chr12:49440396 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12688C>T (p.Gln4230Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000172947] |
Chr12:49032017 [GRCh38]
Chr12:49425800 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9961C>T (p.Arg3321Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000172948]|Kabuki syndrome [RCV001850286] |
Chr12:49037395 [GRCh38]
Chr12:49431178 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.14659G>T (p.Glu4887Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000172949] |
Chr12:49027307 [GRCh38]
Chr12:49421090 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15235_15238del (p.Asn5079fs) |
deletion |
Kabuki syndrome 1 [RCV000172951] |
Chr12:49026728..49026731 [GRCh38]
Chr12:49420511..49420514 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7481dup (p.Ala2496fs) |
duplication |
Kabuki syndrome 1 [RCV000172952] |
Chr12:49040288..49040289 [GRCh38]
Chr12:49434071..49434072 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16413-1G>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV000172953] |
Chr12:49022152 [GRCh38]
Chr12:49415935 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del) |
deletion |
Kabuki syndrome 1 [RCV000172954]|not provided [RCV001762355]|not specified [RCV002247561] |
Chr12:49032892..49032909 [GRCh38]
Chr12:49426675..49426692 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.14732C>T (p.Pro4911Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000172956]|not provided [RCV003736615] |
Chr12:49027234 [GRCh38]
Chr12:49421017 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146148]|Kabuki syndrome [RCV001857511] |
Chr12:49034855 [GRCh38]
Chr12:49428638 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10444C>T (p.Arg3482Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003945168]|Kabuki syndrome 1 [RCV000146149]|Kabuki syndrome [RCV002055892]|not provided [RCV002225451] |
Chr12:49034473 [GRCh38]
Chr12:49428256 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11043G>A (p.Gln3681=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146151]|Kabuki syndrome [RCV002055893]|not specified [RCV000177997] |
Chr12:49033662 [GRCh38]
Chr12:49427445 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146152] |
Chr12:49033442 [GRCh38]
Chr12:49427225 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146153] |
Chr12:49033415 [GRCh38]
Chr12:49427198 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.11386del (p.Gln3796fs) |
deletion |
Kabuki syndrome 1 [RCV000146154]|Kabuki syndrome [RCV001054015] |
Chr12:49033319 [GRCh38]
Chr12:49427102 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11563G>C (p.Ala3855Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146155] |
Chr12:49033142 [GRCh38]
Chr12:49426925 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11738AGC[6] (p.Gln3919del) |
microsatellite |
Kabuki syndrome [RCV001857512]|not provided [RCV003736603]|not specified [RCV000146156] |
Chr12:49032947..49032949 [GRCh38]
Chr12:49426730..49426732 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11886A>G (p.Gln3962=) |
single nucleotide variant |
KMT2D-related condition [RCV003975152]|Kabuki syndrome 1 [RCV000146157]|Kabuki syndrome [RCV000951954]|not provided [RCV001707534] |
Chr12:49032819 [GRCh38]
Chr12:49426602 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12270G>A (p.Gln4090=) |
single nucleotide variant |
KMT2D-related condition [RCV003895029]|Kabuki syndrome 1 [RCV000146158]|Kabuki syndrome [RCV002055894] |
Chr12:49032435 [GRCh38]
Chr12:49426218 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624920]|Kabuki syndrome 1 [RCV000146159]|Kabuki syndrome [RCV000707588]|not provided [RCV001548390] |
Chr12:49032113 [GRCh38]
Chr12:49425896 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12768C>T (p.Leu4256=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146160] |
Chr12:49031937 [GRCh38]
Chr12:49425720 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12896del (p.Gly4299fs) |
deletion |
Kabuki syndrome 1 [RCV000146161] |
Chr12:49031809 [GRCh38]
Chr12:49425592 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs) |
microsatellite |
Kabuki syndrome 1 [RCV000146163] |
Chr12:49031748..49031749 [GRCh38]
Chr12:49425531..49425532 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146164] |
Chr12:49031743 [GRCh38]
Chr12:49425526 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) |
single nucleotide variant |
KMT2D-related condition [RCV003917444]|Kabuki syndrome [RCV002055895]|not provided [RCV001689685]|not specified [RCV000146165] |
Chr12:49031704 [GRCh38]
Chr12:49425487 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs) |
deletion |
Kabuki syndrome 1 [RCV000146167] |
Chr12:49052351..49052354 [GRCh38]
Chr12:49446134..49446137 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622817]|Kabuki syndrome 1 [RCV000146168]|Kabuki syndrome [RCV003753091] |
Chr12:49031255 [GRCh38]
Chr12:49425038 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13518del (p.Ser4507fs) |
deletion |
Kabuki syndrome 1 [RCV000146169] |
Chr12:49031187 [GRCh38]
Chr12:49424970 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146170]|Kabuki syndrome [RCV000549081]|not provided [RCV000724642] |
Chr12:49030958 [GRCh38]
Chr12:49424741 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs) |
deletion |
Kabuki syndrome 1 [RCV000146171] |
Chr12:49030282..49030283 [GRCh38]
Chr12:49424065..49424066 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146173]|Kabuki syndrome [RCV001849982] |
Chr12:49027126 [GRCh38]
Chr12:49420909 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146174]|not provided [RCV000790679] |
Chr12:49026905 [GRCh38]
Chr12:49420688 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146175] |
Chr12:49026771 [GRCh38]
Chr12:49420554 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15245T>G (p.Val5082Gly) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146176] |
Chr12:49026721 [GRCh38]
Chr12:49420504 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15361G>T (p.Ala5121Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146177] |
Chr12:49026605 [GRCh38]
Chr12:49420388 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146179] |
Chr12:49024940 [GRCh38]
Chr12:49418723 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146180]|Kabuki syndrome [RCV001849983] |
Chr12:49024887 [GRCh38]
Chr12:49418670 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146181] |
Chr12:49024687 [GRCh38]
Chr12:49418470 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16411A>T (p.Arg5471Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146182] |
Chr12:49022281 [GRCh38]
Chr12:49416064 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16412+13G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146183]|Kabuki syndrome [RCV003753092] |
Chr12:49022267 [GRCh38]
Chr12:49416050 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.16413G>T (p.Arg5471Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146184] |
Chr12:49022151 [GRCh38]
Chr12:49415934 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs) |
deletion |
Kabuki syndrome 1 [RCV000146185]|Kabuki syndrome [RCV000818696]|not provided [RCV000724586] |
Chr12:49022123..49022126 [GRCh38]
Chr12:49415906..49415909 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) |
microsatellite |
Kabuki syndrome 1 [RCV000146186] |
Chr12:49022073..49022075 [GRCh38]
Chr12:49415856..49415858 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146187] |
Chr12:49051870 [GRCh38]
Chr12:49445653 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002498667]|Kabuki syndrome [RCV000407813]|not provided [RCV001711405]|not specified [RCV000146188] |
Chr12:49051745 [GRCh38]
Chr12:49445528 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) |
single nucleotide variant |
Kabuki syndrome [RCV000407825]|not provided [RCV001705945]|not specified [RCV000146189] |
Chr12:49051631 [GRCh38]
Chr12:49445414 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.2062C>T (p.Arg688Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003927432]|Kabuki syndrome [RCV002055896]|not specified [RCV000146190] |
Chr12:49051621 [GRCh38]
Chr12:49445404 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2078C>A (p.Pro693His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146191] |
Chr12:49051605 [GRCh38]
Chr12:49445388 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2215G>A (p.Glu739Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003753093]|not specified [RCV000146192] |
Chr12:49051468 [GRCh38]
Chr12:49445251 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) |
single nucleotide variant |
KMT2D-related condition [RCV003945169]|Kabuki syndrome [RCV002055897]|not provided [RCV000725951]|not specified [RCV000146193] |
Chr12:49051451 [GRCh38]
Chr12:49445234 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.2256_2282del (p.746RPEEPHLSP[1]) |
deletion |
Kabuki syndrome [RCV002055898]|not provided [RCV003324725]|not specified [RCV000146195] |
Chr12:49051401..49051427 [GRCh38]
Chr12:49445184..49445210 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.2506C>A (p.Gln836Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659703]|Kabuki syndrome 1 [RCV003224166]|Kabuki syndrome [RCV001404137]|not provided [RCV001709495]|not specified [RCV000146196] |
Chr12:49051177 [GRCh38]
Chr12:49444960 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146197] |
Chr12:49054672 [GRCh38]
Chr12:49448455 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2657C>T (p.Pro886Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146198]|Kabuki syndrome [RCV003753094]|not provided [RCV003129786] |
Chr12:49051026 [GRCh38]
Chr12:49444809 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.288G>C (p.Val96=) |
single nucleotide variant |
not specified [RCV000146199] |
Chr12:49054640 [GRCh38]
Chr12:49448423 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146200]|not provided [RCV000724644] |
Chr12:49050467 [GRCh38]
Chr12:49444250 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146201] |
Chr12:49050035 [GRCh38]
Chr12:49443818 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3695del (p.Pro1232fs) |
deletion |
Kabuki syndrome 1 [RCV000146202] |
Chr12:49049893 [GRCh38]
Chr12:49443676 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3803A>C (p.Asp1268Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146203] |
Chr12:49049785 [GRCh38]
Chr12:49443568 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3813A>G (p.Leu1271=) |
single nucleotide variant |
Kabuki syndrome [RCV002055899]|not specified [RCV000146204] |
Chr12:49049775 [GRCh38]
Chr12:49443558 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.400+1G>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146205] |
Chr12:49054527 [GRCh38]
Chr12:49448310 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4083G>C (p.Gln1361His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146207] |
Chr12:49048707 [GRCh38]
Chr12:49442490 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4123C>T (p.Leu1375=) |
single nucleotide variant |
KMT2D-related condition [RCV003895030]|Kabuki syndrome 1 [RCV000146208]|Kabuki syndrome [RCV001449194] |
Chr12:49048667 [GRCh38]
Chr12:49442450 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4131G>C (p.Gln1377His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146209] |
Chr12:49048659 [GRCh38]
Chr12:49442442 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4221del (p.Cys1408fs) |
deletion |
Kabuki syndrome 1 [RCV000146211] |
Chr12:49047980 [GRCh38]
Chr12:49441763 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4343G>A (p.Cys1448Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146212]|Kabuki syndrome [RCV001338347] |
Chr12:49046684 [GRCh38]
Chr12:49440467 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4418+5G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146213] |
Chr12:49046604 [GRCh38]
Chr12:49440387 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146214]|Kabuki syndrome [RCV001857513]|not provided [RCV000276560] |
Chr12:49046422 [GRCh38]
Chr12:49440205 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.4739del (p.Pro1580fs) |
deletion |
Kabuki syndrome 1 [RCV000146215] |
Chr12:49045922 [GRCh38]
Chr12:49439705 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5592C>A (p.Gly1864=) |
single nucleotide variant |
not specified [RCV000146216] |
Chr12:49043128 [GRCh38]
Chr12:49436911 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=) |
single nucleotide variant |
Kabuki syndrome [RCV000875662]|not provided [RCV001531785]|not specified [RCV000146217] |
Chr12:49042246 [GRCh38]
Chr12:49436029 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6020A>C (p.Glu2007Ala) |
single nucleotide variant |
not specified [RCV000146218] |
Chr12:49042178 [GRCh38]
Chr12:49435961 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6086del (p.Pro2029fs) |
deletion |
Kabuki syndrome 1 [RCV000146219] |
Chr12:49042112 [GRCh38]
Chr12:49435895 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146220] |
Chr12:49041974 [GRCh38]
Chr12:49435757 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146223]|Kabuki syndrome [RCV001857514] |
Chr12:49041130 [GRCh38]
Chr12:49434913 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs) |
deletion |
Kabuki syndrome 1 [RCV000146224] |
Chr12:49041096..49041100 [GRCh38]
Chr12:49434879..49434883 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6733C>G (p.Leu2245Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659740]|Kabuki syndrome [RCV000289783]|not provided [RCV001705946]|not specified [RCV000177545] |
Chr12:49041037 [GRCh38]
Chr12:49434820 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146226]|Kabuki syndrome [RCV000343763]|not provided [RCV001711587]|not specified [RCV000153415] |
Chr12:49040963 [GRCh38]
Chr12:49434746 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146227]|Kabuki syndrome [RCV001338541] |
Chr12:49040926 [GRCh38]
Chr12:49434709 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7170G>A (p.Pro2390=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146229]|Kabuki syndrome [RCV001857515] |
Chr12:49040600 [GRCh38]
Chr12:49434383 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001001948]|Kabuki syndrome [RCV000323262]|not provided [RCV001705947]|not specified [RCV000146230] |
Chr12:49040582 [GRCh38]
Chr12:49434365 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_003482.4(KMT2D):c.7198C>G (p.Pro2400Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146231]|Kabuki syndrome [RCV001501756]|not provided [RCV001657838]|not specified [RCV000516606] |
Chr12:49040572 [GRCh38]
Chr12:49434355 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7841C>T (p.Ser2614Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753095]|not specified [RCV000146233] |
Chr12:49039929 [GRCh38]
Chr12:49433712 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7904G>A (p.Arg2635Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001305901]|not provided [RCV001701616]|not specified [RCV000146234] |
Chr12:49039866 [GRCh38]
Chr12:49433649 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146236] |
Chr12:49039611 [GRCh38]
Chr12:49433394 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs) |
deletion |
Kabuki syndrome 1 [RCV000146238] |
Chr12:49039489..49039493 [GRCh38]
Chr12:49433272..49433276 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.8360A>C (p.Asn2787Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146239] |
Chr12:49039228 [GRCh38]
Chr12:49433011 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146240]|Kabuki syndrome [RCV001857516] |
Chr12:49038613 [GRCh38]
Chr12:49432396 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.9491G>A (p.Arg3164Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002515964]|not specified [RCV000146242] |
Chr12:49037865 [GRCh38]
Chr12:49431648 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.968G>A (p.Cys323Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000146243] |
Chr12:49053059 [GRCh38]
Chr12:49446842 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) |
single nucleotide variant |
Kabuki syndrome [RCV000364030]|not provided [RCV001705948]|not specified [RCV000146244] |
Chr12:49037630 [GRCh38]
Chr12:49431413 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659821]|Kabuki syndrome [RCV001857870]|not provided [RCV000513947] |
Chr12:49026878 [GRCh38]
Chr12:49420661 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.4642G>A (p.Asp1548Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001852141]|not provided [RCV000175174] |
Chr12:49046116 [GRCh38]
Chr12:49439899 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_003482.4(KMT2D):c.133del (p.Ser45fs) |
deletion |
not provided [RCV000153425] |
Chr12:49054943 [GRCh38]
Chr12:49448726 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4745C>G (p.Pro1582Arg) |
single nucleotide variant |
not provided [RCV000175434] |
Chr12:49044962 [GRCh38]
Chr12:49438745 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16487T>G (p.Ile5496Ser) |
single nucleotide variant |
not provided [RCV000153404] |
Chr12:49022077 [GRCh38]
Chr12:49415860 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000178657]|Kabuki syndrome [RCV003588580]|not provided [RCV000153407] |
Chr12:49026710 [GRCh38]
Chr12:49420493 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=) |
single nucleotide variant |
KMT2D-related condition [RCV003945209]|Kabuki syndrome [RCV003753096]|not provided [RCV000153409] |
Chr12:49030643 [GRCh38]
Chr12:49424426 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=) |
single nucleotide variant |
KMT2D-related condition [RCV003975200]|not provided [RCV000153410] |
Chr12:49031268 [GRCh38]
Chr12:49425051 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.12261C>G (p.Ser4087Arg) |
single nucleotide variant |
not provided [RCV000153411] |
Chr12:49032444 [GRCh38]
Chr12:49426227 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8488C>T (p.Arg2830Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001254175]|Kabuki syndrome [RCV001045940]|not provided [RCV000177775] |
Chr12:49038868 [GRCh38]
Chr12:49432651 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7710C>T (p.Pro2570=) |
single nucleotide variant |
not provided [RCV000153413] |
Chr12:49040060 [GRCh38]
Chr12:49433843 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7109G>A (p.Arg2370His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000763855]|Kabuki syndrome [RCV002056034]|not provided [RCV000153414] |
Chr12:49040661 [GRCh38]
Chr12:49434444 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=) |
single nucleotide variant |
KMT2D-related condition [RCV003917503]|Kabuki syndrome [RCV001078593]|not provided [RCV000153416] |
Chr12:49041314 [GRCh38]
Chr12:49435097 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.4009G>T (p.Glu1337Ter) |
single nucleotide variant |
not provided [RCV000174315] |
Chr12:49049116 [GRCh38]
Chr12:49442899 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3906+20C>T |
single nucleotide variant |
Kabuki syndrome [RCV002056035]|not provided [RCV000153418] |
Chr12:49049662 [GRCh38]
Chr12:49443445 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000174080]|Kabuki syndrome [RCV001850095]|not provided [RCV000790774] |
Chr12:49049834 [GRCh38]
Chr12:49443617 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2797+1G>A |
single nucleotide variant |
not provided [RCV000173774] |
Chr12:49050885 [GRCh38]
Chr12:49444668 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1814_1815del (p.Glu605fs) |
microsatellite |
not provided [RCV000173775] |
Chr12:49051868..49051869 [GRCh38]
Chr12:49445651..49445652 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1488G>A (p.Pro496=) |
single nucleotide variant |
KMT2D-related condition [RCV003965142]|Kabuki syndrome [RCV002514956]|not provided [RCV000153422] |
Chr12:49052195 [GRCh38]
Chr12:49445978 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003975201]|Kabuki syndrome [RCV001405909]|not provided [RCV000153423] |
Chr12:49052305 [GRCh38]
Chr12:49446088 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5142T>G (p.Pro1714=) |
single nucleotide variant |
not provided [RCV000176194] |
Chr12:49044246 [GRCh38]
Chr12:49438029 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1490C>T (p.Pro497Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003422097]|Kabuki syndrome [RCV001444865]|not provided [RCV001576341]|not specified [RCV000193123] |
Chr12:49052193 [GRCh38]
Chr12:49445976 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13588G>A (p.Asp4530Asn) |
single nucleotide variant |
KMT2D-related condition [RCV003398896]|Kabuki syndrome [RCV002054116]|not provided [RCV000178430] |
Chr12:49030976 [GRCh38]
Chr12:49424759 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002517944]|Kabuki syndrome [RCV000697204]|not specified [RCV000194184] |
Chr12:49051150 [GRCh38]
Chr12:49444933 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000623497]|Kabuki syndrome [RCV001852217]|not provided [RCV000178651] |
Chr12:49026431 [GRCh38]
Chr12:49420214 [GRCh37]
Chr12:12q13.12 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.15230T>C (p.Leu5077Pro) |
single nucleotide variant |
Kabuki syndrome [RCV000702652]|not provided [RCV000178654] |
Chr12:49026736 [GRCh38]
Chr12:49420519 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) |
single nucleotide variant |
Kabuki syndrome [RCV002054269]|not provided [RCV000871348]|not specified [RCV000194858] |
Chr12:49050561 [GRCh38]
Chr12:49444344 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9765T>C (p.His3255=) |
single nucleotide variant |
Kabuki syndrome [RCV000945943]|not provided [RCV001610513]|not specified [RCV000195207] |
Chr12:49037591 [GRCh38]
Chr12:49431374 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.878C>T (p.Thr293Met) |
single nucleotide variant |
Kabuki syndrome [RCV002516802]|not provided [RCV000179857] |
Chr12:49053283 [GRCh38]
Chr12:49447066 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) |
single nucleotide variant |
KMT2D-related condition [RCV003937642]|Kabuki syndrome [RCV001442610]|not provided [RCV000724299]|not specified [RCV001818446] |
Chr12:49052673 [GRCh38]
Chr12:49446456 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) |
single nucleotide variant |
KMT2D-related condition [RCV003937603]|Kabuki syndrome [RCV002054091]|not provided [RCV000177462] |
Chr12:49041685 [GRCh38]
Chr12:49435468 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6235-6C>G |
single nucleotide variant |
KMT2D-related condition [RCV003907601]|Kabuki syndrome 1 [RCV003224193]|Kabuki syndrome [RCV001078907]|not provided [RCV000177539]|not specified [RCV001818429] |
Chr12:49041541 [GRCh38]
Chr12:49435324 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6649C>T (p.Arg2217Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001362360]|not provided [RCV000177540] |
Chr12:49041121 [GRCh38]
Chr12:49434904 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7201C>T (p.Arg2401Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002516739]|not provided [RCV000177541] |
Chr12:49040569 [GRCh38]
Chr12:49434352 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003588589]|not provided [RCV000177542] |
Chr12:49041031 [GRCh38]
Chr12:49434814 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) |
single nucleotide variant |
KMT2D-related condition [RCV003907602]|Kabuki syndrome [RCV001433557]|not provided [RCV000177543] |
Chr12:49041425 [GRCh38]
Chr12:49435208 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7251C>T (p.Ser2417=) |
single nucleotide variant |
not provided [RCV000177544] |
Chr12:49040519 [GRCh38]
Chr12:49434302 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003947502]|Kabuki syndrome 1 [RCV000659750]|Kabuki syndrome [RCV000358195]|not provided [RCV000177546] |
Chr12:49040469 [GRCh38]
Chr12:49434252 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.8047-7dup |
duplication |
Kabuki syndrome [RCV000374978]|not provided [RCV001706136]|not specified [RCV000177647] |
Chr12:49039623..49039624 [GRCh38]
Chr12:49433406..49433407 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.9212G>A (p.Arg3071Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002485160]|Kabuki syndrome [RCV001852198]|not provided [RCV000177772] |
Chr12:49038144 [GRCh38]
Chr12:49431927 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8924G>A (p.Arg2975His) |
single nucleotide variant |
Kabuki syndrome [RCV002516752]|not provided [RCV000177773] |
Chr12:49038432 [GRCh38]
Chr12:49432215 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9502A>G (p.Met3168Val) |
single nucleotide variant |
Kabuki syndrome [RCV001852199]|not provided [RCV000177774] |
Chr12:49037854 [GRCh38]
Chr12:49431637 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10889A>G (p.Lys3630Arg) |
single nucleotide variant |
not provided [RCV000177993] |
Chr12:49033816 [GRCh38]
Chr12:49427599 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10850T>G (p.Leu3617Arg) |
single nucleotide variant |
not provided [RCV000177994] |
Chr12:49033855 [GRCh38]
Chr12:49427638 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11275C>T (p.Gln3759Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000200354] |
Chr12:49033430 [GRCh38]
Chr12:49427213 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.303del (p.Ser102fs) |
deletion |
Kabuki syndrome 1 [RCV000192334] |
Chr12:49054625 [GRCh38]
Chr12:49448408 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.400+7_400+8insC |
insertion |
not specified [RCV000192722] |
Chr12:49054520..49054521 [GRCh38]
Chr12:49448303..49448304 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4366T>A (p.Cys1456Ser) |
single nucleotide variant |
not specified [RCV000193014] |
Chr12:49046661 [GRCh38]
Chr12:49440444 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs) |
duplication |
Kabuki syndrome 1 [RCV000193150] |
Chr12:49038880..49038881 [GRCh38]
Chr12:49432663..49432664 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) |
single nucleotide variant |
Kabuki syndrome [RCV001852558]|not provided [RCV003389759]|not specified [RCV000193203] |
Chr12:49033064 [GRCh38]
Chr12:49426847 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6172del (p.Ala2058fs) |
deletion |
Kabuki syndrome 1 [RCV000193310]|not provided [RCV000598945] |
Chr12:49041928 [GRCh38]
Chr12:49435711 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs) |
duplication |
Kabuki syndrome 1 [RCV000193552] |
Chr12:49050002..49050003 [GRCh38]
Chr12:49443785..49443786 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs) |
insertion |
Kabuki syndrome 1 [RCV000193617] |
Chr12:49050633..49050634 [GRCh38]
Chr12:49444416..49444417 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs) |
duplication |
Kabuki syndrome 1 [RCV000193869] |
Chr12:49044504..49044505 [GRCh38]
Chr12:49438287..49438288 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000194043] |
Chr12:49032860 [GRCh38]
Chr12:49426643 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001266906]|Kabuki syndrome 1 [RCV000194362]|Kabuki syndrome [RCV001382673]|not provided [RCV000484393] |
Chr12:49026887 [GRCh38]
Chr12:49420670 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9540del (p.Glu3181fs) |
deletion |
Kabuki syndrome 1 [RCV000194379] |
Chr12:49037816 [GRCh38]
Chr12:49431599 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3591del (p.Thr1198fs) |
deletion |
Kabuki syndrome 1 [RCV000194782] |
Chr12:49049997 [GRCh38]
Chr12:49443780 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4182C>T (p.Leu1394=) |
single nucleotide variant |
Kabuki syndrome [RCV003753108]|not specified [RCV000194801] |
Chr12:49048019 [GRCh38]
Chr12:49441802 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.836dup (p.Cys279fs) |
duplication |
Kabuki syndrome 1 [RCV000194921]|Kabuki syndrome [RCV003588597] |
Chr12:49053478..49053479 [GRCh38]
Chr12:49447261..49447262 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs) |
duplication |
Kabuki syndrome 1 [RCV000195084] |
Chr12:49041928..49041929 [GRCh38]
Chr12:49435711..49435712 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.16469_16470del (p.Lys5490fs) |
deletion |
Kabuki syndrome 1 [RCV001810066]|Seizure [RCV001526529] |
Chr12:49022094..49022095 [GRCh38]
Chr12:49415877..49415878 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11770C>T (p.Gln3924Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000258937] |
Chr12:49032935 [GRCh38]
Chr12:49426718 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.1634del (p.Leu545fs) |
deletion |
Kabuki syndrome 1 [RCV003147432]|not provided [RCV000255383] |
Chr12:49052049 [GRCh38]
Chr12:49445832 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8214del (p.Phe2739fs) |
deletion |
not provided [RCV000756296] |
Chr12:49039450 [GRCh38]
Chr12:49433233 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 |
copy number gain |
See cases [RCV000207454] |
Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9703_9704del (p.Lys3235fs) |
deletion |
Kabuki syndrome [RCV000544434] |
Chr12:49037652..49037653 [GRCh38]
Chr12:49431435..49431436 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1258+3G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002516240]|KMT2D-related condition [RCV003929932]|Kabuki syndrome [RCV001078495]|not provided [RCV000224744] |
Chr12:49052561 [GRCh38]
Chr12:49446344 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13058C>T (p.Pro4353Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001854776]|not provided [RCV000223991] |
Chr12:49031647 [GRCh38]
Chr12:49425430 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000763854]|Kabuki syndrome [RCV001854046]|not provided [RCV000595782]|not specified [RCV001821725] |
Chr12:49040199 [GRCh38]
Chr12:49433982 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.571C>T (p.Arg191Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002527598]|not provided [RCV000519007] |
Chr12:49054080 [GRCh38]
Chr12:49447863 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.941C>G (p.Ser314Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659694]|Kabuki syndrome [RCV002534325] |
Chr12:49053220 [GRCh38]
Chr12:49447003 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1940del (p.Pro647fs) |
deletion |
Kabuki syndrome 1 [RCV000659698]|Lung cancer [RCV001809735]|not provided [RCV000728366] |
Chr12:49051743 [GRCh38]
Chr12:49445526 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.2110_2113delinsTC (p.Asp704fs) |
indel |
Kabuki syndrome 1 [RCV000659699] |
Chr12:49051570..49051573 [GRCh38]
Chr12:49445353..49445356 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) |
single nucleotide variant |
Intellectual disability [RCV001251815]|Kabuki syndrome 1 [RCV000659701]|Kabuki syndrome [RCV001868177] |
Chr12:49051474 [GRCh38]
Chr12:49445257 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3982C>T (p.Arg1328Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659712]|Kabuki syndrome [RCV002532008] |
Chr12:49049143 [GRCh38]
Chr12:49442926 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4130A>C (p.Gln1377Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659713] |
Chr12:49048660 [GRCh38]
Chr12:49442443 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4379del (p.Pro1460fs) |
deletion |
Kabuki syndrome 1 [RCV000659717] |
Chr12:49046648 [GRCh38]
Chr12:49440431 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4812dup (p.Met1605fs) |
duplication |
Kabuki syndrome [RCV000547428] |
Chr12:49044894..49044895 [GRCh38]
Chr12:49438677..49438678 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5755A>G (p.Thr1919Ala) |
single nucleotide variant |
not provided [RCV000520049] |
Chr12:49042768 [GRCh38]
Chr12:49436551 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs) |
duplication |
Inborn genetic diseases [RCV000623674] |
Chr12:49022591..49022592 [GRCh38]
Chr12:49416374..49416375 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4987G>T (p.Glu1663Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001807907] |
Chr12:49044499 [GRCh38]
Chr12:49438282 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) |
single nucleotide variant |
Kabuki syndrome [RCV000317680]|not provided [RCV001706337]|not specified [RCV000246264] |
Chr12:49026426 [GRCh38]
Chr12:49420209 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13465G>A (p.Gly4489Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001857908]|not specified [RCV000518659] |
Chr12:49031240 [GRCh38]
Chr12:49425023 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10508-11T>G |
single nucleotide variant |
Kabuki syndrome [RCV002519916]|not specified [RCV000241798] |
Chr12:49034310 [GRCh38]
Chr12:49428093 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3819C>T (p.Cys1273=) |
single nucleotide variant |
KMT2D-related condition [RCV003891918]|Kabuki syndrome [RCV002058137]|not provided [RCV000871792] |
Chr12:49049769 [GRCh38]
Chr12:49443552 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) |
single nucleotide variant |
Kabuki syndrome [RCV001520168]|not provided [RCV000908071]|not specified [RCV000244575] |
Chr12:49048701 [GRCh38]
Chr12:49442484 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4518C>A (p.Thr1506=) |
single nucleotide variant |
not specified [RCV000249524] |
Chr12:49046325 [GRCh38]
Chr12:49440108 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2785C>T (p.Leu929=) |
single nucleotide variant |
Kabuki syndrome [RCV003753109]|not specified [RCV000247305] |
Chr12:49050898 [GRCh38]
Chr12:49444681 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13884del (p.Thr4629fs) |
deletion |
Kabuki syndrome 1 [RCV000258009]|not provided [RCV003328578] |
Chr12:49030395 [GRCh38]
Chr12:49424178 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4204C>T (p.Gln1402Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000551228] |
Chr12:49047997 [GRCh38]
Chr12:49441780 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1725A>T (p.Pro575=) |
single nucleotide variant |
KMT2D-related condition [RCV003891917]|Kabuki syndrome [RCV001458637]|not provided [RCV000859816] |
Chr12:49051958 [GRCh38]
Chr12:49445741 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.1342C>A (p.Pro448Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003588641]|not specified [RCV000517940] |
Chr12:49052341 [GRCh38]
Chr12:49446124 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9034C>T (p.Leu3012=) |
single nucleotide variant |
Kabuki syndrome [RCV000876479]|not provided [RCV003389772]|not specified [RCV000247740] |
Chr12:49038322 [GRCh38]
Chr12:49432105 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) |
single nucleotide variant |
Kabuki syndrome [RCV001510352]|not provided [RCV001253877]|not specified [RCV000243270] |
Chr12:49043967 [GRCh38]
Chr12:49437750 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.16412G>A (p.Arg5471Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002527621]|not provided [RCV000520787] |
Chr12:49022280 [GRCh38]
Chr12:49416063 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8211C>T (p.Thr2737=) |
single nucleotide variant |
Kabuki syndrome [RCV002058138]|not provided [RCV003884436]|not specified [RCV000245840] |
Chr12:49039453 [GRCh38]
Chr12:49433236 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8547C>T (p.Ala2849=) |
single nucleotide variant |
Kabuki syndrome [RCV002058139]|not provided [RCV003391017]|not specified [RCV000250781] |
Chr12:49038809 [GRCh38]
Chr12:49432592 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.16469_16472del (p.Lys5490fs) |
deletion |
not provided [RCV000270228] |
Chr12:49022092..49022095 [GRCh38]
Chr12:49415875..49415878 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) |
single nucleotide variant |
KMT2D-related condition [RCV003967705]|Kabuki syndrome [RCV001859551]|not provided [RCV000271099]|not specified [RCV003151006] |
Chr12:49032666 [GRCh38]
Chr12:49426449 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14643+12G>A |
single nucleotide variant |
KMT2D-related condition [RCV003957508]|Kabuki syndrome 1 [RCV001196888]|Kabuki syndrome [RCV001523201]|not provided [RCV000337584] |
Chr12:49027791 [GRCh38]
Chr12:49421574 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) |
single nucleotide variant |
Kabuki syndrome [RCV000555230]|not provided [RCV000725339]|not specified [RCV000371888] |
Chr12:49040661 [GRCh38]
Chr12:49434444 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.16501C>T (p.Arg5501Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578361]|Kabuki syndrome [RCV000557296]|not provided [RCV000283712] |
Chr12:49022063 [GRCh38]
Chr12:49415846 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.5707C>T (p.Arg1903Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001249645]|Kabuki syndrome [RCV001230659]|not provided [RCV000284743] |
Chr12:49042816 [GRCh38]
Chr12:49436599 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.401-3A>G |
single nucleotide variant |
not provided [RCV000288258] |
Chr12:49054419 [GRCh38]
Chr12:49448202 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9367del (p.Glu3123fs) |
deletion |
not provided [RCV000294342] |
Chr12:49037989 [GRCh38]
Chr12:49431772 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3405A>G (p.Pro1135=) |
single nucleotide variant |
Kabuki syndrome [RCV002518839]|not provided [RCV000342265] |
Chr12:49050183 [GRCh38]
Chr12:49443966 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.840-6C>T |
single nucleotide variant |
KMT2D-related condition [RCV003947887]|Kabuki syndrome [RCV002055058]|not provided [RCV000309425] |
Chr12:49053327 [GRCh38]
Chr12:49447110 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.11342G>C (p.Ser3781Thr) |
single nucleotide variant |
not provided [RCV000344192] |
Chr12:49033363 [GRCh38]
Chr12:49427146 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) |
single nucleotide variant |
KMT2D-related condition [RCV003947886]|Kabuki syndrome [RCV002059167]|not provided [RCV000344376] |
Chr12:49051132 [GRCh38]
Chr12:49444915 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.15461G>A (p.Arg5154Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003897622]|Kabuki syndrome 1 [RCV000594764]|Kabuki syndrome [RCV000808309]|not provided [RCV000725904] |
Chr12:49026505 [GRCh38]
Chr12:49420288 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.14984C>G (p.Thr4995Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000763852]|Kabuki syndrome [RCV001297113]|not provided [RCV000381492] |
Chr12:49026982 [GRCh38]
Chr12:49420765 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15708_15717delinsTA (p.Gly5237fs) |
indel |
not provided [RCV000310931] |
Chr12:49026249..49026258 [GRCh38]
Chr12:49420032..49420041 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13999+1G>A |
single nucleotide variant |
not provided [RCV000315318] |
Chr12:49030279 [GRCh38]
Chr12:49424062 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5104C>T (p.Arg1702Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332283]|not provided [RCV000273130] |
Chr12:49044284 [GRCh38]
Chr12:49438067 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4389C>T (p.Thr1463=) |
single nucleotide variant |
Kabuki syndrome [RCV000872410]|not provided [RCV003391046]|not specified [RCV000280514] |
Chr12:49046638 [GRCh38]
Chr12:49440421 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2206C>T (p.Pro736Ser) |
single nucleotide variant |
Kabuki syndrome [RCV000952228]|not provided [RCV001651303]|not specified [RCV000314118] |
Chr12:49051477 [GRCh38]
Chr12:49445260 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7764C>G (p.His2588Gln) |
single nucleotide variant |
not provided [RCV000314684] |
Chr12:49040006 [GRCh38]
Chr12:49433789 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1779A>G (p.Pro593=) |
single nucleotide variant |
Kabuki syndrome [RCV003588610]|not provided [RCV000382903] |
Chr12:49051904 [GRCh38]
Chr12:49445687 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) |
single nucleotide variant |
KMT2D-related condition [RCV003957453]|Kabuki syndrome [RCV001444830]|not provided [RCV000316495] |
Chr12:49050741 [GRCh38]
Chr12:49444524 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002519127]|KMT2D-related condition [RCV003417888]|Kabuki syndrome [RCV003588609]|not provided [RCV000316534] |
Chr12:49053017 [GRCh38]
Chr12:49446800 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.1781C>T (p.Pro594Leu) |
single nucleotide variant |
not provided [RCV000351656] |
Chr12:49051902 [GRCh38]
Chr12:49445685 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4693+1G>T |
single nucleotide variant |
not provided [RCV000342109] |
Chr12:49046064 [GRCh38]
Chr12:49439847 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) |
single nucleotide variant |
Kabuki syndrome [RCV000334417]|not provided [RCV000725010] |
Chr12:49044207 [GRCh38]
Chr12:49437990 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.13898C>T (p.Ser4633Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002521979]|not provided [RCV000353239] |
Chr12:49030381 [GRCh38]
Chr12:49424164 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10232-4C>G |
single nucleotide variant |
not provided [RCV000321317] |
Chr12:49034939 [GRCh38]
Chr12:49428722 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3343T>C (p.Phe1115Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753110]|not provided [RCV000356470] |
Chr12:49050245 [GRCh38]
Chr12:49444028 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002059096]|not provided [RCV000394346] |
Chr12:49039941 [GRCh38]
Chr12:49433724 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.15143G>A (p.Arg5048His) |
single nucleotide variant |
KMT2D-related condition [RCV003417874]|Kabuki syndrome 1 [RCV000505249]|Kabuki syndrome [RCV001220983]|not provided [RCV000376655] |
Chr12:49026823 [GRCh38]
Chr12:49420606 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.1300del (p.Pro433_Leu434insTer) |
deletion |
Kabuki syndrome 1 [RCV002509342]|not provided [RCV000380261] |
Chr12:49052383 [GRCh38]
Chr12:49446166 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.16184G>A (p.Trp5395Ter) |
single nucleotide variant |
not provided [RCV000386298] |
Chr12:49022744 [GRCh38]
Chr12:49416527 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) |
single nucleotide variant |
KMT2D-related condition [RCV003949944]|Kabuki syndrome [RCV001083606]|not provided [RCV000259370] |
Chr12:49043370 [GRCh38]
Chr12:49437153 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.3813A>T (p.Leu1271=) |
single nucleotide variant |
Kabuki syndrome [RCV001498841]|not provided [RCV003391043]|not specified [RCV000396358] |
Chr12:49049775 [GRCh38]
Chr12:49443558 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.5139del (p.Pro1714fs) |
deletion |
not provided [RCV000395668] |
Chr12:49044249 [GRCh38]
Chr12:49438032 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9729C>T (p.Ser3243=) |
single nucleotide variant |
KMT2D-related condition [RCV003920048]|Kabuki syndrome [RCV002059105]|not provided [RCV000952422]|not specified [RCV000261538] |
Chr12:49037627 [GRCh38]
Chr12:49431410 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7629G>A (p.Gly2543=) |
single nucleotide variant |
Kabuki syndrome [RCV003588608]|not provided [RCV000261275] |
Chr12:49040141 [GRCh38]
Chr12:49433924 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.7478G>A (p.Gly2493Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003977727]|Kabuki syndrome [RCV002059072]|not provided [RCV000878639]|not specified [RCV000294793] |
Chr12:49040292 [GRCh38]
Chr12:49434075 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5503C>T (p.Arg1835Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002519328]|not provided [RCV000362351] |
Chr12:49043393 [GRCh38]
Chr12:49437176 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2088_2114del (p.Thr698_Pro706del) |
deletion |
KMT2D-related condition [RCV003957443]|Kabuki syndrome [RCV000884144]|not provided [RCV001651312]|not specified [RCV000401238] |
Chr12:49051569..49051595 [GRCh38]
Chr12:49445352..49445378 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3641G>A (p.Gly1214Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002518897]|not provided [RCV000263647] |
Chr12:49049947 [GRCh38]
Chr12:49443730 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7934G>A (p.Arg2645Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002519094]|not provided [RCV000263871] |
Chr12:49039836 [GRCh38]
Chr12:49433619 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12728A>C (p.Tyr4243Ser) |
single nucleotide variant |
not provided [RCV000330897] |
Chr12:49031977 [GRCh38]
Chr12:49425760 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003920166]|Kabuki syndrome [RCV003114459]|not provided [RCV000366916] |
Chr12:49041361 [GRCh38]
Chr12:49435144 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del) |
deletion |
Kabuki syndrome [RCV001855097]|not provided [RCV000265667] |
Chr12:49032812..49032841 [GRCh38]
Chr12:49426595..49426624 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001287103]|Kabuki syndrome [RCV001403678]|not provided [RCV000265067] |
Chr12:49038974 [GRCh38]
Chr12:49432757 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.15274T>C (p.Cys5092Arg) |
single nucleotide variant |
not provided [RCV000298715] |
Chr12:49026692 [GRCh38]
Chr12:49420475 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.192G>A (p.Arg64=) |
single nucleotide variant |
Kabuki syndrome [RCV002059077]|not provided [RCV000300231] |
Chr12:49054736 [GRCh38]
Chr12:49448519 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) |
single nucleotide variant |
Inborn genetic diseases [RCV002522043]|KMT2D-related condition [RCV003977814]|Kabuki syndrome [RCV001323700]|not provided [RCV000368766] |
Chr12:49037882 [GRCh38]
Chr12:49431665 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000851303]|Kabuki syndrome [RCV001859633]|not provided [RCV000405022] |
Chr12:49030408 [GRCh38]
Chr12:49424191 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8650dup (p.Val2884fs) |
duplication |
not provided [RCV000262957] |
Chr12:49038705..49038706 [GRCh38]
Chr12:49432488..49432489 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16522-4T>G |
single nucleotide variant |
Kabuki syndrome [RCV001087369]|not provided [RCV000268029] |
Chr12:49021876 [GRCh38]
Chr12:49415659 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.5899G>A (p.Gly1967Ser) |
single nucleotide variant |
not provided [RCV000334946] |
Chr12:49042299 [GRCh38]
Chr12:49436082 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5892G>A (p.Pro1964=) |
single nucleotide variant |
Kabuki syndrome [RCV003588611]|not provided [RCV000370796] |
Chr12:49042306 [GRCh38]
Chr12:49436089 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659719]|Kabuki syndrome [RCV000369551]|not provided [RCV001706411]|not specified [RCV000405479] |
Chr12:49046626 [GRCh38]
Chr12:49440409 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4814T>C (p.Met1605Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002550944]|Kabuki syndrome 1 [RCV001374609] |
Chr12:49044893 [GRCh38]
Chr12:49438676 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001270380]|Kabuki syndrome [RCV003753170] |
Chr12:49050527 [GRCh38]
Chr12:49444310 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6183+28G>A |
single nucleotide variant |
not provided [RCV001565757] |
Chr12:49041889 [GRCh38]
Chr12:49435672 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9574C>A (p.Pro3192Thr) |
single nucleotide variant |
not provided [RCV003314963] |
Chr12:49037782 [GRCh38]
Chr12:49431565 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16361del (p.Arg5454fs) |
deletion |
not provided [RCV003325329] |
Chr12:49022331 [GRCh38]
Chr12:49416114 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4741+276del |
deletion |
not provided [RCV001547095] |
Chr12:49045644 [GRCh38]
Chr12:49439427 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8841_8844del (p.His2947fs) |
deletion |
not provided [RCV000514737] |
Chr12:49038512..49038515 [GRCh38]
Chr12:49432295..49432298 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4344_4345del (p.Cys1448_Asp1449delinsTer) |
microsatellite |
not provided [RCV000487709] |
Chr12:49046682..49046683 [GRCh38]
Chr12:49440465..49440466 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13685T>C (p.Leu4562Pro) |
single nucleotide variant |
not provided [RCV000585405] |
Chr12:49030755 [GRCh38]
Chr12:49424538 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13543dup (p.Arg4515fs) |
duplication |
Kabuki syndrome 1 [RCV001269293] |
Chr12:49031020..49031021 [GRCh38]
Chr12:49424803..49424804 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) |
microsatellite |
KMT2D-related condition [RCV003945379]|Kabuki syndrome 1 [RCV000659796]|Kabuki syndrome [RCV001523073]|not provided [RCV000598083]|not specified [RCV001821717] |
Chr12:49032946..49032947 [GRCh38]
Chr12:49426729..49426730 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578142]|Kabuki syndrome [RCV003753126] |
Chr12:49054743 [GRCh38]
Chr12:49448526 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11800C>T (p.Gln3934Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578144] |
Chr12:49032905 [GRCh38]
Chr12:49426688 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9962_9993del (p.Arg3321fs) |
deletion |
not provided [RCV002280070] |
Chr12:49037363..49037394 [GRCh38]
Chr12:49431146..49431177 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4280G>A (p.Cys1427Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV000623805] |
Chr12:49046747 [GRCh38]
Chr12:49440530 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.3(KMT2D):c.*2354G>T |
single nucleotide variant |
Kabuki syndrome [RCV000304269] |
Chr12:49019426 [GRCh38]
Chr12:49413209 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7607T>C (p.Phe2536Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003920282]|Kabuki syndrome [RCV001520410]|not provided [RCV001653516] |
Chr12:49040163 [GRCh38]
Chr12:49433946 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.3(KMT2D):c.14207C>T (p.Ala4736Val) |
single nucleotide variant |
Kabuki syndrome [RCV000308151] |
Chr12:49029105 [GRCh38]
Chr12:49422888 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2995A>G (p.Met999Val) |
single nucleotide variant |
Kabuki syndrome [RCV002736339] |
Chr12:49050593 [GRCh38]
Chr12:49444376 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14161C>T (p.Arg4721Cys) |
single nucleotide variant |
Kabuki syndrome [RCV000308871] |
Chr12:49029151 [GRCh38]
Chr12:49422934 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs) |
microsatellite |
Inborn genetic diseases [RCV002519267]|Kabuki syndrome 1 [RCV000400113]|not provided [RCV000725909] |
Chr12:49044263..49044264 [GRCh38]
Chr12:49438046..49438047 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_003482.3(KMT2D):c.4571G>A (p.Arg1524His) |
single nucleotide variant |
Kabuki syndrome [RCV000312179] |
Chr12:49046272 [GRCh38]
Chr12:49440055 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10179G>A (p.Pro3393=) |
single nucleotide variant |
KMT2D-related condition [RCV003957600]|Kabuki syndrome [RCV000312733]|not provided [RCV003311748] |
Chr12:49037177 [GRCh38]
Chr12:49430960 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9958G>A (p.Ala3320Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003752895] |
Chr12:49037398 [GRCh38]
Chr12:49431181 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.*108G>C |
single nucleotide variant |
Kabuki syndrome [RCV000314556] |
Chr12:49021672 [GRCh38]
Chr12:49415455 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3180G>T (p.Lys1060Asn) |
single nucleotide variant |
KMT2D-related condition [RCV003975953]|not provided [RCV001682053] |
Chr12:49050408 [GRCh38]
Chr12:49444191 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13630G>A (p.Gly4544Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590917] |
Chr12:49030934 [GRCh38]
Chr12:49424717 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8068C>T (p.Leu2690=) |
single nucleotide variant |
Kabuki syndrome [RCV000315672]|not provided [RCV001567101] |
Chr12:49039596 [GRCh38]
Chr12:49433379 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.2737G>A (p.Glu913Lys) |
single nucleotide variant |
KMT2D-related condition [RCV003409476]|Kabuki syndrome [RCV001346479] |
Chr12:49050946 [GRCh38]
Chr12:49444729 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4379C>A (p.Pro1460Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003314425] |
Chr12:49046648 [GRCh38]
Chr12:49440431 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7122C>T (p.Tyr2374=) |
single nucleotide variant |
KMT2D-related condition [RCV003940178]|Kabuki syndrome [RCV001414425] |
Chr12:49040648 [GRCh38]
Chr12:49434431 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2420C>A (p.Ser807Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003015352]|Kabuki syndrome [RCV002132304] |
Chr12:49051263 [GRCh38]
Chr12:49445046 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002520810]|Kabuki syndrome 1 [RCV000768006]|Kabuki syndrome 1 [RCV003224256]|Kabuki syndrome [RCV001859847]|not provided [RCV000733020] |
Chr12:49026272 [GRCh38]
Chr12:49420055 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.8230-14C>T |
single nucleotide variant |
Kabuki syndrome [RCV002193793] |
Chr12:49039372 [GRCh38]
Chr12:49433155 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.16566G>A (p.Lys5522=) |
single nucleotide variant |
Kabuki syndrome [RCV002117739] |
Chr12:49021828 [GRCh38]
Chr12:49415611 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11313C>A (p.Pro3771=) |
single nucleotide variant |
Kabuki syndrome [RCV000325004]|not provided [RCV001558202] |
Chr12:49033392 [GRCh38]
Chr12:49427175 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.3(KMT2D):c.695G>C (p.Cys232Ser) |
single nucleotide variant |
Kabuki syndrome [RCV000325324] |
Chr12:49053620 [GRCh38]
Chr12:49447403 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*1322A>G |
single nucleotide variant |
Kabuki syndrome [RCV000327611] |
Chr12:49020458 [GRCh38]
Chr12:49414241 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5594C>T (p.Thr1865Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002659617] |
Chr12:49043126 [GRCh38]
Chr12:49436909 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4000T>G (p.Ser1334Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003394286]|Kabuki syndrome [RCV002033307] |
Chr12:49049125 [GRCh38]
Chr12:49442908 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.8901C>G (p.Pro2967=) |
single nucleotide variant |
Kabuki syndrome [RCV000329228] |
Chr12:49038455 [GRCh38]
Chr12:49432238 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7036G>A (p.Gly2346Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003079145] |
Chr12:49040734 [GRCh38]
Chr12:49434517 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001512878]|not specified [RCV002248517] |
Chr12:49031446 [GRCh38]
Chr12:49425229 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2220G>T (p.Gly740=) |
single nucleotide variant |
Kabuki syndrome [RCV002073377]|not provided [RCV001724586] |
Chr12:49051463 [GRCh38]
Chr12:49445246 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11670C>T (p.Ser3890=) |
single nucleotide variant |
Kabuki syndrome [RCV000333307]|not provided [RCV000712302] |
Chr12:49033035 [GRCh38]
Chr12:49426818 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.3(KMT2D):c.*1540A>G |
single nucleotide variant |
Kabuki syndrome [RCV000333651] |
Chr12:49020240 [GRCh38]
Chr12:49414023 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002502213]|Kabuki syndrome [RCV001510689]|not provided [RCV001618541]|not specified [RCV000518287] |
Chr12:49042324 [GRCh38]
Chr12:49436107 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6042G>T (p.Gln2014His) |
single nucleotide variant |
Kabuki syndrome [RCV000528127] |
Chr12:49042156 [GRCh38]
Chr12:49435939 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7643dup (p.Pro2549fs) |
duplication |
not provided [RCV000366627] |
Chr12:49040126..49040127 [GRCh38]
Chr12:49433909..49433910 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15085A>C (p.Met5029Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002998902] |
Chr12:49026881 [GRCh38]
Chr12:49420664 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3471C>T (p.Pro1157=) |
single nucleotide variant |
Kabuki syndrome [RCV002154985] |
Chr12:49050117 [GRCh38]
Chr12:49443900 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4694C>T (p.Ala1565Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589414] |
Chr12:49045967 [GRCh38]
Chr12:49439750 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.*298C>T |
single nucleotide variant |
Kabuki syndrome [RCV000338587] |
Chr12:49021482 [GRCh38]
Chr12:49415265 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*456C>G |
single nucleotide variant |
Kabuki syndrome [RCV000339734] |
Chr12:49021324 [GRCh38]
Chr12:49415107 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5231G>A (p.Ser1744Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002538731]|not provided [RCV001754248] |
Chr12:49043956 [GRCh38]
Chr12:49437739 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11162TGCAGC[3] (p.3721LQ[3]) |
microsatellite |
KMT2D-related condition [RCV003967895]|Kabuki syndrome [RCV000341132]|not provided [RCV000519066] |
Chr12:49033531..49033532 [GRCh38]
Chr12:49427314..49427315 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.10741-7A>G |
single nucleotide variant |
KMT2D-related condition [RCV003897710]|Kabuki syndrome [RCV001521254]|not provided [RCV000594856] |
Chr12:49033971 [GRCh38]
Chr12:49427754 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.*2208T>C |
single nucleotide variant |
Kabuki syndrome [RCV000342840] |
Chr12:49019572 [GRCh38]
Chr12:49413355 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003897709]|Kabuki syndrome [RCV000343007]|not provided [RCV000513861] |
Chr12:49032181 [GRCh38]
Chr12:49425964 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.401-2A>T |
single nucleotide variant |
not provided [RCV000521144] |
Chr12:49054418 [GRCh38]
Chr12:49448201 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1994C>T (p.Pro665Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001851443]|not specified [RCV000517331] |
Chr12:49051689 [GRCh38]
Chr12:49445472 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3161C>T (p.Pro1054Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001899007]|not provided [RCV003389886] |
Chr12:49050427 [GRCh38]
Chr12:49444210 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.*2549G>A |
single nucleotide variant |
Kabuki syndrome [RCV000343934] |
Chr12:49019231 [GRCh38]
Chr12:49413014 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*1026G>T |
single nucleotide variant |
Kabuki syndrome [RCV000345404] |
Chr12:49020754 [GRCh38]
Chr12:49414537 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6704G>A (p.Arg2235Lys) |
single nucleotide variant |
KMT2D-related condition [RCV003957601]|Kabuki syndrome [RCV000347188]|not provided [RCV001706469] |
Chr12:49041066 [GRCh38]
Chr12:49434849 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.3(KMT2D):c.*2804A>G |
single nucleotide variant |
Kabuki syndrome [RCV000349083] |
Chr12:49018976 [GRCh38]
Chr12:49412759 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3298G>C (p.Asp1100His) |
single nucleotide variant |
Kabuki syndrome [RCV003822231] |
Chr12:49050290 [GRCh38]
Chr12:49444073 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14436C>T (p.Pro4812=) |
single nucleotide variant |
Kabuki syndrome [RCV000352336] |
Chr12:49028088 [GRCh38]
Chr12:49421871 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.1966del (p.Leu656fs) |
deletion |
not provided [RCV000320292] |
Chr12:49051717 [GRCh38]
Chr12:49445500 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.3(KMT2D):c.*1694A>T |
single nucleotide variant |
Kabuki syndrome [RCV000354610] |
Chr12:49020086 [GRCh38]
Chr12:49413869 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*2044C>A |
single nucleotide variant |
Kabuki syndrome [RCV000355265] |
Chr12:49019736 [GRCh38]
Chr12:49413519 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6416C>T (p.Ala2139Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002562966]|KMT2D-related condition [RCV003893193]|Kabuki syndrome [RCV002218454] |
Chr12:49041354 [GRCh38]
Chr12:49435137 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.2671T>G (p.Leu891Val) |
single nucleotide variant |
Kabuki syndrome [RCV000354974] |
Chr12:49051012 [GRCh38]
Chr12:49444795 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14075+11G>C |
single nucleotide variant |
Kabuki syndrome [RCV002138945] |
Chr12:49029390 [GRCh38]
Chr12:49423173 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6585C>T (p.Thr2195=) |
single nucleotide variant |
Kabuki syndrome [RCV002142232] |
Chr12:49041185 [GRCh38]
Chr12:49434968 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.14203C>T (p.Arg4735Trp) |
single nucleotide variant |
Kabuki syndrome [RCV000362947] |
Chr12:49029109 [GRCh38]
Chr12:49422892 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11713C>T (p.Gln3905Ter) |
single nucleotide variant |
not provided [RCV000296335] |
Chr12:49032992 [GRCh38]
Chr12:49426775 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13633G>T (p.Val4545Phe) |
single nucleotide variant |
KMT2D-related condition [RCV003984332]|Kabuki syndrome [RCV003080279] |
Chr12:49030931 [GRCh38]
Chr12:49424714 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.*69G>T |
single nucleotide variant |
Kabuki syndrome [RCV000369191] |
Chr12:49021711 [GRCh38]
Chr12:49415494 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1155C>T (p.Pro385=) |
single nucleotide variant |
Kabuki syndrome [RCV000369196] |
Chr12:49052667 [GRCh38]
Chr12:49446450 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.3(KMT2D):c.*204C>G |
single nucleotide variant |
Kabuki syndrome [RCV000370041] |
Chr12:49021576 [GRCh38]
Chr12:49415359 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) |
single nucleotide variant |
KMT2D-related condition [RCV003957602]|Kabuki syndrome 1 [RCV001801757]|Kabuki syndrome [RCV000372016]|not provided [RCV001706471]|not specified [RCV000503099] |
Chr12:49049851 [GRCh38]
Chr12:49443634 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.15120C>T (p.Asp5040=) |
single nucleotide variant |
Kabuki syndrome [RCV000372372]|not specified [RCV001820910] |
Chr12:49026846 [GRCh38]
Chr12:49420629 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7060C>T (p.Pro2354Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003910141]|Kabuki syndrome [RCV001511129]|not provided [RCV001556279] |
Chr12:49040710 [GRCh38]
Chr12:49434493 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13457A>G (p.Glu4486Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002594184] |
Chr12:49031248 [GRCh38]
Chr12:49425031 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14075+1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002524612]|Kabuki syndrome 1 [RCV000408635]|Kabuki syndrome [RCV002523836] |
Chr12:49029400 [GRCh38]
Chr12:49423183 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.7249T>G (p.Ser2417Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000408806] |
Chr12:49040521 [GRCh38]
Chr12:49434304 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.*1982del |
deletion |
Kabuki syndrome [RCV000262807] |
Chr12:49019798 [GRCh38]
Chr12:49413581 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.11945G>C (p.Arg3982Pro) |
single nucleotide variant |
Kabuki syndrome [RCV000263556] |
Chr12:49032760 [GRCh38]
Chr12:49426543 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3408G>A (p.Glu1136=) |
single nucleotide variant |
KMT2D-related condition [RCV003930311]|Kabuki syndrome [RCV000375601]|not provided [RCV001706472] |
Chr12:49050180 [GRCh38]
Chr12:49443963 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3976C>T (p.Arg1326Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002016070] |
Chr12:49049149 [GRCh38]
Chr12:49442932 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.188T>C (p.Val63Ala) |
single nucleotide variant |
not provided [RCV003131401] |
Chr12:49054740 [GRCh38]
Chr12:49448523 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8156G>C (p.Ser2719Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001914169] |
Chr12:49039508 [GRCh38]
Chr12:49433291 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.*815C>T |
single nucleotide variant |
Kabuki syndrome [RCV000378978] |
Chr12:49020965 [GRCh38]
Chr12:49414748 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15686G>A (p.Arg5229His) |
single nucleotide variant |
not provided [RCV003390222] |
Chr12:49026280 [GRCh38]
Chr12:49420063 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12803G>A (p.Gly4268Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003589772] |
Chr12:49031902 [GRCh38]
Chr12:49425685 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001510545]|not provided [RCV003391103]|not specified [RCV000517442] |
Chr12:49053633 [GRCh38]
Chr12:49447416 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8813C>T (p.Pro2938Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003950048]|Kabuki syndrome [RCV001520969]|not provided [RCV001642962] |
Chr12:49038543 [GRCh38]
Chr12:49432326 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11195A>G (p.Gln3732Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003752793] |
Chr12:49033510 [GRCh38]
Chr12:49427293 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.*1043del |
deletion |
Kabuki syndrome [RCV000384545] |
Chr12:49020737 [GRCh38]
Chr12:49414520 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.5492A>T (p.Asp1831Val) |
single nucleotide variant |
Kabuki syndrome [RCV000384898] |
Chr12:49043404 [GRCh38]
Chr12:49437187 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.3(KMT2D):c.*1529G>C |
single nucleotide variant |
Kabuki syndrome [RCV000385616] |
Chr12:49020251 [GRCh38]
Chr12:49414034 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13071G>C (p.Arg4357Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003421043]|Kabuki syndrome [RCV003588909] |
Chr12:49031634 [GRCh38]
Chr12:49425417 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.2406G>A (p.Glu802=) |
single nucleotide variant |
Kabuki syndrome [RCV000386426] |
Chr12:49051277 [GRCh38]
Chr12:49445060 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*2645T>C |
single nucleotide variant |
Kabuki syndrome [RCV000387174] |
Chr12:49019135 [GRCh38]
Chr12:49412918 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10440+5G>C |
single nucleotide variant |
not provided [RCV000522040] |
Chr12:49034577 [GRCh38]
Chr12:49428360 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15786C>T (p.Ala5262=) |
single nucleotide variant |
KMT2D-related condition [RCV003898770]|Kabuki syndrome [RCV003075373] |
Chr12:49024945 [GRCh38]
Chr12:49418728 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7202G>A (p.Arg2401His) |
single nucleotide variant |
Kabuki syndrome [RCV000268076] |
Chr12:49040568 [GRCh38]
Chr12:49434351 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2798-8C>G |
single nucleotide variant |
KMT2D-related condition [RCV003978639]|Kabuki syndrome [RCV002101410] |
Chr12:49050798 [GRCh38]
Chr12:49444581 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9709G>A (p.Glu3237Lys) |
single nucleotide variant |
KMT2D-related condition [RCV003948808]|Kabuki syndrome [RCV001898959] |
Chr12:49037647 [GRCh38]
Chr12:49431430 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6868G>A (p.Glu2290Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003850777] |
Chr12:49040902 [GRCh38]
Chr12:49434685 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*455A>C |
single nucleotide variant |
Kabuki syndrome [RCV000392676] |
Chr12:49021325 [GRCh38]
Chr12:49415108 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14883C>T (p.Pro4961=) |
single nucleotide variant |
KMT2D-related condition [RCV003897708]|Kabuki syndrome [RCV002056299] |
Chr12:49027083 [GRCh38]
Chr12:49420866 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.3(KMT2D):c.*127C>G |
single nucleotide variant |
Kabuki syndrome [RCV000398213] |
Chr12:49021653 [GRCh38]
Chr12:49415436 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13324del (p.Ala4442fs) |
deletion |
not provided [RCV000298742] |
Chr12:49031381 [GRCh38]
Chr12:49425164 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11380C>T (p.Pro3794Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001425149]|not provided [RCV000945532]|not specified [RCV000597321] |
Chr12:49033325 [GRCh38]
Chr12:49427108 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.3(KMT2D):c.5648T>C (p.Leu1883Pro) |
single nucleotide variant |
Kabuki syndrome [RCV000270555] |
Chr12:49042875 [GRCh38]
Chr12:49436658 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1259-13G>A |
single nucleotide variant |
Kabuki syndrome [RCV002056301]|not provided [RCV001718629] |
Chr12:49052437 [GRCh38]
Chr12:49446220 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11671G>A (p.Ala3891Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001894377]|not provided [RCV003883713] |
Chr12:49033034 [GRCh38]
Chr12:49426817 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.*296del |
deletion |
Kabuki syndrome [RCV000402706] |
Chr12:49021484 [GRCh38]
Chr12:49415267 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*2387C>T |
single nucleotide variant |
Kabuki syndrome [RCV000402988] |
Chr12:49019393 [GRCh38]
Chr12:49413176 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*2146C>A |
single nucleotide variant |
Kabuki syndrome [RCV000403337] |
Chr12:49019634 [GRCh38]
Chr12:49413417 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.3(KMT2D):c.12691C>T (p.Leu4231=) |
single nucleotide variant |
Kabuki syndrome [RCV000404716] |
Chr12:49032014 [GRCh38]
Chr12:49425797 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4584-10T>C |
single nucleotide variant |
Kabuki syndrome [RCV002112872] |
Chr12:49046184 [GRCh38]
Chr12:49439967 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14202C>T (p.Asp4734=) |
single nucleotide variant |
Kabuki syndrome [RCV000405043]|not provided [RCV001795928] |
Chr12:49029110 [GRCh38]
Chr12:49422893 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.7656T>C (p.Pro2552=) |
single nucleotide variant |
Kabuki syndrome [RCV002056300]|not provided [RCV000712312] |
Chr12:49040114 [GRCh38]
Chr12:49433897 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.1446A>G (p.Ala482=) |
single nucleotide variant |
Kabuki syndrome [RCV000406302] |
Chr12:49052237 [GRCh38]
Chr12:49446020 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7970C>T (p.Ala2657Val) |
single nucleotide variant |
Kabuki syndrome [RCV002958499] |
Chr12:49039800 [GRCh38]
Chr12:49433583 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3181G>T (p.Val1061Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003967897]|not provided [RCV001537407] |
Chr12:49050407 [GRCh38]
Chr12:49444190 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3156C>T (p.Pro1052=) |
single nucleotide variant |
Kabuki syndrome [RCV002195807] |
Chr12:49050432 [GRCh38]
Chr12:49444215 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14688C>A (p.Tyr4896Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000530361] |
Chr12:49027278 [GRCh38]
Chr12:49421061 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12454C>T (p.Leu4152Phe) |
single nucleotide variant |
not specified [RCV000518746] |
Chr12:49032251 [GRCh38]
Chr12:49426034 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9041_9042del (p.Leu3014fs) |
deletion |
not provided [RCV000299524] |
Chr12:49038314..49038315 [GRCh38]
Chr12:49432097..49432098 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.3(KMT2D):c.*1693G>A |
single nucleotide variant |
Kabuki syndrome [RCV000276249] |
Chr12:49020087 [GRCh38]
Chr12:49413870 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1076G>A (p.Arg359His) |
single nucleotide variant |
Kabuki syndrome [RCV001907786] |
Chr12:49052951 [GRCh38]
Chr12:49446734 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003967896]|Kabuki syndrome 1 [RCV000659716]|Kabuki syndrome [RCV000277260]|not provided [RCV001706470] |
Chr12:49048038 [GRCh38]
Chr12:49441821 [GRCh37]
Chr12:12q13.12 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.3(KMT2D):c.9959C>T (p.Ala3320Val) |
single nucleotide variant |
Kabuki syndrome [RCV000277565] |
Chr12:49037397 [GRCh38]
Chr12:49431180 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*1505T>G |
single nucleotide variant |
Kabuki syndrome [RCV000274833] |
Chr12:49020275 [GRCh38]
Chr12:49414058 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13386C>T (p.Leu4462=) |
single nucleotide variant |
Kabuki syndrome [RCV003752848] |
Chr12:49031319 [GRCh38]
Chr12:49425102 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.*362C>T |
single nucleotide variant |
Kabuki syndrome [RCV000281227] |
Chr12:49021418 [GRCh38]
Chr12:49415201 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5251AAG[2] (p.Lys1753del) |
microsatellite |
KMT2D-related condition [RCV003401308]|Kabuki syndrome [RCV000283653] |
Chr12:49043928..49043930 [GRCh38]
Chr12:49437711..49437713 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6673dup (p.Glu2225fs) |
duplication |
Kabuki syndrome [RCV000553893] |
Chr12:49041096..49041097 [GRCh38]
Chr12:49434879..49434880 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.3(KMT2D):c.*463dup |
duplication |
Kabuki syndrome [RCV000286896] |
Chr12:49021316..49021317 [GRCh38]
Chr12:49415099..49415100 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12780A>G (p.Gln4260=) |
single nucleotide variant |
Kabuki syndrome [RCV002016084] |
Chr12:49031925 [GRCh38]
Chr12:49425708 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.*1041G>T |
single nucleotide variant |
not provided [RCV003391773] |
Chr12:49020739 [GRCh38]
Chr12:49414522 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11178A>G (p.Gln3726=) |
single nucleotide variant |
Kabuki syndrome [RCV003092081] |
Chr12:49033527 [GRCh38]
Chr12:49427310 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.295C>T (p.Pro99Ser) |
single nucleotide variant |
Kabuki syndrome [RCV000290100] |
Chr12:49054633 [GRCh38]
Chr12:49448416 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*2642C>T |
single nucleotide variant |
Kabuki syndrome [RCV000290576] |
Chr12:49019138 [GRCh38]
Chr12:49412921 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) |
single nucleotide variant |
KMT2D-related condition [RCV003910142]|Kabuki syndrome [RCV000291973]|not provided [RCV001706473]|not specified [RCV000732456] |
Chr12:49051718 [GRCh38]
Chr12:49445501 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13207_13208del (p.Asn4403fs) |
deletion |
Kabuki syndrome 1 [RCV000578129] |
Chr12:49031497..49031498 [GRCh38]
Chr12:49425280..49425281 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12304C>T (p.Gln4102Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578136] |
Chr12:49032401 [GRCh38]
Chr12:49426184 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3352C>T (p.Leu1118=) |
single nucleotide variant |
Kabuki syndrome [RCV002899888] |
Chr12:49050236 [GRCh38]
Chr12:49444019 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.3(KMT2D):c.12945A>C (p.Gln4315His) |
single nucleotide variant |
Kabuki syndrome [RCV000296198] |
Chr12:49031760 [GRCh38]
Chr12:49425543 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.*1982T>A |
single nucleotide variant |
Kabuki syndrome [RCV000297379] |
Chr12:49019798 [GRCh38]
Chr12:49413581 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13005G>T (p.Gln4335His) |
single nucleotide variant |
Inborn genetic diseases [RCV000622266]|KMT2D-related condition [RCV003892401] |
Chr12:49031700 [GRCh38]
Chr12:49425483 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622445]|Intellectual disability [RCV001257646]|KMT2D-related condition [RCV003905667]|Kabuki syndrome 1 [RCV000659734]|not provided [RCV000760463] |
Chr12:49041475 [GRCh38]
Chr12:49435258 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12084C>T (p.Thr4028=) |
single nucleotide variant |
Kabuki syndrome [RCV001521038]|not provided [RCV000952073] |
Chr12:49032621 [GRCh38]
Chr12:49426404 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6437C>T (p.Pro2146Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003930310]|Kabuki syndrome 1 [RCV000659735]|Kabuki syndrome [RCV001850631]|not provided [RCV001355052]|not specified [RCV001820911] |
Chr12:49041333 [GRCh38]
Chr12:49435116 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.*207C>T |
single nucleotide variant |
Kabuki syndrome [RCV000298929] |
Chr12:49021573 [GRCh38]
Chr12:49415356 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001002444]|Kabuki syndrome [RCV001859848] |
Chr12:49044842 [GRCh38]
Chr12:49438625 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11850GCA[1] (p.Gln3954del) |
microsatellite |
Kabuki syndrome [RCV000300051] |
Chr12:49032850..49032852 [GRCh38]
Chr12:49426633..49426635 [GRCh37]
Chr12:12q13.12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.12682C>G (p.Gln4228Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002020278] |
Chr12:49032023 [GRCh38]
Chr12:49425806 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.3(KMT2D):c.*2077G>A |
single nucleotide variant |
Kabuki syndrome [RCV000302791] |
Chr12:49019703 [GRCh38]
Chr12:49413486 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.70G>T (p.Glu24Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622718] |
Chr12:49055006 [GRCh38]
Chr12:49448789 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.3827G>A (p.Gly1276Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV000622895] |
Chr12:49049761 [GRCh38]
Chr12:49443544 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4941del (p.Asp1648fs) |
deletion |
Inborn genetic diseases [RCV000622920] |
Chr12:49044766 [GRCh38]
Chr12:49438549 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9265dup (p.Val3089fs) |
duplication |
not provided [RCV000591626] |
Chr12:49038090..49038091 [GRCh38]
Chr12:49431873..49431874 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16589G>A (p.Trp5530Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622706] |
Chr12:49021805 [GRCh38]
Chr12:49415588 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000622781]|KMT2D-related condition [RCV003411474]|Kabuki syndrome 1 [RCV000763851]|Kabuki syndrome [RCV001855304]|not specified [RCV001821758] |
Chr12:49026886 [GRCh38]
Chr12:49420669 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7456C>T (p.His2486Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV001854069]|not provided [RCV000592375] |
Chr12:49040314 [GRCh38]
Chr12:49434097 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000768010]|Kabuki syndrome 1 [RCV003224416]|Kabuki syndrome [RCV002533930] |
Chr12:49040769 [GRCh38]
Chr12:49434552 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000768255]|Kabuki syndrome 1 [RCV003224446]|Kabuki syndrome [RCV002533939] |
Chr12:49052275 [GRCh38]
Chr12:49446058 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13671+14A>C |
single nucleotide variant |
Kabuki syndrome [RCV002062073]|not provided [RCV000598545] |
Chr12:49030879 [GRCh38]
Chr12:49424662 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11214del (p.Gln3738fs) |
deletion |
not provided [RCV000592009] |
Chr12:49033491 [GRCh38]
Chr12:49427274 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12268C>T (p.Gln4090Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578134] |
Chr12:49032437 [GRCh38]
Chr12:49426220 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.3618C>T (p.Asn1206=) |
single nucleotide variant |
Kabuki syndrome [RCV002060246]|not provided [RCV001712479]|not specified [RCV000516467] |
Chr12:49049970 [GRCh38]
Chr12:49443753 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002506423]|Kabuki syndrome [RCV001087803]|not provided [RCV000712308]|not specified [RCV000592684] |
Chr12:49042122 [GRCh38]
Chr12:49435905 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9306del (p.Ala3103fs) |
deletion |
Kabuki syndrome 1 [RCV000578303] |
Chr12:49038050 [GRCh38]
Chr12:49431833 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6664C>T (p.Gln2222Ter) |
single nucleotide variant |
not provided [RCV000578501] |
Chr12:49041106 [GRCh38]
Chr12:49434889 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15785-10T>G |
single nucleotide variant |
not provided [RCV000579095] |
Chr12:49024956 [GRCh38]
Chr12:49418739 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8311C>T (p.Arg2771Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000856808]|Kabuki syndrome [RCV001854121]|not provided [RCV000598596] |
Chr12:49039277 [GRCh38]
Chr12:49433060 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9937_9939delinsA (p.Leu3313fs) |
indel |
not provided [RCV000596601] |
Chr12:49037417..49037419 [GRCh38]
Chr12:49431200..49431202 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=) |
single nucleotide variant |
not provided [RCV000597517] |
Chr12:49033401 [GRCh38]
Chr12:49427184 [GRCh37]
Chr12:12q13.12 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.1367C>T (p.Ser456Leu) |
single nucleotide variant |
not specified [RCV000517068] |
Chr12:49052316 [GRCh38]
Chr12:49446099 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11470_11471delinsAT (p.His3824Ile) |
indel |
not specified [RCV000598980] |
Chr12:49033234..49033235 [GRCh38]
Chr12:49427017..49427018 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2624_2625delinsAGGCCAAAA (p.Pro875fs) |
indel |
not provided [RCV000593178] |
Chr12:49051058..49051059 [GRCh38]
Chr12:49444841..49444842 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15876G>C (p.Glu5292Asp) |
single nucleotide variant |
Astrocytoma [RCV000599612] |
Chr12:49024855 [GRCh38]
Chr12:49418638 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002525048]|KMT2D-related condition [RCV003900074]|Kabuki syndrome 1 [RCV000659759]|Kabuki syndrome [RCV002525047]|not provided [RCV000730803]|not specified [RCV000517847] |
Chr12:49039772 [GRCh38]
Chr12:49433555 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.14713C>T (p.Gln4905Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659817]|not provided [RCV000599418] |
Chr12:49027253 [GRCh38]
Chr12:49421036 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.11547_11557dup (p.Val3853fs) |
duplication |
Inborn genetic diseases [RCV000623696] |
Chr12:49033147..49033148 [GRCh38]
Chr12:49426930..49426931 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.376C>G (p.Pro126Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000763858]|not provided [RCV000596792] |
Chr12:49054552 [GRCh38]
Chr12:49448335 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11743C>T (p.Gln3915Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659795]|Kabuki syndrome [RCV000638428] |
Chr12:49032962 [GRCh38]
Chr12:49426745 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.6594del (p.Tyr2199fs) |
deletion |
Kabuki syndrome [RCV000638440] |
Chr12:49041176 [GRCh38]
Chr12:49434959 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5248_5250del (p.Glu1750del) |
deletion |
Inborn genetic diseases [RCV001265701]|not provided [RCV000722209] |
Chr12:49043937..49043939 [GRCh38]
Chr12:49437720..49437722 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11202GCA[5] (p.Gln3744_Gln3745del) |
microsatellite |
Kabuki syndrome 1 [RCV002476306]|Kabuki syndrome [RCV003753135]|not provided [RCV000591313] |
Chr12:49033483..49033488 [GRCh38]
Chr12:49427266..49427271 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003960233]|Kabuki syndrome 1 [RCV001261320]|not provided [RCV000523702] |
Chr12:49022066 [GRCh38]
Chr12:49415849 [GRCh37]
Chr12:12q13.12 |
pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.15641G>C (p.Arg5214Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000627088] |
Chr12:49026325 [GRCh38]
Chr12:49420108 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13997G>T (p.Arg4666Met) |
single nucleotide variant |
not provided [RCV000730144] |
Chr12:49030282 [GRCh38]
Chr12:49424065 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10882C>G (p.Leu3628Val) |
single nucleotide variant |
See cases [RCV001198181] |
Chr12:49033823 [GRCh38]
Chr12:49427606 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.5998C>T (p.Gln2000Ter) |
single nucleotide variant |
not provided [RCV000730041] |
Chr12:49042200 [GRCh38]
Chr12:49435983 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4214A>G (p.His1405Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000735232] |
Chr12:49047987 [GRCh38]
Chr12:49441770 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.690A>C (p.Ala230=) |
single nucleotide variant |
not provided [RCV000733049] |
Chr12:49053625 [GRCh38]
Chr12:49447408 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9135C>T (p.Asp3045=) |
single nucleotide variant |
Kabuki syndrome [RCV002067140]|not specified [RCV000733050] |
Chr12:49038221 [GRCh38]
Chr12:49432004 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1305C>T (p.Asn435=) |
single nucleotide variant |
Kabuki syndrome [RCV003753156]|not provided [RCV000735048] |
Chr12:49052378 [GRCh38]
Chr12:49446161 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15341A>C (p.His5114Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000768007]|Kabuki syndrome 1 [RCV003224807] |
Chr12:49026625 [GRCh38]
Chr12:49420408 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003965573]|Kabuki syndrome 1 [RCV000768008]|Kabuki syndrome 1 [RCV003224414]|Kabuki syndrome [RCV001869057]|not provided [RCV001572528] |
Chr12:49032856 [GRCh38]
Chr12:49426639 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2389C>G (p.Leu797Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000414866] |
Chr12:49051294 [GRCh38]
Chr12:49445077 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002536521]|KMT2D-related condition [RCV003965551]|Kabuki syndrome [RCV001855815]|not provided [RCV000734492] |
Chr12:49028050 [GRCh38]
Chr12:49421833 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003965544]|Kabuki syndrome [RCV002067160]|not provided [RCV000733975] |
Chr12:49040692 [GRCh38]
Chr12:49434475 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11475_11478del (p.Gln3826fs) |
microsatellite |
Kabuki syndrome 1 [RCV000416323]|not provided [RCV003319351] |
Chr12:49033227..49033230 [GRCh38]
Chr12:49427010..49427013 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003160039]|KMT2D-related condition [RCV003945413]|Kabuki syndrome [RCV002062068]|not provided [RCV000594517] |
Chr12:49037971 [GRCh38]
Chr12:49431754 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) |
single nucleotide variant |
Kabuki syndrome [RCV002067130]|not provided [RCV000732460]|not specified [RCV001816803] |
Chr12:49051037 [GRCh38]
Chr12:49444820 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4132-3C>T |
single nucleotide variant |
not provided [RCV000734004] |
Chr12:49048072 [GRCh38]
Chr12:49441855 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.772A>C (p.Thr258Pro) |
single nucleotide variant |
not provided [RCV000734752] |
Chr12:49053543 [GRCh38]
Chr12:49447326 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002549185]|KMT2D-related condition [RCV003943319]|Kabuki syndrome 1 [RCV001002641]|Kabuki syndrome [RCV001410364]|not provided [RCV001683722] |
Chr12:49031816 [GRCh38]
Chr12:49425599 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11401A>C (p.Met3801Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001862165]|not provided [RCV000729065] |
Chr12:49033304 [GRCh38]
Chr12:49427087 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8489G>A (p.Arg2830Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002535329]|not provided [RCV000733430] |
Chr12:49038867 [GRCh38]
Chr12:49432650 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11180G>A (p.Arg3727His) |
single nucleotide variant |
Kabuki syndrome [RCV001063842]|not provided [RCV000733445] |
Chr12:49033525 [GRCh38]
Chr12:49427308 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln) |
single nucleotide variant |
not provided [RCV000734860] |
Chr12:49051419 [GRCh38]
Chr12:49445202 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003224324]|Kabuki syndrome [RCV002060312]|not provided [RCV000560525] |
Chr12:49040198 [GRCh38]
Chr12:49433981 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002485922]|Kabuki syndrome [RCV001855689]|not provided [RCV000732648] |
Chr12:49037191 [GRCh38]
Chr12:49430974 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8794_8795del (p.Gln2932fs) |
microsatellite |
not provided [RCV000732755] |
Chr12:49038561..49038562 [GRCh38]
Chr12:49432344..49432345 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1868_1948del (p.Ala623_Glu649del) |
deletion |
not provided [RCV000722584] |
Chr12:49051735..49051815 [GRCh38]
Chr12:49445518..49445598 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9843_9844delinsCT (p.Gln3281_Gln3282delinsHisTer) |
indel |
not provided [RCV000722444] |
Chr12:49037512..49037513 [GRCh38]
Chr12:49431295..49431296 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1568C>T (p.Pro523Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003918203]|Kabuki syndrome [RCV003117529]|not provided [RCV000730804] |
Chr12:49052115 [GRCh38]
Chr12:49445898 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup) |
microsatellite |
KMT2D-related condition [RCV003424317]|Kabuki syndrome 1 [RCV002485903]|Kabuki syndrome [RCV001366443]|not provided [RCV000731842] |
Chr12:49032988..49032989 [GRCh38]
Chr12:49426771..49426772 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003409578]|Kabuki syndrome 1 [RCV000594502]|Kabuki syndrome [RCV003588627]|Multiple myeloma [RCV000984092]|not provided [RCV000413702] |
Chr12:49031861 [GRCh38]
Chr12:49425644 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.8696del (p.Gly2899fs) |
deletion |
not provided [RCV000413744] |
Chr12:49038660 [GRCh38]
Chr12:49432443 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2404_2405delinsCG (p.Glu802Arg) |
indel |
not provided [RCV000723162] |
Chr12:49051278..49051279 [GRCh38]
Chr12:49445061..49445062 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7411C>T (p.Arg2471Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000689855]|not provided [RCV000414083] |
Chr12:49040359 [GRCh38]
Chr12:49434142 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8366+1G>A |
single nucleotide variant |
not provided [RCV000414121] |
Chr12:49039221 [GRCh38]
Chr12:49433004 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4237-2A>G |
single nucleotide variant |
Kabuki syndrome [RCV000527337] |
Chr12:49046792 [GRCh38]
Chr12:49440575 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12661C>T (p.Gln4221Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000449566] |
Chr12:49032044 [GRCh38]
Chr12:49425827 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4271G>C (p.Cys1424Ser) |
single nucleotide variant |
not provided [RCV000442417] |
Chr12:49046756 [GRCh38]
Chr12:49440539 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3118T>C (p.Ser1040Pro) |
single nucleotide variant |
not provided [RCV000444580] |
Chr12:49050470 [GRCh38]
Chr12:49444253 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV000444887] |
Chr12:49055323 [GRCh38]
Chr12:49449106 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2868G>C (p.Glu956Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002525451]|not provided [RCV001721402] |
Chr12:49050720 [GRCh38]
Chr12:49444503 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.16012T>C (p.Cys5338Arg) |
single nucleotide variant |
not provided [RCV000420744] |
Chr12:49024618 [GRCh38]
Chr12:49418401 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5319+1G>T |
single nucleotide variant |
not provided [RCV000420886] |
Chr12:49043867 [GRCh38]
Chr12:49437650 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1259-2A>G |
single nucleotide variant |
not provided [RCV000421456] |
Chr12:49052426 [GRCh38]
Chr12:49446209 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15467A>G (p.Tyr5156Cys) |
single nucleotide variant |
not provided [RCV000423403] |
Chr12:49026499 [GRCh38]
Chr12:49420282 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2317C>T (p.Gln773Ter) |
single nucleotide variant |
not provided [RCV000426440] |
Chr12:49051366 [GRCh38]
Chr12:49445149 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10482G>A (p.Pro3494=) |
single nucleotide variant |
Kabuki syndrome [RCV002062540]|not specified [RCV000422286] |
Chr12:49034435 [GRCh38]
Chr12:49428218 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16522-1G>A |
single nucleotide variant |
not provided [RCV000428424] |
Chr12:49021873 [GRCh38]
Chr12:49415656 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4342T>A (p.Cys1448Ser) |
single nucleotide variant |
not provided [RCV000436468] |
Chr12:49046685 [GRCh38]
Chr12:49440468 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10192A>C (p.Met3398Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002061318]|not provided [RCV000436939] |
Chr12:49037164 [GRCh38]
Chr12:49430947 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.466G>T (p.Glu156Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000417038] |
Chr12:49054351 [GRCh38]
Chr12:49448134 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2994del (p.Pro998_Met999insTer) |
deletion |
Kabuki syndrome 1 [RCV000417094]|Kabuki syndrome [RCV001056522] |
Chr12:49050594 [GRCh38]
Chr12:49444377 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 |
copy number gain |
See cases [RCV000448835] |
Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10810C>T (p.Gln3604Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000477744] |
Chr12:49033895 [GRCh38]
Chr12:49427678 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1143del (p.Thr382fs) |
deletion |
Kabuki syndrome 1 [RCV000659695]|not provided [RCV000482724] |
Chr12:49052679 [GRCh38]
Chr12:49446462 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.9099del (p.Asn3034fs) |
deletion |
not provided [RCV000482913] |
Chr12:49038257 [GRCh38]
Chr12:49432040 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9602dup (p.Ser3202fs) |
duplication |
CHARGE association [RCV001034583]|Kabuki syndrome 1 [RCV000578199]|not provided [RCV000483539] |
Chr12:49037753..49037754 [GRCh38]
Chr12:49431536..49431537 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.12650AGC[7] (p.Gln4220_Gln4221dup) |
microsatellite |
Kabuki syndrome [RCV003753123]|not provided [RCV000485235] |
Chr12:49032040..49032041 [GRCh38]
Chr12:49425823..49425824 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5852del (p.Pro1951fs) |
deletion |
Kabuki syndrome 1 [RCV000468099] |
Chr12:49042576 [GRCh38]
Chr12:49436359 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5467+5_5467+8del |
microsatellite |
not provided [RCV000484039] |
Chr12:49043627..49043630 [GRCh38]
Chr12:49437410..49437413 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2713del (p.Glu905fs) |
deletion |
not provided [RCV000484408] |
Chr12:49050970 [GRCh38]
Chr12:49444753 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2164del (p.Glu722fs) |
deletion |
Kabuki syndrome 1 [RCV001261216]|not provided [RCV000485784] |
Chr12:49051519 [GRCh38]
Chr12:49445302 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1845dup (p.Pro616fs) |
duplication |
not provided [RCV000514393] |
Chr12:49051837..49051838 [GRCh38]
Chr12:49445620..49445621 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3730del (p.Val1244fs) |
deletion |
not provided [RCV000479317] |
Chr12:49049858 [GRCh38]
Chr12:49443641 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13652_13660del (p.Leu4551_Gln4554delinsTer) |
deletion |
not provided [RCV000479574] |
Chr12:49030904..49030912 [GRCh38]
Chr12:49424687..49424695 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.709del (p.Glu237fs) |
deletion |
not provided [RCV000486792] |
Chr12:49053606 [GRCh38]
Chr12:49447389 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5278_5279del (p.Lys1760fs) |
deletion |
not provided [RCV000486880] |
Chr12:49043908..49043909 [GRCh38]
Chr12:49437691..49437692 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4148G>A (p.Cys1383Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261325]|not provided [RCV000479907] |
Chr12:49048053 [GRCh38]
Chr12:49441836 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11916G>A (p.Gln3972=) |
single nucleotide variant |
KMT2D-related condition [RCV003962386]|Kabuki syndrome [RCV000945496]|not provided [RCV001712461]|not specified [RCV000503240] |
Chr12:49032789 [GRCh38]
Chr12:49426572 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs) |
duplication |
Kabuki syndrome 1 [RCV000503362] |
Chr12:49054046..49054047 [GRCh38]
Chr12:49447829..49447830 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10356-12G>A |
single nucleotide variant |
not provided [RCV000498861] |
Chr12:49034678 [GRCh38]
Chr12:49428461 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV001267387]|KMT2D-related condition [RCV003409695]|Kabuki syndrome 1 [RCV000503486]|not provided [RCV001786394] |
Chr12:49043918 [GRCh38]
Chr12:49437701 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7981C>T (p.Leu2661Phe) |
single nucleotide variant |
not specified [RCV000501385] |
Chr12:49039789 [GRCh38]
Chr12:49433572 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10355+12G>A |
single nucleotide variant |
not specified [RCV000501510] |
Chr12:49034800 [GRCh38]
Chr12:49428583 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11515C>T (p.Gln3839Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000497933] |
Chr12:49033190 [GRCh38]
Chr12:49426973 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14843C>G (p.Ser4948Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000498429] |
Chr12:49027123 [GRCh38]
Chr12:49420906 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4941C>T (p.Thr1647=) |
single nucleotide variant |
Kabuki syndrome [RCV002060123]|not provided [RCV001755743]|not specified [RCV000504046] |
Chr12:49044766 [GRCh38]
Chr12:49438549 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14194C>T (p.Gln4732Ter) |
single nucleotide variant |
not provided [RCV000523212] |
Chr12:49029118 [GRCh38]
Chr12:49422901 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000501903] |
Chr12:49047992 [GRCh38]
Chr12:49441775 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_003482.4(KMT2D):c.8559G>A (p.Pro2853=) |
single nucleotide variant |
KMT2D-related condition [RCV003902780]|Kabuki syndrome [RCV001452399]|not provided [RCV000865384]|not specified [RCV000499898] |
Chr12:49038797 [GRCh38]
Chr12:49432580 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10784A>G (p.Tyr3595Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001254328] |
Chr12:49033921 [GRCh38]
Chr12:49427704 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.1899G>T (p.Ser633=) |
single nucleotide variant |
not specified [RCV000500040] |
Chr12:49051784 [GRCh38]
Chr12:49445567 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11749C>T (p.Gln3917Ter) |
single nucleotide variant |
not provided [RCV000497947] |
Chr12:49032956 [GRCh38]
Chr12:49426739 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1940dup (p.Pro648fs) |
duplication |
not provided [RCV000498115] |
Chr12:49051742..49051743 [GRCh38]
Chr12:49445525..49445526 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.401-11del |
deletion |
Kabuki syndrome [RCV002060124]|not provided [RCV001536311]|not specified [RCV000500311] |
Chr12:49054427 [GRCh38]
Chr12:49448210 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7379G>A (p.Arg2460His) |
single nucleotide variant |
Kabuki syndrome [RCV001857003]|not provided [RCV000498244] |
Chr12:49040391 [GRCh38]
Chr12:49434174 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10369_10370del (p.Leu3457fs) |
microsatellite |
not provided [RCV000498259] |
Chr12:49034652..49034653 [GRCh38]
Chr12:49428435..49428436 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9347C>T (p.Pro3116Leu) |
single nucleotide variant |
not specified [RCV000502968] |
Chr12:49038009 [GRCh38]
Chr12:49431792 [GRCh37]
Chr12:12q13.12 |
likely benign |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_003482.4(KMT2D):c.12466C>T (p.Gln4156Ter) |
single nucleotide variant |
not provided [RCV000493706] |
Chr12:49032239 [GRCh38]
Chr12:49426022 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2232_2258dup (p.746RPEEPHLSP[3]) |
duplication |
not provided [RCV000494001] |
Chr12:49051424..49051425 [GRCh38]
Chr12:49445207..49445208 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.125C>T (p.Ser42Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000505820] |
Chr12:49054951 [GRCh38]
Chr12:49448734 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16197G>A (p.Val5399=) |
single nucleotide variant |
KMT2D-related condition [RCV003979909]|Kabuki syndrome [RCV002527359]|not specified [RCV000506004] |
Chr12:49022731 [GRCh38]
Chr12:49416514 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.49+2T>A |
single nucleotide variant |
not provided [RCV000494396] |
Chr12:49055274 [GRCh38]
Chr12:49449057 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.10252G>T (p.Glu3418Ter) |
single nucleotide variant |
Smith-Magenis Syndrome-like [RCV000490971] |
Chr12:49034915 [GRCh38]
Chr12:49428698 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12730C>T (p.Gln4244Ter) |
single nucleotide variant |
not provided [RCV000579161] |
Chr12:49031975 [GRCh38]
Chr12:49425758 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13378_13379insCA (p.His4460fs) |
insertion |
Kabuki syndrome 1 [RCV000578244] |
Chr12:49031326..49031327 [GRCh38]
Chr12:49425109..49425110 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6546dup (p.Tyr2183fs) |
duplication |
not provided [RCV000507974] |
Chr12:49041223..49041224 [GRCh38]
Chr12:49435006..49435007 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.49+1del |
deletion |
Kabuki syndrome [RCV000699047] |
Chr12:49055275 [GRCh38]
Chr12:49449058 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14644-3C>G |
single nucleotide variant |
Kabuki syndrome [RCV000554613]|not provided [RCV003126812] |
Chr12:49027325 [GRCh38]
Chr12:49421108 [GRCh37]
Chr12:12q13.12 |
pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.3900_3906+1delinsGAAACAGT |
indel |
not provided [RCV000520705] |
Chr12:49049681..49049688 [GRCh38]
Chr12:49443464..49443471 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6902C>T (p.Pro2301Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000768254]|Kabuki syndrome 1 [RCV003224445] |
Chr12:49040868 [GRCh38]
Chr12:49434651 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3109_3110del (p.Ser1037fs) |
deletion |
Kabuki syndrome [RCV002528291]|not provided [RCV000524060] |
Chr12:49050478..49050479 [GRCh38]
Chr12:49444261..49444262 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12478C>G (p.Leu4160Val) |
single nucleotide variant |
Kabuki syndrome [RCV000638436] |
Chr12:49032227 [GRCh38]
Chr12:49426010 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10599T>C (p.Gly3533=) |
single nucleotide variant |
KMT2D-related condition [RCV003980237]|Kabuki syndrome [RCV000638445] |
Chr12:49034208 [GRCh38]
Chr12:49427991 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001542416]|Kabuki syndrome [RCV002525046]|not provided [RCV002473031]|not specified [RCV000516233] |
Chr12:49024662 [GRCh38]
Chr12:49418445 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11093dup (p.Phe3699fs) |
duplication |
Kabuki syndrome 1 [RCV000578333] |
Chr12:49033611..49033612 [GRCh38]
Chr12:49427394..49427395 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12667C>T (p.Gln4223Ter) |
single nucleotide variant |
KMT2D-related disorders [RCV003315246]|Kabuki syndrome 1 [RCV002245021]|Kabuki syndrome [RCV001853839]|not provided [RCV000578523] |
Chr12:49032038 [GRCh38]
Chr12:49425821 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13715A>G (p.Asn4572Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578127] |
Chr12:49030725 [GRCh38]
Chr12:49424508 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14515+1G>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV000578147] |
Chr12:49028008 [GRCh38]
Chr12:49421791 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4222T>G (p.Cys1408Gly) |
single nucleotide variant |
Kabuki syndrome [RCV000638432] |
Chr12:49047979 [GRCh38]
Chr12:49441762 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.2533del (p.Arg845fs) |
deletion |
Kabuki syndrome [RCV000638435] |
Chr12:49051150 [GRCh38]
Chr12:49444933 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16342C>T (p.Arg5448Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659834]|Kabuki syndrome [RCV000638437] |
Chr12:49022350 [GRCh38]
Chr12:49416133 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.12705G>A (p.Gln4235=) |
single nucleotide variant |
Kabuki syndrome [RCV000638446]|not provided [RCV003133424]|not specified [RCV001816585] |
Chr12:49032000 [GRCh38]
Chr12:49425783 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3798G>T (p.Glu1266Asp) |
single nucleotide variant |
Seizure [RCV000626846] |
Chr12:49049790 [GRCh38]
Chr12:49443573 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2141C>A (p.Ser714Ter) |
single nucleotide variant |
not provided [RCV000627340] |
Chr12:49051542 [GRCh38]
Chr12:49445325 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5387G>A (p.Arg1796Gln) |
single nucleotide variant |
not provided [RCV003318249] |
Chr12:49043715 [GRCh38]
Chr12:49437498 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15596T>G (p.Phe5199Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003257285] |
Chr12:49026370 [GRCh38]
Chr12:49420153 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9443A>G (p.Asn3148Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003282388]|Kabuki syndrome [RCV003588880] |
Chr12:49037913 [GRCh38]
Chr12:49431696 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000626219]|Kabuki syndrome [RCV001388480] |
Chr12:49030622 [GRCh38]
Chr12:49424405 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9436G>A (p.Ala3146Thr) |
single nucleotide variant |
Kabuki syndrome [RCV000536347] |
Chr12:49037920 [GRCh38]
Chr12:49431703 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11124C>G (p.Ser3708Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000622538]|Kabuki syndrome [RCV001474222] |
Chr12:49033581 [GRCh38]
Chr12:49427364 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6510A>C (p.Gln2170His) |
single nucleotide variant |
Inborn genetic diseases [RCV000623468]|Kabuki syndrome [RCV003753146] |
Chr12:49041260 [GRCh38]
Chr12:49435043 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6559C>A (p.Pro2187Thr) |
single nucleotide variant |
not provided [RCV003318051] |
Chr12:49041211 [GRCh38]
Chr12:49434994 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.840-2A>G |
single nucleotide variant |
Kabuki syndrome [RCV000560185] |
Chr12:49053323 [GRCh38]
Chr12:49447106 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6919G>A (p.Val2307Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003900065]|Kabuki syndrome [RCV001857861]|not provided [RCV000514385] |
Chr12:49040851 [GRCh38]
Chr12:49434634 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2340C>T (p.Cys780=) |
single nucleotide variant |
Kabuki syndrome [RCV001391716] |
Chr12:49051343 [GRCh38]
Chr12:49445126 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12634C>T (p.Arg4212Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659801]|Kabuki syndrome [RCV002060186]|not provided [RCV000514080] |
Chr12:49032071 [GRCh38]
Chr12:49425854 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs) |
duplication |
Inborn genetic diseases [RCV000624122] |
Chr12:49030285..49030286 [GRCh38]
Chr12:49424068..49424069 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.109C>T (p.His37Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002528802]|not specified [RCV000601562] |
Chr12:49054967 [GRCh38]
Chr12:49448750 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8371C>A (p.Leu2791Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003281796] |
Chr12:49038985 [GRCh38]
Chr12:49432768 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001860214]|not provided [RCV000595880] |
Chr12:49052952 [GRCh38]
Chr12:49446735 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336570]|not provided [RCV000594565] |
Chr12:49039574 [GRCh38]
Chr12:49433357 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11422del (p.Ala3808fs) |
deletion |
Kabuki syndrome 1 [RCV000659787]|Kabuki syndrome [RCV000638429] |
Chr12:49033283 [GRCh38]
Chr12:49427066 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.16338+2T>C |
single nucleotide variant |
Kabuki syndrome [RCV000638431] |
Chr12:49022588 [GRCh38]
Chr12:49416371 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10774A>G (p.Met3592Val) |
single nucleotide variant |
Kabuki syndrome [RCV000638433] |
Chr12:49033931 [GRCh38]
Chr12:49427714 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.839+3A>G |
single nucleotide variant |
Kabuki syndrome [RCV000638438] |
Chr12:49053473 [GRCh38]
Chr12:49447256 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8370A>C (p.Gln2790His) |
single nucleotide variant |
Inborn genetic diseases [RCV003272020] |
Chr12:49038986 [GRCh38]
Chr12:49432769 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7325del (p.Pro2442fs) |
deletion |
not provided [RCV000523400] |
Chr12:49040445 [GRCh38]
Chr12:49434228 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11627T>A (p.Leu3876His) |
single nucleotide variant |
Inborn genetic diseases [RCV003280250] |
Chr12:49033078 [GRCh38]
Chr12:49426861 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9405C>G (p.Thr3135=) |
single nucleotide variant |
Kabuki syndrome [RCV002529576]|not specified [RCV000612364] |
Chr12:49037951 [GRCh38]
Chr12:49431734 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12019C>T (p.Gln4007Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000559586] |
Chr12:49032686 [GRCh38]
Chr12:49426469 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6264del (p.Lys2089fs) |
deletion |
Kabuki syndrome [RCV000540712] |
Chr12:49041506 [GRCh38]
Chr12:49435289 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624308] |
Chr12:49046358 [GRCh38]
Chr12:49440141 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624430]|Kabuki syndrome 1 [RCV001261352]|Kabuki syndrome [RCV001202175]|not provided [RCV001788303] |
Chr12:49032761 [GRCh38]
Chr12:49426544 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13095T>C (p.Leu4365=) |
single nucleotide variant |
Kabuki syndrome [RCV000638441]|not specified [RCV000615861] |
Chr12:49031610 [GRCh38]
Chr12:49425393 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15921+1G>A |
single nucleotide variant |
Kabuki syndrome [RCV000555530] |
Chr12:49024809 [GRCh38]
Chr12:49418592 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4813A>T (p.Met1605Leu) |
single nucleotide variant |
not provided [RCV000597080] |
Chr12:49044894 [GRCh38]
Chr12:49438677 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.44C>A (p.Pro15Gln) |
single nucleotide variant |
not provided [RCV003239240] |
Chr12:49055281 [GRCh38]
Chr12:49449064 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13102A>G (p.Thr4368Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003935445]|Kabuki syndrome [RCV000560834]|not provided [RCV001712497] |
Chr12:49031603 [GRCh38]
Chr12:49425386 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.16115C>G (p.Thr5372Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003962773]|Kabuki syndrome [RCV002063870]|not provided [RCV000945646] |
Chr12:49022813 [GRCh38]
Chr12:49416596 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.12999G>T (p.Glu4333Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003962772]|Kabuki syndrome [RCV002063869]|not provided [RCV000945647] |
Chr12:49031706 [GRCh38]
Chr12:49425489 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13559C>T (p.Pro4520Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001855221]|not specified [RCV000614788] |
Chr12:49031005 [GRCh38]
Chr12:49424788 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1345_1346del (p.Leu449fs) |
deletion |
Kabuki syndrome [RCV000536588]|not provided [RCV003233704] |
Chr12:49052337..49052338 [GRCh38]
Chr12:49446120..49446121 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003411514]|Kabuki syndrome 1 [RCV000763856]|Kabuki syndrome [RCV000638427] |
Chr12:49041252 [GRCh38]
Chr12:49435035 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14700del (p.Leu4901fs) |
deletion |
Kabuki syndrome [RCV000638434] |
Chr12:49027266 [GRCh38]
Chr12:49421049 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11812C>T (p.Gln3938Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000638439] |
Chr12:49032893 [GRCh38]
Chr12:49426676 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8904G>A (p.Pro2968=) |
single nucleotide variant |
Kabuki syndrome [RCV000638444]|not provided [RCV001559096]|not specified [RCV003151116] |
Chr12:49038452 [GRCh38]
Chr12:49432235 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10445G>A (p.Arg3482Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002524982]|Kabuki syndrome [RCV001857866]|not provided [RCV000514006] |
Chr12:49034472 [GRCh38]
Chr12:49428255 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8507G>A (p.Arg2836His) |
single nucleotide variant |
Kabuki syndrome [RCV002524957]|not provided [RCV000512744] |
Chr12:49038849 [GRCh38]
Chr12:49432632 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.299G>C (p.Gly100Ala) |
single nucleotide variant |
not provided [RCV000512897] |
Chr12:49054629 [GRCh38]
Chr12:49448412 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13411_13412del (p.Asn4471fs) |
deletion |
Inborn genetic diseases [RCV000623618] |
Chr12:49031293..49031294 [GRCh38]
Chr12:49425076..49425077 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11829GCA[2] (p.Gln3947del) |
microsatellite |
not provided [RCV000513350] |
Chr12:49032868..49032870 [GRCh38]
Chr12:49426651..49426653 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11519dup (p.Ala3841fs) |
duplication |
not provided [RCV000627539] |
Chr12:49033185..49033186 [GRCh38]
Chr12:49426968..49426969 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12874C>G (p.Pro4292Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV000624721] |
Chr12:49031831 [GRCh38]
Chr12:49425614 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7000C>T (p.Arg2334Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003588661]|not provided [RCV000658462] |
Chr12:49040770 [GRCh38]
Chr12:49434553 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14382+1G>C |
single nucleotide variant |
not provided [RCV000658645] |
Chr12:49028827 [GRCh38]
Chr12:49422610 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15499A>G (p.Ser5167Gly) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659823]|Kabuki syndrome [RCV002066964] |
Chr12:49026467 [GRCh38]
Chr12:49420250 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4710del (p.Glu1571fs) |
deletion |
Kabuki syndrome 1 [RCV000659721] |
Chr12:49045951 [GRCh38]
Chr12:49439734 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8027_8028del (p.Glu2676fs) |
microsatellite |
Kabuki syndrome 1 [RCV000659760] |
Chr12:49039742..49039743 [GRCh38]
Chr12:49433525..49433526 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.8137G>A (p.Ala2713Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659762]|Kabuki syndrome [RCV000687769] |
Chr12:49039527 [GRCh38]
Chr12:49433310 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659765]|Kabuki syndrome [RCV003753148] |
Chr12:49038951 [GRCh38]
Chr12:49432734 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8579G>A (p.Arg2860His) |
single nucleotide variant |
KMT2D-related condition [RCV003403520]|Kabuki syndrome 1 [RCV000659768]|Kabuki syndrome [RCV001481332]|not provided [RCV002225706] |
Chr12:49038777 [GRCh38]
Chr12:49432560 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9439G>A (p.Ala3147Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659774]|Kabuki syndrome [RCV003753149] |
Chr12:49037917 [GRCh38]
Chr12:49431700 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659781]|Kabuki syndrome [RCV003753150]|not provided [RCV003128720] |
Chr12:49034285 [GRCh38]
Chr12:49428068 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13346del (p.Leu4449fs) |
deletion |
Kabuki syndrome 1 [RCV000659806] |
Chr12:49031359 [GRCh38]
Chr12:49425142 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659824]|Kabuki syndrome [RCV001060415] |
Chr12:49026401 [GRCh38]
Chr12:49420184 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.423G>A (p.Trp141Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659689] |
Chr12:49054394 [GRCh38]
Chr12:49448177 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.3649dup (p.Ser1217fs) |
duplication |
Kabuki syndrome 1 [RCV000659710] |
Chr12:49049938..49049939 [GRCh38]
Chr12:49443721..49443722 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5135_5136del (p.Lys1712fs) |
deletion |
Kabuki syndrome 1 [RCV000659726] |
Chr12:49044252..49044253 [GRCh38]
Chr12:49438035..49438036 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6992del (p.Leu2331fs) |
deletion |
Kabuki syndrome 1 [RCV000659745]|Kabuki syndrome [RCV001384447] |
Chr12:49040778 [GRCh38]
Chr12:49434561 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.8350_8351del (p.Met2784fs) |
deletion |
Kabuki syndrome 1 [RCV000659763] |
Chr12:49039237..49039238 [GRCh38]
Chr12:49433020..49433021 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9417del (p.Lys3140fs) |
deletion |
Kabuki syndrome 1 [RCV000659773] |
Chr12:49037939 [GRCh38]
Chr12:49431722 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10090C>T (p.Gln3364Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659776] |
Chr12:49037266 [GRCh38]
Chr12:49431049 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659791]|Kabuki syndrome [RCV001201477] |
Chr12:49033106 [GRCh38]
Chr12:49426889 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14055_14056del (p.His4685fs) |
microsatellite |
Kabuki syndrome 1 [RCV000659811] |
Chr12:49029420..49029421 [GRCh38]
Chr12:49423203..49423204 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14878C>T (p.Arg4960Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003938012]|Kabuki syndrome 1 [RCV000659820]|Kabuki syndrome [RCV002530556] |
Chr12:49027088 [GRCh38]
Chr12:49420871 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16125del (p.Tyr5376fs) |
deletion |
Kabuki syndrome 1 [RCV000659830] |
Chr12:49022803 [GRCh38]
Chr12:49416586 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16470del (p.Glu5491fs) |
deletion |
Kabuki syndrome 1 [RCV000659836] |
Chr12:49022094 [GRCh38]
Chr12:49415877 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16338+1G>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659833] |
Chr12:49022589 [GRCh38]
Chr12:49416372 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9803C>T (p.Ala3268Val) |
single nucleotide variant |
not provided [RCV000658398] |
Chr12:49037553 [GRCh38]
Chr12:49431336 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14515+1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659815] |
Chr12:49028008 [GRCh38]
Chr12:49421791 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5597del (p.Pro1866fs) |
deletion |
Kabuki syndrome 1 [RCV000659730] |
Chr12:49043123 [GRCh38]
Chr12:49436906 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.432A>G (p.Ala144=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659690] |
Chr12:49054385 [GRCh38]
Chr12:49448168 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13367C>G (p.Ser4456Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000659807] |
Chr12:49031338 [GRCh38]
Chr12:49425121 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8506C>T (p.Arg2836Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000680026]|Kabuki syndrome [RCV003768036] |
Chr12:49038850 [GRCh38]
Chr12:49432633 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15902_15903del (p.Val5301fs) |
deletion |
Kabuki syndrome 1 [RCV000680025] |
Chr12:49024828..49024829 [GRCh38]
Chr12:49418611..49418612 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14069_14075+1del |
deletion |
Kabuki syndrome 1 [RCV000677420] |
Chr12:49029400..49029407 [GRCh38]
Chr12:49423183..49423190 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2515G>T (p.Glu839Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000684769] |
Chr12:49051168 [GRCh38]
Chr12:49444951 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8478_8488del (p.Thr2827fs) |
deletion |
Kabuki syndrome [RCV000699730] |
Chr12:49038868..49038878 [GRCh38]
Chr12:49432651..49432661 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3 |
copy number gain |
not provided [RCV000683434] |
Chr12:49191810..49630201 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12568A>T (p.Ile4190Phe) |
single nucleotide variant |
Intellectual disability [RCV000681509] |
Chr12:49032137 [GRCh38]
Chr12:49425920 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16019G>A (p.Arg5340Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000681514]|Kabuki syndrome [RCV001868307]|not provided [RCV002307588] |
Chr12:49024611 [GRCh38]
Chr12:49418394 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.4379dup (p.Leu1461fs) |
duplication |
Kabuki syndrome 1 [RCV003148994]|Lung cancer [RCV001807876] |
Chr12:49046647..49046648 [GRCh38]
Chr12:49440430..49440431 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.13118G>A (p.Gly4373Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001861974]|not provided [RCV000712305] |
Chr12:49031587 [GRCh38]
Chr12:49425370 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14193G>A (p.Glu4731=) |
single nucleotide variant |
KMT2D-related condition [RCV003965463]|Kabuki syndrome [RCV001392687]|not provided [RCV000712306] |
Chr12:49029119 [GRCh38]
Chr12:49422902 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9837GCA[5] (p.Gln3282dup) |
microsatellite |
Kabuki syndrome [RCV001363768]|not provided [RCV000712313] |
Chr12:49037507..49037508 [GRCh38]
Chr12:49431290..49431291 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10570C>T (p.Gln3524Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000702805] |
Chr12:49034237 [GRCh38]
Chr12:49428020 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7169C>T (p.Pro2390Leu) |
single nucleotide variant |
Kabuki syndrome [RCV000698814]|not provided [RCV001546929] |
Chr12:49040601 [GRCh38]
Chr12:49434384 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8162G>A (p.Gly2721Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003928176]|Kabuki syndrome [RCV000707379] |
Chr12:49039502 [GRCh38]
Chr12:49433285 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup) |
microsatellite |
Kabuki syndrome 1 [RCV000988835]|Kabuki syndrome [RCV000693688]|not provided [RCV001585628] |
Chr12:49037522..49037523 [GRCh38]
Chr12:49431306..49431308 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6477C>T (p.Leu2159=) |
single nucleotide variant |
Kabuki syndrome [RCV001504551]|not provided [RCV000712310] |
Chr12:49041293 [GRCh38]
Chr12:49435076 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.1844C>G (p.Ser615Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003892533]|Kabuki syndrome [RCV000688525]|not provided [RCV001171581] |
Chr12:49051839 [GRCh38]
Chr12:49445622 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5263C>T (p.Gln1755Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000705469] |
Chr12:49043924 [GRCh38]
Chr12:49437707 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2317dup (p.Gln773fs) |
duplication |
Kabuki syndrome [RCV000691647] |
Chr12:49051365..49051366 [GRCh38]
Chr12:49445148..49445149 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11881C>T (p.Gln3961Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000705834] |
Chr12:49032824 [GRCh38]
Chr12:49426607 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13361del (p.Pro4454fs) |
deletion |
Kabuki syndrome [RCV000703891] |
Chr12:49031344 [GRCh38]
Chr12:49425127 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4151_4152delinsAA (p.Gly1384Glu) |
indel |
Kabuki syndrome [RCV000692542] |
Chr12:49048049..49048050 [GRCh38]
Chr12:49441832..49441833 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NC_000012.11:g.26370251_54361538inv |
inversion |
not specified [RCV000714265] |
Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13 |
uncertain significance |
| NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001291752]|Kabuki syndrome [RCV000697354] |
Chr12:49054621 [GRCh38]
Chr12:49448404 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3903del (p.Lys1301fs) |
deletion |
Kabuki syndrome [RCV000689868] |
Chr12:49049685 [GRCh38]
Chr12:49443468 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3326_3336del (p.Ala1109fs) |
microsatellite |
Kabuki syndrome 1 [RCV001261324]|Kabuki syndrome [RCV000706737] |
Chr12:49050252..49050262 [GRCh38]
Chr12:49444035..49444045 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3704del (p.Gly1235fs) |
deletion |
Kabuki syndrome [RCV000695487]|not provided [RCV001269551] |
Chr12:49049884 [GRCh38]
Chr12:49443667 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10441-9T>A |
single nucleotide variant |
KMT2D-related condition [RCV003928180]|Kabuki syndrome [RCV001517183]|not provided [RCV000712300] |
Chr12:49034485 [GRCh38]
Chr12:49428268 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.559C>T (p.Pro187Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003411651]|not provided [RCV000712307] |
Chr12:49054092 [GRCh38]
Chr12:49447875 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11681T>C (p.Met3894Thr) |
single nucleotide variant |
Kabuki syndrome [RCV000705139] |
Chr12:49033024 [GRCh38]
Chr12:49426807 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10502T>G (p.Val3501Gly) |
single nucleotide variant |
Kabuki syndrome [RCV000703136] |
Chr12:49034415 [GRCh38]
Chr12:49428198 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln) |
single nucleotide variant |
Kabuki syndrome [RCV000685040] |
Chr12:49046668 [GRCh38]
Chr12:49440451 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11408G>C (p.Gly3803Ala) |
single nucleotide variant |
Kabuki syndrome [RCV000697961] |
Chr12:49033297 [GRCh38]
Chr12:49427080 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.624A>G (p.Lys208=) |
single nucleotide variant |
Kabuki syndrome [RCV000699770] |
Chr12:49054027 [GRCh38]
Chr12:49447810 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9266T>C (p.Val3089Ala) |
single nucleotide variant |
Kabuki syndrome [RCV000705691] |
Chr12:49038090 [GRCh38]
Chr12:49431873 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7559G>A (p.Arg2520Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001391727]|not provided [RCV000691695] |
Chr12:49040211 [GRCh38]
Chr12:49433994 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7967T>C (p.Leu2656Ser) |
single nucleotide variant |
Kabuki syndrome [RCV000691724] |
Chr12:49039803 [GRCh38]
Chr12:49433586 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7649C>A (p.Pro2550His) |
single nucleotide variant |
KMT2D-related condition [RCV003411596]|Kabuki syndrome [RCV000686273] |
Chr12:49040121 [GRCh38]
Chr12:49433904 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000768009]|Kabuki syndrome 1 [RCV003224415]|Kabuki syndrome [RCV003768306]|not provided [RCV001785720] |
Chr12:49040442 [GRCh38]
Chr12:49434225 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4020+27A>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV001001909]|not provided [RCV001615110] |
Chr12:49049078 [GRCh38]
Chr12:49442861 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15962A>G (p.Tyr5321Cys) |
single nucleotide variant |
Intellectual disability [RCV001251821] |
Chr12:49024668 [GRCh38]
Chr12:49418451 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2306A>C (p.His769Pro) |
single nucleotide variant |
Intellectual disability [RCV001251814] |
Chr12:49051377 [GRCh38]
Chr12:49445160 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11886A>T (p.Gln3962His) |
single nucleotide variant |
Intellectual disability [RCV001251817] |
Chr12:49032819 [GRCh38]
Chr12:49426602 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14113_14123del (p.Ile4705fs) |
deletion |
Kabuki syndrome 1 [RCV001530182] |
Chr12:49029189..49029199 [GRCh38]
Chr12:49422972..49422982 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11461C>T (p.Gln3821Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001543602] |
Chr12:49033244 [GRCh38]
Chr12:49427027 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8626del (p.Gln2876fs) |
deletion |
Complement component C1s deficiency [RCV000754083] |
Chr12:49038730 [GRCh38]
Chr12:49432513 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh37/hg19 12q13.11-13.12(chr12:49055179-49466566)x3 |
copy number gain |
not provided [RCV000750395] |
Chr12:49055179..49466566 [GRCh37]
Chr12:12q13.11-13.12 |
benign |
| NM_003482.4(KMT2D):c.4419-42G>A |
single nucleotide variant |
not provided [RCV001680967] |
Chr12:49046466 [GRCh38]
Chr12:49440249 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14137A>G (p.Ser4713Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001889197] |
Chr12:49029175 [GRCh38]
Chr12:49422958 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4131+245T>C |
single nucleotide variant |
not provided [RCV001583181] |
Chr12:49048414 [GRCh38]
Chr12:49442197 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13587C>T (p.Ser4529=) |
single nucleotide variant |
Kabuki syndrome [RCV002073134]|not provided [RCV001666936] |
Chr12:49030977 [GRCh38]
Chr12:49424760 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15707A>G (p.Asn5236Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001591763] |
Chr12:49026259 [GRCh38]
Chr12:49420042 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14761T>C (p.Leu4921=) |
single nucleotide variant |
not provided [RCV001708778] |
Chr12:49027205 [GRCh38]
Chr12:49420988 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7306del (p.Cys2436fs) |
deletion |
not provided [RCV001541933] |
Chr12:49040464 [GRCh38]
Chr12:49434247 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001542365]|Kabuki syndrome [RCV002568947] |
Chr12:49052407 [GRCh38]
Chr12:49446190 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5982C>T (p.Asp1994=) |
single nucleotide variant |
KMT2D-related condition [RCV003892156]|Kabuki syndrome [RCV002542144]|not provided [RCV003392693] |
Chr12:49042216 [GRCh38]
Chr12:49435999 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7696T>C (p.Phe2566Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002568463]|not provided [RCV001571936] |
Chr12:49040074 [GRCh38]
Chr12:49433857 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.955-24G>T |
single nucleotide variant |
not provided [RCV001645060] |
Chr12:49053096 [GRCh38]
Chr12:49446879 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14383-170T>C |
single nucleotide variant |
not provided [RCV001611848] |
Chr12:49028311 [GRCh38]
Chr12:49422094 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3204T>G (p.Ala1068=) |
single nucleotide variant |
not provided [RCV000917400] |
Chr12:49050384 [GRCh38]
Chr12:49444167 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4558C>T (p.Leu1520=) |
single nucleotide variant |
not provided [RCV000872068] |
Chr12:49046285 [GRCh38]
Chr12:49440068 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10249G>A (p.Ala3417Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002570756]|Kabuki syndrome [RCV001882669]|not provided [RCV001566513] |
Chr12:49034918 [GRCh38]
Chr12:49428701 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14251+35T>C |
single nucleotide variant |
not provided [RCV001548549] |
Chr12:49029026 [GRCh38]
Chr12:49422809 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3016G>C (p.Gly1006Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002573330]|Kabuki syndrome [RCV001866181]|not provided [RCV001584020] |
Chr12:49050572 [GRCh38]
Chr12:49444355 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12778C>T (p.Gln4260Ter) |
single nucleotide variant |
not provided [RCV000760813] |
Chr12:49031927 [GRCh38]
Chr12:49425710 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12136G>A (p.Gly4046Arg) |
single nucleotide variant |
not provided [RCV000761825] |
Chr12:49032569 [GRCh38]
Chr12:49426352 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7018C>T (p.Pro2340Ser) |
single nucleotide variant |
not provided [RCV000761826] |
Chr12:49040752 [GRCh38]
Chr12:49434535 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3893C>A (p.Ser1298Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002533884]|not provided [RCV000761827] |
Chr12:49049695 [GRCh38]
Chr12:49443478 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4262G>A (p.Gly1421Asp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000760196] |
Chr12:49046765 [GRCh38]
Chr12:49440548 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1769dup (p.Met590fs) |
duplication |
Autism spectrum disorder due to AUTS2 deficiency [RCV000760204] |
Chr12:49051913..49051914 [GRCh38]
Chr12:49445696..49445697 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.945del (p.Ser314_Trp315insTer) |
deletion |
Kabuki syndrome 1 [RCV000760223] |
Chr12:49053216 [GRCh38]
Chr12:49446999 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14568G>A (p.Trp4856Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000760268] |
Chr12:49027878 [GRCh38]
Chr12:49421661 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002533836]|Kabuki syndrome 1 [RCV002285172]|Kabuki syndrome 1 [RCV003883162]|Kabuki syndrome [RCV001855926]|not provided [RCV000760462] |
Chr12:49024612 [GRCh38]
Chr12:49418395 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9815C>T (p.Pro3272Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003267489] |
Chr12:49037541 [GRCh38]
Chr12:49431324 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1031C>G (p.Ser344Cys) |
single nucleotide variant |
not provided [RCV003315039] |
Chr12:49052996 [GRCh38]
Chr12:49446779 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11151_11153dup (p.Glu3718dup) |
duplication |
not provided [RCV000994913] |
Chr12:49033551..49033552 [GRCh38]
Chr12:49427334..49427335 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2236C>T (p.Arg746Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001858799]|not provided [RCV000994915] |
Chr12:49051447 [GRCh38]
Chr12:49445230 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5101G>T (p.Val1701Leu) |
single nucleotide variant |
not provided [RCV003315025] |
Chr12:49044287 [GRCh38]
Chr12:49438070 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4693+24G>T |
single nucleotide variant |
not provided [RCV001544717] |
Chr12:49046041 [GRCh38]
Chr12:49439824 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000988838] |
Chr12:49040749 [GRCh38]
Chr12:49434532 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14000-202del |
deletion |
not provided [RCV001667127] |
Chr12:49029678 [GRCh38]
Chr12:49423461 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11515dup (p.Gln3839fs) |
duplication |
not provided [RCV003314893] |
Chr12:49033189..49033190 [GRCh38]
Chr12:49426972..49426973 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.955-1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV003315107] |
Chr12:49053073 [GRCh38]
Chr12:49446856 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6109G>C (p.Asp2037His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001554340] |
Chr12:49042089 [GRCh38]
Chr12:49435872 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6490C>T (p.Pro2164Ser) |
single nucleotide variant |
not provided [RCV001551290] |
Chr12:49041280 [GRCh38]
Chr12:49435063 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2603C>G (p.Pro868Arg) |
single nucleotide variant |
not provided [RCV003239176] |
Chr12:49051080 [GRCh38]
Chr12:49444863 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7787C>T (p.Pro2596Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002032648]|not provided [RCV001663454] |
Chr12:49039983 [GRCh38]
Chr12:49433766 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5149C>T (p.Gln1717Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001066879] |
Chr12:49044239 [GRCh38]
Chr12:49438022 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4694-4A>G |
single nucleotide variant |
KMT2D-related condition [RCV003956307]|Kabuki syndrome [RCV002073041]|not provided [RCV001665144] |
Chr12:49045971 [GRCh38]
Chr12:49439754 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003447569]|Kabuki syndrome [RCV001858748]|not provided [RCV000992308] |
Chr12:49033358 [GRCh38]
Chr12:49427141 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13840-9A>C |
single nucleotide variant |
not provided [RCV001681112] |
Chr12:49030448 [GRCh38]
Chr12:49424231 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11214_11237del (p.Gln3738_Gln3745del) |
deletion |
not provided [RCV001090717] |
Chr12:49033468..49033491 [GRCh38]
Chr12:49427251..49427274 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15222C>T (p.Gly5074=) |
single nucleotide variant |
Kabuki syndrome [RCV002569081]|not provided [RCV001575878] |
Chr12:49026744 [GRCh38]
Chr12:49420527 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2132C>T (p.Pro711Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001882626]|not provided [RCV001549770] |
Chr12:49051551 [GRCh38]
Chr12:49445334 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1762_1763del (p.Ser588fs) |
deletion |
Kabuki syndrome [RCV001046489] |
Chr12:49051920..49051921 [GRCh38]
Chr12:49445703..49445704 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15630C>T (p.Tyr5210=) |
single nucleotide variant |
KMT2D-related condition [RCV003948344]|Kabuki syndrome [RCV002536843] |
Chr12:49026336 [GRCh38]
Chr12:49420119 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4324C>T (p.Leu1442=) |
single nucleotide variant |
KMT2D-related condition [RCV003895482]|not provided [RCV000899131] |
Chr12:49046703 [GRCh38]
Chr12:49440486 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16249C>T (p.Leu5417=) |
single nucleotide variant |
Kabuki syndrome [RCV000945886]|not provided [RCV001585877]|not specified [RCV001818929] |
Chr12:49022679 [GRCh38]
Chr12:49416462 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5783-10C>T |
single nucleotide variant |
KMT2D-related condition [RCV003895629]|Kabuki syndrome [RCV002066021] |
Chr12:49042655 [GRCh38]
Chr12:49436438 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.867G>A (p.Leu289=) |
single nucleotide variant |
not provided [RCV000927977] |
Chr12:49053294 [GRCh38]
Chr12:49447077 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4583+10T>C |
single nucleotide variant |
KMT2D-related condition [RCV003950601]|Kabuki syndrome [RCV002065706]|not provided [RCV000902816] |
Chr12:49046250 [GRCh38]
Chr12:49440033 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9547G>C (p.Ala3183Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003978225]|Kabuki syndrome [RCV001437656]|not provided [RCV000951373]|not specified [RCV001818971] |
Chr12:49037809 [GRCh38]
Chr12:49431592 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6396C>T (p.Pro2132=) |
single nucleotide variant |
KMT2D-related condition [RCV003970676]|Kabuki syndrome [RCV002066258]|not provided [RCV000947447] |
Chr12:49041374 [GRCh38]
Chr12:49435157 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2736C>T (p.Pro912=) |
single nucleotide variant |
KMT2D-related condition [RCV003913103]|Kabuki syndrome [RCV002065982]|not provided [RCV003389845] |
Chr12:49050947 [GRCh38]
Chr12:49444730 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14283T>C (p.Leu4761=) |
single nucleotide variant |
not provided [RCV000921640] |
Chr12:49028927 [GRCh38]
Chr12:49422710 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16521+7G>A |
single nucleotide variant |
Kabuki syndrome [RCV001452006]|not provided [RCV003392705] |
Chr12:49022036 [GRCh38]
Chr12:49415819 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2250G>A (p.Pro750=) |
single nucleotide variant |
KMT2D-related condition [RCV003960577]|Kabuki syndrome [RCV001413044]|not provided [RCV000946032] |
Chr12:49051433 [GRCh38]
Chr12:49445216 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1155C>G (p.Pro385=) |
single nucleotide variant |
not provided [RCV000926734] |
Chr12:49052667 [GRCh38]
Chr12:49446450 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9789G>A (p.Lys3263=) |
single nucleotide variant |
Kabuki syndrome [RCV003588695] |
Chr12:49037567 [GRCh38]
Chr12:49431350 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1569G>A (p.Pro523=) |
single nucleotide variant |
Kabuki syndrome [RCV001501310] |
Chr12:49052114 [GRCh38]
Chr12:49445897 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10944G>T (p.Pro3648=) |
single nucleotide variant |
Kabuki syndrome [RCV002546022] |
Chr12:49033761 [GRCh38]
Chr12:49427544 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4723A>C (p.Met1575Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003413715]|not provided [RCV000892474] |
Chr12:49045938 [GRCh38]
Chr12:49439721 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14643+9G>A |
single nucleotide variant |
Kabuki syndrome [RCV003588687] |
Chr12:49027794 [GRCh38]
Chr12:49421577 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.108A>G (p.Pro36=) |
single nucleotide variant |
not provided [RCV000906278] |
Chr12:49054968 [GRCh38]
Chr12:49448751 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5205G>T (p.Leu1735=) |
single nucleotide variant |
Kabuki syndrome [RCV002066499] |
Chr12:49043982 [GRCh38]
Chr12:49437765 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10809GCA[4] (p.Gln3612del) |
microsatellite |
Kabuki syndrome [RCV003588696] |
Chr12:49033882..49033884 [GRCh38]
Chr12:49427665..49427667 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8844A>G (p.Pro2948=) |
single nucleotide variant |
not provided [RCV000943799] |
Chr12:49038512 [GRCh38]
Chr12:49432295 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6822G>A (p.Ser2274=) |
single nucleotide variant |
Kabuki syndrome [RCV001397526] |
Chr12:49040948 [GRCh38]
Chr12:49434731 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1464G>A (p.Pro488=) |
single nucleotide variant |
Kabuki syndrome [RCV002066427] |
Chr12:49052219 [GRCh38]
Chr12:49446002 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) |
single nucleotide variant |
Kabuki syndrome [RCV000877369]|not provided [RCV001672976] |
Chr12:49050215 [GRCh38]
Chr12:49443998 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4395C>T (p.Pro1465=) |
single nucleotide variant |
Kabuki syndrome [RCV000865319]|not provided [RCV001619849] |
Chr12:49046632 [GRCh38]
Chr12:49440415 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11955G>A (p.Leu3985=) |
single nucleotide variant |
Kabuki syndrome [RCV003588698] |
Chr12:49032750 [GRCh38]
Chr12:49426533 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5169G>A (p.Gly1723=) |
single nucleotide variant |
KMT2D-related condition [RCV003962904]|Kabuki syndrome [RCV002066435] |
Chr12:49044219 [GRCh38]
Chr12:49438002 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15495C>T (p.Ile5165=) |
single nucleotide variant |
Kabuki syndrome [RCV003588691]|not provided [RCV000915665] |
Chr12:49026471 [GRCh38]
Chr12:49420254 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8022A>G (p.Gln2674=) |
single nucleotide variant |
Kabuki syndrome [RCV002540894] |
Chr12:49039748 [GRCh38]
Chr12:49433531 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=) |
single nucleotide variant |
KMT2D-related condition [RCV003970521]|Kabuki syndrome [RCV001516127]|not provided [RCV000924406] |
Chr12:49037636 [GRCh38]
Chr12:49431419 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2067C>T (p.Leu689=) |
single nucleotide variant |
Kabuki syndrome [RCV003588686] |
Chr12:49051616 [GRCh38]
Chr12:49445399 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002495297]|Kabuki syndrome [RCV000871738]|not provided [RCV001545597] |
Chr12:49052318 [GRCh38]
Chr12:49446101 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6519G>A (p.Ser2173=) |
single nucleotide variant |
KMT2D-related condition [RCV003895420]|Kabuki syndrome [RCV002065501]|not provided [RCV000885086] |
Chr12:49041251 [GRCh38]
Chr12:49435034 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.544_548del (p.Ile182fs) |
deletion |
Kabuki syndrome [RCV001058420] |
Chr12:49054103..49054107 [GRCh38]
Chr12:49447886..49447890 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13487C>T (p.Ala4496Val) |
single nucleotide variant |
Kabuki syndrome [RCV001062142] |
Chr12:49031218 [GRCh38]
Chr12:49425001 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15289C>T (p.Arg5097Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001055633]|not provided [RCV001823181] |
Chr12:49026677 [GRCh38]
Chr12:49420460 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11769del (p.Gln3923fs) |
deletion |
Kabuki syndrome [RCV001061714] |
Chr12:49032936 [GRCh38]
Chr12:49426719 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13651_15785-305del |
deletion |
Kabuki syndrome [RCV001069705] |
Chr12:49025251..49030913 [GRCh38]
Chr12:49419034..49424696 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9564G>A (p.Thr3188=) |
single nucleotide variant |
Kabuki syndrome [RCV001051619] |
Chr12:49037792 [GRCh38]
Chr12:49431575 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14382+5G>A |
single nucleotide variant |
Kabuki syndrome [RCV001053560] |
Chr12:49028823 [GRCh38]
Chr12:49422606 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15185G>A (p.Cys5062Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV001042852] |
Chr12:49026781 [GRCh38]
Chr12:49420564 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1748del (p.Pro583fs) |
deletion |
Kabuki syndrome [RCV001052432] |
Chr12:49051935 [GRCh38]
Chr12:49445718 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9970G>C (p.Gly3324Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001060509] |
Chr12:49037386 [GRCh38]
Chr12:49431169 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2756C>T (p.Pro919Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001034464] |
Chr12:49050927 [GRCh38]
Chr12:49444710 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5278A>T (p.Lys1760Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000856790] |
Chr12:49043909 [GRCh38]
Chr12:49437692 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5267G>A (p.Arg1756Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000768005]|Kabuki syndrome 1 [RCV003224413]|Kabuki syndrome [RCV003588677] |
Chr12:49043920 [GRCh38]
Chr12:49437703 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5199_5206dup (p.Pro1736fs) |
duplication |
Kabuki syndrome [RCV000802534] |
Chr12:49043980..49043981 [GRCh38]
Chr12:49437763..49437764 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9964C>T (p.Gln3322Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000786997] |
Chr12:49037392 [GRCh38]
Chr12:49431175 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12811_12814del (p.Thr4271fs) |
microsatellite |
Kabuki syndrome [RCV000804438] |
Chr12:49031891..49031894 [GRCh38]
Chr12:49425674..49425677 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4400del (p.Gly1467fs) |
deletion |
Kabuki syndrome [RCV000804950] |
Chr12:49046627 [GRCh38]
Chr12:49440410 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10706_10707dup (p.Gln3570fs) |
microsatellite |
Kabuki syndrome [RCV000805864] |
Chr12:49034099..49034100 [GRCh38]
Chr12:49427882..49427883 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12339A>G (p.Gly4113=) |
single nucleotide variant |
Kabuki syndrome [RCV000807396] |
Chr12:49032366 [GRCh38]
Chr12:49426149 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.16294C>T (p.Arg5432Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003413575]|Kabuki syndrome 1 [RCV002509534]|Kabuki syndrome [RCV003588678]|See cases [RCV003156134]|not provided [RCV000782029] |
Chr12:49022634 [GRCh38]
Chr12:49416417 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2579del (p.Leu860fs) |
deletion |
Kabuki syndrome 1 [RCV000789035] |
Chr12:49051104 [GRCh38]
Chr12:49444887 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12935C>T (p.Ser4312Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000778068] |
Chr12:49031770 [GRCh38]
Chr12:49425553 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9225G>A (p.Ser3075=) |
single nucleotide variant |
not provided [RCV000888288] |
Chr12:49038131 [GRCh38]
Chr12:49431914 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12816C>A (p.Gly4272=) |
single nucleotide variant |
KMT2D-related condition [RCV003895618]|Kabuki syndrome [RCV002544967] |
Chr12:49031889 [GRCh38]
Chr12:49425672 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15558C>T (p.His5186=) |
single nucleotide variant |
KMT2D-related condition [RCV003968003]|Kabuki syndrome 1 [RCV002507560]|Kabuki syndrome [RCV002065472]|not provided [RCV000882186]|not specified [RCV001817077] |
Chr12:49026408 [GRCh38]
Chr12:49420191 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8265G>A (p.Lys2755=) |
single nucleotide variant |
Kabuki syndrome [RCV002065751] |
Chr12:49039323 [GRCh38]
Chr12:49433106 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3045C>T (p.Ile1015=) |
single nucleotide variant |
KMT2D-related condition [RCV003955697]|Kabuki syndrome [RCV002064717]|not provided [RCV000872952] |
Chr12:49050543 [GRCh38]
Chr12:49444326 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5007C>T (p.Pro1669=) |
single nucleotide variant |
Kabuki syndrome [RCV002066118]|not provided [RCV003392699]|not specified [RCV001818903] |
Chr12:49044479 [GRCh38]
Chr12:49438262 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1328C>A (p.Pro443Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001415683] |
Chr12:49052355 [GRCh38]
Chr12:49446138 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9297C>T (p.Arg3099=) |
single nucleotide variant |
KMT2D-related condition [RCV003892154]|Kabuki syndrome [RCV002065771] |
Chr12:49038059 [GRCh38]
Chr12:49431842 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.462C>T (p.Gly154=) |
single nucleotide variant |
not provided [RCV000930989] |
Chr12:49054355 [GRCh38]
Chr12:49448138 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5868-10T>C |
single nucleotide variant |
Kabuki syndrome [RCV000931067] |
Chr12:49042340 [GRCh38]
Chr12:49436123 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.507A>C (p.Ser169=) |
single nucleotide variant |
not provided [RCV000917059] |
Chr12:49054310 [GRCh38]
Chr12:49448093 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5640A>G (p.Thr1880=) |
single nucleotide variant |
Kabuki syndrome [RCV002548278] |
Chr12:49043080 [GRCh38]
Chr12:49436863 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.594G>A (p.Ala198=) |
single nucleotide variant |
Kabuki syndrome [RCV002540212] |
Chr12:49054057 [GRCh38]
Chr12:49447840 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15834del (p.Asp5279fs) |
deletion |
Kabuki syndrome 1 [RCV000856738] |
Chr12:49024897 [GRCh38]
Chr12:49418680 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2477C>A (p.Pro826His) |
single nucleotide variant |
Kabuki syndrome [RCV001494839]|not provided [RCV000942720] |
Chr12:49051206 [GRCh38]
Chr12:49444989 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13629C>T (p.Asp4543=) |
single nucleotide variant |
KMT2D-related condition [RCV003933049]|Kabuki syndrome [RCV002065885]|not provided [RCV000916201] |
Chr12:49030935 [GRCh38]
Chr12:49424718 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6998C>T (p.Pro2333Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003942998]|Kabuki syndrome [RCV000946376]|not provided [RCV002546009] |
Chr12:49040772 [GRCh38]
Chr12:49434555 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3855G>A (p.Glu1285=) |
single nucleotide variant |
not provided [RCV000909172] |
Chr12:49049733 [GRCh38]
Chr12:49443516 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3907-9T>G |
single nucleotide variant |
Kabuki syndrome [RCV002065615]|not provided [RCV000895124]|not specified [RCV001818700] |
Chr12:49049227 [GRCh38]
Chr12:49443010 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) |
single nucleotide variant |
KMT2D-related condition [RCV003948258]|Kabuki syndrome [RCV000877694]|not provided [RCV001692314]|not specified [RCV001664523] |
Chr12:49026411 [GRCh38]
Chr12:49420194 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4543G>A (p.Val1515Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003753160] |
Chr12:49046300 [GRCh38]
Chr12:49440083 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6399C>T (p.Ala2133=) |
single nucleotide variant |
Kabuki syndrome [RCV003768731]|not provided [RCV000877254] |
Chr12:49041371 [GRCh38]
Chr12:49435154 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15019C>T (p.Arg5007Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003955756]|Kabuki syndrome [RCV000877313]|not provided [RCV001683685] |
Chr12:49026947 [GRCh38]
Chr12:49420730 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8481C>T (p.Thr2827=) |
single nucleotide variant |
KMT2D-related condition [RCV003895369]|Kabuki syndrome [RCV002064827]|not provided [RCV000875810] |
Chr12:49038875 [GRCh38]
Chr12:49432658 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4695G>A (p.Ala1565=) |
single nucleotide variant |
Kabuki syndrome [RCV002066285]|not provided [RCV000951653] |
Chr12:49045966 [GRCh38]
Chr12:49439749 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4525A>G (p.Ile1509Val) |
single nucleotide variant |
KMT2D-related condition [RCV003943064]|Kabuki syndrome [RCV000954007]|not provided [RCV001709698]|not specified [RCV001818988] |
Chr12:49046318 [GRCh38]
Chr12:49440101 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1 |
copy number loss |
Kabuki syndrome 1 [RCV000859976] |
Chr12:49034325..49468966 [GRCh37]
Chr12:12q13.11-13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12848C>G (p.Pro4283Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001435489]|not provided [RCV000943965] |
Chr12:49031857 [GRCh38]
Chr12:49425640 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.13483C>T (p.Leu4495=) |
single nucleotide variant |
not provided [RCV000919185] |
Chr12:49031222 [GRCh38]
Chr12:49425005 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4131+8A>C |
single nucleotide variant |
Kabuki syndrome [RCV003768700] |
Chr12:49048651 [GRCh38]
Chr12:49442434 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13467G>A (p.Gly4489=) |
single nucleotide variant |
not provided [RCV000929099] |
Chr12:49031238 [GRCh38]
Chr12:49425021 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4742-5T>C |
single nucleotide variant |
KMT2D-related condition [RCV003958357]|Kabuki syndrome [RCV002542130] |
Chr12:49044970 [GRCh38]
Chr12:49438753 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10021C>T (p.Gln3341Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003314364] |
Chr12:49037335 [GRCh38]
Chr12:49431118 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2639T>C (p.Leu880Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003271867] |
Chr12:49051044 [GRCh38]
Chr12:49444827 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10975C>A (p.Pro3659Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003271739] |
Chr12:49033730 [GRCh38]
Chr12:49427513 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1395dup (p.Arg466fs) |
duplication |
Kabuki syndrome 1 [RCV000767339] |
Chr12:49052287..49052288 [GRCh38]
Chr12:49446070..49446071 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2726C>T (p.Ser909Phe) |
single nucleotide variant |
Kabuki syndrome [RCV000813398] |
Chr12:49050957 [GRCh38]
Chr12:49444740 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5869G>T (p.Glu1957Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000856795] |
Chr12:49042329 [GRCh38]
Chr12:49436112 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9223dup (p.Ser3075fs) |
duplication |
Kabuki syndrome 1 [RCV000856811] |
Chr12:49038132..49038133 [GRCh38]
Chr12:49431915..49431916 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10692C>T (p.Leu3564=) |
single nucleotide variant |
not provided [RCV000915682] |
Chr12:49034115 [GRCh38]
Chr12:49427898 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5319+1G>A |
single nucleotide variant |
Kabuki syndrome [RCV000813800] |
Chr12:49043867 [GRCh38]
Chr12:49437650 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001029731] |
Chr12:49054910 [GRCh38]
Chr12:49448693 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10785T>C (p.Tyr3595=) |
single nucleotide variant |
not provided [RCV000842283] |
Chr12:49033920 [GRCh38]
Chr12:49427703 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6508del (p.Gln2170fs) |
deletion |
Kabuki syndrome [RCV000798566] |
Chr12:49041262 [GRCh38]
Chr12:49435045 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3688C>T (p.Pro1230Ser) |
single nucleotide variant |
Kabuki syndrome [RCV000800418] |
Chr12:49049900 [GRCh38]
Chr12:49443683 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8424G>T (p.Leu2808=) |
single nucleotide variant |
not provided [RCV000936279] |
Chr12:49038932 [GRCh38]
Chr12:49432715 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs) |
microsatellite |
Kabuki syndrome 1 [RCV001809804]|Lymphoma [RCV000790857] |
Chr12:49034182..49034183 [GRCh38]
Chr12:49427965..49427966 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.11897_11911del (p.Phe3966_Gln3971delinsTer) |
deletion |
Lymphoma [RCV000790858] |
Chr12:49032794..49032808 [GRCh38]
Chr12:49426577..49426591 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6465G>A (p.Ser2155=) |
single nucleotide variant |
Kabuki syndrome [RCV001426011]|not provided [RCV003389841] |
Chr12:49041305 [GRCh38]
Chr12:49435088 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11971C>T (p.Gln3991Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000800601] |
Chr12:49032734 [GRCh38]
Chr12:49426517 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5868-1G>A |
single nucleotide variant |
Kabuki syndrome [RCV000807741] |
Chr12:49042331 [GRCh38]
Chr12:49436114 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14976del (p.Leu4993fs) |
deletion |
Kabuki syndrome 1 [RCV000988829] |
Chr12:49026990 [GRCh38]
Chr12:49420773 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.176+1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000988843] |
Chr12:49054899 [GRCh38]
Chr12:49448682 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11968C>T (p.Gln3990Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000804521] |
Chr12:49032737 [GRCh38]
Chr12:49426520 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4525_4528del (p.Ile1509fs) |
deletion |
Kabuki syndrome [RCV000807988]|not provided [RCV001008285] |
Chr12:49046315..49046318 [GRCh38]
Chr12:49440098..49440101 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6991dup (p.Leu2331fs) |
duplication |
Kabuki syndrome [RCV000809114] |
Chr12:49040778..49040779 [GRCh38]
Chr12:49434561..49434562 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13531-11A>C |
single nucleotide variant |
not provided [RCV000827297] |
Chr12:49031044 [GRCh38]
Chr12:49424827 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8953A>T (p.Lys2985Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000815766] |
Chr12:49038403 [GRCh38]
Chr12:49432186 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6114G>A (p.Trp2038Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261266]|Kabuki syndrome [RCV000816142] |
Chr12:49041986 [GRCh38]
Chr12:49435769 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.1529C>G (p.Ser510Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000818574] |
Chr12:49052154 [GRCh38]
Chr12:49445937 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8229+1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000789030] |
Chr12:49039434 [GRCh38]
Chr12:49433217 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.595_604del (p.Thr199fs) |
deletion |
Kabuki syndrome 1 [RCV000786983] |
Chr12:49054047..49054056 [GRCh38]
Chr12:49447830..49447839 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7183_7214delinsACT (p.Cys2395fs) |
indel |
Kabuki syndrome [RCV000822114] |
Chr12:49040556..49040587 [GRCh38]
Chr12:49434339..49434370 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3788C>G (p.Ser1263Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000799599] |
Chr12:49049800 [GRCh38]
Chr12:49443583 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1467G>A (p.Leu489=) |
single nucleotide variant |
Kabuki syndrome [RCV000805002] |
Chr12:49052216 [GRCh38]
Chr12:49445999 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15621C>T (p.Pro5207=) |
single nucleotide variant |
Kabuki syndrome [RCV001475049]|not provided [RCV000992312] |
Chr12:49026345 [GRCh38]
Chr12:49420128 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8200C>T (p.Arg2734Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261270]|Kabuki syndrome [RCV000809405] |
Chr12:49039464 [GRCh38]
Chr12:49433247 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12231dup (p.Val4078fs) |
duplication |
not provided [RCV001090715] |
Chr12:49032473..49032474 [GRCh38]
Chr12:49426256..49426257 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4406G>A (p.Trp1469Ter) |
single nucleotide variant |
not provided [RCV001090723] |
Chr12:49046621 [GRCh38]
Chr12:49440404 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14076-2A>C |
single nucleotide variant |
Kabuki syndrome [RCV000818246] |
Chr12:49029238 [GRCh38]
Chr12:49423021 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6496C>T (p.Gln2166Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000796161] |
Chr12:49041274 [GRCh38]
Chr12:49435057 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.713del (p.Leu238fs) |
deletion |
Kabuki syndrome [RCV000796290] |
Chr12:49053602 [GRCh38]
Chr12:49447385 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11047C>T (p.Gln3683Ter) |
single nucleotide variant |
Cavernous sinus meningioma [RCV000786035]|Kabuki syndrome [RCV001382674] |
Chr12:49033658 [GRCh38]
Chr12:49427441 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.1033_1036del (p.Leu345fs) |
microsatellite |
Kabuki syndrome 1 [RCV000786057] |
Chr12:49052991..49052994 [GRCh38]
Chr12:49446774..49446777 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000785108]|Kabuki syndrome [RCV002535721] |
Chr12:49038354 [GRCh38]
Chr12:49432137 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8366+1G>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV000785616] |
Chr12:49039221 [GRCh38]
Chr12:49433004 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9947del (p.Gly3316fs) |
deletion |
Kabuki syndrome [RCV000797060] |
Chr12:49037409 [GRCh38]
Chr12:49431192 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11717_11752del (p.3900LQQQQQ[1]) |
deletion |
KMT2D-related condition [RCV003413588]|Kabuki syndrome 1 [RCV000791191]|Kabuki syndrome [RCV002535835] |
Chr12:49032953..49032988 [GRCh38]
Chr12:49426736..49426771 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12626C>T (p.Pro4209Leu) |
single nucleotide variant |
Kabuki syndrome [RCV000803861] |
Chr12:49032079 [GRCh38]
Chr12:49425862 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000988832] |
Chr12:49029172 [GRCh38]
Chr12:49422955 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1468_1471del (p.Glu490fs) |
deletion |
Kabuki syndrome [RCV000805000] |
Chr12:49052212..49052215 [GRCh38]
Chr12:49445995..49445998 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12715C>T (p.Gln4239Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000807749] |
Chr12:49031990 [GRCh38]
Chr12:49425773 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15050dup (p.Thr5018fs) |
duplication |
Kabuki syndrome [RCV000818811] |
Chr12:49026915..49026916 [GRCh38]
Chr12:49420698..49420699 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9906T>C (p.Ser3302=) |
single nucleotide variant |
not provided [RCV000920896] |
Chr12:49037450 [GRCh38]
Chr12:49431233 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13895dup (p.Ser4633fs) |
duplication |
Kabuki syndrome [RCV000822980] |
Chr12:49030383..49030384 [GRCh38]
Chr12:49424166..49424167 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16449C>T (p.Ala5483=) |
single nucleotide variant |
Kabuki syndrome [RCV000897577]|not provided [RCV001531783] |
Chr12:49022115 [GRCh38]
Chr12:49415898 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del) |
deletion |
Kabuki syndrome 1 [RCV000791035]|Kabuki syndrome [RCV001873233] |
Chr12:49051764..49051790 [GRCh38]
Chr12:49445547..49445573 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14823_14825delinsTGTT (p.Leu4941fs) |
indel |
Kabuki syndrome [RCV000797140] |
Chr12:49027141..49027143 [GRCh38]
Chr12:49420924..49420926 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6707_6708dup (p.Gln2237fs) |
microsatellite |
Kabuki syndrome [RCV000798480] |
Chr12:49041061..49041062 [GRCh38]
Chr12:49434844..49434845 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1825del (p.Ser609fs) |
deletion |
Kabuki syndrome [RCV000806917] |
Chr12:49051858 [GRCh38]
Chr12:49445641 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6621G>A (p.Ala2207=) |
single nucleotide variant |
Kabuki syndrome [RCV000871368]|not provided [RCV001597227] |
Chr12:49041149 [GRCh38]
Chr12:49434932 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2040G>A (p.Thr680=) |
single nucleotide variant |
not provided [RCV000917159] |
Chr12:49051643 [GRCh38]
Chr12:49445426 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12006A>G (p.Pro4002=) |
single nucleotide variant |
Kabuki syndrome [RCV000872849]|not provided [RCV001576571] |
Chr12:49032699 [GRCh38]
Chr12:49426482 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8044C>T (p.Gln2682Ter) |
single nucleotide variant |
Kabuki syndrome [RCV000815717] |
Chr12:49039726 [GRCh38]
Chr12:49433509 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3938G>T (p.Arg1313Leu) |
single nucleotide variant |
not provided [RCV001090724] |
Chr12:49049187 [GRCh38]
Chr12:49442970 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1259-3C>T |
single nucleotide variant |
not provided [RCV001090726] |
Chr12:49052427 [GRCh38]
Chr12:49446210 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10835A>G (p.Gln3612Arg) |
single nucleotide variant |
not provided [RCV001090718] |
Chr12:49033870 [GRCh38]
Chr12:49427653 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4656C>T (p.Asp1552=) |
single nucleotide variant |
KMT2D-related condition [RCV003893445]|Kabuki syndrome [RCV003825186] |
Chr12:49046102 [GRCh38]
Chr12:49439885 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14635C>T (p.Leu4879=) |
single nucleotide variant |
KMT2D-related condition [RCV003918623]|Kabuki syndrome [RCV002550637]|not provided [RCV000992310] |
Chr12:49027811 [GRCh38]
Chr12:49421594 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3238G>C (p.Glu1080Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002489470]|not provided [RCV000992314] |
Chr12:49050350 [GRCh38]
Chr12:49444133 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8789C>T (p.Pro2930Leu) |
single nucleotide variant |
not provided [RCV000992317] |
Chr12:49038567 [GRCh38]
Chr12:49432350 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13506A>G (p.Leu4502=) |
single nucleotide variant |
KMT2D-related condition [RCV003943096]|Kabuki syndrome [RCV000959433] |
Chr12:49031199 [GRCh38]
Chr12:49424982 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16209_16222del (p.Ser5404fs) |
deletion |
not provided [RCV001008330] |
Chr12:49022706..49022719 [GRCh38]
Chr12:49416489..49416502 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12066_12067insTCAG (p.Gly4023fs) |
insertion |
not provided [RCV001008417] |
Chr12:49032638..49032639 [GRCh38]
Chr12:49426421..49426422 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9792G>A (p.Gln3264=) |
single nucleotide variant |
not provided [RCV000914663] |
Chr12:49037564 [GRCh38]
Chr12:49431347 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9459G>C (p.Gly3153=) |
single nucleotide variant |
Kabuki syndrome [RCV000892186] |
Chr12:49037897 [GRCh38]
Chr12:49431680 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7492C>T (p.Leu2498=) |
single nucleotide variant |
Kabuki syndrome [RCV003588702] |
Chr12:49040278 [GRCh38]
Chr12:49434061 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14529G>T (p.Lys4843Asn) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000988831] |
Chr12:49027917 [GRCh38]
Chr12:49421700 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8230-1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV000988836] |
Chr12:49039359 [GRCh38]
Chr12:49433142 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12509C>T (p.Pro4170Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753162]|not provided [RCV000994912] |
Chr12:49032196 [GRCh38]
Chr12:49425979 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7129C>T (p.Pro2377Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753163]|not provided [RCV000994914] |
Chr12:49040641 [GRCh38]
Chr12:49434424 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001858750]|not provided [RCV000992311]|not specified [RCV001819701] |
Chr12:49026994 [GRCh38]
Chr12:49420777 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.3237A>C (p.Ser1079=) |
single nucleotide variant |
not provided [RCV000992313] |
Chr12:49050351 [GRCh38]
Chr12:49444134 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002275178]|Kabuki syndrome [RCV002549793]|not provided [RCV000992315] |
Chr12:49040886 [GRCh38]
Chr12:49434669 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.9328C>T (p.Arg3110Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003353146]|Kabuki syndrome [RCV001066573] |
Chr12:49038028 [GRCh38]
Chr12:49431811 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15089G>A (p.Arg5030His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000850498] |
Chr12:49026877 [GRCh38]
Chr12:49420660 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6607A>T (p.Thr2203Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002560232]|Kabuki syndrome 1 [RCV001197285]|Kabuki syndrome [RCV002560233] |
Chr12:49041163 [GRCh38]
Chr12:49434946 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4590G>A (p.Met1530Ile) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001197358] |
Chr12:49046168 [GRCh38]
Chr12:49439951 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10653_10654insT (p.Ala3552fs) |
insertion |
Kabuki syndrome 1 [RCV001196989] |
Chr12:49034153..49034154 [GRCh38]
Chr12:49427936..49427937 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8046+4del |
deletion |
Kabuki syndrome 1 [RCV000988837] |
Chr12:49039720 [GRCh38]
Chr12:49433503 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3895del (p.Arg1299fs) |
deletion |
not provided [RCV001171888] |
Chr12:49049693 [GRCh38]
Chr12:49443476 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14867del (p.Pro4956fs) |
deletion |
not provided [RCV001008247] |
Chr12:49027099 [GRCh38]
Chr12:49420882 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13884dup (p.Thr4629fs) |
duplication |
Kabuki syndrome [RCV001213864] |
Chr12:49030394..49030395 [GRCh38]
Chr12:49424177..49424178 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.858dup (p.Lys287Ter) |
duplication |
Kabuki syndrome 1 [RCV001197914]|not provided [RCV001008747] |
Chr12:49053302..49053303 [GRCh38]
Chr12:49447085..49447086 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.5349C>A (p.Asp1783Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001208319] |
Chr12:49043753 [GRCh38]
Chr12:49437536 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12370_12382del (p.Ser4124fs) |
deletion |
Kabuki syndrome [RCV001220654] |
Chr12:49032323..49032335 [GRCh38]
Chr12:49426106..49426118 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2241_2258del (p.Glu748_Ser753del) |
deletion |
Kabuki syndrome [RCV001224179] |
Chr12:49051425..49051442 [GRCh38]
Chr12:49445208..49445225 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3280C>T (p.Leu1094Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003263882]|Kabuki syndrome [RCV001240827] |
Chr12:49050308 [GRCh38]
Chr12:49444091 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.16338+1G>A |
single nucleotide variant |
Kabuki syndrome [RCV001240828] |
Chr12:49022589 [GRCh38]
Chr12:49416372 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11902C>T (p.Gln3968Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001223071] |
Chr12:49032803 [GRCh38]
Chr12:49426586 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5891C>T (p.Pro1964Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001209017] |
Chr12:49042307 [GRCh38]
Chr12:49436090 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12137G>A (p.Gly4046Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003973148]|Kabuki syndrome [RCV001223279] |
Chr12:49032568 [GRCh38]
Chr12:49426351 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15127A>G (p.Thr5043Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002563014]|Kabuki syndrome [RCV001221166] |
Chr12:49026839 [GRCh38]
Chr12:49420622 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7769C>A (p.Ser2590Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001227205] |
Chr12:49040001 [GRCh38]
Chr12:49433784 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15013del (p.Asp5005fs) |
deletion |
Kabuki syndrome [RCV001226463] |
Chr12:49026953 [GRCh38]
Chr12:49420736 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3539C>A (p.Ser1180Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001250413] |
Chr12:49050049 [GRCh38]
Chr12:49443832 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6239_6240insAGATCAACAAGCAGGTCTCCCCCTGT (p.Glu2081fs) |
insertion |
Kabuki syndrome 1 [RCV001250533] |
Chr12:49041530..49041531 [GRCh38]
Chr12:49435313..49435314 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13177dup (p.Ser4393fs) |
duplication |
Kabuki syndrome [RCV001210549] |
Chr12:49031527..49031528 [GRCh38]
Chr12:49425310..49425311 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11594_11602delinsC (p.Gln3865fs) |
indel |
Kabuki syndrome [RCV001246333] |
Chr12:49033103..49033111 [GRCh38]
Chr12:49426886..49426894 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14753del (p.Pro4918fs) |
deletion |
Kabuki syndrome 1 [RCV000853322] |
Chr12:49027213 [GRCh38]
Chr12:49420996 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3510C>T (p.Pro1170=) |
single nucleotide variant |
Kabuki syndrome [RCV003753266]|not provided [RCV003312229] |
Chr12:49050078 [GRCh38]
Chr12:49443861 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6842C>T (p.Ser2281Phe) |
single nucleotide variant |
not provided [RCV003317988] |
Chr12:49040928 [GRCh38]
Chr12:49434711 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.377C>T (p.Pro126Leu) |
single nucleotide variant |
not provided [RCV003313618] |
Chr12:49054551 [GRCh38]
Chr12:49448334 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003906122]|Kabuki syndrome 1 [RCV000988830]|Kabuki syndrome [RCV001510488] |
Chr12:49027073 [GRCh38]
Chr12:49420856 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10777del (p.Ala3593fs) |
deletion |
Kabuki syndrome 1 [RCV000988834] |
Chr12:49033928 [GRCh38]
Chr12:49427711 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15157GACCTG[3] (p.5053DL[3]) |
microsatellite |
Kabuki syndrome 1 [RCV000995576]|Kabuki syndrome [RCV002549914] |
Chr12:49026797..49026798 [GRCh38]
Chr12:49420580..49420581 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.14152G>A (p.Glu4718Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001195869] |
Chr12:49029160 [GRCh38]
Chr12:49422943 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15323G>A (p.Arg5108His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001249274]|not provided [RCV001760290] |
Chr12:49026643 [GRCh38]
Chr12:49420426 [GRCh37]
Chr12:12q13.12 |
uncertain significance|not provided |
| NM_003482.4(KMT2D):c.1223_1229dup (p.Pro411fs) |
duplication |
Kabuki syndrome 1 [RCV001250566] |
Chr12:49052592..49052593 [GRCh38]
Chr12:49446375..49446376 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2088_2141del (p.Pro697_Ser714del) |
deletion |
not provided [RCV001090725] |
Chr12:49051542..49051595 [GRCh38]
Chr12:49445325..49445378 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11702AGC[4] (p.Gln3905del) |
microsatellite |
not provided [RCV001090716] |
Chr12:49032989..49032991 [GRCh38]
Chr12:49426772..49426774 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2532_2585del (p.Glu848_Glu865del) |
deletion |
Kabuki syndrome [RCV001228291]|not provided [RCV001732082] |
Chr12:49051098..49051151 [GRCh38]
Chr12:49444881..49444934 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001249846]|Kabuki syndrome [RCV001879766] |
Chr12:49041456 [GRCh38]
Chr12:49435239 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.352A>G (p.Ile118Val) |
single nucleotide variant |
not provided [RCV003127160] |
Chr12:49054576 [GRCh38]
Chr12:49448359 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15047T>C (p.Leu5016Pro) |
single nucleotide variant |
Autism spectrum disorder [RCV003127298] |
Chr12:49026919 [GRCh38]
Chr12:49420702 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16445T>A (p.Val5482Glu) |
single nucleotide variant |
Autism spectrum disorder [RCV003127299] |
Chr12:49022119 [GRCh38]
Chr12:49415902 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.417C>G (p.His139Gln) |
single nucleotide variant |
Autism spectrum disorder [RCV003127300] |
Chr12:49054400 [GRCh38]
Chr12:49448183 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16146C>G (p.His5382Gln) |
single nucleotide variant |
Autism spectrum disorder [RCV003127301] |
Chr12:49022782 [GRCh38]
Chr12:49416565 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4771_4772del (p.Trp1591fs) |
microsatellite |
Kabuki syndrome 1 [RCV003236635] |
Chr12:49044935..49044936 [GRCh38]
Chr12:49438718..49438719 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.50-2A>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV003233375] |
Chr12:49055028 [GRCh38]
Chr12:49448811 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15721T>G (p.Phe5241Val) |
single nucleotide variant |
not provided [RCV003234505] |
Chr12:49026245 [GRCh38]
Chr12:49420028 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16500del (p.Arg5501fs) |
deletion |
not provided [RCV003126329] |
Chr12:49022064 [GRCh38]
Chr12:49415847 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7841C>G (p.Ser2614Trp) |
single nucleotide variant |
not provided [RCV003237197] |
Chr12:49039929 [GRCh38]
Chr12:49433712 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5565A>G (p.Pro1855=) |
single nucleotide variant |
Kabuki syndrome [RCV003105213] |
Chr12:49043155 [GRCh38]
Chr12:49436938 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1080C>T (p.Ser360=) |
single nucleotide variant |
Kabuki syndrome [RCV002072228]|not provided [RCV001572014] |
Chr12:49052947 [GRCh38]
Chr12:49446730 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13531-61_13531-58del |
microsatellite |
not provided [RCV001643856] |
Chr12:49031091..49031094 [GRCh38]
Chr12:49424874..49424877 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1258+5G>A |
single nucleotide variant |
not provided [RCV001579707] |
Chr12:49052559 [GRCh38]
Chr12:49446342 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14250A>T (p.Pro4750=) |
single nucleotide variant |
KMT2D-related condition [RCV003948587]|Kabuki syndrome [RCV002568332]|not provided [RCV001551553] |
Chr12:49029062 [GRCh38]
Chr12:49422845 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3073T>C (p.Ser1025Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003107291] |
Chr12:49050515 [GRCh38]
Chr12:49444298 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14643+3A>T |
single nucleotide variant |
KMT2D-related condition [RCV003980700]|Kabuki syndrome [RCV003588746]|not provided [RCV001568238] |
Chr12:49027800 [GRCh38]
Chr12:49421583 [GRCh37]
Chr12:12q13.12 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.4741+182T>C |
single nucleotide variant |
not provided [RCV001663066] |
Chr12:49045738 [GRCh38]
Chr12:49439521 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13316C>T (p.Pro4439Leu) |
single nucleotide variant |
not provided [RCV003318251] |
Chr12:49031389 [GRCh38]
Chr12:49425172 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.711G>A (p.Glu237=) |
single nucleotide variant |
KMT2D-related condition [RCV003941050]|Kabuki syndrome [RCV002072925]|not provided [RCV001621233] |
Chr12:49053604 [GRCh38]
Chr12:49447387 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5320-9G>C |
single nucleotide variant |
KMT2D-related condition [RCV003900850]|Kabuki syndrome [RCV002538655]|not provided [RCV001715555] |
Chr12:49043791 [GRCh38]
Chr12:49437574 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met) |
single nucleotide variant |
KMT2D-related condition [RCV003426174]|Kabuki syndrome [RCV002568402]|not provided [RCV001560553] |
Chr12:49039249 [GRCh38]
Chr12:49433032 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4741+44G>A |
single nucleotide variant |
not provided [RCV001637706]|not specified [RCV003487571] |
Chr12:49045876 [GRCh38]
Chr12:49439659 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.177-49A>C |
single nucleotide variant |
not provided [RCV001713505] |
Chr12:49054800 [GRCh38]
Chr12:49448583 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4307C>T (p.Ala1436Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001706903] |
Chr12:49046720 [GRCh38]
Chr12:49440503 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3389C>T (p.Ala1130Val) |
single nucleotide variant |
Kabuki syndrome [RCV002072189]|not provided [RCV001568858] |
Chr12:49050199 [GRCh38]
Chr12:49443982 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10794GCA[2] (p.Gln3612del) |
microsatellite |
KMT2D-related condition [RCV003956245]|Kabuki syndrome [RCV002072080]|not provided [RCV001555636] |
Chr12:49033903..49033905 [GRCh38]
Chr12:49427686..49427688 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5645-29C>G |
single nucleotide variant |
not provided [RCV001695434] |
Chr12:49042907 [GRCh38]
Chr12:49436690 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14071G>A (p.Val4691Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002568408]|not provided [RCV001561423] |
Chr12:49029405 [GRCh38]
Chr12:49423188 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10507+4A>G |
single nucleotide variant |
not provided [RCV001591613] |
Chr12:49034406 [GRCh38]
Chr12:49428189 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4464del (p.Cys1489fs) |
deletion |
Kabuki syndrome 1 [RCV001594443] |
Chr12:49046379 [GRCh38]
Chr12:49440162 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1113-68C>A |
single nucleotide variant |
not provided [RCV001690956] |
Chr12:49052777 [GRCh38]
Chr12:49446560 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10809G>A (p.Gln3603=) |
single nucleotide variant |
Kabuki syndrome [RCV002539685]|not provided [RCV001690990] |
Chr12:49033896 [GRCh38]
Chr12:49427679 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4421G>T (p.Cys1474Phe) |
single nucleotide variant |
not provided [RCV001556435] |
Chr12:49046422 [GRCh38]
Chr12:49440205 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4646A>T (p.Glu1549Val) |
single nucleotide variant |
Kabuki syndrome [RCV002568413]|not provided [RCV001561976] |
Chr12:49046112 [GRCh38]
Chr12:49439895 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10787G>C (p.Arg3596Pro) |
single nucleotide variant |
not provided [RCV001556669] |
Chr12:49033918 [GRCh38]
Chr12:49427701 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2184A>G (p.Leu728=) |
single nucleotide variant |
KMT2D-related condition [RCV003948635]|Kabuki syndrome [RCV002072350]|not provided [RCV001594178] |
Chr12:49051499 [GRCh38]
Chr12:49445282 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9296G>A (p.Arg3099His) |
single nucleotide variant |
KMT2D-related condition [RCV003941100]|Kabuki syndrome [RCV002073317]|not provided [RCV001709358] |
Chr12:49038060 [GRCh38]
Chr12:49431843 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7220C>T (p.Pro2407Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003588749]|not provided [RCV001589474] |
Chr12:49040550 [GRCh38]
Chr12:49434333 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13671+60C>T |
single nucleotide variant |
not provided [RCV001691569]|not specified [RCV003487719] |
Chr12:49030833 [GRCh38]
Chr12:49424616 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6184-52C>T |
single nucleotide variant |
not provided [RCV001563049] |
Chr12:49041757 [GRCh38]
Chr12:49435540 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9485G>A (p.Gly3162Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003426175]|Kabuki syndrome [RCV001865985]|not provided [RCV001563177] |
Chr12:49037871 [GRCh38]
Chr12:49431654 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6441G>A (p.Ala2147=) |
single nucleotide variant |
Kabuki syndrome [RCV002070396]|not provided [RCV001564286]|not specified [RCV001821894] |
Chr12:49041329 [GRCh38]
Chr12:49435112 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4742-43G>A |
single nucleotide variant |
not provided [RCV001620371] |
Chr12:49045008 [GRCh38]
Chr12:49438791 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1787C>A (p.Ala596Glu) |
single nucleotide variant |
not provided [RCV001652960] |
Chr12:49051896 [GRCh38]
Chr12:49445679 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15311G>T (p.Cys5104Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001644561] |
Chr12:49026655 [GRCh38]
Chr12:49420438 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8907G>A (p.Ser2969=) |
single nucleotide variant |
Kabuki syndrome [RCV002073221]|not provided [RCV001694223] |
Chr12:49038449 [GRCh38]
Chr12:49432232 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11826A>G (p.Gln3942=) |
single nucleotide variant |
KMT2D-related condition [RCV003956308]|Kabuki syndrome [RCV002073044]|not provided [RCV001665243] |
Chr12:49032879 [GRCh38]
Chr12:49426662 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002538545]|KMT2D-related condition [RCV003401565]|Kabuki syndrome 1 [RCV003234088]|Kabuki syndrome [RCV003753189]|not provided [RCV001665369] |
Chr12:49050398 [GRCh38]
Chr12:49444181 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance|not provided |
| NM_003482.4(KMT2D):c.15975C>T (p.Pro5325=) |
single nucleotide variant |
KMT2D-related condition [RCV003900822]|Kabuki syndrome [RCV002072336]|not provided [RCV001587955] |
Chr12:49024655 [GRCh38]
Chr12:49418438 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4132-53G>C |
single nucleotide variant |
not provided [RCV001575677] |
Chr12:49048122 [GRCh38]
Chr12:49441905 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13795G>A (p.Ala4599Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003921219]|Kabuki syndrome [RCV002072114]|not provided [RCV001558913] |
Chr12:49030645 [GRCh38]
Chr12:49424428 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13451G>A (p.Arg4484Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002568391]|not provided [RCV001559342] |
Chr12:49031254 [GRCh38]
Chr12:49425037 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7354C>T (p.Arg2452Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002072118]|not provided [RCV001559509] |
Chr12:49040416 [GRCh38]
Chr12:49434199 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5820A>G (p.Pro1940=) |
single nucleotide variant |
KMT2D-related condition [RCV003921253]|Kabuki syndrome [RCV003753184]|not provided [RCV001588084] |
Chr12:49042608 [GRCh38]
Chr12:49436391 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.783T>C (p.Thr261=) |
single nucleotide variant |
Kabuki syndrome [RCV003588751]|not provided [RCV001588110] |
Chr12:49053532 [GRCh38]
Chr12:49447315 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6010C>T (p.Gln2004Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV000853285] |
Chr12:49042188 [GRCh38]
Chr12:49435971 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9615A>G (p.Gly3205=) |
single nucleotide variant |
not provided [RCV000940054] |
Chr12:49037741 [GRCh38]
Chr12:49431524 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9739C>T (p.Leu3247=) |
single nucleotide variant |
KMT2D-related condition [RCV003897964]|Kabuki syndrome [RCV002066441] |
Chr12:49037617 [GRCh38]
Chr12:49431400 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1602G>A (p.Thr534=) |
single nucleotide variant |
Kabuki syndrome [RCV002066157] |
Chr12:49052081 [GRCh38]
Chr12:49445864 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3765C>T (p.Gly1255=) |
single nucleotide variant |
Kabuki syndrome [RCV000909068] |
Chr12:49049823 [GRCh38]
Chr12:49443606 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1554G>A (p.Ser518=) |
single nucleotide variant |
KMT2D-related condition [RCV003895765]|Kabuki syndrome [RCV002066312] |
Chr12:49052129 [GRCh38]
Chr12:49445912 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12438G>A (p.Gly4146=) |
single nucleotide variant |
KMT2D-related condition [RCV003902871]|Kabuki syndrome [RCV002540799] |
Chr12:49032267 [GRCh38]
Chr12:49426050 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3968dup (p.Gly1323_Arg1324insTer) |
duplication |
Kabuki syndrome 1 [RCV000853345] |
Chr12:49049156..49049157 [GRCh38]
Chr12:49442939..49442940 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3666C>T (p.Gly1222=) |
single nucleotide variant |
KMT2D-related condition [RCV003925954]|Kabuki syndrome [RCV002066321]|not provided [RCV000952348] |
Chr12:49049922 [GRCh38]
Chr12:49443705 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.879G>A (p.Thr293=) |
single nucleotide variant |
KMT2D-related condition [RCV003925949]|Kabuki syndrome [RCV000951992]|not provided [RCV001577211] |
Chr12:49053282 [GRCh38]
Chr12:49447065 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12944A>G (p.Gln4315Arg) |
single nucleotide variant |
Kabuki syndrome [RCV000908650]|not provided [RCV001675971] |
Chr12:49031761 [GRCh38]
Chr12:49425544 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003920690]|Kabuki syndrome 1 [RCV000988833]|Kabuki syndrome [RCV001433620]|not provided [RCV000887516] |
Chr12:49032220 [GRCh38]
Chr12:49426003 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5241A>G (p.Glu1747=) |
single nucleotide variant |
KMT2D-related condition [RCV003913089]|Kabuki syndrome [RCV003588693] |
Chr12:49043946 [GRCh38]
Chr12:49437729 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2202C>T (p.Leu734=) |
single nucleotide variant |
not provided [RCV000920075] |
Chr12:49051481 [GRCh38]
Chr12:49445264 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3606C>T (p.Ser1202=) |
single nucleotide variant |
Kabuki syndrome [RCV000901619]|not provided [RCV001655644] |
Chr12:49049982 [GRCh38]
Chr12:49443765 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7953A>C (p.Gly2651=) |
single nucleotide variant |
Kabuki syndrome [RCV002540791] |
Chr12:49039817 [GRCh38]
Chr12:49433600 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4542C>T (p.Tyr1514=) |
single nucleotide variant |
KMT2D-related condition [RCV003895771]|Kabuki syndrome [RCV000953984] |
Chr12:49046301 [GRCh38]
Chr12:49440084 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1101G>A (p.Pro367=) |
single nucleotide variant |
not provided [RCV000895608] |
Chr12:49052926 [GRCh38]
Chr12:49446709 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15528C>T (p.His5176=) |
single nucleotide variant |
Kabuki syndrome [RCV000937446] |
Chr12:49026438 [GRCh38]
Chr12:49420221 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7029G>A (p.Pro2343=) |
single nucleotide variant |
Kabuki syndrome [RCV002066091] |
Chr12:49040741 [GRCh38]
Chr12:49434524 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10926G>A (p.Gln3642=) |
single nucleotide variant |
not provided [RCV000930034] |
Chr12:49033779 [GRCh38]
Chr12:49427562 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1517C>T (p.Pro506Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002065463] |
Chr12:49052166 [GRCh38]
Chr12:49445949 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2601C>T (p.Pro867=) |
single nucleotide variant |
not provided [RCV000886420] |
Chr12:49051082 [GRCh38]
Chr12:49444865 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10083T>C (p.His3361=) |
single nucleotide variant |
Kabuki syndrome [RCV002068675] |
Chr12:49037273 [GRCh38]
Chr12:49431056 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.984G>A (p.Ala328=) |
single nucleotide variant |
KMT2D-related condition [RCV003895391]|Kabuki syndrome [RCV002064897]|not provided [RCV000877950] |
Chr12:49053043 [GRCh38]
Chr12:49446826 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10824A>G (p.Gln3608=) |
single nucleotide variant |
KMT2D-related condition [RCV003970719]|Kabuki syndrome [RCV001412144]|not provided [RCV000951372]|not specified [RCV001818970] |
Chr12:49033881 [GRCh38]
Chr12:49427664 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7479G>C (p.Gly2493=) |
single nucleotide variant |
not provided [RCV000894489] |
Chr12:49040291 [GRCh38]
Chr12:49434074 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10206G>C (p.Leu3402=) |
single nucleotide variant |
KMT2D-related condition [RCV003915793]|Kabuki syndrome [RCV002066303]|not provided [RCV000952009] |
Chr12:49037150 [GRCh38]
Chr12:49430933 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003968095]|Kabuki syndrome 1 [RCV002487947]|not provided [RCV000889080] |
Chr12:49039515 [GRCh38]
Chr12:49433298 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) |
single nucleotide variant |
KMT2D-related condition [RCV003957916]|Kabuki syndrome 1 [RCV002487948]|not provided [RCV000889081] |
Chr12:49039516 [GRCh38]
Chr12:49433299 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys) |
single nucleotide variant |
Kabuki syndrome [RCV001858749]|not provided [RCV000992309] |
Chr12:49028111 [GRCh38]
Chr12:49421894 [GRCh37]
Chr12:12q13.12 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.13225G>T (p.Glu4409Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001243135] |
Chr12:49031480 [GRCh38]
Chr12:49425263 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8386C>T (p.Gln2796Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001227532] |
Chr12:49038970 [GRCh38]
Chr12:49432753 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5549G>A (p.Gly1850Asp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001170045]|Kabuki syndrome [RCV002559630] |
Chr12:49043171 [GRCh38]
Chr12:49436954 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7367G>A (p.Arg2456His) |
single nucleotide variant |
Kabuki syndrome [RCV001065516]|not provided [RCV001585971] |
Chr12:49040403 [GRCh38]
Chr12:49434186 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4903C>T (p.Leu1635Phe) |
single nucleotide variant |
KMT2D-related condition [RCV003898049]|Kabuki syndrome [RCV001044120] |
Chr12:49044804 [GRCh38]
Chr12:49438587 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6297_6300dup (p.Ala2101fs) |
microsatellite |
Kabuki syndrome [RCV001045042] |
Chr12:49041469..49041470 [GRCh38]
Chr12:49435252..49435253 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14057A>C (p.Asn4686Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002554883]|Kabuki syndrome 1 [RCV001095777]|Kabuki syndrome [RCV003769039]|not provided [RCV001759864] |
Chr12:49029419 [GRCh38]
Chr12:49423202 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.525_535del (p.Cys175fs) |
deletion |
Kabuki syndrome [RCV001220871] |
Chr12:49054116..49054126 [GRCh38]
Chr12:49447899..49447909 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5375T>C (p.Val1792Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001862681]|not provided [RCV001090722] |
Chr12:49043727 [GRCh38]
Chr12:49437510 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7157G>A (p.Arg2386Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001069957] |
Chr12:49040613 [GRCh38]
Chr12:49434396 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.760del (p.Ala254fs) |
deletion |
Kabuki syndrome [RCV001224986] |
Chr12:49053555 [GRCh38]
Chr12:49447338 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003405377]|Kabuki syndrome 1 [RCV001197423]|Kabuki syndrome [RCV001863113] |
Chr12:49051771 [GRCh38]
Chr12:49445554 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.250C>T (p.Arg84Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001034441] |
Chr12:49054678 [GRCh38]
Chr12:49448461 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6819C>T (p.Leu2273=) |
single nucleotide variant |
Kabuki syndrome [RCV001506711] |
Chr12:49040951 [GRCh38]
Chr12:49434734 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16194C>T (p.Asn5398=) |
single nucleotide variant |
KMT2D-related condition [RCV003957921]|Kabuki syndrome [RCV002065551] |
Chr12:49022734 [GRCh38]
Chr12:49416517 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9165T>C (p.Pro3055=) |
single nucleotide variant |
KMT2D-related condition [RCV003932986]|Kabuki syndrome [RCV000911574] |
Chr12:49038191 [GRCh38]
Chr12:49431974 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4503T>C (p.Cys1501=) |
single nucleotide variant |
Kabuki syndrome [RCV002542129] |
Chr12:49046340 [GRCh38]
Chr12:49440123 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8331A>G (p.Pro2777=) |
single nucleotide variant |
not provided [RCV000890141] |
Chr12:49039257 [GRCh38]
Chr12:49433040 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15279C>T (p.Ser5093=) |
single nucleotide variant |
Kabuki syndrome [RCV003588699]|not provided [RCV000934289] |
Chr12:49026687 [GRCh38]
Chr12:49420470 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7012G>A (p.Val2338Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003983307]|Kabuki syndrome [RCV002066354] |
Chr12:49040758 [GRCh38]
Chr12:49434541 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14000-7C>T |
single nucleotide variant |
Kabuki syndrome [RCV003588700] |
Chr12:49029483 [GRCh38]
Chr12:49423266 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12252T>C (p.Pro4084=) |
single nucleotide variant |
KMT2D-related condition [RCV003900806]|Kabuki syndrome [RCV003753182]|not provided [RCV001569559] |
Chr12:49032453 [GRCh38]
Chr12:49426236 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4131+172A>G |
single nucleotide variant |
not provided [RCV001562239] |
Chr12:49048487 [GRCh38]
Chr12:49442270 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3907G>T (p.Gly1303Cys) |
single nucleotide variant |
not provided [RCV001562570] |
Chr12:49049218 [GRCh38]
Chr12:49443001 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14923del (p.Arg4975fs) |
deletion |
Kabuki syndrome 1 [RCV001730139] |
Chr12:49027043 [GRCh38]
Chr12:49420826 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11605T>A (p.Ser3869Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002470567] |
Chr12:49033100 [GRCh38]
Chr12:49426883 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15785-320_15785-309del |
deletion |
not provided [RCV001562626] |
Chr12:49025255..49025266 [GRCh38]
Chr12:49419038..49419049 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14747C>T (p.Pro4916Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002073970]|not provided [RCV001732512] |
Chr12:49027219 [GRCh38]
Chr12:49421002 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.437C>A (p.Ser146Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002470573] |
Chr12:49054380 [GRCh38]
Chr12:49448163 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3232G>A (p.Val1078Ile) |
single nucleotide variant |
not provided [RCV002464932] |
Chr12:49050356 [GRCh38]
Chr12:49444139 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14873C>T (p.Ser4958Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003588842]|not provided [RCV002467010] |
Chr12:49027093 [GRCh38]
Chr12:49420876 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2104C>T (p.Pro702Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002568502]|not provided [RCV001577940] |
Chr12:49051579 [GRCh38]
Chr12:49445362 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001865987]|not provided [RCV001563469] |
Chr12:49052220 [GRCh38]
Chr12:49446003 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.16522-63C>T |
single nucleotide variant |
not provided [RCV001570676] |
Chr12:49021935 [GRCh38]
Chr12:49415718 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9791A>G (p.Gln3264Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002470201] |
Chr12:49037565 [GRCh38]
Chr12:49431348 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11325C>T (p.Gly3775=) |
single nucleotide variant |
Kabuki syndrome [RCV002570720]|not provided [RCV001558729] |
Chr12:49033380 [GRCh38]
Chr12:49427163 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3487G>A (p.Val1163Met) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001563668] |
Chr12:49050101 [GRCh38]
Chr12:49443884 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7926C>T (p.Val2642=) |
single nucleotide variant |
KMT2D-related condition [RCV003966235]|Kabuki syndrome [RCV002072330]|not provided [RCV001593788] |
Chr12:49039844 [GRCh38]
Chr12:49433627 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7570A>G (p.Thr2524Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002032633]|not provided [RCV001559403] |
Chr12:49040200 [GRCh38]
Chr12:49433983 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1911_1937del (p.Glu641_Glu649del) |
deletion |
Kabuki syndrome [RCV003588754]|not provided [RCV001665465] |
Chr12:49051746..49051772 [GRCh38]
Chr12:49445529..49445555 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2977C>T (p.Pro993Ser) |
single nucleotide variant |
See cases [RCV002252642] |
Chr12:49050611 [GRCh38]
Chr12:49444394 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9445T>C (p.Ser3149Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003753219]|See cases [RCV002252932] |
Chr12:49037911 [GRCh38]
Chr12:49431694 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7503G>A (p.Gly2501=) |
single nucleotide variant |
Kabuki syndrome [RCV002072326]|not provided [RCV001586814] |
Chr12:49040267 [GRCh38]
Chr12:49434050 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4693+39A>T |
single nucleotide variant |
not provided [RCV001596148] |
Chr12:49046026 [GRCh38]
Chr12:49439809 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15784+275C>A |
single nucleotide variant |
not provided [RCV001568486] |
Chr12:49025907 [GRCh38]
Chr12:49419690 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1100C>T (p.Pro367Leu) |
single nucleotide variant |
not provided [RCV001553388] |
Chr12:49052927 [GRCh38]
Chr12:49446710 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3134C>T (p.Pro1045Leu) |
single nucleotide variant |
not provided [RCV001553475] |
Chr12:49050454 [GRCh38]
Chr12:49444237 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4237-257A>G |
single nucleotide variant |
not provided [RCV001565560] |
Chr12:49047047 [GRCh38]
Chr12:49440830 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10433G>A (p.Ser3478Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002073350]|not provided [RCV001717972] |
Chr12:49034589 [GRCh38]
Chr12:49428372 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4644dup (p.Glu1549Ter) |
duplication |
Lung cancer [RCV002465276] |
Chr12:49046113..49046114 [GRCh38]
Chr12:49439896..49439897 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003948608]|Kabuki syndrome 1 [RCV002072186]|Kabuki syndrome [RCV002072187]|not provided [RCV001568727] |
Chr12:49043902 [GRCh38]
Chr12:49437685 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5821A>G (p.Met1941Val) |
single nucleotide variant |
Kabuki syndrome [RCV002072074]|not provided [RCV001555441]|not specified [RCV001821879] |
Chr12:49042607 [GRCh38]
Chr12:49436390 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_003482.4(KMT2D):c.12686G>A (p.Arg4229Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002538554]|KMT2D-related condition [RCV003900838]|Kabuki syndrome [RCV002538553]|not provided [RCV001659065] |
Chr12:49032019 [GRCh38]
Chr12:49425802 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13881C>G (p.Pro4627=) |
single nucleotide variant |
not provided [RCV001569080] |
Chr12:49030398 [GRCh38]
Chr12:49424181 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14795C>T (p.Pro4932Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002471371] |
Chr12:49027171 [GRCh38]
Chr12:49420954 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002568407]|not provided [RCV001561199]|not specified [RCV001821889] |
Chr12:49026298 [GRCh38]
Chr12:49420081 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6109+1G>C |
single nucleotide variant |
not provided [RCV001574397] |
Chr12:49042088 [GRCh38]
Chr12:49435871 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1047T>A (p.Cys349Ter) |
single nucleotide variant |
not provided [RCV002467102] |
Chr12:49052980 [GRCh38]
Chr12:49446763 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6002G>A (p.Arg2001Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002471448] |
Chr12:49042196 [GRCh38]
Chr12:49435979 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1248del (p.Lys417fs) |
deletion |
Kabuki syndrome 1 [RCV002470413] |
Chr12:49052574 [GRCh38]
Chr12:49446357 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7814A>G (p.Tyr2605Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002471374]|Kabuki syndrome [RCV002571452] |
Chr12:49039956 [GRCh38]
Chr12:49433739 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1616del (p.Pro539fs) |
deletion |
not provided [RCV001009186] |
Chr12:49052067 [GRCh38]
Chr12:49445850 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8826del (p.Asn2943fs) |
deletion |
not provided [RCV001008224] |
Chr12:49038530 [GRCh38]
Chr12:49432313 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12944_12945del (p.Gln4315fs) |
deletion |
not provided [RCV001008456] |
Chr12:49031760..49031761 [GRCh38]
Chr12:49425543..49425544 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6225G>A (p.Lys2075=) |
single nucleotide variant |
not provided [RCV001531784] |
Chr12:49041664 [GRCh38]
Chr12:49435447 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4742-315C>T |
single nucleotide variant |
not provided [RCV001687024] |
Chr12:49045280 [GRCh38]
Chr12:49439063 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15784+95A>G |
single nucleotide variant |
not provided [RCV001687426] |
Chr12:49026087 [GRCh38]
Chr12:49419870 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8047-35A>G |
single nucleotide variant |
not provided [RCV001720929] |
Chr12:49039652 [GRCh38]
Chr12:49433435 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13331G>C (p.Gly4444Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753186]|not provided [RCV001592638] |
Chr12:49031374 [GRCh38]
Chr12:49425157 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5084-7C>T |
single nucleotide variant |
KMT2D-related condition [RCV003983966]|Kabuki syndrome [RCV002071943]|not provided [RCV001538903] |
Chr12:49044311 [GRCh38]
Chr12:49438094 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13433G>A (p.Arg4478Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003298944]|KMT2D-related condition [RCV003426181]|Kabuki syndrome [RCV001866219]|not provided [RCV001593944] |
Chr12:49031272 [GRCh38]
Chr12:49425055 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4741+259_4741+260dup |
duplication |
not provided [RCV001654745] |
Chr12:49045643..49045644 [GRCh38]
Chr12:49439426..49439427 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14251+49C>T |
single nucleotide variant |
not provided [RCV001654757] |
Chr12:49029012 [GRCh38]
Chr12:49422795 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4020+75A>G |
single nucleotide variant |
not provided [RCV001638857]|not specified [RCV003487558] |
Chr12:49049030 [GRCh38]
Chr12:49442813 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14382+20C>T |
single nucleotide variant |
Kabuki syndrome [RCV002073173]|not provided [RCV001675351] |
Chr12:49028808 [GRCh38]
Chr12:49422591 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3906+21G>A |
single nucleotide variant |
not provided [RCV001716978] |
Chr12:49049661 [GRCh38]
Chr12:49443444 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11856A>G (p.Gln3952=) |
single nucleotide variant |
not provided [RCV001653066] |
Chr12:49032849 [GRCh38]
Chr12:49426632 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11127C>T (p.Leu3709=) |
single nucleotide variant |
Kabuki syndrome [RCV002073053]|not provided [RCV001653141] |
Chr12:49033578 [GRCh38]
Chr12:49427361 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.511-28C>A |
single nucleotide variant |
not provided [RCV001662889] |
Chr12:49054168 [GRCh38]
Chr12:49447951 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16053-286A>G |
single nucleotide variant |
not provided [RCV001688293] |
Chr12:49023161 [GRCh38]
Chr12:49416944 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14644-74C>G |
single nucleotide variant |
not provided [RCV001649212]|not specified [RCV003487595] |
Chr12:49027396 [GRCh38]
Chr12:49421179 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.176+40G>A |
single nucleotide variant |
not provided [RCV001614091] |
Chr12:49054860 [GRCh38]
Chr12:49448643 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6184-39C>A |
single nucleotide variant |
not provided [RCV001619577] |
Chr12:49041744 [GRCh38]
Chr12:49435527 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10469C>T (p.Pro3490Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003968513]|Kabuki syndrome [RCV002073363]|not provided [RCV001717448] |
Chr12:49034448 [GRCh38]
Chr12:49428231 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.49+70A>G |
single nucleotide variant |
not provided [RCV001587984] |
Chr12:49055206 [GRCh38]
Chr12:49448989 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4131+35G>A |
single nucleotide variant |
not provided [RCV001673453] |
Chr12:49048624 [GRCh38]
Chr12:49442407 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13840-24A>C |
single nucleotide variant |
not provided [RCV001617448] |
Chr12:49030463 [GRCh38]
Chr12:49424246 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4419-48A>G |
single nucleotide variant |
not provided [RCV001654361] |
Chr12:49046472 [GRCh38]
Chr12:49440255 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2588G>A (p.Arg863Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003588752]|not provided [RCV001596139] |
Chr12:49051095 [GRCh38]
Chr12:49444878 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5533+29G>A |
single nucleotide variant |
not provided [RCV001687607] |
Chr12:49043334 [GRCh38]
Chr12:49437117 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14897G>A (p.Arg4966Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002579503]|not provided [RCV001596340] |
Chr12:49027069 [GRCh38]
Chr12:49420852 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4935G>A (p.Leu1645=) |
single nucleotide variant |
KMT2D-related condition [RCV003921255]|Kabuki syndrome [RCV002070467]|not provided [RCV001596365] |
Chr12:49044772 [GRCh38]
Chr12:49438555 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4162C>T (p.Arg1388Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003753190]|not provided [RCV001658922] |
Chr12:49048039 [GRCh38]
Chr12:49441822 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10440+42C>T |
single nucleotide variant |
not provided [RCV001596441] |
Chr12:49034540 [GRCh38]
Chr12:49428323 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5921C>G (p.Thr1974Arg) |
single nucleotide variant |
Intellectual disability [RCV001252034] |
Chr12:49042277 [GRCh38]
Chr12:49436060 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.538_539insA (p.Ala180fs) |
insertion |
Kabuki syndrome 1 [RCV001252039] |
Chr12:49054112..49054113 [GRCh38]
Chr12:49447895..49447896 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7499C>T (p.Ala2500Val) |
single nucleotide variant |
Kabuki syndrome [RCV001034503]|not provided [RCV001664629] |
Chr12:49040271 [GRCh38]
Chr12:49434054 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.15629A>G (p.Tyr5210Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001071132] |
Chr12:49026337 [GRCh38]
Chr12:49420120 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10640G>A (p.Arg3547His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001027791]|Kabuki syndrome 1 [RCV003224504] |
Chr12:49034167 [GRCh38]
Chr12:49427950 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12637C>T (p.His4213Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001089952] |
Chr12:49032068 [GRCh38]
Chr12:49425851 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9136G>T (p.Glu3046Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001066351] |
Chr12:49038220 [GRCh38]
Chr12:49432003 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15171G>A (p.Trp5057Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003413838]|Kabuki syndrome [RCV001047223] |
Chr12:49026795 [GRCh38]
Chr12:49420578 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) |
single nucleotide variant |
Kabuki syndrome [RCV002077162]|not provided [RCV001702317]|not specified [RCV001821958] |
Chr12:49046635 [GRCh38]
Chr12:49440418 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10356-25T>C |
single nucleotide variant |
not provided [RCV001609594] |
Chr12:49034691 [GRCh38]
Chr12:49428474 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6109+48T>C |
single nucleotide variant |
not provided [RCV001671257] |
Chr12:49042041 [GRCh38]
Chr12:49435824 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6235-32C>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV001000481] |
Chr12:49041567 [GRCh38]
Chr12:49435350 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003943317]|Kabuki syndrome 1 [RCV001000836]|Kabuki syndrome [RCV001858913]|not provided [RCV003392728] |
Chr12:49053522 [GRCh38]
Chr12:49447305 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12038G>A (p.Gly4013Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001000837] |
Chr12:49032667 [GRCh38]
Chr12:49426450 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6110-41G>A |
single nucleotide variant |
not provided [RCV001709410] |
Chr12:49042031 [GRCh38]
Chr12:49435814 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4131+131G>T |
single nucleotide variant |
not provided [RCV001693262] |
Chr12:49048528 [GRCh38]
Chr12:49442311 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.400+17G>T |
single nucleotide variant |
Kabuki syndrome [RCV002570838]|not provided [RCV001586503] |
Chr12:49054511 [GRCh38]
Chr12:49448294 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4741+259dup |
duplication |
not provided [RCV001645870] |
Chr12:49045643..49045644 [GRCh38]
Chr12:49439426..49439427 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15970del (p.His5324fs) |
deletion |
not provided [RCV001171577] |
Chr12:49024660 [GRCh38]
Chr12:49418443 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3573G>A (p.Pro1191=) |
single nucleotide variant |
KMT2D-related condition [RCV003948624]|Kabuki syndrome [RCV002573294]|not provided [RCV001586594] |
Chr12:49050015 [GRCh38]
Chr12:49443798 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001542339]|Kabuki syndrome [RCV002568946] |
Chr12:49033759 [GRCh38]
Chr12:49427542 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001591657]|Kabuki syndrome [RCV002573301] |
Chr12:49044765 [GRCh38]
Chr12:49438548 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4237-38C>T |
single nucleotide variant |
not provided [RCV001709799] |
Chr12:49046828 [GRCh38]
Chr12:49440611 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10806A>G (p.Gln3602=) |
single nucleotide variant |
Kabuki syndrome [RCV002071913]|not provided [RCV001533899] |
Chr12:49033899 [GRCh38]
Chr12:49427682 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5913C>T (p.Ser1971=) |
single nucleotide variant |
KMT2D-related condition [RCV003900784]|Kabuki syndrome [RCV002071914]|not provided [RCV001533969] |
Chr12:49042285 [GRCh38]
Chr12:49436068 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13531-49G>A |
single nucleotide variant |
not provided [RCV001609921] |
Chr12:49031082 [GRCh38]
Chr12:49424865 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11538C>T (p.Gly3846=) |
single nucleotide variant |
not provided [RCV001702188] |
Chr12:49033167 [GRCh38]
Chr12:49426950 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5642_5644+1del |
deletion |
Kabuki syndrome 1 [RCV001645001] |
Chr12:49043075..49043078 [GRCh38]
Chr12:49436858..49436861 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11320C>T (p.Gln3774Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001645009] |
Chr12:49033385 [GRCh38]
Chr12:49427168 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14000-203_14000-202del |
deletion |
not provided [RCV001669401] |
Chr12:49029678..49029679 [GRCh38]
Chr12:49423461..49423462 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7182C>A (p.Ser2394Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001714248] |
Chr12:49040588 [GRCh38]
Chr12:49434371 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10741-42G>A |
single nucleotide variant |
not provided [RCV001652384] |
Chr12:49034006 [GRCh38]
Chr12:49427789 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7852C>T (p.Pro2618Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001036191] |
Chr12:49039918 [GRCh38]
Chr12:49433701 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5468-1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV001645012] |
Chr12:49043429 [GRCh38]
Chr12:49437212 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4236+21G>T |
single nucleotide variant |
not provided [RCV001615717] |
Chr12:49047944 [GRCh38]
Chr12:49441727 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4981del (p.Glu1661fs) |
deletion |
Kabuki syndrome 1 [RCV001090031] |
Chr12:49044505 [GRCh38]
Chr12:49438288 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6255C>A (p.Asn2085Lys) |
single nucleotide variant |
KMT2D-related condition [RCV003416388]|Kabuki syndrome [RCV002071941]|not provided [RCV001538646] |
Chr12:49041515 [GRCh38]
Chr12:49435298 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.213C>T (p.Cys71=) |
single nucleotide variant |
Kabuki syndrome [RCV002070424]|not provided [RCV001583535] |
Chr12:49054715 [GRCh38]
Chr12:49448498 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His) |
single nucleotide variant |
KMT2D-related condition [RCV003910894]|Kabuki syndrome [RCV001866043]|not provided [RCV001572922] |
Chr12:49034445 [GRCh38]
Chr12:49428228 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001650498] |
Chr12:49029202 [GRCh38]
Chr12:49422985 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4167G>A (p.Gly1389=) |
single nucleotide variant |
Kabuki syndrome [RCV002539641]|not specified [RCV001663453] |
Chr12:49048034 [GRCh38]
Chr12:49441817 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9379C>T (p.Arg3127Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002070439]|not provided [RCV001586958] |
Chr12:49037977 [GRCh38]
Chr12:49431760 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14779A>C (p.Ser4927Arg) |
single nucleotide variant |
not provided [RCV001645343] |
Chr12:49027187 [GRCh38]
Chr12:49420970 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14766A>C (p.Ala4922=) |
single nucleotide variant |
not provided [RCV001725411] |
Chr12:49027200 [GRCh38]
Chr12:49420983 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.79A>G (p.Ser27Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001034325] |
Chr12:49054997 [GRCh38]
Chr12:49448780 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2277A>G (p.Pro759=) |
single nucleotide variant |
Kabuki syndrome [RCV003753188]|not provided [RCV001665345] |
Chr12:49051406 [GRCh38]
Chr12:49445189 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3292del (p.Met1098fs) |
deletion |
Kabuki syndrome 1 [RCV001004089] |
Chr12:49050296 [GRCh38]
Chr12:49444079 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15784+5G>C |
single nucleotide variant |
not provided [RCV001090714] |
Chr12:49026177 [GRCh38]
Chr12:49419960 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6553C>A (p.Leu2185Met) |
single nucleotide variant |
Kabuki syndrome [RCV001068759] |
Chr12:49041217 [GRCh38]
Chr12:49435000 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4379C>G (p.Pro1460Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003396812]|not provided [RCV001200082] |
Chr12:49046648 [GRCh38]
Chr12:49440431 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12335del (p.Gly4112fs) |
deletion |
Kabuki syndrome [RCV001220003] |
Chr12:49032370 [GRCh38]
Chr12:49426153 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13138C>A (p.Pro4380Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001057591] |
Chr12:49031567 [GRCh38]
Chr12:49425350 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9596G>A (p.Ser3199Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001061650] |
Chr12:49037760 [GRCh38]
Chr12:49431543 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6945C>G (p.His2315Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001215175]|not provided [RCV002285458] |
Chr12:49040825 [GRCh38]
Chr12:49434608 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5227C>T (p.Gln1743Ter) |
single nucleotide variant |
not provided [RCV001200584] |
Chr12:49043960 [GRCh38]
Chr12:49437743 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14575C>T (p.Gln4859Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001197916] |
Chr12:49027871 [GRCh38]
Chr12:49421654 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14002A>T (p.Thr4668Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001197935]|not provided [RCV003389864] |
Chr12:49029474 [GRCh38]
Chr12:49423257 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14945G>A (p.Trp4982Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001219587] |
Chr12:49027021 [GRCh38]
Chr12:49420804 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13964C>T (p.Ala4655Val) |
single nucleotide variant |
Kabuki syndrome [RCV001203355]|not provided [RCV003490117] |
Chr12:49030315 [GRCh38]
Chr12:49424098 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13320del (p.Ile4440fs) |
deletion |
Kabuki syndrome 1 [RCV001175157]|Kabuki syndrome [RCV002555441] |
Chr12:49031385 [GRCh38]
Chr12:49425168 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| GRCh37/hg19 12q13.12(chr12:49433507-49437211)x1 |
copy number loss |
not provided [RCV001092706] |
Chr12:49433507..49437211 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16445_16446del (p.Val5482fs) |
microsatellite |
Kabuki syndrome [RCV001038155] |
Chr12:49022118..49022119 [GRCh38]
Chr12:49415901..49415902 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8430dup (p.Gln2811fs) |
duplication |
Kabuki syndrome 1 [RCV001197821] |
Chr12:49038925..49038926 [GRCh38]
Chr12:49432708..49432709 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11723AGCAAC[3] (p.Gln3910_Gln3911dup) |
microsatellite |
KMT2D-related condition [RCV003953434]|Kabuki syndrome [RCV001034260] |
Chr12:49032970..49032971 [GRCh38]
Chr12:49426753..49426754 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6524A>G (p.Asp2175Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001034320] |
Chr12:49041246 [GRCh38]
Chr12:49435029 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6404T>A (p.Leu2135Ter) |
single nucleotide variant |
not provided [RCV001090720] |
Chr12:49041366 [GRCh38]
Chr12:49435149 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8521C>A (p.Pro2841Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001873447]|not provided [RCV001090719] |
Chr12:49038835 [GRCh38]
Chr12:49432618 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11524C>T (p.Gln3842Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261303]|Kabuki syndrome [RCV001211934] |
Chr12:49033181 [GRCh38]
Chr12:49426964 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11838A>C (p.Gln3946His) |
single nucleotide variant |
Intellectual disability [RCV001251819] |
Chr12:49032867 [GRCh38]
Chr12:49426650 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.538G>T (p.Ala180Ser) |
single nucleotide variant |
Intellectual disability [RCV001251822] |
Chr12:49054113 [GRCh38]
Chr12:49447896 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7228C>T (p.Arg2410Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001352916]|Kabuki syndrome [RCV001390429]|Microcephaly [RCV001252695]|not provided [RCV003147574] |
Chr12:49040542 [GRCh38]
Chr12:49434325 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8366+2T>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV001253504] |
Chr12:49039220 [GRCh38]
Chr12:49433003 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6302C>T (p.Ala2101Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001252035] |
Chr12:49041468 [GRCh38]
Chr12:49435251 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1201G>A (p.Val401Met) |
single nucleotide variant |
Microcephaly [RCV001252795] |
Chr12:49052621 [GRCh38]
Chr12:49446404 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2091dup (p.Thr698fs) |
duplication |
Kabuki syndrome 1 [RCV001254091] |
Chr12:49051591..49051592 [GRCh38]
Chr12:49445374..49445375 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12668A>G (p.Gln4223Arg) |
single nucleotide variant |
Microcephaly [RCV001252833] |
Chr12:49032037 [GRCh38]
Chr12:49425820 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.297del (p.Ser102fs) |
deletion |
Kabuki syndrome 1 [RCV001253684] |
Chr12:49054631 [GRCh38]
Chr12:49448414 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7538G>A (p.Gly2513Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001253282]|Kabuki syndrome [RCV003770315] |
Chr12:49040232 [GRCh38]
Chr12:49434015 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10379A>G (p.Gln3460Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001253542] |
Chr12:49034643 [GRCh38]
Chr12:49428426 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13650del (p.Leu4551fs) |
deletion |
Kabuki syndrome 1 [RCV001253251] |
Chr12:49030914 [GRCh38]
Chr12:49424697 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13433G>C (p.Arg4478Pro) |
single nucleotide variant |
Intellectual disability [RCV001251820] |
Chr12:49031272 [GRCh38]
Chr12:49425055 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11132C>G (p.Pro3711Arg) |
single nucleotide variant |
Intellectual disability [RCV001252036] |
Chr12:49033573 [GRCh38]
Chr12:49427356 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val) |
single nucleotide variant |
Choanal atresia [RCV002468626]|Kabuki syndrome 1 [RCV001254684] |
Chr12:49034183 [GRCh38]
Chr12:49427966 [GRCh37]
Chr12:12q13.12 |
pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.15284G>C (p.Cys5095Ser) |
single nucleotide variant |
Rare genetic intellectual disability [RCV001256977] |
Chr12:49026682 [GRCh38]
Chr12:49420465 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4168del (p.Ala1390fs) |
deletion |
Kabuki syndrome 1 [RCV001252038] |
Chr12:49048033 [GRCh38]
Chr12:49441816 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6638G>A (p.Gly2213Asp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001254693]|Kabuki syndrome [RCV001879916]|not provided [RCV003130235] |
Chr12:49041132 [GRCh38]
Chr12:49434915 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2426A>C (p.Gln809Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001253468] |
Chr12:49051257 [GRCh38]
Chr12:49445040 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8443dup (p.Gln2815fs) |
duplication |
Kabuki syndrome 1 [RCV001254090] |
Chr12:49038912..49038913 [GRCh38]
Chr12:49432695..49432696 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15110AGG[1] (p.Glu5038del) |
microsatellite |
Kabuki syndrome 1 [RCV001261206] |
Chr12:49026851..49026853 [GRCh38]
Chr12:49420634..49420636 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11851C>T (p.Gln3951Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261308] |
Chr12:49032854 [GRCh38]
Chr12:49426637 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13378del (p.His4460fs) |
deletion |
Kabuki syndrome 1 [RCV001261314] |
Chr12:49031327 [GRCh38]
Chr12:49425110 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14249del (p.Pro4750fs) |
deletion |
Kabuki syndrome 1 [RCV001261316] |
Chr12:49029063 [GRCh38]
Chr12:49422846 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2760_2782del (p.Gly921fs) |
deletion |
Kabuki syndrome 1 [RCV001261322] |
Chr12:49050901..49050923 [GRCh38]
Chr12:49444684..49444706 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13014del (p.Thr4339fs) |
deletion |
Kabuki syndrome 1 [RCV001261340] |
Chr12:49031691 [GRCh38]
Chr12:49425474 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13660C>T (p.Gln4554Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261343] |
Chr12:49030904 [GRCh38]
Chr12:49424687 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8263A>T (p.Lys2755Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261349] |
Chr12:49039325 [GRCh38]
Chr12:49433108 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001262241]|Kabuki syndrome [RCV001363670]|not provided [RCV003135900] |
Chr12:49053302 [GRCh38]
Chr12:49447085 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.6421G>A (p.Gly2141Arg) |
single nucleotide variant |
Intellectual disability [RCV001251816] |
Chr12:49041349 [GRCh38]
Chr12:49435132 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11226GCA[5] (p.Gln3745dup) |
microsatellite |
Intellectual disability [RCV001251818]|Kabuki syndrome [RCV002570468]|not provided [RCV001597260] |
Chr12:49033467..49033468 [GRCh38]
Chr12:49427250..49427251 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3761A>C (p.Glu1254Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001252037] |
Chr12:49049827 [GRCh38]
Chr12:49443610 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.778del (p.Ala259_Leu260insTer) |
deletion |
Inborn genetic diseases [RCV001265959] |
Chr12:49053537 [GRCh38]
Chr12:49447320 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12414dup (p.Val4139fs) |
duplication |
Inborn genetic diseases [RCV001266138] |
Chr12:49032290..49032291 [GRCh38]
Chr12:49426073..49426074 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1778C>T (p.Pro593Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV001266251] |
Chr12:49051905 [GRCh38]
Chr12:49445688 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14468C>T (p.Pro4823Leu) |
single nucleotide variant |
Seizure [RCV001256050] |
Chr12:49028056 [GRCh38]
Chr12:49421839 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10812_10832dup (p.Gln3606_Gln3612dup) |
duplication |
Inborn genetic diseases [RCV002543031]|Kabuki syndrome [RCV001294734]|not provided [RCV001692372] |
Chr12:49033872..49033873 [GRCh38]
Chr12:49427655..49427656 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5939C>T (p.Thr1980Met) |
single nucleotide variant |
Kabuki syndrome [RCV003753225]|not provided [RCV002280434] |
Chr12:49042259 [GRCh38]
Chr12:49436042 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12551G>T (p.Gly4184Val) |
single nucleotide variant |
Kabuki syndrome [RCV001295175] |
Chr12:49032154 [GRCh38]
Chr12:49425937 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15730A>T (p.Lys5244Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261211] |
Chr12:49026236 [GRCh38]
Chr12:49420019 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3903dup (p.Gln1302fs) |
duplication |
Kabuki syndrome 1 [RCV001261219] |
Chr12:49049684..49049685 [GRCh38]
Chr12:49443467..49443468 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6962T>G (p.Leu2321Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261268] |
Chr12:49040808 [GRCh38]
Chr12:49434591 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8366+2T>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261271]|not provided [RCV001815528] |
Chr12:49039220 [GRCh38]
Chr12:49433003 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.10357C>T (p.Gln3453Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261275] |
Chr12:49034665 [GRCh38]
Chr12:49428448 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11425del (p.Val3809fs) |
deletion |
Kabuki syndrome 1 [RCV001261277] |
Chr12:49033280 [GRCh38]
Chr12:49427063 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11977C>T (p.Gln3993Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261309] |
Chr12:49032728 [GRCh38]
Chr12:49426511 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14020_14030delinsA (p.Leu4674fs) |
indel |
Kabuki syndrome 1 [RCV001261315] |
Chr12:49029446..49029456 [GRCh38]
Chr12:49423229..49423239 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4520G>A (p.Cys1507Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261326] |
Chr12:49046323 [GRCh38]
Chr12:49440106 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12183del (p.Glu4061fs) |
deletion |
Kabuki syndrome 1 [RCV001261331] |
Chr12:49032522 [GRCh38]
Chr12:49426305 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13780del (p.Ala4594fs) |
deletion |
Kabuki syndrome 1 [RCV001261344]|not provided [RCV002511067] |
Chr12:49030660 [GRCh38]
Chr12:49424443 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14076-1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261345] |
Chr12:49029237 [GRCh38]
Chr12:49423020 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14803G>T (p.Glu4935Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261347] |
Chr12:49027163 [GRCh38]
Chr12:49420946 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13491_13495del (p.Leu4498fs) |
microsatellite |
Intellectual disability [RCV001257647] |
Chr12:49031210..49031214 [GRCh38]
Chr12:49424993..49424997 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp) |
single nucleotide variant |
Intellectual disability [RCV001255127]|KMT2D-related condition [RCV003983862]|Kabuki syndrome [RCV002570582] |
Chr12:49053226 [GRCh38]
Chr12:49447009 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10688dup (p.Leu3564fs) |
duplication |
Kabuki syndrome 1 [RCV001332274] |
Chr12:49034118..49034119 [GRCh38]
Chr12:49427901..49427902 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14075+8C>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332276]|Kabuki syndrome [RCV003753175] |
Chr12:49029393 [GRCh38]
Chr12:49423176 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12165del (p.Glu4056fs) |
deletion |
Dandy-Walker syndrome [RCV001255690] |
Chr12:49032540 [GRCh38]
Chr12:49426323 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15781C>T (p.Gln5261Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261212] |
Chr12:49026185 [GRCh38]
Chr12:49419968 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4093G>T (p.Val1365Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261261] |
Chr12:49048697 [GRCh38]
Chr12:49442480 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10740G>T (p.Gln3580His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261276] |
Chr12:49034067 [GRCh38]
Chr12:49427850 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11203C>T (p.Gln3735Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261302] |
Chr12:49033502 [GRCh38]
Chr12:49427285 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11827C>T (p.Gln3943Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261307] |
Chr12:49032878 [GRCh38]
Chr12:49426661 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11632C>T (p.Gln3878Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261310] |
Chr12:49033073 [GRCh38]
Chr12:49426856 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6354dup (p.Ala2119fs) |
duplication |
Kabuki syndrome 1 [RCV001261330] |
Chr12:49041415..49041416 [GRCh38]
Chr12:49435198..49435199 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9730G>T (p.Glu3244Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261351] |
Chr12:49037626 [GRCh38]
Chr12:49431409 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5473G>A (p.Asp1825Asn) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001262521] |
Chr12:49043423 [GRCh38]
Chr12:49437206 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13137_13139dup (p.Pro4380dup) |
duplication |
Kabuki syndrome [RCV001964086] |
Chr12:49031565..49031566 [GRCh38]
Chr12:49425348..49425349 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15349T>G (p.Cys5117Gly) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261208] |
Chr12:49026617 [GRCh38]
Chr12:49420400 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15673C>T (p.Arg5225Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261210]|Kabuki syndrome [RCV001880013]|not provided [RCV001586096] |
Chr12:49026293 [GRCh38]
Chr12:49420076 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16116dup (p.Asn5373fs) |
duplication |
Kabuki syndrome 1 [RCV001261214] |
Chr12:49022811..49022812 [GRCh38]
Chr12:49416594..49416595 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15545dup (p.Leu5183fs) |
duplication |
Kabuki syndrome 1 [RCV001261318] |
Chr12:49026420..49026421 [GRCh38]
Chr12:49420203..49420204 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12442_12455del (p.Met4148fs) |
deletion |
Kabuki syndrome 1 [RCV001261333] |
Chr12:49032250..49032263 [GRCh38]
Chr12:49426033..49426046 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1231C>T (p.Pro411Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332275] |
Chr12:49052591 [GRCh38]
Chr12:49446374 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14975del (p.Leu4992fs) |
deletion |
Kabuki syndrome 1 [RCV001261205] |
Chr12:49026991 [GRCh38]
Chr12:49420774 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6622C>T (p.Gln2208Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261267] |
Chr12:49041148 [GRCh38]
Chr12:49434931 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10694del (p.Lys3565fs) |
deletion |
Kabuki syndrome 1 [RCV001261300] |
Chr12:49034113 [GRCh38]
Chr12:49427896 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12757dup (p.Leu4253fs) |
duplication |
Kabuki syndrome 1 [RCV001261312] |
Chr12:49031947..49031948 [GRCh38]
Chr12:49425730..49425731 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13201C>T (p.Gln4401Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261313] |
Chr12:49031504 [GRCh38]
Chr12:49425287 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261317]|Kabuki syndrome [RCV003588730] |
Chr12:49026422 [GRCh38]
Chr12:49420205 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.5983G>T (p.Gly1995Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261328]|not provided [RCV003145498] |
Chr12:49042215 [GRCh38]
Chr12:49435998 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.12600_12604dup (p.Gln4202fs) |
duplication |
Kabuki syndrome 1 [RCV001261336] |
Chr12:49032100..49032101 [GRCh38]
Chr12:49425883..49425884 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12700_12701del (p.Gln4235fs) |
microsatellite |
Kabuki syndrome 1 [RCV001261337] |
Chr12:49032004..49032005 [GRCh38]
Chr12:49425787..49425788 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12955A>T (p.Arg4319Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261339] |
Chr12:49031750 [GRCh38]
Chr12:49425533 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8780C>G (p.Ser2927Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261350] |
Chr12:49038576 [GRCh38]
Chr12:49432359 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001291663] |
Chr12:49027927 [GRCh38]
Chr12:49421710 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15176A>G (p.His5059Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261207] |
Chr12:49026790 [GRCh38]
Chr12:49420573 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15920C>G (p.Ser5307Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261213] |
Chr12:49024811 [GRCh38]
Chr12:49418594 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16412+5G>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261215] |
Chr12:49022275 [GRCh38]
Chr12:49416058 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2506dup (p.Gln836fs) |
duplication |
Kabuki syndrome 1 [RCV001261217] |
Chr12:49051176..49051177 [GRCh38]
Chr12:49444959..49444960 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4741+257_6959del |
deletion |
Kabuki syndrome 1 [RCV001261264] |
Chr12:49040811..49045663 [GRCh38]
Chr12:49434594..49439446 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.751dup (p.Tyr251fs) |
duplication |
Kabuki syndrome 1 [RCV001261269] |
Chr12:49053563..49053564 [GRCh38]
Chr12:49447346..49447347 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9829C>T (p.Gln3277Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261274] |
Chr12:49037527 [GRCh38]
Chr12:49431310 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10841C>G (p.Ser3614Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261301] |
Chr12:49033864 [GRCh38]
Chr12:49427647 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11679del (p.Met3894fs) |
deletion |
Kabuki syndrome 1 [RCV001261305] |
Chr12:49033026 [GRCh38]
Chr12:49426809 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1259-14T>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261311] |
Chr12:49052438 [GRCh38]
Chr12:49446221 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.169del (p.Asp57fs) |
deletion |
Kabuki syndrome 1 [RCV001261321] |
Chr12:49054907 [GRCh38]
Chr12:49448690 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1363del (p.Glu455fs) |
deletion |
Kabuki syndrome 1 [RCV001261342] |
Chr12:49052320 [GRCh38]
Chr12:49446103 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14969T>C (p.Leu4990Pro) |
single nucleotide variant |
Intellectual disability [RCV001257679] |
Chr12:49026997 [GRCh38]
Chr12:49420780 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13293del (p.Lys4432fs) |
deletion |
Kabuki syndrome 1 [RCV001261526] |
Chr12:49031412 [GRCh38]
Chr12:49425195 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7883T>C (p.Leu2628Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001262134] |
Chr12:49039887 [GRCh38]
Chr12:49433670 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6625C>T (p.Pro2209Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001262310] |
Chr12:49041145 [GRCh38]
Chr12:49434928 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16214G>A (p.Arg5405His) |
single nucleotide variant |
Inborn genetic diseases [RCV003246980]|KMT2D-related condition [RCV003399338]|Kabuki syndrome [RCV002568246]|not provided [RCV001538979] |
Chr12:49022714 [GRCh38]
Chr12:49416497 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6040C>T (p.Gln2014Ter) |
single nucleotide variant |
Rubinstein Taybi like syndrome [RCV001261778] |
Chr12:49042158 [GRCh38]
Chr12:49435941 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001262541]|Kabuki syndrome [RCV002069378] |
Chr12:49039759 [GRCh38]
Chr12:49433542 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 |
copy number gain |
not provided [RCV001259140] |
Chr12:49024019..50299974 [GRCh37]
Chr12:12q13.11-13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16442G>A (p.Cys5481Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV001880162]|not provided [RCV001268118] |
Chr12:49022122 [GRCh38]
Chr12:49415905 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.14000del (p.Asp4667fs) |
deletion |
not provided [RCV001268149] |
Chr12:49029476 [GRCh38]
Chr12:49423259 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2877C>G (p.Tyr959Ter) |
single nucleotide variant |
not provided [RCV001268516] |
Chr12:49050711 [GRCh38]
Chr12:49444494 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5275C>T (p.Arg1759Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001888964] |
Chr12:49043912 [GRCh38]
Chr12:49437695 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10416C>G (p.Asn3472Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002561537]|Kabuki syndrome [RCV002001975] |
Chr12:49034606 [GRCh38]
Chr12:49428389 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001262013] |
Chr12:49024641 [GRCh38]
Chr12:49418424 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5775del (p.Leu1926fs) |
deletion |
Inborn genetic diseases [RCV001267550] |
Chr12:49042748 [GRCh38]
Chr12:49436531 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15275G>T (p.Cys5092Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001265549] |
Chr12:49026691 [GRCh38]
Chr12:49420474 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1967del (p.Leu656fs) |
deletion |
Inborn genetic diseases [RCV001267422]|Kabuki syndrome 1 [RCV001269291] |
Chr12:49051716 [GRCh38]
Chr12:49445499 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.15791G>T (p.Trp5264Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV001267500] |
Chr12:49024940 [GRCh38]
Chr12:49418723 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12323T>C (p.Leu4108Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003405491]|Kabuki syndrome [RCV001871619]|not provided [RCV001280782] |
Chr12:49032382 [GRCh38]
Chr12:49426165 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs) |
duplication |
Inborn genetic diseases [RCV001266900]|Kabuki syndrome 1 [RCV003148961] |
Chr12:49037564..49037565 [GRCh38]
Chr12:49431347..49431348 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2425dup (p.Gln809fs) |
duplication |
Kabuki syndrome 1 [RCV001263248] |
Chr12:49051257..49051258 [GRCh38]
Chr12:49445040..49445041 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.543dup (p.Ile182fs) |
duplication |
Kabuki syndrome 1 [RCV001263444] |
Chr12:49054107..49054108 [GRCh38]
Chr12:49447890..49447891 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.15536G>T (p.Arg5179Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261209] |
Chr12:49026430 [GRCh38]
Chr12:49420213 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.3540del (p.Pro1181fs) |
deletion |
Kabuki syndrome 1 [RCV001261218] |
Chr12:49050048 [GRCh38]
Chr12:49443831 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.400+2T>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261260] |
Chr12:49054526 [GRCh38]
Chr12:49448309 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4171G>A (p.Glu1391Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261262] |
Chr12:49048030 [GRCh38]
Chr12:49441813 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4359C>A (p.His1453Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261263] |
Chr12:49046668 [GRCh38]
Chr12:49440451 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9022G>T (p.Glu3008Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261272] |
Chr12:49038334 [GRCh38]
Chr12:49432117 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11597dup (p.Gln3867fs) |
duplication |
Kabuki syndrome 1 [RCV001261304] |
Chr12:49033107..49033108 [GRCh38]
Chr12:49426890..49426891 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11770dup (p.Gln3924fs) |
duplication |
Kabuki syndrome 1 [RCV001261306] |
Chr12:49032934..49032935 [GRCh38]
Chr12:49426717..49426718 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.296del (p.Pro99fs) |
deletion |
Kabuki syndrome 1 [RCV001261323] |
Chr12:49054632 [GRCh38]
Chr12:49448415 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5867+5G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261327] |
Chr12:49042556 [GRCh38]
Chr12:49436339 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6183G>A (p.Leu2061=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261329] |
Chr12:49041917 [GRCh38]
Chr12:49435700 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12301C>T (p.Gln4101Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261332] |
Chr12:49032404 [GRCh38]
Chr12:49426187 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1257del (p.Ala422fs) |
deletion |
Kabuki syndrome 1 [RCV001261334] |
Chr12:49052565 [GRCh38]
Chr12:49446348 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14515+1del |
deletion |
Kabuki syndrome 1 [RCV001261346] |
Chr12:49028008 [GRCh38]
Chr12:49421791 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14873C>G (p.Ser4958Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261348] |
Chr12:49027093 [GRCh38]
Chr12:49420876 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.3906+2T>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261259] |
Chr12:49049680 [GRCh38]
Chr12:49443463 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5764C>T (p.Gln1922Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261265] |
Chr12:49042759 [GRCh38]
Chr12:49436542 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9145C>G (p.Leu3049Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261273] |
Chr12:49038211 [GRCh38]
Chr12:49431994 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12598C>T (p.Gln4200Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261335] |
Chr12:49032107 [GRCh38]
Chr12:49425890 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12943C>T (p.Gln4315Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001261338] |
Chr12:49031762 [GRCh38]
Chr12:49425545 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13297dup (p.Arg4433fs) |
duplication |
Kabuki syndrome 1 [RCV001261341] |
Chr12:49031407..49031408 [GRCh38]
Chr12:49425190..49425191 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9014_9015del (p.Asp3005fs) |
deletion |
Kabuki syndrome 1 [RCV001261353] |
Chr12:49038341..49038342 [GRCh38]
Chr12:49432124..49432125 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4128_4129delinsAA (p.Met1376_Gln1377delinsIleLys) |
indel |
Intellectual disability [RCV001257680] |
Chr12:49048661..49048662 [GRCh38]
Chr12:49442444..49442445 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4583+31C>G |
single nucleotide variant |
not provided [RCV001565026] |
Chr12:49046229 [GRCh38]
Chr12:49440012 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1542A>G (p.Pro514=) |
single nucleotide variant |
not provided [RCV001581071] |
Chr12:49052141 [GRCh38]
Chr12:49445924 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8767G>T (p.Gly2923Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001329084]|not provided [RCV003132421] |
Chr12:49038589 [GRCh38]
Chr12:49432372 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12977C>G (p.Pro4326Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001301555]|not provided [RCV002473259] |
Chr12:49031728 [GRCh38]
Chr12:49425511 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3844G>T (p.Gly1282Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001372491]|not provided [RCV001280723] |
Chr12:49049744 [GRCh38]
Chr12:49443527 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001280991]|Kabuki syndrome 1 [RCV003224545]|Kabuki syndrome [RCV002537909] |
Chr12:49043679 [GRCh38]
Chr12:49437462 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.204_205del (p.Leu68_Cys69insTer) |
microsatellite |
Kabuki syndrome 1 [RCV001336044] |
Chr12:49054723..49054724 [GRCh38]
Chr12:49448506..49448507 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5084-17A>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336047]|Kabuki syndrome [RCV002547347] |
Chr12:49044321 [GRCh38]
Chr12:49438104 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8367-3C>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV001329083] |
Chr12:49038992 [GRCh38]
Chr12:49432775 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) |
single nucleotide variant |
KMT2D-related condition [RCV003973177]|Kabuki syndrome 1 [RCV001280990]|Kabuki syndrome 1 [RCV003224544]|Kabuki syndrome [RCV001871625] |
Chr12:49041330 [GRCh38]
Chr12:49435113 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9302C>T (p.Pro3101Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002537919]|Seizure [RCV001281563] |
Chr12:49038054 [GRCh38]
Chr12:49431837 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.91T>C (p.Ser31Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003399121]|Kabuki syndrome 1 [RCV001336574] |
Chr12:49054985 [GRCh38]
Chr12:49448768 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10909C>T (p.Pro3637Ser) |
single nucleotide variant |
Congenital anomaly of kidney and urinary tract [RCV001328150] |
Chr12:49033796 [GRCh38]
Chr12:49427579 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13627G>T (p.Asp4543Tyr) |
single nucleotide variant |
KMT2D-related condition [RCV003405507]|Kabuki syndrome [RCV001294276]|not provided [RCV003389865] |
Chr12:49030937 [GRCh38]
Chr12:49424720 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14826dup (p.Glu4943Ter) |
duplication |
Kabuki syndrome 1 [RCV001310075] |
Chr12:49027139..49027140 [GRCh38]
Chr12:49420922..49420923 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11829GCA[4] (p.Gln3947dup) |
microsatellite |
not provided [RCV001310643] |
Chr12:49032867..49032868 [GRCh38]
Chr12:49426650..49426651 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4843C>T (p.Arg1615Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002543557]|not provided [RCV001310647] |
Chr12:49044864 [GRCh38]
Chr12:49438647 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15871G>A (p.Glu5291Lys) |
single nucleotide variant |
Kabuki syndrome [RCV001297074] |
Chr12:49024860 [GRCh38]
Chr12:49418643 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15004C>T (p.Arg5002Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001341365] |
Chr12:49026962 [GRCh38]
Chr12:49420745 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11949T>G (p.Thr3983=) |
single nucleotide variant |
KMT2D-related condition [RCV003898298]|Kabuki syndrome [RCV002071869]|not provided [RCV001311817] |
Chr12:49032756 [GRCh38]
Chr12:49426539 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.181G>A (p.Gly61Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003898318]|Kabuki syndrome 1 [RCV001336043]|Kabuki syndrome [RCV003120561] |
Chr12:49054747 [GRCh38]
Chr12:49448530 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7613dup (p.Gln2540fs) |
duplication |
Kabuki syndrome 1 [RCV001269294] |
Chr12:49040156..49040157 [GRCh38]
Chr12:49433939..49433940 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7193T>C (p.Leu2398Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001270731]|Kabuki syndrome [RCV002537739]|not provided [RCV001773582] |
Chr12:49040577 [GRCh38]
Chr12:49434360 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8765G>C (p.Arg2922Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336572] |
Chr12:49038591 [GRCh38]
Chr12:49432374 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12039_12046del (p.Ala4014fs) |
microsatellite |
Kabuki syndrome 1 [RCV001353094] |
Chr12:49032659..49032666 [GRCh38]
Chr12:49426442..49426449 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2305_2331del (p.His769_Pro777del) |
deletion |
Kabuki syndrome [RCV001422398] |
Chr12:49051352..49051378 [GRCh38]
Chr12:49445135..49445161 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14650C>T (p.Pro4884Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001360073] |
Chr12:49027316 [GRCh38]
Chr12:49421099 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10281C>G (p.Ala3427=) |
single nucleotide variant |
Kabuki syndrome [RCV001421788] |
Chr12:49034886 [GRCh38]
Chr12:49428669 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10346G>T (p.Gly3449Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332273] |
Chr12:49034821 [GRCh38]
Chr12:49428604 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8096C>G (p.Thr2699Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001371116] |
Chr12:49039568 [GRCh38]
Chr12:49433351 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2135A>G (p.Glu712Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001360356] |
Chr12:49051548 [GRCh38]
Chr12:49445331 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5570C>A (p.Pro1857His) |
single nucleotide variant |
not provided [RCV001310646] |
Chr12:49043150 [GRCh38]
Chr12:49436933 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3607G>A (p.Asp1203Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001361969] |
Chr12:49049981 [GRCh38]
Chr12:49443764 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10423G>A (p.Ala3475Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003416331]|Kabuki syndrome 1 [RCV002495571]|Kabuki syndrome [RCV001422869]|not provided [RCV001788475] |
Chr12:49034599 [GRCh38]
Chr12:49428382 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3318del (p.Ser1107fs) |
deletion |
Kabuki syndrome [RCV001383275] |
Chr12:49050270 [GRCh38]
Chr12:49444053 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9318C>T (p.Ala3106=) |
single nucleotide variant |
Kabuki syndrome [RCV002545036]|not provided [RCV001310645] |
Chr12:49038038 [GRCh38]
Chr12:49431821 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7591C>T (p.Pro2531Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001294510] |
Chr12:49040179 [GRCh38]
Chr12:49433962 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3193T>A (p.Ser1065Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001319868] |
Chr12:49050395 [GRCh38]
Chr12:49444178 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6748C>T (p.Pro2250Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001343397] |
Chr12:49041022 [GRCh38]
Chr12:49434805 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332272]|Kabuki syndrome [RCV002546543] |
Chr12:49037329 [GRCh38]
Chr12:49431112 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14905G>A (p.Glu4969Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001332277]|Kabuki syndrome [RCV002546544] |
Chr12:49027061 [GRCh38]
Chr12:49420844 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.572G>A (p.Arg191Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001345712] |
Chr12:49054079 [GRCh38]
Chr12:49447862 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11450C>A (p.Ala3817Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001362770] |
Chr12:49033255 [GRCh38]
Chr12:49427038 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15223G>A (p.Gly5075Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001316504] |
Chr12:49026743 [GRCh38]
Chr12:49420526 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13975C>T (p.Arg4659Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001305537] |
Chr12:49030304 [GRCh38]
Chr12:49424087 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001863152]|not provided [RCV001289095] |
Chr12:49037857 [GRCh38]
Chr12:49431640 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336573]|Kabuki syndrome [RCV002546785] |
Chr12:49038228 [GRCh38]
Chr12:49432011 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001270729]|Kabuki syndrome 1 [RCV003224539]|Kabuki syndrome [RCV001880218]|not provided [RCV001550716] |
Chr12:49034212 [GRCh38]
Chr12:49427995 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.1358C>T (p.Pro453Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001371920] |
Chr12:49052325 [GRCh38]
Chr12:49446108 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5868-3C>T |
single nucleotide variant |
Kabuki syndrome [RCV001370448] |
Chr12:49042333 [GRCh38]
Chr12:49436116 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10858dup (p.Ser3620fs) |
duplication |
not provided [RCV001269558] |
Chr12:49033846..49033847 [GRCh38]
Chr12:49427629..49427630 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15878T>C (p.Leu5293Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001320427] |
Chr12:49024853 [GRCh38]
Chr12:49418636 [GRCh37]
Chr12:12q13.12 |
pathogenic|uncertain significance |
| GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 |
copy number gain |
See cases [RCV001353185] |
Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12815G>A (p.Gly4272Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001338863] |
Chr12:49031890 [GRCh38]
Chr12:49425673 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8419T>C (p.Ser2807Pro) |
single nucleotide variant |
not provided [RCV002284789] |
Chr12:49038937 [GRCh38]
Chr12:49432720 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15132T>C (p.Asp5044=) |
single nucleotide variant |
Kabuki syndrome [RCV002545043]|not provided [RCV001311816] |
Chr12:49026834 [GRCh38]
Chr12:49420617 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12868C>G (p.Pro4290Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001341131] |
Chr12:49031837 [GRCh38]
Chr12:49425620 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001329082]|Kabuki syndrome [RCV002546304] |
Chr12:49039343 [GRCh38]
Chr12:49433126 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6442G>A (p.Gly2148Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002539497]|Kabuki syndrome [RCV001302294] |
Chr12:49041328 [GRCh38]
Chr12:49435111 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001291677] |
Chr12:49052262 [GRCh38]
Chr12:49446045 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5759C>T (p.Pro1920Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001308937] |
Chr12:49042764 [GRCh38]
Chr12:49436547 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10812_10832del (p.Gln3606_Gln3612del) |
deletion |
Kabuki syndrome [RCV001323448] |
Chr12:49033873..49033893 [GRCh38]
Chr12:49427656..49427676 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2585C>A (p.Pro862His) |
single nucleotide variant |
Kabuki syndrome [RCV001337242] |
Chr12:49051098 [GRCh38]
Chr12:49444881 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6110-2A>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV001329080] |
Chr12:49041992 [GRCh38]
Chr12:49435775 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11770C>G (p.Gln3924Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001314238] |
Chr12:49032935 [GRCh38]
Chr12:49426718 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) |
single nucleotide variant |
KMT2D-related condition [RCV003399131]|Kabuki syndrome 1 [RCV001843586]|Kabuki syndrome [RCV001343260]|not provided [RCV001587362] |
Chr12:49032476 [GRCh38]
Chr12:49426259 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12911C>T (p.Pro4304Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003399171]|Kabuki syndrome [RCV001364443] |
Chr12:49031794 [GRCh38]
Chr12:49425577 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13703C>T (p.Ala4568Val) |
single nucleotide variant |
Kabuki syndrome [RCV001341695] |
Chr12:49030737 [GRCh38]
Chr12:49424520 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336041]|Kabuki syndrome [RCV001871881]|not provided [RCV001534524] |
Chr12:49031242 [GRCh38]
Chr12:49425025 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13839+3C>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336042]|Kabuki syndrome [RCV002546756] |
Chr12:49030598 [GRCh38]
Chr12:49424381 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336045]|not provided [RCV003227026] |
Chr12:49051153 [GRCh38]
Chr12:49444936 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3706G>T (p.Gly1236Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336046]|not provided [RCV001760439] |
Chr12:49049882 [GRCh38]
Chr12:49443665 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7938del (p.Asp2647fs) |
deletion |
Kabuki syndrome 1 [RCV001336050] |
Chr12:49039832 [GRCh38]
Chr12:49433615 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7378del (p.Arg2460fs) |
deletion |
Kabuki syndrome 1 [RCV001336048] |
Chr12:49040392 [GRCh38]
Chr12:49434175 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002546757]|Kabuki syndrome 1 [RCV001336049]|Kabuki syndrome [RCV001865842] |
Chr12:49040307 [GRCh38]
Chr12:49434090 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13454C>T (p.Ala4485Val) |
single nucleotide variant |
Kabuki syndrome [RCV001350846] |
Chr12:49031251 [GRCh38]
Chr12:49425034 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.592G>A (p.Ala198Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001370301] |
Chr12:49054059 [GRCh38]
Chr12:49447842 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8241C>A (p.Ser2747Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001329081]|Kabuki syndrome [RCV002546303] |
Chr12:49039347 [GRCh38]
Chr12:49433130 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8259A>G (p.Pro2753=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001336571] |
Chr12:49039329 [GRCh38]
Chr12:49433112 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10258dup (p.Ile3420fs) |
duplication |
Kabuki syndrome 1 [RCV001269292] |
Chr12:49034908..49034909 [GRCh38]
Chr12:49428691..49428692 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7223dup (p.Ser2409fs) |
duplication |
Kabuki syndrome 1 [RCV001269309] |
Chr12:49040546..49040547 [GRCh38]
Chr12:49434329..49434330 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10744C>T (p.Arg3582Trp) |
single nucleotide variant |
KMT2D-related disorder [RCV003985023]|KMT2D-related disorders [RCV003336369]|Kabuki syndrome 1 [RCV001270728]|Kabuki syndrome [RCV003770415]|not provided [RCV001550815] |
Chr12:49033961 [GRCh38]
Chr12:49427744 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_003482.4(KMT2D):c.8431C>G (p.Gln2811Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001270730]|Kabuki syndrome [RCV002541654] |
Chr12:49038925 [GRCh38]
Chr12:49432708 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1459C>T (p.Arg487Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003405549]|Kabuki syndrome [RCV001326871] |
Chr12:49052224 [GRCh38]
Chr12:49446007 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1434A>T (p.Pro478=) |
single nucleotide variant |
Kabuki syndrome [RCV001422067] |
Chr12:49052249 [GRCh38]
Chr12:49446032 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15622G>A (p.Val5208Met) |
single nucleotide variant |
Kabuki syndrome [RCV001412691] |
Chr12:49026344 [GRCh38]
Chr12:49420127 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1517C>A (p.Pro506Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002070226]|not provided [RCV001355349] |
Chr12:49052166 [GRCh38]
Chr12:49445949 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8705A>G (p.Gln2902Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001306116] |
Chr12:49038651 [GRCh38]
Chr12:49432434 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.251G>A (p.Arg84His) |
single nucleotide variant |
KMT2D-related condition [RCV003898352]|Kabuki syndrome 1 [RCV002488131]|Kabuki syndrome [RCV001366060] |
Chr12:49054677 [GRCh38]
Chr12:49448460 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13672-19G>C |
single nucleotide variant |
Kabuki syndrome [RCV001416677] |
Chr12:49030787 [GRCh38]
Chr12:49424570 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10394del (p.Gly3465fs) |
deletion |
Kabuki syndrome 1 [RCV001507252] |
Chr12:49034628 [GRCh38]
Chr12:49428411 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1311G>T (p.Glu437Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001514095] |
Chr12:49052372 [GRCh38]
Chr12:49446155 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2269G>C (p.Glu757Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001522517] |
Chr12:49051414 [GRCh38]
Chr12:49445197 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10685_10688dup (p.Leu3564fs) |
duplication |
Kabuki syndrome [RCV001389767] |
Chr12:49034118..49034119 [GRCh38]
Chr12:49427901..49427902 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NC_000012.11:g.(?_49419036)_49424698del |
deletion |
Kabuki syndrome [RCV001378155] |
|
likely pathogenic |
| NM_003482.4(KMT2D):c.7395A>G (p.Pro2465=) |
single nucleotide variant |
Kabuki syndrome [RCV001473692] |
Chr12:49040375 [GRCh38]
Chr12:49434158 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6579G>A (p.Pro2193=) |
single nucleotide variant |
Kabuki syndrome [RCV001511366]|not provided [RCV001696231] |
Chr12:49041191 [GRCh38]
Chr12:49434974 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10919G>A (p.Gly3640Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001402815] |
Chr12:49033786 [GRCh38]
Chr12:49427569 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13395G>A (p.Lys4465=) |
single nucleotide variant |
Kabuki syndrome [RCV001477047] |
Chr12:49031310 [GRCh38]
Chr12:49425093 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.206del (p.Cys69fs) |
deletion |
Kabuki syndrome [RCV001388143] |
Chr12:49054722 [GRCh38]
Chr12:49448505 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11128G>A (p.Gly3710Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003965963]|Kabuki syndrome [RCV001477302] |
Chr12:49033577 [GRCh38]
Chr12:49427360 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10608C>G (p.Arg3536=) |
single nucleotide variant |
Kabuki syndrome [RCV001472024] |
Chr12:49034199 [GRCh38]
Chr12:49427982 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2328G>A (p.Glu776=) |
single nucleotide variant |
Kabuki syndrome [RCV001492962] |
Chr12:49051355 [GRCh38]
Chr12:49445138 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2439G>A (p.Pro813=) |
single nucleotide variant |
Kabuki syndrome [RCV001423494] |
Chr12:49051244 [GRCh38]
Chr12:49445027 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8973C>T (p.Pro2991=) |
single nucleotide variant |
KMT2D-related condition [RCV003956047]|Kabuki syndrome [RCV001474638]|not provided [RCV001647298]|not specified [RCV001820169] |
Chr12:49038383 [GRCh38]
Chr12:49432166 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6073_6086del (p.Ala2024_Asn2025insTer) |
deletion |
Kabuki syndrome [RCV001383940] |
Chr12:49042112..49042125 [GRCh38]
Chr12:49435895..49435908 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10824ACA[1] (p.Gln3612del) |
microsatellite |
Kabuki syndrome [RCV001426977]|not provided [RCV003490248] |
Chr12:49033876..49033878 [GRCh38]
Chr12:49427659..49427661 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9773del (p.Lys3258fs) |
deletion |
Kabuki syndrome 1 [RCV001375981]|Kabuki syndrome [RCV001865884] |
Chr12:49037583 [GRCh38]
Chr12:49431366 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14748G>C (p.Pro4916=) |
single nucleotide variant |
not provided [RCV001536938] |
Chr12:49027218 [GRCh38]
Chr12:49421001 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6905C>G (p.Pro2302Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001418384] |
Chr12:49040865 [GRCh38]
Chr12:49434648 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9565G>C (p.Gly3189Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001400653] |
Chr12:49037791 [GRCh38]
Chr12:49431574 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6177del (p.Tyr2060fs) |
deletion |
Kabuki syndrome [RCV001381056] |
Chr12:49041923 [GRCh38]
Chr12:49435706 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6990C>G (p.Pro2330=) |
single nucleotide variant |
Kabuki syndrome [RCV001446049] |
Chr12:49040780 [GRCh38]
Chr12:49434563 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14000-260C>T |
single nucleotide variant |
not provided [RCV001537255] |
Chr12:49029736 [GRCh38]
Chr12:49423519 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14382+1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV002250993] |
Chr12:49028827 [GRCh38]
Chr12:49422610 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12291del (p.Pro4098fs) |
deletion |
Kabuki syndrome 1 [RCV002251000] |
Chr12:49032414 [GRCh38]
Chr12:49426197 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7519C>A (p.His2507Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753179]|not provided [RCV001529514] |
Chr12:49040251 [GRCh38]
Chr12:49434034 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16170dup (p.Leu5391fs) |
duplication |
Kabuki syndrome [RCV001386221] |
Chr12:49022757..49022758 [GRCh38]
Chr12:49416540..49416541 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11578C>T (p.Gln3860Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001380338] |
Chr12:49033127 [GRCh38]
Chr12:49426910 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6438G>A (p.Pro2146=) |
single nucleotide variant |
Kabuki syndrome [RCV001437443] |
Chr12:49041332 [GRCh38]
Chr12:49435115 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2173_2174del (p.Leu725fs) |
deletion |
Kabuki syndrome [RCV001381337] |
Chr12:49051509..49051510 [GRCh38]
Chr12:49445292..49445293 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11179C>T (p.Arg3727Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001423358] |
Chr12:49033526 [GRCh38]
Chr12:49427309 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3907-1G>A |
single nucleotide variant |
Kabuki syndrome [RCV001378047] |
Chr12:49049219 [GRCh38]
Chr12:49443002 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4840C>T (p.Arg1614Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003588742]|not provided [RCV001532690] |
Chr12:49044867 [GRCh38]
Chr12:49438650 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4761C>T (p.Phe1587=) |
single nucleotide variant |
KMT2D-related condition [RCV003920884]|Kabuki syndrome [RCV001403693]|not provided [RCV003394035] |
Chr12:49044946 [GRCh38]
Chr12:49438729 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6477C>G (p.Leu2159=) |
single nucleotide variant |
Kabuki syndrome [RCV001393357] |
Chr12:49041293 [GRCh38]
Chr12:49435076 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001542298]|Kabuki syndrome [RCV002568943] |
Chr12:49054602 [GRCh38]
Chr12:49448385 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12946G>T (p.Glu4316Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001542682] |
Chr12:49031759 [GRCh38]
Chr12:49425542 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NC_000012.11:g.(?_49432593)_49433761del |
deletion |
Kabuki syndrome [RCV001380551] |
|
pathogenic |
| NM_003482.4(KMT2D):c.10638del (p.Gln3546fs) |
deletion |
Kabuki syndrome [RCV001385443] |
Chr12:49034169 [GRCh38]
Chr12:49427952 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3369C>T (p.Ala1123=) |
single nucleotide variant |
Kabuki syndrome [RCV001442615] |
Chr12:49050219 [GRCh38]
Chr12:49444002 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13285del (p.Gln4429fs) |
deletion |
Kabuki syndrome [RCV001390848] |
Chr12:49031420 [GRCh38]
Chr12:49425203 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2112C>T (p.Asp704=) |
single nucleotide variant |
Kabuki syndrome [RCV002568917]|not provided [RCV001534130] |
Chr12:49051571 [GRCh38]
Chr12:49445354 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10791C>T (p.Asn3597=) |
single nucleotide variant |
Kabuki syndrome [RCV001403858] |
Chr12:49033914 [GRCh38]
Chr12:49427697 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15785-1G>C |
single nucleotide variant |
Kabuki syndrome [RCV001387778] |
Chr12:49024947 [GRCh38]
Chr12:49418730 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6639C>T (p.Gly2213=) |
single nucleotide variant |
Kabuki syndrome [RCV001404138] |
Chr12:49041131 [GRCh38]
Chr12:49434914 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4131+263C>T |
single nucleotide variant |
not provided [RCV001608736] |
Chr12:49048396 [GRCh38]
Chr12:49442179 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15845G>A (p.Arg5282Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003920970]|Kabuki syndrome [RCV001457285] |
Chr12:49024886 [GRCh38]
Chr12:49418669 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5468-5C>T |
single nucleotide variant |
Kabuki syndrome [RCV001472542] |
Chr12:49043433 [GRCh38]
Chr12:49437216 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12650AGC[6] (p.Gln4221dup) |
microsatellite |
Kabuki syndrome [RCV002573355]|not provided [RCV001590359] |
Chr12:49032040..49032041 [GRCh38]
Chr12:49425823..49425824 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10909C>A (p.Pro3637Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002073218]|not provided [RCV001679212] |
Chr12:49033796 [GRCh38]
Chr12:49427579 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3565C>T (p.Arg1189Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001493905] |
Chr12:49050023 [GRCh38]
Chr12:49443806 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13942C>T (p.Leu4648=) |
single nucleotide variant |
KMT2D-related condition [RCV003900575]|Kabuki syndrome [RCV001457633] |
Chr12:49030337 [GRCh38]
Chr12:49424120 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9204G>A (p.Glu3068=) |
single nucleotide variant |
Kabuki syndrome [RCV001473244] |
Chr12:49038152 [GRCh38]
Chr12:49431935 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14382+7dup |
duplication |
Kabuki syndrome [RCV001461806] |
Chr12:49028819..49028820 [GRCh38]
Chr12:49422602..49422603 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5967G>A (p.Thr1989=) |
single nucleotide variant |
KMT2D-related condition [RCV003956125]|Kabuki syndrome [RCV001510006]|not provided [RCV001712913] |
Chr12:49042231 [GRCh38]
Chr12:49436014 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14000-200dup |
duplication |
not provided [RCV001586568] |
Chr12:49029668..49029669 [GRCh38]
Chr12:49423451..49423452 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4131+83dup |
duplication |
not provided [RCV001675097]|not specified [RCV003487663] |
Chr12:49048573..49048574 [GRCh38]
Chr12:49442356..49442357 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3502G>A (p.Val1168Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001499739] |
Chr12:49050086 [GRCh38]
Chr12:49443869 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4964-42A>G |
single nucleotide variant |
not provided [RCV001693911] |
Chr12:49044564 [GRCh38]
Chr12:49438347 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10741-6T>C |
single nucleotide variant |
Kabuki syndrome [RCV001459057] |
Chr12:49033970 [GRCh38]
Chr12:49427753 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) |
single nucleotide variant |
Kabuki syndrome [RCV001511614]|not provided [RCV001692398]|not specified [RCV001821810] |
Chr12:49040273 [GRCh38]
Chr12:49434056 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2481A>C (p.Gln827His) |
single nucleotide variant |
Inborn genetic diseases [RCV002568149]|Kabuki syndrome [RCV003771633]|not provided [RCV001528380] |
Chr12:49051202 [GRCh38]
Chr12:49444985 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15784+14C>T |
single nucleotide variant |
Kabuki syndrome [RCV001459931]|not provided [RCV001569489] |
Chr12:49026168 [GRCh38]
Chr12:49419951 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5645-63T>C |
single nucleotide variant |
not provided [RCV001647725]|not specified [RCV003487582] |
Chr12:49042941 [GRCh38]
Chr12:49436724 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13840-8dup |
duplication |
Kabuki syndrome [RCV002539564]|not provided [RCV001618776] |
Chr12:49030443..49030444 [GRCh38]
Chr12:49424226..49424227 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3907-11C>G |
single nucleotide variant |
Kabuki syndrome [RCV002073214]|not provided [RCV001686933] |
Chr12:49049229 [GRCh38]
Chr12:49443012 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1256T>G (p.Leu419Arg) |
single nucleotide variant |
not provided [RCV001565151] |
Chr12:49052566 [GRCh38]
Chr12:49446349 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1106G>A (p.Cys369Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV001468013] |
Chr12:49052921 [GRCh38]
Chr12:49446704 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15784+288C>G |
single nucleotide variant |
not provided [RCV001690170] |
Chr12:49025894 [GRCh38]
Chr12:49419677 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7604G>A (p.Arg2535His) |
single nucleotide variant |
Kabuki syndrome [RCV003753187]|not provided [RCV001653110] |
Chr12:49040166 [GRCh38]
Chr12:49433949 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.15922-2A>G |
single nucleotide variant |
Kabuki syndrome [RCV001378226] |
Chr12:49024710 [GRCh38]
Chr12:49418493 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2237G>A (p.Arg746Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001472858] |
Chr12:49051446 [GRCh38]
Chr12:49445229 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3361del (p.Asp1121fs) |
deletion |
Kabuki syndrome [RCV001390665] |
Chr12:49050227 [GRCh38]
Chr12:49444010 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11583A>G (p.Gln3861=) |
single nucleotide variant |
Kabuki syndrome [RCV001519613]|not provided [RCV001685399] |
Chr12:49033122 [GRCh38]
Chr12:49426905 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2172C>T (p.Pro724=) |
single nucleotide variant |
Kabuki syndrome [RCV001455677] |
Chr12:49051511 [GRCh38]
Chr12:49445294 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13103C>A (p.Thr4368Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001521190]|not provided [RCV001576384] |
Chr12:49031602 [GRCh38]
Chr12:49425385 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8845dup (p.Thr2949fs) |
duplication |
Kabuki syndrome 1 [RCV001507084] |
Chr12:49038510..49038511 [GRCh38]
Chr12:49432293..49432294 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13780G>C (p.Ala4594Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001401890]|not provided [RCV002225834] |
Chr12:49030660 [GRCh38]
Chr12:49424443 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1491_1492del (p.Pro497_Pro498insTer) |
deletion |
Kabuki syndrome 1 [RCV001376001] |
Chr12:49052191..49052192 [GRCh38]
Chr12:49445974..49445975 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11397G>A (p.Gln3799=) |
single nucleotide variant |
KMT2D-related condition [RCV003908612]|Kabuki syndrome [RCV001418448] |
Chr12:49033308 [GRCh38]
Chr12:49427091 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2502C>T (p.Ser834=) |
single nucleotide variant |
Kabuki syndrome [RCV001468041] |
Chr12:49051181 [GRCh38]
Chr12:49444964 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5805G>A (p.Leu1935=) |
single nucleotide variant |
Kabuki syndrome [RCV001494455] |
Chr12:49042623 [GRCh38]
Chr12:49436406 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3074C>T (p.Ser1025Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001456419]|not provided [RCV001536482] |
Chr12:49050514 [GRCh38]
Chr12:49444297 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1961C>A (p.Ser654Tyr) |
single nucleotide variant |
KMT2D-related condition [RCV003948476]|Kabuki syndrome [RCV001504111]|not provided [RCV001655736] |
Chr12:49051722 [GRCh38]
Chr12:49445505 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.16339-1G>C |
single nucleotide variant |
Kabuki syndrome [RCV001377530] |
Chr12:49022354 [GRCh38]
Chr12:49416137 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12737del (p.Pro4246fs) |
deletion |
Kabuki syndrome [RCV001386456] |
Chr12:49031968 [GRCh38]
Chr12:49425751 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11794C>G (p.Gln3932Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001520039]|not provided [RCV001587455] |
Chr12:49032911 [GRCh38]
Chr12:49426694 [GRCh37]
Chr12:12q13.12 |
pathogenic|benign|likely benign |
| NM_003482.4(KMT2D):c.4733A>G (p.Lys1578Arg) |
single nucleotide variant |
not provided [RCV001754916] |
Chr12:49045928 [GRCh38]
Chr12:49439711 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13321G>T (p.Gly4441Trp) |
single nucleotide variant |
not provided [RCV001755103] |
Chr12:49031384 [GRCh38]
Chr12:49425167 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11766_11825del (p.Leu3926_Gln3945del) |
deletion |
Kabuki syndrome 1 [RCV002249090] |
Chr12:49032880..49032939 [GRCh38]
Chr12:49426663..49426722 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11456G>A (p.Gly3819Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003108524] |
Chr12:49033249 [GRCh38]
Chr12:49427032 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2694_2708del (p.Ala899_Pro903del) |
deletion |
Kabuki syndrome 1 [RCV003227986]|Kabuki syndrome [RCV002077185]|not provided [RCV001756385] |
Chr12:49050975..49050989 [GRCh38]
Chr12:49444758..49444772 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10741-23_10741-2del |
deletion |
Kabuki syndrome 1 [RCV003127297] |
Chr12:49033966..49033987 [GRCh38]
Chr12:49427749..49427770 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.840-14A>T |
single nucleotide variant |
Kabuki syndrome [RCV003108851] |
Chr12:49053335 [GRCh38]
Chr12:49447118 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6929C>A (p.Pro2310His) |
single nucleotide variant |
Kabuki syndrome [RCV002032714]|not provided [RCV001732325] |
Chr12:49040841 [GRCh38]
Chr12:49434624 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5380G>C (p.Val1794Leu) |
single nucleotide variant |
not provided [RCV003127031] |
Chr12:49043722 [GRCh38]
Chr12:49437505 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16521+1G>T |
single nucleotide variant |
not provided [RCV001731004] |
Chr12:49022042 [GRCh38]
Chr12:49415825 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.7121A>G (p.Tyr2374Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003106915] |
Chr12:49040649 [GRCh38]
Chr12:49434432 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7164A>G (p.Gln2388=) |
single nucleotide variant |
Kabuki syndrome [RCV003108310] |
Chr12:49040606 [GRCh38]
Chr12:49434389 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11465G>A (p.Gly3822Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003108430] |
Chr12:49033240 [GRCh38]
Chr12:49427023 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7724C>T (p.Pro2575Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003588788]|not provided [RCV002255006] |
Chr12:49040046 [GRCh38]
Chr12:49433829 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4021-7C>G |
single nucleotide variant |
KMT2D-related condition [RCV003946424]|Kabuki syndrome [RCV003108930] |
Chr12:49048776 [GRCh38]
Chr12:49442559 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13141G>T (p.Asp4381Tyr) |
single nucleotide variant |
not provided [RCV002259499] |
Chr12:49031564 [GRCh38]
Chr12:49425347 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14167C>T (p.Pro4723Ser) |
single nucleotide variant |
not provided [RCV002284865] |
Chr12:49029145 [GRCh38]
Chr12:49422928 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13402C>T (p.Arg4468Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003900857]|Kabuki syndrome [RCV002539866]|not provided [RCV001756415] |
Chr12:49031303 [GRCh38]
Chr12:49425086 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5065C>T (p.Arg1689Cys) |
single nucleotide variant |
not provided [RCV001756986] |
Chr12:49044421 [GRCh38]
Chr12:49438204 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11170_11190del (p.Gln3724_Leu3730del) |
deletion |
Kabuki syndrome 1 [RCV002244128] |
Chr12:49033515..49033535 [GRCh38]
Chr12:49427298..49427318 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1601C>T (p.Thr534Met) |
single nucleotide variant |
Kabuki syndrome [RCV002032719]|not provided [RCV001732544] |
Chr12:49052082 [GRCh38]
Chr12:49445865 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10148G>A (p.Gly3383Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003588757]|not provided [RCV001732535] |
Chr12:49037208 [GRCh38]
Chr12:49430991 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14473C>T (p.Arg4825Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002032699]|not provided [RCV001725900] |
Chr12:49028051 [GRCh38]
Chr12:49421834 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10255G>T (p.Asp3419Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002273161]|not provided [RCV003319512] |
Chr12:49034912 [GRCh38]
Chr12:49428695 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13524C>T (p.Asn4508=) |
single nucleotide variant |
KMT2D-related condition [RCV003913356]|Kabuki syndrome [RCV002073990]|not provided [RCV001732858]|not specified [RCV001821974] |
Chr12:49031181 [GRCh38]
Chr12:49424964 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9194T>A (p.Ile3065Asn) |
single nucleotide variant |
not provided [RCV001760884] |
Chr12:49038162 [GRCh38]
Chr12:49431945 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5533+1G>A |
single nucleotide variant |
not provided [RCV003238476] |
Chr12:49043362 [GRCh38]
Chr12:49437145 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15239_15240del (p.Val5080fs) |
microsatellite |
not provided [RCV003147664] |
Chr12:49026726..49026727 [GRCh38]
Chr12:49420509..49420510 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14740C>A (p.Pro4914Thr) |
single nucleotide variant |
not provided [RCV001762761] |
Chr12:49027226 [GRCh38]
Chr12:49421009 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9835C>T (p.Gln3279Ter) |
single nucleotide variant |
not provided [RCV003238475] |
Chr12:49037521 [GRCh38]
Chr12:49431304 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2782C>T (p.Gln928Ter) |
single nucleotide variant |
not provided [RCV003147662] |
Chr12:49050901 [GRCh38]
Chr12:49444684 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11740C>T (p.Gln3914Ter) |
single nucleotide variant |
not provided [RCV002251811] |
Chr12:49032965 [GRCh38]
Chr12:49426748 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10295dup (p.Leu3432fs) |
duplication |
Kabuki syndrome 1 [RCV001733876] |
Chr12:49034871..49034872 [GRCh38]
Chr12:49428654..49428655 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8641C>G (p.Arg2881Gly) |
single nucleotide variant |
not provided [RCV001769315] |
Chr12:49038715 [GRCh38]
Chr12:49432498 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9885G>A (p.Met3295Ile) |
single nucleotide variant |
not provided [RCV001769329] |
Chr12:49037471 [GRCh38]
Chr12:49431254 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6223A>C (p.Lys2075Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001868605]|not provided [RCV001769362] |
Chr12:49041666 [GRCh38]
Chr12:49435449 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002275221]|Kabuki syndrome [RCV003753201]|not provided [RCV001769388] |
Chr12:49039562 [GRCh38]
Chr12:49433345 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16310A>G (p.Asn5437Ser) |
single nucleotide variant |
not provided [RCV001760950] |
Chr12:49022618 [GRCh38]
Chr12:49416401 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7407_7408insT (p.Pro2470fs) |
insertion |
Kabuki syndrome 1 [RCV001775273] |
Chr12:49040362..49040363 [GRCh38]
Chr12:49434145..49434146 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10109del (p.Gln3370fs) |
deletion |
Kabuki syndrome 1 [RCV001775291] |
Chr12:49037247 [GRCh38]
Chr12:49431030 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.621G>A (p.Met207Ile) |
single nucleotide variant |
not provided [RCV001772872] |
Chr12:49054030 [GRCh38]
Chr12:49447813 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4202C>G (p.Ser1401Cys) |
single nucleotide variant |
not provided [RCV001764806] |
Chr12:49047999 [GRCh38]
Chr12:49441782 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11550C>T (p.His3850=) |
single nucleotide variant |
Kabuki syndrome [RCV003588761]|not provided [RCV001764918] |
Chr12:49033155 [GRCh38]
Chr12:49426938 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9431C>T (p.Ala3144Val) |
single nucleotide variant |
Kabuki syndrome [RCV002540554]|not provided [RCV001772946] |
Chr12:49037925 [GRCh38]
Chr12:49431708 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3229A>G (p.Lys1077Glu) |
single nucleotide variant |
not provided [RCV001773079] |
Chr12:49050359 [GRCh38]
Chr12:49444142 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12281C>G (p.Pro4094Arg) |
single nucleotide variant |
not provided [RCV001773097] |
Chr12:49032424 [GRCh38]
Chr12:49426207 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4787G>T (p.Gly1596Val) |
single nucleotide variant |
not provided [RCV001764978] |
Chr12:49044920 [GRCh38]
Chr12:49438703 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11470C>T (p.His3824Tyr) |
single nucleotide variant |
not provided [RCV001771353] |
Chr12:49033235 [GRCh38]
Chr12:49427018 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4442G>A (p.Gly1481Glu) |
single nucleotide variant |
not provided [RCV001773385] |
Chr12:49046401 [GRCh38]
Chr12:49440184 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7650del (p.Val2551fs) |
deletion |
Kabuki syndrome 1 [RCV001788543] |
Chr12:49040120 [GRCh38]
Chr12:49433903 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11896_11922del (p.Phe3966_Gln3974del) |
deletion |
Kabuki syndrome [RCV003772040]|not provided [RCV001771471] |
Chr12:49032783..49032809 [GRCh38]
Chr12:49426566..49426592 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16522-5_16522-2del |
deletion |
Kabuki syndrome 1 [RCV001733827] |
Chr12:49021874..49021877 [GRCh38]
Chr12:49415657..49415660 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15229C>G (p.Leu5077Val) |
single nucleotide variant |
not provided [RCV001763838] |
Chr12:49026737 [GRCh38]
Chr12:49420520 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11792_11809del (p.Leu3931_Gln3936del) |
deletion |
Kabuki syndrome [RCV001882907]|not provided [RCV001767638] |
Chr12:49032896..49032913 [GRCh38]
Chr12:49426679..49426696 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6122G>A (p.Arg2041His) |
single nucleotide variant |
not provided [RCV001773910] |
Chr12:49041978 [GRCh38]
Chr12:49435761 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12396C>G (p.His4132Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001944898] |
Chr12:49032309 [GRCh38]
Chr12:49426092 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7708C>T (p.Pro2570Ser) |
single nucleotide variant |
not provided [RCV001763913] |
Chr12:49040062 [GRCh38]
Chr12:49433845 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14429A>G (p.Lys4810Arg) |
single nucleotide variant |
not provided [RCV001763958] |
Chr12:49028095 [GRCh38]
Chr12:49421878 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13019A>T (p.His4340Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003772001]|not provided [RCV001767898] |
Chr12:49031686 [GRCh38]
Chr12:49425469 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2531C>T (p.Pro844Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002540377]|not provided [RCV001765628] |
Chr12:49051152 [GRCh38]
Chr12:49444935 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5702C>T (p.Ser1901Phe) |
single nucleotide variant |
not provided [RCV001765809] |
Chr12:49042821 [GRCh38]
Chr12:49436604 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3053_3057delinsGAACA (p.Glu1018_Pro1019delinsGlyThr) |
indel |
not provided [RCV001772600] |
Chr12:49050531..49050535 [GRCh38]
Chr12:49444314..49444318 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5192T>C (p.Ile1731Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002540477]|not provided [RCV001774440] |
Chr12:49043995 [GRCh38]
Chr12:49437778 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13687C>T (p.Pro4563Ser) |
single nucleotide variant |
not provided [RCV001752004] |
Chr12:49030753 [GRCh38]
Chr12:49424536 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.3(KMT2D):c.13672_13674dup |
duplication |
not provided [RCV001767499] |
Chr12:49030765..49030766 [GRCh38]
Chr12:49424548..49424549 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3752C>T (p.Ala1251Val) |
single nucleotide variant |
not provided [RCV001767637] |
Chr12:49049836 [GRCh38]
Chr12:49443619 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14009A>T (p.Glu4670Val) |
single nucleotide variant |
Kabuki syndrome [RCV002543976]|not provided [RCV001764964] |
Chr12:49029467 [GRCh38]
Chr12:49423250 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2674T>C (p.Ser892Pro) |
single nucleotide variant |
not provided [RCV001752271] |
Chr12:49051009 [GRCh38]
Chr12:49444792 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5542G>A (p.Asp1848Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002295354]|not provided [RCV001800136] |
Chr12:49043178 [GRCh38]
Chr12:49436961 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15175C>T (p.His5059Tyr) |
single nucleotide variant |
not provided [RCV001786241] |
Chr12:49026791 [GRCh38]
Chr12:49420574 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14496G>T (p.Lys4832Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002541240]|Kabuki syndrome [RCV001868877]|not provided [RCV001786243] |
Chr12:49028028 [GRCh38]
Chr12:49421811 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15991C>G (p.Leu5331Val) |
single nucleotide variant |
not provided [RCV001751928] |
Chr12:49024639 [GRCh38]
Chr12:49418422 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7205C>T (p.Ser2402Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003588760]|not provided [RCV001751997] |
Chr12:49040565 [GRCh38]
Chr12:49434348 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15104G>A (p.Cys5035Tyr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001775289] |
Chr12:49026862 [GRCh38]
Chr12:49420645 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6323dup (p.Gln2109fs) |
duplication |
Kabuki syndrome 1 [RCV001775366] |
Chr12:49041446..49041447 [GRCh38]
Chr12:49435229..49435230 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5524G>T (p.Asp1842Tyr) |
single nucleotide variant |
not provided [RCV001767899] |
Chr12:49043372 [GRCh38]
Chr12:49437155 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1268G>A (p.Gly423Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003771932]|not provided [RCV001764884] |
Chr12:49052415 [GRCh38]
Chr12:49446198 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13568A>G (p.Lys4523Arg) |
single nucleotide variant |
not provided [RCV001769311] |
Chr12:49030996 [GRCh38]
Chr12:49424779 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6074A>T (p.Asn2025Ile) |
single nucleotide variant |
not provided [RCV001776491] |
Chr12:49042124 [GRCh38]
Chr12:49435907 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8519C>T (p.Thr2840Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002034485]|not provided [RCV001774180] |
Chr12:49038837 [GRCh38]
Chr12:49432620 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3907G>C (p.Gly1303Arg) |
single nucleotide variant |
not provided [RCV001752644] |
Chr12:49049218 [GRCh38]
Chr12:49443001 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.620T>A (p.Met207Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003753195]|not provided [RCV001756802] |
Chr12:49054031 [GRCh38]
Chr12:49447814 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15071A>G (p.Lys5024Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003772015]|not provided [RCV001752706] |
Chr12:49026895 [GRCh38]
Chr12:49420678 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8986G>A (p.Asp2996Asn) |
single nucleotide variant |
not provided [RCV001752834] |
Chr12:49038370 [GRCh38]
Chr12:49432153 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12755C>T (p.Pro4252Leu) |
single nucleotide variant |
not provided [RCV001765285] |
Chr12:49031950 [GRCh38]
Chr12:49425733 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2439_2496delinsATGCCTGTCCCCCCGGCCTGAGGAATCGCAT (p.His814_Gln827delinsCysLeuSerProArg) |
indel |
not provided [RCV001794802] |
Chr12:49051187..49051244 [GRCh38]
Chr12:49444970..49445027 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15608C>G (p.Thr5203Ser) |
single nucleotide variant |
not provided [RCV001765847] |
Chr12:49026358 [GRCh38]
Chr12:49420141 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1419A>T (p.Glu473Asp) |
single nucleotide variant |
not provided [RCV001760974] |
Chr12:49052264 [GRCh38]
Chr12:49446047 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9480G>C (p.Met3160Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003753194]|not provided [RCV001765476] |
Chr12:49037876 [GRCh38]
Chr12:49431659 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2110G>T (p.Asp704Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003753198]|not provided [RCV001752750] |
Chr12:49051573 [GRCh38]
Chr12:49445356 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6779G>A (p.Ser2260Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002544110]|not provided [RCV001752826] |
Chr12:49040991 [GRCh38]
Chr12:49434774 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15889A>T (p.Thr5297Ser) |
single nucleotide variant |
not provided [RCV001769195] |
Chr12:49024842 [GRCh38]
Chr12:49418625 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10930C>T (p.Pro3644Ser) |
single nucleotide variant |
not provided [RCV001753940] |
Chr12:49033775 [GRCh38]
Chr12:49427558 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6647C>T (p.Ser2216Phe) |
single nucleotide variant |
not provided [RCV001754197] |
Chr12:49041123 [GRCh38]
Chr12:49434906 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14990A>T (p.Gln4997Leu) |
single nucleotide variant |
not provided [RCV001771280] |
Chr12:49026976 [GRCh38]
Chr12:49420759 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13834A>T (p.Thr4612Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753196]|not provided [RCV001758605] |
Chr12:49030606 [GRCh38]
Chr12:49424389 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8104C>T (p.Gln2702Ter) |
single nucleotide variant |
not provided [RCV003147671] |
Chr12:49039560 [GRCh38]
Chr12:49433343 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14093A>T (p.Asp4698Val) |
single nucleotide variant |
not provided [RCV001779668] |
Chr12:49029219 [GRCh38]
Chr12:49423002 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11731C>T (p.Gln3911Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001808846]|not provided [RCV002256842] |
Chr12:49032974 [GRCh38]
Chr12:49426757 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5185G>T (p.Glu1729Ter) |
single nucleotide variant |
not provided [RCV003147661] |
Chr12:49044203 [GRCh38]
Chr12:49437986 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15223_15227dup (p.Leu5077fs) |
duplication |
not provided [RCV003147663] |
Chr12:49026738..49026739 [GRCh38]
Chr12:49420521..49420522 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16267G>T (p.Val5423Phe) |
single nucleotide variant |
not provided [RCV001762926] |
Chr12:49022661 [GRCh38]
Chr12:49416444 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13736T>C (p.Phe4579Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002540320]|not provided [RCV001763129] |
Chr12:49030704 [GRCh38]
Chr12:49424487 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10392G>A (p.Gly3464=) |
single nucleotide variant |
KMT2D-related condition [RCV003968557]|Kabuki syndrome [RCV002074120]|not provided [RCV001794696] |
Chr12:49034630 [GRCh38]
Chr12:49428413 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001839058]|Kabuki syndrome [RCV002034647]|not provided [RCV001794792] |
Chr12:49039993 [GRCh38]
Chr12:49433776 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16464T>A (p.Phe5488Leu) |
single nucleotide variant |
not provided [RCV001763513] |
Chr12:49022100 [GRCh38]
Chr12:49415883 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9554T>C (p.Phe3185Ser) |
single nucleotide variant |
not provided [RCV001799962] |
Chr12:49037802 [GRCh38]
Chr12:49431585 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11843_11860del (p.Leu3948_Gln3953del) |
deletion |
Kabuki syndrome [RCV002032776]|not provided [RCV001756702] |
Chr12:49032845..49032862 [GRCh38]
Chr12:49426628..49426645 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10741-11T>A |
single nucleotide variant |
not provided [RCV001752458] |
Chr12:49033975 [GRCh38]
Chr12:49427758 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6907A>G (p.Asn2303Asp) |
single nucleotide variant |
not provided [RCV001797207] |
Chr12:49040863 [GRCh38]
Chr12:49434646 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5276G>A (p.Arg1759His) |
single nucleotide variant |
Kabuki syndrome [RCV001868809]|not provided [RCV001776642] |
Chr12:49043911 [GRCh38]
Chr12:49437694 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5598A>C (p.Pro1866=) |
single nucleotide variant |
not specified [RCV001817599] |
Chr12:49043122 [GRCh38]
Chr12:49436905 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2250_2276dup (p.746RPEEPHLSP[3]) |
duplication |
not provided [RCV001797405] |
Chr12:49051406..49051407 [GRCh38]
Chr12:49445189..49445190 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.448T>C (p.Trp150Arg) |
single nucleotide variant |
not provided [RCV001797477] |
Chr12:49054369 [GRCh38]
Chr12:49448152 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12635_12636delinsTT (p.Arg4212Leu) |
indel |
not provided [RCV001797525] |
Chr12:49032069..49032070 [GRCh38]
Chr12:49425852..49425853 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13560G>A (p.Pro4520=) |
single nucleotide variant |
KMT2D-related condition [RCV003892864]|Kabuki syndrome [RCV002542525]|not specified [RCV001817358] |
Chr12:49031004 [GRCh38]
Chr12:49424787 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16412+32G>A |
single nucleotide variant |
not provided [RCV001756374] |
Chr12:49022248 [GRCh38]
Chr12:49416031 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12364G>A (p.Gly4122Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003892828]|not provided [RCV001760881] |
Chr12:49032341 [GRCh38]
Chr12:49426124 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5201A>G (p.Asp1734Gly) |
single nucleotide variant |
not provided [RCV001761014] |
Chr12:49043986 [GRCh38]
Chr12:49437769 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5993A>G (p.Tyr1998Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003588758]|not provided [RCV001757812] |
Chr12:49042205 [GRCh38]
Chr12:49435988 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13859C>T (p.Pro4620Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003900858]|not provided [RCV001757905] |
Chr12:49030420 [GRCh38]
Chr12:49424203 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16521G>C (p.Glu5507Asp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003314015]|not provided [RCV001758287] |
Chr12:49022043 [GRCh38]
Chr12:49415826 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.4020+16C>T |
single nucleotide variant |
Kabuki syndrome [RCV002077184]|not provided [RCV001756373] |
Chr12:49049089 [GRCh38]
Chr12:49442872 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3584C>G (p.Thr1195Arg) |
single nucleotide variant |
not provided [RCV001758803] |
Chr12:49050004 [GRCh38]
Chr12:49443787 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10151_10171dup (p.Thr3384_Cys3390dup) |
duplication |
Kabuki syndrome 1 [RCV001779374] |
Chr12:49037184..49037185 [GRCh38]
Chr12:49430967..49430968 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15975_15976delinsTT (p.Leu5326Phe) |
indel |
Kabuki syndrome 1 [RCV001809115] |
Chr12:49024654..49024655 [GRCh38]
Chr12:49418437..49418438 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5713C>T (p.Gln1905Ter) |
single nucleotide variant |
not provided [RCV001817830] |
Chr12:49042810 [GRCh38]
Chr12:49436593 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2317del (p.Gln773fs) |
deletion |
not provided [RCV001818036] |
Chr12:49051366 [GRCh38]
Chr12:49445149 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.709G>T (p.Glu237Ter) |
single nucleotide variant |
not provided [RCV001818046] |
Chr12:49053606 [GRCh38]
Chr12:49447389 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4138T>C (p.Cys1380Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001809117] |
Chr12:49048063 [GRCh38]
Chr12:49441846 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1978T>G (p.Ser660Ala) |
single nucleotide variant |
not specified [RCV001819247] |
Chr12:49051705 [GRCh38]
Chr12:49445488 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11738AGC[5] (p.Gln3918_Gln3919del) |
microsatellite |
KMT2D-related condition [RCV003394260]|Kabuki syndrome [RCV001869480]|not provided [RCV001806485] |
Chr12:49032947..49032952 [GRCh38]
Chr12:49426730..49426735 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5407A>G (p.Thr1803Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003892855]|Kabuki syndrome [RCV001869484]|not provided [RCV001806563] |
Chr12:49043695 [GRCh38]
Chr12:49437478 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.825G>A (p.Val275=) |
single nucleotide variant |
Kabuki syndrome [RCV003588771]|not specified [RCV001819448] |
Chr12:49053490 [GRCh38]
Chr12:49447273 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14839C>T (p.Pro4947Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753206]|not specified [RCV001819465] |
Chr12:49027127 [GRCh38]
Chr12:49420910 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13804A>G (p.Thr4602Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002542469]|not provided [RCV001815741] |
Chr12:49030636 [GRCh38]
Chr12:49424419 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6501G>A (p.Val2167=) |
single nucleotide variant |
Kabuki syndrome [RCV002074322]|not specified [RCV001820231] |
Chr12:49041269 [GRCh38]
Chr12:49435052 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11342G>A (p.Ser3781Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001885339]|not specified [RCV001820232] |
Chr12:49033363 [GRCh38]
Chr12:49427146 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12610G>A (p.Val4204Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003394275]|Kabuki syndrome [RCV001869712]|not specified [RCV001820329] |
Chr12:49032095 [GRCh38]
Chr12:49425878 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5921C>T (p.Thr1974Met) |
single nucleotide variant |
KMT2D-related condition [RCV003913390]|Kabuki syndrome [RCV001885305]|not provided [RCV001816115]|not specified [RCV001822016] |
Chr12:49042277 [GRCh38]
Chr12:49436060 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6276C>T (p.Asp2092=) |
single nucleotide variant |
not specified [RCV001820675] |
Chr12:49041494 [GRCh38]
Chr12:49435277 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7377C>T (p.Ser2459=) |
single nucleotide variant |
Kabuki syndrome [RCV003753209]|not specified [RCV001820676] |
Chr12:49040393 [GRCh38]
Chr12:49434176 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8317T>C (p.Ser2773Pro) |
single nucleotide variant |
not specified [RCV001820696] |
Chr12:49039271 [GRCh38]
Chr12:49433054 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003968581]|Kabuki syndrome [RCV001869753]|not specified [RCV001822424] |
Chr12:49040949 [GRCh38]
Chr12:49434732 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1296C>T (p.Ala432=) |
single nucleotide variant |
Kabuki syndrome [RCV002074367]|not provided [RCV003394278]|not specified [RCV001822734] |
Chr12:49052387 [GRCh38]
Chr12:49446170 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9790C>T (p.Gln3264Ter) |
single nucleotide variant |
Abnormality of the nervous system [RCV001814364] |
Chr12:49037566 [GRCh38]
Chr12:49431349 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs) |
indel |
Kabuki syndrome [RCV003753210]|not provided [RCV001817686] |
Chr12:49041157 [GRCh38]
Chr12:49434940 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11796ACAGCAGCA[1] (p.Gln3937_Gln3939del) |
microsatellite |
Kabuki syndrome [RCV001869785]|not provided [RCV003132540]|not specified [RCV001817781] |
Chr12:49032892..49032900 [GRCh38]
Chr12:49426675..49426683 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4339G>T (p.Asp1447Tyr) |
single nucleotide variant |
not provided [RCV001806616] |
Chr12:49046688 [GRCh38]
Chr12:49440471 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1377_1403del (p.Ala464_Glu472del) |
deletion |
Kabuki syndrome [RCV001885357]|not specified [RCV001817982] |
Chr12:49052280..49052306 [GRCh38]
Chr12:49446063..49446089 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3310C>T (p.Pro1104Ser) |
single nucleotide variant |
not provided [RCV001806513] |
Chr12:49050278 [GRCh38]
Chr12:49444061 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2488G>T (p.Glu830Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001809116] |
Chr12:49051195 [GRCh38]
Chr12:49444978 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7108C>T (p.Arg2370Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003407823]|Kabuki syndrome [RCV001869688]|not specified [RCV001819353] |
Chr12:49040662 [GRCh38]
Chr12:49434445 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15184T>C (p.Cys5062Arg) |
single nucleotide variant |
not specified [RCV001819552] |
Chr12:49026782 [GRCh38]
Chr12:49420565 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13710C>T (p.Thr4570=) |
single nucleotide variant |
Kabuki syndrome [RCV002074319]|not specified [RCV001819616] |
Chr12:49030730 [GRCh38]
Chr12:49424513 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1447T>C (p.Leu483=) |
single nucleotide variant |
Kabuki syndrome [RCV003753207]|not specified [RCV001820479] |
Chr12:49052236 [GRCh38]
Chr12:49446019 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14028G>T (p.Leu4676=) |
single nucleotide variant |
Kabuki syndrome [RCV003753208]|not specified [RCV001820606] |
Chr12:49029448 [GRCh38]
Chr12:49423231 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1759G>C (p.Glu587Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003401735]|Kabuki syndrome [RCV001885316]|not specified [RCV001822319] |
Chr12:49051924 [GRCh38]
Chr12:49445707 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003416478]|Kabuki syndrome [RCV001869750]|not specified [RCV001822398] |
Chr12:49037926 [GRCh38]
Chr12:49431709 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003913415]|Kabuki syndrome [RCV001869765]|not specified [RCV001822629] |
Chr12:49040272 [GRCh38]
Chr12:49434055 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12664C>G (p.Leu4222Val) |
single nucleotide variant |
Kabuki syndrome [RCV001869766]|not specified [RCV001822645] |
Chr12:49032041 [GRCh38]
Chr12:49425824 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5681T>A (p.Leu1894His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001809118] |
Chr12:49042842 [GRCh38]
Chr12:49436625 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15908G>A (p.Arg5303His) |
single nucleotide variant |
Kabuki syndrome [RCV001885252]|not provided [RCV001806612] |
Chr12:49024823 [GRCh38]
Chr12:49418606 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5060G>A (p.Arg1687His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001808183]|Kabuki syndrome [RCV002541467] |
Chr12:49044426 [GRCh38]
Chr12:49438209 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001803486]|Kabuki syndrome [RCV002541349]|not provided [RCV003394259] |
Chr12:49034612 [GRCh38]
Chr12:49428395 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9736C>A (p.Pro3246Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001809119] |
Chr12:49037620 [GRCh38]
Chr12:49431403 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16160A>G (p.Gln5387Arg) |
single nucleotide variant |
not provided [RCV001810380] |
Chr12:49022768 [GRCh38]
Chr12:49416551 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4423G>C (p.Val1475Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001963804] |
Chr12:49046420 [GRCh38]
Chr12:49440203 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1011G>A (p.Ser337=) |
single nucleotide variant |
KMT2D-related condition [RCV003892923]|Kabuki syndrome [RCV001889152] |
Chr12:49053016 [GRCh38]
Chr12:49446799 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12995C>G (p.Thr4332Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002025214] |
Chr12:49031710 [GRCh38]
Chr12:49425493 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4018G>A (p.Val1340Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001988263] |
Chr12:49049107 [GRCh38]
Chr12:49442890 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14086G>A (p.Asp4696Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001929120] |
Chr12:49029226 [GRCh38]
Chr12:49423009 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12685C>T (p.Arg4229Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002025898] |
Chr12:49032020 [GRCh38]
Chr12:49425803 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8875A>G (p.Thr2959Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001911490] |
Chr12:49038481 [GRCh38]
Chr12:49432264 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6180C>A (p.Tyr2060Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002007499] |
Chr12:49041920 [GRCh38]
Chr12:49435703 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12713G>A (p.Arg4238His) |
single nucleotide variant |
Kabuki syndrome [RCV001986915] |
Chr12:49031992 [GRCh38]
Chr12:49425775 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4690del (p.Val1564fs) |
deletion |
Kabuki syndrome [RCV001949519] |
Chr12:49046068 [GRCh38]
Chr12:49439851 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10145T>G (p.Met3382Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002045289] |
Chr12:49037211 [GRCh38]
Chr12:49430994 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6995C>T (p.Thr2332Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002045595] |
Chr12:49040775 [GRCh38]
Chr12:49434558 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2588G>T (p.Arg863Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002554372]|Kabuki syndrome [RCV001896901] |
Chr12:49051095 [GRCh38]
Chr12:49444878 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1463C>G (p.Pro488Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001912238] |
Chr12:49052220 [GRCh38]
Chr12:49446003 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6609G>A (p.Thr2203=) |
single nucleotide variant |
KMT2D-related condition [RCV003911137]|Kabuki syndrome [RCV001970846]|not provided [RCV003395329] |
Chr12:49041161 [GRCh38]
Chr12:49434944 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4917C>G (p.Asp1639Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002022715] |
Chr12:49044790 [GRCh38]
Chr12:49438573 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14395G>A (p.Val4799Met) |
single nucleotide variant |
Kabuki syndrome [RCV001913727] |
Chr12:49028129 [GRCh38]
Chr12:49421912 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001837330] |
Chr12:49041142 [GRCh38]
Chr12:49434925 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1217C>G (p.Pro406Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001895141] |
Chr12:49052605 [GRCh38]
Chr12:49446388 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1486C>T (p.Pro496Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002024820] |
Chr12:49052197 [GRCh38]
Chr12:49445980 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.193C>A (p.Arg65Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002008555] |
Chr12:49054735 [GRCh38]
Chr12:49448518 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7663G>A (p.Gly2555Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001896596] |
Chr12:49040107 [GRCh38]
Chr12:49433890 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14812A>G (p.Thr4938Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001971600] |
Chr12:49027154 [GRCh38]
Chr12:49420937 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13655T>C (p.Leu4552Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002025808] |
Chr12:49030909 [GRCh38]
Chr12:49424692 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1078T>C (p.Ser360Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001945457] |
Chr12:49052949 [GRCh38]
Chr12:49446732 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.163C>T (p.Pro55Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002008566] |
Chr12:49054913 [GRCh38]
Chr12:49448696 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13406C>A (p.Ala4469Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002008718] |
Chr12:49031299 [GRCh38]
Chr12:49425082 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.757G>A (p.Gly253Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001929745] |
Chr12:49053558 [GRCh38]
Chr12:49447341 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5783-1G>C |
single nucleotide variant |
not provided [RCV002051597] |
Chr12:49042646 [GRCh38]
Chr12:49436429 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.12854G>T (p.Gly4285Val) |
single nucleotide variant |
Kabuki syndrome [RCV001864008] |
Chr12:49031851 [GRCh38]
Chr12:49425634 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5587C>T (p.Pro1863Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002074400]|not provided [RCV001840934] |
Chr12:49043133 [GRCh38]
Chr12:49436916 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3995C>T (p.Thr1332Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002024863] |
Chr12:49049130 [GRCh38]
Chr12:49442913 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9428C>T (p.Pro3143Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001872937] |
Chr12:49037928 [GRCh38]
Chr12:49431711 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5277C>T (p.Arg1759=) |
single nucleotide variant |
Kabuki syndrome [RCV001964510] |
Chr12:49043910 [GRCh38]
Chr12:49437693 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14684C>T (p.Thr4895Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001893198] |
Chr12:49027282 [GRCh38]
Chr12:49421065 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7654C>A (p.Pro2552Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002023306] |
Chr12:49040116 [GRCh38]
Chr12:49433899 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14457C>G (p.Phe4819Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001929072] |
Chr12:49028067 [GRCh38]
Chr12:49421850 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1274A>G (p.Gln425Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001949707] |
Chr12:49052409 [GRCh38]
Chr12:49446192 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4142_4143del (p.Val1381fs) |
microsatellite |
Kabuki syndrome [RCV001947054] |
Chr12:49048058..49048059 [GRCh38]
Chr12:49441841..49441842 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12979A>T (p.Ser4327Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002044787] |
Chr12:49031726 [GRCh38]
Chr12:49425509 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1889C>G (p.Pro630Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001950450] |
Chr12:49051794 [GRCh38]
Chr12:49445577 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5295G>C (p.Glu1765Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001965155] |
Chr12:49043892 [GRCh38]
Chr12:49437675 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.335G>C (p.Ser112Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001863871] |
Chr12:49054593 [GRCh38]
Chr12:49448376 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15585G>C (p.Gln5195His) |
single nucleotide variant |
Kabuki syndrome [RCV001970973] |
Chr12:49026381 [GRCh38]
Chr12:49420164 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2075C>G (p.Pro692Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001950453] |
Chr12:49051608 [GRCh38]
Chr12:49445391 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11871GCAACA[3] (p.Gln3964_Gln3965dup) |
microsatellite |
Kabuki syndrome [RCV001914044]|not provided [RCV003325589] |
Chr12:49032822..49032823 [GRCh38]
Chr12:49426605..49426606 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5173G>T (p.Gly1725Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001871050] |
Chr12:49044215 [GRCh38]
Chr12:49437998 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10166T>C (p.Met3389Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001987813] |
Chr12:49037190 [GRCh38]
Chr12:49430973 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10513G>A (p.Ala3505Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001970982] |
Chr12:49034294 [GRCh38]
Chr12:49428077 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6508C>G (p.Gln2170Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003401993]|Kabuki syndrome [RCV001970897] |
Chr12:49041262 [GRCh38]
Chr12:49435045 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13486G>T (p.Ala4496Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001915143] |
Chr12:49031219 [GRCh38]
Chr12:49425002 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10160C>G (p.Pro3387Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001987503] |
Chr12:49037196 [GRCh38]
Chr12:49430979 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10369C>G (p.Leu3457Val) |
single nucleotide variant |
Kabuki syndrome [RCV001864067] |
Chr12:49034653 [GRCh38]
Chr12:49428436 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.493T>G (p.Phe165Val) |
single nucleotide variant |
Kabuki syndrome [RCV001874277] |
Chr12:49054324 [GRCh38]
Chr12:49448107 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14186G>A (p.Arg4729Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001914830] |
Chr12:49029126 [GRCh38]
Chr12:49422909 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11045A>G (p.Gln3682Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001909427] |
Chr12:49033660 [GRCh38]
Chr12:49427443 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5689G>A (p.Asp1897Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001909435] |
Chr12:49042834 [GRCh38]
Chr12:49436617 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6326A>G (p.Gln2109Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002021344] |
Chr12:49041444 [GRCh38]
Chr12:49435227 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2384C>G (p.Pro795Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002044590] |
Chr12:49051299 [GRCh38]
Chr12:49445082 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13623GGA[1] (p.Glu4542del) |
microsatellite |
Kabuki syndrome [RCV001896353] |
Chr12:49030936..49030938 [GRCh38]
Chr12:49424719..49424721 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11202GCA[4] (p.Gln3743_Gln3745del) |
microsatellite |
Kabuki syndrome [RCV001863569] |
Chr12:49033483..49033491 [GRCh38]
Chr12:49427266..49427274 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14071dup (p.Val4691fs) |
duplication |
Kabuki syndrome [RCV001896877] |
Chr12:49029404..49029405 [GRCh38]
Chr12:49423187..49423188 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2264_2265delinsTT (p.Arg755Leu) |
indel |
Kabuki syndrome [RCV001909696] |
Chr12:49051418..49051419 [GRCh38]
Chr12:49445201..49445202 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5782+1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV002509742]|Kabuki syndrome [RCV002006598] |
Chr12:49042740 [GRCh38]
Chr12:49436523 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4150G>A (p.Gly1384Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001986096] |
Chr12:49048051 [GRCh38]
Chr12:49441834 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5526del (p.Asp1842fs) |
deletion |
Kabuki syndrome [RCV001964871] |
Chr12:49043370 [GRCh38]
Chr12:49437153 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15959G>A (p.Arg5320His) |
single nucleotide variant |
Kabuki syndrome [RCV001893823] |
Chr12:49024671 [GRCh38]
Chr12:49418454 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10186T>A (p.Leu3396Met) |
single nucleotide variant |
Kabuki syndrome [RCV002005313] |
Chr12:49037170 [GRCh38]
Chr12:49430953 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11951T>C (p.Leu3984Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001983530] |
Chr12:49032754 [GRCh38]
Chr12:49426537 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8674G>A (p.Gly2892Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002023366] |
Chr12:49038682 [GRCh38]
Chr12:49432465 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.675G>C (p.Glu225Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001909234] |
Chr12:49053640 [GRCh38]
Chr12:49447423 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13694C>T (p.Thr4565Met) |
single nucleotide variant |
Kabuki syndrome [RCV001911388] |
Chr12:49030746 [GRCh38]
Chr12:49424529 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11399G>A (p.Gly3800Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001892928] |
Chr12:49033306 [GRCh38]
Chr12:49427089 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7421C>T (p.Pro2474Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001892951] |
Chr12:49040349 [GRCh38]
Chr12:49434132 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13258C>T (p.Arg4420Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002042081] |
Chr12:49031447 [GRCh38]
Chr12:49425230 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2797+13del |
deletion |
Kabuki syndrome [RCV001983441] |
Chr12:49050873 [GRCh38]
Chr12:49444656 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6497A>G (p.Gln2166Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001926583] |
Chr12:49041273 [GRCh38]
Chr12:49435056 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10957G>A (p.Gly3653Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001891717] |
Chr12:49033748 [GRCh38]
Chr12:49427531 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1970C>T (p.Pro657Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002560634]|Kabuki syndrome [RCV001967238] |
Chr12:49051713 [GRCh38]
Chr12:49445496 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6013C>T (p.Arg2005Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002040759] |
Chr12:49042185 [GRCh38]
Chr12:49435968 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3874C>T (p.Arg1292Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001967862] |
Chr12:49049714 [GRCh38]
Chr12:49443497 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9971G>T (p.Gly3324Val) |
single nucleotide variant |
Kabuki syndrome [RCV001966618] |
Chr12:49037385 [GRCh38]
Chr12:49431168 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6360T>C (p.Ala2120=) |
single nucleotide variant |
Kabuki syndrome [RCV002002451] |
Chr12:49041410 [GRCh38]
Chr12:49435193 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.393A>T (p.Glu131Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001984364] |
Chr12:49054535 [GRCh38]
Chr12:49448318 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5569C>T (p.Pro1857Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002040049] |
Chr12:49043151 [GRCh38]
Chr12:49436934 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.961C>T (p.Arg321Trp) |
single nucleotide variant |
Kabuki syndrome [RCV001891950] |
Chr12:49053066 [GRCh38]
Chr12:49446849 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13239_13240insT (p.Ser4414Ter) |
insertion |
Kabuki syndrome [RCV001946997] |
Chr12:49031465..49031466 [GRCh38]
Chr12:49425248..49425249 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.664G>C (p.Ala222Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002020937] |
Chr12:49053987 [GRCh38]
Chr12:49447770 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7327C>T (p.Arg2443Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001964725]|not provided [RCV003395294] |
Chr12:49040443 [GRCh38]
Chr12:49434226 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5276_5277dup (p.Lys1760fs) |
microsatellite |
Kabuki syndrome [RCV002002464] |
Chr12:49043909..49043910 [GRCh38]
Chr12:49437692..49437693 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3050T>C (p.Met1017Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001965103] |
Chr12:49050538 [GRCh38]
Chr12:49444321 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11414C>T (p.Ala3805Val) |
single nucleotide variant |
Kabuki syndrome [RCV001984038] |
Chr12:49033291 [GRCh38]
Chr12:49427074 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14502dup (p.Ala4835fs) |
duplication |
Kabuki syndrome 1 [RCV002052196] |
Chr12:49028021..49028022 [GRCh38]
Chr12:49421804..49421805 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002484571]|Kabuki syndrome [RCV001926414] |
Chr12:49030355 [GRCh38]
Chr12:49424138 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9872_9882dup (p.Met3295fs) |
duplication |
Kabuki syndrome 1 [RCV001843824] |
Chr12:49037473..49037474 [GRCh38]
Chr12:49431256..49431257 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1909C>A (p.Pro637Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001984202] |
Chr12:49051774 [GRCh38]
Chr12:49445557 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5213A>G (p.Glu1738Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001945959] |
Chr12:49043974 [GRCh38]
Chr12:49437757 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15560C>G (p.Ala5187Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001885390]|not provided [RCV001843634] |
Chr12:49026406 [GRCh38]
Chr12:49420189 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13295A>C (p.Lys4432Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002003547] |
Chr12:49031410 [GRCh38]
Chr12:49425193 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6820T>C (p.Ser2274Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001947748] |
Chr12:49040950 [GRCh38]
Chr12:49434733 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5645-1G>A |
single nucleotide variant |
not provided [RCV001837427] |
Chr12:49042879 [GRCh38]
Chr12:49436662 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.1343C>A (p.Pro448His) |
single nucleotide variant |
Kabuki syndrome [RCV002022877] |
Chr12:49052340 [GRCh38]
Chr12:49446123 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14636T>G (p.Leu4879Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002044198] |
Chr12:49027810 [GRCh38]
Chr12:49421593 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.604G>A (p.Gly202Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001928750] |
Chr12:49054047 [GRCh38]
Chr12:49447830 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) |
copy number gain |
not specified [RCV002052988] |
Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4882G>T (p.Gly1628Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002005788] |
Chr12:49044825 [GRCh38]
Chr12:49438608 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8650G>A (p.Val2884Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002008115] |
Chr12:49038706 [GRCh38]
Chr12:49432489 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4741G>C (p.Glu1581Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001965950] |
Chr12:49045920 [GRCh38]
Chr12:49439703 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11846AACAGCAGC[3] (p.Gln3952_Gln3954dup) |
microsatellite |
Kabuki syndrome [RCV001913942] |
Chr12:49032841..49032842 [GRCh38]
Chr12:49426624..49426625 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7616C>T (p.Pro2539Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001926401] |
Chr12:49040154 [GRCh38]
Chr12:49433937 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1554_1577del (p.Leu520_Pro527del) |
deletion |
Kabuki syndrome [RCV002024060] |
Chr12:49052106..49052129 [GRCh38]
Chr12:49445889..49445912 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11627T>G (p.Leu3876Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001913967] |
Chr12:49033078 [GRCh38]
Chr12:49426861 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001839231] |
Chr12:49040286 [GRCh38]
Chr12:49434069 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6237G>T (p.Gln2079His) |
single nucleotide variant |
Kabuki syndrome [RCV001985959] |
Chr12:49041533 [GRCh38]
Chr12:49435316 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13735T>A (p.Phe4579Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002003880] |
Chr12:49030705 [GRCh38]
Chr12:49424488 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13211G>C (p.Gly4404Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001928548] |
Chr12:49031494 [GRCh38]
Chr12:49425277 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7879T>C (p.Tyr2627His) |
single nucleotide variant |
Kabuki syndrome [RCV001895655]|not provided [RCV003389884] |
Chr12:49039891 [GRCh38]
Chr12:49433674 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11329A>C (p.Met3777Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001872084] |
Chr12:49033376 [GRCh38]
Chr12:49427159 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1832C>G (p.Pro611Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001913333] |
Chr12:49051851 [GRCh38]
Chr12:49445634 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14272dup (p.Tyr4758fs) |
duplication |
Kabuki syndrome [RCV001927878] |
Chr12:49028937..49028938 [GRCh38]
Chr12:49422720..49422721 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3524C>T (p.Thr1175Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001987286] |
Chr12:49050064 [GRCh38]
Chr12:49443847 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9326C>T (p.Pro3109Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001926516] |
Chr12:49038030 [GRCh38]
Chr12:49431813 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8695G>C (p.Gly2899Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001927366] |
Chr12:49038661 [GRCh38]
Chr12:49432444 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3122A>G (p.Gln1041Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003984129]|Kabuki syndrome [RCV001894183] |
Chr12:49050466 [GRCh38]
Chr12:49444249 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2444T>G (p.Leu815Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001987306] |
Chr12:49051239 [GRCh38]
Chr12:49445022 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14383-1G>A |
single nucleotide variant |
not provided [RCV002053863] |
Chr12:49028142 [GRCh38]
Chr12:49421925 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.12203C>T (p.Ser4068Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002044050] |
Chr12:49032502 [GRCh38]
Chr12:49426285 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2320C>T (p.Pro774Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002024425] |
Chr12:49051363 [GRCh38]
Chr12:49445146 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5934C>T (p.Gly1978=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003224592]|Kabuki syndrome [RCV002002019] |
Chr12:49042264 [GRCh38]
Chr12:49436047 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1078T>A (p.Ser360Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002002057] |
Chr12:49052949 [GRCh38]
Chr12:49446732 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002562094]|KMT2D-related condition [RCV003418218]|Kabuki syndrome 1 [RCV002503667]|Kabuki syndrome [RCV002002120] |
Chr12:49033015 [GRCh38]
Chr12:49426798 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6464C>T (p.Ser2155Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001872220] |
Chr12:49041306 [GRCh38]
Chr12:49435089 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1228G>C (p.Gly410Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001970275] |
Chr12:49052594 [GRCh38]
Chr12:49446377 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.812C>G (p.Pro271Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001986740]|not specified [RCV003151376] |
Chr12:49053503 [GRCh38]
Chr12:49447286 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12820C>T (p.Leu4274Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002023861] |
Chr12:49031885 [GRCh38]
Chr12:49425668 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14400G>A (p.Met4800Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001969683] |
Chr12:49028124 [GRCh38]
Chr12:49421907 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13414G>T (p.Val4472Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001970332] |
Chr12:49031291 [GRCh38]
Chr12:49425074 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15254A>G (p.His5085Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001908684] |
Chr12:49026712 [GRCh38]
Chr12:49420495 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15634G>A (p.Ala5212Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001908766] |
Chr12:49026332 [GRCh38]
Chr12:49420115 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12902_12903insA (p.Leu4302fs) |
insertion |
Kabuki syndrome 1 [RCV002052104] |
Chr12:49031802..49031803 [GRCh38]
Chr12:49425585..49425586 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14585C>G (p.Ala4862Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001910666] |
Chr12:49027861 [GRCh38]
Chr12:49421644 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8312G>A (p.Arg2771Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001968487] |
Chr12:49039276 [GRCh38]
Chr12:49433059 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11624A>C (p.His3875Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001913512] |
Chr12:49033081 [GRCh38]
Chr12:49426864 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6593C>A (p.Pro2198His) |
single nucleotide variant |
Kabuki syndrome [RCV001895493] |
Chr12:49041177 [GRCh38]
Chr12:49434960 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12422T>C (p.Leu4141Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002003077] |
Chr12:49032283 [GRCh38]
Chr12:49426066 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12461G>A (p.Gly4154Asp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001843874] |
Chr12:49032244 [GRCh38]
Chr12:49426027 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7124C>G (p.Thr2375Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001911162] |
Chr12:49040646 [GRCh38]
Chr12:49434429 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6563G>A (p.Arg2188His) |
single nucleotide variant |
Kabuki syndrome [RCV001948708] |
Chr12:49041207 [GRCh38]
Chr12:49434990 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13931C>T (p.Pro4644Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002041148] |
Chr12:49030348 [GRCh38]
Chr12:49424131 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12735G>A (p.Glu4245=) |
single nucleotide variant |
Kabuki syndrome [RCV002006985] |
Chr12:49031970 [GRCh38]
Chr12:49425753 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1362G>T (p.Glu454Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001967911] |
Chr12:49052321 [GRCh38]
Chr12:49446104 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001837294]|Kabuki syndrome [RCV001869844] |
Chr12:49027195 [GRCh38]
Chr12:49420978 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14075G>T (p.Arg4692Met) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002052078] |
Chr12:49029401 [GRCh38]
Chr12:49423184 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9295C>T (p.Arg3099Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001946307] |
Chr12:49038061 [GRCh38]
Chr12:49431844 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.92C>T (p.Ser31Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002003220] |
Chr12:49054984 [GRCh38]
Chr12:49448767 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15307A>C (p.Ser5103Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001911531] |
Chr12:49026659 [GRCh38]
Chr12:49420442 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11006G>A (p.Gly3669Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001870834] |
Chr12:49033699 [GRCh38]
Chr12:49427482 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15658C>T (p.Arg5220Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001894081] |
Chr12:49026308 [GRCh38]
Chr12:49420091 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12686_12691dup (p.Arg4229_Gln4230dup) |
duplication |
Kabuki syndrome [RCV002043295] |
Chr12:49032013..49032014 [GRCh38]
Chr12:49425796..49425797 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6997C>T (p.Pro2333Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003911097]|Kabuki syndrome [RCV001947684] |
Chr12:49040773 [GRCh38]
Chr12:49434556 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12964C>T (p.Gln4322Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001982947] |
Chr12:49031741 [GRCh38]
Chr12:49425524 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13034A>G (p.Lys4345Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001894879] |
Chr12:49031671 [GRCh38]
Chr12:49425454 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.702dup (p.Pro235fs) |
duplication |
Kabuki syndrome [RCV002007380] |
Chr12:49053612..49053613 [GRCh38]
Chr12:49447395..49447396 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7831C>T (p.Arg2611Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001913232]|not provided [RCV002307788] |
Chr12:49039939 [GRCh38]
Chr12:49433722 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12309_12310delinsTT (p.Gln4103_Gln4104delinsHisTer) |
indel |
Kabuki syndrome [RCV002007137] |
Chr12:49032395..49032396 [GRCh38]
Chr12:49426178..49426179 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13384C>G (p.Leu4462Val) |
single nucleotide variant |
Kabuki syndrome [RCV001871082] |
Chr12:49031321 [GRCh38]
Chr12:49425104 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9500G>T (p.Arg3167Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001908015] |
Chr12:49037856 [GRCh38]
Chr12:49431639 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002034773]|Vein of Galen aneurysmal malformation [RCV001849638] |
Chr12:49026277 [GRCh38]
Chr12:49420060 [GRCh37]
Chr12:12q13.12 |
pathogenic|association |
| NM_003482.4(KMT2D):c.9822GCA[1] (p.Gln3280_Gln3282del) |
microsatellite |
Kabuki syndrome [RCV001892709] |
Chr12:49037523..49037531 [GRCh38]
Chr12:49431306..49431314 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9824dup (p.Gln3276fs) |
duplication |
Kabuki syndrome [RCV002002370] |
Chr12:49037531..49037532 [GRCh38]
Chr12:49431314..49431315 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1591G>A (p.Ala531Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001964722] |
Chr12:49052092 [GRCh38]
Chr12:49445875 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6089A>G (p.Asn2030Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001894783] |
Chr12:49042109 [GRCh38]
Chr12:49435892 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10193T>A (p.Met3398Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002042566] |
Chr12:49037163 [GRCh38]
Chr12:49430946 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3089A>G (p.His1030Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001983975] |
Chr12:49050499 [GRCh38]
Chr12:49444282 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3673C>T (p.Pro1225Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001964885] |
Chr12:49049915 [GRCh38]
Chr12:49443698 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11674C>G (p.Gln3892Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001985692] |
Chr12:49033031 [GRCh38]
Chr12:49426814 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8470A>G (p.Thr2824Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002042704] |
Chr12:49038886 [GRCh38]
Chr12:49432669 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.482A>G (p.Asp161Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001948242] |
Chr12:49054335 [GRCh38]
Chr12:49448118 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3898A>G (p.Ile1300Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002227565]|Kabuki syndrome [RCV001911419] |
Chr12:49049690 [GRCh38]
Chr12:49443473 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5210C>T (p.Ala1737Val) |
single nucleotide variant |
Kabuki syndrome [RCV001891344] |
Chr12:49043977 [GRCh38]
Chr12:49437760 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11926G>A (p.Gly3976Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001891384] |
Chr12:49032779 [GRCh38]
Chr12:49426562 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5692G>A (p.Val1898Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001894322] |
Chr12:49042831 [GRCh38]
Chr12:49436614 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6354_6356del (p.Ala2121del) |
deletion |
Kabuki syndrome [RCV002023521] |
Chr12:49041414..49041416 [GRCh38]
Chr12:49435197..49435199 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8722C>T (p.Pro2908Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001913359] |
Chr12:49038634 [GRCh38]
Chr12:49432417 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3807C>G (p.Asp1269Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001964765] |
Chr12:49049781 [GRCh38]
Chr12:49443564 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1687A>G (p.Thr563Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001892826] |
Chr12:49051996 [GRCh38]
Chr12:49445779 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6850G>T (p.Ala2284Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001892262] |
Chr12:49040920 [GRCh38]
Chr12:49434703 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6443G>T (p.Gly2148Val) |
single nucleotide variant |
Kabuki syndrome [RCV001983557] |
Chr12:49041327 [GRCh38]
Chr12:49435110 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7045C>T (p.Pro2349Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001893080] |
Chr12:49040725 [GRCh38]
Chr12:49434508 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.16093C>G (p.Gln5365Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002005935] |
Chr12:49022835 [GRCh38]
Chr12:49416618 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14765C>A (p.Ala4922Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002041810] |
Chr12:49027201 [GRCh38]
Chr12:49420984 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6742C>T (p.Arg2248Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002561480]|Kabuki syndrome [RCV001984579] |
Chr12:49041028 [GRCh38]
Chr12:49434811 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12545G>T (p.Gly4182Val) |
single nucleotide variant |
Kabuki syndrome [RCV003772346]|not provided [RCV001824526] |
Chr12:49032160 [GRCh38]
Chr12:49425943 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV001837222] |
Chr12:49048038 [GRCh38]
Chr12:49441821 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14644-1G>A |
single nucleotide variant |
not provided [RCV001829312] |
Chr12:49027323 [GRCh38]
Chr12:49421106 [GRCh37]
Chr12:12q13.12 |
not provided |
| NM_003482.4(KMT2D):c.8366+6G>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV002227578]|Kabuki syndrome [RCV002036982] |
Chr12:49039216 [GRCh38]
Chr12:49432999 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3029G>A (p.Gly1010Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002000292] |
Chr12:49050559 [GRCh38]
Chr12:49444342 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5247T>G (p.Asp1749Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002037582] |
Chr12:49043940 [GRCh38]
Chr12:49437723 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15767C>G (p.Thr5256Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001887190] |
Chr12:49026199 [GRCh38]
Chr12:49419982 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10730A>G (p.Gln3577Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001887639] |
Chr12:49034077 [GRCh38]
Chr12:49427860 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1134C>T (p.Gly378=) |
single nucleotide variant |
Kabuki syndrome [RCV001943866] |
Chr12:49052688 [GRCh38]
Chr12:49446471 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11223_11225del (p.Gln3745del) |
deletion |
Kabuki syndrome [RCV001938795] |
Chr12:49033480..49033482 [GRCh38]
Chr12:49427263..49427265 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.673+1del |
deletion |
Kabuki syndrome [RCV001963285] |
Chr12:49053977 [GRCh38]
Chr12:49447760 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3032C>T (p.Pro1011Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001943966] |
Chr12:49050556 [GRCh38]
Chr12:49444339 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2278_2331del (p.His760_Pro777del) |
deletion |
Kabuki syndrome [RCV001974028] |
Chr12:49051352..49051405 [GRCh38]
Chr12:49445135..49445188 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8623G>T (p.Ala2875Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001995198] |
Chr12:49038733 [GRCh38]
Chr12:49432516 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8546C>T (p.Ala2849Val) |
single nucleotide variant |
Kabuki syndrome [RCV001938380] |
Chr12:49038810 [GRCh38]
Chr12:49432593 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12542C>G (p.Ser4181Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001885568] |
Chr12:49032163 [GRCh38]
Chr12:49425946 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4617A>G (p.Thr1539=) |
single nucleotide variant |
Kabuki syndrome [RCV002037663] |
Chr12:49046141 [GRCh38]
Chr12:49439924 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14583del (p.Asp4861fs) |
deletion |
Kabuki syndrome [RCV001962449] |
Chr12:49027863 [GRCh38]
Chr12:49421646 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7578A>G (p.Ala2526=) |
single nucleotide variant |
Kabuki syndrome [RCV001887695] |
Chr12:49040192 [GRCh38]
Chr12:49433975 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2579T>C (p.Leu860Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001942725] |
Chr12:49051104 [GRCh38]
Chr12:49444887 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10153A>G (p.Met3385Val) |
single nucleotide variant |
Kabuki syndrome [RCV001940278] |
Chr12:49037203 [GRCh38]
Chr12:49430986 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9584T>C (p.Leu3195Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001887339] |
Chr12:49037772 [GRCh38]
Chr12:49431555 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13001C>A (p.Ala4334Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001899419] |
Chr12:49031704 [GRCh38]
Chr12:49425487 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12893C>T (p.Thr4298Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001905374]|not provided [RCV002222734] |
Chr12:49031812 [GRCh38]
Chr12:49425595 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10440+3A>G |
single nucleotide variant |
Kabuki syndrome [RCV001980261] |
Chr12:49034579 [GRCh38]
Chr12:49428362 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3025G>C (p.Val1009Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001925816] |
Chr12:49050563 [GRCh38]
Chr12:49444346 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8936T>C (p.Leu2979Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002037206] |
Chr12:49038420 [GRCh38]
Chr12:49432203 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10690C>T (p.Leu3564Phe) |
single nucleotide variant |
Kabuki syndrome [RCV001962565] |
Chr12:49034117 [GRCh38]
Chr12:49427900 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.12995C>T (p.Thr4332Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001963425] |
Chr12:49031710 [GRCh38]
Chr12:49425493 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3403C>T (p.Pro1135Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002001288] |
Chr12:49050185 [GRCh38]
Chr12:49443968 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12317G>A (p.Ser4106Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002031127] |
Chr12:49032388 [GRCh38]
Chr12:49426171 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.44C>T (p.Pro15Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001995722] |
Chr12:49055281 [GRCh38]
Chr12:49449064 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11568GCA[8] (p.Gln3861_Gln3863dup) |
microsatellite |
Kabuki syndrome [RCV001884212] |
Chr12:49033122..49033123 [GRCh38]
Chr12:49426905..49426906 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12724C>T (p.Pro4242Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001884863] |
Chr12:49031981 [GRCh38]
Chr12:49425764 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11254G>A (p.Ala3752Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002031319] |
Chr12:49033451 [GRCh38]
Chr12:49427234 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11570A>T (p.Gln3857Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003892980]|Kabuki syndrome [RCV001962577] |
Chr12:49033135 [GRCh38]
Chr12:49426918 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6650G>A (p.Arg2217His) |
single nucleotide variant |
Kabuki syndrome [RCV001887809] |
Chr12:49041120 [GRCh38]
Chr12:49434903 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7342G>A (p.Asp2448Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002048495] |
Chr12:49040428 [GRCh38]
Chr12:49434211 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14593C>T (p.Pro4865Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001974479] |
Chr12:49027853 [GRCh38]
Chr12:49421636 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9913A>G (p.Ser3305Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001962609] |
Chr12:49037443 [GRCh38]
Chr12:49431226 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15547C>G (p.Leu5183Val) |
single nucleotide variant |
Kabuki syndrome [RCV001963470] |
Chr12:49026419 [GRCh38]
Chr12:49420202 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003893081]|Kabuki syndrome 1 [RCV003388082]|Kabuki syndrome [RCV002017095]|not provided [RCV003395357] |
Chr12:49050133 [GRCh38]
Chr12:49443916 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8930A>G (p.Asn2977Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001996521] |
Chr12:49038426 [GRCh38]
Chr12:49432209 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12506G>T (p.Gly4169Val) |
single nucleotide variant |
Kabuki syndrome [RCV001906360] |
Chr12:49032199 [GRCh38]
Chr12:49425982 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6455G>T (p.Gly2152Val) |
single nucleotide variant |
Kabuki syndrome [RCV002033810] |
Chr12:49041315 [GRCh38]
Chr12:49435098 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6896A>G (p.Tyr2299Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002009640] |
Chr12:49040874 [GRCh38]
Chr12:49434657 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11799GCA[1] (p.Gln3939del) |
microsatellite |
Kabuki syndrome [RCV002051512] |
Chr12:49032901..49032903 [GRCh38]
Chr12:49426684..49426686 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9563C>T (p.Thr3188Met) |
single nucleotide variant |
Kabuki syndrome [RCV002015106] |
Chr12:49037793 [GRCh38]
Chr12:49431576 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13564C>T (p.Pro4522Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002039170] |
Chr12:49031000 [GRCh38]
Chr12:49424783 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3570A>G (p.Ala1190=) |
single nucleotide variant |
Kabuki syndrome [RCV001994633] |
Chr12:49050018 [GRCh38]
Chr12:49443801 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15758T>G (p.Leu5253Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002001019] |
Chr12:49026208 [GRCh38]
Chr12:49419991 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13157C>T (p.Thr4386Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001930503] |
Chr12:49031548 [GRCh38]
Chr12:49425331 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8801C>T (p.Pro2934Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001878271] |
Chr12:49038555 [GRCh38]
Chr12:49432338 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6446C>T (p.Ser2149Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002561503]|Kabuki syndrome [RCV001955119] |
Chr12:49041324 [GRCh38]
Chr12:49435107 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10426G>C (p.Ala3476Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002050215] |
Chr12:49034596 [GRCh38]
Chr12:49428379 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7932G>T (p.Lys2644Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001941012] |
Chr12:49039838 [GRCh38]
Chr12:49433621 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.273G>A (p.Trp91Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002000093] |
Chr12:49054655 [GRCh38]
Chr12:49448438 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5084-7C>G |
single nucleotide variant |
Kabuki syndrome [RCV002037387] |
Chr12:49044311 [GRCh38]
Chr12:49438094 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1640C>T (p.Pro547Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002048950] |
Chr12:49052043 [GRCh38]
Chr12:49445826 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4900G>C (p.Ala1634Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001887043] |
Chr12:49044807 [GRCh38]
Chr12:49438590 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14782C>A (p.Pro4928Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001886507] |
Chr12:49027184 [GRCh38]
Chr12:49420967 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14394C>T (p.Gly4798=) |
single nucleotide variant |
KMT2D-related condition [RCV003958437]|Kabuki syndrome [RCV001982585] |
Chr12:49028130 [GRCh38]
Chr12:49421913 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10988C>T (p.Ala3663Val) |
single nucleotide variant |
Kabuki syndrome [RCV001943007] |
Chr12:49033717 [GRCh38]
Chr12:49427500 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12143C>T (p.Pro4048Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001943017] |
Chr12:49032562 [GRCh38]
Chr12:49426345 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4006A>G (p.Ile1336Val) |
single nucleotide variant |
Kabuki syndrome [RCV001943639] |
Chr12:49049119 [GRCh38]
Chr12:49442902 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13784T>G (p.Phe4595Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001999637] |
Chr12:49030656 [GRCh38]
Chr12:49424439 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11537G>T (p.Gly3846Val) |
single nucleotide variant |
Kabuki syndrome [RCV001886539] |
Chr12:49033168 [GRCh38]
Chr12:49426951 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11002C>G (p.Pro3668Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001943814] |
Chr12:49033703 [GRCh38]
Chr12:49427486 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5658G>A (p.Met1886Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001980188] |
Chr12:49042865 [GRCh38]
Chr12:49436648 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13840-20C>A |
single nucleotide variant |
Kabuki syndrome [RCV001972529] |
Chr12:49030459 [GRCh38]
Chr12:49424242 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4419G>T (p.Trp1473Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001978481] |
Chr12:49046424 [GRCh38]
Chr12:49440207 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6849G>C (p.Lys2283Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002046652] |
Chr12:49040921 [GRCh38]
Chr12:49434704 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7595C>T (p.Ser2532Phe) |
single nucleotide variant |
Kabuki syndrome [RCV001934869]|not provided [RCV002272510] |
Chr12:49040175 [GRCh38]
Chr12:49433958 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NC_000012.11:g.(?_49443445)_(49449107_?)dup |
duplication |
Kabuki syndrome [RCV001920306] |
Chr12:49443445..49449107 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5655G>T (p.Lys1885Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001951663] |
Chr12:49042868 [GRCh38]
Chr12:49436651 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5644+5G>T |
single nucleotide variant |
Kabuki syndrome [RCV002049417] |
Chr12:49043071 [GRCh38]
Chr12:49436854 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2675C>G (p.Ser892Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002026911] |
Chr12:49051008 [GRCh38]
Chr12:49444791 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3871C>T (p.Arg1291Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002010314] |
Chr12:49049717 [GRCh38]
Chr12:49443500 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5939C>G (p.Thr1980Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001899138] |
Chr12:49042259 [GRCh38]
Chr12:49436042 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8305G>A (p.Asp2769Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001992218] |
Chr12:49039283 [GRCh38]
Chr12:49433066 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.16040C>T (p.Thr5347Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001917825] |
Chr12:49024590 [GRCh38]
Chr12:49418373 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2816T>G (p.Leu939Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001902521] |
Chr12:49050772 [GRCh38]
Chr12:49444555 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11379A>G (p.Gln3793=) |
single nucleotide variant |
Kabuki syndrome [RCV001881666] |
Chr12:49033326 [GRCh38]
Chr12:49427109 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14075+13C>T |
single nucleotide variant |
Kabuki syndrome [RCV002016284] |
Chr12:49029388 [GRCh38]
Chr12:49423171 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7022_7027dup (p.Gln2341_Ser2342dup) |
duplication |
Kabuki syndrome [RCV001922493] |
Chr12:49040742..49040743 [GRCh38]
Chr12:49434525..49434526 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7112C>T (p.Pro2371Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001951948] |
Chr12:49040658 [GRCh38]
Chr12:49434441 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1000A>G (p.Asn334Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003968689]|Kabuki syndrome [RCV002027173]|not provided [RCV003312037] |
Chr12:49053027 [GRCh38]
Chr12:49446810 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11359dup (p.Val3787fs) |
duplication |
Kabuki syndrome [RCV001917951] |
Chr12:49033345..49033346 [GRCh38]
Chr12:49427128..49427129 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15077C>T (p.Pro5026Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003978431]|Kabuki syndrome [RCV001953204] |
Chr12:49026889 [GRCh38]
Chr12:49420672 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2055G>T (p.Glu685Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001993723] |
Chr12:49051628 [GRCh38]
Chr12:49445411 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4584-6C>G |
single nucleotide variant |
Kabuki syndrome [RCV001953225] |
Chr12:49046180 [GRCh38]
Chr12:49439963 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6572C>T (p.Thr2191Met) |
single nucleotide variant |
Kabuki syndrome [RCV001918094] |
Chr12:49041198 [GRCh38]
Chr12:49434981 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14138G>C (p.Ser4713Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001919497] |
Chr12:49029174 [GRCh38]
Chr12:49422957 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6950G>T (p.Gly2317Val) |
single nucleotide variant |
Kabuki syndrome [RCV001995087] |
Chr12:49040820 [GRCh38]
Chr12:49434603 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12923C>T (p.Thr4308Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001954455] |
Chr12:49031782 [GRCh38]
Chr12:49425565 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11905C>G (p.Gln3969Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001899405] |
Chr12:49032800 [GRCh38]
Chr12:49426583 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5008G>A (p.Val1670Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001935882] |
Chr12:49044478 [GRCh38]
Chr12:49438261 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10745G>A (p.Arg3582Gln) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003152638]|Kabuki syndrome [RCV001922541]|not provided [RCV002509715] |
Chr12:49033960 [GRCh38]
Chr12:49427743 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.2754C>T (p.Ser918=) |
single nucleotide variant |
Kabuki syndrome [RCV001950817] |
Chr12:49050929 [GRCh38]
Chr12:49444712 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14470G>A (p.Ala4824Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002026083] |
Chr12:49028054 [GRCh38]
Chr12:49421837 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3895C>T (p.Arg1299Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003407843]|Kabuki syndrome [RCV001876758] |
Chr12:49049693 [GRCh38]
Chr12:49443476 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2862G>T (p.Leu954Phe) |
single nucleotide variant |
Kabuki syndrome [RCV001917081] |
Chr12:49050726 [GRCh38]
Chr12:49444509 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14236C>T (p.Arg4746Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003892985]|Kabuki syndrome [RCV001934155] |
Chr12:49029076 [GRCh38]
Chr12:49422859 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.106C>T (p.Pro36Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002543463]|Kabuki syndrome [RCV002049927] |
Chr12:49054970 [GRCh38]
Chr12:49448753 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10072A>G (p.Ser3358Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001898434] |
Chr12:49037284 [GRCh38]
Chr12:49431067 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2334C>G (p.Cys778Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003416529]|Kabuki syndrome [RCV001881229] |
Chr12:49051349 [GRCh38]
Chr12:49445132 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13458G>T (p.Glu4486Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001936009] |
Chr12:49031247 [GRCh38]
Chr12:49425030 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16338+5G>A |
single nucleotide variant |
KMT2D-related condition [RCV003913437]|Kabuki syndrome [RCV001919726] |
Chr12:49022585 [GRCh38]
Chr12:49416368 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13010C>G (p.Pro4337Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003407834]|Kabuki syndrome [RCV002030052] |
Chr12:49031695 [GRCh38]
Chr12:49425478 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5786G>A (p.Gly1929Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002011065] |
Chr12:49042642 [GRCh38]
Chr12:49436425 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2872G>A (p.Glu958Lys) |
single nucleotide variant |
Kabuki syndrome [RCV001977093] |
Chr12:49050716 [GRCh38]
Chr12:49444499 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6413C>G (p.Ser2138Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002015876] |
Chr12:49041357 [GRCh38]
Chr12:49435140 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2596A>G (p.Lys866Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001864985] |
Chr12:49051087 [GRCh38]
Chr12:49444870 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6769G>A (p.Val2257Met) |
single nucleotide variant |
KMT2D-related condition [RCV003913461]|Kabuki syndrome [RCV001931800] |
Chr12:49041001 [GRCh38]
Chr12:49434784 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9413C>T (p.Thr3138Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001931841] |
Chr12:49037943 [GRCh38]
Chr12:49431726 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6241dup (p.Glu2081fs) |
duplication |
Kabuki syndrome [RCV001879391] |
Chr12:49041528..49041529 [GRCh38]
Chr12:49435311..49435312 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11977C>G (p.Gln3993Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002028883] |
Chr12:49032728 [GRCh38]
Chr12:49426511 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4866C>T (p.Gly1622=) |
single nucleotide variant |
Kabuki syndrome [RCV001878226] |
Chr12:49044841 [GRCh38]
Chr12:49438624 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6862AAG[1] (p.Lys2289del) |
microsatellite |
Kabuki syndrome [RCV001879677] |
Chr12:49040903..49040905 [GRCh38]
Chr12:49434686..49434688 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12919C>T (p.Pro4307Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002016570] |
Chr12:49031786 [GRCh38]
Chr12:49425569 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4964-10C>G |
single nucleotide variant |
Kabuki syndrome [RCV001897302] |
Chr12:49044532 [GRCh38]
Chr12:49438315 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003893087]|Kabuki syndrome [RCV002046281]|not provided [RCV003134367] |
Chr12:49027130 [GRCh38]
Chr12:49420913 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.970C>T (p.Arg324Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002548029]|KMT2D-related condition [RCV003416512]|Kabuki syndrome [RCV001931857] |
Chr12:49053057 [GRCh38]
Chr12:49446840 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8047C>T (p.Arg2683Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002011116] |
Chr12:49039617 [GRCh38]
Chr12:49433400 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16013G>A (p.Cys5338Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV001951215] |
Chr12:49024617 [GRCh38]
Chr12:49418400 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5524G>A (p.Asp1842Asn) |
single nucleotide variant |
Kabuki syndrome [RCV001875465]|not provided [RCV003389885] |
Chr12:49043372 [GRCh38]
Chr12:49437155 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11401A>T (p.Met3801Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001904167] |
Chr12:49033304 [GRCh38]
Chr12:49427087 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6845G>C (p.Arg2282Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001870029] |
Chr12:49040925 [GRCh38]
Chr12:49434708 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1531C>T (p.Pro511Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002047779] |
Chr12:49052152 [GRCh38]
Chr12:49445935 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12523C>G (p.Pro4175Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001995442] |
Chr12:49032182 [GRCh38]
Chr12:49425965 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3910C>T (p.Arg1304Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001903552] |
Chr12:49049215 [GRCh38]
Chr12:49442998 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3911G>A (p.Arg1304His) |
single nucleotide variant |
Kabuki syndrome [RCV001875710] |
Chr12:49049214 [GRCh38]
Chr12:49442997 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002471194]|Kabuki syndrome [RCV001955242] |
Chr12:49032652 [GRCh38]
Chr12:49426435 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6935C>T (p.Ser2312Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002561468]|KMT2D-related condition [RCV003892979]|Kabuki syndrome [RCV001952721] |
Chr12:49040835 [GRCh38]
Chr12:49434618 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10740+1G>A |
single nucleotide variant |
Kabuki syndrome [RCV001975051] |
Chr12:49034066 [GRCh38]
Chr12:49427849 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9655G>A (p.Ala3219Thr) |
single nucleotide variant |
Kabuki syndrome [RCV001900366] |
Chr12:49037701 [GRCh38]
Chr12:49431484 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002484410]|Kabuki syndrome [RCV001903608] |
Chr12:49049716 [GRCh38]
Chr12:49443499 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5431G>A (p.Gly1811Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001940175]|not provided [RCV003134233] |
Chr12:49043671 [GRCh38]
Chr12:49437454 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5782+4_5782+6del |
deletion |
Kabuki syndrome [RCV002029360] |
Chr12:49042735..49042737 [GRCh38]
Chr12:49436518..49436520 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7526A>G (p.Lys2509Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003418241]|Kabuki syndrome 1 [RCV002479560]|Kabuki syndrome [RCV001996971] |
Chr12:49040244 [GRCh38]
Chr12:49434027 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.955-10del |
deletion |
Kabuki syndrome [RCV002019359] |
Chr12:49053082 [GRCh38]
Chr12:49446865 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9616G>A (p.Gly3206Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001907503] |
Chr12:49037740 [GRCh38]
Chr12:49431523 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3571C>T (p.Pro1191Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001931062] |
Chr12:49050017 [GRCh38]
Chr12:49443800 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10231+3A>G |
single nucleotide variant |
Kabuki syndrome [RCV001919095] |
Chr12:49037122 [GRCh38]
Chr12:49430905 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3983G>A (p.Arg1328Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001905790] |
Chr12:49049142 [GRCh38]
Chr12:49442925 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1871C>T (p.Ser624Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001925071] |
Chr12:49051812 [GRCh38]
Chr12:49445595 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9870C>T (p.Gly3290=) |
single nucleotide variant |
Kabuki syndrome [RCV002020042] |
Chr12:49037486 [GRCh38]
Chr12:49431269 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.688G>A (p.Ala230Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003402043]|Kabuki syndrome [RCV002020049] |
Chr12:49053627 [GRCh38]
Chr12:49447410 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11174A>C (p.Gln3725Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001989827] |
Chr12:49033531 [GRCh38]
Chr12:49427314 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12963_12974del (p.Gln4322_Ser4325del) |
deletion |
Kabuki syndrome [RCV001992467] |
Chr12:49031731..49031742 [GRCh38]
Chr12:49425514..49425525 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1298C>T (p.Pro433Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002017684] |
Chr12:49052385 [GRCh38]
Chr12:49446168 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2857C>T (p.Pro953Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001940266] |
Chr12:49050731 [GRCh38]
Chr12:49444514 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6323C>T (p.Pro2108Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001998810]|not provided [RCV003395335] |
Chr12:49041447 [GRCh38]
Chr12:49435230 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9377G>T (p.Gly3126Val) |
single nucleotide variant |
Kabuki syndrome [RCV002036678] |
Chr12:49037979 [GRCh38]
Chr12:49431762 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.365A>T (p.Glu122Val) |
single nucleotide variant |
Kabuki syndrome [RCV002028346] |
Chr12:49054563 [GRCh38]
Chr12:49448346 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10471C>G (p.Arg3491Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001919257] |
Chr12:49034446 [GRCh38]
Chr12:49428229 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7031G>A (p.Gly2344Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001920627] |
Chr12:49040739 [GRCh38]
Chr12:49434522 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3028G>A (p.Gly1010Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003911058]|Kabuki syndrome [RCV001880460] |
Chr12:49050560 [GRCh38]
Chr12:49444343 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7016_7043del (p.Glu2339fs) |
deletion |
Kabuki syndrome [RCV001994783] |
Chr12:49040727..49040754 [GRCh38]
Chr12:49434510..49434537 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1954C>T (p.Arg652Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001959783] |
Chr12:49051729 [GRCh38]
Chr12:49445512 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10185_10202dup (p.Met3398_Ala3403dup) |
duplication |
Kabuki syndrome [RCV001902945] |
Chr12:49037153..49037154 [GRCh38]
Chr12:49430936..49430937 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9260G>A (p.Arg3087Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003948838]|Kabuki syndrome [RCV001982430] |
Chr12:49038096 [GRCh38]
Chr12:49431879 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.956C>T (p.Ala319Val) |
single nucleotide variant |
Kabuki syndrome [RCV001991387] |
Chr12:49053071 [GRCh38]
Chr12:49446854 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2011T>A (p.Leu671Met) |
single nucleotide variant |
Kabuki syndrome [RCV002032008] |
Chr12:49051672 [GRCh38]
Chr12:49445455 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13723C>A (p.Leu4575Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001904792] |
Chr12:49030717 [GRCh38]
Chr12:49424500 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3700G>C (p.Gly1234Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001923504] |
Chr12:49049888 [GRCh38]
Chr12:49443671 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10567A>G (p.Met3523Val) |
single nucleotide variant |
Kabuki syndrome [RCV001998999] |
Chr12:49034240 [GRCh38]
Chr12:49428023 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15536G>C (p.Arg5179Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002026116] |
Chr12:49026430 [GRCh38]
Chr12:49420213 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12901G>A (p.Val4301Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001934327] |
Chr12:49031804 [GRCh38]
Chr12:49425587 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3418A>G (p.Thr1140Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001979005] |
Chr12:49050170 [GRCh38]
Chr12:49443953 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9101A>G (p.Asn3034Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001924154] |
Chr12:49038255 [GRCh38]
Chr12:49432038 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3205G>C (p.Glu1069Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001907158] |
Chr12:49050383 [GRCh38]
Chr12:49444166 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6986_6987insT (p.Leu2331fs) |
insertion |
Kabuki syndrome [RCV001952420] |
Chr12:49040783..49040784 [GRCh38]
Chr12:49434566..49434567 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5797G>T (p.Gly1933Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001901057] |
Chr12:49042631 [GRCh38]
Chr12:49436414 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13364G>A (p.Arg4455His) |
single nucleotide variant |
Kabuki syndrome [RCV001917172] |
Chr12:49031341 [GRCh38]
Chr12:49425124 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14926C>T (p.Pro4976Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001919837] |
Chr12:49027040 [GRCh38]
Chr12:49420823 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5618C>T (p.Ser1873Phe) |
single nucleotide variant |
Kabuki syndrome [RCV001903201] |
Chr12:49043102 [GRCh38]
Chr12:49436885 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11807AGC[1] (p.Gln3937_Gln3939del) |
microsatellite |
Kabuki syndrome [RCV001923573] |
Chr12:49032887..49032895 [GRCh38]
Chr12:49426670..49426678 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4723A>G (p.Met1575Val) |
single nucleotide variant |
Kabuki syndrome [RCV001899842] |
Chr12:49045938 [GRCh38]
Chr12:49439721 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9902G>C (p.Gly3301Ala) |
single nucleotide variant |
Kabuki syndrome [RCV001940020] |
Chr12:49037454 [GRCh38]
Chr12:49431237 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3338A>G (p.Asp1113Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001940045] |
Chr12:49050250 [GRCh38]
Chr12:49444033 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3868C>T (p.Arg1290Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002019729] |
Chr12:49049720 [GRCh38]
Chr12:49443503 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6485A>T (p.Lys2162Met) |
single nucleotide variant |
Kabuki syndrome [RCV001972122] |
Chr12:49041285 [GRCh38]
Chr12:49435068 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2196_2267del (p.Gln733_Pro756del) |
deletion |
Kabuki syndrome [RCV001952581] |
Chr12:49051416..49051487 [GRCh38]
Chr12:49445199..49445270 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1363G>T (p.Glu455Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001958846] |
Chr12:49052320 [GRCh38]
Chr12:49446103 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4932C>G (p.Asp1644Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001883591] |
Chr12:49044775 [GRCh38]
Chr12:49438558 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4808T>C (p.Leu1603Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001925445] |
Chr12:49044899 [GRCh38]
Chr12:49438682 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11807AGC[3] (p.Gln3939del) |
microsatellite |
Kabuki syndrome [RCV001940613] |
Chr12:49032887..49032889 [GRCh38]
Chr12:49426670..49426672 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3049A>G (p.Met1017Val) |
single nucleotide variant |
Kabuki syndrome [RCV001875479] |
Chr12:49050539 [GRCh38]
Chr12:49444322 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.43C>T (p.Pro15Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001952643] |
Chr12:49055282 [GRCh38]
Chr12:49449065 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13481A>C (p.Lys4494Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002009920] |
Chr12:49031224 [GRCh38]
Chr12:49425007 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2703_2726del (p.Glu902_Ser909del) |
deletion |
Kabuki syndrome [RCV002015823] |
Chr12:49050957..49050980 [GRCh38]
Chr12:49444740..49444763 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1979C>T (p.Ser660Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001905569] |
Chr12:49051704 [GRCh38]
Chr12:49445487 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13097C>T (p.Ala4366Val) |
single nucleotide variant |
Kabuki syndrome [RCV001980428] |
Chr12:49031608 [GRCh38]
Chr12:49425391 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11645C>T (p.Ser3882Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002019794] |
Chr12:49033060 [GRCh38]
Chr12:49426843 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.866T>A (p.Leu289Ter) |
single nucleotide variant |
Kabuki syndrome [RCV001907332] |
Chr12:49053295 [GRCh38]
Chr12:49447078 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8369A>T (p.Gln2790Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003968611]|Kabuki syndrome [RCV001897487] |
Chr12:49038987 [GRCh38]
Chr12:49432770 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1847C>A (p.Pro616His) |
single nucleotide variant |
Kabuki syndrome [RCV001918771] |
Chr12:49051836 [GRCh38]
Chr12:49445619 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3699G>C (p.Glu1233Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001930712] |
Chr12:49049889 [GRCh38]
Chr12:49443672 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11150A>G (p.Gln3717Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002027892] |
Chr12:49033555 [GRCh38]
Chr12:49427338 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.851A>G (p.Asn284Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002016929] |
Chr12:49053310 [GRCh38]
Chr12:49447093 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11110C>G (p.Leu3704Val) |
single nucleotide variant |
Kabuki syndrome [RCV001905641] |
Chr12:49033595 [GRCh38]
Chr12:49427378 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12780A>T (p.Gln4260His) |
single nucleotide variant |
Kabuki syndrome [RCV001866975] |
Chr12:49031925 [GRCh38]
Chr12:49425708 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3237_3238delinsCC (p.Glu1080Gln) |
indel |
Kabuki syndrome 1 [RCV002503506]|Kabuki syndrome [RCV001917593] |
Chr12:49050350..49050351 [GRCh38]
Chr12:49444133..49444134 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12859C>T (p.Pro4287Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003407844]|Kabuki syndrome [RCV001870226] |
Chr12:49031846 [GRCh38]
Chr12:49425629 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8386C>G (p.Gln2796Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001976343] |
Chr12:49038970 [GRCh38]
Chr12:49432753 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3699G>T (p.Glu1233Asp) |
single nucleotide variant |
Kabuki syndrome [RCV001978340] |
Chr12:49049889 [GRCh38]
Chr12:49443672 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15397T>C (p.Cys5133Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002018131] |
Chr12:49026569 [GRCh38]
Chr12:49420352 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.12945A>G (p.Gln4315=) |
single nucleotide variant |
Kabuki syndrome [RCV002036014] |
Chr12:49031760 [GRCh38]
Chr12:49425543 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3647C>A (p.Ala1216Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003407956]|Kabuki syndrome [RCV001926157] |
Chr12:49049941 [GRCh38]
Chr12:49443724 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2501C>A (p.Ser834Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV001877312] |
Chr12:49051182 [GRCh38]
Chr12:49444965 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13274C>T (p.Ala4425Val) |
single nucleotide variant |
KMT2D-related condition [RCV003892907]|Kabuki syndrome [RCV001900260] |
Chr12:49031431 [GRCh38]
Chr12:49425214 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14132C>T (p.Pro4711Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002046620] |
Chr12:49029180 [GRCh38]
Chr12:49422963 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1028A>G (p.Tyr343Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001973848] |
Chr12:49052999 [GRCh38]
Chr12:49446782 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9611C>T (p.Pro3204Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001977495]|not provided [RCV002272550] |
Chr12:49037745 [GRCh38]
Chr12:49431528 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8764C>T (p.Arg2922Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002015136] |
Chr12:49038592 [GRCh38]
Chr12:49432375 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1168G>A (p.Val390Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002015153] |
Chr12:49052654 [GRCh38]
Chr12:49446437 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5687A>G (p.Lys1896Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002010414] |
Chr12:49042836 [GRCh38]
Chr12:49436619 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11880A>T (p.Gln3960His) |
single nucleotide variant |
Kabuki syndrome [RCV001866873] |
Chr12:49032825 [GRCh38]
Chr12:49426608 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7642A>G (p.Lys2548Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003170562]|Kabuki syndrome [RCV002047746] |
Chr12:49040128 [GRCh38]
Chr12:49433911 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8740C>T (p.His2914Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV001883582] |
Chr12:49038616 [GRCh38]
Chr12:49432399 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2119G>A (p.Ala707Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002010170] |
Chr12:49051564 [GRCh38]
Chr12:49445347 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13645G>A (p.Glu4549Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002484456]|Kabuki syndrome [RCV001916316] |
Chr12:49030919 [GRCh38]
Chr12:49424702 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8651T>C (p.Val2884Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002051219] |
Chr12:49038705 [GRCh38]
Chr12:49432488 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12667C>G (p.Gln4223Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001881943] |
Chr12:49032038 [GRCh38]
Chr12:49425821 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11442C>G (p.His3814Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001883394] |
Chr12:49033263 [GRCh38]
Chr12:49427046 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14998A>C (p.Ser5000Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002034088] |
Chr12:49026968 [GRCh38]
Chr12:49420751 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.278G>A (p.Arg93Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001920198] |
Chr12:49054650 [GRCh38]
Chr12:49448433 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12205C>T (p.Leu4069Phe) |
single nucleotide variant |
Kabuki syndrome [RCV001925641] |
Chr12:49032500 [GRCh38]
Chr12:49426283 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14891G>A (p.Arg4964His) |
single nucleotide variant |
Kabuki syndrome [RCV001925097] |
Chr12:49027075 [GRCh38]
Chr12:49420858 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14188T>C (p.Trp4730Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002036350] |
Chr12:49029124 [GRCh38]
Chr12:49422907 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1920_1946del (p.Glu641_Glu649del) |
deletion |
KMT2D-related condition [RCV003407906]|Kabuki syndrome [RCV001884825] |
Chr12:49051737..49051763 [GRCh38]
Chr12:49445520..49445546 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12085G>A (p.Val4029Ile) |
single nucleotide variant |
Kabuki syndrome [RCV001884153] |
Chr12:49032620 [GRCh38]
Chr12:49426403 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11159A>G (p.Gln3720Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001996670] |
Chr12:49033546 [GRCh38]
Chr12:49427329 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1306GAG[1] (p.Glu437del) |
microsatellite |
Kabuki syndrome 1 [RCV002484552]|Kabuki syndrome [RCV001923614] |
Chr12:49052372..49052374 [GRCh38]
Chr12:49446155..49446157 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5801A>G (p.Asn1934Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001997335] |
Chr12:49042627 [GRCh38]
Chr12:49436410 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.50C>G (p.Ala17Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001884268] |
Chr12:49055026 [GRCh38]
Chr12:49448809 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8564del (p.Ala2855fs) |
deletion |
Kabuki syndrome [RCV001906302] |
Chr12:49038792 [GRCh38]
Chr12:49432575 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7543C>T (p.Pro2515Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001925199] |
Chr12:49040227 [GRCh38]
Chr12:49434010 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4514T>G (p.Val1505Gly) |
single nucleotide variant |
Kabuki syndrome [RCV001960977] |
Chr12:49046329 [GRCh38]
Chr12:49440112 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15466T>C (p.Tyr5156His) |
single nucleotide variant |
Kabuki syndrome [RCV001979786] |
Chr12:49026500 [GRCh38]
Chr12:49420283 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6620C>T (p.Ala2207Val) |
single nucleotide variant |
KMT2D-related condition [RCV003407904]|Kabuki syndrome [RCV001884706] |
Chr12:49041150 [GRCh38]
Chr12:49434933 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8799A>C (p.Lys2933Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002018196] |
Chr12:49038557 [GRCh38]
Chr12:49432340 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15631G>A (p.Glu5211Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002034917] |
Chr12:49026335 [GRCh38]
Chr12:49420118 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11583_11591dup (p.Gln3861_Gln3863dup) |
duplication |
Kabuki syndrome [RCV001959648] |
Chr12:49033113..49033114 [GRCh38]
Chr12:49426896..49426897 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1112+20T>C |
single nucleotide variant |
Kabuki syndrome [RCV002018773] |
Chr12:49052895 [GRCh38]
Chr12:49446678 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13763A>G (p.Gln4588Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001907059] |
Chr12:49030677 [GRCh38]
Chr12:49424460 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2521T>G (p.Cys841Gly) |
single nucleotide variant |
KMT2D-related condition [RCV003402046]|Kabuki syndrome [RCV002025985] |
Chr12:49051162 [GRCh38]
Chr12:49444945 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5299A>G (p.Met1767Val) |
single nucleotide variant |
Kabuki syndrome [RCV002026048] |
Chr12:49043888 [GRCh38]
Chr12:49437671 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11162TGCAGC[1] (p.3721LQ[1]) |
microsatellite |
Kabuki syndrome [RCV001933002] |
Chr12:49033532..49033537 [GRCh38]
Chr12:49427315..49427320 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14625C>G (p.Ile4875Met) |
single nucleotide variant |
Kabuki syndrome [RCV001920211] |
Chr12:49027821 [GRCh38]
Chr12:49421604 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6354del (p.Ala2119fs) |
deletion |
Kabuki syndrome [RCV001880984] |
Chr12:49041416 [GRCh38]
Chr12:49435199 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6548A>G (p.Tyr2183Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001885881] |
Chr12:49041222 [GRCh38]
Chr12:49435005 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14485G>A (p.Glu4829Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002045937] |
Chr12:49028039 [GRCh38]
Chr12:49421822 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9003G>A (p.Lys3001=) |
single nucleotide variant |
Kabuki syndrome [RCV001974566] |
Chr12:49038353 [GRCh38]
Chr12:49432136 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1955G>A (p.Arg652His) |
single nucleotide variant |
Kabuki syndrome [RCV001954577] |
Chr12:49051728 [GRCh38]
Chr12:49445511 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8107_8109del (p.Glu2703del) |
deletion |
KMT2D-related condition [RCV003892889]|Kabuki syndrome [RCV002051413]|not provided [RCV003883710] |
Chr12:49039555..49039557 [GRCh38]
Chr12:49433338..49433340 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4376C>G (p.Pro1459Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001882228] |
Chr12:49046651 [GRCh38]
Chr12:49440434 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7964C>T (p.Ser2655Phe) |
single nucleotide variant |
Kabuki syndrome [RCV001867147] |
Chr12:49039806 [GRCh38]
Chr12:49433589 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2992C>G (p.Pro998Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002031635] |
Chr12:49050596 [GRCh38]
Chr12:49444379 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14966G>A (p.Arg4989Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001920298] |
Chr12:49027000 [GRCh38]
Chr12:49420783 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13711G>A (p.Ala4571Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002046155] |
Chr12:49030729 [GRCh38]
Chr12:49424512 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5189-1G>C |
single nucleotide variant |
Kabuki syndrome [RCV001991888] |
Chr12:49043999 [GRCh38]
Chr12:49437782 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4071T>A (p.Asp1357Glu) |
single nucleotide variant |
Kabuki syndrome [RCV001976674] |
Chr12:49048719 [GRCh38]
Chr12:49442502 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.661G>C (p.Ala221Pro) |
single nucleotide variant |
Kabuki syndrome [RCV001995967] |
Chr12:49053990 [GRCh38]
Chr12:49447773 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14543A>G (p.Lys4848Arg) |
single nucleotide variant |
Kabuki syndrome [RCV001958021] |
Chr12:49027903 [GRCh38]
Chr12:49421686 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12782_12784del (p.Pro4261del) |
deletion |
Kabuki syndrome [RCV001875229] |
Chr12:49031921..49031923 [GRCh38]
Chr12:49425704..49425706 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9901G>A (p.Gly3301Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002016507] |
Chr12:49037455 [GRCh38]
Chr12:49431238 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7581T>C (p.Phe2527=) |
single nucleotide variant |
Kabuki syndrome [RCV002026410] |
Chr12:49040189 [GRCh38]
Chr12:49433972 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13361C>A (p.Pro4454His) |
single nucleotide variant |
Kabuki syndrome [RCV001897242] |
Chr12:49031344 [GRCh38]
Chr12:49425127 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10215C>T (p.Ser3405=) |
single nucleotide variant |
Kabuki syndrome [RCV001875371] |
Chr12:49037141 [GRCh38]
Chr12:49430924 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14788A>T (p.Thr4930Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001932394] |
Chr12:49027178 [GRCh38]
Chr12:49420961 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6085C>T (p.Pro2029Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001956633] |
Chr12:49042113 [GRCh38]
Chr12:49435896 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10740+3G>C |
single nucleotide variant |
Kabuki syndrome [RCV002049069] |
Chr12:49034064 [GRCh38]
Chr12:49427847 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15683A>G (p.Tyr5228Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002049125] |
Chr12:49026283 [GRCh38]
Chr12:49420066 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7007C>T (p.Ser2336Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002030077] |
Chr12:49040763 [GRCh38]
Chr12:49434546 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2123C>G (p.Ser708Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003978447]|Kabuki syndrome [RCV001956932] |
Chr12:49051560 [GRCh38]
Chr12:49445343 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12218C>T (p.Ser4073Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002048272] |
Chr12:49032487 [GRCh38]
Chr12:49426270 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7390G>A (p.Ala2464Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002569226]|Kabuki syndrome [RCV001979289] |
Chr12:49040380 [GRCh38]
Chr12:49434163 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11700_11717del (p.3900LQQQQQ[2]) |
deletion |
Kabuki syndrome [RCV001867530] |
Chr12:49032988..49033005 [GRCh38]
Chr12:49426771..49426788 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6019G>C (p.Glu2007Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002015794] |
Chr12:49042179 [GRCh38]
Chr12:49435962 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8213C>T (p.Pro2738Leu) |
single nucleotide variant |
Kabuki syndrome [RCV001901294] |
Chr12:49039451 [GRCh38]
Chr12:49433234 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7560G>A (p.Arg2520=) |
single nucleotide variant |
Kabuki syndrome [RCV001972423] |
Chr12:49040210 [GRCh38]
Chr12:49433993 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7676C>G (p.Pro2559Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002011966] |
Chr12:49040094 [GRCh38]
Chr12:49433877 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11298C>G (p.Asn3766Lys) |
single nucleotide variant |
Kabuki syndrome [RCV001976069] |
Chr12:49033407 [GRCh38]
Chr12:49427190 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7765C>T (p.Pro2589Ser) |
single nucleotide variant |
Kabuki syndrome [RCV001923255] |
Chr12:49040005 [GRCh38]
Chr12:49433788 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7355G>A (p.Arg2452His) |
single nucleotide variant |
Kabuki syndrome [RCV001877066] |
Chr12:49040415 [GRCh38]
Chr12:49434198 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8539C>T (p.Arg2847Cys) |
single nucleotide variant |
Kabuki syndrome [RCV001932010] |
Chr12:49038817 [GRCh38]
Chr12:49432600 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.963G>A (p.Arg321=) |
single nucleotide variant |
Kabuki syndrome [RCV001994162] |
Chr12:49053064 [GRCh38]
Chr12:49446847 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12415_12416del (p.Val4139fs) |
deletion |
Kabuki syndrome [RCV001897637] |
Chr12:49032289..49032290 [GRCh38]
Chr12:49426072..49426073 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16553A>G (p.Asp5518Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002011120] |
Chr12:49021841 [GRCh38]
Chr12:49415624 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10355+5_10355+6del |
deletion |
Kabuki syndrome [RCV001974332] |
Chr12:49034806..49034807 [GRCh38]
Chr12:49428589..49428590 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12635G>A (p.Arg4212Gln) |
single nucleotide variant |
Kabuki syndrome [RCV001922014] |
Chr12:49032070 [GRCh38]
Chr12:49425853 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1112+20_1112+21del |
deletion |
Kabuki syndrome [RCV002210186] |
Chr12:49052894..49052895 [GRCh38]
Chr12:49446677..49446678 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16593T>C (p.Asn5531=) |
single nucleotide variant |
Kabuki syndrome [RCV002128535] |
Chr12:49021801 [GRCh38]
Chr12:49415584 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5320-6C>T |
single nucleotide variant |
Kabuki syndrome [RCV002210436] |
Chr12:49043788 [GRCh38]
Chr12:49437571 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3790C>T (p.Leu1264=) |
single nucleotide variant |
KMT2D-related condition [RCV003913508]|Kabuki syndrome [RCV002087559] |
Chr12:49049798 [GRCh38]
Chr12:49443581 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7500G>A (p.Ala2500=) |
single nucleotide variant |
KMT2D-related condition [RCV003895883]|Kabuki syndrome [RCV002108704] |
Chr12:49040270 [GRCh38]
Chr12:49434053 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10342C>T (p.Pro3448Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002090559]|not provided [RCV003130689] |
Chr12:49034825 [GRCh38]
Chr12:49428608 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5084-5C>G |
single nucleotide variant |
Kabuki syndrome [RCV002192369] |
Chr12:49044309 [GRCh38]
Chr12:49438092 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9429C>T (p.Pro3143=) |
single nucleotide variant |
Kabuki syndrome [RCV002075591] |
Chr12:49037927 [GRCh38]
Chr12:49431710 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1236G>A (p.Leu412=) |
single nucleotide variant |
Kabuki syndrome [RCV002084706] |
Chr12:49052586 [GRCh38]
Chr12:49446369 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2797+19T>C |
single nucleotide variant |
Kabuki syndrome [RCV002125707] |
Chr12:49050867 [GRCh38]
Chr12:49444650 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7503G>T (p.Gly2501=) |
single nucleotide variant |
Kabuki syndrome [RCV002071611] |
Chr12:49040267 [GRCh38]
Chr12:49434050 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4584-16A>G |
single nucleotide variant |
Kabuki syndrome [RCV002092201] |
Chr12:49046190 [GRCh38]
Chr12:49439973 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15150G>T (p.Leu5050=) |
single nucleotide variant |
KMT2D-related condition [RCV003951047]|Kabuki syndrome [RCV002107281] |
Chr12:49026816 [GRCh38]
Chr12:49420599 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5528C>A (p.Thr1843Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002074509]|not provided [RCV003134389] |
Chr12:49043368 [GRCh38]
Chr12:49437151 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13531-9T>C |
single nucleotide variant |
Kabuki syndrome [RCV002109214] |
Chr12:49031042 [GRCh38]
Chr12:49424825 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7794C>T (p.Ser2598=) |
single nucleotide variant |
KMT2D-related condition [RCV003893248]|Kabuki syndrome [RCV002086098] |
Chr12:49039976 [GRCh38]
Chr12:49433759 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3907-15C>G |
single nucleotide variant |
Kabuki syndrome [RCV002107396] |
Chr12:49049233 [GRCh38]
Chr12:49443016 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12596C>T (p.Ala4199Val) |
single nucleotide variant |
Kabuki syndrome [RCV002088925] |
Chr12:49032109 [GRCh38]
Chr12:49425892 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4443G>T (p.Gly1481=) |
single nucleotide variant |
Kabuki syndrome [RCV002190776] |
Chr12:49046400 [GRCh38]
Chr12:49440183 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7939G>A (p.Asp2647Asn) |
single nucleotide variant |
not provided [RCV002224458] |
Chr12:49039831 [GRCh38]
Chr12:49433614 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1143C>T (p.Pro381=) |
single nucleotide variant |
Kabuki syndrome [RCV002087884] |
Chr12:49052679 [GRCh38]
Chr12:49446462 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3471C>G (p.Pro1157=) |
single nucleotide variant |
Kabuki syndrome [RCV002188204] |
Chr12:49050117 [GRCh38]
Chr12:49443900 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5533+12C>T |
single nucleotide variant |
Kabuki syndrome [RCV002109423] |
Chr12:49043351 [GRCh38]
Chr12:49437134 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10653A>G (p.Lys3551=) |
single nucleotide variant |
Kabuki syndrome [RCV002091373] |
Chr12:49034154 [GRCh38]
Chr12:49427937 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15798C>T (p.Arg5266=) |
single nucleotide variant |
Kabuki syndrome [RCV002091426] |
Chr12:49024933 [GRCh38]
Chr12:49418716 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16412+12C>T |
single nucleotide variant |
Kabuki syndrome [RCV002192716] |
Chr12:49022268 [GRCh38]
Chr12:49416051 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7671G>A (p.Pro2557=) |
single nucleotide variant |
Kabuki syndrome [RCV002074535] |
Chr12:49040099 [GRCh38]
Chr12:49433882 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14107G>T (p.Asp4703Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002072387] |
Chr12:49029205 [GRCh38]
Chr12:49422988 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14505T>C (p.Ala4835=) |
single nucleotide variant |
Kabuki syndrome [RCV002130560] |
Chr12:49028019 [GRCh38]
Chr12:49421802 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1793G>A (p.Arg598His) |
single nucleotide variant |
Inborn genetic diseases [RCV003053384]|KMT2D-related condition [RCV003895852]|Kabuki syndrome [RCV002148067]|not provided [RCV003395398] |
Chr12:49051890 [GRCh38]
Chr12:49445673 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4505C>G (p.Ala1502Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002087853] |
Chr12:49046338 [GRCh38]
Chr12:49440121 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1560G>A (p.Leu520=) |
single nucleotide variant |
Kabuki syndrome [RCV002189568] |
Chr12:49052123 [GRCh38]
Chr12:49445906 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2196G>A (p.Pro732=) |
single nucleotide variant |
Kabuki syndrome [RCV002106730] |
Chr12:49051487 [GRCh38]
Chr12:49445270 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2797+5G>C |
single nucleotide variant |
Kabuki syndrome [RCV002126300] |
Chr12:49050881 [GRCh38]
Chr12:49444664 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1396C>T (p.Arg466Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002126287]|not provided [RCV002225969] |
Chr12:49052287 [GRCh38]
Chr12:49446070 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5073A>G (p.Pro1691=) |
single nucleotide variant |
KMT2D-related condition [RCV003911288]|Kabuki syndrome [RCV002205477] |
Chr12:49044413 [GRCh38]
Chr12:49438196 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4419-18T>C |
single nucleotide variant |
Kabuki syndrome [RCV002091890] |
Chr12:49046442 [GRCh38]
Chr12:49440225 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9405C>T (p.Thr3135=) |
single nucleotide variant |
Kabuki syndrome [RCV002126124] |
Chr12:49037951 [GRCh38]
Chr12:49431734 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10185A>G (p.Gln3395=) |
single nucleotide variant |
Kabuki syndrome [RCV002074909] |
Chr12:49037171 [GRCh38]
Chr12:49430954 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13654CTGAAACAG[1] (p.4552LKQ[1]) |
microsatellite |
Kabuki syndrome [RCV003089117]|not provided [RCV002211221] |
Chr12:49030893..49030901 [GRCh38]
Chr12:49424676..49424684 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10794G>A (p.Lys3598=) |
single nucleotide variant |
Kabuki syndrome [RCV002165882]|not provided [RCV003395371] |
Chr12:49033911 [GRCh38]
Chr12:49427694 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10209A>C (p.Ala3403=) |
single nucleotide variant |
Kabuki syndrome [RCV002147986] |
Chr12:49037147 [GRCh38]
Chr12:49430930 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8886G>A (p.Glu2962=) |
single nucleotide variant |
Kabuki syndrome [RCV002106675] |
Chr12:49038470 [GRCh38]
Chr12:49432253 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10538G>A (p.Trp3513Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002071026] |
Chr12:49034269 [GRCh38]
Chr12:49428052 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10851G>A (p.Leu3617=) |
single nucleotide variant |
Kabuki syndrome [RCV002111297] |
Chr12:49033854 [GRCh38]
Chr12:49427637 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6630G>A (p.Pro2210=) |
single nucleotide variant |
Kabuki syndrome [RCV002075010] |
Chr12:49041140 [GRCh38]
Chr12:49434923 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2022G>A (p.Pro674=) |
single nucleotide variant |
KMT2D-related condition [RCV003895917]|Kabuki syndrome [RCV002128249] |
Chr12:49051661 [GRCh38]
Chr12:49445444 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11442C>T (p.His3814=) |
single nucleotide variant |
KMT2D-related condition [RCV003893151]|Kabuki syndrome [RCV002187374] |
Chr12:49033263 [GRCh38]
Chr12:49427046 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14000-12C>T |
single nucleotide variant |
Kabuki syndrome [RCV002164846] |
Chr12:49029488 [GRCh38]
Chr12:49423271 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7086T>C (p.Pro2362=) |
single nucleotide variant |
Kabuki syndrome [RCV002210747] |
Chr12:49040684 [GRCh38]
Chr12:49434467 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6504C>T (p.Pro2168=) |
single nucleotide variant |
Kabuki syndrome [RCV002075923] |
Chr12:49041266 [GRCh38]
Chr12:49435049 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1966C>A (p.Leu656Met) |
single nucleotide variant |
KMT2D-related condition [RCV003951112]|Kabuki syndrome [RCV002124693] |
Chr12:49051717 [GRCh38]
Chr12:49445500 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2019A>T (p.Pro673=) |
single nucleotide variant |
Kabuki syndrome [RCV002086039] |
Chr12:49051664 [GRCh38]
Chr12:49445447 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2910G>A (p.Glu970=) |
single nucleotide variant |
Kabuki syndrome [RCV002168501] |
Chr12:49050678 [GRCh38]
Chr12:49444461 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8046+12C>T |
single nucleotide variant |
Kabuki syndrome [RCV002146799] |
Chr12:49039712 [GRCh38]
Chr12:49433495 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4026T>G (p.Ala1342=) |
single nucleotide variant |
Kabuki syndrome [RCV002110218] |
Chr12:49048764 [GRCh38]
Chr12:49442547 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6058C>T (p.Pro2020Ser) |
single nucleotide variant |
not specified [RCV002249278] |
Chr12:49042140 [GRCh38]
Chr12:49435923 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2229G>A (p.Leu743=) |
single nucleotide variant |
Kabuki syndrome [RCV002130353] |
Chr12:49051454 [GRCh38]
Chr12:49445237 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7332C>A (p.Phe2444Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002209029] |
Chr12:49040438 [GRCh38]
Chr12:49434221 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002250084] |
Chr12:49046416 [GRCh38]
Chr12:49440199 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13581G>A (p.Lys4527=) |
single nucleotide variant |
Kabuki syndrome [RCV002186138] |
Chr12:49030983 [GRCh38]
Chr12:49424766 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5411C>T (p.Pro1804Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002128536] |
Chr12:49043691 [GRCh38]
Chr12:49437474 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.983C>T (p.Ala328Val) |
single nucleotide variant |
Kabuki syndrome [RCV002127087] |
Chr12:49053044 [GRCh38]
Chr12:49446827 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10062G>A (p.Gly3354=) |
single nucleotide variant |
Kabuki syndrome [RCV002186755] |
Chr12:49037294 [GRCh38]
Chr12:49431077 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13312G>A (p.Glu4438Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002107392] |
Chr12:49031393 [GRCh38]
Chr12:49425176 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16179C>T (p.Thr5393=) |
single nucleotide variant |
Kabuki syndrome [RCV002129344]|not provided [RCV003395393] |
Chr12:49022749 [GRCh38]
Chr12:49416532 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10917T>C (p.His3639=) |
single nucleotide variant |
Kabuki syndrome [RCV002072534] |
Chr12:49033788 [GRCh38]
Chr12:49427571 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5188+8G>A |
single nucleotide variant |
Kabuki syndrome [RCV002086794] |
Chr12:49044192 [GRCh38]
Chr12:49437975 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5034A>G (p.Lys1678=) |
single nucleotide variant |
Kabuki syndrome [RCV002089270] |
Chr12:49044452 [GRCh38]
Chr12:49438235 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.259T>C (p.Leu87=) |
single nucleotide variant |
Kabuki syndrome [RCV002088132] |
Chr12:49054669 [GRCh38]
Chr12:49448452 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4470A>G (p.Glu1490=) |
single nucleotide variant |
Kabuki syndrome [RCV002106494] |
Chr12:49046373 [GRCh38]
Chr12:49440156 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12065C>T (p.Thr4022Met) |
single nucleotide variant |
Kabuki syndrome [RCV002129792] |
Chr12:49032640 [GRCh38]
Chr12:49426423 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10461C>T (p.Pro3487=) |
single nucleotide variant |
Kabuki syndrome [RCV002127773] |
Chr12:49034456 [GRCh38]
Chr12:49428239 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3652G>A (p.Ala1218Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002245279] |
Chr12:49049936 [GRCh38]
Chr12:49443719 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10140G>A (p.Lys3380=) |
single nucleotide variant |
Kabuki syndrome [RCV002166369] |
Chr12:49037216 [GRCh38]
Chr12:49430999 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8367-10A>G |
single nucleotide variant |
KMT2D-related condition [RCV003893218]|Kabuki syndrome [RCV002208034] |
Chr12:49038999 [GRCh38]
Chr12:49432782 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11000A>G (p.Gln3667Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002144984] |
Chr12:49033705 [GRCh38]
Chr12:49427488 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11819_11836dup (p.Leu3940_Gln3945dup) |
duplication |
Inborn genetic diseases [RCV003089203]|KMT2D-related condition [RCV003896074]|Kabuki syndrome [RCV003089202]|not provided [RCV002226034] |
Chr12:49032868..49032869 [GRCh38]
Chr12:49426651..49426652 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1259-14T>C |
single nucleotide variant |
Kabuki syndrome [RCV002108282] |
Chr12:49052438 [GRCh38]
Chr12:49446221 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4611C>G (p.Leu1537=) |
single nucleotide variant |
Kabuki syndrome [RCV002147793] |
Chr12:49046147 [GRCh38]
Chr12:49439930 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14844A>G (p.Ser4948=) |
single nucleotide variant |
Kabuki syndrome [RCV002107284] |
Chr12:49027122 [GRCh38]
Chr12:49420905 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12848C>T (p.Pro4283Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002145403] |
Chr12:49031857 [GRCh38]
Chr12:49425640 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2797+16T>G |
single nucleotide variant |
Kabuki syndrome [RCV002208329] |
Chr12:49050870 [GRCh38]
Chr12:49444653 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11028T>A (p.Ala3676=) |
single nucleotide variant |
Kabuki syndrome [RCV002185353] |
Chr12:49033677 [GRCh38]
Chr12:49427460 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14028G>A (p.Leu4676=) |
single nucleotide variant |
Kabuki syndrome [RCV002126401] |
Chr12:49029448 [GRCh38]
Chr12:49423231 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14957G>T (p.Arg4986Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002186265] |
Chr12:49027009 [GRCh38]
Chr12:49420792 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12372T>A (p.Ser4124=) |
single nucleotide variant |
Kabuki syndrome [RCV002085999] |
Chr12:49032333 [GRCh38]
Chr12:49426116 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13241G>A (p.Ser4414Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002186355] |
Chr12:49031464 [GRCh38]
Chr12:49425247 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7558C>T (p.Arg2520Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002551272]|Kabuki syndrome [RCV002087537]|not provided [RCV003389891] |
Chr12:49040212 [GRCh38]
Chr12:49433995 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14515+20C>T |
single nucleotide variant |
Kabuki syndrome [RCV002189263] |
Chr12:49027989 [GRCh38]
Chr12:49421772 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13674G>A (p.Glu4558=) |
single nucleotide variant |
Kabuki syndrome [RCV002091728] |
Chr12:49030766 [GRCh38]
Chr12:49424549 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2421C>T (p.Ser807=) |
single nucleotide variant |
Kabuki syndrome [RCV002111950] |
Chr12:49051262 [GRCh38]
Chr12:49445045 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.534C>T (p.Leu178=) |
single nucleotide variant |
Kabuki syndrome [RCV002146568] |
Chr12:49054117 [GRCh38]
Chr12:49447900 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14643+15G>C |
single nucleotide variant |
Kabuki syndrome [RCV002185677] |
Chr12:49027788 [GRCh38]
Chr12:49421571 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3840C>T (p.Ser1280=) |
single nucleotide variant |
Kabuki syndrome [RCV002108609] |
Chr12:49049748 [GRCh38]
Chr12:49443531 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7219C>A (p.Pro2407Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002190423] |
Chr12:49040551 [GRCh38]
Chr12:49434334 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4368C>T (p.Cys1456=) |
single nucleotide variant |
KMT2D-related condition [RCV003895776]|Kabuki syndrome [RCV002105382] |
Chr12:49046659 [GRCh38]
Chr12:49440442 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1318C>T (p.Leu440=) |
single nucleotide variant |
KMT2D-related condition [RCV003893298]|Kabuki syndrome [RCV002107445] |
Chr12:49052365 [GRCh38]
Chr12:49446148 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2141C>T (p.Ser714Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003418398]|Kabuki syndrome [RCV002148646] |
Chr12:49051542 [GRCh38]
Chr12:49445325 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7545C>T (p.Pro2515=) |
single nucleotide variant |
Kabuki syndrome [RCV002107054]|not specified [RCV003151380] |
Chr12:49040225 [GRCh38]
Chr12:49434008 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7378C>T (p.Arg2460Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002110038] |
Chr12:49040392 [GRCh38]
Chr12:49434175 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12537C>T (p.Leu4179=) |
single nucleotide variant |
KMT2D-related condition [RCV003970875]|Kabuki syndrome [RCV002105301] |
Chr12:49032168 [GRCh38]
Chr12:49425951 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13172A>G (p.Gln4391Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002165311] |
Chr12:49031533 [GRCh38]
Chr12:49425316 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6621G>T (p.Ala2207=) |
single nucleotide variant |
Kabuki syndrome [RCV002080056] |
Chr12:49041149 [GRCh38]
Chr12:49434932 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5385C>G (p.Gly1795=) |
single nucleotide variant |
Kabuki syndrome [RCV002187971] |
Chr12:49043717 [GRCh38]
Chr12:49437500 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.674-4G>A |
single nucleotide variant |
Kabuki syndrome [RCV002170947] |
Chr12:49053645 [GRCh38]
Chr12:49447428 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9554T>A (p.Phe3185Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002115534] |
Chr12:49037802 [GRCh38]
Chr12:49431585 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10404T>C (p.Ser3468=) |
single nucleotide variant |
Kabuki syndrome [RCV002197238] |
Chr12:49034618 [GRCh38]
Chr12:49428401 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15784+16T>C |
single nucleotide variant |
Kabuki syndrome [RCV002153882] |
Chr12:49026166 [GRCh38]
Chr12:49419949 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4694-20G>A |
single nucleotide variant |
Kabuki syndrome [RCV002170971] |
Chr12:49045987 [GRCh38]
Chr12:49439770 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4742-19_4742-15del |
deletion |
Kabuki syndrome [RCV002213486] |
Chr12:49044980..49044984 [GRCh38]
Chr12:49438763..49438767 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9315T>C (p.Asp3105=) |
single nucleotide variant |
Kabuki syndrome [RCV002094984] |
Chr12:49038041 [GRCh38]
Chr12:49431824 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2748G>A (p.Pro916=) |
single nucleotide variant |
Kabuki syndrome [RCV002132567] |
Chr12:49050935 [GRCh38]
Chr12:49444718 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5523C>T (p.Ala1841=) |
single nucleotide variant |
KMT2D-related condition [RCV003958737]|Kabuki syndrome [RCV002115957] |
Chr12:49043373 [GRCh38]
Chr12:49437156 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10575G>A (p.Leu3525=) |
single nucleotide variant |
KMT2D-related condition [RCV003958559]|Kabuki syndrome [RCV002211972] |
Chr12:49034232 [GRCh38]
Chr12:49428015 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5644+16G>A |
single nucleotide variant |
Kabuki syndrome [RCV002149079] |
Chr12:49043060 [GRCh38]
Chr12:49436843 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.626C>T (p.Thr209Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003968795]|Kabuki syndrome [RCV002209598]|not provided [RCV002225963]|not specified [RCV002246671] |
Chr12:49054025 [GRCh38]
Chr12:49447808 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13840-17C>T |
single nucleotide variant |
Kabuki syndrome [RCV002111172] |
Chr12:49030456 [GRCh38]
Chr12:49424239 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2610G>A (p.Glu870=) |
single nucleotide variant |
Kabuki syndrome [RCV002149963] |
Chr12:49051073 [GRCh38]
Chr12:49444856 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15639G>A (p.Thr5213=) |
single nucleotide variant |
Kabuki syndrome [RCV002170431] |
Chr12:49026327 [GRCh38]
Chr12:49420110 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12543T>C (p.Ser4181=) |
single nucleotide variant |
Kabuki syndrome [RCV002151389] |
Chr12:49032162 [GRCh38]
Chr12:49425945 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2332_2358del (p.Cys778_Pro786del) |
deletion |
Kabuki syndrome [RCV002213658]|not provided [RCV003443009] |
Chr12:49051325..49051351 [GRCh38]
Chr12:49445108..49445134 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3525A>T (p.Thr1175=) |
single nucleotide variant |
Kabuki syndrome [RCV002104927] |
Chr12:49050063 [GRCh38]
Chr12:49443846 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6985G>A (p.Ala2329Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002207946] |
Chr12:49040785 [GRCh38]
Chr12:49434568 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2004A>G (p.Glu668=) |
single nucleotide variant |
Kabuki syndrome [RCV002196287] |
Chr12:49051679 [GRCh38]
Chr12:49445462 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6273C>T (p.Gly2091=) |
single nucleotide variant |
Kabuki syndrome [RCV002133988] |
Chr12:49041497 [GRCh38]
Chr12:49435280 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3890G>A (p.Arg1297His) |
single nucleotide variant |
KMT2D-related condition [RCV003408127]|Kabuki syndrome [RCV002127161] |
Chr12:49049698 [GRCh38]
Chr12:49443481 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8603T>C (p.Val2868Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002076814] |
Chr12:49038753 [GRCh38]
Chr12:49432536 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5735C>T (p.Pro1912Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002171422] |
Chr12:49042788 [GRCh38]
Chr12:49436571 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13527G>A (p.Lys4509=) |
single nucleotide variant |
Kabuki syndrome [RCV002213551] |
Chr12:49031178 [GRCh38]
Chr12:49424961 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15285C>T (p.Cys5095=) |
single nucleotide variant |
KMT2D-related condition [RCV003968852]|Kabuki syndrome [RCV002093287] |
Chr12:49026681 [GRCh38]
Chr12:49420464 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14097C>T (p.Ser4699=) |
single nucleotide variant |
Kabuki syndrome [RCV002080297] |
Chr12:49029215 [GRCh38]
Chr12:49422998 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14000-15C>T |
single nucleotide variant |
Kabuki syndrome [RCV002097181] |
Chr12:49029491 [GRCh38]
Chr12:49423274 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8271T>C (p.Ser2757=) |
single nucleotide variant |
not provided [RCV002211222] |
Chr12:49039317 [GRCh38]
Chr12:49433100 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5966C>T (p.Thr1989Met) |
single nucleotide variant |
Kabuki syndrome [RCV003753214]|not provided [RCV002211223]|not specified [RCV003151391] |
Chr12:49042232 [GRCh38]
Chr12:49436015 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7101C>T (p.Asp2367=) |
single nucleotide variant |
Kabuki syndrome [RCV002111429] |
Chr12:49040669 [GRCh38]
Chr12:49434452 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7950T>G (p.Thr2650=) |
single nucleotide variant |
Kabuki syndrome [RCV002077447] |
Chr12:49039820 [GRCh38]
Chr12:49433603 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5262A>G (p.Gln1754=) |
single nucleotide variant |
Kabuki syndrome [RCV002096367] |
Chr12:49043925 [GRCh38]
Chr12:49437708 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1692C>G (p.Ser564=) |
single nucleotide variant |
Kabuki syndrome [RCV002173901] |
Chr12:49051991 [GRCh38]
Chr12:49445774 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12993C>T (p.Pro4331=) |
single nucleotide variant |
Kabuki syndrome [RCV002080344] |
Chr12:49031712 [GRCh38]
Chr12:49425495 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3936C>T (p.Arg1312=) |
single nucleotide variant |
Kabuki syndrome [RCV002116688] |
Chr12:49049189 [GRCh38]
Chr12:49442972 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10741-16G>A |
single nucleotide variant |
Kabuki syndrome [RCV002097353] |
Chr12:49033980 [GRCh38]
Chr12:49427763 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12933A>G (p.Pro4311=) |
single nucleotide variant |
Kabuki syndrome [RCV002081009] |
Chr12:49031772 [GRCh38]
Chr12:49425555 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1986G>A (p.Leu662=) |
single nucleotide variant |
KMT2D-related condition [RCV003893163]|Kabuki syndrome [RCV002195049] |
Chr12:49051697 [GRCh38]
Chr12:49445480 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4500C>T (p.Pro1500=) |
single nucleotide variant |
Kabuki syndrome [RCV002129859] |
Chr12:49046343 [GRCh38]
Chr12:49440126 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3213C>T (p.His1071=) |
single nucleotide variant |
KMT2D-related condition [RCV003893226]|Kabuki syndrome [RCV002075414] |
Chr12:49050375 [GRCh38]
Chr12:49444158 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14607G>A (p.Leu4869=) |
single nucleotide variant |
Kabuki syndrome [RCV002113613] |
Chr12:49027839 [GRCh38]
Chr12:49421622 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14555C>T (p.Thr4852Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003418375]|Kabuki syndrome [RCV002095789] |
Chr12:49027891 [GRCh38]
Chr12:49421674 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1377C>G (p.Ser459=) |
single nucleotide variant |
Kabuki syndrome [RCV002117064] |
Chr12:49052306 [GRCh38]
Chr12:49446089 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2129C>G (p.Pro710Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003418362]|Kabuki syndrome [RCV002085028] |
Chr12:49051554 [GRCh38]
Chr12:49445337 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10389G>A (p.Ser3463=) |
single nucleotide variant |
Kabuki syndrome [RCV002133049] |
Chr12:49034633 [GRCh38]
Chr12:49428416 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12051A>C (p.Pro4017=) |
single nucleotide variant |
KMT2D-related condition [RCV003903375]|Kabuki syndrome [RCV002115621] |
Chr12:49032654 [GRCh38]
Chr12:49426437 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6541C>G (p.Pro2181Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002097053] |
Chr12:49041229 [GRCh38]
Chr12:49435012 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13045C>A (p.Pro4349Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002081031] |
Chr12:49031660 [GRCh38]
Chr12:49425443 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5202C>T (p.Asp1734=) |
single nucleotide variant |
KMT2D-related condition [RCV003895996]|Kabuki syndrome [RCV002151545] |
Chr12:49043985 [GRCh38]
Chr12:49437768 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5645-18T>G |
single nucleotide variant |
Kabuki syndrome [RCV002097643] |
Chr12:49042896 [GRCh38]
Chr12:49436679 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9500G>A (p.Arg3167Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002117346] |
Chr12:49037856 [GRCh38]
Chr12:49431639 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5143G>A (p.Ala1715Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002197545] |
Chr12:49044245 [GRCh38]
Chr12:49438028 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8190G>A (p.Glu2730=) |
single nucleotide variant |
Kabuki syndrome [RCV002175087] |
Chr12:49039474 [GRCh38]
Chr12:49433257 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4938C>T (p.Asp1646=) |
single nucleotide variant |
Kabuki syndrome [RCV002216298] |
Chr12:49044769 [GRCh38]
Chr12:49438552 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2253C>T (p.His751=) |
single nucleotide variant |
KMT2D-related condition [RCV003913581]|Kabuki syndrome [RCV002195365] |
Chr12:49051430 [GRCh38]
Chr12:49445213 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.65C>T (p.Ala22Val) |
single nucleotide variant |
Kabuki syndrome [RCV002132365] |
Chr12:49055011 [GRCh38]
Chr12:49448794 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5244G>A (p.Gly1748=) |
single nucleotide variant |
Kabuki syndrome [RCV002133629] |
Chr12:49043943 [GRCh38]
Chr12:49437726 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11127C>G (p.Leu3709=) |
single nucleotide variant |
Kabuki syndrome [RCV002216303] |
Chr12:49033578 [GRCh38]
Chr12:49427361 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1878G>C (p.Leu626=) |
single nucleotide variant |
Kabuki syndrome [RCV002105127] |
Chr12:49051805 [GRCh38]
Chr12:49445588 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3765C>G (p.Gly1255=) |
single nucleotide variant |
Kabuki syndrome [RCV002071779] |
Chr12:49049823 [GRCh38]
Chr12:49443606 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11088A>G (p.Ser3696=) |
single nucleotide variant |
Kabuki syndrome [RCV002145293] |
Chr12:49033617 [GRCh38]
Chr12:49427400 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6110-15C>T |
single nucleotide variant |
Kabuki syndrome [RCV002173176] |
Chr12:49042005 [GRCh38]
Chr12:49435788 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9597C>T (p.Ser3199=) |
single nucleotide variant |
Kabuki syndrome [RCV002085676] |
Chr12:49037759 [GRCh38]
Chr12:49431542 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7098A>G (p.Pro2366=) |
single nucleotide variant |
Kabuki syndrome [RCV002145330] |
Chr12:49040672 [GRCh38]
Chr12:49434455 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5127C>G (p.Arg1709=) |
single nucleotide variant |
Kabuki syndrome [RCV002150657] |
Chr12:49044261 [GRCh38]
Chr12:49438044 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003895811]|Kabuki syndrome 1 [RCV003447618]|Kabuki syndrome [RCV002115772] |
Chr12:49031843 [GRCh38]
Chr12:49425626 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14574G>A (p.Lys4858=) |
single nucleotide variant |
KMT2D-related condition [RCV003895836]|Kabuki syndrome 1 [RCV002500078]|Kabuki syndrome [RCV002135072] |
Chr12:49027872 [GRCh38]
Chr12:49421655 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2901T>C (p.Ser967=) |
single nucleotide variant |
Kabuki syndrome [RCV002153640] |
Chr12:49050687 [GRCh38]
Chr12:49444470 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12690G>A (p.Gln4230=) |
single nucleotide variant |
Kabuki syndrome [RCV002133386] |
Chr12:49032015 [GRCh38]
Chr12:49425798 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15267A>C (p.Leu5089=) |
single nucleotide variant |
Kabuki syndrome [RCV002090573] |
Chr12:49026699 [GRCh38]
Chr12:49420482 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.957G>A (p.Ala319=) |
single nucleotide variant |
Kabuki syndrome [RCV002172397] |
Chr12:49053070 [GRCh38]
Chr12:49446853 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.510+15G>T |
single nucleotide variant |
Kabuki syndrome [RCV002095615] |
Chr12:49054292 [GRCh38]
Chr12:49448075 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8079G>A (p.Gln2693=) |
single nucleotide variant |
KMT2D-related condition [RCV003933531]|Kabuki syndrome [RCV002094460]|not provided [RCV003395402] |
Chr12:49039585 [GRCh38]
Chr12:49433368 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14252-20A>G |
single nucleotide variant |
Kabuki syndrome [RCV002096640] |
Chr12:49028978 [GRCh38]
Chr12:49422761 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14784C>G (p.Pro4928=) |
single nucleotide variant |
Kabuki syndrome [RCV002097273] |
Chr12:49027182 [GRCh38]
Chr12:49420965 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8367-17A>G |
single nucleotide variant |
Kabuki syndrome [RCV002153849] |
Chr12:49039006 [GRCh38]
Chr12:49432789 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6873G>A (p.Glu2291=) |
single nucleotide variant |
Kabuki syndrome [RCV002195849] |
Chr12:49040897 [GRCh38]
Chr12:49434680 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13464C>T (p.Asn4488=) |
single nucleotide variant |
KMT2D-related condition [RCV003958870]|Kabuki syndrome [RCV002131051] |
Chr12:49031241 [GRCh38]
Chr12:49425024 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2798-21_2798-19del |
microsatellite |
Kabuki syndrome [RCV002095661] |
Chr12:49050809..49050811 [GRCh38]
Chr12:49444592..49444594 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15771C>T (p.Asp5257=) |
single nucleotide variant |
KMT2D-related condition [RCV003893127]|Kabuki syndrome [RCV002172844] |
Chr12:49026195 [GRCh38]
Chr12:49419978 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6753G>A (p.Ser2251=) |
single nucleotide variant |
Kabuki syndrome [RCV002215204] |
Chr12:49041017 [GRCh38]
Chr12:49434800 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6990C>T (p.Pro2330=) |
single nucleotide variant |
Kabuki syndrome [RCV002215890]|not provided [RCV003389895] |
Chr12:49040780 [GRCh38]
Chr12:49434563 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1563T>G (p.Ser521=) |
single nucleotide variant |
Kabuki syndrome [RCV002193653] |
Chr12:49052120 [GRCh38]
Chr12:49445903 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8869C>T (p.Leu2957=) |
single nucleotide variant |
Kabuki syndrome [RCV002095975] |
Chr12:49038487 [GRCh38]
Chr12:49432270 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12578C>T (p.Thr4193Met) |
single nucleotide variant |
Kabuki syndrome [RCV002215096] |
Chr12:49032127 [GRCh38]
Chr12:49425910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4583+3G>T |
single nucleotide variant |
not provided [RCV002211008] |
Chr12:49046257 [GRCh38]
Chr12:49440040 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9331C>T (p.Leu3111=) |
single nucleotide variant |
Kabuki syndrome [RCV002096032] |
Chr12:49038025 [GRCh38]
Chr12:49431808 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8946A>G (p.Glu2982=) |
single nucleotide variant |
KMT2D-related condition [RCV003895905]|Kabuki syndrome [RCV002114506] |
Chr12:49038410 [GRCh38]
Chr12:49432193 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2283A>G (p.Leu761=) |
single nucleotide variant |
Kabuki syndrome [RCV002134226] |
Chr12:49051400 [GRCh38]
Chr12:49445183 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15411G>A (p.Lys5137=) |
single nucleotide variant |
Kabuki syndrome [RCV002151744] |
Chr12:49026555 [GRCh38]
Chr12:49420338 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.673+11C>T |
single nucleotide variant |
not provided [RCV002224859] |
Chr12:49053967 [GRCh38]
Chr12:49447750 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4132-12G>T |
single nucleotide variant |
Kabuki syndrome [RCV002127867] |
Chr12:49048081 [GRCh38]
Chr12:49441864 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5838C>A (p.Gly1946=) |
single nucleotide variant |
Kabuki syndrome [RCV002209673] |
Chr12:49042590 [GRCh38]
Chr12:49436373 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3907-7C>G |
single nucleotide variant |
Kabuki syndrome [RCV002129294] |
Chr12:49049225 [GRCh38]
Chr12:49443008 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12329C>T (p.Thr4110Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002096663] |
Chr12:49032376 [GRCh38]
Chr12:49426159 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8138C>G (p.Ala2713Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002196103] |
Chr12:49039526 [GRCh38]
Chr12:49433309 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4296G>A (p.Val1432=) |
single nucleotide variant |
Kabuki syndrome [RCV002212691] |
Chr12:49046731 [GRCh38]
Chr12:49440514 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4155C>T (p.Ser1385=) |
single nucleotide variant |
Kabuki syndrome [RCV002205528] |
Chr12:49048046 [GRCh38]
Chr12:49441829 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1258+13T>A |
single nucleotide variant |
Kabuki syndrome [RCV002071351] |
Chr12:49052551 [GRCh38]
Chr12:49446334 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9718C>T (p.Leu3240=) |
single nucleotide variant |
Kabuki syndrome [RCV002109763]|not provided [RCV003883770] |
Chr12:49037638 [GRCh38]
Chr12:49431421 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8556C>T (p.Ser2852=) |
single nucleotide variant |
Kabuki syndrome [RCV002146541] |
Chr12:49038800 [GRCh38]
Chr12:49432583 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1259-17TGT[2] |
microsatellite |
KMT2D-related condition [RCV003913582]|Kabuki syndrome [RCV002211444] |
Chr12:49052433..49052435 [GRCh38]
Chr12:49446216..49446218 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4179C>T (p.His1393=) |
single nucleotide variant |
Kabuki syndrome [RCV002094144] |
Chr12:49048022 [GRCh38]
Chr12:49441805 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11226G>A (p.Gln3742=) |
single nucleotide variant |
Kabuki syndrome [RCV002214792] |
Chr12:49033479 [GRCh38]
Chr12:49427262 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1768A>G (p.Met590Val) |
single nucleotide variant |
Kabuki syndrome [RCV002171940] |
Chr12:49051915 [GRCh38]
Chr12:49445698 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1425C>T (p.Pro475=) |
single nucleotide variant |
Kabuki syndrome [RCV002086072] |
Chr12:49052258 [GRCh38]
Chr12:49446041 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.674-6del |
deletion |
KMT2D-related condition [RCV003893247]|Kabuki syndrome [RCV002086082] |
Chr12:49053647 [GRCh38]
Chr12:49447430 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13840-9A>G |
single nucleotide variant |
Kabuki syndrome [RCV002073522] |
Chr12:49030448 [GRCh38]
Chr12:49424231 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11979G>A (p.Gln3993=) |
single nucleotide variant |
Kabuki syndrome [RCV002076493] |
Chr12:49032726 [GRCh38]
Chr12:49426509 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10441-8C>T |
single nucleotide variant |
Kabuki syndrome [RCV002151227] |
Chr12:49034484 [GRCh38]
Chr12:49428267 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11791C>T (p.Leu3931Phe) |
single nucleotide variant |
Eccrine porocarcinoma [RCV003458833]|Kabuki syndrome [RCV002115404] |
Chr12:49032914 [GRCh38]
Chr12:49426697 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10391G>A (p.Gly3464Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002133877] |
Chr12:49034631 [GRCh38]
Chr12:49428414 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.511-9C>T |
single nucleotide variant |
Kabuki syndrome [RCV002092970] |
Chr12:49054149 [GRCh38]
Chr12:49447932 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11021A>G (p.Asn3674Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002114217] |
Chr12:49033684 [GRCh38]
Chr12:49427467 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14581G>A (p.Asp4861Asn) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002508004]|Kabuki syndrome [RCV002105883] |
Chr12:49027865 [GRCh38]
Chr12:49421648 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14733T>C (p.Pro4911=) |
single nucleotide variant |
Kabuki syndrome [RCV002186554] |
Chr12:49027233 [GRCh38]
Chr12:49421016 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5868-7G>A |
single nucleotide variant |
Kabuki syndrome [RCV002096226] |
Chr12:49042337 [GRCh38]
Chr12:49436120 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9492G>A (p.Arg3164=) |
single nucleotide variant |
Kabuki syndrome [RCV002093085] |
Chr12:49037864 [GRCh38]
Chr12:49431647 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7731C>T (p.Ser2577=) |
single nucleotide variant |
Kabuki syndrome [RCV002095680] |
Chr12:49040039 [GRCh38]
Chr12:49433822 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14516-19G>C |
single nucleotide variant |
Kabuki syndrome [RCV002195707] |
Chr12:49027949 [GRCh38]
Chr12:49421732 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12909C>T (p.Gly4303=) |
single nucleotide variant |
Kabuki syndrome [RCV002079686] |
Chr12:49031796 [GRCh38]
Chr12:49425579 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11715G>A (p.Gln3905=) |
single nucleotide variant |
Kabuki syndrome [RCV002193327] |
Chr12:49032990 [GRCh38]
Chr12:49426773 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3216G>A (p.Glu1072=) |
single nucleotide variant |
Kabuki syndrome [RCV002116567] |
Chr12:49050372 [GRCh38]
Chr12:49444155 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6791G>C (p.Gly2264Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002124725] |
Chr12:49040979 [GRCh38]
Chr12:49434762 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6215G>A (p.Arg2072His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002208754] |
Chr12:49041674 [GRCh38]
Chr12:49435457 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11161C>G (p.Leu3721Val) |
single nucleotide variant |
Kabuki syndrome [RCV002190638] |
Chr12:49033544 [GRCh38]
Chr12:49427327 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1042C>T (p.Arg348Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002078468]|not specified [RCV003151384] |
Chr12:49052985 [GRCh38]
Chr12:49446768 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15738C>T (p.Ile5246=) |
single nucleotide variant |
Kabuki syndrome [RCV002078192]|not provided [RCV003395380] |
Chr12:49026228 [GRCh38]
Chr12:49420011 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5967G>T (p.Thr1989=) |
single nucleotide variant |
KMT2D-related condition [RCV003913621]|Kabuki syndrome [RCV002078233] |
Chr12:49042231 [GRCh38]
Chr12:49436014 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15693T>C (p.Ser5231=) |
single nucleotide variant |
Kabuki syndrome [RCV002092018] |
Chr12:49026273 [GRCh38]
Chr12:49420056 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10659C>T (p.Gly3553=) |
single nucleotide variant |
Kabuki syndrome [RCV002197022] |
Chr12:49034148 [GRCh38]
Chr12:49427931 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13860G>T (p.Pro4620=) |
single nucleotide variant |
Kabuki syndrome [RCV002097129] |
Chr12:49030419 [GRCh38]
Chr12:49424202 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1374G>A (p.Thr458=) |
single nucleotide variant |
Kabuki syndrome [RCV002094898] |
Chr12:49052309 [GRCh38]
Chr12:49446092 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2700G>T (p.Leu900=) |
single nucleotide variant |
Kabuki syndrome [RCV002170958] |
Chr12:49050983 [GRCh38]
Chr12:49444766 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3597C>T (p.Leu1199=) |
single nucleotide variant |
Kabuki syndrome [RCV002171208] |
Chr12:49049991 [GRCh38]
Chr12:49443774 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7368C>T (p.Arg2456=) |
single nucleotide variant |
Kabuki syndrome [RCV002196985] |
Chr12:49040402 [GRCh38]
Chr12:49434185 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16506C>T (p.Ile5502=) |
single nucleotide variant |
Kabuki syndrome [RCV002108916] |
Chr12:49022058 [GRCh38]
Chr12:49415841 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9573A>G (p.Pro3191=) |
single nucleotide variant |
Kabuki syndrome [RCV002153289] |
Chr12:49037783 [GRCh38]
Chr12:49431566 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3312C>T (p.Pro1104=) |
single nucleotide variant |
KMT2D-related condition [RCV003971139]|Kabuki syndrome [RCV002174567] |
Chr12:49050276 [GRCh38]
Chr12:49444059 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7858G>A (p.Ala2620Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002125846] |
Chr12:49039912 [GRCh38]
Chr12:49433695 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4083G>T (p.Gln1361His) |
single nucleotide variant |
Kabuki syndrome [RCV002185729] |
Chr12:49048707 [GRCh38]
Chr12:49442490 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13407A>G (p.Ala4469=) |
single nucleotide variant |
Kabuki syndrome [RCV002150403] |
Chr12:49031298 [GRCh38]
Chr12:49425081 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9051T>C (p.Asp3017=) |
single nucleotide variant |
KMT2D-related condition [RCV003896024]|Kabuki syndrome [RCV002178563] |
Chr12:49038305 [GRCh38]
Chr12:49432088 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12381C>G (p.Ala4127=) |
single nucleotide variant |
Kabuki syndrome [RCV002157315] |
Chr12:49032324 [GRCh38]
Chr12:49426107 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14516-8T>G |
single nucleotide variant |
Kabuki syndrome [RCV002157339] |
Chr12:49027938 [GRCh38]
Chr12:49421721 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4669C>G (p.Gln1557Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002244129]|Kabuki syndrome [RCV003588781] |
Chr12:49046089 [GRCh38]
Chr12:49439872 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13798C>T (p.Leu4600=) |
single nucleotide variant |
KMT2D-related condition [RCV003950951]|Kabuki syndrome [RCV002216425] |
Chr12:49030642 [GRCh38]
Chr12:49424425 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7482C>T (p.Phe2494=) |
single nucleotide variant |
Kabuki syndrome [RCV002139067] |
Chr12:49040288 [GRCh38]
Chr12:49434071 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5136G>A (p.Lys1712=) |
single nucleotide variant |
Kabuki syndrome [RCV002139068] |
Chr12:49044252 [GRCh38]
Chr12:49438035 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9426G>A (p.Glu3142=) |
single nucleotide variant |
Kabuki syndrome [RCV002099862] |
Chr12:49037930 [GRCh38]
Chr12:49431713 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13455T>G (p.Ala4485=) |
single nucleotide variant |
Kabuki syndrome [RCV002099985] |
Chr12:49031250 [GRCh38]
Chr12:49425033 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8941C>G (p.Leu2981Val) |
single nucleotide variant |
Kabuki syndrome [RCV002083601] |
Chr12:49038415 [GRCh38]
Chr12:49432198 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10035A>G (p.Pro3345=) |
single nucleotide variant |
Kabuki syndrome [RCV002081612] |
Chr12:49037321 [GRCh38]
Chr12:49431104 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7866C>T (p.Asp2622=) |
single nucleotide variant |
Kabuki syndrome [RCV002081614] |
Chr12:49039904 [GRCh38]
Chr12:49433687 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3711C>T (p.Ser1237=) |
single nucleotide variant |
Kabuki syndrome [RCV002157889] |
Chr12:49049877 [GRCh38]
Chr12:49443660 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6300G>A (p.Pro2100=) |
single nucleotide variant |
Kabuki syndrome [RCV002135836] |
Chr12:49041470 [GRCh38]
Chr12:49435253 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5644+10T>C |
single nucleotide variant |
Kabuki syndrome [RCV002102421] |
Chr12:49043066 [GRCh38]
Chr12:49436849 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8985C>T (p.Asp2995=) |
single nucleotide variant |
Kabuki syndrome [RCV002098527] |
Chr12:49038371 [GRCh38]
Chr12:49432154 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14229C>T (p.Leu4743=) |
single nucleotide variant |
Kabuki syndrome [RCV002102543] |
Chr12:49029083 [GRCh38]
Chr12:49422866 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11460C>T (p.Pro3820=) |
single nucleotide variant |
Kabuki syndrome [RCV002123848] |
Chr12:49033245 [GRCh38]
Chr12:49427028 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13932A>G (p.Pro4644=) |
single nucleotide variant |
Kabuki syndrome [RCV002154801] |
Chr12:49030347 [GRCh38]
Chr12:49424130 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9006C>G (p.Ala3002=) |
single nucleotide variant |
Kabuki syndrome [RCV002118496] |
Chr12:49038350 [GRCh38]
Chr12:49432133 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3054G>A (p.Glu1018=) |
single nucleotide variant |
Kabuki syndrome [RCV002156799] |
Chr12:49050534 [GRCh38]
Chr12:49444317 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4041T>C (p.Ser1347=) |
single nucleotide variant |
Kabuki syndrome [RCV002098862] |
Chr12:49048749 [GRCh38]
Chr12:49442532 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4020+11G>T |
single nucleotide variant |
Kabuki syndrome [RCV002120287] |
Chr12:49049094 [GRCh38]
Chr12:49442877 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11826_11849del (p.3939QLQQQQQQ[1]) |
deletion |
KMT2D-related condition [RCV003408157]|Kabuki syndrome [RCV002176324] |
Chr12:49032856..49032879 [GRCh38]
Chr12:49426639..49426662 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5188+15G>T |
single nucleotide variant |
Kabuki syndrome [RCV002139938] |
Chr12:49044185 [GRCh38]
Chr12:49437968 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2145C>T (p.Leu715=) |
single nucleotide variant |
Kabuki syndrome [RCV002157015] |
Chr12:49051538 [GRCh38]
Chr12:49445321 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8133A>G (p.Ala2711=) |
single nucleotide variant |
Kabuki syndrome [RCV002141986] |
Chr12:49039531 [GRCh38]
Chr12:49433314 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3566G>A (p.Arg1189His) |
single nucleotide variant |
Kabuki syndrome [RCV002142087] |
Chr12:49050022 [GRCh38]
Chr12:49443805 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5782+19G>C |
single nucleotide variant |
Kabuki syndrome [RCV002142215] |
Chr12:49042722 [GRCh38]
Chr12:49436505 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15922-19G>A |
single nucleotide variant |
Kabuki syndrome [RCV002200822] |
Chr12:49024727 [GRCh38]
Chr12:49418510 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1113-14T>C |
single nucleotide variant |
Kabuki syndrome [RCV002180113] |
Chr12:49052723 [GRCh38]
Chr12:49446506 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14281C>T (p.Leu4761Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002155346] |
Chr12:49028929 [GRCh38]
Chr12:49422712 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.137C>G (p.Ser46Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003152787]|not provided [RCV002222819] |
Chr12:49054939 [GRCh38]
Chr12:49448722 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12158C>G (p.Thr4053Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002164780] |
Chr12:49032547 [GRCh38]
Chr12:49426330 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13872G>A (p.Ser4624=) |
single nucleotide variant |
Kabuki syndrome [RCV002121306] |
Chr12:49030407 [GRCh38]
Chr12:49424190 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15717G>A (p.Pro5239=) |
single nucleotide variant |
KMT2D-related condition [RCV003951207]|Kabuki syndrome [RCV002121320] |
Chr12:49026249 [GRCh38]
Chr12:49420032 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16044C>T (p.His5348=) |
single nucleotide variant |
Kabuki syndrome [RCV002081165] |
Chr12:49024586 [GRCh38]
Chr12:49418369 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13995G>A (p.Leu4665=) |
single nucleotide variant |
Kabuki syndrome [RCV002182743] |
Chr12:49030284 [GRCh38]
Chr12:49424067 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5382G>A (p.Val1794=) |
single nucleotide variant |
Kabuki syndrome [RCV002117587] |
Chr12:49043720 [GRCh38]
Chr12:49437503 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13549C>G (p.Pro4517Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003895801]|Kabuki syndrome [RCV002117662] |
Chr12:49031015 [GRCh38]
Chr12:49424798 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8268G>A (p.Leu2756=) |
single nucleotide variant |
Kabuki syndrome [RCV002144500] |
Chr12:49039320 [GRCh38]
Chr12:49433103 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002245278]|Kabuki syndrome [RCV003120848] |
Chr12:49027043 [GRCh38]
Chr12:49420826 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9259C>T (p.Arg3087Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002098034]|not provided [RCV003395383] |
Chr12:49038097 [GRCh38]
Chr12:49431880 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2535G>A (p.Arg845=) |
single nucleotide variant |
Kabuki syndrome [RCV002154201] |
Chr12:49051148 [GRCh38]
Chr12:49444931 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5193A>C (p.Ile1731=) |
single nucleotide variant |
Kabuki syndrome [RCV002141468] |
Chr12:49043994 [GRCh38]
Chr12:49437777 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4021-6C>T |
single nucleotide variant |
Kabuki syndrome [RCV002141510] |
Chr12:49048775 [GRCh38]
Chr12:49442558 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8304C>T (p.Ser2768=) |
single nucleotide variant |
Kabuki syndrome [RCV002161785]|not provided [RCV003738154] |
Chr12:49039284 [GRCh38]
Chr12:49433067 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3717C>A (p.Ser1239=) |
single nucleotide variant |
KMT2D-related condition [RCV003913758]|Kabuki syndrome [RCV002137731] |
Chr12:49049871 [GRCh38]
Chr12:49443654 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2289G>A (p.Pro763=) |
single nucleotide variant |
KMT2D-related condition [RCV003951138]|Kabuki syndrome [RCV002137746] |
Chr12:49051394 [GRCh38]
Chr12:49445177 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11385C>G (p.Pro3795=) |
single nucleotide variant |
Kabuki syndrome [RCV002156382] |
Chr12:49033320 [GRCh38]
Chr12:49427103 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2556C>T (p.Ser852=) |
single nucleotide variant |
Kabuki syndrome [RCV002136007] |
Chr12:49051127 [GRCh38]
Chr12:49444910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11514C>G (p.Pro3838=) |
single nucleotide variant |
Kabuki syndrome [RCV002137963] |
Chr12:49033191 [GRCh38]
Chr12:49426974 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2214C>G (p.Ser738=) |
single nucleotide variant |
Kabuki syndrome [RCV002163851] |
Chr12:49051469 [GRCh38]
Chr12:49445252 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14253C>T (p.Val4751=) |
single nucleotide variant |
KMT2D-related condition [RCV003895865]|Kabuki syndrome [RCV002084045] |
Chr12:49028957 [GRCh38]
Chr12:49422740 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13893C>A (p.Pro4631=) |
single nucleotide variant |
KMT2D-related condition [RCV003893161]|Kabuki syndrome [RCV002202433] |
Chr12:49030386 [GRCh38]
Chr12:49424169 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13623G>A (p.Lys4541=) |
single nucleotide variant |
KMT2D-related condition [RCV003893162]|Kabuki syndrome [RCV002202434] |
Chr12:49030941 [GRCh38]
Chr12:49424724 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15462G>T (p.Arg5154=) |
single nucleotide variant |
KMT2D-related condition [RCV003941290]|Kabuki syndrome [RCV002162254] |
Chr12:49026504 [GRCh38]
Chr12:49420287 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5853G>A (p.Pro1951=) |
single nucleotide variant |
Kabuki syndrome [RCV002082263] |
Chr12:49042575 [GRCh38]
Chr12:49436358 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2798-7C>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV002227721] |
Chr12:49050797 [GRCh38]
Chr12:49444580 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16339-13T>C |
single nucleotide variant |
Kabuki syndrome [RCV002084241] |
Chr12:49022366 [GRCh38]
Chr12:49416149 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7882C>T (p.Leu2628=) |
single nucleotide variant |
Kabuki syndrome [RCV002158761] |
Chr12:49039888 [GRCh38]
Chr12:49433671 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11232G>A (p.Gln3744=) |
single nucleotide variant |
Kabuki syndrome [RCV002204588] |
Chr12:49033473 [GRCh38]
Chr12:49427256 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6420C>T (p.Asp2140=) |
single nucleotide variant |
Kabuki syndrome [RCV002204606] |
Chr12:49041350 [GRCh38]
Chr12:49435133 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14000-9A>G |
single nucleotide variant |
KMT2D-related condition [RCV003916344]|Kabuki syndrome [RCV002164096] |
Chr12:49029485 [GRCh38]
Chr12:49423268 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14382+18C>T |
single nucleotide variant |
Kabuki syndrome [RCV002164105] |
Chr12:49028810 [GRCh38]
Chr12:49422593 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6109+16G>A |
single nucleotide variant |
Kabuki syndrome [RCV002118579] |
Chr12:49042073 [GRCh38]
Chr12:49435856 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10741-15A>G |
single nucleotide variant |
Kabuki syndrome [RCV002118601] |
Chr12:49033979 [GRCh38]
Chr12:49427762 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4237-9C>T |
single nucleotide variant |
Kabuki syndrome [RCV002100898] |
Chr12:49046799 [GRCh38]
Chr12:49440582 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10803A>G (p.Gln3601=) |
single nucleotide variant |
Kabuki syndrome [RCV002084329] |
Chr12:49033902 [GRCh38]
Chr12:49427685 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8934T>G (p.Pro2978=) |
single nucleotide variant |
Kabuki syndrome [RCV002082542] |
Chr12:49038422 [GRCh38]
Chr12:49432205 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3699G>A (p.Glu1233=) |
single nucleotide variant |
Kabuki syndrome [RCV002118645] |
Chr12:49049889 [GRCh38]
Chr12:49443672 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.177-2A>G |
single nucleotide variant |
Kabuki syndrome 1 [RCV002251119] |
Chr12:49054753 [GRCh38]
Chr12:49448536 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.8164G>A (p.Ala2722Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002180298] |
Chr12:49039500 [GRCh38]
Chr12:49433283 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16001A>G (p.Asn5334Ser) |
single nucleotide variant |
See cases [RCV002252914] |
Chr12:49024629 [GRCh38]
Chr12:49418412 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4543G>T (p.Val1515Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002201116] |
Chr12:49046300 [GRCh38]
Chr12:49440083 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15661A>C (p.Thr5221Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002142514] |
Chr12:49026305 [GRCh38]
Chr12:49420088 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14644-11C>T |
single nucleotide variant |
Kabuki syndrome [RCV002082833] |
Chr12:49027333 [GRCh38]
Chr12:49421116 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16572C>T (p.Pro5524=) |
single nucleotide variant |
Kabuki syndrome [RCV002204432] |
Chr12:49021822 [GRCh38]
Chr12:49415605 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.222C>T (p.Pro74=) |
single nucleotide variant |
Kabuki syndrome [RCV002162533] |
Chr12:49054706 [GRCh38]
Chr12:49448489 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4236+17A>G |
single nucleotide variant |
Kabuki syndrome [RCV002155648] |
Chr12:49047948 [GRCh38]
Chr12:49441731 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2673A>G (p.Leu891=) |
single nucleotide variant |
KMT2D-related condition [RCV003893116]|Kabuki syndrome [RCV002176946] |
Chr12:49051010 [GRCh38]
Chr12:49444793 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11988A>T (p.Ala3996=) |
single nucleotide variant |
Kabuki syndrome [RCV002162634] |
Chr12:49032717 [GRCh38]
Chr12:49426500 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.401-13C>T |
single nucleotide variant |
Kabuki syndrome [RCV002199775] |
Chr12:49054429 [GRCh38]
Chr12:49448212 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3162G>A (p.Pro1054=) |
single nucleotide variant |
Kabuki syndrome [RCV002177259] |
Chr12:49050426 [GRCh38]
Chr12:49444209 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7751C>T (p.Thr2584Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002156039] |
Chr12:49040019 [GRCh38]
Chr12:49433802 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11299C>G (p.Gln3767Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002122803]|not provided [RCV003227061] |
Chr12:49033406 [GRCh38]
Chr12:49427189 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5533+13G>A |
single nucleotide variant |
Kabuki syndrome [RCV002103412] |
Chr12:49043350 [GRCh38]
Chr12:49437133 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13930C>G (p.Pro4644Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003269130]|Kabuki syndrome [RCV002121422] |
Chr12:49030349 [GRCh38]
Chr12:49424132 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5031C>G (p.Gly1677=) |
single nucleotide variant |
Kabuki syndrome [RCV002119634] |
Chr12:49044455 [GRCh38]
Chr12:49438238 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1953G>A (p.Ser651=) |
single nucleotide variant |
KMT2D-related condition [RCV003978792]|Kabuki syndrome [RCV002101904] |
Chr12:49051730 [GRCh38]
Chr12:49445513 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4641C>T (p.Ala1547=) |
single nucleotide variant |
KMT2D-related condition [RCV003895959]|Kabuki syndrome [RCV002135705] |
Chr12:49046117 [GRCh38]
Chr12:49439900 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6562C>T (p.Arg2188Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003913770]|Kabuki syndrome [RCV002158083] |
Chr12:49041208 [GRCh38]
Chr12:49434991 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3977G>A (p.Arg1326Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002103570] |
Chr12:49049148 [GRCh38]
Chr12:49442931 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6324G>A (p.Pro2108=) |
single nucleotide variant |
Kabuki syndrome [RCV002184593]|not provided [RCV003395372] |
Chr12:49041446 [GRCh38]
Chr12:49435229 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4506C>T (p.Ala1502=) |
single nucleotide variant |
Kabuki syndrome [RCV002184693] |
Chr12:49046337 [GRCh38]
Chr12:49440120 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15696T>C (p.Ile5232=) |
single nucleotide variant |
Kabuki syndrome [RCV002179459] |
Chr12:49026270 [GRCh38]
Chr12:49420053 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3408G>T (p.Glu1136Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002180852] |
Chr12:49050180 [GRCh38]
Chr12:49443963 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12470A>C (p.Gln4157Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002118034] |
Chr12:49032235 [GRCh38]
Chr12:49426018 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9927C>T (p.Ser3309=) |
single nucleotide variant |
Kabuki syndrome [RCV002123080] |
Chr12:49037429 [GRCh38]
Chr12:49431212 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13774A>C (p.Arg4592=) |
single nucleotide variant |
Kabuki syndrome [RCV002081832] |
Chr12:49030666 [GRCh38]
Chr12:49424449 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3096G>C (p.Leu1032=) |
single nucleotide variant |
Kabuki syndrome [RCV002140992] |
Chr12:49050492 [GRCh38]
Chr12:49444275 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10523G>A (p.Arg3508Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003913601]|Kabuki syndrome [RCV002217120]|not provided [RCV003130688] |
Chr12:49034284 [GRCh38]
Chr12:49428067 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3081C>T (p.Leu1027=) |
single nucleotide variant |
Kabuki syndrome [RCV002181165] |
Chr12:49050507 [GRCh38]
Chr12:49444290 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8031G>A (p.Leu2677=) |
single nucleotide variant |
Kabuki syndrome [RCV002219281] |
Chr12:49039739 [GRCh38]
Chr12:49433522 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12855C>T (p.Gly4285=) |
single nucleotide variant |
Kabuki syndrome [RCV002200457] |
Chr12:49031850 [GRCh38]
Chr12:49425633 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7614C>T (p.Phe2538=) |
single nucleotide variant |
Kabuki syndrome [RCV002161819] |
Chr12:49040156 [GRCh38]
Chr12:49433939 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.401-20A>G |
single nucleotide variant |
Kabuki syndrome [RCV002084284] |
Chr12:49054436 [GRCh38]
Chr12:49448219 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4044C>T (p.Pro1348=) |
single nucleotide variant |
Kabuki syndrome [RCV002141465] |
Chr12:49048746 [GRCh38]
Chr12:49442529 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8829C>T (p.Asn2943=) |
single nucleotide variant |
Kabuki syndrome [RCV002101075] |
Chr12:49038527 [GRCh38]
Chr12:49432310 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10741-17C>T |
single nucleotide variant |
Kabuki syndrome [RCV002122219] |
Chr12:49033981 [GRCh38]
Chr12:49427764 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13905G>A (p.Gln4635=) |
single nucleotide variant |
Kabuki syndrome [RCV002181545] |
Chr12:49030374 [GRCh38]
Chr12:49424157 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10241A>G (p.Lys3414Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003903417]|Kabuki syndrome [RCV002136722] |
Chr12:49034926 [GRCh38]
Chr12:49428709 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4132-14C>T |
single nucleotide variant |
Kabuki syndrome [RCV002122326] |
Chr12:49048083 [GRCh38]
Chr12:49441866 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5468-15dup |
duplication |
Kabuki syndrome [RCV002162304] |
Chr12:49043442..49043443 [GRCh38]
Chr12:49437225..49437226 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8532A>G (p.Glu2844=) |
single nucleotide variant |
Kabuki syndrome [RCV002201175] |
Chr12:49038824 [GRCh38]
Chr12:49432607 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.401-4A>G |
single nucleotide variant |
Kabuki syndrome [RCV002155482] |
Chr12:49054420 [GRCh38]
Chr12:49448203 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13059G>A (p.Pro4353=) |
single nucleotide variant |
Kabuki syndrome [RCV002201240]|not provided [RCV003395421] |
Chr12:49031646 [GRCh38]
Chr12:49425429 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16053-9_16053-5del |
deletion |
Kabuki syndrome [RCV002178727] |
Chr12:49022880..49022884 [GRCh38]
Chr12:49416663..49416667 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11604G>A (p.Gly3868=) |
single nucleotide variant |
Kabuki syndrome [RCV002180284] |
Chr12:49033101 [GRCh38]
Chr12:49426884 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4694-7T>C |
single nucleotide variant |
Kabuki syndrome [RCV002178687] |
Chr12:49045974 [GRCh38]
Chr12:49439757 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13041G>A (p.Gln4347=) |
single nucleotide variant |
Kabuki syndrome [RCV002138776] |
Chr12:49031664 [GRCh38]
Chr12:49425447 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9534C>T (p.His3178=) |
single nucleotide variant |
Kabuki syndrome [RCV002101644] |
Chr12:49037822 [GRCh38]
Chr12:49431605 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10441-10C>T |
single nucleotide variant |
Kabuki syndrome [RCV002184817] |
Chr12:49034486 [GRCh38]
Chr12:49428269 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14643+11G>A |
single nucleotide variant |
Kabuki syndrome [RCV002137096] |
Chr12:49027792 [GRCh38]
Chr12:49421575 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3907-13T>G |
single nucleotide variant |
Kabuki syndrome [RCV002161652] |
Chr12:49049231 [GRCh38]
Chr12:49443014 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4693+20T>G |
single nucleotide variant |
Kabuki syndrome [RCV002183080] |
Chr12:49046045 [GRCh38]
Chr12:49439828 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3255C>G (p.Ala1085=) |
single nucleotide variant |
Kabuki syndrome [RCV002159334] |
Chr12:49050333 [GRCh38]
Chr12:49444116 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5898C>T (p.Pro1966=) |
single nucleotide variant |
KMT2D-related condition [RCV003913782]|Kabuki syndrome [RCV002101939] |
Chr12:49042300 [GRCh38]
Chr12:49436083 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14814C>T (p.Thr4938=) |
single nucleotide variant |
Kabuki syndrome [RCV002158057] |
Chr12:49027152 [GRCh38]
Chr12:49420935 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13999+8_13999+9del |
deletion |
Kabuki syndrome [RCV002220701] |
Chr12:49030271..49030272 [GRCh38]
Chr12:49424054..49424055 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6816G>T (p.Leu2272=) |
single nucleotide variant |
KMT2D-related condition [RCV003958788]|Kabuki syndrome [RCV002159909] |
Chr12:49040954 [GRCh38]
Chr12:49434737 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3729G>C (p.Gly1243=) |
single nucleotide variant |
Kabuki syndrome [RCV002202088] |
Chr12:49049859 [GRCh38]
Chr12:49443642 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2258C>G (p.Ser753Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002202205] |
Chr12:49051425 [GRCh38]
Chr12:49445208 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6987C>T (p.Ala2329=) |
single nucleotide variant |
KMT2D-related condition [RCV003896044]|Kabuki syndrome [RCV002203330] |
Chr12:49040783 [GRCh38]
Chr12:49434566 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5783-9G>A |
single nucleotide variant |
KMT2D-related condition [RCV003896002]|Kabuki syndrome [RCV002154541] |
Chr12:49042654 [GRCh38]
Chr12:49436437 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7058C>T (p.Pro2353Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002137772] |
Chr12:49040712 [GRCh38]
Chr12:49434495 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12207C>T (p.Leu4069=) |
single nucleotide variant |
Kabuki syndrome [RCV002179651] |
Chr12:49032498 [GRCh38]
Chr12:49426281 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3183A>G (p.Val1061=) |
single nucleotide variant |
Kabuki syndrome [RCV002081987] |
Chr12:49050405 [GRCh38]
Chr12:49444188 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6348G>C (p.Pro2116=) |
single nucleotide variant |
Kabuki syndrome [RCV002154921] |
Chr12:49041422 [GRCh38]
Chr12:49435205 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7495C>A (p.Pro2499Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002098970] |
Chr12:49040275 [GRCh38]
Chr12:49434058 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.846T>C (p.Pro282=) |
single nucleotide variant |
Kabuki syndrome [RCV002082415] |
Chr12:49053315 [GRCh38]
Chr12:49447098 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4021-11C>A |
single nucleotide variant |
Kabuki syndrome [RCV002141522] |
Chr12:49048780 [GRCh38]
Chr12:49442563 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9933G>A (p.Gln3311=) |
single nucleotide variant |
Kabuki syndrome [RCV002082652] |
Chr12:49037423 [GRCh38]
Chr12:49431206 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12075A>G (p.Glu4025=) |
single nucleotide variant |
Kabuki syndrome [RCV002141699] |
Chr12:49032630 [GRCh38]
Chr12:49426413 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3234T>G (p.Val1078=) |
single nucleotide variant |
Kabuki syndrome [RCV002204242] |
Chr12:49050354 [GRCh38]
Chr12:49444137 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6954C>G (p.Gly2318=) |
single nucleotide variant |
Kabuki syndrome [RCV002160488] |
Chr12:49040816 [GRCh38]
Chr12:49434599 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5319+12G>A |
single nucleotide variant |
Kabuki syndrome [RCV002144220] |
Chr12:49043856 [GRCh38]
Chr12:49437639 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13440C>T (p.Ser4480=) |
single nucleotide variant |
Kabuki syndrome [RCV002099133]|not provided [RCV003395400] |
Chr12:49031265 [GRCh38]
Chr12:49425048 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.50-18G>A |
single nucleotide variant |
Kabuki syndrome [RCV002199256] |
Chr12:49055044 [GRCh38]
Chr12:49448827 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3366A>C (p.Thr1122=) |
single nucleotide variant |
KMT2D-related condition [RCV003895949]|Kabuki syndrome [RCV002139933] |
Chr12:49050222 [GRCh38]
Chr12:49444005 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9399A>G (p.Gln3133=) |
single nucleotide variant |
KMT2D-related condition [RCV003926298]|Kabuki syndrome [RCV002181821] |
Chr12:49037957 [GRCh38]
Chr12:49431740 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4851G>A (p.Arg1617=) |
single nucleotide variant |
Kabuki syndrome [RCV002103156] |
Chr12:49044856 [GRCh38]
Chr12:49438639 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3313G>A (p.Ala1105Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002218093] |
Chr12:49050275 [GRCh38]
Chr12:49444058 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14075+9G>A |
single nucleotide variant |
KMT2D-related condition [RCV003984192]|Kabuki syndrome [RCV002122277] |
Chr12:49029392 [GRCh38]
Chr12:49423175 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2839G>T (p.Ala947Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002159106] |
Chr12:49050749 [GRCh38]
Chr12:49444532 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5188+7C>T |
single nucleotide variant |
Kabuki syndrome [RCV002159156] |
Chr12:49044193 [GRCh38]
Chr12:49437976 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6576A>G (p.Ala2192=) |
single nucleotide variant |
Kabuki syndrome [RCV002101483] |
Chr12:49041194 [GRCh38]
Chr12:49434977 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12534C>T (p.Val4178=) |
single nucleotide variant |
Kabuki syndrome [RCV002101784] |
Chr12:49032171 [GRCh38]
Chr12:49425954 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13987A>C (p.Arg4663=) |
single nucleotide variant |
Kabuki syndrome [RCV002182726] |
Chr12:49030292 [GRCh38]
Chr12:49424075 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7386A>G (p.Pro2462=) |
single nucleotide variant |
Kabuki syndrome [RCV003110463] |
Chr12:49040384 [GRCh38]
Chr12:49434167 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16175G>A (p.Arg5392His) |
single nucleotide variant |
Kabuki syndrome [RCV003110890] |
Chr12:49022753 [GRCh38]
Chr12:49416536 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15894G>A (p.Val5298=) |
single nucleotide variant |
Kabuki syndrome [RCV003110529] |
Chr12:49024837 [GRCh38]
Chr12:49418620 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6211C>T (p.His2071Tyr) |
single nucleotide variant |
not provided [RCV003110085] |
Chr12:49041678 [GRCh38]
Chr12:49435461 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11764C>T (p.Gln3922Ter) |
single nucleotide variant |
not provided [RCV003110114] |
Chr12:49032941 [GRCh38]
Chr12:49426724 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6653C>T (p.Pro2218Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003393143] |
Chr12:49041117 [GRCh38]
Chr12:49434900 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16413-11C>T |
single nucleotide variant |
Kabuki syndrome [RCV003110334] |
Chr12:49022162 [GRCh38]
Chr12:49415945 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3894C>T (p.Ser1298=) |
single nucleotide variant |
Kabuki syndrome [RCV003118009] |
Chr12:49049694 [GRCh38]
Chr12:49443477 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3964C>T (p.Arg1322Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003115220] |
Chr12:49049161 [GRCh38]
Chr12:49442944 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15712C>T (p.Arg5238Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003115251] |
Chr12:49026254 [GRCh38]
Chr12:49420037 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14165T>G (p.Phe4722Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003118102] |
Chr12:49029147 [GRCh38]
Chr12:49422930 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8154C>A (p.Gly2718=) |
single nucleotide variant |
Kabuki syndrome [RCV003115258] |
Chr12:49039510 [GRCh38]
Chr12:49433293 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8411A>T (p.Tyr2804Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003116929] |
Chr12:49038945 [GRCh38]
Chr12:49432728 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2536C>T (p.Pro846Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003111912] |
Chr12:49051147 [GRCh38]
Chr12:49444930 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7806G>T (p.Gly2602=) |
single nucleotide variant |
Kabuki syndrome [RCV003111913] |
Chr12:49039964 [GRCh38]
Chr12:49433747 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15855T>G (p.Pro5285=) |
single nucleotide variant |
Kabuki syndrome [RCV003116963] |
Chr12:49024876 [GRCh38]
Chr12:49418659 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2687G>A (p.Gly896Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003111969] |
Chr12:49050996 [GRCh38]
Chr12:49444779 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.190C>T (p.Arg64Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003115013] |
Chr12:49054738 [GRCh38]
Chr12:49448521 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.401-17T>C |
single nucleotide variant |
Kabuki syndrome [RCV003112857] |
Chr12:49054433 [GRCh38]
Chr12:49448216 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9946G>A (p.Gly3316Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003118529] |
Chr12:49037410 [GRCh38]
Chr12:49431193 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4731G>A (p.Val1577=) |
single nucleotide variant |
Kabuki syndrome [RCV003121284] |
Chr12:49045930 [GRCh38]
Chr12:49439713 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16046A>G (p.Tyr5349Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003118780] |
Chr12:49024584 [GRCh38]
Chr12:49418367 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.420T>C (p.His140=) |
single nucleotide variant |
Kabuki syndrome [RCV003118783] |
Chr12:49054397 [GRCh38]
Chr12:49448180 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8046+7T>G |
single nucleotide variant |
Kabuki syndrome [RCV003121502] |
Chr12:49039717 [GRCh38]
Chr12:49433500 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11975A>G (p.Gln3992Arg) |
single nucleotide variant |
not provided [RCV003120408] |
Chr12:49032730 [GRCh38]
Chr12:49426513 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11675dup (p.Pro3893fs) |
duplication |
See cases [RCV003156167] |
Chr12:49033029..49033030 [GRCh38]
Chr12:49426812..49426813 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10496_10497del (p.Gln3499fs) |
deletion |
Kabuki syndrome 1 [RCV003147894] |
Chr12:49034420..49034421 [GRCh38]
Chr12:49428203..49428204 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8003_8007del (p.Gly2668fs) |
deletion |
Kabuki syndrome 1 [RCV003147926] |
Chr12:49039763..49039767 [GRCh38]
Chr12:49433546..49433550 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11568GCA[2] (p.Gln3861_Gln3863del) |
microsatellite |
Kabuki syndrome 1 [RCV003148274] |
Chr12:49033123..49033131 [GRCh38]
Chr12:49426906..49426914 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| KMT2D, ARG2099TER |
single nucleotide variant |
Kabuki syndrome 1 [RCV003152325] |
|
pathogenic |
| NM_003482.4(KMT2D):c.10582C>G (p.Leu3528Val) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003152327] |
Chr12:49034225 [GRCh38]
Chr12:49428008 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14868del (p.Glu4957fs) |
deletion |
Kabuki syndrome 1 [RCV003149111] |
Chr12:49027098 [GRCh38]
Chr12:49420881 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4870del (p.Ala1624fs) |
deletion |
Kabuki syndrome 1 [RCV003149112] |
Chr12:49044837 [GRCh38]
Chr12:49438620 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12395del (p.His4132fs) |
deletion |
Kabuki syndrome 1 [RCV003149114] |
Chr12:49032310 [GRCh38]
Chr12:49426093 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14216_14217del (p.Pro4739fs) |
deletion |
Kabuki syndrome 1 [RCV003149115] |
Chr12:49029095..49029096 [GRCh38]
Chr12:49422878..49422879 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16084_16085del (p.Lys5362fs) |
deletion |
Kabuki syndrome 1 [RCV003149119] |
Chr12:49022843..49022844 [GRCh38]
Chr12:49416626..49416627 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10942C>A (p.Pro3648Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002273140] |
Chr12:49033763 [GRCh38]
Chr12:49427546 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2471T>G (p.Leu824Trp) |
single nucleotide variant |
not specified [RCV002247938] |
Chr12:49051212 [GRCh38]
Chr12:49444995 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002250083] |
Chr12:49026977 [GRCh38]
Chr12:49420760 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9365T>C (p.Val3122Ala) |
single nucleotide variant |
See cases [RCV002252633] |
Chr12:49037991 [GRCh38]
Chr12:49431774 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6805_6811del (p.Ser2269fs) |
deletion |
Kabuki syndrome 1 [RCV003153147] |
Chr12:49040959..49040965 [GRCh38]
Chr12:49434742..49434748 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5666A>G (p.Lys1889Arg) |
single nucleotide variant |
not provided [RCV002244576] |
Chr12:49042857 [GRCh38]
Chr12:49436640 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10018C>T (p.Gln3340Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002245294] |
Chr12:49037338 [GRCh38]
Chr12:49431121 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3734C>G (p.Ser1245Cys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002227653] |
Chr12:49049854 [GRCh38]
Chr12:49443637 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16412+2_16412+16del |
deletion |
Kabuki syndrome 1 [RCV002249089] |
Chr12:49022264..49022278 [GRCh38]
Chr12:49416047..49416061 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10868A>G (p.Gln3623Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002253065] |
Chr12:49033837 [GRCh38]
Chr12:49427620 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15370A>G (p.Met5124Val) |
single nucleotide variant |
not specified [RCV003151552] |
Chr12:49026596 [GRCh38]
Chr12:49420379 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10658G>T (p.Gly3553Val) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003152329] |
Chr12:49034149 [GRCh38]
Chr12:49427932 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11503C>T (p.Leu3835Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003148228] |
Chr12:49033202 [GRCh38]
Chr12:49426985 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16321A>G (p.Lys5441Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003377931]|not provided [RCV003131397] |
Chr12:49022607 [GRCh38]
Chr12:49416390 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14467C>T (p.Pro4823Ser) |
single nucleotide variant |
not provided [RCV003129194] |
Chr12:49028057 [GRCh38]
Chr12:49421840 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3907-2_3907-1del |
deletion |
Kabuki syndrome 1 [RCV002226842] |
Chr12:49049219..49049220 [GRCh38]
Chr12:49443002..49443003 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10394dup (p.Pro3466fs) |
duplication |
Kabuki syndrome 1 [RCV003149100] |
Chr12:49034627..49034628 [GRCh38]
Chr12:49428410..49428411 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5783-1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV003149102] |
Chr12:49042646 [GRCh38]
Chr12:49436429 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13999_13999+12del |
deletion |
Kabuki syndrome 1 [RCV003149105] |
Chr12:49030268..49030280 [GRCh38]
Chr12:49424051..49424063 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.349C>T (p.Gln117Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003149107] |
Chr12:49054579 [GRCh38]
Chr12:49448362 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15194G>C (p.Trp5065Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003149110] |
Chr12:49026772 [GRCh38]
Chr12:49420555 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8521C>G (p.Pro2841Ala) |
single nucleotide variant |
not provided [RCV003235861] |
Chr12:49038835 [GRCh38]
Chr12:49432618 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3316C>G (p.Pro1106Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753265]|not provided [RCV003237117] |
Chr12:49050272 [GRCh38]
Chr12:49444055 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7811G>T (p.Ser2604Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003420626]|not provided [RCV003235929] |
Chr12:49039959 [GRCh38]
Chr12:49433742 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8378_8389del (p.Gly2793_Gln2796del) |
deletion |
not provided [RCV003231676] |
Chr12:49038967..49038978 [GRCh38]
Chr12:49432750..49432761 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8060G>A (p.Arg2687Gln) |
single nucleotide variant |
not provided [RCV003231778] |
Chr12:49039604 [GRCh38]
Chr12:49433387 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8074C>T (p.Arg2692Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003234827] |
Chr12:49039590 [GRCh38]
Chr12:49433373 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12371C>T (p.Ser4124Phe) |
single nucleotide variant |
not provided [RCV002265177] |
Chr12:49032334 [GRCh38]
Chr12:49426117 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14216C>T (p.Pro4739Leu) |
single nucleotide variant |
not provided [RCV002267410] |
Chr12:49029096 [GRCh38]
Chr12:49422879 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14803G>A (p.Glu4935Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003095961]|not provided [RCV002262386] |
Chr12:49027163 [GRCh38]
Chr12:49420946 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003774916]|not provided [RCV002279000] |
Chr12:49026634 [GRCh38]
Chr12:49420417 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15182A>C (p.Asn5061Thr) |
single nucleotide variant |
not provided [RCV002279063] |
Chr12:49026784 [GRCh38]
Chr12:49420567 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003096226]|Kabuki syndrome 1 [RCV002275664]|Kabuki syndrome [RCV003096225] |
Chr12:49037401 [GRCh38]
Chr12:49431184 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His) |
single nucleotide variant |
KMT2D-related condition [RCV003403770]|Kabuki syndrome 1 [RCV002275671]|Kabuki syndrome [RCV003753223] |
Chr12:49049692 [GRCh38]
Chr12:49443475 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5849C>T (p.Ser1950Phe) |
single nucleotide variant |
not provided [RCV002275763] |
Chr12:49042579 [GRCh38]
Chr12:49436362 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7111C>A (p.Pro2371Thr) |
single nucleotide variant |
not provided [RCV002269509] |
Chr12:49040659 [GRCh38]
Chr12:49434442 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11513C>G (p.Pro3838Arg) |
single nucleotide variant |
not provided [RCV002269556] |
Chr12:49033192 [GRCh38]
Chr12:49426975 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14177G>A (p.Gly4726Asp) |
single nucleotide variant |
not provided [RCV002267270] |
Chr12:49029135 [GRCh38]
Chr12:49422918 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1631C>T (p.Pro544Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753222]|not provided [RCV002265204] |
Chr12:49052052 [GRCh38]
Chr12:49445835 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15457C>T (p.Arg5153Trp) |
single nucleotide variant |
not provided [RCV002267399] |
Chr12:49026509 [GRCh38]
Chr12:49420292 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1016G>A (p.Trp339Ter) |
single nucleotide variant |
not provided [RCV002265509] |
Chr12:49053011 [GRCh38]
Chr12:49446794 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5753_5782+7delinsTCTTCA |
indel |
not provided [RCV002276374] |
Chr12:49042734..49042770 [GRCh38]
Chr12:49436517..49436553 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.177-1G>A |
single nucleotide variant |
Kabuki syndrome 1 [RCV002288345] |
Chr12:49054752 [GRCh38]
Chr12:49448535 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10993C>T (p.Pro3665Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002288361] |
Chr12:49033712 [GRCh38]
Chr12:49427495 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9178G>A (p.Gly3060Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002291072] |
Chr12:49038178 [GRCh38]
Chr12:49431961 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003403772]|Kabuki syndrome 1 [RCV002275674]|Kabuki syndrome [RCV003096227]|not specified [RCV003403771] |
Chr12:49032100 [GRCh38]
Chr12:49425883 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11077G>C (p.Ala3693Pro) |
single nucleotide variant |
not provided [RCV002269679] |
Chr12:49033628 [GRCh38]
Chr12:49427411 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6551C>A (p.Pro2184His) |
single nucleotide variant |
not provided [RCV002293693] |
Chr12:49041219 [GRCh38]
Chr12:49435002 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4419-2A>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV002283856] |
Chr12:49046426 [GRCh38]
Chr12:49440209 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.94G>C (p.Asp32His) |
single nucleotide variant |
not provided [RCV002276289] |
Chr12:49054982 [GRCh38]
Chr12:49448765 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11843_11851dup (p.Gln3950_Gln3951insLeuGlnGln) |
duplication |
not provided [RCV002276332] |
Chr12:49032853..49032854 [GRCh38]
Chr12:49426636..49426637 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) |
single nucleotide variant |
KMT2D-related condition [RCV003896099]|Kabuki syndrome 1 [RCV002266888]|Kabuki syndrome [RCV003588793] |
Chr12:49030328 [GRCh38]
Chr12:49424111 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13889dup (p.Pro4631fs) |
duplication |
Neurodevelopmental disorder [RCV002277647] |
Chr12:49030389..49030390 [GRCh38]
Chr12:49424172..49424173 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16529A>G (p.Tyr5510Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753224]|Neurodevelopmental disorder [RCV002277680] |
Chr12:49021865 [GRCh38]
Chr12:49415648 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.10357C>G (p.Gln3453Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002289490] |
Chr12:49034665 [GRCh38]
Chr12:49428448 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11890C>T (p.Gln3964Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002285246] |
Chr12:49032815 [GRCh38]
Chr12:49426598 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13789A>G (p.Ser4597Gly) |
single nucleotide variant |
not provided [RCV003236214] |
Chr12:49030651 [GRCh38]
Chr12:49424434 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12737C>T (p.Pro4246Leu) |
single nucleotide variant |
not specified [RCV003236525] |
Chr12:49031968 [GRCh38]
Chr12:49425751 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2115_2141del (p.Pro706_Ser714del) |
deletion |
not provided [RCV002265335] |
Chr12:49051542..49051568 [GRCh38]
Chr12:49445325..49445351 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5857C>G (p.Leu1953Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002289066] |
Chr12:49042571 [GRCh38]
Chr12:49436354 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12992C>A (p.Pro4331His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002290314] |
Chr12:49031713 [GRCh38]
Chr12:49425496 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6815T>G (p.Leu2272Arg) |
single nucleotide variant |
not provided [RCV002292064] |
Chr12:49040955 [GRCh38]
Chr12:49434738 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6173C>A (p.Ala2058Asp) |
single nucleotide variant |
not provided [RCV002292191] |
Chr12:49041927 [GRCh38]
Chr12:49435710 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9472C>G (p.Gln3158Glu) |
single nucleotide variant |
not provided [RCV002273549] |
Chr12:49037884 [GRCh38]
Chr12:49431667 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2370_2396del (p.Ala792_Gln800del) |
deletion |
Kabuki syndrome [RCV003753226]|not provided [RCV002281345] |
Chr12:49051287..49051313 [GRCh38]
Chr12:49445070..49445096 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2544del (p.Glu848fs) |
deletion |
Neurodevelopmental delay [RCV002274415] |
Chr12:49051139 [GRCh38]
Chr12:49444922 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10471C>T (p.Arg3491Cys) |
single nucleotide variant |
not provided [RCV002274796] |
Chr12:49034446 [GRCh38]
Chr12:49428229 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10835_10836delinsGA (p.Gln3612Arg) |
indel |
Kabuki syndrome [RCV003096354]|not provided [RCV002283265] |
Chr12:49033869..49033870 [GRCh38]
Chr12:49427652..49427653 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003101522]|Kabuki syndrome [RCV003588794]|not provided [RCV002267217] |
Chr12:49022655 [GRCh38]
Chr12:49416438 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11009G>A (p.Gly3670Asp) |
single nucleotide variant |
not provided [RCV002293955] |
Chr12:49033696 [GRCh38]
Chr12:49427479 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15496G>A (p.Ala5166Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002297320] |
Chr12:49026470 [GRCh38]
Chr12:49420253 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10552C>T (p.Gln3518Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002274302] |
Chr12:49034255 [GRCh38]
Chr12:49428038 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14446G>C (p.Glu4816Gln) |
single nucleotide variant |
not provided [RCV002269705] |
Chr12:49028078 [GRCh38]
Chr12:49421861 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11554C>G (p.Leu3852Val) |
single nucleotide variant |
Kabuki syndrome [RCV002297228] |
Chr12:49033151 [GRCh38]
Chr12:49426934 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.510G>A (p.Gln170=) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002468734] |
Chr12:49054307 [GRCh38]
Chr12:49448090 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8626C>T (p.Gln2876Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003148550] |
Chr12:49038730 [GRCh38]
Chr12:49432513 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2143C>G (p.Leu715Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003261540] |
Chr12:49051540 [GRCh38]
Chr12:49445323 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14251+1G>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV003149101] |
Chr12:49029060 [GRCh38]
Chr12:49422843 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6183+3G>T |
single nucleotide variant |
Kabuki syndrome 1 [RCV003149103] |
Chr12:49041914 [GRCh38]
Chr12:49435697 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1002T>A (p.Asn334Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003257717] |
Chr12:49053025 [GRCh38]
Chr12:49446808 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8203G>A (p.Gly2735Ser) |
single nucleotide variant |
not provided [RCV003149256] |
Chr12:49039461 [GRCh38]
Chr12:49433244 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14371G>A (p.Ala4791Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003303903] |
Chr12:49028839 [GRCh38]
Chr12:49422622 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10625T>C (p.Leu3542Pro) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003152328] |
Chr12:49034182 [GRCh38]
Chr12:49427965 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13324G>A (p.Ala4442Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003148101]|Kabuki syndrome [RCV003778887] |
Chr12:49031381 [GRCh38]
Chr12:49425164 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4318T>C (p.Ser1440Pro) |
single nucleotide variant |
not provided [RCV003129542] |
Chr12:49046709 [GRCh38]
Chr12:49440492 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13663C>A (p.Leu4555Met) |
single nucleotide variant |
Kabuki syndrome [RCV002750598] |
Chr12:49030901 [GRCh38]
Chr12:49424684 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.370C>T (p.Leu124Phe) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002472242] |
Chr12:49054558 [GRCh38]
Chr12:49448341 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15473del (p.Glu5158fs) |
deletion |
Kabuki syndrome [RCV003012111] |
Chr12:49026493 [GRCh38]
Chr12:49420276 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.565T>C (p.Cys189Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002302198] |
Chr12:49054086 [GRCh38]
Chr12:49447869 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15108_15110del (p.His5036_Glu5037delinsGln) |
deletion |
Kabuki syndrome 1 [RCV002466280] |
Chr12:49026856..49026858 [GRCh38]
Chr12:49420639..49420641 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3992C>T (p.Ser1331Leu) |
single nucleotide variant |
not provided [RCV003156585] |
Chr12:49049133 [GRCh38]
Chr12:49442916 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14354T>C (p.Met4785Thr) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002472034] |
Chr12:49028856 [GRCh38]
Chr12:49422639 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4198T>C (p.Cys1400Arg) |
single nucleotide variant |
not provided [RCV002464820] |
Chr12:49048003 [GRCh38]
Chr12:49441786 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11233_11277dup (p.Gln3759_Gly3760insGlnHisLeuLeuGlyGlnValAlaIleGlnGlnGlnGlnGlnGln) |
duplication |
not provided [RCV002474149] |
Chr12:49033427..49033428 [GRCh38]
Chr12:49427210..49427211 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003408285]|Kabuki syndrome 1 [RCV002466899]|Kabuki syndrome [RCV003108119] |
Chr12:49037866 [GRCh38]
Chr12:49431649 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7778C>A (p.Pro2593His) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002470333] |
Chr12:49039992 [GRCh38]
Chr12:49433775 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8699C>T (p.Pro2900Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002472169] |
Chr12:49038657 [GRCh38]
Chr12:49432440 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13090C>T (p.Gln4364Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003149036]|not provided [RCV002505981] |
Chr12:49031615 [GRCh38]
Chr12:49425398 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4877T>C (p.Leu1626Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002470419] |
Chr12:49044830 [GRCh38]
Chr12:49438613 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1183C>A (p.Gln395Lys) |
single nucleotide variant |
not provided [RCV002464673] |
Chr12:49052639 [GRCh38]
Chr12:49446422 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14059C>T (p.Gln4687Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002470570] |
Chr12:49029417 [GRCh38]
Chr12:49423200 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3588dup (p.Pro1197fs) |
duplication |
not provided [RCV002505980] |
Chr12:49049999..49050000 [GRCh38]
Chr12:49443782..49443783 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16391_16392insAG (p.Leu5465fs) |
insertion |
not provided [RCV002505982] |
Chr12:49022300..49022301 [GRCh38]
Chr12:49416083..49416084 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4405_4413del (p.Trp1469_Cys1471del) |
deletion |
Lung cancer [RCV002465300] |
Chr12:49046614..49046622 [GRCh38]
Chr12:49440397..49440405 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7156C>T (p.Arg2386Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002573590]|Kabuki syndrome [RCV003775497]|not provided [RCV002467239] |
Chr12:49040614 [GRCh38]
Chr12:49434397 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys) |
indel |
Kabuki syndrome 1 [RCV002467432] |
Chr12:49026369..49026370 [GRCh38]
Chr12:49420152..49420153 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15533T>A (p.Phe5178Tyr) |
single nucleotide variant |
not provided [RCV003129449] |
Chr12:49026433 [GRCh38]
Chr12:49420216 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.839+1del |
deletion |
Kabuki syndrome 1 [RCV003149104] |
Chr12:49053475 [GRCh38]
Chr12:49447258 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5389C>G (p.Pro1797Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002303816] |
Chr12:49043713 [GRCh38]
Chr12:49437496 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4756C>G (p.Arg1586Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002298231] |
Chr12:49044951 [GRCh38]
Chr12:49438734 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5843G>C (p.Cys1948Ser) |
single nucleotide variant |
not provided [RCV003235822] |
Chr12:49042585 [GRCh38]
Chr12:49436368 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12175G>A (p.Ala4059Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002301633] |
Chr12:49032530 [GRCh38]
Chr12:49426313 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7804G>A (p.Gly2602Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002304739] |
Chr12:49039966 [GRCh38]
Chr12:49433749 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7995G>T (p.Gln2665His) |
single nucleotide variant |
not provided [RCV002305922] |
Chr12:49039775 [GRCh38]
Chr12:49433558 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13012C>T (p.Pro4338Ser) |
single nucleotide variant |
not provided [RCV002305927] |
Chr12:49031693 [GRCh38]
Chr12:49425476 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2089C>T (p.Pro697Ser) |
single nucleotide variant |
not provided [RCV003131398] |
Chr12:49051594 [GRCh38]
Chr12:49445377 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11381C>T (p.Pro3794Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002304882] |
Chr12:49033324 [GRCh38]
Chr12:49427107 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3937C>G (p.Arg1313Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002304935] |
Chr12:49049188 [GRCh38]
Chr12:49442971 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6115T>C (p.Ser2039Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002305274] |
Chr12:49041985 [GRCh38]
Chr12:49435768 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14525A>G (p.Glu4842Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002305299] |
Chr12:49027921 [GRCh38]
Chr12:49421704 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9626T>G (p.Leu3209Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002305320] |
Chr12:49037730 [GRCh38]
Chr12:49431513 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7360C>A (p.Pro2454Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002305353] |
Chr12:49040410 [GRCh38]
Chr12:49434193 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11032G>T (p.Ala3678Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002296616] |
Chr12:49033673 [GRCh38]
Chr12:49427456 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7675C>T (p.Pro2559Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002301910] |
Chr12:49040095 [GRCh38]
Chr12:49433878 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14431A>T (p.Ile4811Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002295269] |
Chr12:49028093 [GRCh38]
Chr12:49421876 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7351T>C (p.Ser2451Pro) |
single nucleotide variant |
not provided [RCV002300885] |
Chr12:49040419 [GRCh38]
Chr12:49434202 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2438C>G (p.Pro813Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002302001] |
Chr12:49051245 [GRCh38]
Chr12:49445028 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12560G>A (p.Gly4187Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002296786] |
Chr12:49032145 [GRCh38]
Chr12:49425928 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15736A>G (p.Ile5246Val) |
single nucleotide variant |
Kabuki syndrome [RCV002299106] |
Chr12:49026230 [GRCh38]
Chr12:49420013 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2126C>A (p.Pro709Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002296107] |
Chr12:49051557 [GRCh38]
Chr12:49445340 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11752C>G (p.Gln3918Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002296564] |
Chr12:49032953 [GRCh38]
Chr12:49426736 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2924C>T (p.Ala975Val) |
single nucleotide variant |
Kabuki syndrome [RCV002301775] |
Chr12:49050664 [GRCh38]
Chr12:49444447 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11869C>G (p.Gln3957Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002300156] |
Chr12:49032836 [GRCh38]
Chr12:49426619 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2366C>A (p.Ser789Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002301897] |
Chr12:49051317 [GRCh38]
Chr12:49445100 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5326_5327delinsGC (p.Phe1776Ala) |
indel |
Kabuki syndrome [RCV002301179] |
Chr12:49043775..49043776 [GRCh38]
Chr12:49437558..49437559 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.77C>T (p.Pro26Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002302096] |
Chr12:49054999 [GRCh38]
Chr12:49448782 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3317C>G (p.Pro1106Arg) |
single nucleotide variant |
not specified [RCV002302607] |
Chr12:49050271 [GRCh38]
Chr12:49444054 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.884A>G (p.Asp295Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002299760] |
Chr12:49053277 [GRCh38]
Chr12:49447060 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5047G>A (p.Glu1683Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002301681] |
Chr12:49044439 [GRCh38]
Chr12:49438222 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5437G>A (p.Glu1813Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002302184] |
Chr12:49043665 [GRCh38]
Chr12:49437448 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2737_2748del (p.Glu913_Pro916del) |
deletion |
Kabuki syndrome [RCV003588805]|not provided [RCV002308760] |
Chr12:49050935..49050946 [GRCh38]
Chr12:49444718..49444729 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.716G>A (p.Cys239Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002301830] |
Chr12:49053599 [GRCh38]
Chr12:49447382 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7479del (p.Phe2494fs) |
deletion |
not provided [RCV002300935] |
Chr12:49040291 [GRCh38]
Chr12:49434074 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6769G>T (p.Val2257Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002299098] |
Chr12:49041001 [GRCh38]
Chr12:49434784 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3820G>T (p.Asp1274Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002301147] |
Chr12:49049768 [GRCh38]
Chr12:49443551 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16467C>G (p.Asp5489Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002301883] |
Chr12:49022097 [GRCh38]
Chr12:49415880 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6133A>C (p.Ile2045Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002296604] |
Chr12:49041967 [GRCh38]
Chr12:49435750 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6794G>C (p.Gly2265Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002301533] |
Chr12:49040976 [GRCh38]
Chr12:49434759 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2122T>C (p.Ser708Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002301933] |
Chr12:49051561 [GRCh38]
Chr12:49445344 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2155C>T (p.Pro719Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002298059] |
Chr12:49051528 [GRCh38]
Chr12:49445311 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12365G>T (p.Gly4122Val) |
single nucleotide variant |
Kabuki syndrome [RCV002302034] |
Chr12:49032340 [GRCh38]
Chr12:49426123 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8032G>C (p.Glu2678Gln) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002302428]|Kabuki syndrome [RCV003098014]|not provided [RCV003395452] |
Chr12:49039738 [GRCh38]
Chr12:49433521 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2366C>G (p.Ser789Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002299657] |
Chr12:49051317 [GRCh38]
Chr12:49445100 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3033G>A (p.Pro1011=) |
single nucleotide variant |
KMT2D-related condition [RCV003898859]|Kabuki syndrome [RCV002615754] |
Chr12:49050555 [GRCh38]
Chr12:49444338 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7505del (p.Pro2502fs) |
deletion |
Kabuki syndrome [RCV002970820] |
Chr12:49040265 [GRCh38]
Chr12:49434048 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15876G>A (p.Glu5292=) |
single nucleotide variant |
Kabuki syndrome [RCV002731583] |
Chr12:49024855 [GRCh38]
Chr12:49418638 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8029C>T (p.Leu2677=) |
single nucleotide variant |
Kabuki syndrome [RCV002775332] |
Chr12:49039741 [GRCh38]
Chr12:49433524 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12573G>A (p.Met4191Ile) |
single nucleotide variant |
not provided [RCV002511733] |
Chr12:49032132 [GRCh38]
Chr12:49425915 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16295G>T (p.Arg5432Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002880427] |
Chr12:49022633 [GRCh38]
Chr12:49416416 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.11269C>G (p.Gln3757Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002681331] |
Chr12:49033436 [GRCh38]
Chr12:49427219 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4267C>A (p.Arg1423Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002858281] |
Chr12:49046760 [GRCh38]
Chr12:49440543 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14139C>T (p.Ser4713=) |
single nucleotide variant |
Kabuki syndrome [RCV003014873] |
Chr12:49029173 [GRCh38]
Chr12:49422956 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5448A>T (p.Glu1816Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002906128] |
Chr12:49043654 [GRCh38]
Chr12:49437437 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15976C>T (p.Leu5326Phe) |
single nucleotide variant |
not provided [RCV002462693] |
Chr12:49024654 [GRCh38]
Chr12:49418437 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4812C>T (p.Thr1604=) |
single nucleotide variant |
KMT2D-related condition [RCV003898662]|Kabuki syndrome [RCV002967855] |
Chr12:49044895 [GRCh38]
Chr12:49438678 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15152A>G (p.Asn5051Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002774892] |
Chr12:49026814 [GRCh38]
Chr12:49420597 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14515+11C>T |
single nucleotide variant |
Kabuki syndrome [RCV002967698] |
Chr12:49027998 [GRCh38]
Chr12:49421781 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10440+13G>T |
single nucleotide variant |
Kabuki syndrome [RCV002862931] |
Chr12:49034569 [GRCh38]
Chr12:49428352 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13925T>C (p.Val4642Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002681652] |
Chr12:49030354 [GRCh38]
Chr12:49424137 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13840-10dup |
duplication |
KMT2D-related condition [RCV003961146]|Kabuki syndrome [RCV002881114] |
Chr12:49030448..49030449 [GRCh38]
Chr12:49424231..49424232 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14815G>A (p.Glu4939Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002512458] |
Chr12:49027151 [GRCh38]
Chr12:49420934 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7538G>C (p.Gly2513Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003032891] |
Chr12:49040232 [GRCh38]
Chr12:49434015 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3057C>G (p.Pro1019=) |
single nucleotide variant |
Kabuki syndrome [RCV002726511] |
Chr12:49050531 [GRCh38]
Chr12:49444314 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13375_13397del (p.Gly4459fs) |
deletion |
Kabuki syndrome [RCV002838465] |
Chr12:49031308..49031330 [GRCh38]
Chr12:49425091..49425113 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12162C>T (p.Thr4054=) |
single nucleotide variant |
Kabuki syndrome [RCV002615440] |
Chr12:49032543 [GRCh38]
Chr12:49426326 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15272A>G (p.Lys5091Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002858220] |
Chr12:49026694 [GRCh38]
Chr12:49420477 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5371G>A (p.Ala1791Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002838816] |
Chr12:49043731 [GRCh38]
Chr12:49437514 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6692C>T (p.Pro2231Leu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002510549] |
Chr12:49041078 [GRCh38]
Chr12:49434861 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7335G>C (p.Gln2445His) |
single nucleotide variant |
Kabuki syndrome [RCV002775482] |
Chr12:49040435 [GRCh38]
Chr12:49434218 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15926C>A (p.Pro5309His) |
single nucleotide variant |
Kabuki syndrome [RCV003012343] |
Chr12:49024704 [GRCh38]
Chr12:49418487 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6110-16T>G |
single nucleotide variant |
Kabuki syndrome [RCV002775132] |
Chr12:49042006 [GRCh38]
Chr12:49435789 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.46G>T (p.Ala16Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002775146] |
Chr12:49055279 [GRCh38]
Chr12:49449062 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4476G>A (p.Gln1492=) |
single nucleotide variant |
Kabuki syndrome [RCV002839385] |
Chr12:49046367 [GRCh38]
Chr12:49440150 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6121C>T (p.Arg2041Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002726555] |
Chr12:49041979 [GRCh38]
Chr12:49435762 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10979G>A (p.Gly3660Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002685471] |
Chr12:49033726 [GRCh38]
Chr12:49427509 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8020C>G (p.Gln2674Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002971311] |
Chr12:49039750 [GRCh38]
Chr12:49433533 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5655_5656delinsTT (p.Lys1885_Met1886delinsAsnLeu) |
indel |
Kabuki syndrome [RCV003016046] |
Chr12:49042867..49042868 [GRCh38]
Chr12:49436650..49436651 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7190C>T (p.Ala2397Val) |
single nucleotide variant |
Kabuki syndrome [RCV003016047] |
Chr12:49040580 [GRCh38]
Chr12:49434363 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16174C>T (p.Arg5392Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002903931] |
Chr12:49022754 [GRCh38]
Chr12:49416537 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2797+8G>A |
single nucleotide variant |
Kabuki syndrome [RCV002991561] |
Chr12:49050878 [GRCh38]
Chr12:49444661 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.761C>A (p.Ala254Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002730861] |
Chr12:49053554 [GRCh38]
Chr12:49447337 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4835G>A (p.Arg1612His) |
single nucleotide variant |
Inborn genetic diseases [RCV003061506]|Kabuki syndrome [RCV003074870] |
Chr12:49044872 [GRCh38]
Chr12:49438655 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10123C>T (p.Pro3375Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002971212]|Kabuki syndrome [RCV002971213] |
Chr12:49037233 [GRCh38]
Chr12:49431016 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5072C>T (p.Pro1691Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003033231] |
Chr12:49044414 [GRCh38]
Chr12:49438197 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.674-9C>T |
single nucleotide variant |
Kabuki syndrome [RCV002858313] |
Chr12:49053650 [GRCh38]
Chr12:49447433 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8287C>G (p.Pro2763Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002727152] |
Chr12:49039301 [GRCh38]
Chr12:49433084 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.238C>T (p.Arg80Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002881031] |
Chr12:49054690 [GRCh38]
Chr12:49448473 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9678T>A (p.Pro3226=) |
single nucleotide variant |
Kabuki syndrome [RCV002861772] |
Chr12:49037678 [GRCh38]
Chr12:49431461 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1381C>T (p.Pro461Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003014739] |
Chr12:49052302 [GRCh38]
Chr12:49446085 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.487G>A (p.Ala163Thr) |
single nucleotide variant |
not provided [RCV002511321] |
Chr12:49054330 [GRCh38]
Chr12:49448113 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14728CCT[1] (p.Pro4911del) |
microsatellite |
Kabuki syndrome [RCV003074204] |
Chr12:49027233..49027235 [GRCh38]
Chr12:49421016..49421018 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8366+12G>T |
single nucleotide variant |
Kabuki syndrome [RCV002685488] |
Chr12:49039210 [GRCh38]
Chr12:49432993 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11373C>T (p.Ser3791=) |
single nucleotide variant |
Kabuki syndrome [RCV002615670] |
Chr12:49033332 [GRCh38]
Chr12:49427115 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9557G>A (p.Gly3186Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002858435] |
Chr12:49037799 [GRCh38]
Chr12:49431582 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11359G>A (p.Val3787Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002837662]|not provided [RCV003159236] |
Chr12:49033346 [GRCh38]
Chr12:49427129 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7659G>A (p.Gln2553=) |
single nucleotide variant |
Kabuki syndrome [RCV002904776] |
Chr12:49040111 [GRCh38]
Chr12:49433894 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10355+14C>T |
single nucleotide variant |
Kabuki syndrome [RCV002880980] |
Chr12:49034798 [GRCh38]
Chr12:49428581 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6693T>G (p.Pro2231=) |
single nucleotide variant |
KMT2D-related condition [RCV003961142]|Kabuki syndrome [RCV002861394] |
Chr12:49041077 [GRCh38]
Chr12:49434860 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8041C>T (p.Arg2681Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002618149] |
Chr12:49039729 [GRCh38]
Chr12:49433512 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1888C>T (p.Pro630Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003111565]|not provided [RCV002461899] |
Chr12:49051795 [GRCh38]
Chr12:49445578 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8615C>T (p.Ala2872Val) |
single nucleotide variant |
not provided [RCV002511734] |
Chr12:49038741 [GRCh38]
Chr12:49432524 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.721del (p.Leu241fs) |
deletion |
not provided [RCV002511735] |
Chr12:49053594 [GRCh38]
Chr12:49447377 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1759G>A (p.Glu587Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002690417] |
Chr12:49051924 [GRCh38]
Chr12:49445707 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6435G>C (p.Pro2145=) |
single nucleotide variant |
Kabuki syndrome [RCV002690485] |
Chr12:49041335 [GRCh38]
Chr12:49435118 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14000-11C>A |
single nucleotide variant |
Kabuki syndrome [RCV002734881] |
Chr12:49029487 [GRCh38]
Chr12:49423270 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12530C>G (p.Pro4177Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002820108] |
Chr12:49032175 [GRCh38]
Chr12:49425958 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1899G>A (p.Ser633=) |
single nucleotide variant |
Kabuki syndrome [RCV002615368] |
Chr12:49051784 [GRCh38]
Chr12:49445567 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3951A>G (p.Gly1317=) |
single nucleotide variant |
Kabuki syndrome [RCV002774958] |
Chr12:49049174 [GRCh38]
Chr12:49442957 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3869G>A (p.Arg1290Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002774970] |
Chr12:49049719 [GRCh38]
Chr12:49443502 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6853C>T (p.Leu2285=) |
single nucleotide variant |
Kabuki syndrome [RCV002615407] |
Chr12:49040917 [GRCh38]
Chr12:49434700 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10668C>T (p.Phe3556=) |
single nucleotide variant |
Kabuki syndrome [RCV002618819] |
Chr12:49034139 [GRCh38]
Chr12:49427922 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14000-10_14000-5del |
deletion |
Kabuki syndrome [RCV002616915] |
Chr12:49029481..49029486 [GRCh38]
Chr12:49423264..49423269 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9081C>T (p.Thr3027=) |
single nucleotide variant |
Kabuki syndrome [RCV002618824] |
Chr12:49038275 [GRCh38]
Chr12:49432058 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11404C>T (p.Leu3802=) |
single nucleotide variant |
Kabuki syndrome [RCV002780056] |
Chr12:49033301 [GRCh38]
Chr12:49427084 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14099_14105delinsGTTCTCT (p.Asp4700_Pro4702delinsGlySerLeu) |
indel |
Kabuki syndrome 1 [RCV002510550] |
Chr12:49029207..49029213 [GRCh38]
Chr12:49422990..49422996 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2499G>T (p.Leu833=) |
single nucleotide variant |
Kabuki syndrome [RCV002618411] |
Chr12:49051184 [GRCh38]
Chr12:49444967 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14556T>A (p.Thr4852=) |
single nucleotide variant |
Kabuki syndrome [RCV002819115] |
Chr12:49027890 [GRCh38]
Chr12:49421673 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16212C>T (p.Ser5404=) |
single nucleotide variant |
KMT2D-related condition [RCV003898583]|Kabuki syndrome [RCV002909023] |
Chr12:49022716 [GRCh38]
Chr12:49416499 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7776C>T (p.Ser2592=) |
single nucleotide variant |
Kabuki syndrome [RCV002750068] |
Chr12:49039994 [GRCh38]
Chr12:49433777 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15922-10G>C |
single nucleotide variant |
Kabuki syndrome [RCV002776505] |
Chr12:49024718 [GRCh38]
Chr12:49418501 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13531-4T>G |
single nucleotide variant |
Kabuki syndrome [RCV003017257] |
Chr12:49031037 [GRCh38]
Chr12:49424820 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11876A>C (p.Gln3959Pro) |
single nucleotide variant |
not provided [RCV002462787] |
Chr12:49032829 [GRCh38]
Chr12:49426612 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7757A>G (p.Asn2586Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003017670] |
Chr12:49040013 [GRCh38]
Chr12:49433796 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15586A>G (p.Met5196Val) |
single nucleotide variant |
Kabuki syndrome [RCV003017754] |
Chr12:49026380 [GRCh38]
Chr12:49420163 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14239G>A (p.Ala4747Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002843407] |
Chr12:49029073 [GRCh38]
Chr12:49422856 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15510G>C (p.Gln5170His) |
single nucleotide variant |
Kabuki syndrome [RCV002819350] |
Chr12:49026456 [GRCh38]
Chr12:49420239 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14412G>A (p.Ala4804=) |
single nucleotide variant |
KMT2D-related condition [RCV003973516]|Kabuki syndrome [RCV002908139] |
Chr12:49028112 [GRCh38]
Chr12:49421895 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14781T>C (p.Ser4927=) |
single nucleotide variant |
Kabuki syndrome [RCV003017567] |
Chr12:49027185 [GRCh38]
Chr12:49420968 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4757G>A (p.Arg1586His) |
single nucleotide variant |
Kabuki syndrome [RCV002618010] |
Chr12:49044950 [GRCh38]
Chr12:49438733 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7645C>T (p.Pro2549Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002843328] |
Chr12:49040125 [GRCh38]
Chr12:49433908 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1258+16G>A |
single nucleotide variant |
Kabuki syndrome [RCV003077031] |
Chr12:49052548 [GRCh38]
Chr12:49446331 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14846C>T (p.Pro4949Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002837864] |
Chr12:49027120 [GRCh38]
Chr12:49420903 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13390C>G (p.Gln4464Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002858638] |
Chr12:49031315 [GRCh38]
Chr12:49425098 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15622G>T (p.Val5208Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002685608] |
Chr12:49026344 [GRCh38]
Chr12:49420127 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11735_11770del (p.Leu3912_Gln3923del) |
deletion |
Kabuki syndrome [RCV002907685] |
Chr12:49032935..49032970 [GRCh38]
Chr12:49426718..49426753 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8877T>C (p.Thr2959=) |
single nucleotide variant |
Kabuki syndrome [RCV002756139] |
Chr12:49038479 [GRCh38]
Chr12:49432262 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14933G>A (p.Arg4978His) |
single nucleotide variant |
Kabuki syndrome [RCV002909139] |
Chr12:49027033 [GRCh38]
Chr12:49420816 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4844G>A (p.Arg1615Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003035271] |
Chr12:49044863 [GRCh38]
Chr12:49438646 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11777_11881del (p.Leu3926_Gln3960del) |
deletion |
Kabuki syndrome [RCV003013536] |
Chr12:49032824..49032928 [GRCh38]
Chr12:49426607..49426711 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9861T>C (p.Ser3287=) |
single nucleotide variant |
Kabuki syndrome [RCV002730303] |
Chr12:49037495 [GRCh38]
Chr12:49431278 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8047-7del |
deletion |
Kabuki syndrome [RCV003015400] |
Chr12:49039624 [GRCh38]
Chr12:49433407 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.318T>A (p.Asn106Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002777720] |
Chr12:49054610 [GRCh38]
Chr12:49448393 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.612C>T (p.Phe204=) |
single nucleotide variant |
Kabuki syndrome [RCV002819419] |
Chr12:49054039 [GRCh38]
Chr12:49447822 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3943C>T (p.Arg1315Cys) |
single nucleotide variant |
not provided [RCV002511319] |
Chr12:49049182 [GRCh38]
Chr12:49442965 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5189-4A>T |
single nucleotide variant |
KMT2D-related condition [RCV003898684]|Kabuki syndrome [RCV002996128] |
Chr12:49044002 [GRCh38]
Chr12:49437785 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11504T>C (p.Leu3835Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002996603] |
Chr12:49033201 [GRCh38]
Chr12:49426984 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2551C>G (p.Leu851Val) |
single nucleotide variant |
Kabuki syndrome [RCV002908631] |
Chr12:49051132 [GRCh38]
Chr12:49444915 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15636C>T (p.Ala5212=) |
single nucleotide variant |
Kabuki syndrome [RCV002908962] |
Chr12:49026330 [GRCh38]
Chr12:49420113 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7299A>C (p.Glu2433Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002690378] |
Chr12:49040471 [GRCh38]
Chr12:49434254 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.840-9C>T |
single nucleotide variant |
Kabuki syndrome [RCV003034902] |
Chr12:49053330 [GRCh38]
Chr12:49447113 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2394C>T (p.Ser798=) |
single nucleotide variant |
Kabuki syndrome [RCV002615999] |
Chr12:49051289 [GRCh38]
Chr12:49445072 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7516C>T (p.Leu2506Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003073928] |
Chr12:49040254 [GRCh38]
Chr12:49434037 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1367_1420dup (p.Glu473_Leu474insSerProThrSerProProProGluAlaSerArgLeuSerProProProGluGlu) |
duplication |
Kabuki syndrome [RCV002908448] |
Chr12:49052262..49052263 [GRCh38]
Chr12:49446045..49446046 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2259_2285del (p.746RPEEPHLSP[1]) |
deletion |
Kabuki syndrome [RCV002904939] |
Chr12:49051398..49051424 [GRCh38]
Chr12:49445181..49445207 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7515G>A (p.Glu2505=) |
single nucleotide variant |
KMT2D-related condition [RCV003898686]|Kabuki syndrome [RCV002996536] |
Chr12:49040255 [GRCh38]
Chr12:49434038 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9673G>A (p.Gly3225Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002819717] |
Chr12:49037683 [GRCh38]
Chr12:49431466 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6482T>A (p.Leu2161His) |
single nucleotide variant |
Inborn genetic diseases [RCV002837073] |
Chr12:49041288 [GRCh38]
Chr12:49435071 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2264_2317del (p.Arg755_Pro772del) |
deletion |
Inborn genetic diseases [RCV002684417]|Kabuki syndrome [RCV003753259] |
Chr12:49051366..49051419 [GRCh38]
Chr12:49445149..49445202 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15976C>G (p.Leu5326Val) |
single nucleotide variant |
Kabuki syndrome [RCV002756570] |
Chr12:49024654 [GRCh38]
Chr12:49418437 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6572C>A (p.Thr2191Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002682582]|Kabuki syndrome [RCV003777608] |
Chr12:49041198 [GRCh38]
Chr12:49434981 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10825C>T (p.Gln3609Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002861299] |
Chr12:49033880 [GRCh38]
Chr12:49427663 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14098G>A (p.Asp4700Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002903637] |
Chr12:49029214 [GRCh38]
Chr12:49422997 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2539G>A (p.Glu847Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002971800] |
Chr12:49051144 [GRCh38]
Chr12:49444927 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2682G>A (p.Leu894=) |
single nucleotide variant |
Kabuki syndrome [RCV002776593] |
Chr12:49051001 [GRCh38]
Chr12:49444784 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1488G>T (p.Pro496=) |
single nucleotide variant |
Kabuki syndrome [RCV002842313] |
Chr12:49052195 [GRCh38]
Chr12:49445978 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13249C>G (p.Gln4417Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002818611] |
Chr12:49031456 [GRCh38]
Chr12:49425239 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2383_2409dup (p.Glu803_Leu804insProHisLeuSerProGlnProGluGlu) |
duplication |
Kabuki syndrome [RCV002967640] |
Chr12:49051273..49051274 [GRCh38]
Chr12:49445056..49445057 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12449A>G (p.Gln4150Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003014351] |
Chr12:49032256 [GRCh38]
Chr12:49426039 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1409C>A (p.Pro470Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003032785] |
Chr12:49052274 [GRCh38]
Chr12:49446057 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10813C>T (p.Gln3605Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002617140] |
Chr12:49033892 [GRCh38]
Chr12:49427675 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14865C>G (p.Ser4955=) |
single nucleotide variant |
KMT2D-related condition [RCV003898753]|Kabuki syndrome [RCV003074824] |
Chr12:49027101 [GRCh38]
Chr12:49420884 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8074C>A (p.Arg2692=) |
single nucleotide variant |
Kabuki syndrome [RCV003074826] |
Chr12:49039590 [GRCh38]
Chr12:49433373 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.195T>C (p.Arg65=) |
single nucleotide variant |
Kabuki syndrome [RCV002881162] |
Chr12:49054733 [GRCh38]
Chr12:49448516 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.692T>C (p.Val231Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003898426]|Kabuki syndrome [RCV002617119] |
Chr12:49053623 [GRCh38]
Chr12:49447406 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7968G>A (p.Leu2656=) |
single nucleotide variant |
Kabuki syndrome [RCV002613878] |
Chr12:49039802 [GRCh38]
Chr12:49433585 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2039C>T (p.Thr680Met) |
single nucleotide variant |
Kabuki syndrome [RCV002996197] |
Chr12:49051644 [GRCh38]
Chr12:49445427 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11799_11825del (p.3930QLQQQQQQQ[1]) |
deletion |
Kabuki syndrome [RCV002995575] |
Chr12:49032880..49032906 [GRCh38]
Chr12:49426663..49426689 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.68C>T (p.Ser23Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002816296] |
Chr12:49055008 [GRCh38]
Chr12:49448791 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5468-15G>C |
single nucleotide variant |
Kabuki syndrome [RCV002862750] |
Chr12:49043443 [GRCh38]
Chr12:49437226 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15231G>A (p.Leu5077=) |
single nucleotide variant |
Kabuki syndrome [RCV002686416] |
Chr12:49026735 [GRCh38]
Chr12:49420518 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12912T>C (p.Pro4304=) |
single nucleotide variant |
Kabuki syndrome [RCV003074872] |
Chr12:49031793 [GRCh38]
Chr12:49425576 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6457C>T (p.Pro2153Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003074876]|not specified [RCV003404057] |
Chr12:49041313 [GRCh38]
Chr12:49435096 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12863_12869del (p.Arg4288fs) |
deletion |
Kabuki syndrome [RCV003012088] |
Chr12:49031836..49031842 [GRCh38]
Chr12:49425619..49425625 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8373G>C (p.Leu2791=) |
single nucleotide variant |
Kabuki syndrome [RCV002858341] |
Chr12:49038983 [GRCh38]
Chr12:49432766 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.857C>T (p.Ser286Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002730621] |
Chr12:49053304 [GRCh38]
Chr12:49447087 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1667C>A (p.Pro556Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002751081] |
Chr12:49052016 [GRCh38]
Chr12:49445799 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7877C>T (p.Pro2626Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002839150] |
Chr12:49039893 [GRCh38]
Chr12:49433676 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13916T>C (p.Val4639Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002815444] |
Chr12:49030363 [GRCh38]
Chr12:49424146 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5867+14C>T |
single nucleotide variant |
Kabuki syndrome [RCV002972299] |
Chr12:49042547 [GRCh38]
Chr12:49436330 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1903A>G (p.Met635Val) |
single nucleotide variant |
Kabuki syndrome [RCV003074171] |
Chr12:49051780 [GRCh38]
Chr12:49445563 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10929A>G (p.Pro3643=) |
single nucleotide variant |
Kabuki syndrome [RCV002730779] |
Chr12:49033776 [GRCh38]
Chr12:49427559 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13200C>A (p.Asp4400Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003012287] |
Chr12:49031505 [GRCh38]
Chr12:49425288 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7215C>T (p.Ser2405=) |
single nucleotide variant |
Kabuki syndrome [RCV002971125] |
Chr12:49040555 [GRCh38]
Chr12:49434338 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14944del (p.Trp4982fs) |
deletion |
Kabuki syndrome [RCV002862065] |
Chr12:49027022 [GRCh38]
Chr12:49420805 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7425del (p.Glu2476fs) |
deletion |
Kabuki syndrome [RCV002863668] |
Chr12:49040345 [GRCh38]
Chr12:49434128 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7834C>T (p.Pro2612Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002972380] |
Chr12:49039936 [GRCh38]
Chr12:49433719 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9520T>C (p.Ser3174Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002616737] |
Chr12:49037836 [GRCh38]
Chr12:49431619 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14971_14972insT (p.Arg4991fs) |
insertion |
Kabuki syndrome [RCV002863463] |
Chr12:49026994..49026995 [GRCh38]
Chr12:49420777..49420778 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14446G>A (p.Glu4816Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002755243] |
Chr12:49028078 [GRCh38]
Chr12:49421861 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13530+20T>C |
single nucleotide variant |
Kabuki syndrome [RCV003075811] |
Chr12:49031155 [GRCh38]
Chr12:49424938 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13183G>T (p.Val4395Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003032589] |
Chr12:49031522 [GRCh38]
Chr12:49425305 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14197G>A (p.Glu4733Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003095483] |
Chr12:49029115 [GRCh38]
Chr12:49422898 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3097G>A (p.Val1033Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002995785] |
Chr12:49050491 [GRCh38]
Chr12:49444274 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15257G>A (p.Arg5086Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002837903] |
Chr12:49026709 [GRCh38]
Chr12:49420492 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4180C>G (p.Leu1394Val) |
single nucleotide variant |
Kabuki syndrome [RCV003013365] |
Chr12:49048021 [GRCh38]
Chr12:49441804 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10278G>A (p.Lys3426=) |
single nucleotide variant |
KMT2D-related condition [RCV003898737]|Kabuki syndrome [RCV003074335] |
Chr12:49034889 [GRCh38]
Chr12:49428672 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.4062A>G (p.Glu1354=) |
single nucleotide variant |
Kabuki syndrome [RCV002775599] |
Chr12:49048728 [GRCh38]
Chr12:49442511 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5083+18G>T |
single nucleotide variant |
Kabuki syndrome [RCV003033108] |
Chr12:49044385 [GRCh38]
Chr12:49438168 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14785C>T (p.Pro4929Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003011645] |
Chr12:49027181 [GRCh38]
Chr12:49420964 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13441G>T (p.Glu4481Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002815774] |
Chr12:49031264 [GRCh38]
Chr12:49425047 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3887C>T (p.Ala1296Val) |
single nucleotide variant |
Kabuki syndrome [RCV002730263] |
Chr12:49049701 [GRCh38]
Chr12:49443484 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7827A>G (p.Pro2609=) |
single nucleotide variant |
Kabuki syndrome [RCV002881249] |
Chr12:49039943 [GRCh38]
Chr12:49433726 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6051C>T (p.Thr2017=) |
single nucleotide variant |
Kabuki syndrome [RCV002880931] |
Chr12:49042147 [GRCh38]
Chr12:49435930 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10847T>C (p.Val3616Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002755329]|not specified [RCV003321956] |
Chr12:49033858 [GRCh38]
Chr12:49427641 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8814G>A (p.Pro2938=) |
single nucleotide variant |
Kabuki syndrome [RCV003074764] |
Chr12:49038542 [GRCh38]
Chr12:49432325 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5139G>A (p.Gly1713=) |
single nucleotide variant |
Kabuki syndrome [RCV002908019] |
Chr12:49044249 [GRCh38]
Chr12:49438032 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1258+15_1258+16insAA |
insertion |
Kabuki syndrome [RCV002755507] |
Chr12:49052548..49052549 [GRCh38]
Chr12:49446331..49446332 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5026C>G (p.Pro1676Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002908034] |
Chr12:49044460 [GRCh38]
Chr12:49438243 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10621G>C (p.Ala3541Pro) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003152331] |
Chr12:49034186 [GRCh38]
Chr12:49427969 [GRCh37]
Chr12:12q13.12 |
pathogenic|likely pathogenic |
| NM_003482.4(KMT2D):c.13421T>G (p.Leu4474Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002979795]|Kabuki syndrome [RCV002995567] |
Chr12:49031284 [GRCh38]
Chr12:49425067 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3347C>T (p.Ser1116Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003034577] |
Chr12:49050241 [GRCh38]
Chr12:49444024 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3409C>A (p.Pro1137Thr) |
single nucleotide variant |
not provided [RCV002461636] |
Chr12:49050179 [GRCh38]
Chr12:49443962 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2043C>G (p.Ser681=) |
single nucleotide variant |
Kabuki syndrome [RCV002908428] |
Chr12:49051640 [GRCh38]
Chr12:49445423 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14695T>A (p.Ser4899Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002861072] |
Chr12:49027271 [GRCh38]
Chr12:49421054 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14280C>T (p.Ala4760=) |
single nucleotide variant |
Kabuki syndrome [RCV002881977] |
Chr12:49028930 [GRCh38]
Chr12:49422713 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8346C>G (p.Ser2782=) |
single nucleotide variant |
Kabuki syndrome [RCV002994296] |
Chr12:49039242 [GRCh38]
Chr12:49433025 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.172T>C (p.Cys58Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002843418] |
Chr12:49054904 [GRCh38]
Chr12:49448687 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3521A>G (p.Gln1174Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002755028] |
Chr12:49050067 [GRCh38]
Chr12:49443850 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7726C>G (p.Gln2576Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002752585] |
Chr12:49040044 [GRCh38]
Chr12:49433827 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13050C>T (p.Thr4350=) |
single nucleotide variant |
Kabuki syndrome [RCV003016806] |
Chr12:49031655 [GRCh38]
Chr12:49425438 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15617A>C (p.Tyr5206Ser) |
single nucleotide variant |
not provided [RCV002462621] |
Chr12:49026349 [GRCh38]
Chr12:49420132 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10590G>A (p.Glu3530=) |
single nucleotide variant |
Kabuki syndrome [RCV003034030] |
Chr12:49034217 [GRCh38]
Chr12:49428000 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3365C>A (p.Thr1122Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002686841]|Kabuki syndrome [RCV003777596] |
Chr12:49050223 [GRCh38]
Chr12:49444006 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2799T>A (p.Asp933Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002881920] |
Chr12:49050789 [GRCh38]
Chr12:49444572 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14382+10del |
deletion |
Kabuki syndrome [RCV002726605] |
Chr12:49028818 [GRCh38]
Chr12:49422601 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14006C>G (p.Ser4669Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV002510548] |
Chr12:49029470 [GRCh38]
Chr12:49423253 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1898C>T (p.Ser633Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002775731] |
Chr12:49051785 [GRCh38]
Chr12:49445568 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15838A>C (p.Met5280Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002753078] |
Chr12:49024893 [GRCh38]
Chr12:49418676 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10706A>G (p.Glu3569Gly) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003151945] |
Chr12:49034101 [GRCh38]
Chr12:49427884 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6893G>T (p.Ser2298Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002881845] |
Chr12:49040877 [GRCh38]
Chr12:49434660 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5036A>G (p.Glu1679Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003034683] |
Chr12:49044450 [GRCh38]
Chr12:49438233 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15948C>T (p.Asn5316=) |
single nucleotide variant |
Kabuki syndrome [RCV002880665] |
Chr12:49024682 [GRCh38]
Chr12:49418465 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2606A>G (p.Glu869Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002777553] |
Chr12:49051077 [GRCh38]
Chr12:49444860 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14452C>T (p.Leu4818=) |
single nucleotide variant |
Kabuki syndrome [RCV002910131] |
Chr12:49028072 [GRCh38]
Chr12:49421855 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5717A>G (p.His1906Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003002873] |
Chr12:49042806 [GRCh38]
Chr12:49436589 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7904G>C (p.Arg2635Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002927839] |
Chr12:49039866 [GRCh38]
Chr12:49433649 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5534-13C>T |
single nucleotide variant |
Kabuki syndrome [RCV002640516] |
Chr12:49043199 [GRCh38]
Chr12:49436982 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1671A>G (p.Pro557=) |
single nucleotide variant |
Kabuki syndrome [RCV002662438] |
Chr12:49052012 [GRCh38]
Chr12:49445795 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.703C>A (p.Pro235Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002622533] |
Chr12:49053612 [GRCh38]
Chr12:49447395 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13654C>T (p.Leu4552=) |
single nucleotide variant |
Kabuki syndrome [RCV002571770] |
Chr12:49030910 [GRCh38]
Chr12:49424693 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13668A>T (p.Lys4556Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002953554] |
Chr12:49030896 [GRCh38]
Chr12:49424679 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5310T>C (p.Ala1770=) |
single nucleotide variant |
Kabuki syndrome [RCV002795481] |
Chr12:49043877 [GRCh38]
Chr12:49437660 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2227C>G (p.Leu743Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003167559]|Kabuki syndrome [RCV002662387] |
Chr12:49051456 [GRCh38]
Chr12:49445239 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3337G>A (p.Asp1113Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002825479] |
Chr12:49050251 [GRCh38]
Chr12:49444034 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4881G>A (p.Glu1627=) |
single nucleotide variant |
Kabuki syndrome [RCV003080442] |
Chr12:49044826 [GRCh38]
Chr12:49438609 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4068T>A (p.Asp1356Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002800321] |
Chr12:49048722 [GRCh38]
Chr12:49442505 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1385C>G (p.Pro462Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003100203] |
Chr12:49052298 [GRCh38]
Chr12:49446081 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11543T>C (p.Met3848Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002886141] |
Chr12:49033162 [GRCh38]
Chr12:49426945 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1982G>A (p.Arg661His) |
single nucleotide variant |
Kabuki syndrome [RCV002926865] |
Chr12:49051701 [GRCh38]
Chr12:49445484 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4677C>T (p.Tyr1559=) |
single nucleotide variant |
Kabuki syndrome [RCV002927878] |
Chr12:49046081 [GRCh38]
Chr12:49439864 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3053A>C (p.Glu1018Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002800341] |
Chr12:49050535 [GRCh38]
Chr12:49444318 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16338+15A>G |
single nucleotide variant |
Kabuki syndrome [RCV003039606] |
Chr12:49022575 [GRCh38]
Chr12:49416358 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5178G>A (p.Gln1726=) |
single nucleotide variant |
Kabuki syndrome [RCV002871565] |
Chr12:49044210 [GRCh38]
Chr12:49437993 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5447A>G (p.Glu1816Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003039000] |
Chr12:49043655 [GRCh38]
Chr12:49437438 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2800C>T (p.Pro934Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002976294] |
Chr12:49050788 [GRCh38]
Chr12:49444571 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14516-5T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002707764] |
Chr12:49027935 [GRCh38]
Chr12:49421718 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.513C>T (p.Arg171=) |
single nucleotide variant |
Kabuki syndrome [RCV002622903] |
Chr12:49054138 [GRCh38]
Chr12:49447921 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3519G>A (p.Lys1173=) |
single nucleotide variant |
KMT2D-related condition [RCV003953848]|Kabuki syndrome [RCV003081246] |
Chr12:49050069 [GRCh38]
Chr12:49443852 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.12719C>T (p.Thr4240Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003078456] |
Chr12:49031986 [GRCh38]
Chr12:49425769 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.277C>T (p.Arg93Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002591218] |
Chr12:49054651 [GRCh38]
Chr12:49448434 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10608C>A (p.Arg3536=) |
single nucleotide variant |
Kabuki syndrome [RCV003054651] |
Chr12:49034199 [GRCh38]
Chr12:49427982 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2223G>C (p.Pro741=) |
single nucleotide variant |
Kabuki syndrome [RCV002927900] |
Chr12:49051460 [GRCh38]
Chr12:49445243 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2356C>G (p.Pro786Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002785927] |
Chr12:49051327 [GRCh38]
Chr12:49445110 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1109G>T (p.Ser370Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002740062] |
Chr12:49052918 [GRCh38]
Chr12:49446701 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1884A>G (p.Pro628=) |
single nucleotide variant |
Kabuki syndrome [RCV002760284] |
Chr12:49051799 [GRCh38]
Chr12:49445582 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15042G>C (p.Glu5014Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003020013] |
Chr12:49026924 [GRCh38]
Chr12:49420707 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7668C>G (p.Leu2556=) |
single nucleotide variant |
Kabuki syndrome [RCV003081535] |
Chr12:49040102 [GRCh38]
Chr12:49433885 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.603C>T (p.Ser201=) |
single nucleotide variant |
Kabuki syndrome [RCV002927912] |
Chr12:49054048 [GRCh38]
Chr12:49447831 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.400+7G>C |
single nucleotide variant |
Kabuki syndrome [RCV002825439] |
Chr12:49054521 [GRCh38]
Chr12:49448304 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2679C>T (p.Pro893=) |
single nucleotide variant |
Kabuki syndrome [RCV003003274] |
Chr12:49051004 [GRCh38]
Chr12:49444787 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7793G>A (p.Ser2598Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002740072] |
Chr12:49039977 [GRCh38]
Chr12:49433760 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9822GCA[2] (p.Gln3281_Gln3282del) |
microsatellite |
Kabuki syndrome [RCV002622823] |
Chr12:49037523..49037528 [GRCh38]
Chr12:49431306..49431311 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12577A>G (p.Thr4193Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003100456] |
Chr12:49032128 [GRCh38]
Chr12:49425911 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7201C>G (p.Arg2401Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003002796] |
Chr12:49040569 [GRCh38]
Chr12:49434352 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15925C>A (p.Pro5309Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002825521] |
Chr12:49024705 [GRCh38]
Chr12:49418488 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11188C>T (p.Leu3730=) |
single nucleotide variant |
Kabuki syndrome [RCV003002365] |
Chr12:49033517 [GRCh38]
Chr12:49427300 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7716G>C (p.Leu2572Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002640159] |
Chr12:49040054 [GRCh38]
Chr12:49433837 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4697C>T (p.Pro1566Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002696191] |
Chr12:49045964 [GRCh38]
Chr12:49439747 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.49+16T>C |
single nucleotide variant |
Kabuki syndrome [RCV002572016] |
Chr12:49055260 [GRCh38]
Chr12:49449043 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11938C>T (p.Gln3980Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002869855] |
Chr12:49032767 [GRCh38]
Chr12:49426550 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2962G>A (p.Ala988Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002659585] |
Chr12:49050626 [GRCh38]
Chr12:49444409 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1802C>T (p.Pro601Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002695898] |
Chr12:49051881 [GRCh38]
Chr12:49445664 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15785-20C>T |
single nucleotide variant |
Kabuki syndrome [RCV002785787] |
Chr12:49024966 [GRCh38]
Chr12:49418749 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9285C>G (p.Gly3095=) |
single nucleotide variant |
Kabuki syndrome [RCV002871299] |
Chr12:49038071 [GRCh38]
Chr12:49431854 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14925dup (p.Pro4976fs) |
duplication |
Kabuki syndrome [RCV002889476] |
Chr12:49027040..49027041 [GRCh38]
Chr12:49420823..49420824 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14266A>C (p.Lys4756Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002999632] |
Chr12:49028944 [GRCh38]
Chr12:49422727 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15359G>A (p.Arg5120His) |
single nucleotide variant |
Kabuki syndrome [RCV002953516] |
Chr12:49026607 [GRCh38]
Chr12:49420390 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13492C>T (p.Leu4498=) |
single nucleotide variant |
Kabuki syndrome [RCV003039262] |
Chr12:49031213 [GRCh38]
Chr12:49424996 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11137T>G (p.Ser3713Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003409917]|Kabuki syndrome [RCV002735786] |
Chr12:49033568 [GRCh38]
Chr12:49427351 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7195C>T (p.Pro2399Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002825213] |
Chr12:49040575 [GRCh38]
Chr12:49434358 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12745C>T (p.Gln4249Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002662918] |
Chr12:49031960 [GRCh38]
Chr12:49425743 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11040G>A (p.Gln3680=) |
single nucleotide variant |
Kabuki syndrome [RCV003002937] |
Chr12:49033665 [GRCh38]
Chr12:49427448 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13530+11dup |
duplication |
Kabuki syndrome [RCV002976629] |
Chr12:49031163..49031164 [GRCh38]
Chr12:49424946..49424947 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2662G>A (p.Glu888Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003019740] |
Chr12:49051021 [GRCh38]
Chr12:49444804 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14953G>C (p.Val4985Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002695927] |
Chr12:49027013 [GRCh38]
Chr12:49420796 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5084-10C>T |
single nucleotide variant |
Kabuki syndrome [RCV002785890] |
Chr12:49044314 [GRCh38]
Chr12:49438097 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14256C>T (p.Phe4752=) |
single nucleotide variant |
Kabuki syndrome [RCV002979279] |
Chr12:49028954 [GRCh38]
Chr12:49422737 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10508-15A>G |
single nucleotide variant |
Kabuki syndrome [RCV002820284] |
Chr12:49034314 [GRCh38]
Chr12:49428097 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15900C>G (p.Ala5300=) |
single nucleotide variant |
KMT2D-related condition [RCV003943791]|Kabuki syndrome [RCV003100603] |
Chr12:49024831 [GRCh38]
Chr12:49418614 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13100A>G (p.Asp4367Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002659564] |
Chr12:49031605 [GRCh38]
Chr12:49425388 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1626A>G (p.Ala542=) |
single nucleotide variant |
KMT2D-related condition [RCV003892202]|Kabuki syndrome [RCV002760501] |
Chr12:49052057 [GRCh38]
Chr12:49445840 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11132C>A (p.Pro3711His) |
single nucleotide variant |
Kabuki syndrome [RCV002638773] |
Chr12:49033573 [GRCh38]
Chr12:49427356 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6882A>C (p.Ala2294=) |
single nucleotide variant |
Kabuki syndrome [RCV002976020] |
Chr12:49040888 [GRCh38]
Chr12:49434671 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11844_11852del (p.Gln3952_Gln3954del) |
deletion |
Kabuki syndrome [RCV003077676] |
Chr12:49032853..49032861 [GRCh38]
Chr12:49426636..49426644 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6282C>T (p.Ala2094=) |
single nucleotide variant |
Kabuki syndrome [RCV002781080] |
Chr12:49041488 [GRCh38]
Chr12:49435271 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.67T>G (p.Ser23Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003906521]|Kabuki syndrome [RCV002591863] |
Chr12:49055009 [GRCh38]
Chr12:49448792 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.52G>T (p.Asp18Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002923149] |
Chr12:49055024 [GRCh38]
Chr12:49448807 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4237-6C>T |
single nucleotide variant |
Kabuki syndrome [RCV002620142] |
Chr12:49046796 [GRCh38]
Chr12:49440579 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8775G>A (p.Ala2925=) |
single nucleotide variant |
KMT2D-related condition [RCV003936510]|Kabuki syndrome [RCV003037150]|not provided [RCV003395569] |
Chr12:49038581 [GRCh38]
Chr12:49432364 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.1884ACC[1] (p.Pro630del) |
microsatellite |
Kabuki syndrome [RCV002886565] |
Chr12:49051794..49051796 [GRCh38]
Chr12:49445577..49445579 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2656C>T (p.Pro886Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002639208] |
Chr12:49051027 [GRCh38]
Chr12:49444810 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7198C>T (p.Pro2400Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002570215] |
Chr12:49040572 [GRCh38]
Chr12:49434355 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.794G>A (p.Arg265His) |
single nucleotide variant |
Inborn genetic diseases [RCV002691872]|Kabuki syndrome [RCV003588849] |
Chr12:49053521 [GRCh38]
Chr12:49447304 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8735A>T (p.Asp2912Val) |
single nucleotide variant |
Kabuki syndrome [RCV002591611] |
Chr12:49038621 [GRCh38]
Chr12:49432404 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.706G>A (p.Gly236Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002909726] |
Chr12:49053609 [GRCh38]
Chr12:49447392 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14178C>T (p.Gly4726=) |
single nucleotide variant |
Kabuki syndrome [RCV002736575] |
Chr12:49029134 [GRCh38]
Chr12:49422917 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.510+16G>A |
single nucleotide variant |
Kabuki syndrome [RCV003053485] |
Chr12:49054291 [GRCh38]
Chr12:49448074 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10371G>A (p.Leu3457=) |
single nucleotide variant |
Kabuki syndrome [RCV002847287] |
Chr12:49034651 [GRCh38]
Chr12:49428434 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7600A>G (p.Met2534Val) |
single nucleotide variant |
Kabuki syndrome [RCV002796614] |
Chr12:49040170 [GRCh38]
Chr12:49433953 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7992C>A (p.Thr2664=) |
single nucleotide variant |
KMT2D-related condition [RCV003898698]|Kabuki syndrome [RCV003019811] |
Chr12:49039778 [GRCh38]
Chr12:49433561 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13978G>C (p.Asp4660His) |
single nucleotide variant |
Kabuki syndrome [RCV002736023] |
Chr12:49030301 [GRCh38]
Chr12:49424084 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6235-9C>T |
single nucleotide variant |
Kabuki syndrome [RCV002781445] |
Chr12:49041544 [GRCh38]
Chr12:49435327 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8548C>G (p.Leu2850Val) |
single nucleotide variant |
Kabuki syndrome [RCV003036521] |
Chr12:49038808 [GRCh38]
Chr12:49432591 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5460G>A (p.Ser1820=) |
single nucleotide variant |
Kabuki syndrome [RCV003100273] |
Chr12:49043642 [GRCh38]
Chr12:49437425 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.937C>T (p.His313Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003054243] |
Chr12:49053224 [GRCh38]
Chr12:49447007 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14726del (p.Pro4909fs) |
deletion |
Kabuki syndrome [RCV003019666] |
Chr12:49027240 [GRCh38]
Chr12:49421023 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8262C>T (p.Ser2754=) |
single nucleotide variant |
Kabuki syndrome [RCV002912978] |
Chr12:49039326 [GRCh38]
Chr12:49433109 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11455_11467del (p.Gly3819fs) |
deletion |
Kabuki syndrome [RCV002885104] |
Chr12:49033238..49033250 [GRCh38]
Chr12:49427021..49427033 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8287C>A (p.Pro2763Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002998921] |
Chr12:49039301 [GRCh38]
Chr12:49433084 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3312C>A (p.Pro1104=) |
single nucleotide variant |
Kabuki syndrome [RCV002823915] |
Chr12:49050276 [GRCh38]
Chr12:49444059 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2550T>C (p.His850=) |
single nucleotide variant |
Kabuki syndrome [RCV002886641] |
Chr12:49051133 [GRCh38]
Chr12:49444916 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.955-10C>T |
single nucleotide variant |
Kabuki syndrome [RCV002735624] |
Chr12:49053082 [GRCh38]
Chr12:49446865 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5154G>A (p.Ala1718=) |
single nucleotide variant |
Kabuki syndrome [RCV003077916] |
Chr12:49044234 [GRCh38]
Chr12:49438017 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14546G>A (p.Ser4849Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003077940]|Kabuki syndrome [RCV003077941] |
Chr12:49027900 [GRCh38]
Chr12:49421683 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4111G>A (p.Asp1371Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002884187] |
Chr12:49048679 [GRCh38]
Chr12:49442462 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6578C>T (p.Pro2193Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002886320] |
Chr12:49041192 [GRCh38]
Chr12:49434975 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2926C>G (p.Pro976Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002760604] |
Chr12:49050662 [GRCh38]
Chr12:49444445 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2223G>A (p.Pro741=) |
single nucleotide variant |
KMT2D-related condition [RCV003906471]|Kabuki syndrome [RCV003077206]|not provided [RCV003389915] |
Chr12:49051460 [GRCh38]
Chr12:49445243 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3434C>T (p.Ala1145Val) |
single nucleotide variant |
Kabuki syndrome [RCV003077998] |
Chr12:49050154 [GRCh38]
Chr12:49443937 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6274G>A (p.Asp2092Asn) |
single nucleotide variant |
KMT2D-related condition [RCV003973507]|Kabuki syndrome [RCV002885712] |
Chr12:49041496 [GRCh38]
Chr12:49435279 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3856G>C (p.Gly1286Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003973508]|Kabuki syndrome [RCV002885713] |
Chr12:49049732 [GRCh38]
Chr12:49443515 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3505T>A (p.Tyr1169Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002998988] |
Chr12:49050083 [GRCh38]
Chr12:49443866 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6794G>T (p.Gly2265Val) |
single nucleotide variant |
Kabuki syndrome [RCV003053713] |
Chr12:49040976 [GRCh38]
Chr12:49434759 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9950T>G (p.Leu3317Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003170678]|Kabuki syndrome [RCV002923872]|not provided [RCV003130785] |
Chr12:49037406 [GRCh38]
Chr12:49431189 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1617A>G (p.Pro539=) |
single nucleotide variant |
Kabuki syndrome [RCV002923037] |
Chr12:49052066 [GRCh38]
Chr12:49445849 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5619T>C (p.Ser1873=) |
single nucleotide variant |
Kabuki syndrome [RCV002637377] |
Chr12:49043101 [GRCh38]
Chr12:49436884 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.988T>C (p.Ser330Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002737115] |
Chr12:49053039 [GRCh38]
Chr12:49446822 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8138C>A (p.Ala2713Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002909246] |
Chr12:49039526 [GRCh38]
Chr12:49433309 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3393G>A (p.Pro1131=) |
single nucleotide variant |
Kabuki syndrome [RCV002636707] |
Chr12:49050195 [GRCh38]
Chr12:49443978 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1401G>C (p.Leu467=) |
single nucleotide variant |
Kabuki syndrome [RCV002820959] |
Chr12:49052282 [GRCh38]
Chr12:49446065 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13817A>C (p.Tyr4606Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003018880] |
Chr12:49030623 [GRCh38]
Chr12:49424406 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3011C>A (p.Ser1004Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002591290] |
Chr12:49050577 [GRCh38]
Chr12:49444360 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7547C>G (p.Pro2516Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002637158] |
Chr12:49040223 [GRCh38]
Chr12:49434006 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.378T>C (p.Pro126=) |
single nucleotide variant |
KMT2D-related condition [RCV003906433]|Kabuki syndrome [RCV002998713] |
Chr12:49054550 [GRCh38]
Chr12:49448333 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13750C>A (p.Pro4584Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002844689] |
Chr12:49030690 [GRCh38]
Chr12:49424473 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3241C>A (p.Pro1081Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002885644]|KMT2D-related condition [RCV003409947]|Kabuki syndrome [RCV002885643] |
Chr12:49050347 [GRCh38]
Chr12:49444130 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6848A>T (p.Lys2283Met) |
single nucleotide variant |
Kabuki syndrome [RCV003079146] |
Chr12:49040922 [GRCh38]
Chr12:49434705 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1812A>G (p.Glu604=) |
single nucleotide variant |
Kabuki syndrome [RCV003002527] |
Chr12:49051871 [GRCh38]
Chr12:49445654 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.457G>C (p.Glu153Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002866315] |
Chr12:49054360 [GRCh38]
Chr12:49448143 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16401C>T (p.Gly5467=) |
single nucleotide variant |
Kabuki syndrome [RCV003053052] |
Chr12:49022291 [GRCh38]
Chr12:49416074 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6743G>A (p.Arg2248His) |
single nucleotide variant |
Inborn genetic diseases [RCV002707413] |
Chr12:49041027 [GRCh38]
Chr12:49434810 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1782G>A (p.Pro594=) |
single nucleotide variant |
Kabuki syndrome [RCV003077331] |
Chr12:49051901 [GRCh38]
Chr12:49445684 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13484T>C (p.Leu4495Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002820718] |
Chr12:49031221 [GRCh38]
Chr12:49425004 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16522-11del |
deletion |
Kabuki syndrome [RCV002948884] |
Chr12:49021883 [GRCh38]
Chr12:49415666 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5859G>A (p.Leu1953=) |
single nucleotide variant |
Kabuki syndrome [RCV002823876] |
Chr12:49042569 [GRCh38]
Chr12:49436352 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15760G>A (p.Val5254Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002570167] |
Chr12:49026206 [GRCh38]
Chr12:49419989 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11216A>G (p.Gln3739Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002979750] |
Chr12:49033489 [GRCh38]
Chr12:49427272 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5534-15_5534-14del |
microsatellite |
Kabuki syndrome [RCV002756938] |
Chr12:49043200..49043201 [GRCh38]
Chr12:49436983..49436984 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9308C>T (p.Ala3103Val) |
single nucleotide variant |
Kabuki syndrome [RCV002690766] |
Chr12:49038048 [GRCh38]
Chr12:49431831 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5083+11G>A |
single nucleotide variant |
Kabuki syndrome [RCV002781402] |
Chr12:49044392 [GRCh38]
Chr12:49438175 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13091del (p.Gln4364fs) |
deletion |
Kabuki syndrome [RCV003037472] |
Chr12:49031614 [GRCh38]
Chr12:49425397 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11667G>C (p.Leu3889=) |
single nucleotide variant |
Kabuki syndrome [RCV002761656] |
Chr12:49033038 [GRCh38]
Chr12:49426821 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2621G>C (p.Cys874Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002927396] |
Chr12:49051062 [GRCh38]
Chr12:49444845 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.16522-2A>G |
single nucleotide variant |
Kabuki syndrome [RCV003018033] |
Chr12:49021874 [GRCh38]
Chr12:49415657 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11847_11849del (p.Gln3954del) |
deletion |
Kabuki syndrome [RCV002705607] |
Chr12:49032856..49032858 [GRCh38]
Chr12:49426639..49426641 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3468C>T (p.Asp1156=) |
single nucleotide variant |
KMT2D-related condition [RCV003898895]|Kabuki syndrome [RCV002638051] |
Chr12:49050120 [GRCh38]
Chr12:49443903 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6720A>G (p.Thr2240=) |
single nucleotide variant |
Kabuki syndrome [RCV003079470] |
Chr12:49041050 [GRCh38]
Chr12:49434833 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2194C>A (p.Pro732Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002979965] |
Chr12:49051489 [GRCh38]
Chr12:49445272 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9312T>A (p.Ala3104=) |
single nucleotide variant |
Kabuki syndrome [RCV003080772] |
Chr12:49038044 [GRCh38]
Chr12:49431827 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1077C>T (p.Arg359=) |
single nucleotide variant |
Kabuki syndrome [RCV002949291] |
Chr12:49052950 [GRCh38]
Chr12:49446733 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9336A>G (p.Ala3112=) |
single nucleotide variant |
KMT2D-related condition [RCV003906446]|Kabuki syndrome [RCV002999756] |
Chr12:49038020 [GRCh38]
Chr12:49431803 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.1913C>G (p.Pro638Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002927588] |
Chr12:49051770 [GRCh38]
Chr12:49445553 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11352C>T (p.Gly3784=) |
single nucleotide variant |
Kabuki syndrome [RCV002735579] |
Chr12:49033353 [GRCh38]
Chr12:49427136 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.429T>C (p.Ala143=) |
single nucleotide variant |
Kabuki syndrome [RCV003036547] |
Chr12:49054388 [GRCh38]
Chr12:49448171 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7603C>T (p.Arg2535Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003418633]|Kabuki syndrome [RCV002913223] |
Chr12:49040167 [GRCh38]
Chr12:49433950 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3647C>T (p.Ala1216Val) |
single nucleotide variant |
Kabuki syndrome [RCV002952566] |
Chr12:49049941 [GRCh38]
Chr12:49443724 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3528_3530del (p.Gly1177del) |
deletion |
Kabuki syndrome [RCV002795486] |
Chr12:49050058..49050060 [GRCh38]
Chr12:49443841..49443843 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5291T>G (p.Leu1764Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002912817] |
Chr12:49043896 [GRCh38]
Chr12:49437679 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2957C>A (p.Pro986Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003020701] |
Chr12:49050631 [GRCh38]
Chr12:49444414 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11191G>A (p.Ala3731Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002844465] |
Chr12:49033514 [GRCh38]
Chr12:49427297 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2146A>T (p.Met716Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003053708] |
Chr12:49051537 [GRCh38]
Chr12:49445320 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4903C>G (p.Leu1635Val) |
single nucleotide variant |
Kabuki syndrome [RCV003080440] |
Chr12:49044804 [GRCh38]
Chr12:49438587 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1959A>G (p.Leu653=) |
single nucleotide variant |
Kabuki syndrome [RCV002734951] |
Chr12:49051724 [GRCh38]
Chr12:49445507 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3758A>G (p.Asp1253Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002820895] |
Chr12:49049830 [GRCh38]
Chr12:49443613 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12974C>T (p.Ser4325Phe) |
single nucleotide variant |
not provided [RCV002508586] |
Chr12:49031731 [GRCh38]
Chr12:49425514 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.12225C>G (p.Leu4075=) |
single nucleotide variant |
Kabuki syndrome [RCV002846611] |
Chr12:49032480 [GRCh38]
Chr12:49426263 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14565T>C (p.Asp4855=) |
single nucleotide variant |
Kabuki syndrome [RCV002695335] |
Chr12:49027881 [GRCh38]
Chr12:49421664 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11793_11801del (p.Gln3937_Gln3939del) |
deletion |
Kabuki syndrome [RCV002848313] |
Chr12:49032904..49032912 [GRCh38]
Chr12:49426687..49426695 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7703C>T (p.Pro2568Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002621697] |
Chr12:49040067 [GRCh38]
Chr12:49433850 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1376C>T (p.Ser459Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002927501] |
Chr12:49052307 [GRCh38]
Chr12:49446090 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16043A>G (p.His5348Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003039013] |
Chr12:49024587 [GRCh38]
Chr12:49418370 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2142G>A (p.Ser714=) |
single nucleotide variant |
Kabuki syndrome [RCV002690565] |
Chr12:49051541 [GRCh38]
Chr12:49445324 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2288C>T (p.Pro763Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002999008]|Kabuki syndrome [RCV002999007] |
Chr12:49051395 [GRCh38]
Chr12:49445178 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.1368A>T (p.Ser456=) |
single nucleotide variant |
Kabuki syndrome [RCV002638393] |
Chr12:49052315 [GRCh38]
Chr12:49446098 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2650C>T (p.Pro884Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003080282] |
Chr12:49051033 [GRCh38]
Chr12:49444816 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13345C>T (p.Leu4449Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002706729] |
Chr12:49031360 [GRCh38]
Chr12:49425143 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7570_7573dup (p.Gly2525fs) |
duplication |
Kabuki syndrome [RCV002866229] |
Chr12:49040196..49040197 [GRCh38]
Chr12:49433979..49433980 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9406A>G (p.Ile3136Val) |
single nucleotide variant |
Kabuki syndrome [RCV002637044] |
Chr12:49037950 [GRCh38]
Chr12:49431733 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1112+15C>T |
single nucleotide variant |
Kabuki syndrome [RCV002662389] |
Chr12:49052900 [GRCh38]
Chr12:49446683 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2913A>G (p.Ser971=) |
single nucleotide variant |
Kabuki syndrome [RCV002622663] |
Chr12:49050675 [GRCh38]
Chr12:49444458 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.954+9A>G |
single nucleotide variant |
KMT2D-related condition [RCV003898699]|Kabuki syndrome [RCV003037837] |
Chr12:49053198 [GRCh38]
Chr12:49446981 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10326C>T (p.Gly3442=) |
single nucleotide variant |
Kabuki syndrome [RCV002979216] |
Chr12:49034841 [GRCh38]
Chr12:49428624 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12225_12227del (p.Leu4077del) |
deletion |
Kabuki syndrome [RCV002695208] |
Chr12:49032478..49032480 [GRCh38]
Chr12:49426261..49426263 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3718A>G (p.Met1240Val) |
single nucleotide variant |
Kabuki syndrome [RCV002913500] |
Chr12:49049870 [GRCh38]
Chr12:49443653 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1827C>T (p.Ser609=) |
single nucleotide variant |
Kabuki syndrome [RCV002662393] |
Chr12:49051856 [GRCh38]
Chr12:49445639 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12606A>C (p.Gln4202His) |
single nucleotide variant |
Kabuki syndrome [RCV002913686] |
Chr12:49032099 [GRCh38]
Chr12:49425882 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16522-10C>A |
single nucleotide variant |
Kabuki syndrome [RCV002948517] |
Chr12:49021882 [GRCh38]
Chr12:49415665 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14336G>A (p.Gly4779Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002756940] |
Chr12:49028874 [GRCh38]
Chr12:49422657 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16275G>A (p.Glu5425=) |
single nucleotide variant |
Kabuki syndrome [RCV002909397] |
Chr12:49022653 [GRCh38]
Chr12:49416436 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13764G>C (p.Gln4588His) |
single nucleotide variant |
Kabuki syndrome [RCV002976617]|not provided [RCV003389913] |
Chr12:49030676 [GRCh38]
Chr12:49424459 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.1113-8C>T |
single nucleotide variant |
Kabuki syndrome [RCV002926973] |
Chr12:49052717 [GRCh38]
Chr12:49446500 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15529A>G (p.Met5177Val) |
single nucleotide variant |
Kabuki syndrome [RCV003078136] |
Chr12:49026437 [GRCh38]
Chr12:49420220 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1259-18G>A |
single nucleotide variant |
Kabuki syndrome [RCV002637948] |
Chr12:49052442 [GRCh38]
Chr12:49446225 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13965T>C (p.Ala4655=) |
single nucleotide variant |
Kabuki syndrome [RCV002705320] |
Chr12:49030314 [GRCh38]
Chr12:49424097 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2488G>A (p.Glu830Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002870666] |
Chr12:49051195 [GRCh38]
Chr12:49444978 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7383C>G (p.Asp2461Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002640132] |
Chr12:49040387 [GRCh38]
Chr12:49434170 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10342C>A (p.Pro3448Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002622768] |
Chr12:49034825 [GRCh38]
Chr12:49428608 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10262T>C (p.Ile3421Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002637300] |
Chr12:49034905 [GRCh38]
Chr12:49428688 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9343C>G (p.Leu3115Val) |
single nucleotide variant |
Kabuki syndrome [RCV002796793] |
Chr12:49038013 [GRCh38]
Chr12:49431796 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16515A>T (p.Gly5505=) |
single nucleotide variant |
Kabuki syndrome [RCV002868065] |
Chr12:49022049 [GRCh38]
Chr12:49415832 [GRCh37]
Chr12:12q13.12 |
pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.510+11G>A |
single nucleotide variant |
Kabuki syndrome [RCV002761281] |
Chr12:49054296 [GRCh38]
Chr12:49448079 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14824G>C (p.Ala4942Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002620903] |
Chr12:49027142 [GRCh38]
Chr12:49420925 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15366G>A (p.Lys5122=) |
single nucleotide variant |
Kabuki syndrome [RCV002736799] |
Chr12:49026600 [GRCh38]
Chr12:49420383 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13530+6T>C |
single nucleotide variant |
KMT2D-related condition [RCV003963616]|Kabuki syndrome [RCV003079910] |
Chr12:49031169 [GRCh38]
Chr12:49424952 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4390G>A (p.Val1464Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003036353] |
Chr12:49046637 [GRCh38]
Chr12:49440420 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8866A>G (p.Thr2956Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002638252] |
Chr12:49038490 [GRCh38]
Chr12:49432273 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10803_10817dup (p.Gln3612_His3613insGlnGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV002870699] |
Chr12:49033887..49033888 [GRCh38]
Chr12:49427670..49427671 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2824A>G (p.Ile942Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002757333] |
Chr12:49050764 [GRCh38]
Chr12:49444547 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6110-18_6110-15del |
microsatellite |
Kabuki syndrome [RCV002998714] |
Chr12:49042005..49042008 [GRCh38]
Chr12:49435788..49435791 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13547A>G (p.Lys4516Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002979599] |
Chr12:49031017 [GRCh38]
Chr12:49424800 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5877G>A (p.Gly1959=) |
single nucleotide variant |
Kabuki syndrome [RCV003018300] |
Chr12:49042321 [GRCh38]
Chr12:49436104 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3695C>T (p.Pro1232Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003078724] |
Chr12:49049893 [GRCh38]
Chr12:49443676 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7287T>A (p.Pro2429=) |
single nucleotide variant |
Kabuki syndrome [RCV003078967] |
Chr12:49040483 [GRCh38]
Chr12:49434266 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5440A>G (p.Arg1814Gly) |
single nucleotide variant |
KMT2D-related condition [RCV003936582]|Kabuki syndrome [RCV002591923] |
Chr12:49043662 [GRCh38]
Chr12:49437445 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.3906+11A>G |
single nucleotide variant |
Kabuki syndrome [RCV002979797] |
Chr12:49049671 [GRCh38]
Chr12:49443454 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1923A>G (p.Glu641=) |
single nucleotide variant |
Kabuki syndrome [RCV003038597] |
Chr12:49051760 [GRCh38]
Chr12:49445543 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1404A>T (p.Ser468=) |
single nucleotide variant |
Kabuki syndrome [RCV002761500] |
Chr12:49052279 [GRCh38]
Chr12:49446062 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12019C>A (p.Gln4007Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002636825] |
Chr12:49032686 [GRCh38]
Chr12:49426469 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8365C>T (p.Arg2789Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003427582]|Kabuki syndrome [RCV002637473]|not provided [RCV003395621] |
Chr12:49039223 [GRCh38]
Chr12:49433006 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6421G>T (p.Gly2141Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002662509] |
Chr12:49041349 [GRCh38]
Chr12:49435132 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1425C>G (p.Pro475=) |
single nucleotide variant |
Kabuki syndrome [RCV002976314] |
Chr12:49052258 [GRCh38]
Chr12:49446041 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13440C>A (p.Ser4480=) |
single nucleotide variant |
Kabuki syndrome [RCV003018389] |
Chr12:49031265 [GRCh38]
Chr12:49425048 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8367-13T>G |
single nucleotide variant |
Kabuki syndrome [RCV002795736] |
Chr12:49039002 [GRCh38]
Chr12:49432785 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16522-4T>C |
single nucleotide variant |
Kabuki syndrome [RCV002866800] |
Chr12:49021876 [GRCh38]
Chr12:49415659 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13340A>G (p.Asn4447Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003898618]|Kabuki syndrome [RCV002952590] |
Chr12:49031365 [GRCh38]
Chr12:49425148 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.5374G>A (p.Val1792Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003898677]|Kabuki syndrome [RCV003002249] |
Chr12:49043728 [GRCh38]
Chr12:49437511 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.400+20C>A |
single nucleotide variant |
Kabuki syndrome [RCV002848289] |
Chr12:49054508 [GRCh38]
Chr12:49448291 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4131+6A>G |
single nucleotide variant |
Kabuki syndrome [RCV002948986] |
Chr12:49048653 [GRCh38]
Chr12:49442436 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3645T>C (p.Asp1215=) |
single nucleotide variant |
Kabuki syndrome [RCV002735586] |
Chr12:49049943 [GRCh38]
Chr12:49443726 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8802C>T (p.Pro2934=) |
single nucleotide variant |
Kabuki syndrome [RCV002913824] |
Chr12:49038554 [GRCh38]
Chr12:49432337 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6011A>G (p.Gln2004Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003052907] |
Chr12:49042187 [GRCh38]
Chr12:49435970 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.300G>A (p.Gly100=) |
single nucleotide variant |
Kabuki syndrome [RCV003053943] |
Chr12:49054628 [GRCh38]
Chr12:49448411 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10232-1G>A |
single nucleotide variant |
Kabuki syndrome [RCV002912620] |
Chr12:49034936 [GRCh38]
Chr12:49428719 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.585C>A (p.Phe195Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003080027] |
Chr12:49054066 [GRCh38]
Chr12:49447849 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5946C>T (p.Ser1982=) |
single nucleotide variant |
Kabuki syndrome [RCV003080285] |
Chr12:49042252 [GRCh38]
Chr12:49436035 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10167G>T (p.Met3389Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002695366] |
Chr12:49037189 [GRCh38]
Chr12:49430972 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15683_15688del (p.Tyr5228_Arg5229del) |
deletion |
Kabuki syndrome [RCV003021104] |
Chr12:49026278..49026283 [GRCh38]
Chr12:49420061..49420066 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4260G>A (p.Lys1420=) |
single nucleotide variant |
Kabuki syndrome [RCV002848310] |
Chr12:49046767 [GRCh38]
Chr12:49440550 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1801C>G (p.Pro601Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002761558] |
Chr12:49051882 [GRCh38]
Chr12:49445665 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15807G>A (p.Glu5269=) |
single nucleotide variant |
Kabuki syndrome [RCV002923366] |
Chr12:49024924 [GRCh38]
Chr12:49418707 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9326C>A (p.Pro3109His) |
single nucleotide variant |
Kabuki syndrome [RCV002638121] |
Chr12:49038030 [GRCh38]
Chr12:49431813 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.767del (p.Leu256fs) |
deletion |
Kabuki syndrome [RCV002848156] |
Chr12:49053548 [GRCh38]
Chr12:49447331 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6535C>T (p.Leu2179=) |
single nucleotide variant |
Kabuki syndrome [RCV002952989] |
Chr12:49041235 [GRCh38]
Chr12:49435018 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13286A>G (p.Gln4429Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002690638] |
Chr12:49031419 [GRCh38]
Chr12:49425202 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002805334]|Kabuki syndrome 1 [RCV003111592]|Kabuki syndrome [RCV002781016] |
Chr12:49031912 [GRCh38]
Chr12:49425695 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3782C>T (p.Thr1261Ile) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003455625]|Kabuki syndrome [RCV002949144] |
Chr12:49049806 [GRCh38]
Chr12:49443589 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16314G>A (p.Arg5438=) |
single nucleotide variant |
Kabuki syndrome [RCV002637614] |
Chr12:49022614 [GRCh38]
Chr12:49416397 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1620_1781del (p.Pro544_Ser597del) |
deletion |
not provided [RCV003037096] |
Chr12:49051902..49052063 [GRCh38]
Chr12:49445685..49445846 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1033C>G (p.Leu345Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002885867]|Kabuki syndrome [RCV002885868] |
Chr12:49052994 [GRCh38]
Chr12:49446777 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.16014T>C (p.Cys5338=) |
single nucleotide variant |
Kabuki syndrome [RCV002876557] |
Chr12:49024616 [GRCh38]
Chr12:49418399 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13673A>C (p.Glu4558Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003022330] |
Chr12:49030767 [GRCh38]
Chr12:49424550 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14295C>A (p.Val4765=) |
single nucleotide variant |
Kabuki syndrome [RCV003085715] |
Chr12:49028915 [GRCh38]
Chr12:49422698 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13633G>A (p.Val4545Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002957801]|Kabuki syndrome [RCV002957800] |
Chr12:49030931 [GRCh38]
Chr12:49424714 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6313C>T (p.Arg2105Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002700120] |
Chr12:49041457 [GRCh38]
Chr12:49435240 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13615C>T (p.Leu4539=) |
single nucleotide variant |
Kabuki syndrome [RCV002626074] |
Chr12:49030949 [GRCh38]
Chr12:49424732 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8406A>T (p.Ala2802=) |
single nucleotide variant |
Kabuki syndrome [RCV003043447] |
Chr12:49038950 [GRCh38]
Chr12:49432733 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11738AGC[4] (p.Gln3917_Gln3919del) |
microsatellite |
KMT2D-related condition [RCV003963365]|Kabuki syndrome [RCV002791546] |
Chr12:49032947..49032955 [GRCh38]
Chr12:49426730..49426738 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4956G>A (p.Lys1652=) |
single nucleotide variant |
Kabuki syndrome [RCV002644143] |
Chr12:49044751 [GRCh38]
Chr12:49438534 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3120C>A (p.Ser1040=) |
single nucleotide variant |
Kabuki syndrome [RCV002574629] |
Chr12:49050468 [GRCh38]
Chr12:49444251 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6386C>T (p.Pro2129Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002700805] |
Chr12:49041384 [GRCh38]
Chr12:49435167 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15251T>C (p.Leu5084Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003008172] |
Chr12:49026715 [GRCh38]
Chr12:49420498 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10831C>G (p.Gln3611Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002826074] |
Chr12:49033874 [GRCh38]
Chr12:49427657 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9943C>T (p.Leu3315=) |
single nucleotide variant |
Kabuki syndrome [RCV002576328] |
Chr12:49037413 [GRCh38]
Chr12:49431196 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10015C>T (p.Leu3339Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002668045] |
Chr12:49037341 [GRCh38]
Chr12:49431124 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6285dup (p.Lys2096Ter) |
duplication |
Kabuki syndrome [RCV003008201] |
Chr12:49041484..49041485 [GRCh38]
Chr12:49435267..49435268 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5084-16C>T |
single nucleotide variant |
Kabuki syndrome [RCV003056193] |
Chr12:49044320 [GRCh38]
Chr12:49438103 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15156G>A (p.Leu5052=) |
single nucleotide variant |
KMT2D-related condition [RCV003898846]|Kabuki syndrome [RCV002595665] |
Chr12:49026810 [GRCh38]
Chr12:49420593 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1487C>T (p.Pro496Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002918923] |
Chr12:49052196 [GRCh38]
Chr12:49445979 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6565T>C (p.Phe2189Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002667133] |
Chr12:49041205 [GRCh38]
Chr12:49434988 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14530G>A (p.Gly4844Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002709135] |
Chr12:49027916 [GRCh38]
Chr12:49421699 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1040A>G (p.His347Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002596298] |
Chr12:49052987 [GRCh38]
Chr12:49446770 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6165T>C (p.Ala2055=) |
single nucleotide variant |
Kabuki syndrome [RCV002597284] |
Chr12:49041935 [GRCh38]
Chr12:49435718 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8320C>T (p.Arg2774Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002933312] |
Chr12:49039268 [GRCh38]
Chr12:49433051 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7550A>G (p.Asn2517Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002890380] |
Chr12:49040220 [GRCh38]
Chr12:49434003 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10150A>T (p.Thr3384Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003898726]|Kabuki syndrome [RCV003056784] |
Chr12:49037206 [GRCh38]
Chr12:49430989 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.187G>T (p.Val63Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003005908] |
Chr12:49054741 [GRCh38]
Chr12:49448524 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5495A>C (p.Glu1832Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002766989] |
Chr12:49043401 [GRCh38]
Chr12:49437184 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2498T>G (p.Leu833Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003042718] |
Chr12:49051185 [GRCh38]
Chr12:49444968 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14643G>A (p.Gln4881=) |
single nucleotide variant |
Kabuki syndrome [RCV002597371] |
Chr12:49027803 [GRCh38]
Chr12:49421586 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9329G>A (p.Arg3110His) |
single nucleotide variant |
Kabuki syndrome [RCV003007378] |
Chr12:49038027 [GRCh38]
Chr12:49431810 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16527C>T (p.Thr5509=) |
single nucleotide variant |
Kabuki syndrome [RCV002712073] |
Chr12:49021867 [GRCh38]
Chr12:49415650 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14252-20A>T |
single nucleotide variant |
Kabuki syndrome [RCV002712108] |
Chr12:49028978 [GRCh38]
Chr12:49422761 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13523A>G (p.Asn4508Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003026245]|not provided [RCV003389914] |
Chr12:49031182 [GRCh38]
Chr12:49424965 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6383G>A (p.Ser2128Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002667255] |
Chr12:49041387 [GRCh38]
Chr12:49435170 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.699G>A (p.Glu233=) |
single nucleotide variant |
Kabuki syndrome [RCV003043262] |
Chr12:49053616 [GRCh38]
Chr12:49447399 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.20C>T (p.Ala7Val) |
single nucleotide variant |
Kabuki syndrome [RCV002741059] |
Chr12:49055305 [GRCh38]
Chr12:49449088 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16264A>G (p.Met5422Val) |
single nucleotide variant |
Kabuki syndrome [RCV002741063] |
Chr12:49022664 [GRCh38]
Chr12:49416447 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6614C>A (p.Ala2205Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002710615] |
Chr12:49041156 [GRCh38]
Chr12:49434939 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3129T>C (p.Ser1043=) |
single nucleotide variant |
Kabuki syndrome [RCV002765880] |
Chr12:49050459 [GRCh38]
Chr12:49444242 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11801_11842del (p.Gln3934_Gln3947del) |
deletion |
Kabuki syndrome [RCV002595853] |
Chr12:49032863..49032904 [GRCh38]
Chr12:49426646..49426687 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3383T>C (p.Ile1128Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002596424] |
Chr12:49050205 [GRCh38]
Chr12:49443988 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.839+14G>A |
single nucleotide variant |
Kabuki syndrome [RCV002853186] |
Chr12:49053462 [GRCh38]
Chr12:49447245 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5113A>C (p.Lys1705Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003059465] |
Chr12:49044275 [GRCh38]
Chr12:49438058 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10195C>G (p.Gln3399Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002830534] |
Chr12:49037161 [GRCh38]
Chr12:49430944 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11861A>C (p.Gln3954Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002644520] |
Chr12:49032844 [GRCh38]
Chr12:49426627 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11095T>G (p.Phe3699Val) |
single nucleotide variant |
Kabuki syndrome [RCV002790166] |
Chr12:49033610 [GRCh38]
Chr12:49427393 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6570dup (p.Thr2191fs) |
duplication |
Kabuki syndrome [RCV003025855] |
Chr12:49041199..49041200 [GRCh38]
Chr12:49434982..49434983 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13610A>G (p.Lys4537Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003043286] |
Chr12:49030954 [GRCh38]
Chr12:49424737 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.80G>A (p.Ser27Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002919150] |
Chr12:49054996 [GRCh38]
Chr12:49448779 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10441-18C>T |
single nucleotide variant |
Kabuki syndrome [RCV002745555] |
Chr12:49034494 [GRCh38]
Chr12:49428277 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14841C>T (p.Pro4947=) |
single nucleotide variant |
Kabuki syndrome [RCV003043324] |
Chr12:49027125 [GRCh38]
Chr12:49420908 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8402G>A (p.Arg2801Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002644000] |
Chr12:49038954 [GRCh38]
Chr12:49432737 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7556T>C (p.Val2519Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002982574] |
Chr12:49040214 [GRCh38]
Chr12:49433997 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.845C>G (p.Pro282Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002805776] |
Chr12:49053316 [GRCh38]
Chr12:49447099 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.681T>C (p.Ala227=) |
single nucleotide variant |
Kabuki syndrome [RCV003084641] |
Chr12:49053634 [GRCh38]
Chr12:49447417 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1482C>T (p.Leu494=) |
single nucleotide variant |
Kabuki syndrome [RCV002890066] |
Chr12:49052201 [GRCh38]
Chr12:49445984 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2021C>T (p.Pro674Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002928835] |
Chr12:49051662 [GRCh38]
Chr12:49445445 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12969A>G (p.Leu4323=) |
single nucleotide variant |
Kabuki syndrome [RCV003057003] |
Chr12:49031736 [GRCh38]
Chr12:49425519 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6520C>A (p.Gln2174Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002666760] |
Chr12:49041250 [GRCh38]
Chr12:49435033 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8935C>T (p.Leu2979=) |
single nucleotide variant |
Kabuki syndrome [RCV003042340] |
Chr12:49038421 [GRCh38]
Chr12:49432204 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10508-20C>T |
single nucleotide variant |
Kabuki syndrome [RCV002667952] |
Chr12:49034319 [GRCh38]
Chr12:49428102 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.674-11A>G |
single nucleotide variant |
Kabuki syndrome [RCV002645604] |
Chr12:49053652 [GRCh38]
Chr12:49447435 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5783-11C>T |
single nucleotide variant |
Kabuki syndrome [RCV003023381] |
Chr12:49042656 [GRCh38]
Chr12:49436439 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5907C>T (p.Pro1969=) |
single nucleotide variant |
Kabuki syndrome [RCV003083406] |
Chr12:49042291 [GRCh38]
Chr12:49436074 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13177_13178del (p.Ser4393fs) |
deletion |
Kabuki syndrome [RCV003058148] |
Chr12:49031527..49031528 [GRCh38]
Chr12:49425310..49425311 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6314G>T (p.Arg2105Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002875108] |
Chr12:49041456 [GRCh38]
Chr12:49435239 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8047-4A>G |
single nucleotide variant |
Kabuki syndrome [RCV003058325] |
Chr12:49039621 [GRCh38]
Chr12:49433404 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2997G>A (p.Met999Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003040247] |
Chr12:49050591 [GRCh38]
Chr12:49444374 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15785-8C>T |
single nucleotide variant |
Kabuki syndrome [RCV002594648] |
Chr12:49024954 [GRCh38]
Chr12:49418737 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4237-3C>G |
single nucleotide variant |
Kabuki syndrome [RCV002828160] |
Chr12:49046793 [GRCh38]
Chr12:49440576 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13117G>A (p.Gly4373Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003083588] |
Chr12:49031588 [GRCh38]
Chr12:49425371 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14503G>A (p.Ala4835Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003269480]|KMT2D-related condition [RCV003404098]|Kabuki syndrome [RCV002595709] |
Chr12:49028021 [GRCh38]
Chr12:49421804 [GRCh37]
Chr12:12q13.12 |
benign|likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2962G>C (p.Ala988Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003274308]|Kabuki syndrome [RCV002625078] |
Chr12:49050626 [GRCh38]
Chr12:49444409 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9604A>C (p.Ser3202Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003082083] |
Chr12:49037752 [GRCh38]
Chr12:49431535 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3515G>A (p.Cys1172Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003040768] |
Chr12:49050073 [GRCh38]
Chr12:49443856 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12609A>C (p.Gly4203=) |
single nucleotide variant |
KMT2D-related condition [RCV003898611]|Kabuki syndrome [RCV002914935] |
Chr12:49032096 [GRCh38]
Chr12:49425879 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2436G>A (p.Glu812=) |
single nucleotide variant |
Kabuki syndrome [RCV003056107] |
Chr12:49051247 [GRCh38]
Chr12:49445030 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8379A>T (p.Gly2793=) |
single nucleotide variant |
Kabuki syndrome [RCV002663494] |
Chr12:49038977 [GRCh38]
Chr12:49432760 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9524G>A (p.Ser3175Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002624129] |
Chr12:49037832 [GRCh38]
Chr12:49431615 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12796T>A (p.Phe4266Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002788966] |
Chr12:49031909 [GRCh38]
Chr12:49425692 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2777C>T (p.Ser926Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003418580]|Kabuki syndrome [RCV002643520] |
Chr12:49050906 [GRCh38]
Chr12:49444689 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4756C>T (p.Arg1586Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002700327] |
Chr12:49044951 [GRCh38]
Chr12:49438734 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3527C>T (p.Ala1176Val) |
single nucleotide variant |
Kabuki syndrome [RCV002786325] |
Chr12:49050061 [GRCh38]
Chr12:49443844 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12466del (p.Gln4156fs) |
deletion |
Inborn genetic diseases [RCV002826733] |
Chr12:49032239 [GRCh38]
Chr12:49426022 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4963+20G>A |
single nucleotide variant |
Kabuki syndrome [RCV003023066] |
Chr12:49044724 [GRCh38]
Chr12:49438507 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7131A>G (p.Pro2377=) |
single nucleotide variant |
Kabuki syndrome [RCV002765398] |
Chr12:49040639 [GRCh38]
Chr12:49434422 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7818G>T (p.Gly2606=) |
single nucleotide variant |
Kabuki syndrome [RCV002954316] |
Chr12:49039952 [GRCh38]
Chr12:49433735 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1749T>C (p.Pro583=) |
single nucleotide variant |
Kabuki syndrome [RCV002642521] |
Chr12:49051934 [GRCh38]
Chr12:49445717 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9029C>T (p.Ala3010Val) |
single nucleotide variant |
Kabuki syndrome [RCV002574197] |
Chr12:49038327 [GRCh38]
Chr12:49432110 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8329C>G (p.Pro2777Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002711020] |
Chr12:49039259 [GRCh38]
Chr12:49433042 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.317A>G (p.Asn106Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002890424]|Kabuki syndrome [RCV002890423] |
Chr12:49054611 [GRCh38]
Chr12:49448394 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11882A>C (p.Gln3961Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002890663] |
Chr12:49032823 [GRCh38]
Chr12:49426606 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.6299C>T (p.Pro2100Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002982668] |
Chr12:49041471 [GRCh38]
Chr12:49435254 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14817A>G (p.Glu4939=) |
single nucleotide variant |
Kabuki syndrome [RCV002643722] |
Chr12:49027149 [GRCh38]
Chr12:49420932 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13669C>A (p.Gln4557Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002890918] |
Chr12:49030895 [GRCh38]
Chr12:49424678 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10507+14G>A |
single nucleotide variant |
Kabuki syndrome [RCV002624829] |
Chr12:49034396 [GRCh38]
Chr12:49428179 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2337A>G (p.Leu779=) |
single nucleotide variant |
Kabuki syndrome [RCV002766346] |
Chr12:49051346 [GRCh38]
Chr12:49445129 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5429dup (p.Gly1811fs) |
duplication |
Kabuki syndrome [RCV002914778] |
Chr12:49043672..49043673 [GRCh38]
Chr12:49437455..49437456 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10514C>G (p.Ala3505Gly) |
single nucleotide variant |
not provided [RCV002508403] |
Chr12:49034293 [GRCh38]
Chr12:49428076 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2919G>A (p.Leu973=) |
single nucleotide variant |
Kabuki syndrome [RCV003057202] |
Chr12:49050669 [GRCh38]
Chr12:49444452 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2210G>A (p.Arg737Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002624688] |
Chr12:49051473 [GRCh38]
Chr12:49445256 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4132-19T>C |
single nucleotide variant |
Kabuki syndrome [RCV002851958] |
Chr12:49048088 [GRCh38]
Chr12:49441871 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5140C>A (p.Pro1714Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002765879] |
Chr12:49044248 [GRCh38]
Chr12:49438031 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1754C>T (p.Pro585Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002572243] |
Chr12:49051929 [GRCh38]
Chr12:49445712 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1800C>G (p.Phe600Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003022446] |
Chr12:49051883 [GRCh38]
Chr12:49445666 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14383-15C>T |
single nucleotide variant |
Kabuki syndrome [RCV003055906] |
Chr12:49028156 [GRCh38]
Chr12:49421939 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7187G>A (p.Cys2396Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003083546] |
Chr12:49040583 [GRCh38]
Chr12:49434366 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6590C>T (p.Pro2197Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002765292] |
Chr12:49041180 [GRCh38]
Chr12:49434963 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14957G>A (p.Arg4986His) |
single nucleotide variant |
Kabuki syndrome [RCV002643021] |
Chr12:49027009 [GRCh38]
Chr12:49420792 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.486G>A (p.Lys162=) |
single nucleotide variant |
KMT2D-related condition [RCV003896240]|Kabuki syndrome [RCV002574396] |
Chr12:49054331 [GRCh38]
Chr12:49448114 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8682G>A (p.Pro2894=) |
single nucleotide variant |
Kabuki syndrome [RCV002667542] |
Chr12:49038674 [GRCh38]
Chr12:49432457 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7174C>T (p.Pro2392Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002895557]|Kabuki syndrome [RCV002917486] |
Chr12:49040596 [GRCh38]
Chr12:49434379 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.10025G>A (p.Arg3342His) |
single nucleotide variant |
Kabuki syndrome [RCV002700761] |
Chr12:49037331 [GRCh38]
Chr12:49431114 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.161C>G (p.Thr54Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003057651] |
Chr12:49054915 [GRCh38]
Chr12:49448698 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.81dup (p.Ala28fs) |
duplication |
Kabuki syndrome [RCV002875641] |
Chr12:49054994..49054995 [GRCh38]
Chr12:49448777..49448778 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5273G>C (p.Gly1758Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003042797] |
Chr12:49043914 [GRCh38]
Chr12:49437697 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14512C>T (p.Pro4838Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002572307] |
Chr12:49028012 [GRCh38]
Chr12:49421795 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10221C>T (p.Phe3407=) |
single nucleotide variant |
Kabuki syndrome [RCV002890042] |
Chr12:49037135 [GRCh38]
Chr12:49430918 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8396A>G (p.Tyr2799Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002983101] |
Chr12:49038960 [GRCh38]
Chr12:49432743 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7799C>A (p.Ser2600Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV002642710] |
Chr12:49039971 [GRCh38]
Chr12:49433754 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7105T>C (p.Phe2369Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002700811] |
Chr12:49040665 [GRCh38]
Chr12:49434448 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7260C>T (p.Ser2420=) |
single nucleotide variant |
Kabuki syndrome [RCV002664072] |
Chr12:49040510 [GRCh38]
Chr12:49434293 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8235G>A (p.Lys2745=) |
single nucleotide variant |
Kabuki syndrome [RCV002710490] |
Chr12:49039353 [GRCh38]
Chr12:49433136 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16154C>G (p.Ser5385Ter) |
single nucleotide variant |
Kabuki syndrome [RCV002852473] |
Chr12:49022774 [GRCh38]
Chr12:49416557 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7049A>G (p.Gln2350Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002596272] |
Chr12:49040721 [GRCh38]
Chr12:49434504 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10167G>A (p.Met3389Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002790747] |
Chr12:49037189 [GRCh38]
Chr12:49430972 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10723C>G (p.Gln3575Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002791347] |
Chr12:49034084 [GRCh38]
Chr12:49427867 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10631C>T (p.Ala3544Val) |
single nucleotide variant |
Kabuki syndrome [RCV002791348] |
Chr12:49034176 [GRCh38]
Chr12:49427959 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10629T>C (p.Cys3543=) |
single nucleotide variant |
Kabuki syndrome [RCV002791349] |
Chr12:49034178 [GRCh38]
Chr12:49427961 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15979A>C (p.Met5327Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002625000] |
Chr12:49024651 [GRCh38]
Chr12:49418434 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11696A>G (p.Gln3899Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002894344] |
Chr12:49033009 [GRCh38]
Chr12:49426792 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11711A>G (p.Gln3904Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002597034] |
Chr12:49032994 [GRCh38]
Chr12:49426777 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12152T>A (p.Ile4051Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002914725] |
Chr12:49032553 [GRCh38]
Chr12:49426336 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6235-11T>C |
single nucleotide variant |
Kabuki syndrome [RCV002623746] |
Chr12:49041546 [GRCh38]
Chr12:49435329 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10231+5C>T |
single nucleotide variant |
Kabuki syndrome [RCV002667824] |
Chr12:49037120 [GRCh38]
Chr12:49430903 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.186G>A (p.Pro62=) |
single nucleotide variant |
KMT2D-related condition [RCV003963541]|Kabuki syndrome [RCV002982919] |
Chr12:49054742 [GRCh38]
Chr12:49448525 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2445G>C (p.Leu815=) |
single nucleotide variant |
KMT2D-related condition [RCV003898512]|Kabuki syndrome [RCV002765396] |
Chr12:49051238 [GRCh38]
Chr12:49445021 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2470_2523del (p.Gln827_Pro844del) |
deletion |
Kabuki syndrome [RCV002876072] |
Chr12:49051160..49051213 [GRCh38]
Chr12:49444943..49444996 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12455T>C (p.Leu4152Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003022637] |
Chr12:49032250 [GRCh38]
Chr12:49426033 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10214G>C (p.Ser3405Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003418697]|Kabuki syndrome [RCV002982666] |
Chr12:49037142 [GRCh38]
Chr12:49430925 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14487G>A (p.Glu4829=) |
single nucleotide variant |
Kabuki syndrome [RCV002852843] |
Chr12:49028037 [GRCh38]
Chr12:49421820 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5756C>T (p.Thr1919Met) |
single nucleotide variant |
KMT2D-related condition [RCV003418666]|Kabuki syndrome [RCV002929189] |
Chr12:49042767 [GRCh38]
Chr12:49436550 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13247A>G (p.Lys4416Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002929192] |
Chr12:49031458 [GRCh38]
Chr12:49425241 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13839+16A>G |
single nucleotide variant |
Kabuki syndrome [RCV003084060] |
Chr12:49030585 [GRCh38]
Chr12:49424368 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6552C>T (p.Pro2184=) |
single nucleotide variant |
Kabuki syndrome [RCV002643495] |
Chr12:49041218 [GRCh38]
Chr12:49435001 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7445G>C (p.Gly2482Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003058874]|not specified [RCV003491217] |
Chr12:49040325 [GRCh38]
Chr12:49434108 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11865_11870del (p.Gln3964_Gln3965del) |
deletion |
Kabuki syndrome [RCV003003340] |
Chr12:49032835..49032840 [GRCh38]
Chr12:49426618..49426623 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6991del (p.Pro2330_Leu2331insTer) |
deletion |
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome [RCV002790000] |
Chr12:49040779 [GRCh38]
Chr12:49434562 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14541C>T (p.Gly4847=) |
single nucleotide variant |
Kabuki syndrome [RCV002667194] |
Chr12:49027905 [GRCh38]
Chr12:49421688 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6853C>G (p.Leu2285Val) |
single nucleotide variant |
Kabuki syndrome [RCV003085541] |
Chr12:49040917 [GRCh38]
Chr12:49434700 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13585A>G (p.Ser4529Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003022923] |
Chr12:49030979 [GRCh38]
Chr12:49424762 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12549G>A (p.Gln4183=) |
single nucleotide variant |
Kabuki syndrome [RCV002852614] |
Chr12:49032156 [GRCh38]
Chr12:49425939 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14491A>C (p.Lys4831Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003410105]|Kabuki syndrome [RCV002595867] |
Chr12:49028033 [GRCh38]
Chr12:49421816 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15045G>A (p.Gln5015=) |
single nucleotide variant |
Kabuki syndrome [RCV002701249] |
Chr12:49026921 [GRCh38]
Chr12:49420704 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5189-14C>T |
single nucleotide variant |
Kabuki syndrome [RCV002917434] |
Chr12:49044012 [GRCh38]
Chr12:49437795 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15924G>A (p.Leu5308=) |
single nucleotide variant |
Kabuki syndrome [RCV003057823] |
Chr12:49024706 [GRCh38]
Chr12:49418489 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11594A>G (p.Gln3865Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002700447] |
Chr12:49033111 [GRCh38]
Chr12:49426894 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13672-14C>T |
single nucleotide variant |
Kabuki syndrome [RCV002575545] |
Chr12:49030782 [GRCh38]
Chr12:49424565 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9200A>G (p.Asn3067Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002576156] |
Chr12:49038156 [GRCh38]
Chr12:49431939 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16061C>T (p.Thr5354Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002667864] |
Chr12:49022867 [GRCh38]
Chr12:49416650 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7186T>C (p.Cys2396Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002928500] |
Chr12:49040584 [GRCh38]
Chr12:49434367 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8843C>T (p.Pro2948Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002787092]|Kabuki syndrome [RCV003753250] |
Chr12:49038513 [GRCh38]
Chr12:49432296 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14701C>G (p.Leu4901Val) |
single nucleotide variant |
Kabuki syndrome [RCV003005098]|not provided [RCV003134585] |
Chr12:49027265 [GRCh38]
Chr12:49421048 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.5922G>A (p.Thr1974=) |
single nucleotide variant |
KMT2D-related condition [RCV003916755]|Kabuki syndrome [RCV003084554] |
Chr12:49042276 [GRCh38]
Chr12:49436059 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13923C>T (p.Gly4641=) |
single nucleotide variant |
Kabuki syndrome [RCV002741587] |
Chr12:49030356 [GRCh38]
Chr12:49424139 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16329C>T (p.Tyr5443=) |
single nucleotide variant |
Kabuki syndrome [RCV003083537] |
Chr12:49022599 [GRCh38]
Chr12:49416382 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9265G>T (p.Val3089Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003057980] |
Chr12:49038091 [GRCh38]
Chr12:49431874 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2515G>A (p.Glu839Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002701042] |
Chr12:49051168 [GRCh38]
Chr12:49444951 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11659C>T (p.Pro3887Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002917471] |
Chr12:49033046 [GRCh38]
Chr12:49426829 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.600C>T (p.Ala200=) |
single nucleotide variant |
Kabuki syndrome [RCV002871779] |
Chr12:49054051 [GRCh38]
Chr12:49447834 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5083+16G>A |
single nucleotide variant |
Kabuki syndrome [RCV002982611] |
Chr12:49044387 [GRCh38]
Chr12:49438170 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12527G>A (p.Gly4176Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003025249] |
Chr12:49032178 [GRCh38]
Chr12:49425961 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14493G>A (p.Lys4831=) |
single nucleotide variant |
Kabuki syndrome [RCV002594206]|not provided [RCV003395494] |
Chr12:49028031 [GRCh38]
Chr12:49421814 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6235-5T>C |
single nucleotide variant |
Kabuki syndrome [RCV003007448] |
Chr12:49041540 [GRCh38]
Chr12:49435323 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.579C>T (p.Tyr193=) |
single nucleotide variant |
Kabuki syndrome [RCV002791116] |
Chr12:49054072 [GRCh38]
Chr12:49447855 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6300G>C (p.Pro2100=) |
single nucleotide variant |
Kabuki syndrome [RCV002642557] |
Chr12:49041470 [GRCh38]
Chr12:49435253 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8933C>T (p.Pro2978Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003090133]|Kabuki syndrome [RCV003084520] |
Chr12:49038423 [GRCh38]
Chr12:49432206 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15928G>A (p.Gly5310Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002742463] |
Chr12:49024702 [GRCh38]
Chr12:49418485 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12799C>T (p.Pro4267Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002957830] |
Chr12:49031906 [GRCh38]
Chr12:49425689 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10507+13C>T |
single nucleotide variant |
Kabuki syndrome [RCV003058838] |
Chr12:49034397 [GRCh38]
Chr12:49428180 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7628G>T (p.Gly2543Val) |
single nucleotide variant |
Kabuki syndrome [RCV003085265] |
Chr12:49040142 [GRCh38]
Chr12:49433925 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2585C>G (p.Pro862Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002894461] |
Chr12:49051098 [GRCh38]
Chr12:49444881 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.210C>T (p.Asn70=) |
single nucleotide variant |
Kabuki syndrome [RCV002766239] |
Chr12:49054718 [GRCh38]
Chr12:49448501 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15022G>A (p.Glu5008Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002875590] |
Chr12:49026944 [GRCh38]
Chr12:49420727 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1715T>C (p.Leu572Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002871946] |
Chr12:49051968 [GRCh38]
Chr12:49445751 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12850C>G (p.Gln4284Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002643106] |
Chr12:49031855 [GRCh38]
Chr12:49425638 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7393C>G (p.Pro2465Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003025118] |
Chr12:49040377 [GRCh38]
Chr12:49434160 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5249A>C (p.Glu1750Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002740889] |
Chr12:49043938 [GRCh38]
Chr12:49437721 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12816C>T (p.Gly4272=) |
single nucleotide variant |
Kabuki syndrome [RCV002740890] |
Chr12:49031889 [GRCh38]
Chr12:49425672 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.16339-2A>C |
single nucleotide variant |
Kabuki syndrome [RCV003056219] |
Chr12:49022355 [GRCh38]
Chr12:49416138 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4449T>C (p.Ala1483=) |
single nucleotide variant |
Kabuki syndrome [RCV002712089] |
Chr12:49046394 [GRCh38]
Chr12:49440177 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11738AGC[10] (p.Gln3919_Leu3920insGlnGlnGln) |
microsatellite |
Kabuki syndrome [RCV002932775] |
Chr12:49032946..49032947 [GRCh38]
Chr12:49426729..49426730 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.343C>T (p.Leu115=) |
single nucleotide variant |
Kabuki syndrome [RCV002624687] |
Chr12:49054585 [GRCh38]
Chr12:49448368 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16272C>T (p.Ile5424=) |
single nucleotide variant |
Kabuki syndrome [RCV002766345] |
Chr12:49022656 [GRCh38]
Chr12:49416439 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4021-19A>T |
single nucleotide variant |
Kabuki syndrome [RCV002894321] |
Chr12:49048788 [GRCh38]
Chr12:49442571 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10584A>G (p.Leu3528=) |
single nucleotide variant |
Kabuki syndrome [RCV002745263] |
Chr12:49034223 [GRCh38]
Chr12:49428006 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15717G>C (p.Pro5239=) |
single nucleotide variant |
Kabuki syndrome [RCV002643171] |
Chr12:49026249 [GRCh38]
Chr12:49420032 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13139C>T (p.Pro4380Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003961296]|Kabuki syndrome [RCV002954327] |
Chr12:49031566 [GRCh38]
Chr12:49425349 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.11976G>A (p.Gln3992=) |
single nucleotide variant |
Kabuki syndrome [RCV003084577] |
Chr12:49032729 [GRCh38]
Chr12:49426512 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14252-17T>G |
single nucleotide variant |
Kabuki syndrome [RCV002872131] |
Chr12:49028975 [GRCh38]
Chr12:49422758 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5468-4A>G |
single nucleotide variant |
Kabuki syndrome [RCV002917425] |
Chr12:49043432 [GRCh38]
Chr12:49437215 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6110-6C>A |
single nucleotide variant |
Kabuki syndrome [RCV002957540] |
Chr12:49041996 [GRCh38]
Chr12:49435779 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14515+15G>A |
single nucleotide variant |
Kabuki syndrome [RCV002918540] |
Chr12:49027994 [GRCh38]
Chr12:49421777 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4682T>G (p.Val1561Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003081805] |
Chr12:49046076 [GRCh38]
Chr12:49439859 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1214A>G (p.Gln405Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003024507] |
Chr12:49052608 [GRCh38]
Chr12:49446391 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7479G>A (p.Gly2493=) |
single nucleotide variant |
Kabuki syndrome [RCV002766309]|not provided [RCV003395514] |
Chr12:49040291 [GRCh38]
Chr12:49434074 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4831C>T (p.Arg1611Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003403919]|Kabuki syndrome [RCV002786709] |
Chr12:49044876 [GRCh38]
Chr12:49438659 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12663G>C (p.Gln4221His) |
single nucleotide variant |
Kabuki syndrome [RCV002596267] |
Chr12:49032042 [GRCh38]
Chr12:49425825 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12512A>G (p.Gln4171Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002575696] |
Chr12:49032193 [GRCh38]
Chr12:49425976 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9852C>T (p.Ser3284=) |
single nucleotide variant |
Kabuki syndrome [RCV002642855] |
Chr12:49037504 [GRCh38]
Chr12:49431287 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4344T>G (p.Cys1448Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002829512] |
Chr12:49046683 [GRCh38]
Chr12:49440466 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1252C>T (p.Pro418Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002915153] |
Chr12:49052570 [GRCh38]
Chr12:49446353 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1438C>A (p.Pro480Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003042096] |
Chr12:49052245 [GRCh38]
Chr12:49446028 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14653G>A (p.Ala4885Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002623409] |
Chr12:49027313 [GRCh38]
Chr12:49421096 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4702G>A (p.Ala1568Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002602407] |
Chr12:49045959 [GRCh38]
Chr12:49439742 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12027_12028del (p.Phe4009_Ser4010insTer) |
deletion |
Kabuki syndrome [RCV003026901] |
Chr12:49032677..49032678 [GRCh38]
Chr12:49426460..49426461 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12245C>G (p.Pro4082Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002602506] |
Chr12:49032460 [GRCh38]
Chr12:49426243 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7623A>G (p.Ala2541=) |
single nucleotide variant |
Kabuki syndrome [RCV003091969] |
Chr12:49040147 [GRCh38]
Chr12:49433930 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4011G>T (p.Glu1337Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002628043] |
Chr12:49049114 [GRCh38]
Chr12:49442897 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14314A>G (p.Thr4772Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002628546] |
Chr12:49028896 [GRCh38]
Chr12:49422679 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13651T>A (p.Leu4551Met) |
single nucleotide variant |
Kabuki syndrome [RCV003027447] |
Chr12:49030913 [GRCh38]
Chr12:49424696 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2526G>C (p.Leu842=) |
single nucleotide variant |
Kabuki syndrome [RCV003065883] |
Chr12:49051157 [GRCh38]
Chr12:49444940 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14481C>T (p.Gly4827=) |
single nucleotide variant |
Kabuki syndrome [RCV003060687] |
Chr12:49028043 [GRCh38]
Chr12:49421826 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7650T>C (p.Pro2550=) |
single nucleotide variant |
Kabuki syndrome [RCV002580926] |
Chr12:49040120 [GRCh38]
Chr12:49433903 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1570del (p.Glu524fs) |
deletion |
Kabuki syndrome [RCV002601707] |
Chr12:49052113 [GRCh38]
Chr12:49445896 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.673+17T>G |
single nucleotide variant |
Kabuki syndrome [RCV002966191] |
Chr12:49053961 [GRCh38]
Chr12:49447744 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1103T>C (p.Val368Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003065877] |
Chr12:49052924 [GRCh38]
Chr12:49446707 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14776G>T (p.Ala4926Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002900117] |
Chr12:49027190 [GRCh38]
Chr12:49420973 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6698C>T (p.Thr2233Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002650670] |
Chr12:49041072 [GRCh38]
Chr12:49434855 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14076-3dup |
duplication |
Kabuki syndrome [RCV003091947] |
Chr12:49029238..49029239 [GRCh38]
Chr12:49423021..49423022 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5846_5857del (p.Gln1949_Phe1952del) |
deletion |
Kabuki syndrome [RCV002807178] |
Chr12:49042571..49042582 [GRCh38]
Chr12:49436354..49436365 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1792C>T (p.Arg598Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003973618]|Kabuki syndrome [RCV003011413]|not provided [RCV003134584] |
Chr12:49051891 [GRCh38]
Chr12:49445674 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.16218C>A (p.Ile5406=) |
single nucleotide variant |
Kabuki syndrome [RCV002938418] |
Chr12:49022710 [GRCh38]
Chr12:49416493 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3743T>G (p.Val1248Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003048753] |
Chr12:49049845 [GRCh38]
Chr12:49443628 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4194G>A (p.Ser1398=) |
single nucleotide variant |
Kabuki syndrome [RCV002721271] |
Chr12:49048007 [GRCh38]
Chr12:49441790 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6268G>A (p.Val2090Met) |
single nucleotide variant |
Kabuki syndrome [RCV002676673] |
Chr12:49041502 [GRCh38]
Chr12:49435285 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11394C>A (p.Pro3798=) |
single nucleotide variant |
Kabuki syndrome [RCV002650815] |
Chr12:49033311 [GRCh38]
Chr12:49427094 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9663C>T (p.Thr3221=) |
single nucleotide variant |
Kabuki syndrome [RCV003062897] |
Chr12:49037693 [GRCh38]
Chr12:49431476 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14668A>G (p.Thr4890Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002967270] |
Chr12:49027298 [GRCh38]
Chr12:49421081 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14793G>T (p.Glu4931Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002631965] |
Chr12:49027173 [GRCh38]
Chr12:49420956 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7971G>A (p.Ala2657=) |
single nucleotide variant |
Kabuki syndrome [RCV002633045] |
Chr12:49039799 [GRCh38]
Chr12:49433582 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5971G>C (p.Gly1991Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002966807] |
Chr12:49042227 [GRCh38]
Chr12:49436010 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4639G>A (p.Ala1547Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002602864] |
Chr12:49046119 [GRCh38]
Chr12:49439902 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12644G>A (p.Ser4215Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002602869] |
Chr12:49032061 [GRCh38]
Chr12:49425844 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1306G>A (p.Glu436Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003031117] |
Chr12:49052377 [GRCh38]
Chr12:49446160 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15381G>A (p.Lys5127=) |
single nucleotide variant |
Kabuki syndrome [RCV002602687] |
Chr12:49026585 [GRCh38]
Chr12:49420368 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10979G>C (p.Gly3660Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002633057] |
Chr12:49033726 [GRCh38]
Chr12:49427509 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7060C>G (p.Pro2354Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003090244] |
Chr12:49040710 [GRCh38]
Chr12:49434493 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3370C>T (p.Pro1124Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003091095]|not provided [RCV003491231] |
Chr12:49050218 [GRCh38]
Chr12:49444001 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9340G>C (p.Val3114Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002632104] |
Chr12:49038016 [GRCh38]
Chr12:49431799 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.847G>C (p.Gly283Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002721091] |
Chr12:49053314 [GRCh38]
Chr12:49447097 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11519T>A (p.Leu3840Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002940464] |
Chr12:49033186 [GRCh38]
Chr12:49426969 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2102C>T (p.Pro701Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003065199] |
Chr12:49051581 [GRCh38]
Chr12:49445364 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14383-18C>G |
single nucleotide variant |
Kabuki syndrome [RCV002582158] |
Chr12:49028159 [GRCh38]
Chr12:49421942 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16440C>T (p.Asn5480=) |
single nucleotide variant |
Kabuki syndrome [RCV002582159] |
Chr12:49022124 [GRCh38]
Chr12:49415907 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3337G>C (p.Asp1113His) |
single nucleotide variant |
Kabuki syndrome [RCV002942065] |
Chr12:49050251 [GRCh38]
Chr12:49444034 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3888C>T (p.Ala1296=) |
single nucleotide variant |
Kabuki syndrome [RCV002631387] |
Chr12:49049700 [GRCh38]
Chr12:49443483 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11282C>T (p.Pro3761Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002811955] |
Chr12:49033423 [GRCh38]
Chr12:49427206 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14720C>T (p.Ser4907Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003063129] |
Chr12:49027246 [GRCh38]
Chr12:49421029 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1873C>T (p.Arg625Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002632506] |
Chr12:49051810 [GRCh38]
Chr12:49445593 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8778A>G (p.Val2926=) |
single nucleotide variant |
Kabuki syndrome [RCV003066066] |
Chr12:49038578 [GRCh38]
Chr12:49432361 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4895C>T (p.Ser1632Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003090375] |
Chr12:49044812 [GRCh38]
Chr12:49438595 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11823ACA[1] (p.Gln3947del) |
microsatellite |
Kabuki syndrome [RCV003065134] |
Chr12:49032877..49032879 [GRCh38]
Chr12:49426660..49426662 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8805A>C (p.Ser2935=) |
single nucleotide variant |
Kabuki syndrome [RCV002941906] |
Chr12:49038551 [GRCh38]
Chr12:49432334 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1689T>C (p.Thr563=) |
single nucleotide variant |
Kabuki syndrome [RCV003060437] |
Chr12:49051994 [GRCh38]
Chr12:49445777 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6235-12C>T |
single nucleotide variant |
Kabuki syndrome [RCV002806880] |
Chr12:49041547 [GRCh38]
Chr12:49435330 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6696C>T (p.Gly2232=) |
single nucleotide variant |
Kabuki syndrome [RCV003089642]|not provided [RCV003456546] |
Chr12:49041074 [GRCh38]
Chr12:49434857 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.15336C>T (p.Val5112=) |
single nucleotide variant |
Kabuki syndrome [RCV002629734] |
Chr12:49026630 [GRCh38]
Chr12:49420413 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6721C>T (p.Pro2241Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002812044] |
Chr12:49041049 [GRCh38]
Chr12:49434832 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14554A>G (p.Thr4852Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002630823] |
Chr12:49027892 [GRCh38]
Chr12:49421675 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16339-22_16339-20del |
microsatellite |
Kabuki syndrome [RCV003091532] |
Chr12:49022373..49022375 [GRCh38]
Chr12:49416156..49416158 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6C>G (p.Asp2Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002720703] |
Chr12:49055319 [GRCh38]
Chr12:49449102 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16053-4C>G |
single nucleotide variant |
Kabuki syndrome [RCV003089712] |
Chr12:49022879 [GRCh38]
Chr12:49416662 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12679A>G (p.Met4227Val) |
single nucleotide variant |
Kabuki syndrome [RCV002601412] |
Chr12:49032026 [GRCh38]
Chr12:49425809 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2731C>T (p.Leu911=) |
single nucleotide variant |
Kabuki syndrome [RCV002599692] |
Chr12:49050952 [GRCh38]
Chr12:49444735 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3508C>T (p.Pro1170Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002899620] |
Chr12:49050080 [GRCh38]
Chr12:49443863 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12097G>A (p.Val4033Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003090350] |
Chr12:49032608 [GRCh38]
Chr12:49426391 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4629G>A (p.Val1543=) |
single nucleotide variant |
Kabuki syndrome [RCV003065147] |
Chr12:49046129 [GRCh38]
Chr12:49439912 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14383-8C>T |
single nucleotide variant |
Kabuki syndrome [RCV003065154] |
Chr12:49028149 [GRCh38]
Chr12:49421932 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5867+15G>A |
single nucleotide variant |
Kabuki syndrome [RCV002630838] |
Chr12:49042546 [GRCh38]
Chr12:49436329 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2747C>T (p.Pro916Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002988679] |
Chr12:49050936 [GRCh38]
Chr12:49444719 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14954T>C (p.Val4985Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002833444] |
Chr12:49027012 [GRCh38]
Chr12:49420795 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4849C>T (p.Arg1617Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002809121] |
Chr12:49044858 [GRCh38]
Chr12:49438641 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3388G>A (p.Ala1130Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002581875] |
Chr12:49050200 [GRCh38]
Chr12:49443983 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11894A>G (p.Gln3965Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002676211] |
Chr12:49032811 [GRCh38]
Chr12:49426594 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3925C>T (p.Pro1309Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003048988] |
Chr12:49049200 [GRCh38]
Chr12:49442983 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.554G>A (p.Arg185His) |
single nucleotide variant |
Kabuki syndrome [RCV002628413] |
Chr12:49054097 [GRCh38]
Chr12:49447880 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9427C>T (p.Pro3143Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002833093] |
Chr12:49037929 [GRCh38]
Chr12:49431712 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5867+11C>T |
single nucleotide variant |
Kabuki syndrome [RCV002922677] |
Chr12:49042550 [GRCh38]
Chr12:49436333 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.114G>A (p.Val38=) |
single nucleotide variant |
Kabuki syndrome [RCV002577390] |
Chr12:49054962 [GRCh38]
Chr12:49448745 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.33A>T (p.Lys11Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002715222] |
Chr12:49055292 [GRCh38]
Chr12:49449075 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10944G>C (p.Pro3648=) |
single nucleotide variant |
Kabuki syndrome [RCV003086187] |
Chr12:49033761 [GRCh38]
Chr12:49427544 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7239C>G (p.Ala2413=) |
single nucleotide variant |
KMT2D-related condition [RCV003898547]|Kabuki syndrome [RCV002806260] |
Chr12:49040531 [GRCh38]
Chr12:49434314 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11733A>G (p.Gln3911=) |
single nucleotide variant |
Kabuki syndrome [RCV002646148] |
Chr12:49032972 [GRCh38]
Chr12:49426755 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11559C>T (p.Val3853=) |
single nucleotide variant |
Kabuki syndrome [RCV002715756] |
Chr12:49033146 [GRCh38]
Chr12:49426929 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11568GCA[4] (p.Gln3863del) |
microsatellite |
KMT2D-related condition [RCV003916519]|Kabuki syndrome [RCV002716183] |
Chr12:49033123..49033125 [GRCh38]
Chr12:49426906..49426908 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6423_6439del (p.Phe2142fs) |
deletion |
Kabuki syndrome [RCV003028468] |
Chr12:49041331..49041347 [GRCh38]
Chr12:49435114..49435130 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2530C>T (p.Pro844Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002933825] |
Chr12:49051153 [GRCh38]
Chr12:49444936 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5823G>A (p.Met1941Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002770689] |
Chr12:49042605 [GRCh38]
Chr12:49436388 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8046+13C>G |
single nucleotide variant |
Kabuki syndrome [RCV003087612] |
Chr12:49039711 [GRCh38]
Chr12:49433494 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12678C>G (p.Leu4226=) |
single nucleotide variant |
Kabuki syndrome [RCV002715771] |
Chr12:49032027 [GRCh38]
Chr12:49425810 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5357G>A (p.Arg1786His) |
single nucleotide variant |
Kabuki syndrome [RCV002921994] |
Chr12:49043745 [GRCh38]
Chr12:49437528 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14353A>G (p.Met4785Val) |
single nucleotide variant |
Kabuki syndrome [RCV002833068] |
Chr12:49028857 [GRCh38]
Chr12:49422640 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5533+6G>C |
single nucleotide variant |
Kabuki syndrome [RCV003027618] |
Chr12:49043357 [GRCh38]
Chr12:49437140 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3696G>A (p.Pro1232=) |
single nucleotide variant |
Kabuki syndrome [RCV002899719] |
Chr12:49049892 [GRCh38]
Chr12:49443675 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1995G>A (p.Pro665=) |
single nucleotide variant |
KMT2D-related condition [RCV003963704]|Kabuki syndrome [RCV002628762] |
Chr12:49051688 [GRCh38]
Chr12:49445471 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13586G>A (p.Ser4529Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002922292] |
Chr12:49030978 [GRCh38]
Chr12:49424761 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14748G>A (p.Pro4916=) |
single nucleotide variant |
Kabuki syndrome [RCV002599880] |
Chr12:49027218 [GRCh38]
Chr12:49421001 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1793G>C (p.Arg598Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003029447] |
Chr12:49051890 [GRCh38]
Chr12:49445673 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14810C>T (p.Pro4937Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003046609] |
Chr12:49027156 [GRCh38]
Chr12:49420939 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9547G>A (p.Ala3183Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003060353] |
Chr12:49037809 [GRCh38]
Chr12:49431592 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4583+13C>T |
single nucleotide variant |
Kabuki syndrome [RCV002895853] |
Chr12:49046247 [GRCh38]
Chr12:49440030 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8334A>G (p.Pro2778=) |
single nucleotide variant |
Kabuki syndrome [RCV002856715] |
Chr12:49039254 [GRCh38]
Chr12:49433037 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2195C>T (p.Pro732Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002629190] |
Chr12:49051488 [GRCh38]
Chr12:49445271 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15787G>T (p.Val5263Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002988370] |
Chr12:49024944 [GRCh38]
Chr12:49418727 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9679G>A (p.Ala3227Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002715067] |
Chr12:49037677 [GRCh38]
Chr12:49431460 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16380G>T (p.Val5460=) |
single nucleotide variant |
Kabuki syndrome [RCV002857143] |
Chr12:49022312 [GRCh38]
Chr12:49416095 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8897G>A (p.Arg2966Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002629469] |
Chr12:49038459 [GRCh38]
Chr12:49432242 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2091_2093del (p.Thr698del) |
deletion |
Kabuki syndrome [RCV002937992] |
Chr12:49051590..49051592 [GRCh38]
Chr12:49445373..49445375 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8850C>T (p.Pro2950=) |
single nucleotide variant |
Kabuki syndrome [RCV002577582] |
Chr12:49038506 [GRCh38]
Chr12:49432289 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14956C>T (p.Arg4986Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002646953] |
Chr12:49027010 [GRCh38]
Chr12:49420793 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6483C>T (p.Leu2161=) |
single nucleotide variant |
KMT2D-related condition [RCV003898886]|Kabuki syndrome [RCV002628804] |
Chr12:49041287 [GRCh38]
Chr12:49435070 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.14497G>C (p.Gly4833Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003898805]|Kabuki syndrome [RCV003088715] |
Chr12:49028027 [GRCh38]
Chr12:49421810 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13530+14G>A |
single nucleotide variant |
Kabuki syndrome [RCV002627573] |
Chr12:49031161 [GRCh38]
Chr12:49424944 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13441G>A (p.Glu4481Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003060686] |
Chr12:49031264 [GRCh38]
Chr12:49425047 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10065T>A (p.His3355Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002715184] |
Chr12:49037291 [GRCh38]
Chr12:49431074 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14656C>T (p.Pro4886Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002834922] |
Chr12:49027310 [GRCh38]
Chr12:49421093 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9346C>T (p.Pro3116Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002937665] |
Chr12:49038010 [GRCh38]
Chr12:49431793 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13723C>T (p.Leu4575Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002627816] |
Chr12:49030717 [GRCh38]
Chr12:49424500 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.666A>G (p.Ala222=) |
single nucleotide variant |
Kabuki syndrome [RCV002770787] |
Chr12:49053985 [GRCh38]
Chr12:49447768 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12008C>T (p.Ala4003Val) |
single nucleotide variant |
Kabuki syndrome [RCV002671398] |
Chr12:49032697 [GRCh38]
Chr12:49426480 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.781A>G (p.Thr261Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002629517] |
Chr12:49053534 [GRCh38]
Chr12:49447317 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12486G>T (p.Arg4162=) |
single nucleotide variant |
Kabuki syndrome [RCV003063069] |
Chr12:49032219 [GRCh38]
Chr12:49426002 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13944G>A (p.Leu4648=) |
single nucleotide variant |
Kabuki syndrome [RCV003043720] |
Chr12:49030335 [GRCh38]
Chr12:49424118 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1876C>A (p.Leu626Met) |
single nucleotide variant |
Kabuki syndrome [RCV003027908] |
Chr12:49051807 [GRCh38]
Chr12:49445590 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14000-5C>T |
single nucleotide variant |
Kabuki syndrome [RCV002647935] |
Chr12:49029481 [GRCh38]
Chr12:49423264 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4454del (p.Pro1485fs) |
deletion |
Kabuki syndrome [RCV003062513] |
Chr12:49046389 [GRCh38]
Chr12:49440172 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10307A>G (p.Lys3436Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003062843] |
Chr12:49034860 [GRCh38]
Chr12:49428643 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10294T>C (p.Leu3432=) |
single nucleotide variant |
Kabuki syndrome [RCV003061100]|not provided [RCV003883869] |
Chr12:49034873 [GRCh38]
Chr12:49428656 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13377G>A (p.Gly4459=) |
single nucleotide variant |
Kabuki syndrome [RCV003086056] |
Chr12:49031328 [GRCh38]
Chr12:49425111 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12741G>C (p.Gly4247=) |
single nucleotide variant |
Kabuki syndrome [RCV003044498] |
Chr12:49031964 [GRCh38]
Chr12:49425747 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6724G>T (p.Asp2242Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003027932] |
Chr12:49041046 [GRCh38]
Chr12:49434829 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5922G>T (p.Thr1974=) |
single nucleotide variant |
Kabuki syndrome [RCV002834510] |
Chr12:49042276 [GRCh38]
Chr12:49436059 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.444C>T (p.Gly148=) |
single nucleotide variant |
KMT2D-related condition [RCV003943737]|Kabuki syndrome [RCV003060890] |
Chr12:49054373 [GRCh38]
Chr12:49448156 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.916C>G (p.Pro306Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002628886] |
Chr12:49053245 [GRCh38]
Chr12:49447028 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8994T>C (p.Asp2998=) |
single nucleotide variant |
Kabuki syndrome [RCV002578305] |
Chr12:49038362 [GRCh38]
Chr12:49432145 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2861T>G (p.Leu954Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002988369] |
Chr12:49050727 [GRCh38]
Chr12:49444510 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14016G>C (p.Lys4672Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002938390] |
Chr12:49029460 [GRCh38]
Chr12:49423243 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5508C>T (p.Gly1836=) |
single nucleotide variant |
Kabuki syndrome [RCV002900232] |
Chr12:49043388 [GRCh38]
Chr12:49437171 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10956C>T (p.Ala3652=) |
single nucleotide variant |
Kabuki syndrome [RCV002988400] |
Chr12:49033749 [GRCh38]
Chr12:49427532 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3511G>A (p.Glu1171Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003009098]|not provided [RCV003883858] |
Chr12:49050077 [GRCh38]
Chr12:49443860 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3938G>A (p.Arg1313Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002961913] |
Chr12:49049187 [GRCh38]
Chr12:49442970 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5468-10T>C |
single nucleotide variant |
Kabuki syndrome [RCV002598950] |
Chr12:49043438 [GRCh38]
Chr12:49437221 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1605T>C (p.Pro535=) |
single nucleotide variant |
Kabuki syndrome [RCV002833716] |
Chr12:49052078 [GRCh38]
Chr12:49445861 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5872C>T (p.Arg1958Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002579096] |
Chr12:49042326 [GRCh38]
Chr12:49436109 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14465G>T (p.Ser4822Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002896564] |
Chr12:49028059 [GRCh38]
Chr12:49421842 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5121C>A (p.His1707Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002670973] |
Chr12:49044267 [GRCh38]
Chr12:49438050 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10607G>A (p.Arg3536His) |
single nucleotide variant |
Kabuki syndrome [RCV003028227] |
Chr12:49034200 [GRCh38]
Chr12:49427983 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.49+15T>C |
single nucleotide variant |
Kabuki syndrome [RCV003047807] |
Chr12:49055261 [GRCh38]
Chr12:49449044 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6533G>A (p.Gly2178Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003009135] |
Chr12:49041237 [GRCh38]
Chr12:49435020 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5523C>G (p.Ala1841=) |
single nucleotide variant |
Kabuki syndrome [RCV002630240]|not provided [RCV003395496] |
Chr12:49043373 [GRCh38]
Chr12:49437156 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1097C>A (p.Thr366Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002630244] |
Chr12:49052930 [GRCh38]
Chr12:49446713 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2792C>T (p.Pro931Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002631500] |
Chr12:49050891 [GRCh38]
Chr12:49444674 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10517A>C (p.Asp3506Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002806074] |
Chr12:49034290 [GRCh38]
Chr12:49428073 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3511G>T (p.Glu1171Ter) |
single nucleotide variant |
Kabuki syndrome [RCV003062514] |
Chr12:49050077 [GRCh38]
Chr12:49443860 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2259C>T (p.Ser753=) |
single nucleotide variant |
Kabuki syndrome [RCV003062985] |
Chr12:49051424 [GRCh38]
Chr12:49445207 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.525C>T (p.Cys175=) |
single nucleotide variant |
Kabuki syndrome [RCV002938717] |
Chr12:49054126 [GRCh38]
Chr12:49447909 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3150C>T (p.Ser1050=) |
single nucleotide variant |
Kabuki syndrome [RCV003087767]|not provided [RCV003395593] |
Chr12:49050438 [GRCh38]
Chr12:49444221 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.443G>A (p.Gly148Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002600619] |
Chr12:49054374 [GRCh38]
Chr12:49448157 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.9153A>C (p.Ala3051=) |
single nucleotide variant |
Kabuki syndrome [RCV002631037] |
Chr12:49038203 [GRCh38]
Chr12:49431986 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8314C>T (p.Leu2772Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002597561] |
Chr12:49039274 [GRCh38]
Chr12:49433057 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.511C>T (p.Arg171Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002627790] |
Chr12:49054140 [GRCh38]
Chr12:49447923 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15435G>A (p.Glu5145=) |
single nucleotide variant |
Kabuki syndrome [RCV003009195] |
Chr12:49026531 [GRCh38]
Chr12:49420314 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13516C>T (p.Pro4506Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002598499] |
Chr12:49031189 [GRCh38]
Chr12:49424972 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12337G>A (p.Gly4113Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003063076] |
Chr12:49032368 [GRCh38]
Chr12:49426151 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12200C>T (p.Pro4067Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003064108] |
Chr12:49032505 [GRCh38]
Chr12:49426288 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15681C>T (p.Cys5227=) |
single nucleotide variant |
Kabuki syndrome [RCV002646713] |
Chr12:49026285 [GRCh38]
Chr12:49420068 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5867+15G>C |
single nucleotide variant |
Kabuki syndrome [RCV003028757] |
Chr12:49042546 [GRCh38]
Chr12:49436329 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11754G>T (p.Gln3918His) |
single nucleotide variant |
Kabuki syndrome [RCV002898895] |
Chr12:49032951 [GRCh38]
Chr12:49426734 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2844A>G (p.Pro948=) |
single nucleotide variant |
Kabuki syndrome [RCV002900655] |
Chr12:49050744 [GRCh38]
Chr12:49444527 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10152C>T (p.Thr3384=) |
single nucleotide variant |
Kabuki syndrome [RCV002922208] |
Chr12:49037204 [GRCh38]
Chr12:49430987 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2778G>A (p.Ser926=) |
single nucleotide variant |
Kabuki syndrome [RCV002577887] |
Chr12:49050905 [GRCh38]
Chr12:49444688 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14145G>T (p.Leu4715Phe) |
single nucleotide variant |
Kabuki syndrome [RCV002937371] |
Chr12:49029167 [GRCh38]
Chr12:49422950 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6372T>G (p.Ile2124Met) |
single nucleotide variant |
Kabuki syndrome [RCV003031028] |
Chr12:49041398 [GRCh38]
Chr12:49435181 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13896A>G (p.Pro4632=) |
single nucleotide variant |
Kabuki syndrome [RCV002716351] |
Chr12:49030383 [GRCh38]
Chr12:49424166 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9024G>A (p.Glu3008=) |
single nucleotide variant |
Kabuki syndrome [RCV002938312] |
Chr12:49038332 [GRCh38]
Chr12:49432115 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7318G>A (p.Val2440Ile) |
single nucleotide variant |
Kabuki syndrome [RCV002631615] |
Chr12:49040452 [GRCh38]
Chr12:49434235 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9780G>A (p.Leu3260=) |
single nucleotide variant |
Kabuki syndrome [RCV002746142] |
Chr12:49037576 [GRCh38]
Chr12:49431359 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7044G>T (p.Arg2348Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002896814]|KMT2D-related condition [RCV003928911] |
Chr12:49040726 [GRCh38]
Chr12:49434509 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4177C>T (p.His1393Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002898535]|not provided [RCV003395652] |
Chr12:49048024 [GRCh38]
Chr12:49441807 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7617T>C (p.Pro2539=) |
single nucleotide variant |
Kabuki syndrome [RCV002650515] |
Chr12:49040153 [GRCh38]
Chr12:49433936 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3583A>G (p.Thr1195Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002811709] |
Chr12:49050005 [GRCh38]
Chr12:49443788 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7895C>A (p.Ala2632Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002898564] |
Chr12:49039875 [GRCh38]
Chr12:49433658 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1553C>T (p.Ser518Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002899788] |
Chr12:49052130 [GRCh38]
Chr12:49445913 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7028C>A (p.Pro2343Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003089685]|not provided [RCV003130831] |
Chr12:49040742 [GRCh38]
Chr12:49434525 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2409A>G (p.Glu803=) |
single nucleotide variant |
Kabuki syndrome [RCV002650537] |
Chr12:49051274 [GRCh38]
Chr12:49445057 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10075G>T (p.Gly3359Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002791883] |
Chr12:49037281 [GRCh38]
Chr12:49431064 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14652C>T (p.Pro4884=) |
single nucleotide variant |
Kabuki syndrome [RCV002877394] |
Chr12:49027314 [GRCh38]
Chr12:49421097 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1239A>G (p.Gln413=) |
single nucleotide variant |
Kabuki syndrome [RCV002649433] |
Chr12:49052583 [GRCh38]
Chr12:49446366 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.231C>T (p.His77=) |
single nucleotide variant |
Kabuki syndrome [RCV002899868] |
Chr12:49054697 [GRCh38]
Chr12:49448480 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12190G>A (p.Glu4064Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002939832] |
Chr12:49032515 [GRCh38]
Chr12:49426298 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13034A>T (p.Lys4345Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003045287] |
Chr12:49031671 [GRCh38]
Chr12:49425454 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12597A>G (p.Ala4199=) |
single nucleotide variant |
Kabuki syndrome [RCV002629289] |
Chr12:49032108 [GRCh38]
Chr12:49425891 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6066C>T (p.Leu2022=) |
single nucleotide variant |
KMT2D-related condition [RCV003898734]|Kabuki syndrome [RCV003064839] |
Chr12:49042132 [GRCh38]
Chr12:49435915 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.11250G>A (p.Gln3750=) |
single nucleotide variant |
Kabuki syndrome [RCV002577985] |
Chr12:49033455 [GRCh38]
Chr12:49427238 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.971G>A (p.Arg324Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003936591]|Kabuki syndrome [RCV002599583] |
Chr12:49053056 [GRCh38]
Chr12:49446839 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9412A>T (p.Thr3138Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002630624] |
Chr12:49037944 [GRCh38]
Chr12:49431727 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6476T>A (p.Leu2159His) |
single nucleotide variant |
Kabuki syndrome [RCV002746506] |
Chr12:49041294 [GRCh38]
Chr12:49435077 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15559G>A (p.Ala5187Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002598913] |
Chr12:49026407 [GRCh38]
Chr12:49420190 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5780A>G (p.Gln1927Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002718324] |
Chr12:49042743 [GRCh38]
Chr12:49436526 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.400+15T>G |
single nucleotide variant |
Kabuki syndrome [RCV002720053] |
Chr12:49054513 [GRCh38]
Chr12:49448296 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11844_11879dup (p.Gln3959_Gln3960insHisGlnGlnGlnGlnGlnGlnLeuGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV002651289] |
Chr12:49032825..49032826 [GRCh38]
Chr12:49426608..49426609 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2130A>G (p.Pro710=) |
single nucleotide variant |
Kabuki syndrome [RCV003091828] |
Chr12:49051553 [GRCh38]
Chr12:49445336 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3907-19G>T |
single nucleotide variant |
Kabuki syndrome [RCV002647109] |
Chr12:49049237 [GRCh38]
Chr12:49443020 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2234C>A (p.Pro745His) |
single nucleotide variant |
Kabuki syndrome [RCV002671273] |
Chr12:49051449 [GRCh38]
Chr12:49445232 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7314A>G (p.Ser2438=) |
single nucleotide variant |
Kabuki syndrome [RCV002834590] |
Chr12:49040456 [GRCh38]
Chr12:49434239 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14288T>C (p.Leu4763Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002580171] |
Chr12:49028922 [GRCh38]
Chr12:49422705 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.246A>G (p.Leu82=) |
single nucleotide variant |
Kabuki syndrome [RCV003090836] |
Chr12:49054682 [GRCh38]
Chr12:49448465 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7573G>T (p.Gly2525Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003026942] |
Chr12:49040197 [GRCh38]
Chr12:49433980 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.4664C>T (p.Ser1555Phe) |
single nucleotide variant |
KMT2D-related condition [RCV003898712]|Kabuki syndrome [RCV003062512] |
Chr12:49046094 [GRCh38]
Chr12:49439877 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1112+1G>C |
single nucleotide variant |
Kabuki syndrome [RCV003046512] |
Chr12:49052914 [GRCh38]
Chr12:49446697 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14251+17A>G |
single nucleotide variant |
Kabuki syndrome [RCV003048739] |
Chr12:49029044 [GRCh38]
Chr12:49422827 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10803_10820dup (p.Gln3612_His3613insGlnGlnGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV002895911] |
Chr12:49033884..49033885 [GRCh38]
Chr12:49427667..49427668 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9618A>G (p.Gly3206=) |
single nucleotide variant |
Kabuki syndrome [RCV002598691] |
Chr12:49037738 [GRCh38]
Chr12:49431521 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16057C>T (p.His5353Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002936042] |
Chr12:49022871 [GRCh38]
Chr12:49416654 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3587C>T (p.Pro1196Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002808392] |
Chr12:49050001 [GRCh38]
Chr12:49443784 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1174T>C (p.Cys392Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002600611] |
Chr12:49052648 [GRCh38]
Chr12:49446431 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3394G>A (p.Gly1132Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003047827] |
Chr12:49050194 [GRCh38]
Chr12:49443977 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6281C>G (p.Ala2094Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003049168] |
Chr12:49041489 [GRCh38]
Chr12:49435272 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5750_5751delinsAA (p.Ser1917Lys) |
indel |
Kabuki syndrome [RCV002629440] |
Chr12:49042772..49042773 [GRCh38]
Chr12:49436555..49436556 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6521A>G (p.Gln2174Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003404044]|Kabuki syndrome [RCV003063021] |
Chr12:49041249 [GRCh38]
Chr12:49435032 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6895T>A (p.Tyr2299Asn) |
single nucleotide variant |
Kabuki syndrome [RCV002938621] |
Chr12:49040875 [GRCh38]
Chr12:49434658 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10551C>T (p.Thr3517=) |
single nucleotide variant |
KMT2D-related condition [RCV003898885]|Kabuki syndrome [RCV002650863] |
Chr12:49034256 [GRCh38]
Chr12:49428039 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8916G>A (p.Glu2972=) |
single nucleotide variant |
Kabuki syndrome [RCV003064834] |
Chr12:49038440 [GRCh38]
Chr12:49432223 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14865C>T (p.Ser4955=) |
single nucleotide variant |
Kabuki syndrome [RCV002632857] |
Chr12:49027101 [GRCh38]
Chr12:49420884 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.173G>T (p.Cys58Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003047897] |
Chr12:49054903 [GRCh38]
Chr12:49448686 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7472C>A (p.Ala2491Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002811816] |
Chr12:49040298 [GRCh38]
Chr12:49434081 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5468-19G>C |
single nucleotide variant |
Kabuki syndrome [RCV003091010] |
Chr12:49043447 [GRCh38]
Chr12:49437230 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13221G>A (p.Val4407=) |
single nucleotide variant |
Kabuki syndrome [RCV003060283] |
Chr12:49031484 [GRCh38]
Chr12:49425267 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6904C>T (p.Pro2302Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002630364] |
Chr12:49040866 [GRCh38]
Chr12:49434649 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10666T>C (p.Phe3556Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002579893] |
Chr12:49034141 [GRCh38]
Chr12:49427924 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14506G>A (p.Glu4836Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002720223] |
Chr12:49028018 [GRCh38]
Chr12:49421801 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16251A>G (p.Leu5417=) |
single nucleotide variant |
Kabuki syndrome [RCV002602292]|not provided [RCV003395605] |
Chr12:49022677 [GRCh38]
Chr12:49416460 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9730G>A (p.Glu3244Lys) |
single nucleotide variant |
Kabuki syndrome [RCV002810599] |
Chr12:49037626 [GRCh38]
Chr12:49431409 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1182G>A (p.Gly394=) |
single nucleotide variant |
Kabuki syndrome [RCV003026643] |
Chr12:49052640 [GRCh38]
Chr12:49446423 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8669C>G (p.Pro2890Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002963298] |
Chr12:49038687 [GRCh38]
Chr12:49432470 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12731A>G (p.Gln4244Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003061508] |
Chr12:49031974 [GRCh38]
Chr12:49425757 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12066G>A (p.Thr4022=) |
single nucleotide variant |
Kabuki syndrome [RCV002671117] |
Chr12:49032639 [GRCh38]
Chr12:49426422 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11223_11237del (p.Gln3741_Gln3745del) |
deletion |
Kabuki syndrome [RCV002580757] |
Chr12:49033468..49033482 [GRCh38]
Chr12:49427251..49427265 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2478C>G (p.Pro826=) |
single nucleotide variant |
Kabuki syndrome [RCV002967153] |
Chr12:49051205 [GRCh38]
Chr12:49444988 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14185C>A (p.Arg4729=) |
single nucleotide variant |
Kabuki syndrome [RCV002602688] |
Chr12:49029127 [GRCh38]
Chr12:49422910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4977C>G (p.His1659Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002721057] |
Chr12:49044509 [GRCh38]
Chr12:49438292 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11353C>T (p.Leu3785Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003028414] |
Chr12:49033352 [GRCh38]
Chr12:49427135 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6109+7G>C |
single nucleotide variant |
Kabuki syndrome [RCV002898982] |
Chr12:49042082 [GRCh38]
Chr12:49435865 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11459C>A (p.Pro3820His) |
single nucleotide variant |
Kabuki syndrome [RCV003026305] |
Chr12:49033246 [GRCh38]
Chr12:49427029 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6110-18A>G |
single nucleotide variant |
Kabuki syndrome [RCV002628599] |
Chr12:49042008 [GRCh38]
Chr12:49435791 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10482G>T (p.Pro3494=) |
single nucleotide variant |
Kabuki syndrome [RCV002715736] |
Chr12:49034435 [GRCh38]
Chr12:49428218 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15404T>C (p.Met5135Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003061945] |
Chr12:49026562 [GRCh38]
Chr12:49420345 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2335C>G (p.Leu779Val) |
single nucleotide variant |
Kabuki syndrome [RCV002599155] |
Chr12:49051348 [GRCh38]
Chr12:49445131 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15251T>G (p.Leu5084Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002675792] |
Chr12:49026715 [GRCh38]
Chr12:49420498 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7003dup (p.Ala2335fs) |
duplication |
Kabuki syndrome [RCV002791618] |
Chr12:49040766..49040767 [GRCh38]
Chr12:49434549..49434550 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6172G>C (p.Ala2058Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003043731] |
Chr12:49041928 [GRCh38]
Chr12:49435711 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4770G>A (p.Val1590=) |
single nucleotide variant |
Kabuki syndrome [RCV003043793] |
Chr12:49044937 [GRCh38]
Chr12:49438720 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11382_11390dup (p.Gly3800_Met3801insProGlnGly) |
duplication |
Kabuki syndrome [RCV002876949] |
Chr12:49033314..49033315 [GRCh38]
Chr12:49427097..49427098 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9415C>T (p.Pro3139Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002770298]|not provided [RCV003134493] |
Chr12:49037941 [GRCh38]
Chr12:49431724 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.16521+11G>A |
single nucleotide variant |
Kabuki syndrome [RCV002599561] |
Chr12:49022032 [GRCh38]
Chr12:49415815 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3305C>G (p.Ser1102Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002650643] |
Chr12:49050283 [GRCh38]
Chr12:49444066 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13361C>T (p.Pro4454Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002855722] |
Chr12:49031344 [GRCh38]
Chr12:49425127 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8154C>T (p.Gly2718=) |
single nucleotide variant |
Kabuki syndrome [RCV003066547] |
Chr12:49039510 [GRCh38]
Chr12:49433293 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9962G>A (p.Arg3321Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003067795] |
Chr12:49037394 [GRCh38]
Chr12:49431177 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9324A>G (p.Glu3108=) |
single nucleotide variant |
Kabuki syndrome [RCV002942863] |
Chr12:49038032 [GRCh38]
Chr12:49431815 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7853C>T (p.Pro2618Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002654817] |
Chr12:49039917 [GRCh38]
Chr12:49433700 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9408T>C (p.Ile3136=) |
single nucleotide variant |
Kabuki syndrome [RCV003093334] |
Chr12:49037948 [GRCh38]
Chr12:49431731 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5504G>A (p.Arg1835His) |
single nucleotide variant |
Inborn genetic diseases [RCV002722752]|Kabuki syndrome [RCV003588851] |
Chr12:49043392 [GRCh38]
Chr12:49437175 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2332T>C (p.Cys778Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002725767] |
Chr12:49051351 [GRCh38]
Chr12:49445134 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4377C>A (p.Pro1459=) |
single nucleotide variant |
Kabuki syndrome [RCV002725769] |
Chr12:49046650 [GRCh38]
Chr12:49440433 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5189-4A>G |
single nucleotide variant |
Kabuki syndrome [RCV002654017] |
Chr12:49044002 [GRCh38]
Chr12:49437785 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13515C>T (p.Thr4505=) |
single nucleotide variant |
Kabuki syndrome [RCV002634722] |
Chr12:49031190 [GRCh38]
Chr12:49424973 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6425T>C (p.Phe2142Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002603400] |
Chr12:49041345 [GRCh38]
Chr12:49435128 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6275A>G (p.Asp2092Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003069853] |
Chr12:49041495 [GRCh38]
Chr12:49435278 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1952C>T (p.Ser651Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003410072]|Kabuki syndrome [RCV003069854] |
Chr12:49051731 [GRCh38]
Chr12:49445514 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5130G>A (p.Thr1710=) |
single nucleotide variant |
Kabuki syndrome [RCV003069891] |
Chr12:49044258 [GRCh38]
Chr12:49438041 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.194G>A (p.Arg65His) |
single nucleotide variant |
Kabuki syndrome [RCV002633360] |
Chr12:49054734 [GRCh38]
Chr12:49448517 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1816T>C (p.Ser606Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002721815] |
Chr12:49051867 [GRCh38]
Chr12:49445650 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14252-16C>T |
single nucleotide variant |
Kabuki syndrome [RCV002653523] |
Chr12:49028974 [GRCh38]
Chr12:49422757 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.498A>G (p.Ser166=) |
single nucleotide variant |
Kabuki syndrome [RCV002725443] |
Chr12:49054319 [GRCh38]
Chr12:49448102 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1259-15T>G |
single nucleotide variant |
Kabuki syndrome [RCV002654830] |
Chr12:49052439 [GRCh38]
Chr12:49446222 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.927A>G (p.Glu309=) |
single nucleotide variant |
Kabuki syndrome [RCV002582855] |
Chr12:49053234 [GRCh38]
Chr12:49447017 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6362C>T (p.Ala2121Val) |
single nucleotide variant |
Kabuki syndrome [RCV003068541] |
Chr12:49041408 [GRCh38]
Chr12:49435191 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11003C>A (p.Pro3668His) |
single nucleotide variant |
Kabuki syndrome [RCV003069274] |
Chr12:49033702 [GRCh38]
Chr12:49427485 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7196C>T (p.Pro2399Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002653056] |
Chr12:49040574 [GRCh38]
Chr12:49434357 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2695G>T (p.Ala899Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002944913] |
Chr12:49050988 [GRCh38]
Chr12:49444771 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8603T>A (p.Val2868Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002943139] |
Chr12:49038753 [GRCh38]
Chr12:49432536 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13476C>T (p.Asp4492=) |
single nucleotide variant |
Kabuki syndrome [RCV002605247] |
Chr12:49031229 [GRCh38]
Chr12:49425012 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9609C>A (p.Gly3203=) |
single nucleotide variant |
Kabuki syndrome [RCV002605248] |
Chr12:49037747 [GRCh38]
Chr12:49431530 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4979T>C (p.Met1660Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002725690] |
Chr12:49044507 [GRCh38]
Chr12:49438290 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7471G>A (p.Ala2491Thr) |
single nucleotide variant |
Kabuki syndrome [RCV002943212] |
Chr12:49040299 [GRCh38]
Chr12:49434082 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2012T>C (p.Leu671Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002653892] |
Chr12:49051671 [GRCh38]
Chr12:49445454 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4444G>T (p.Ala1482Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003051409] |
Chr12:49046399 [GRCh38]
Chr12:49440182 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.3700G>T (p.Gly1234Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002584670] |
Chr12:49049888 [GRCh38]
Chr12:49443671 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14204G>A (p.Arg4735Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002583408] |
Chr12:49029108 [GRCh38]
Chr12:49422891 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2007dup (p.Pro670fs) |
duplication |
Kabuki syndrome 1 [RCV003149113] |
Chr12:49051675..49051676 [GRCh38]
Chr12:49445458..49445459 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15476G>A (p.Arg5159Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002603310] |
Chr12:49026490 [GRCh38]
Chr12:49420273 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5182G>A (p.Asp1728Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002634657]|Kabuki syndrome [RCV002609101] |
Chr12:49044206 [GRCh38]
Chr12:49437989 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.2397T>C (p.Pro799=) |
single nucleotide variant |
Kabuki syndrome [RCV002657988] |
Chr12:49051286 [GRCh38]
Chr12:49445069 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10039A>G (p.Met3347Val) |
single nucleotide variant |
Kabuki syndrome [RCV002633294] |
Chr12:49037317 [GRCh38]
Chr12:49431100 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3709T>G (p.Ser1237Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002609207] |
Chr12:49049879 [GRCh38]
Chr12:49443662 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1712G>A (p.Arg571His) |
single nucleotide variant |
Kabuki syndrome [RCV002609258] |
Chr12:49051971 [GRCh38]
Chr12:49445754 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8228A>G (p.Gln2743Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002582398] |
Chr12:49039436 [GRCh38]
Chr12:49433219 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7412G>A (p.Arg2471Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003093056] |
Chr12:49040358 [GRCh38]
Chr12:49434141 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6845G>A (p.Arg2282Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002654642] |
Chr12:49040925 [GRCh38]
Chr12:49434708 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11945G>A (p.Arg3982Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002585742] |
Chr12:49032760 [GRCh38]
Chr12:49426543 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2296GAG[3] (p.Glu767_Pro768insGlu) |
microsatellite |
Kabuki syndrome [RCV002633456] |
Chr12:49051381..49051382 [GRCh38]
Chr12:49445164..49445165 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15807G>T (p.Glu5269Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003093762] |
Chr12:49024924 [GRCh38]
Chr12:49418707 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8151A>G (p.Pro2717=) |
single nucleotide variant |
Kabuki syndrome [RCV002654731] |
Chr12:49039513 [GRCh38]
Chr12:49433296 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6375C>T (p.Phe2125=) |
single nucleotide variant |
Kabuki syndrome [RCV002588984] |
Chr12:49041395 [GRCh38]
Chr12:49435178 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6234+20G>A |
single nucleotide variant |
Kabuki syndrome [RCV003068529] |
Chr12:49041635 [GRCh38]
Chr12:49435418 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2004_2030del (p.662LSPPPEESP[1]) |
deletion |
Kabuki syndrome [RCV003071697] |
Chr12:49051653..49051679 [GRCh38]
Chr12:49445436..49445462 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14076-17C>T |
single nucleotide variant |
Kabuki syndrome [RCV002609818] |
Chr12:49029253 [GRCh38]
Chr12:49423036 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6110-6C>T |
single nucleotide variant |
Kabuki syndrome [RCV002721697] |
Chr12:49041996 [GRCh38]
Chr12:49435779 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12005C>T (p.Pro4002Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002653091] |
Chr12:49032700 [GRCh38]
Chr12:49426483 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.548C>G (p.Pro183Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002583174] |
Chr12:49054103 [GRCh38]
Chr12:49447886 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8903C>T (p.Pro2968Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003068610] |
Chr12:49038453 [GRCh38]
Chr12:49432236 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3814T>C (p.Leu1272=) |
single nucleotide variant |
Kabuki syndrome [RCV002584387] |
Chr12:49049774 [GRCh38]
Chr12:49443557 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10071A>G (p.Leu3357=) |
single nucleotide variant |
Kabuki syndrome [RCV002584388] |
Chr12:49037285 [GRCh38]
Chr12:49431068 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9380G>A (p.Arg3127His) |
single nucleotide variant |
Kabuki syndrome [RCV003072971] |
Chr12:49037976 [GRCh38]
Chr12:49431759 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14690A>G (p.Asn4897Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003073037] |
Chr12:49027276 [GRCh38]
Chr12:49421059 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11715_11732del (p.3900LQQQQQ[2]) |
deletion |
Kabuki syndrome [RCV002635570] |
Chr12:49032973..49032990 [GRCh38]
Chr12:49426756..49426773 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4964-20T>G |
single nucleotide variant |
Kabuki syndrome [RCV002605918] |
Chr12:49044542 [GRCh38]
Chr12:49438325 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10451C>T (p.Ala3484Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002677588]|Kabuki syndrome [RCV003588848] |
Chr12:49034466 [GRCh38]
Chr12:49428249 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.16554C>T (p.Asp5518=) |
single nucleotide variant |
Kabuki syndrome [RCV003070948] |
Chr12:49021840 [GRCh38]
Chr12:49415623 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11817_11837dup (p.Gln3946_Gln3947insLeuGlnGlnGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV003070950] |
Chr12:49032867..49032868 [GRCh38]
Chr12:49426650..49426651 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4964-19C>T |
single nucleotide variant |
Kabuki syndrome [RCV003072075] |
Chr12:49044541 [GRCh38]
Chr12:49438324 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2587C>T (p.Arg863Trp) |
single nucleotide variant |
Kabuki syndrome [RCV002633244] |
Chr12:49051096 [GRCh38]
Chr12:49444879 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16521+8dup |
duplication |
Kabuki syndrome [RCV003050091] |
Chr12:49022034..49022035 [GRCh38]
Chr12:49415817..49415818 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1153C>T (p.Pro385Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003069724] |
Chr12:49052669 [GRCh38]
Chr12:49446452 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6634C>G (p.Leu2212Val) |
single nucleotide variant |
Kabuki syndrome [RCV003071019] |
Chr12:49041136 [GRCh38]
Chr12:49434919 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1961C>T (p.Ser654Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003071025] |
Chr12:49051722 [GRCh38]
Chr12:49445505 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.3944G>C (p.Arg1315Pro) |
single nucleotide variant |
Kabuki syndrome [RCV002585451] |
Chr12:49049181 [GRCh38]
Chr12:49442964 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13605C>T (p.Ser4535=) |
single nucleotide variant |
KMT2D-related condition [RCV003898819]|Kabuki syndrome [RCV002588273] |
Chr12:49030959 [GRCh38]
Chr12:49424742 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2244G>A (p.Glu748=) |
single nucleotide variant |
Kabuki syndrome [RCV002588303] |
Chr12:49051439 [GRCh38]
Chr12:49445222 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8845A>G (p.Thr2949Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003068122] |
Chr12:49038511 [GRCh38]
Chr12:49432294 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5852C>T (p.Pro1951Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003051438] |
Chr12:49042576 [GRCh38]
Chr12:49436359 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9674G>T (p.Gly3225Val) |
single nucleotide variant |
Kabuki syndrome [RCV002584706] |
Chr12:49037682 [GRCh38]
Chr12:49431465 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.13018C>T (p.His4340Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003072317] |
Chr12:49031687 [GRCh38]
Chr12:49425470 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4338T>C (p.Asp1446=) |
single nucleotide variant |
Kabuki syndrome [RCV002612794] |
Chr12:49046689 [GRCh38]
Chr12:49440472 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10942C>T (p.Pro3648Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003092427] |
Chr12:49033763 [GRCh38]
Chr12:49427546 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8906C>T (p.Ser2969Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003420387]|Kabuki syndrome [RCV002633445]|not provided [RCV003140131] |
Chr12:49038450 [GRCh38]
Chr12:49432233 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.7510G>A (p.Gly2504Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003071262] |
Chr12:49040260 [GRCh38]
Chr12:49434043 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3544T>C (p.Cys1182Arg) |
single nucleotide variant |
Kabuki syndrome [RCV002610885] |
Chr12:49050044 [GRCh38]
Chr12:49443827 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14801T>C (p.Val4934Ala) |
single nucleotide variant |
Kabuki syndrome [RCV002612984] |
Chr12:49027165 [GRCh38]
Chr12:49420948 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5184C>T (p.Asp1728=) |
single nucleotide variant |
KMT2D-related condition [RCV003971319]|Kabuki syndrome [RCV002586629] |
Chr12:49044204 [GRCh38]
Chr12:49437987 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.2379G>A (p.Glu793=) |
single nucleotide variant |
Kabuki syndrome [RCV002588527] |
Chr12:49051304 [GRCh38]
Chr12:49445087 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1557C>G (p.Pro519=) |
single nucleotide variant |
Kabuki syndrome [RCV003067778] |
Chr12:49052126 [GRCh38]
Chr12:49445909 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1188A>G (p.Pro396=) |
single nucleotide variant |
Kabuki syndrome [RCV002726107] |
Chr12:49052634 [GRCh38]
Chr12:49446417 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12483G>A (p.Glu4161=) |
single nucleotide variant |
Kabuki syndrome [RCV002942637] |
Chr12:49032222 [GRCh38]
Chr12:49426005 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10877G>A (p.Arg3626Gln) |
single nucleotide variant |
Kabuki syndrome [RCV002585044] |
Chr12:49033828 [GRCh38]
Chr12:49427611 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12442A>G (p.Met4148Val) |
single nucleotide variant |
Kabuki syndrome [RCV002609330] |
Chr12:49032263 [GRCh38]
Chr12:49426046 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13022C>T (p.Pro4341Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002611255] |
Chr12:49031683 [GRCh38]
Chr12:49425466 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9834_9842dup (p.Gln3282_His3283insGlnGlnGln) |
duplication |
Kabuki syndrome [RCV002613295] |
Chr12:49037513..49037514 [GRCh38]
Chr12:49431296..49431297 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.193C>T (p.Arg65Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003403871]|Kabuki syndrome [RCV002613342] |
Chr12:49054735 [GRCh38]
Chr12:49448518 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.10231+19A>G |
single nucleotide variant |
Kabuki syndrome [RCV002942683] |
Chr12:49037106 [GRCh38]
Chr12:49430889 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2403T>G (p.Pro801=) |
single nucleotide variant |
Kabuki syndrome [RCV002653264] |
Chr12:49051280 [GRCh38]
Chr12:49445063 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3926C>T (p.Pro1309Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003418556]|Kabuki syndrome [RCV002588902] |
Chr12:49049199 [GRCh38]
Chr12:49442982 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15207G>C (p.Val5069=) |
single nucleotide variant |
Kabuki syndrome [RCV002611297] |
Chr12:49026759 [GRCh38]
Chr12:49420542 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12505_12506delinsTT (p.Gly4169Leu) |
indel |
Kabuki syndrome [RCV003092870] |
Chr12:49032199..49032200 [GRCh38]
Chr12:49425982..49425983 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5908G>T (p.Asp1970Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003092871] |
Chr12:49042290 [GRCh38]
Chr12:49436073 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10536G>A (p.Glu3512=) |
single nucleotide variant |
Kabuki syndrome [RCV003051348] |
Chr12:49034271 [GRCh38]
Chr12:49428054 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8923C>T (p.Arg2975Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002654441] |
Chr12:49038433 [GRCh38]
Chr12:49432216 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11233_11277del (p.Gln3745_Gln3759del) |
deletion |
Kabuki syndrome [RCV003069564] |
Chr12:49033428..49033472 [GRCh38]
Chr12:49427211..49427255 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15564C>T (p.Ile5188=) |
single nucleotide variant |
Kabuki syndrome [RCV003069566] |
Chr12:49026402 [GRCh38]
Chr12:49420185 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3965G>A (p.Arg1322His) |
single nucleotide variant |
Kabuki syndrome [RCV003069617] |
Chr12:49049160 [GRCh38]
Chr12:49442943 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6854T>C (p.Leu2285Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003072136] |
Chr12:49040916 [GRCh38]
Chr12:49434699 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10440+16G>C |
single nucleotide variant |
Kabuki syndrome [RCV002584049] |
Chr12:49034566 [GRCh38]
Chr12:49428349 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14896C>T (p.Arg4966Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003427568]|Kabuki syndrome [RCV003093197] |
Chr12:49027070 [GRCh38]
Chr12:49420853 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.15562A>G (p.Ile5188Val) |
single nucleotide variant |
Kabuki syndrome [RCV003093196] |
Chr12:49026404 [GRCh38]
Chr12:49420187 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.15858G>T (p.Glu5286Asp) |
single nucleotide variant |
Kabuki syndrome [RCV002635352] |
Chr12:49024873 [GRCh38]
Chr12:49418656 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10314G>C (p.Val3438=) |
single nucleotide variant |
Kabuki syndrome [RCV002635422] |
Chr12:49034853 [GRCh38]
Chr12:49428636 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8714G>A (p.Arg2905His) |
single nucleotide variant |
Kabuki syndrome [RCV003068548] |
Chr12:49038642 [GRCh38]
Chr12:49432425 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.512G>A (p.Arg171His) |
single nucleotide variant |
Inborn genetic diseases [RCV003375658]|Kabuki syndrome [RCV002653606] |
Chr12:49054139 [GRCh38]
Chr12:49447922 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10944G>A (p.Pro3648=) |
single nucleotide variant |
Kabuki syndrome [RCV003072619]|not provided [RCV003389916] |
Chr12:49033761 [GRCh38]
Chr12:49427544 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5807C>G (p.Pro1936Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003050519] |
Chr12:49042621 [GRCh38]
Chr12:49436404 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11704C>G (p.Gln3902Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002944986]|Kabuki syndrome [RCV003777989] |
Chr12:49033001 [GRCh38]
Chr12:49426784 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9784A>G (p.Lys3262Glu) |
single nucleotide variant |
Kabuki syndrome [RCV002635561] |
Chr12:49037572 [GRCh38]
Chr12:49431355 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10843G>A (p.Ala3615Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003170684]|Kabuki syndrome [RCV002943243] |
Chr12:49033862 [GRCh38]
Chr12:49427645 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8894A>G (p.Asn2965Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003068689] |
Chr12:49038462 [GRCh38]
Chr12:49432245 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6589C>T (p.Pro2197Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003051992] |
Chr12:49041181 [GRCh38]
Chr12:49434964 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7838C>T (p.Pro2613Leu) |
single nucleotide variant |
Kabuki syndrome [RCV002606673] |
Chr12:49039932 [GRCh38]
Chr12:49433715 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2028G>A (p.Glu676=) |
single nucleotide variant |
Kabuki syndrome [RCV002612245] |
Chr12:49051655 [GRCh38]
Chr12:49445438 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15890C>T (p.Thr5297Met) |
single nucleotide variant |
Kabuki syndrome [RCV003093441] |
Chr12:49024841 [GRCh38]
Chr12:49418624 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14879G>A (p.Arg4960Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003973663]|Kabuki syndrome [RCV003073107] |
Chr12:49027087 [GRCh38]
Chr12:49420870 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8713C>T (p.Arg2905Cys) |
single nucleotide variant |
Kabuki syndrome [RCV002612503] |
Chr12:49038643 [GRCh38]
Chr12:49432426 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11280T>A (p.Gly3760=) |
single nucleotide variant |
Kabuki syndrome [RCV003070958] |
Chr12:49033425 [GRCh38]
Chr12:49427208 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6209C>T (p.Ala2070Val) |
single nucleotide variant |
Kabuki syndrome [RCV002612564]|not provided [RCV003222460] |
Chr12:49041680 [GRCh38]
Chr12:49435463 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14643+3A>G |
single nucleotide variant |
Kabuki syndrome [RCV002612650] |
Chr12:49027800 [GRCh38]
Chr12:49421583 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6988C>T (p.Pro2330Ser) |
single nucleotide variant |
Kabuki syndrome [RCV002633302] |
Chr12:49040782 [GRCh38]
Chr12:49434565 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5911A>G (p.Ser1971Gly) |
single nucleotide variant |
Kabuki syndrome [RCV002582399] |
Chr12:49042287 [GRCh38]
Chr12:49436070 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10355+5G>A |
single nucleotide variant |
Kabuki syndrome [RCV002725947] |
Chr12:49034807 [GRCh38]
Chr12:49428590 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13839+3C>A |
single nucleotide variant |
not provided [RCV003131396] |
Chr12:49030598 [GRCh38]
Chr12:49424381 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8453G>A (p.Trp2818Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003155540] |
Chr12:49038903 [GRCh38]
Chr12:49432686 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13730C>T (p.Ala4577Val) |
single nucleotide variant |
not provided [RCV003131400] |
Chr12:49030710 [GRCh38]
Chr12:49424493 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1643del (p.Pro548fs) |
deletion |
Kabuki syndrome 1 [RCV003154624] |
Chr12:49052040 [GRCh38]
Chr12:49445823 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14953G>A (p.Val4985Met) |
single nucleotide variant |
Kabuki syndrome [RCV003588865]|not provided [RCV003131399] |
Chr12:49027013 [GRCh38]
Chr12:49420796 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.4924G>A (p.Asp1642Asn) |
single nucleotide variant |
not provided [RCV003131404] |
Chr12:49044783 [GRCh38]
Chr12:49438566 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14701C>A (p.Leu4901Met) |
single nucleotide variant |
not provided [RCV003131402] |
Chr12:49027265 [GRCh38]
Chr12:49421048 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15731A>G (p.Lys5244Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588867]|not provided [RCV003131403] |
Chr12:49026235 [GRCh38]
Chr12:49420018 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1353ACC[1] (p.Pro453del) |
microsatellite |
not provided [RCV003229478] |
Chr12:49052325..49052327 [GRCh38]
Chr12:49446108..49446110 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7997_8003dup (p.Met2669fs) |
microsatellite |
Kabuki syndrome 1 [RCV003225616] |
Chr12:49039766..49039767 [GRCh38]
Chr12:49433549..49433550 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11332C>G (p.Pro3778Ala) |
single nucleotide variant |
not provided [RCV003219024] |
Chr12:49033373 [GRCh38]
Chr12:49427156 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.293C>T (p.Ser98Phe) |
single nucleotide variant |
not provided [RCV003221513] |
Chr12:49054635 [GRCh38]
Chr12:49448418 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14734G>C (p.Glu4912Gln) |
single nucleotide variant |
not provided [RCV003133943] |
Chr12:49027232 [GRCh38]
Chr12:49421015 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2005T>C (p.Ser669Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003778724]|not provided [RCV003133933] |
Chr12:49051678 [GRCh38]
Chr12:49445461 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5189-2A>G |
single nucleotide variant |
not provided [RCV003228383] |
Chr12:49044000 [GRCh38]
Chr12:49437783 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6387_6439delinsACTACCCCCGCCGGCTTGTCTACCTCTGCGGA (p.Thr2130_Ala2147delinsLeuProProProAlaCysLeuProLeuArgThr) |
indel |
not provided [RCV003223969] |
Chr12:49041331..49041383 [GRCh38]
Chr12:49435114..49435166 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12161C>G (p.Thr4054Ser) |
single nucleotide variant |
not provided [RCV003229476] |
Chr12:49032544 [GRCh38]
Chr12:49426327 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1375T>A (p.Ser459Thr) |
single nucleotide variant |
not provided [RCV003133936] |
Chr12:49052308 [GRCh38]
Chr12:49446091 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2831C>T (p.Thr944Ile) |
single nucleotide variant |
not provided [RCV003133937] |
Chr12:49050757 [GRCh38]
Chr12:49444540 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13991C>T (p.Ala4664Val) |
single nucleotide variant |
not provided [RCV003133946] |
Chr12:49030288 [GRCh38]
Chr12:49424071 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6745T>C (p.Cys2249Arg) |
single nucleotide variant |
not provided [RCV003133932] |
Chr12:49041025 [GRCh38]
Chr12:49434808 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8077C>T (p.Gln2693Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003228234] |
Chr12:49039587 [GRCh38]
Chr12:49433370 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1193del (p.Gly398fs) |
deletion |
Kabuki syndrome 1 [RCV003228885] |
Chr12:49052629 [GRCh38]
Chr12:49446412 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13133A>G (p.Asp4378Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003193358] |
Chr12:49031572 [GRCh38]
Chr12:49425355 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8366G>A (p.Arg2789Gln) |
single nucleotide variant |
not provided [RCV003224044] |
Chr12:49039222 [GRCh38]
Chr12:49433005 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7321dup (p.Thr2441fs) |
duplication |
not provided [RCV003140831] |
Chr12:49040448..49040449 [GRCh38]
Chr12:49434231..49434232 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1485_1486del (p.Pro496fs) |
microsatellite |
not provided [RCV003140842] |
Chr12:49052197..49052198 [GRCh38]
Chr12:49445980..49445981 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.5339A>G (p.Glu1780Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003211675] |
Chr12:49043763 [GRCh38]
Chr12:49437546 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14530G>T (p.Gly4844Cys) |
single nucleotide variant |
Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome [RCV003225898] |
Chr12:49027916 [GRCh38]
Chr12:49421699 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11746C>T (p.Gln3916Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003142489] |
Chr12:49032959 [GRCh38]
Chr12:49426742 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16015G>A (p.Ala5339Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003753263]|not provided [RCV003133938] |
Chr12:49024615 [GRCh38]
Chr12:49418398 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4049A>C (p.Lys1350Thr) |
single nucleotide variant |
not provided [RCV003133940] |
Chr12:49048741 [GRCh38]
Chr12:49442524 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8131G>A (p.Ala2711Thr) |
single nucleotide variant |
not provided [RCV003133931] |
Chr12:49039533 [GRCh38]
Chr12:49433316 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12553C>G (p.Leu4185Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003212891] |
Chr12:49032152 [GRCh38]
Chr12:49425935 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7511G>A (p.Gly2504Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003212892]|Kabuki syndrome [RCV003588878] |
Chr12:49040259 [GRCh38]
Chr12:49434042 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5959C>T (p.Pro1987Ser) |
single nucleotide variant |
not provided [RCV003142604] |
Chr12:49042239 [GRCh38]
Chr12:49436022 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3907-11_3907-9del |
microsatellite |
not provided [RCV003129153] |
Chr12:49049227..49049229 [GRCh38]
Chr12:49443010..49443012 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14545A>G (p.Ser4849Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003208911] |
Chr12:49027901 [GRCh38]
Chr12:49421684 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12713G>T (p.Arg4238Leu) |
single nucleotide variant |
not provided [RCV003133935] |
Chr12:49031992 [GRCh38]
Chr12:49425775 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8876C>G (p.Thr2959Ser) |
single nucleotide variant |
not provided [RCV003133939] |
Chr12:49038480 [GRCh38]
Chr12:49432263 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6466C>G (p.Pro2156Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003410268]|Kabuki syndrome [RCV003588866]|not provided [RCV003133944] |
Chr12:49041304 [GRCh38]
Chr12:49435087 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.8201G>A (p.Arg2734Gln) |
single nucleotide variant |
not provided [RCV003133942] |
Chr12:49039463 [GRCh38]
Chr12:49433246 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.805C>G (p.Gln269Glu) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003140467] |
Chr12:49053510 [GRCh38]
Chr12:49447293 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6401G>C (p.Gly2134Ala) |
single nucleotide variant |
not provided [RCV003227212] |
Chr12:49041369 [GRCh38]
Chr12:49435152 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3854dup (p.Glu1287fs) |
duplication |
Kabuki syndrome 1 [RCV003148029] |
Chr12:49049733..49049734 [GRCh38]
Chr12:49443516..49443517 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15838A>G (p.Met5280Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003215263] |
Chr12:49024893 [GRCh38]
Chr12:49418676 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14069A>T (p.Asp4690Val) |
single nucleotide variant |
not provided [RCV003221584] |
Chr12:49029407 [GRCh38]
Chr12:49423190 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13280G>C (p.Gly4427Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003205386] |
Chr12:49031425 [GRCh38]
Chr12:49425208 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.374C>A (p.Thr125Lys) |
single nucleotide variant |
not provided [RCV003227246] |
Chr12:49054554 [GRCh38]
Chr12:49448337 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4721C>T (p.Pro1574Leu) |
single nucleotide variant |
not provided [RCV003225546] |
Chr12:49045940 [GRCh38]
Chr12:49439723 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10615C>T (p.Arg3539Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003225689] |
Chr12:49034192 [GRCh38]
Chr12:49427975 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9728G>C (p.Ser3243Thr) |
single nucleotide variant |
not provided [RCV003222765] |
Chr12:49037628 [GRCh38]
Chr12:49431411 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15858_15859del (p.Tyr5287fs) |
deletion |
Inborn genetic diseases [RCV003200493] |
Chr12:49024872..49024873 [GRCh38]
Chr12:49418655..49418656 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7644del (p.Lys2548fs) |
deletion |
Kabuki syndrome 1 [RCV003159568] |
Chr12:49040126 [GRCh38]
Chr12:49433909 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6088A>G (p.Asn2030Asp) |
single nucleotide variant |
not provided [RCV003219135] |
Chr12:49042110 [GRCh38]
Chr12:49435893 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9905C>T (p.Ser3302Phe) |
single nucleotide variant |
not provided [RCV003228260] |
Chr12:49037451 [GRCh38]
Chr12:49431234 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14345T>C (p.Val4782Ala) |
single nucleotide variant |
not provided [RCV003227451] |
Chr12:49028865 [GRCh38]
Chr12:49422648 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2281C>A (p.Leu761Ile) |
single nucleotide variant |
not provided [RCV003225478] |
Chr12:49051402 [GRCh38]
Chr12:49445185 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10198C>T (p.Gln3400Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003225643] |
Chr12:49037158 [GRCh38]
Chr12:49430941 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15626G>T (p.Gly5209Val) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003228235] |
Chr12:49026340 [GRCh38]
Chr12:49420123 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9617G>T (p.Gly3206Val) |
single nucleotide variant |
not provided [RCV003227330] |
Chr12:49037739 [GRCh38]
Chr12:49431522 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3190del (p.Val1064fs) |
deletion |
Kabuki syndrome 1 [RCV003225696] |
Chr12:49050398 [GRCh38]
Chr12:49444181 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11119C>T (p.Arg3707Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003225705] |
Chr12:49033586 [GRCh38]
Chr12:49427369 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9902G>T (p.Gly3301Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003195182] |
Chr12:49037454 [GRCh38]
Chr12:49431237 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11142G>C (p.Arg3714Ser) |
single nucleotide variant |
not provided [RCV003133945] |
Chr12:49033563 [GRCh38]
Chr12:49427346 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7216G>A (p.Asp2406Asn) |
single nucleotide variant |
not provided [RCV003133941] |
Chr12:49040554 [GRCh38]
Chr12:49434337 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13156_13163del (p.Thr4386fs) |
deletion |
not provided [RCV003325349] |
Chr12:49031542..49031549 [GRCh38]
Chr12:49425325..49425332 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.13373C>T (p.Ala4458Val) |
single nucleotide variant |
not provided [RCV003319734] |
Chr12:49031332 [GRCh38]
Chr12:49425115 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12160A>C (p.Thr4054Pro) |
single nucleotide variant |
not provided [RCV003324891] |
Chr12:49032545 [GRCh38]
Chr12:49426328 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11962C>T (p.Gln3988Ter) |
single nucleotide variant |
not provided [RCV003323109] |
Chr12:49032743 [GRCh38]
Chr12:49426526 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12259A>C (p.Ser4087Arg) |
single nucleotide variant |
not provided [RCV003323041] |
Chr12:49032446 [GRCh38]
Chr12:49426229 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2495A>T (p.His832Leu) |
single nucleotide variant |
not provided [RCV003325126] |
Chr12:49051188 [GRCh38]
Chr12:49444971 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1438C>G (p.Pro480Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003309459]|Kabuki syndrome [RCV003777089] |
Chr12:49052245 [GRCh38]
Chr12:49446028 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.8257C>T (p.Pro2753Ser) |
single nucleotide variant |
not provided [RCV003319940] |
Chr12:49039331 [GRCh38]
Chr12:49433114 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14719_14731del (p.Ser4907fs) |
deletion |
Kabuki syndrome 1 [RCV003324631] |
Chr12:49027235..49027247 [GRCh38]
Chr12:49421018..49421030 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12470_12484del (p.Gln4157_Glu4161del) |
deletion |
not provided [RCV003318921] |
Chr12:49032221..49032235 [GRCh38]
Chr12:49426004..49426018 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3917G>A (p.Ser1306Asn) |
single nucleotide variant |
not provided [RCV003325145] |
Chr12:49049208 [GRCh38]
Chr12:49442991 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11718_11759del (p.3903QQQLQQQQQLQQQQ[1]) |
deletion |
Kabuki syndrome [RCV003588889]|not provided [RCV003319905] |
Chr12:49032946..49032987 [GRCh38]
Chr12:49426729..49426770 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14381A>G (p.Lys4794Arg) |
single nucleotide variant |
not provided [RCV003325832] |
Chr12:49028829 [GRCh38]
Chr12:49422612 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15460C>T (p.Arg5154Trp) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003327355] |
Chr12:49026506 [GRCh38]
Chr12:49420289 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5771C>T (p.Pro1924Leu) |
single nucleotide variant |
not provided [RCV003325831] |
Chr12:49042752 [GRCh38]
Chr12:49436535 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3965del (p.Arg1322fs) |
deletion |
Kabuki syndrome 1 [RCV003330223] |
Chr12:49049160 [GRCh38]
Chr12:49442943 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4139G>T (p.Cys1380Phe) |
single nucleotide variant |
not provided [RCV003329816] |
Chr12:49048062 [GRCh38]
Chr12:49441845 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7123A>G (p.Thr2375Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003410350]|not provided [RCV003329874] |
Chr12:49040647 [GRCh38]
Chr12:49434430 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9319T>C (p.Ser3107Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003397818] |
Chr12:49038037 [GRCh38]
Chr12:49431820 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14662C>T (p.Pro4888Ser) |
single nucleotide variant |
not provided [RCV003328801] |
Chr12:49027304 [GRCh38]
Chr12:49421087 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1035_1036del (p.Cys346fs) |
microsatellite |
Kabuki syndrome 1 [RCV003397195] |
Chr12:49052991..49052992 [GRCh38]
Chr12:49446774..49446775 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3220G>T (p.Glu1074Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003338218] |
Chr12:49050368 [GRCh38]
Chr12:49444151 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2557C>T (p.Pro853Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753274]|not provided [RCV003387650] |
Chr12:49051126 [GRCh38]
Chr12:49444909 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3994A>G (p.Thr1332Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003342394]|Kabuki syndrome [RCV003588898] |
Chr12:49049131 [GRCh38]
Chr12:49442914 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8720A>G (p.Tyr2907Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003378950] |
Chr12:49038636 [GRCh38]
Chr12:49432419 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6544G>T (p.Ala2182Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003361707] |
Chr12:49041226 [GRCh38]
Chr12:49435009 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8486T>C (p.Met2829Thr) |
single nucleotide variant |
not provided [RCV003332529] |
Chr12:49038870 [GRCh38]
Chr12:49432653 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3184G>T (p.Val1062Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003373281] |
Chr12:49050404 [GRCh38]
Chr12:49444187 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4906G>C (p.Gly1636Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003420684] |
Chr12:49044801 [GRCh38]
Chr12:49438584 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2705A>T (p.Glu902Val) |
single nucleotide variant |
KMT2D-related condition [RCV003393196] |
Chr12:49050978 [GRCh38]
Chr12:49444761 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15424T>C (p.Cys5142Arg) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003333275] |
Chr12:49026542 [GRCh38]
Chr12:49420325 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11138C>G (p.Ser3713Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003333381] |
Chr12:49033567 [GRCh38]
Chr12:49427350 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1603C>T (p.Pro535Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003333435] |
Chr12:49052080 [GRCh38]
Chr12:49445863 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4413C>G (p.Cys1471Trp) |
single nucleotide variant |
not provided [RCV003332793] |
Chr12:49046614 [GRCh38]
Chr12:49440397 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1336del (p.Glu446fs) |
deletion |
Kabuki syndrome 1 [RCV003335930] |
Chr12:49052347 [GRCh38]
Chr12:49446130 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.3650G>A (p.Ser1217Asn) |
single nucleotide variant |
not provided [RCV003456807] |
Chr12:49049938 [GRCh38]
Chr12:49443721 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9352G>A (p.Val3118Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003354139]|Kabuki syndrome [RCV003753272] |
Chr12:49038004 [GRCh38]
Chr12:49431787 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2871dup (p.Glu958fs) |
duplication |
Kabuki syndrome 1 [RCV003335914] |
Chr12:49050716..49050717 [GRCh38]
Chr12:49444499..49444500 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13756A>T (p.Asn4586Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003366545] |
Chr12:49030684 [GRCh38]
Chr12:49424467 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10855C>G (p.Leu3619Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003371543] |
Chr12:49033850 [GRCh38]
Chr12:49427633 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13531-5C>G |
single nucleotide variant |
Kabuki syndrome [RCV003875507] |
Chr12:49031038 [GRCh38]
Chr12:49424821 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9643C>T (p.Leu3215Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003873333] |
Chr12:49037713 [GRCh38]
Chr12:49431496 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1638C>T (p.Ser546=) |
single nucleotide variant |
not specified [RCV003479553] |
Chr12:49052045 [GRCh38]
Chr12:49445828 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11202GCA[3] (p.Gln3742_Gln3745del) |
microsatellite |
Kabuki syndrome [RCV003873336] |
Chr12:49033483..49033494 [GRCh38]
Chr12:49427266..49427277 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6967A>G (p.Thr2323Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003875646] |
Chr12:49040803 [GRCh38]
Chr12:49434586 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5403A>G (p.Leu1801=) |
single nucleotide variant |
Kabuki syndrome [RCV003826685] |
Chr12:49043699 [GRCh38]
Chr12:49437482 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15901G>A (p.Val5301Met) |
single nucleotide variant |
Kabuki syndrome [RCV003874008] |
Chr12:49024830 [GRCh38]
Chr12:49418613 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5645-15_5645-13dup |
duplication |
Kabuki syndrome [RCV003875602] |
Chr12:49042890..49042891 [GRCh38]
Chr12:49436673..49436674 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6819C>G (p.Leu2273=) |
single nucleotide variant |
Kabuki syndrome [RCV003875651] |
Chr12:49040951 [GRCh38]
Chr12:49434734 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15057_15061del (p.Leu5020fs) |
deletion |
Kabuki syndrome 1 [RCV003447684] |
Chr12:49026905..49026909 [GRCh38]
Chr12:49420688..49420692 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13074C>G (p.Val4358=) |
single nucleotide variant |
Kabuki syndrome [RCV003873056] |
Chr12:49031631 [GRCh38]
Chr12:49425414 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3086A>G (p.Gln1029Arg) |
single nucleotide variant |
not specified [RCV003479948] |
Chr12:49050502 [GRCh38]
Chr12:49444285 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10786C>T (p.Arg3596Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003872612] |
Chr12:49033919 [GRCh38]
Chr12:49427702 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12549G>T (p.Gln4183His) |
single nucleotide variant |
Kabuki syndrome [RCV003778469]|not provided [RCV003443829] |
Chr12:49032156 [GRCh38]
Chr12:49425939 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.16312C>T (p.Arg5438Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003420882] |
Chr12:49022616 [GRCh38]
Chr12:49416399 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5075A>G (p.Tyr1692Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003391419]|Kabuki syndrome [RCV003588904] |
Chr12:49044411 [GRCh38]
Chr12:49438194 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13880C>T (p.Pro4627Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003391674] |
Chr12:49030399 [GRCh38]
Chr12:49424182 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15078G>T (p.Pro5026=) |
single nucleotide variant |
KMT2D-related condition [RCV003929041]|not provided [RCV003391774] |
Chr12:49026888 [GRCh38]
Chr12:49420671 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13932A>C (p.Pro4644=) |
single nucleotide variant |
not provided [RCV003391775] |
Chr12:49030347 [GRCh38]
Chr12:49424130 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13890A>C (p.Pro4630=) |
single nucleotide variant |
not provided [RCV003391776] |
Chr12:49030389 [GRCh38]
Chr12:49424172 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12321G>A (p.Leu4107=) |
single nucleotide variant |
not provided [RCV003391777] |
Chr12:49032384 [GRCh38]
Chr12:49426167 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3100C>T (p.Pro1034Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003402210]|Kabuki syndrome [RCV003753280] |
Chr12:49050488 [GRCh38]
Chr12:49444271 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3770T>C (p.Leu1257Pro) |
single nucleotide variant |
not provided [RCV003391792] |
Chr12:49049818 [GRCh38]
Chr12:49443601 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3684C>T (p.Gly1228=) |
single nucleotide variant |
not provided [RCV003391793] |
Chr12:49049904 [GRCh38]
Chr12:49443687 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9806A>G (p.Gln3269Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003399793] |
Chr12:49037550 [GRCh38]
Chr12:49431333 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12735_12748del (p.Glu4245fs) |
deletion |
Kabuki syndrome 1 [RCV003484517] |
Chr12:49031957..49031970 [GRCh38]
Chr12:49425740..49425753 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.3294G>T (p.Met1098Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003753296]|not provided [RCV003456808] |
Chr12:49050294 [GRCh38]
Chr12:49444077 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.1753C>T (p.Pro585Ser) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003447878] |
Chr12:49051930 [GRCh38]
Chr12:49445713 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4802G>A (p.Arg1601His) |
single nucleotide variant |
KMT2D-related condition [RCV003399691]|Kabuki syndrome [RCV003753277] |
Chr12:49044905 [GRCh38]
Chr12:49438688 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12052A>G (p.Thr4018Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003427752] |
Chr12:49032653 [GRCh38]
Chr12:49426436 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15785-11del |
deletion |
Kabuki syndrome [RCV003753292]|not provided [RCV003441595] |
Chr12:49024957 [GRCh38]
Chr12:49418740 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7541A>C (p.Gln2514Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003427945] |
Chr12:49040229 [GRCh38]
Chr12:49434012 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15947del (p.Asn5316fs) |
deletion |
KMT2D-related condition [RCV003405930] |
Chr12:49024683 [GRCh38]
Chr12:49418466 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.14672A>G (p.Gln4891Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003399789] |
Chr12:49027294 [GRCh38]
Chr12:49421077 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4943_4951del (p.Asp1648_Leu1651delinsVal) |
deletion |
KMT2D-related condition [RCV003400411] |
Chr12:49044756..49044764 [GRCh38]
Chr12:49438539..49438547 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12760C>T (p.Gln4254Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003400466] |
Chr12:49031945 [GRCh38]
Chr12:49425728 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11012C>G (p.Pro3671Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003420865] |
Chr12:49033693 [GRCh38]
Chr12:49427476 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11545G>A (p.Gly3849Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003421050] |
Chr12:49033160 [GRCh38]
Chr12:49426943 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10957G>T (p.Gly3653Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003402282] |
Chr12:49033748 [GRCh38]
Chr12:49427531 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6538G>A (p.Ala2180Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003402646] |
Chr12:49041232 [GRCh38]
Chr12:49435015 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15670C>T (p.Arg5224Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753288]|not provided [RCV003398169] |
Chr12:49026296 [GRCh38]
Chr12:49420079 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7210C>T (p.Pro2404Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003402514] |
Chr12:49040560 [GRCh38]
Chr12:49434343 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12349G>A (p.Gly4117Arg) |
single nucleotide variant |
not specified [RCV003404766] |
Chr12:49032356 [GRCh38]
Chr12:49426139 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3412G>A (p.Gly1138Arg) |
single nucleotide variant |
not specified [RCV003404851] |
Chr12:49050176 [GRCh38]
Chr12:49443959 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1099C>T (p.Pro367Ser) |
single nucleotide variant |
not specified [RCV003404969] |
Chr12:49052928 [GRCh38]
Chr12:49446711 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15540G>A (p.Val5180=) |
single nucleotide variant |
KMT2D-related condition [RCV003418925]|Kabuki syndrome [RCV003753285] |
Chr12:49026426 [GRCh38]
Chr12:49420209 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11880ACA[4] (p.Gln3965_Phe3966insGln) |
microsatellite |
KMT2D-related condition [RCV003402686] |
Chr12:49032816..49032817 [GRCh38]
Chr12:49426599..49426600 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8985C>A (p.Asp2995Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003408296] |
Chr12:49038371 [GRCh38]
Chr12:49432154 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1371C>T (p.Pro457=) |
single nucleotide variant |
not provided [RCV003391797] |
Chr12:49052312 [GRCh38]
Chr12:49446095 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.632A>G (p.Gln211Arg) |
single nucleotide variant |
not provided [RCV003391798] |
Chr12:49054019 [GRCh38]
Chr12:49447802 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3710C>T (p.Ser1237Phe) |
single nucleotide variant |
KMT2D-related condition [RCV003419176] |
Chr12:49049878 [GRCh38]
Chr12:49443661 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3344T>C (p.Phe1115Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003394481] |
Chr12:49050244 [GRCh38]
Chr12:49444027 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15754G>A (p.Asp5252Asn) |
single nucleotide variant |
KMT2D-related condition [RCV003404231] |
Chr12:49026212 [GRCh38]
Chr12:49419995 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1196G>C (p.Gly399Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003411991]|Kabuki syndrome [RCV003588902] |
Chr12:49052626 [GRCh38]
Chr12:49446409 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.2191G>A (p.Glu731Lys) |
single nucleotide variant |
KMT2D-related condition [RCV003397700] |
Chr12:49051492 [GRCh38]
Chr12:49445275 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2712G>A (p.Gly904=) |
single nucleotide variant |
not provided [RCV003443615] |
Chr12:49050971 [GRCh38]
Chr12:49444754 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4165G>T (p.Gly1389Trp) |
single nucleotide variant |
not provided [RCV003443623] |
Chr12:49048036 [GRCh38]
Chr12:49441819 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9322G>T (p.Glu3108Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003404360] |
Chr12:49038034 [GRCh38]
Chr12:49431817 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11880ACA[2] (p.Gln3965del) |
microsatellite |
KMT2D-related condition [RCV003412181]|Kabuki syndrome [RCV003753278] |
Chr12:49032817..49032819 [GRCh38]
Chr12:49426600..49426602 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5362G>A (p.Ala1788Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003412189]|Kabuki syndrome [RCV003753279] |
Chr12:49043740 [GRCh38]
Chr12:49437523 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.1091A>G (p.Gln364Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003412199]|Kabuki syndrome [RCV003778202] |
Chr12:49052936 [GRCh38]
Chr12:49446719 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.12557C>T (p.Pro4186Leu) |
single nucleotide variant |
not provided [RCV003442493] |
Chr12:49032148 [GRCh38]
Chr12:49425931 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4853T>C (p.Leu1618Pro) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003444490] |
Chr12:49044854 [GRCh38]
Chr12:49438637 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12205C>A (p.Leu4069Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003778384]|not provided [RCV003391778] |
Chr12:49032500 [GRCh38]
Chr12:49426283 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.11844_11864del (p.3948LQQQQQQ[1]) |
deletion |
not provided [RCV003391779] |
Chr12:49032841..49032861 [GRCh38]
Chr12:49426624..49426644 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10740+3G>A |
single nucleotide variant |
not provided [RCV003391780] |
Chr12:49034064 [GRCh38]
Chr12:49427847 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10367C>G (p.Ser3456Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003778386]|not provided [RCV003391781] |
Chr12:49034655 [GRCh38]
Chr12:49428438 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10212C>T (p.Asn3404=) |
single nucleotide variant |
not provided [RCV003391782] |
Chr12:49037144 [GRCh38]
Chr12:49430927 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10026C>T (p.Arg3342=) |
single nucleotide variant |
Kabuki syndrome [RCV003588911]|not provided [RCV003391783] |
Chr12:49037330 [GRCh38]
Chr12:49431113 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9438T>G (p.Ala3146=) |
single nucleotide variant |
not provided [RCV003391784] |
Chr12:49037918 [GRCh38]
Chr12:49431701 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8564C>T (p.Ala2855Val) |
single nucleotide variant |
Kabuki syndrome [RCV003588913]|not provided [RCV003391785] |
Chr12:49038792 [GRCh38]
Chr12:49432575 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.7212C>T (p.Pro2404=) |
single nucleotide variant |
not provided [RCV003391786] |
Chr12:49040558 [GRCh38]
Chr12:49434341 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6948G>A (p.Leu2316=) |
single nucleotide variant |
KMT2D-related condition [RCV003919111]|Kabuki syndrome [RCV003753290]|not provided [RCV003391787] |
Chr12:49040822 [GRCh38]
Chr12:49434605 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5392A>G (p.Ser1798Gly) |
single nucleotide variant |
not provided [RCV003391788] |
Chr12:49043710 [GRCh38]
Chr12:49437493 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4964-5C>T |
single nucleotide variant |
KMT2D-related condition [RCV003901040]|not provided [RCV003391789] |
Chr12:49044527 [GRCh38]
Chr12:49438310 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4007T>C (p.Ile1336Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003588914]|not provided [RCV003391790] |
Chr12:49049118 [GRCh38]
Chr12:49442901 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3875G>A (p.Arg1292His) |
single nucleotide variant |
not provided [RCV003391791] |
Chr12:49049713 [GRCh38]
Chr12:49443496 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2886T>C (p.Gly962=) |
single nucleotide variant |
KMT2D-related condition [RCV003980875]|not provided [RCV003391794] |
Chr12:49050702 [GRCh38]
Chr12:49444485 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2129C>A (p.Pro710Gln) |
single nucleotide variant |
not provided [RCV003391795] |
Chr12:49051554 [GRCh38]
Chr12:49445337 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1731G>A (p.Glu577=) |
single nucleotide variant |
not provided [RCV003391796] |
Chr12:49051952 [GRCh38]
Chr12:49445735 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12708A>G (p.Ala4236=) |
single nucleotide variant |
not provided [RCV003390223] |
Chr12:49031997 [GRCh38]
Chr12:49425780 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11497C>T (p.Arg3833Trp) |
single nucleotide variant |
not provided [RCV003456806] |
Chr12:49033208 [GRCh38]
Chr12:49426991 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14623A>C (p.Ile4875Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003422438] |
Chr12:49027823 [GRCh38]
Chr12:49421606 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7601T>C (p.Met2534Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003402399] |
Chr12:49040169 [GRCh38]
Chr12:49433952 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4901C>T (p.Ala1634Val) |
single nucleotide variant |
not specified [RCV003405100] |
Chr12:49044806 [GRCh38]
Chr12:49438589 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4419-1G>C |
single nucleotide variant |
Kabuki syndrome 1 [RCV003397196] |
Chr12:49046425 [GRCh38]
Chr12:49440208 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13780G>T (p.Ala4594Ser) |
single nucleotide variant |
not provided [RCV003443971] |
Chr12:49030660 [GRCh38]
Chr12:49424443 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8432A>G (p.Gln2811Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003414275] |
Chr12:49038924 [GRCh38]
Chr12:49432707 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12583G>A (p.Gly4195Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003397447] |
Chr12:49032122 [GRCh38]
Chr12:49425905 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4354_4368del (p.Tyr1452_Cys1456del) |
deletion |
KMT2D-related condition [RCV003397455] |
Chr12:49046659..49046673 [GRCh38]
Chr12:49440442..49440456 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2210G>C (p.Arg737Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003397648] |
Chr12:49051473 [GRCh38]
Chr12:49445256 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9991C>A (p.Pro3331Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003397791] |
Chr12:49037365 [GRCh38]
Chr12:49431148 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13795_13802del (p.Ala4599fs) |
deletion |
Kabuki syndrome 1 [RCV003444032] |
Chr12:49030638..49030645 [GRCh38]
Chr12:49424421..49424428 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9959C>G (p.Ala3320Gly) |
single nucleotide variant |
KMT2D-related condition [RCV003414358]|Kabuki syndrome [RCV003753283] |
Chr12:49037397 [GRCh38]
Chr12:49431180 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12703C>G (p.Gln4235Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003416821] |
Chr12:49032002 [GRCh38]
Chr12:49425785 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2555C>A (p.Ser852Tyr) |
single nucleotide variant |
KMT2D-related condition [RCV003416856] |
Chr12:49051128 [GRCh38]
Chr12:49444911 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13729G>T (p.Ala4577Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003406114] |
Chr12:49030711 [GRCh38]
Chr12:49424494 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14085T>A (p.Ser4695Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003414370] |
Chr12:49029227 [GRCh38]
Chr12:49423010 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11895_11912del (p.Phe3966_Gln3971del) |
deletion |
KMT2D-related condition [RCV003416977] |
Chr12:49032793..49032810 [GRCh38]
Chr12:49426576..49426593 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8765G>A (p.Arg2922Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003410662] |
Chr12:49038591 [GRCh38]
Chr12:49432374 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11435_11457del (p.Gln3812fs) |
deletion |
KMT2D-related condition [RCV003402246] |
Chr12:49033248..49033270 [GRCh38]
Chr12:49427031..49427053 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11255C>T (p.Ala3752Val) |
single nucleotide variant |
KMT2D-related condition [RCV003393000] |
Chr12:49033450 [GRCh38]
Chr12:49427233 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6111C>G (p.Asp2037Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003393012] |
Chr12:49041989 [GRCh38]
Chr12:49435772 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8321G>T (p.Arg2774Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003410456] |
Chr12:49039267 [GRCh38]
Chr12:49433050 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15458G>A (p.Arg5153Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003414470] |
Chr12:49026508 [GRCh38]
Chr12:49420291 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.10486A>G (p.Thr3496Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003416999] |
Chr12:49034431 [GRCh38]
Chr12:49428214 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6943C>T (p.His2315Tyr) |
single nucleotide variant |
KMT2D-related condition [RCV003417051]|Kabuki syndrome [RCV003588906] |
Chr12:49040827 [GRCh38]
Chr12:49434610 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2790G>A (p.Met930Ile) |
single nucleotide variant |
KMT2D-related condition [RCV003404623] |
Chr12:49050893 [GRCh38]
Chr12:49444676 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.384C>G (p.His128Gln) |
single nucleotide variant |
not provided [RCV003443242] |
Chr12:49054544 [GRCh38]
Chr12:49448327 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5760A>T (p.Pro1920=) |
single nucleotide variant |
KMT2D-related condition [RCV003410559]|Kabuki syndrome [RCV003753286] |
Chr12:49042763 [GRCh38]
Chr12:49436546 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.10763A>G (p.His3588Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003402584]|Kabuki syndrome [RCV003588905] |
Chr12:49033942 [GRCh38]
Chr12:49427725 [GRCh37]
Chr12:12q13.12 |
likely pathogenic|uncertain significance |
| NM_003482.4(KMT2D):c.8042G>A (p.Arg2681Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003399724] |
Chr12:49039728 [GRCh38]
Chr12:49433511 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10690C>G (p.Leu3564Val) |
single nucleotide variant |
KMT2D-related condition [RCV003404707] |
Chr12:49034117 [GRCh38]
Chr12:49427900 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.1782_1783dup (p.Glu595fs) |
duplication |
KMT2D-related condition [RCV003394445] |
Chr12:49051899..49051900 [GRCh38]
Chr12:49445682..49445683 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9426G>T (p.Glu3142Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003399851] |
Chr12:49037930 [GRCh38]
Chr12:49431713 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3322C>T (p.Pro1108Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003427776] |
Chr12:49050266 [GRCh38]
Chr12:49444049 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7139A>G (p.Gln2380Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003402512] |
Chr12:49040631 [GRCh38]
Chr12:49434414 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14470G>C (p.Ala4824Pro) |
single nucleotide variant |
not provided [RCV003441666] |
Chr12:49028054 [GRCh38]
Chr12:49421837 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2482C>T (p.Pro828Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003427944] |
Chr12:49051201 [GRCh38]
Chr12:49444984 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9120C>G (p.Asp3040Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003402757] |
Chr12:49038236 [GRCh38]
Chr12:49432019 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4036A>T (p.Ser1346Cys) |
single nucleotide variant |
not provided [RCV003442258] |
Chr12:49048754 [GRCh38]
Chr12:49442537 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6841T>C (p.Ser2281Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003400330] |
Chr12:49040929 [GRCh38]
Chr12:49434712 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13390C>T (p.Gln4464Ter) |
single nucleotide variant |
KMT2D-related condition [RCV003420885] |
Chr12:49031315 [GRCh38]
Chr12:49425098 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6782dup (p.Gly2262fs) |
duplication |
Kabuki syndrome 1 [RCV003391173] |
Chr12:49040987..49040988 [GRCh38]
Chr12:49434770..49434771 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.9265del (p.Val3089fs) |
deletion |
KMT2D-related condition [RCV003393046] |
Chr12:49038091 [GRCh38]
Chr12:49431874 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12055C>T (p.Leu4019Phe) |
single nucleotide variant |
not provided [RCV003390224] |
Chr12:49032650 [GRCh38]
Chr12:49426433 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11093G>A (p.Gly3698Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003778385]|not provided [RCV003390225] |
Chr12:49033612 [GRCh38]
Chr12:49427395 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10323G>C (p.Gln3441His) |
single nucleotide variant |
not provided [RCV003390226] |
Chr12:49034844 [GRCh38]
Chr12:49428627 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9566G>T (p.Gly3189Val) |
single nucleotide variant |
Kabuki syndrome [RCV003588912]|not provided [RCV003390227] |
Chr12:49037790 [GRCh38]
Chr12:49431573 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.9558G>A (p.Gly3186=) |
single nucleotide variant |
not provided [RCV003390228] |
Chr12:49037798 [GRCh38]
Chr12:49431581 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9265G>A (p.Val3089Met) |
single nucleotide variant |
not provided [RCV003390229] |
Chr12:49038091 [GRCh38]
Chr12:49431874 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8988T>C (p.Asp2996=) |
single nucleotide variant |
Kabuki syndrome [RCV003753289]|not provided [RCV003390230] |
Chr12:49038368 [GRCh38]
Chr12:49432151 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6783T>C (p.Pro2261=) |
single nucleotide variant |
KMT2D-related condition [RCV003901039]|not provided [RCV003390231] |
Chr12:49040987 [GRCh38]
Chr12:49434770 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1117T>G (p.Ser373Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003828001] |
Chr12:49052705 [GRCh38]
Chr12:49446488 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1347G>T (p.Leu449=) |
single nucleotide variant |
Kabuki syndrome [RCV003849023] |
Chr12:49052336 [GRCh38]
Chr12:49446119 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11738AGC[3] (p.Gln3916_Gln3919del) |
microsatellite |
Kabuki syndrome [RCV003877896] |
Chr12:49032947..49032958 [GRCh38]
Chr12:49426730..49426741 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2063G>T (p.Arg688Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003825632] |
Chr12:49051620 [GRCh38]
Chr12:49445403 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8788C>T (p.Pro2930Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003831530] |
Chr12:49038568 [GRCh38]
Chr12:49432351 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1795C>T (p.Leu599=) |
single nucleotide variant |
Kabuki syndrome [RCV003880337] |
Chr12:49051888 [GRCh38]
Chr12:49445671 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16213C>T (p.Arg5405Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003849061] |
Chr12:49022715 [GRCh38]
Chr12:49416498 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6940A>G (p.Thr2314Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003878432] |
Chr12:49040830 [GRCh38]
Chr12:49434613 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11989C>T (p.Leu3997Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003880979] |
Chr12:49032716 [GRCh38]
Chr12:49426499 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14045C>T (p.Thr4682Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003882184] |
Chr12:49029431 [GRCh38]
Chr12:49423214 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13839+7A>G |
single nucleotide variant |
Kabuki syndrome [RCV003882238] |
Chr12:49030594 [GRCh38]
Chr12:49424377 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4855G>C (p.Gly1619Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003848987] |
Chr12:49044852 [GRCh38]
Chr12:49438635 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5064G>A (p.Lys1688=) |
single nucleotide variant |
KMT2D-related condition [RCV003981185]|Kabuki syndrome [RCV003880965] |
Chr12:49044422 [GRCh38]
Chr12:49438205 [GRCh37]
Chr12:12q13.12 |
likely benign|uncertain significance |
| NM_003482.4(KMT2D):c.14148G>A (p.Gly4716=) |
single nucleotide variant |
Kabuki syndrome [RCV003881056] |
Chr12:49029164 [GRCh38]
Chr12:49422947 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5826C>A (p.Asp1942Glu) |
single nucleotide variant |
not provided [RCV003487977] |
Chr12:49042602 [GRCh38]
Chr12:49436385 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16338+8C>G |
single nucleotide variant |
Kabuki syndrome [RCV003877139] |
Chr12:49022582 [GRCh38]
Chr12:49416365 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3906+7G>A |
single nucleotide variant |
Kabuki syndrome [RCV003882131] |
Chr12:49049675 [GRCh38]
Chr12:49443458 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3453C>A (p.Ser1151=) |
single nucleotide variant |
Kabuki syndrome [RCV003830134] |
Chr12:49050135 [GRCh38]
Chr12:49443918 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15511C>T (p.Arg5171Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003882318] |
Chr12:49026455 [GRCh38]
Chr12:49420238 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4107C>T (p.Asn1369=) |
single nucleotide variant |
Kabuki syndrome [RCV003825040] |
Chr12:49048683 [GRCh38]
Chr12:49442466 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14300G>A (p.Gly4767Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003827926] |
Chr12:49028910 [GRCh38]
Chr12:49422693 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12666A>G (p.Leu4222=) |
single nucleotide variant |
Kabuki syndrome [RCV003829131] |
Chr12:49032039 [GRCh38]
Chr12:49425822 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2305C>T (p.His769Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003879986] |
Chr12:49051378 [GRCh38]
Chr12:49445161 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7985del (p.Pro2662fs) |
deletion |
Kabuki syndrome 1 [RCV003883327] |
Chr12:49039785 [GRCh38]
Chr12:49433568 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4211A>G (p.Tyr1404Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003878021] |
Chr12:49047990 [GRCh38]
Chr12:49441773 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9009dup (p.Glu3004fs) |
duplication |
Kabuki syndrome 1 [RCV003486405] |
Chr12:49038346..49038347 [GRCh38]
Chr12:49432129..49432130 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2125C>T (p.Pro709Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003831016] |
Chr12:49051558 [GRCh38]
Chr12:49445341 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12463C>A (p.Pro4155Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003753045]|not provided [RCV003739559] |
Chr12:49032242 [GRCh38]
Chr12:49426025 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14417_14424del (p.Leu4806fs) |
deletion |
not provided [RCV003489381] |
Chr12:49028100..49028107 [GRCh38]
Chr12:49421883..49421890 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6184-13C>G |
single nucleotide variant |
Kabuki syndrome [RCV003877712] |
Chr12:49041718 [GRCh38]
Chr12:49435501 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4031T>C (p.Ile1344Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003753270] |
Chr12:49048759 [GRCh38]
Chr12:49442542 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3841G>A (p.Gly1281Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003879782] |
Chr12:49049747 [GRCh38]
Chr12:49443530 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2263C>G (p.Arg755Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003877894] |
Chr12:49051420 [GRCh38]
Chr12:49445203 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10778C>A (p.Ala3593Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003880242] |
Chr12:49033927 [GRCh38]
Chr12:49427710 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9727A>G (p.Ser3243Gly) |
single nucleotide variant |
not provided [RCV003487978] |
Chr12:49037629 [GRCh38]
Chr12:49431412 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12481G>C (p.Glu4161Gln) |
single nucleotide variant |
not provided [RCV003487979] |
Chr12:49032224 [GRCh38]
Chr12:49426007 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14965C>T (p.Arg4989Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003825215] |
Chr12:49027001 [GRCh38]
Chr12:49420784 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7011G>T (p.Gln2337His) |
single nucleotide variant |
Kabuki syndrome [RCV003825290] |
Chr12:49040759 [GRCh38]
Chr12:49434542 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2797+7G>C |
single nucleotide variant |
Kabuki syndrome [RCV003881128] |
Chr12:49050879 [GRCh38]
Chr12:49444662 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2649C>T (p.Phe883=) |
single nucleotide variant |
Kabuki syndrome [RCV003876929] |
Chr12:49051034 [GRCh38]
Chr12:49444817 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13531-12T>C |
single nucleotide variant |
Kabuki syndrome [RCV003882571] |
Chr12:49031045 [GRCh38]
Chr12:49424828 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3340G>A (p.Asp1114Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003826006] |
Chr12:49050248 [GRCh38]
Chr12:49444031 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13240A>G (p.Ser4414Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003881278] |
Chr12:49031465 [GRCh38]
Chr12:49425248 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8409C>G (p.Pro2803=) |
single nucleotide variant |
Kabuki syndrome [RCV003881306] |
Chr12:49038947 [GRCh38]
Chr12:49432730 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14122G>A (p.Ala4708Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003826167] |
Chr12:49029190 [GRCh38]
Chr12:49422973 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2174T>A (p.Leu725Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003826168] |
Chr12:49051509 [GRCh38]
Chr12:49445292 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11981A>G (p.Gln3994Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003878067] |
Chr12:49032724 [GRCh38]
Chr12:49426507 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8557C>T (p.Pro2853Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003826281] |
Chr12:49038799 [GRCh38]
Chr12:49432582 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11846AACAGCAGC[1] (p.Gln3952_Gln3954del) |
microsatellite |
KMT2D-related condition [RCV003901096]|Kabuki syndrome [RCV003753298] |
Chr12:49032842..49032850 [GRCh38]
Chr12:49426625..49426633 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11016C>T (p.Phe3672=) |
single nucleotide variant |
Kabuki syndrome [RCV003826329] |
Chr12:49033689 [GRCh38]
Chr12:49427472 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1783G>A (p.Glu595Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003827935] |
Chr12:49051900 [GRCh38]
Chr12:49445683 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5512G>C (p.Glu1838Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003880887] |
Chr12:49043384 [GRCh38]
Chr12:49437167 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5027C>G (p.Pro1676Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003849418] |
Chr12:49044459 [GRCh38]
Chr12:49438242 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2798-12C>T |
single nucleotide variant |
Kabuki syndrome [RCV003850533] |
Chr12:49050802 [GRCh38]
Chr12:49444585 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5135A>G (p.Lys1712Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003852511] |
Chr12:49044253 [GRCh38]
Chr12:49438036 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14237G>A (p.Arg4746Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003849504] |
Chr12:49029075 [GRCh38]
Chr12:49422858 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.57A>C (p.Gly19=) |
single nucleotide variant |
Kabuki syndrome [RCV003849593] |
Chr12:49055019 [GRCh38]
Chr12:49448802 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3481G>A (p.Ala1161Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003850768] |
Chr12:49050107 [GRCh38]
Chr12:49443890 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3062_3082dup (p.Leu1027_Leu1028insProProGlnCysSerProLeu) |
duplication |
Kabuki syndrome [RCV003849893] |
Chr12:49050505..49050506 [GRCh38]
Chr12:49444288..49444289 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10852G>T (p.Ala3618Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003850880] |
Chr12:49033853 [GRCh38]
Chr12:49427636 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13118G>T (p.Gly4373Val) |
single nucleotide variant |
Kabuki syndrome [RCV003835659] |
Chr12:49031587 [GRCh38]
Chr12:49425370 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10893C>T (p.Leu3631=) |
single nucleotide variant |
Kabuki syndrome [RCV003851913] |
Chr12:49033812 [GRCh38]
Chr12:49427595 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1037G>C (p.Cys346Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003849971] |
Chr12:49052990 [GRCh38]
Chr12:49446773 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11862_11879del (p.Leu3955_Gln3960del) |
deletion |
Kabuki syndrome [RCV003836316] |
Chr12:49032826..49032843 [GRCh38]
Chr12:49426609..49426626 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11586A>G (p.Gln3862=) |
single nucleotide variant |
Kabuki syndrome [RCV003851132] |
Chr12:49033119 [GRCh38]
Chr12:49426902 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2280C>T (p.His760=) |
single nucleotide variant |
Kabuki syndrome [RCV003753648] |
Chr12:49051403 [GRCh38]
Chr12:49445186 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8939C>T (p.Ala2980Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753765] |
Chr12:49038417 [GRCh38]
Chr12:49432200 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13840-13C>T |
single nucleotide variant |
Kabuki syndrome [RCV003840186] |
Chr12:49030452 [GRCh38]
Chr12:49424235 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1557C>T (p.Pro519=) |
single nucleotide variant |
Kabuki syndrome [RCV003753487] |
Chr12:49052126 [GRCh38]
Chr12:49445909 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14075+11_14075+12dup |
duplication |
Kabuki syndrome [RCV003753517] |
Chr12:49029388..49029389 [GRCh38]
Chr12:49423171..49423172 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11956T>G (p.Ser3986Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753532] |
Chr12:49032749 [GRCh38]
Chr12:49426532 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6564C>A (p.Arg2188=) |
single nucleotide variant |
Kabuki syndrome [RCV003753563] |
Chr12:49041206 [GRCh38]
Chr12:49434989 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11023A>G (p.Thr3675Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753597] |
Chr12:49033682 [GRCh38]
Chr12:49427465 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11029C>G (p.Leu3677Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753599] |
Chr12:49033676 [GRCh38]
Chr12:49427459 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10581G>T (p.Val3527=) |
single nucleotide variant |
Kabuki syndrome [RCV003753827] |
Chr12:49034226 [GRCh38]
Chr12:49428009 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3315C>T (p.Ala1105=) |
single nucleotide variant |
Kabuki syndrome [RCV003833886] |
Chr12:49050273 [GRCh38]
Chr12:49444056 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3509C>T (p.Pro1170Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753464] |
Chr12:49050079 [GRCh38]
Chr12:49443862 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14500G>A (p.Glu4834Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003753476] |
Chr12:49028024 [GRCh38]
Chr12:49421807 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3008C>T (p.Pro1003Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753676] |
Chr12:49050580 [GRCh38]
Chr12:49444363 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15480C>T (p.Asp5160=) |
single nucleotide variant |
Kabuki syndrome [RCV003753696] |
Chr12:49026486 [GRCh38]
Chr12:49420269 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6069T>C (p.Tyr2023=) |
single nucleotide variant |
Kabuki syndrome [RCV003753701] |
Chr12:49042129 [GRCh38]
Chr12:49435912 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.226C>T (p.Leu76=) |
single nucleotide variant |
Kabuki syndrome [RCV003753882] |
Chr12:49054702 [GRCh38]
Chr12:49448485 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.682C>T (p.Arg228Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753921] |
Chr12:49053633 [GRCh38]
Chr12:49447416 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3619G>A (p.Glu1207Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003753939] |
Chr12:49049969 [GRCh38]
Chr12:49443752 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10251A>G (p.Ala3417=) |
single nucleotide variant |
Kabuki syndrome [RCV003753949] |
Chr12:49034916 [GRCh38]
Chr12:49428699 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1389G>A (p.Glu463=) |
single nucleotide variant |
Kabuki syndrome [RCV003856009] |
Chr12:49052294 [GRCh38]
Chr12:49446077 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7954A>G (p.Met2652Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753981] |
Chr12:49039816 [GRCh38]
Chr12:49433599 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13551T>A (p.Pro4517=) |
single nucleotide variant |
Kabuki syndrome [RCV003754028] |
Chr12:49031013 [GRCh38]
Chr12:49424796 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10356-16C>T |
single nucleotide variant |
Kabuki syndrome [RCV003854419] |
Chr12:49034682 [GRCh38]
Chr12:49428465 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16204G>T (p.Ala5402Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754124] |
Chr12:49022724 [GRCh38]
Chr12:49416507 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3358G>A (p.Glu1120Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003752597] |
Chr12:49050230 [GRCh38]
Chr12:49444013 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2293G>C (p.Ala765Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003837048] |
Chr12:49051390 [GRCh38]
Chr12:49445173 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14076-4C>G |
single nucleotide variant |
Kabuki syndrome [RCV003752634] |
Chr12:49029240 [GRCh38]
Chr12:49423023 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2798-1G>A |
single nucleotide variant |
Kabuki syndrome [RCV003752640] |
Chr12:49050791 [GRCh38]
Chr12:49444574 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9807G>A (p.Gln3269=) |
single nucleotide variant |
Kabuki syndrome [RCV003854649] |
Chr12:49037549 [GRCh38]
Chr12:49431332 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13666A>G (p.Lys4556Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003840474] |
Chr12:49030898 [GRCh38]
Chr12:49424681 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13332A>G (p.Gly4444=) |
single nucleotide variant |
Kabuki syndrome [RCV003752755] |
Chr12:49031373 [GRCh38]
Chr12:49425156 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4929G>A (p.Gly1643=) |
single nucleotide variant |
Kabuki syndrome [RCV003752678] |
Chr12:49044778 [GRCh38]
Chr12:49438561 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4312G>A (p.Asp1438Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003754111] |
Chr12:49046715 [GRCh38]
Chr12:49440498 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12332C>T (p.Ala4111Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754314] |
Chr12:49032373 [GRCh38]
Chr12:49426156 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8230-4C>A |
single nucleotide variant |
Kabuki syndrome [RCV003754320] |
Chr12:49039362 [GRCh38]
Chr12:49433145 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2152C>G (p.Leu718Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754324] |
Chr12:49051531 [GRCh38]
Chr12:49445314 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9174C>T (p.Asp3058=) |
single nucleotide variant |
Kabuki syndrome [RCV003810939] |
Chr12:49038182 [GRCh38]
Chr12:49431965 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16104C>T (p.Phe5368=) |
single nucleotide variant |
Kabuki syndrome [RCV003852627] |
Chr12:49022824 [GRCh38]
Chr12:49416607 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11769A>G (p.Gln3923=) |
single nucleotide variant |
KMT2D-related condition [RCV003948941]|Kabuki syndrome [RCV003752785] |
Chr12:49032936 [GRCh38]
Chr12:49426719 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5645-12A>C |
single nucleotide variant |
Kabuki syndrome [RCV003752814] |
Chr12:49042890 [GRCh38]
Chr12:49436673 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14619A>G (p.Leu4873=) |
single nucleotide variant |
Kabuki syndrome [RCV003752870] |
Chr12:49027827 [GRCh38]
Chr12:49421610 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16522-16C>T |
single nucleotide variant |
Kabuki syndrome [RCV003754425] |
Chr12:49021888 [GRCh38]
Chr12:49415671 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.555C>G (p.Arg185=) |
single nucleotide variant |
Kabuki syndrome [RCV003754460] |
Chr12:49054096 [GRCh38]
Chr12:49447879 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.955-7C>T |
single nucleotide variant |
Kabuki syndrome [RCV003752879] |
Chr12:49053079 [GRCh38]
Chr12:49446862 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10508-3del |
deletion |
Kabuki syndrome [RCV003752980] |
Chr12:49034302 [GRCh38]
Chr12:49428085 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1150G>A (p.Glu384Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003753011] |
Chr12:49052672 [GRCh38]
Chr12:49446455 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6780C>T (p.Ser2260=) |
single nucleotide variant |
Kabuki syndrome [RCV003754515] |
Chr12:49040990 [GRCh38]
Chr12:49434773 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12972T>C (p.Pro4324=) |
single nucleotide variant |
Kabuki syndrome [RCV003754542] |
Chr12:49031733 [GRCh38]
Chr12:49425516 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3201G>A (p.Glu1067=) |
single nucleotide variant |
Kabuki syndrome [RCV003753024] |
Chr12:49050387 [GRCh38]
Chr12:49444170 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13361C>G (p.Pro4454Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753032] |
Chr12:49031344 [GRCh38]
Chr12:49425127 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10683T>C (p.Ala3561=) |
single nucleotide variant |
Kabuki syndrome [RCV003753039] |
Chr12:49034124 [GRCh38]
Chr12:49427907 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10526A>G (p.Gln3509Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754600] |
Chr12:49034281 [GRCh38]
Chr12:49428064 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5319+15C>G |
single nucleotide variant |
Kabuki syndrome [RCV003811051] |
Chr12:49043853 [GRCh38]
Chr12:49437636 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8001A>G (p.Pro2667=) |
single nucleotide variant |
Kabuki syndrome [RCV003753080] |
Chr12:49039769 [GRCh38]
Chr12:49433552 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2161_2175dup (p.Leu725_Leu726insGluGluSerProLeu) |
duplication |
Kabuki syndrome [RCV003754676] |
Chr12:49051507..49051508 [GRCh38]
Chr12:49445290..49445291 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9981G>A (p.Gln3327=) |
single nucleotide variant |
KMT2D-related condition [RCV003966568]|Kabuki syndrome [RCV003754689] |
Chr12:49037375 [GRCh38]
Chr12:49431158 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12206T>C (p.Leu4069Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003754724] |
Chr12:49032499 [GRCh38]
Chr12:49426282 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.766C>G (p.Leu256Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754735] |
Chr12:49053549 [GRCh38]
Chr12:49447332 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5884T>C (p.Phe1962Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754744] |
Chr12:49042314 [GRCh38]
Chr12:49436097 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3768C>T (p.Ser1256=) |
single nucleotide variant |
Kabuki syndrome [RCV003754789] |
Chr12:49049820 [GRCh38]
Chr12:49443603 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12928C>T (p.Pro4310Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754754] |
Chr12:49031777 [GRCh38]
Chr12:49425560 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14540G>A (p.Gly4847Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003754749] |
Chr12:49027906 [GRCh38]
Chr12:49421689 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3655A>G (p.Ser1219Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003833324] |
Chr12:49049933 [GRCh38]
Chr12:49443716 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13129T>C (p.Trp4377Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003856849] |
Chr12:49031576 [GRCh38]
Chr12:49425359 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6790G>C (p.Gly2264Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753365] |
Chr12:49040980 [GRCh38]
Chr12:49434763 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16052+2T>G |
single nucleotide variant |
Kabuki syndrome [RCV003754166] |
Chr12:49024576 [GRCh38]
Chr12:49418359 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.6168C>T (p.Asp2056=) |
single nucleotide variant |
Kabuki syndrome [RCV003754181] |
Chr12:49041932 [GRCh38]
Chr12:49435715 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.34G>A (p.Asp12Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003754016] |
Chr12:49055291 [GRCh38]
Chr12:49449074 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7576G>A (p.Ala2526Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003754185] |
Chr12:49040194 [GRCh38]
Chr12:49433977 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14517T>C (p.Gly4839=) |
single nucleotide variant |
Kabuki syndrome [RCV003855003] |
Chr12:49027929 [GRCh38]
Chr12:49421712 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6136A>G (p.Met2046Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754675] |
Chr12:49041964 [GRCh38]
Chr12:49435747 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2238G>A (p.Arg746=) |
single nucleotide variant |
Kabuki syndrome [RCV003754678] |
Chr12:49051445 [GRCh38]
Chr12:49445228 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13139C>A (p.Pro4380Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003840221] |
Chr12:49031566 [GRCh38]
Chr12:49425349 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15809C>T (p.Pro5270Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003752846] |
Chr12:49024922 [GRCh38]
Chr12:49418705 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1436T>C (p.Leu479Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003752911] |
Chr12:49052247 [GRCh38]
Chr12:49446030 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15659G>A (p.Arg5220His) |
single nucleotide variant |
Kabuki syndrome [RCV003752913] |
Chr12:49026307 [GRCh38]
Chr12:49420090 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1763C>T (p.Ser588Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003752920] |
Chr12:49051920 [GRCh38]
Chr12:49445703 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13839+6A>G |
single nucleotide variant |
Kabuki syndrome [RCV003752921] |
Chr12:49030595 [GRCh38]
Chr12:49424378 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11578C>G (p.Gln3860Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003753320] |
Chr12:49033127 [GRCh38]
Chr12:49426910 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.657G>C (p.Glu219Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003754204] |
Chr12:49053994 [GRCh38]
Chr12:49447777 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15921+9G>T |
single nucleotide variant |
Kabuki syndrome [RCV003754011] |
Chr12:49024801 [GRCh38]
Chr12:49418584 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9111C>T (p.His3037=) |
single nucleotide variant |
KMT2D-related condition [RCV003901265]|Kabuki syndrome [RCV003754719] |
Chr12:49038245 [GRCh38]
Chr12:49432028 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.9296G>C (p.Arg3099Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003754721] |
Chr12:49038060 [GRCh38]
Chr12:49431843 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14259A>G (p.Pro4753=) |
single nucleotide variant |
Kabuki syndrome [RCV003855537] |
Chr12:49028951 [GRCh38]
Chr12:49422734 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7199del (p.Pro2400fs) |
deletion |
Kabuki syndrome 1 [RCV003620504] |
Chr12:49040571 [GRCh38]
Chr12:49434354 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1773T>C (p.Ser591=) |
single nucleotide variant |
Kabuki syndrome [RCV003752937] |
Chr12:49051910 [GRCh38]
Chr12:49445693 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2316C>T (p.Pro772=) |
single nucleotide variant |
Kabuki syndrome [RCV003752908] |
Chr12:49051367 [GRCh38]
Chr12:49445150 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6838G>A (p.Glu2280Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003752945] |
Chr12:49040932 [GRCh38]
Chr12:49434715 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.591C>T (p.Cys197=) |
single nucleotide variant |
Kabuki syndrome [RCV003752952] |
Chr12:49054060 [GRCh38]
Chr12:49447843 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.49G>A (p.Ala17Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003752959] |
Chr12:49055276 [GRCh38]
Chr12:49449059 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15716C>T (p.Pro5239Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003752902] |
Chr12:49026250 [GRCh38]
Chr12:49420033 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6203G>A (p.Arg2068Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003753344] |
Chr12:49041686 [GRCh38]
Chr12:49435469 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13761G>A (p.Gly4587=) |
single nucleotide variant |
Kabuki syndrome [RCV003754235] |
Chr12:49030679 [GRCh38]
Chr12:49424462 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.286G>A (p.Val96Met) |
single nucleotide variant |
Kabuki syndrome [RCV003754239] |
Chr12:49054642 [GRCh38]
Chr12:49448425 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4742-12C>A |
single nucleotide variant |
Kabuki syndrome [RCV003754240] |
Chr12:49044977 [GRCh38]
Chr12:49438760 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12252_12257dup (p.Pro4086_Ser4087insGlnPro) |
duplication |
Kabuki syndrome [RCV003754006] |
Chr12:49032447..49032448 [GRCh38]
Chr12:49426230..49426231 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5668G>A (p.Asp1890Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003754260] |
Chr12:49042855 [GRCh38]
Chr12:49436638 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6987C>G (p.Ala2329=) |
single nucleotide variant |
Kabuki syndrome [RCV003754563] |
Chr12:49040783 [GRCh38]
Chr12:49434566 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10922T>G (p.Leu3641Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754625] |
Chr12:49033783 [GRCh38]
Chr12:49427566 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5708G>A (p.Arg1903Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003901314]|Kabuki syndrome [RCV003752993] |
Chr12:49042815 [GRCh38]
Chr12:49436598 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.6953G>T (p.Gly2318Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753001] |
Chr12:49040817 [GRCh38]
Chr12:49434600 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3365C>T (p.Thr1122Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003753004] |
Chr12:49050223 [GRCh38]
Chr12:49444006 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5468-6T>C |
single nucleotide variant |
Kabuki syndrome [RCV003752891] |
Chr12:49043434 [GRCh38]
Chr12:49437217 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11223_11231del (p.Gln3743_Gln3745del) |
deletion |
Kabuki syndrome [RCV003752890] |
Chr12:49033474..49033482 [GRCh38]
Chr12:49427257..49427265 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9593C>G (p.Pro3198Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753484] |
Chr12:49037763 [GRCh38]
Chr12:49431546 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6135C>G (p.Ile2045Met) |
single nucleotide variant |
Kabuki syndrome [RCV003753489] |
Chr12:49041965 [GRCh38]
Chr12:49435748 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5645-5del |
deletion |
Kabuki syndrome [RCV003753452] |
Chr12:49042883 [GRCh38]
Chr12:49436666 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11123G>A (p.Ser3708Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753496] |
Chr12:49033582 [GRCh38]
Chr12:49427365 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5083+13G>T |
single nucleotide variant |
Kabuki syndrome [RCV003753501] |
Chr12:49044390 [GRCh38]
Chr12:49438173 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5043C>G (p.Thr1681=) |
single nucleotide variant |
Kabuki syndrome [RCV003754273] |
Chr12:49044443 [GRCh38]
Chr12:49438226 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14835C>T (p.Pro4945=) |
single nucleotide variant |
Kabuki syndrome [RCV003754278] |
Chr12:49027131 [GRCh38]
Chr12:49420914 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1910C>G (p.Pro637Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754282] |
Chr12:49051773 [GRCh38]
Chr12:49445556 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3572C>G (p.Pro1191Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754284] |
Chr12:49050016 [GRCh38]
Chr12:49443799 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11214_11237dup (p.Gln3745_His3746insGlnGlnGlnGlnGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV003754134] |
Chr12:49033467..49033468 [GRCh38]
Chr12:49427250..49427251 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13929C>T (p.Thr4643=) |
single nucleotide variant |
Kabuki syndrome [RCV003752966] |
Chr12:49030350 [GRCh38]
Chr12:49424133 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12645T>C (p.Ser4215=) |
single nucleotide variant |
Kabuki syndrome [RCV003753047] |
Chr12:49032060 [GRCh38]
Chr12:49425843 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15005G>A (p.Arg5002Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003753058] |
Chr12:49026961 [GRCh38]
Chr12:49420744 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15729C>T (p.Ile5243=) |
single nucleotide variant |
Kabuki syndrome [RCV003753514] |
Chr12:49026237 [GRCh38]
Chr12:49420020 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4839A>G (p.Gln1613=) |
single nucleotide variant |
KMT2D-related condition [RCV003909066]|Kabuki syndrome [RCV003753522] |
Chr12:49044868 [GRCh38]
Chr12:49438651 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.27G>A (p.Glu9=) |
single nucleotide variant |
Kabuki syndrome [RCV003753539] |
Chr12:49055298 [GRCh38]
Chr12:49449081 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1147del (p.Asp383fs) |
deletion |
Kabuki syndrome [RCV003754316] |
Chr12:49052675 [GRCh38]
Chr12:49446458 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11695C>A (p.Gln3899Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003754788]|not provided [RCV003885364] |
Chr12:49033010 [GRCh38]
Chr12:49426793 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6267G>A (p.Lys2089=) |
single nucleotide variant |
Kabuki syndrome [RCV003754762] |
Chr12:49041503 [GRCh38]
Chr12:49435286 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5189-13G>T |
single nucleotide variant |
Kabuki syndrome [RCV003753069] |
Chr12:49044011 [GRCh38]
Chr12:49437794 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14899C>T (p.Pro4967Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753445] |
Chr12:49027067 [GRCh38]
Chr12:49420850 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6525C>T (p.Asp2175=) |
single nucleotide variant |
Kabuki syndrome [RCV003753552] |
Chr12:49041245 [GRCh38]
Chr12:49435028 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6542C>T (p.Pro2181Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753570] |
Chr12:49041228 [GRCh38]
Chr12:49435011 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8896C>T (p.Arg2966Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003753572] |
Chr12:49038460 [GRCh38]
Chr12:49432243 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9280T>C (p.Leu3094=) |
single nucleotide variant |
Kabuki syndrome [RCV003753573] |
Chr12:49038076 [GRCh38]
Chr12:49431859 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12106G>A (p.Glu4036Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003754826] |
Chr12:49032599 [GRCh38]
Chr12:49426382 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2897A>T (p.Asp966Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753439] |
Chr12:49050691 [GRCh38]
Chr12:49444474 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12863G>A (p.Arg4288Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003939190]|Kabuki syndrome [RCV003753601] |
Chr12:49031842 [GRCh38]
Chr12:49425625 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.8993A>T (p.Asp2998Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753602] |
Chr12:49038363 [GRCh38]
Chr12:49432146 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3036T>G (p.Ala1012=) |
single nucleotide variant |
Kabuki syndrome [RCV003753605] |
Chr12:49050552 [GRCh38]
Chr12:49444335 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12696G>A (p.Gln4232=) |
single nucleotide variant |
Kabuki syndrome [RCV003754364] |
Chr12:49032009 [GRCh38]
Chr12:49425792 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14570T>C (p.Leu4857Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003754782] |
Chr12:49027876 [GRCh38]
Chr12:49421659 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13974C>T (p.Ala4658=) |
single nucleotide variant |
Kabuki syndrome [RCV003753311] |
Chr12:49030305 [GRCh38]
Chr12:49424088 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14379C>T (p.Ala4793=) |
single nucleotide variant |
Kabuki syndrome [RCV003753614] |
Chr12:49028831 [GRCh38]
Chr12:49422614 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7491C>T (p.Ala2497=) |
single nucleotide variant |
Kabuki syndrome [RCV003753622] |
Chr12:49040279 [GRCh38]
Chr12:49434062 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8721C>T (p.Tyr2907=) |
single nucleotide variant |
Kabuki syndrome [RCV003754402] |
Chr12:49038635 [GRCh38]
Chr12:49432418 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13364G>C (p.Arg4455Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003754406] |
Chr12:49031341 [GRCh38]
Chr12:49425124 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5645-13C>T |
single nucleotide variant |
Kabuki syndrome [RCV003754398] |
Chr12:49042891 [GRCh38]
Chr12:49436674 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7513G>A (p.Glu2505Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003754423] |
Chr12:49040257 [GRCh38]
Chr12:49434040 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6673G>A (p.Glu2225Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003754845] |
Chr12:49041097 [GRCh38]
Chr12:49434880 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13551_13565del (p.Leu4518_Pro4522del) |
deletion |
Kabuki syndrome [RCV003753316] |
Chr12:49030999..49031013 [GRCh38]
Chr12:49424782..49424796 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15921+13C>T |
single nucleotide variant |
Kabuki syndrome [RCV003753330] |
Chr12:49024797 [GRCh38]
Chr12:49418580 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7686C>G (p.Ile2562Met) |
single nucleotide variant |
Kabuki syndrome [RCV003753343] |
Chr12:49040084 [GRCh38]
Chr12:49433867 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14251+7G>A |
single nucleotide variant |
Kabuki syndrome [RCV003753348] |
Chr12:49029054 [GRCh38]
Chr12:49422837 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13344C>T (p.His4448=) |
single nucleotide variant |
Kabuki syndrome [RCV003753356] |
Chr12:49031361 [GRCh38]
Chr12:49425144 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11727A>G (p.Gln3909=) |
single nucleotide variant |
Kabuki syndrome [RCV003753627] |
Chr12:49032978 [GRCh38]
Chr12:49426761 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10581G>A (p.Val3527=) |
single nucleotide variant |
Kabuki syndrome [RCV003753659] |
Chr12:49034226 [GRCh38]
Chr12:49428009 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14516-6C>T |
single nucleotide variant |
Kabuki syndrome [RCV003753660] |
Chr12:49027936 [GRCh38]
Chr12:49421719 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7637C>G (p.Ser2546Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753665] |
Chr12:49040133 [GRCh38]
Chr12:49433916 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5188+7C>A |
single nucleotide variant |
Kabuki syndrome [RCV003753666] |
Chr12:49044193 [GRCh38]
Chr12:49437976 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16522-12T>C |
single nucleotide variant |
Kabuki syndrome [RCV003753668] |
Chr12:49021884 [GRCh38]
Chr12:49415667 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6447G>A (p.Ser2149=) |
single nucleotide variant |
Kabuki syndrome [RCV003753680] |
Chr12:49041323 [GRCh38]
Chr12:49435106 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10232-13C>T |
single nucleotide variant |
Kabuki syndrome [RCV003753652] |
Chr12:49034948 [GRCh38]
Chr12:49428731 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12333A>T (p.Ala4111=) |
single nucleotide variant |
Kabuki syndrome [RCV003754447] |
Chr12:49032372 [GRCh38]
Chr12:49426155 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8342C>T (p.Pro2781Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754454] |
Chr12:49039246 [GRCh38]
Chr12:49433029 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8702C>T (p.Pro2901Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754455] |
Chr12:49038654 [GRCh38]
Chr12:49432437 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4690G>C (p.Val1564Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753375] |
Chr12:49046068 [GRCh38]
Chr12:49439851 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6747C>T (p.Cys2249=) |
single nucleotide variant |
Kabuki syndrome [RCV003753380] |
Chr12:49041023 [GRCh38]
Chr12:49434806 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8366+3G>A |
single nucleotide variant |
Kabuki syndrome [RCV003753381] |
Chr12:49039219 [GRCh38]
Chr12:49433002 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5949C>T (p.Thr1983=) |
single nucleotide variant |
Kabuki syndrome [RCV003753384] |
Chr12:49042249 [GRCh38]
Chr12:49436032 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2103A>C (p.Pro701=) |
single nucleotide variant |
Kabuki syndrome [RCV003753400] |
Chr12:49051580 [GRCh38]
Chr12:49445363 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7770G>A (p.Ser2590=) |
single nucleotide variant |
Kabuki syndrome [RCV003753684] |
Chr12:49040000 [GRCh38]
Chr12:49433783 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9834_9835insGAGCAG (p.Gln3278_Gln3279insGluGln) |
insertion |
Kabuki syndrome [RCV003753687] |
Chr12:49037521..49037522 [GRCh38]
Chr12:49431304..49431305 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14549C>G (p.Pro4850Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753693] |
Chr12:49027897 [GRCh38]
Chr12:49421680 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6263C>T (p.Thr2088Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003753694] |
Chr12:49041507 [GRCh38]
Chr12:49435290 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8316C>T (p.Leu2772=) |
single nucleotide variant |
Kabuki syndrome [RCV003753695] |
Chr12:49039272 [GRCh38]
Chr12:49433055 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6403T>C (p.Leu2135=) |
single nucleotide variant |
Kabuki syndrome [RCV003753706] |
Chr12:49041367 [GRCh38]
Chr12:49435150 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1076G>C (p.Arg359Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003753713] |
Chr12:49052951 [GRCh38]
Chr12:49446734 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8565G>A (p.Ala2855=) |
single nucleotide variant |
Kabuki syndrome [RCV003753871] |
Chr12:49038791 [GRCh38]
Chr12:49432574 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4914T>C (p.Asp1638=) |
single nucleotide variant |
Kabuki syndrome [RCV003753876] |
Chr12:49044793 [GRCh38]
Chr12:49438576 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13437G>A (p.Gly4479=) |
single nucleotide variant |
Kabuki syndrome [RCV003753878] |
Chr12:49031268 [GRCh38]
Chr12:49425051 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8235G>C (p.Lys2745Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753884] |
Chr12:49039353 [GRCh38]
Chr12:49433136 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15303C>T (p.Thr5101=) |
single nucleotide variant |
Kabuki syndrome [RCV003754467] |
Chr12:49026663 [GRCh38]
Chr12:49420446 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15709G>C (p.Gly5237Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754475] |
Chr12:49026257 [GRCh38]
Chr12:49420040 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1376C>A (p.Ser459Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003753412] |
Chr12:49052307 [GRCh38]
Chr12:49446090 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8096C>A (p.Thr2699Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753434] |
Chr12:49039568 [GRCh38]
Chr12:49433351 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12017T>G (p.Leu4006Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753477] |
Chr12:49032688 [GRCh38]
Chr12:49426471 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1517C>G (p.Pro506Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753720] |
Chr12:49052166 [GRCh38]
Chr12:49445949 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9012G>A (p.Glu3004=) |
single nucleotide variant |
Kabuki syndrome [RCV003753727] |
Chr12:49038344 [GRCh38]
Chr12:49432127 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7054C>A (p.Pro2352Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003753646] |
Chr12:49040716 [GRCh38]
Chr12:49434499 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4696C>T (p.Pro1566Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753907] |
Chr12:49045965 [GRCh38]
Chr12:49439748 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8047-17C>A |
single nucleotide variant |
Kabuki syndrome [RCV003753908] |
Chr12:49039634 [GRCh38]
Chr12:49433417 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15784+8del |
deletion |
Kabuki syndrome [RCV003753932] |
Chr12:49026174 [GRCh38]
Chr12:49419957 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6754C>G (p.Leu2252Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753934] |
Chr12:49041016 [GRCh38]
Chr12:49434799 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9625C>T (p.Leu3209=) |
single nucleotide variant |
Kabuki syndrome [RCV003817126] |
Chr12:49037731 [GRCh38]
Chr12:49431514 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9883A>G (p.Met3295Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753759] |
Chr12:49037473 [GRCh38]
Chr12:49431256 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8229+18G>A |
single nucleotide variant |
Kabuki syndrome [RCV003753766] |
Chr12:49039417 [GRCh38]
Chr12:49433200 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14784C>T (p.Pro4928=) |
single nucleotide variant |
Kabuki syndrome [RCV003753771] |
Chr12:49027182 [GRCh38]
Chr12:49420965 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2798-17T>C |
single nucleotide variant |
Kabuki syndrome [RCV003753777] |
Chr12:49050807 [GRCh38]
Chr12:49444590 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4402G>T (p.Gly1468Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753780] |
Chr12:49046625 [GRCh38]
Chr12:49440408 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3410C>G (p.Pro1137Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753790] |
Chr12:49050178 [GRCh38]
Chr12:49443961 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9090C>T (p.Asn3030=) |
single nucleotide variant |
Kabuki syndrome [RCV003753791] |
Chr12:49038266 [GRCh38]
Chr12:49432049 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13318del (p.Pro4439_Ile4440insTer) |
deletion |
Kabuki syndrome [RCV003753937] |
Chr12:49031387 [GRCh38]
Chr12:49425170 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1686C>T (p.Pro562=) |
single nucleotide variant |
Kabuki syndrome [RCV003753938] |
Chr12:49051997 [GRCh38]
Chr12:49445780 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13750C>T (p.Pro4584Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753940] |
Chr12:49030690 [GRCh38]
Chr12:49424473 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2637G>A (p.Glu879=) |
single nucleotide variant |
Kabuki syndrome [RCV003753941] |
Chr12:49051046 [GRCh38]
Chr12:49444829 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15774C>T (p.Ala5258=) |
single nucleotide variant |
Kabuki syndrome [RCV003753958] |
Chr12:49026192 [GRCh38]
Chr12:49419975 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8573C>G (p.Ser2858Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753960] |
Chr12:49038783 [GRCh38]
Chr12:49432566 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2203T>C (p.Cys735Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753963] |
Chr12:49051480 [GRCh38]
Chr12:49445263 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13355C>G (p.Ala4452Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003754536] |
Chr12:49031350 [GRCh38]
Chr12:49425133 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7030G>A (p.Gly2344Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003839610] |
Chr12:49040740 [GRCh38]
Chr12:49434523 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2286T>C (p.Ser762=) |
single nucleotide variant |
Kabuki syndrome [RCV003837051] |
Chr12:49051397 [GRCh38]
Chr12:49445180 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15799A>G (p.Ile5267Val) |
single nucleotide variant |
Kabuki syndrome [RCV003752609] |
Chr12:49024932 [GRCh38]
Chr12:49418715 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11906A>C (p.Gln3969Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003752616] |
Chr12:49032799 [GRCh38]
Chr12:49426582 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.366G>A (p.Glu122=) |
single nucleotide variant |
Kabuki syndrome [RCV003752617] |
Chr12:49054562 [GRCh38]
Chr12:49448345 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8358G>C (p.Val2786=) |
single nucleotide variant |
Kabuki syndrome [RCV003752645] |
Chr12:49039230 [GRCh38]
Chr12:49433013 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12061C>T (p.Leu4021=) |
single nucleotide variant |
Kabuki syndrome [RCV003752699] |
Chr12:49032644 [GRCh38]
Chr12:49426427 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8046+20C>G |
single nucleotide variant |
Kabuki syndrome [RCV003752598] |
Chr12:49039704 [GRCh38]
Chr12:49433487 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10943C>T (p.Pro3648Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003752735] |
Chr12:49033762 [GRCh38]
Chr12:49427545 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9305C>T (p.Pro3102Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753807] |
Chr12:49038051 [GRCh38]
Chr12:49431834 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1156G>A (p.Asp386Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753640] |
Chr12:49052666 [GRCh38]
Chr12:49446449 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6494C>T (p.Pro2165Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753636] |
Chr12:49041276 [GRCh38]
Chr12:49435059 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9299C>G (p.Pro3100Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753633] |
Chr12:49038057 [GRCh38]
Chr12:49431840 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6772C>A (p.Pro2258Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003753988] |
Chr12:49040998 [GRCh38]
Chr12:49434781 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2775G>T (p.Leu925Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003753991] |
Chr12:49050908 [GRCh38]
Chr12:49444691 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11864_11920del (p.Leu3955_Gln3973del) |
deletion |
Kabuki syndrome [RCV003753994] |
Chr12:49032785..49032841 [GRCh38]
Chr12:49426568..49426624 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8529_8538del (p.Glu2844fs) |
deletion |
Kabuki syndrome [RCV003754381] |
Chr12:49038818..49038827 [GRCh38]
Chr12:49432601..49432610 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13505T>C (p.Leu4502Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003754380] |
Chr12:49031200 [GRCh38]
Chr12:49424983 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2131C>A (p.Pro711Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003754500] |
Chr12:49051552 [GRCh38]
Chr12:49445335 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13335C>G (p.Thr4445=) |
single nucleotide variant |
Kabuki syndrome [RCV003754543] |
Chr12:49031370 [GRCh38]
Chr12:49425153 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2064C>T (p.Arg688=) |
single nucleotide variant |
Kabuki syndrome [RCV003839791] |
Chr12:49051619 [GRCh38]
Chr12:49445402 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3935G>A (p.Arg1312His) |
single nucleotide variant |
Kabuki syndrome [RCV003836105] |
Chr12:49049190 [GRCh38]
Chr12:49442973 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3708C>G (p.Gly1236=) |
single nucleotide variant |
Kabuki syndrome [RCV003752648] |
Chr12:49049880 [GRCh38]
Chr12:49443663 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4662C>T (p.Val1554=) |
single nucleotide variant |
Kabuki syndrome [RCV003752811] |
Chr12:49046096 [GRCh38]
Chr12:49439879 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9625C>G (p.Leu3209Val) |
single nucleotide variant |
Kabuki syndrome [RCV003752821] |
Chr12:49037731 [GRCh38]
Chr12:49431514 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1990C>G (p.Pro664Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753819] |
Chr12:49051693 [GRCh38]
Chr12:49445476 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.45G>A (p.Pro15=) |
single nucleotide variant |
Kabuki syndrome [RCV003753822] |
Chr12:49055280 [GRCh38]
Chr12:49449063 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9001A>G (p.Lys3001Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003753823] |
Chr12:49038355 [GRCh38]
Chr12:49432138 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5992T>C (p.Tyr1998His) |
single nucleotide variant |
Kabuki syndrome [RCV003754041] |
Chr12:49042206 [GRCh38]
Chr12:49435989 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1820C>T (p.Pro607Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003966556]|Kabuki syndrome [RCV003754050] |
Chr12:49051863 [GRCh38]
Chr12:49445646 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.6772C>T (p.Pro2258Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003856008] |
Chr12:49040998 [GRCh38]
Chr12:49434781 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2691G>A (p.Glu897=) |
single nucleotide variant |
KMT2D-related condition [RCV003893470]|Kabuki syndrome [RCV003833715] |
Chr12:49050992 [GRCh38]
Chr12:49444775 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.13432C>T (p.Arg4478Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003817583] |
Chr12:49031273 [GRCh38]
Chr12:49425056 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13597G>C (p.Val4533Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003752709] |
Chr12:49030967 [GRCh38]
Chr12:49424750 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1403C>T (p.Ser468Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003752650] |
Chr12:49052280 [GRCh38]
Chr12:49446063 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13204G>A (p.Val4402Met) |
single nucleotide variant |
Kabuki syndrome [RCV003752729] |
Chr12:49031501 [GRCh38]
Chr12:49425284 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14251G>A (p.Val4751Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003752731] |
Chr12:49029061 [GRCh38]
Chr12:49422844 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3422C>G (p.Pro1141Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003752732] |
Chr12:49050166 [GRCh38]
Chr12:49443949 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4693+12C>T |
single nucleotide variant |
Kabuki syndrome [RCV003752869] |
Chr12:49046053 [GRCh38]
Chr12:49439836 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4237-20G>A |
single nucleotide variant |
Kabuki syndrome [RCV003752946] |
Chr12:49046810 [GRCh38]
Chr12:49440593 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3605C>G (p.Ser1202Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003752960] |
Chr12:49049983 [GRCh38]
Chr12:49443766 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8919T>G (p.Leu2973=) |
single nucleotide variant |
Kabuki syndrome [RCV003753847] |
Chr12:49038437 [GRCh38]
Chr12:49432220 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.964G>C (p.Val322Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753854] |
Chr12:49053063 [GRCh38]
Chr12:49446846 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16110C>T (p.Gly5370=) |
single nucleotide variant |
Kabuki syndrome [RCV003753855] |
Chr12:49022818 [GRCh38]
Chr12:49416601 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1420T>C (p.Leu474=) |
single nucleotide variant |
Kabuki syndrome [RCV003754075] |
Chr12:49052263 [GRCh38]
Chr12:49446046 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7864G>A (p.Asp2622Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003815796] |
Chr12:49039906 [GRCh38]
Chr12:49433689 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15459G>T (p.Arg5153=) |
single nucleotide variant |
Kabuki syndrome [RCV003754093] |
Chr12:49026507 [GRCh38]
Chr12:49420290 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7295C>G (p.Ala2432Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003754095] |
Chr12:49040475 [GRCh38]
Chr12:49434258 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1068G>A (p.Gln356=) |
single nucleotide variant |
Kabuki syndrome [RCV003754609] |
Chr12:49052959 [GRCh38]
Chr12:49446742 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8155A>G (p.Ser2719Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003754621] |
Chr12:49039509 [GRCh38]
Chr12:49433292 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3695C>G (p.Pro1232Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003752747] |
Chr12:49049893 [GRCh38]
Chr12:49443676 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5084-3T>C |
single nucleotide variant |
Kabuki syndrome [RCV003752753] |
Chr12:49044307 [GRCh38]
Chr12:49438090 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7464G>C (p.Ser2488=) |
single nucleotide variant |
Kabuki syndrome [RCV003752701] |
Chr12:49040306 [GRCh38]
Chr12:49434089 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9837G>T (p.Gln3279His) |
single nucleotide variant |
Kabuki syndrome [RCV003752714] |
Chr12:49037519 [GRCh38]
Chr12:49431302 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3278C>T (p.Pro1093Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003835344] |
Chr12:49050310 [GRCh38]
Chr12:49444093 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10981G>A (p.Gly3661Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003752967] |
Chr12:49033724 [GRCh38]
Chr12:49427507 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5511C>T (p.Leu1837=) |
single nucleotide variant |
Kabuki syndrome [RCV003752976] |
Chr12:49043385 [GRCh38]
Chr12:49437168 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10394G>T (p.Gly3465Val) |
single nucleotide variant |
Kabuki syndrome [RCV003752979] |
Chr12:49034628 [GRCh38]
Chr12:49428411 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14578T>C (p.Phe4860Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753002] |
Chr12:49027868 [GRCh38]
Chr12:49421651 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14620G>A (p.Asp4874Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753010] |
Chr12:49027826 [GRCh38]
Chr12:49421609 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7173C>G (p.Pro2391=) |
single nucleotide variant |
Kabuki syndrome [RCV003753016] |
Chr12:49040597 [GRCh38]
Chr12:49434380 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10397C>A (p.Pro3466His) |
single nucleotide variant |
Kabuki syndrome [RCV003754103] |
Chr12:49034625 [GRCh38]
Chr12:49428408 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8558C>G (p.Pro2853Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754104] |
Chr12:49038798 [GRCh38]
Chr12:49432581 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2287C>G (p.Pro763Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003754112] |
Chr12:49051396 [GRCh38]
Chr12:49445179 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4743G>A (p.Glu1581=) |
single nucleotide variant |
Kabuki syndrome [RCV003754121] |
Chr12:49044964 [GRCh38]
Chr12:49438747 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11866C>T (p.Gln3956Ter) |
single nucleotide variant |
Kabuki syndrome [RCV003754125] |
Chr12:49032839 [GRCh38]
Chr12:49426622 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12680T>A (p.Met4227Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003754650] |
Chr12:49032025 [GRCh38]
Chr12:49425808 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1295C>T (p.Ala432Val) |
single nucleotide variant |
Kabuki syndrome [RCV003752783] |
Chr12:49052388 [GRCh38]
Chr12:49446171 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10942C>G (p.Pro3648Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003752804] |
Chr12:49033763 [GRCh38]
Chr12:49427546 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12267G>A (p.Leu4089=) |
single nucleotide variant |
Kabuki syndrome [RCV003752806] |
Chr12:49032438 [GRCh38]
Chr12:49426221 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2312C>T (p.Ser771Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003752831] |
Chr12:49051371 [GRCh38]
Chr12:49445154 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13446G>A (p.Gly4482=) |
single nucleotide variant |
Kabuki syndrome [RCV003752836] |
Chr12:49031259 [GRCh38]
Chr12:49425042 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2745G>A (p.Leu915=) |
single nucleotide variant |
Kabuki syndrome [RCV003753053] |
Chr12:49050938 [GRCh38]
Chr12:49444721 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4583+8C>T |
single nucleotide variant |
Kabuki syndrome [RCV003753078] |
Chr12:49046252 [GRCh38]
Chr12:49440035 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14740C>T (p.Pro4914Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754140] |
Chr12:49027226 [GRCh38]
Chr12:49421009 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16149dup (p.Lys5384fs) |
duplication |
Kabuki syndrome [RCV003754142] |
Chr12:49022778..49022779 [GRCh38]
Chr12:49416561..49416562 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.16499G>A (p.Arg5500Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003753312] |
Chr12:49022065 [GRCh38]
Chr12:49415848 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13702G>C (p.Ala4568Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003753314] |
Chr12:49030738 [GRCh38]
Chr12:49424521 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8929A>G (p.Asn2977Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003753334] |
Chr12:49038427 [GRCh38]
Chr12:49432210 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10833A>G (p.Gln3611=) |
single nucleotide variant |
Kabuki syndrome [RCV003753796] |
Chr12:49033872 [GRCh38]
Chr12:49427655 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7117T>G (p.Ser2373Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753641] |
Chr12:49040653 [GRCh38]
Chr12:49434436 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4692G>A (p.Val1564=) |
single nucleotide variant |
Kabuki syndrome [RCV003753632] |
Chr12:49046066 [GRCh38]
Chr12:49439849 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1382C>G (p.Pro461Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753663] |
Chr12:49052301 [GRCh38]
Chr12:49446084 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6663C>A (p.Gly2221=) |
single nucleotide variant |
Kabuki syndrome [RCV003753305] |
Chr12:49041107 [GRCh38]
Chr12:49434890 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14274T>C (p.Tyr4758=) |
single nucleotide variant |
Kabuki syndrome [RCV003754356] |
Chr12:49028936 [GRCh38]
Chr12:49422719 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2944A>G (p.Ile982Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754852] |
Chr12:49050644 [GRCh38]
Chr12:49444427 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12821T>G (p.Leu4274Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003855297] |
Chr12:49031884 [GRCh38]
Chr12:49425667 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2518C>A (p.Pro840Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003753390] |
Chr12:49051165 [GRCh38]
Chr12:49444948 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3550G>A (p.Glu1184Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003753460] |
Chr12:49050038 [GRCh38]
Chr12:49443821 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8229+14C>T |
single nucleotide variant |
Kabuki syndrome [RCV003753818] |
Chr12:49039421 [GRCh38]
Chr12:49433204 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2915C>T (p.Pro972Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753825] |
Chr12:49050673 [GRCh38]
Chr12:49444456 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7110C>G (p.Arg2370=) |
single nucleotide variant |
Kabuki syndrome [RCV003753830] |
Chr12:49040660 [GRCh38]
Chr12:49434443 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2981A>G (p.Glu994Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003753841] |
Chr12:49050607 [GRCh38]
Chr12:49444390 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10821G>A (p.Gln3607=) |
single nucleotide variant |
Kabuki syndrome [RCV003753842] |
Chr12:49033884 [GRCh38]
Chr12:49427667 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12484C>T (p.Arg4162Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003753868] |
Chr12:49032221 [GRCh38]
Chr12:49426004 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7644G>T (p.Lys2548Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003754374] |
Chr12:49040126 [GRCh38]
Chr12:49433909 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3906+15A>G |
single nucleotide variant |
Kabuki syndrome [RCV003754400] |
Chr12:49049667 [GRCh38]
Chr12:49443450 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16368C>A (p.Asn5456Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003754404] |
Chr12:49022324 [GRCh38]
Chr12:49416107 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2846C>A (p.Pro949Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003754674] |
Chr12:49050742 [GRCh38]
Chr12:49444525 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6258G>C (p.Lys2086Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753875] |
Chr12:49041512 [GRCh38]
Chr12:49435295 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11331G>A (p.Met3777Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003753880] |
Chr12:49033374 [GRCh38]
Chr12:49427157 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14462A>G (p.Glu4821Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003753883] |
Chr12:49028062 [GRCh38]
Chr12:49421845 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1277T>C (p.Leu426Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003753887] |
Chr12:49052406 [GRCh38]
Chr12:49446189 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12768C>G (p.Leu4256=) |
single nucleotide variant |
Kabuki syndrome [RCV003753901] |
Chr12:49031937 [GRCh38]
Chr12:49425720 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16155A>G (p.Ser5385=) |
single nucleotide variant |
Kabuki syndrome [RCV003754430] |
Chr12:49022773 [GRCh38]
Chr12:49416556 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.424T>C (p.Cys142Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754441] |
Chr12:49054393 [GRCh38]
Chr12:49448176 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14469C>T (p.Pro4823=) |
single nucleotide variant |
Kabuki syndrome [RCV003754702] |
Chr12:49028055 [GRCh38]
Chr12:49421838 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6953G>A (p.Gly2318Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003754703] |
Chr12:49040817 [GRCh38]
Chr12:49434600 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5722G>A (p.Gly1908Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754705] |
Chr12:49042801 [GRCh38]
Chr12:49436584 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.107C>T (p.Pro36Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753401] |
Chr12:49054969 [GRCh38]
Chr12:49448752 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7529T>C (p.Val2510Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753462] |
Chr12:49040241 [GRCh38]
Chr12:49434024 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15785-13C>T |
single nucleotide variant |
Kabuki syndrome [RCV003754865] |
Chr12:49024959 [GRCh38]
Chr12:49418742 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.33A>C (p.Lys11Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753918] |
Chr12:49055292 [GRCh38]
Chr12:49449075 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13721G>A (p.Ser4574Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753923] |
Chr12:49030719 [GRCh38]
Chr12:49424502 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9301C>A (p.Pro3101Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003753926] |
Chr12:49038055 [GRCh38]
Chr12:49431838 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4489C>T (p.His1497Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003753928] |
Chr12:49046354 [GRCh38]
Chr12:49440137 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2049A>C (p.Pro683=) |
single nucleotide variant |
Kabuki syndrome [RCV003753936] |
Chr12:49051634 [GRCh38]
Chr12:49445417 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5978_5980dup (p.Gly1993_Asp1994insGly) |
duplication |
Kabuki syndrome [RCV003754450] |
Chr12:49042217..49042218 [GRCh38]
Chr12:49436000..49436001 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3037T>G (p.Ser1013Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003754708] |
Chr12:49050551 [GRCh38]
Chr12:49444334 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14302A>T (p.Lys4768Ter) |
single nucleotide variant |
Kabuki syndrome [RCV003754718] |
Chr12:49028908 [GRCh38]
Chr12:49422691 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12876A>T (p.Pro4292=) |
single nucleotide variant |
KMT2D-related condition [RCV003901266]|Kabuki syndrome [RCV003754720] |
Chr12:49031829 [GRCh38]
Chr12:49425612 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10441-16G>T |
single nucleotide variant |
Kabuki syndrome [RCV003753528] |
Chr12:49034492 [GRCh38]
Chr12:49428275 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16052+5G>A |
single nucleotide variant |
Kabuki syndrome [RCV003837805] |
Chr12:49024573 [GRCh38]
Chr12:49418356 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10697T>G (p.Leu3566Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753544] |
Chr12:49034110 [GRCh38]
Chr12:49427893 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1660T>C (p.Leu554=) |
single nucleotide variant |
Kabuki syndrome [RCV003752657] |
Chr12:49052023 [GRCh38]
Chr12:49445806 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6580C>G (p.Pro2194Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003752679] |
Chr12:49041190 [GRCh38]
Chr12:49434973 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13477A>G (p.Ser4493Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003752750] |
Chr12:49031228 [GRCh38]
Chr12:49425011 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6420C>G (p.Asp2140Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003752756] |
Chr12:49041350 [GRCh38]
Chr12:49435133 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8151A>C (p.Pro2717=) |
single nucleotide variant |
Kabuki syndrome [RCV003752683] |
Chr12:49039513 [GRCh38]
Chr12:49433296 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11539C>G (p.Leu3847Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753947] |
Chr12:49033166 [GRCh38]
Chr12:49426949 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.954+7G>A |
single nucleotide variant |
Kabuki syndrome [RCV003753951] |
Chr12:49053200 [GRCh38]
Chr12:49446983 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11214G>A (p.Gln3738=) |
single nucleotide variant |
Kabuki syndrome [RCV003753373] |
Chr12:49033491 [GRCh38]
Chr12:49427274 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11566C>G (p.Gln3856Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003753303] |
Chr12:49033139 [GRCh38]
Chr12:49426922 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7502G>A (p.Gly2501Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003753407] |
Chr12:49040268 [GRCh38]
Chr12:49434051 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9153A>G (p.Ala3051=) |
single nucleotide variant |
Kabuki syndrome [RCV003753421] |
Chr12:49038203 [GRCh38]
Chr12:49431986 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2193G>A (p.Glu731=) |
single nucleotide variant |
Kabuki syndrome [RCV003754559] |
Chr12:49051490 [GRCh38]
Chr12:49445273 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13912A>T (p.Met4638Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754593] |
Chr12:49030367 [GRCh38]
Chr12:49424150 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9834_9848del (p.Gln3278_Gln3282del) |
deletion |
Kabuki syndrome [RCV003753657] |
Chr12:49037508..49037522 [GRCh38]
Chr12:49431291..49431305 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2291A>G (p.Gln764Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003837049] |
Chr12:49051392 [GRCh38]
Chr12:49445175 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12813A>G (p.Thr4271=) |
single nucleotide variant |
Kabuki syndrome [RCV003752763] |
Chr12:49031892 [GRCh38]
Chr12:49425675 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9769AAG[1] (p.Lys3258del) |
microsatellite |
Kabuki syndrome [RCV003752765] |
Chr12:49037582..49037584 [GRCh38]
Chr12:49431365..49431367 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11994C>T (p.Gly3998=) |
single nucleotide variant |
Kabuki syndrome [RCV003752778] |
Chr12:49032711 [GRCh38]
Chr12:49426494 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5357G>C (p.Arg1786Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003752832] |
Chr12:49043745 [GRCh38]
Chr12:49437528 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1856C>T (p.Pro619Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754025] |
Chr12:49051827 [GRCh38]
Chr12:49445610 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13501A>G (p.Lys4501Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003754027] |
Chr12:49031204 [GRCh38]
Chr12:49424987 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12496A>T (p.Asn4166Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003754029] |
Chr12:49032209 [GRCh38]
Chr12:49425992 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6526C>T (p.Pro2176Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753465] |
Chr12:49041244 [GRCh38]
Chr12:49435027 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1556C>G (p.Pro519Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753451] |
Chr12:49052127 [GRCh38]
Chr12:49445910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4751A>G (p.Tyr1584Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003837806] |
Chr12:49044956 [GRCh38]
Chr12:49438739 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4419-11G>A |
single nucleotide variant |
Kabuki syndrome [RCV003753821] |
Chr12:49046435 [GRCh38]
Chr12:49440218 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11766_11825dup (p.Gln3945_Gln3946insLeuGlnGlnGlnGlnLeuGlnGlnGlnGlnGlnGlnGlnGlnLeuGlnGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV003753839] |
Chr12:49032879..49032880 [GRCh38]
Chr12:49426662..49426663 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11011C>G (p.Pro3671Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753870] |
Chr12:49033694 [GRCh38]
Chr12:49427477 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8641C>T (p.Arg2881Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003753879] |
Chr12:49038715 [GRCh38]
Chr12:49432498 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13423A>G (p.Ser4475Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003753891] |
Chr12:49031282 [GRCh38]
Chr12:49425065 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14698A>G (p.Asn4900Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003753898] |
Chr12:49027268 [GRCh38]
Chr12:49421051 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13531-19A>G |
single nucleotide variant |
Kabuki syndrome [RCV003753763] |
Chr12:49031052 [GRCh38]
Chr12:49424835 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10356-3C>T |
single nucleotide variant |
Kabuki syndrome [RCV003753770] |
Chr12:49034669 [GRCh38]
Chr12:49428452 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12509_12510inv (p.Pro4170Leu) |
inversion |
Kabuki syndrome [RCV003753789] |
Chr12:49032195..49032196 [GRCh38]
Chr12:49425978..49425979 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8555C>A (p.Ser2852Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003851060] |
Chr12:49038801 [GRCh38]
Chr12:49432584 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15922-1G>A |
single nucleotide variant |
Kabuki syndrome [RCV003814573] |
Chr12:49024709 [GRCh38]
Chr12:49418492 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.16145A>T (p.His5382Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003752922] |
Chr12:49022783 [GRCh38]
Chr12:49416566 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6606T>C (p.Pro2202=) |
single nucleotide variant |
Kabuki syndrome [RCV003752906] |
Chr12:49041164 [GRCh38]
Chr12:49434947 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12204A>T (p.Ser4068=) |
single nucleotide variant |
Kabuki syndrome [RCV003754036] |
Chr12:49032501 [GRCh38]
Chr12:49426284 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6941C>T (p.Thr2314Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003754037] |
Chr12:49040829 [GRCh38]
Chr12:49434612 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14644-12A>G |
single nucleotide variant |
Kabuki syndrome [RCV003754061] |
Chr12:49027334 [GRCh38]
Chr12:49421117 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2007T>G (p.Ser669=) |
single nucleotide variant |
Kabuki syndrome [RCV003754062] |
Chr12:49051676 [GRCh38]
Chr12:49445459 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12180T>C (p.Thr4060=) |
single nucleotide variant |
Kabuki syndrome [RCV003753576] |
Chr12:49032525 [GRCh38]
Chr12:49426308 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9787A>C (p.Lys3263Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003753595] |
Chr12:49037569 [GRCh38]
Chr12:49431352 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1928C>G (p.Pro643Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753596] |
Chr12:49051755 [GRCh38]
Chr12:49445538 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1112+4A>C |
single nucleotide variant |
Kabuki syndrome [RCV003753478] |
Chr12:49052911 [GRCh38]
Chr12:49446694 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9244C>T (p.Arg3082Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003753574] |
Chr12:49038112 [GRCh38]
Chr12:49431895 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2752T>G (p.Ser918Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753656] |
Chr12:49050931 [GRCh38]
Chr12:49444714 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2011_2012delinsAC (p.Leu671Thr) |
indel |
Kabuki syndrome [RCV003753662] |
Chr12:49051671..49051672 [GRCh38]
Chr12:49445454..49445455 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.546C>T (p.Ile182=) |
single nucleotide variant |
Kabuki syndrome [RCV003753955] |
Chr12:49054105 [GRCh38]
Chr12:49447888 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9902G>A (p.Gly3301Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003753630] |
Chr12:49037454 [GRCh38]
Chr12:49431237 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7400A>C (p.His2467Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003813807] |
Chr12:49040370 [GRCh38]
Chr12:49434153 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14707G>A (p.Val4903Met) |
single nucleotide variant |
Kabuki syndrome [RCV003753018] |
Chr12:49027259 [GRCh38]
Chr12:49421042 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14444A>G (p.Tyr4815Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753019] |
Chr12:49028080 [GRCh38]
Chr12:49421863 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4046G>A (p.Ser1349Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753021] |
Chr12:49048744 [GRCh38]
Chr12:49442527 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2249C>T (p.Pro750Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753054] |
Chr12:49051434 [GRCh38]
Chr12:49445217 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15182A>G (p.Asn5061Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003815780] |
Chr12:49026784 [GRCh38]
Chr12:49420567 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16413-5C>G |
single nucleotide variant |
Kabuki syndrome [RCV003754083] |
Chr12:49022156 [GRCh38]
Chr12:49415939 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14585C>T (p.Ala4862Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754097] |
Chr12:49027861 [GRCh38]
Chr12:49421644 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15537T>C (p.Arg5179=) |
single nucleotide variant |
Kabuki syndrome [RCV003753690] |
Chr12:49026429 [GRCh38]
Chr12:49420212 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4927G>A (p.Gly1643Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753723] |
Chr12:49044780 [GRCh38]
Chr12:49438563 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7362C>G (p.Pro2454=) |
single nucleotide variant |
Kabuki syndrome [RCV003753734] |
Chr12:49040408 [GRCh38]
Chr12:49434191 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14643+13G>C |
single nucleotide variant |
Kabuki syndrome [RCV003753737] |
Chr12:49027790 [GRCh38]
Chr12:49421573 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10508-8T>C |
single nucleotide variant |
Kabuki syndrome [RCV003753744] |
Chr12:49034307 [GRCh38]
Chr12:49428090 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3352C>A (p.Leu1118Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003754080] |
Chr12:49050236 [GRCh38]
Chr12:49444019 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1562C>T (p.Ser521Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003754128] |
Chr12:49052121 [GRCh38]
Chr12:49445904 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15985C>T (p.Leu5329=) |
single nucleotide variant |
Kabuki syndrome [RCV003754143] |
Chr12:49024645 [GRCh38]
Chr12:49418428 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8849C>G (p.Pro2950Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754017] |
Chr12:49038507 [GRCh38]
Chr12:49432290 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.900T>A (p.Thr300=) |
single nucleotide variant |
Kabuki syndrome [RCV003752710] |
Chr12:49053261 [GRCh38]
Chr12:49447044 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6841T>A (p.Ser2281Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003752767] |
Chr12:49040929 [GRCh38]
Chr12:49434712 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16581T>C (p.Cys5527=) |
single nucleotide variant |
Kabuki syndrome [RCV003752768] |
Chr12:49021813 [GRCh38]
Chr12:49415596 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10440+10C>G |
single nucleotide variant |
Kabuki syndrome [RCV003752772] |
Chr12:49034572 [GRCh38]
Chr12:49428355 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1026C>A (p.Asn342Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003837221] |
Chr12:49053001 [GRCh38]
Chr12:49446784 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13863A>G (p.Thr4621=) |
single nucleotide variant |
Kabuki syndrome [RCV003752775] |
Chr12:49030416 [GRCh38]
Chr12:49424199 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7835C>G (p.Pro2612Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754098] |
Chr12:49039935 [GRCh38]
Chr12:49433718 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9046G>A (p.Val3016Met) |
single nucleotide variant |
Kabuki syndrome [RCV003754122] |
Chr12:49038310 [GRCh38]
Chr12:49432093 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7796G>T (p.Gly2599Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753637] |
Chr12:49039974 [GRCh38]
Chr12:49433757 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4963G>T (p.Gly1655Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003753811] |
Chr12:49044744 [GRCh38]
Chr12:49438527 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1101G>C (p.Pro367=) |
single nucleotide variant |
Kabuki syndrome [RCV003753812] |
Chr12:49052926 [GRCh38]
Chr12:49446709 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8924G>T (p.Arg2975Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754464] |
Chr12:49038432 [GRCh38]
Chr12:49432215 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14951G>A (p.Gly4984Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003754471] |
Chr12:49027015 [GRCh38]
Chr12:49420798 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7647C>T (p.Pro2549=) |
single nucleotide variant |
Kabuki syndrome [RCV003754164] |
Chr12:49040123 [GRCh38]
Chr12:49433906 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9522T>C (p.Ser3174=) |
single nucleotide variant |
Kabuki syndrome [RCV003754216] |
Chr12:49037834 [GRCh38]
Chr12:49431617 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5235A>G (p.Leu1745=) |
single nucleotide variant |
Kabuki syndrome [RCV003754259] |
Chr12:49043952 [GRCh38]
Chr12:49437735 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15796C>T (p.Arg5266Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003851139] |
Chr12:49024935 [GRCh38]
Chr12:49418718 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11223_11228del (p.Gln3744_Gln3745del) |
deletion |
Kabuki syndrome [RCV003752803] |
Chr12:49033477..49033482 [GRCh38]
Chr12:49427260..49427265 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9856C>T (p.Leu3286=) |
single nucleotide variant |
Kabuki syndrome [RCV003752826] |
Chr12:49037500 [GRCh38]
Chr12:49431283 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5783-19G>A |
single nucleotide variant |
Kabuki syndrome [RCV003752847] |
Chr12:49042664 [GRCh38]
Chr12:49436447 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13309G>A (p.Gly4437Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003752850] |
Chr12:49031396 [GRCh38]
Chr12:49425179 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4880A>C (p.Glu1627Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003753391] |
Chr12:49044827 [GRCh38]
Chr12:49438610 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.400+9G>A |
single nucleotide variant |
Kabuki syndrome [RCV003754146] |
Chr12:49054519 [GRCh38]
Chr12:49448302 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4440T>C (p.Cys1480=) |
single nucleotide variant |
Kabuki syndrome [RCV003754153] |
Chr12:49046403 [GRCh38]
Chr12:49440186 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2388T>G (p.His796Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003754480] |
Chr12:49051295 [GRCh38]
Chr12:49445078 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8046+13_8046+15dup |
duplication |
Kabuki syndrome [RCV003754492] |
Chr12:49039708..49039709 [GRCh38]
Chr12:49433491..49433492 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8907G>T (p.Ser2969=) |
single nucleotide variant |
Kabuki syndrome [RCV003754391] |
Chr12:49038449 [GRCh38]
Chr12:49432232 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7913T>C (p.Ile2638Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003754272] |
Chr12:49039857 [GRCh38]
Chr12:49433640 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13072G>A (p.Val4358Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003754086] |
Chr12:49031633 [GRCh38]
Chr12:49425416 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1144_1145delinsGA (p.Thr382Asp) |
indel |
Kabuki syndrome [RCV003754317] |
Chr12:49052677..49052678 [GRCh38]
Chr12:49446460..49446461 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15134G>A (p.Gly5045Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003754341] |
Chr12:49026832 [GRCh38]
Chr12:49420615 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12204A>G (p.Ser4068=) |
single nucleotide variant |
Kabuki syndrome [RCV003852306] |
Chr12:49032501 [GRCh38]
Chr12:49426284 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10507+20G>A |
single nucleotide variant |
Kabuki syndrome [RCV003752861] |
Chr12:49034390 [GRCh38]
Chr12:49428173 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11843_11851del (p.Leu3948_Gln3950del) |
deletion |
Kabuki syndrome [RCV003752880] |
Chr12:49032854..49032862 [GRCh38]
Chr12:49426637..49426645 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13530+16A>G |
single nucleotide variant |
Kabuki syndrome [RCV003752914] |
Chr12:49031159 [GRCh38]
Chr12:49424942 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5219C>T (p.Ala1740Val) |
single nucleotide variant |
Kabuki syndrome [RCV003752936] |
Chr12:49043968 [GRCh38]
Chr12:49437751 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.217G>C (p.Glu73Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003752948] |
Chr12:49054711 [GRCh38]
Chr12:49448494 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15177C>T (p.His5059=) |
single nucleotide variant |
Kabuki syndrome [RCV003753486] |
Chr12:49026789 [GRCh38]
Chr12:49420572 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13606C>G (p.Arg4536Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003753493] |
Chr12:49030958 [GRCh38]
Chr12:49424741 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5644+20C>A |
single nucleotide variant |
Kabuki syndrome [RCV003754189] |
Chr12:49043056 [GRCh38]
Chr12:49436839 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12425G>A (p.Gly4142Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003754193] |
Chr12:49032280 [GRCh38]
Chr12:49426063 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4237-7G>A |
single nucleotide variant |
Kabuki syndrome [RCV003754504] |
Chr12:49046797 [GRCh38]
Chr12:49440580 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12306G>A (p.Gln4102=) |
single nucleotide variant |
Kabuki syndrome [RCV003754518] |
Chr12:49032399 [GRCh38]
Chr12:49426182 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11911C>G (p.Gln3971Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003754360] |
Chr12:49032794 [GRCh38]
Chr12:49426577 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15166C>G (p.Leu5056Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754363] |
Chr12:49026800 [GRCh38]
Chr12:49420583 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11727A>C (p.Gln3909His) |
single nucleotide variant |
Kabuki syndrome [RCV003850467] |
Chr12:49032978 [GRCh38]
Chr12:49426761 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8999A>G (p.His3000Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003851307] |
Chr12:49038357 [GRCh38]
Chr12:49432140 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7464G>T (p.Ser2488=) |
single nucleotide variant |
Kabuki syndrome [RCV003752903] |
Chr12:49040306 [GRCh38]
Chr12:49434089 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11687C>G (p.Ser3896Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003752988] |
Chr12:49033018 [GRCh38]
Chr12:49426801 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11671G>T (p.Ala3891Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753005] |
Chr12:49033034 [GRCh38]
Chr12:49426817 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2951C>T (p.Pro984Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003753512] |
Chr12:49050637 [GRCh38]
Chr12:49444420 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2501C>T (p.Ser834Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003753516] |
Chr12:49051182 [GRCh38]
Chr12:49444965 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6633G>A (p.Met2211Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003753523] |
Chr12:49041137 [GRCh38]
Chr12:49434920 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5733C>T (p.Thr1911=) |
single nucleotide variant |
Kabuki syndrome [RCV003753450] |
Chr12:49042790 [GRCh38]
Chr12:49436573 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4678G>A (p.Val1560Met) |
single nucleotide variant |
Kabuki syndrome [RCV003753447] |
Chr12:49046080 [GRCh38]
Chr12:49439863 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3907-6A>T |
single nucleotide variant |
Kabuki syndrome [RCV003753559] |
Chr12:49049224 [GRCh38]
Chr12:49443007 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6398C>T (p.Ala2133Val) |
single nucleotide variant |
Kabuki syndrome [RCV003752605] |
Chr12:49041372 [GRCh38]
Chr12:49435155 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2289G>C (p.Pro763=) |
single nucleotide variant |
Kabuki syndrome [RCV003837050] |
Chr12:49051394 [GRCh38]
Chr12:49445177 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5066G>A (p.Arg1689His) |
single nucleotide variant |
Kabuki syndrome [RCV003754213] |
Chr12:49044420 [GRCh38]
Chr12:49438203 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6637G>A (p.Gly2213Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754218] |
Chr12:49041133 [GRCh38]
Chr12:49434916 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12943C>G (p.Gln4315Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003754526] |
Chr12:49031762 [GRCh38]
Chr12:49425545 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6829C>G (p.Pro2277Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003754738] |
Chr12:49040941 [GRCh38]
Chr12:49434724 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12129A>G (p.Thr4043=) |
single nucleotide variant |
Kabuki syndrome [RCV003855165] |
Chr12:49032576 [GRCh38]
Chr12:49426359 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6126C>G (p.Cys2042Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003754775] |
Chr12:49041974 [GRCh38]
Chr12:49435757 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3706G>A (p.Gly1236Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754769] |
Chr12:49049882 [GRCh38]
Chr12:49443665 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.902T>A (p.Phe301Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003851917] |
Chr12:49053259 [GRCh38]
Chr12:49447042 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7749C>T (p.Ala2583=) |
single nucleotide variant |
Kabuki syndrome [RCV003850528] |
Chr12:49040021 [GRCh38]
Chr12:49433804 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9621C>T (p.Ser3207=) |
single nucleotide variant |
Kabuki syndrome [RCV003850532] |
Chr12:49037735 [GRCh38]
Chr12:49431518 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8510T>C (p.Phe2837Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753013] |
Chr12:49038846 [GRCh38]
Chr12:49432629 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16461A>G (p.Thr5487=) |
single nucleotide variant |
Kabuki syndrome [RCV003753036] |
Chr12:49022103 [GRCh38]
Chr12:49415886 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10151C>A (p.Thr3384Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003753037] |
Chr12:49037205 [GRCh38]
Chr12:49430988 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1112+14A>G |
single nucleotide variant |
Kabuki syndrome [RCV003753040] |
Chr12:49052901 [GRCh38]
Chr12:49446684 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2913A>C (p.Ser971=) |
single nucleotide variant |
Kabuki syndrome [RCV003753568] |
Chr12:49050675 [GRCh38]
Chr12:49444458 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8429T>C (p.Leu2810Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753607] |
Chr12:49038927 [GRCh38]
Chr12:49432710 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16434C>T (p.Ala5478=) |
single nucleotide variant |
Kabuki syndrome [RCV003753609] |
Chr12:49022130 [GRCh38]
Chr12:49415913 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14349A>G (p.Ser4783=) |
single nucleotide variant |
Kabuki syndrome [RCV003752737] |
Chr12:49028861 [GRCh38]
Chr12:49422644 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2200C>G (p.Leu734Val) |
single nucleotide variant |
Kabuki syndrome [RCV003752754] |
Chr12:49051483 [GRCh38]
Chr12:49445266 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6799A>C (p.Lys2267Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003752666] |
Chr12:49040971 [GRCh38]
Chr12:49434754 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8230-11G>T |
single nucleotide variant |
Kabuki syndrome [RCV003837195] |
Chr12:49039369 [GRCh38]
Chr12:49433152 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12878C>G (p.Pro4293Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754242] |
Chr12:49031827 [GRCh38]
Chr12:49425610 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14520G>A (p.Gly4840=) |
single nucleotide variant |
Kabuki syndrome [RCV003754263] |
Chr12:49027926 [GRCh38]
Chr12:49421709 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3304T>C (p.Ser1102Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003754540] |
Chr12:49050284 [GRCh38]
Chr12:49444067 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1113-18C>G |
single nucleotide variant |
Kabuki syndrome [RCV003754378] |
Chr12:49052727 [GRCh38]
Chr12:49446510 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14874A>G (p.Ser4958=) |
single nucleotide variant |
Kabuki syndrome [RCV003754377] |
Chr12:49027092 [GRCh38]
Chr12:49420875 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12077A>G (p.Gln4026Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754376] |
Chr12:49032628 [GRCh38]
Chr12:49426411 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15249C>G (p.Ala5083=) |
single nucleotide variant |
Kabuki syndrome [RCV003754444] |
Chr12:49026717 [GRCh38]
Chr12:49420500 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2837C>T (p.Ala946Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754790] |
Chr12:49050751 [GRCh38]
Chr12:49444534 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10938G>A (p.Gly3646=) |
single nucleotide variant |
Kabuki syndrome [RCV003753046] |
Chr12:49033767 [GRCh38]
Chr12:49427550 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10967G>A (p.Arg3656His) |
single nucleotide variant |
Kabuki syndrome [RCV003753543] |
Chr12:49033738 [GRCh38]
Chr12:49427521 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7548C>G (p.Pro2516=) |
single nucleotide variant |
Kabuki syndrome [RCV003753615] |
Chr12:49040222 [GRCh38]
Chr12:49434005 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9807G>T (p.Gln3269His) |
single nucleotide variant |
Kabuki syndrome [RCV003753626] |
Chr12:49037549 [GRCh38]
Chr12:49431332 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4624G>C (p.Asp1542His) |
single nucleotide variant |
Kabuki syndrome [RCV003752776] |
Chr12:49046134 [GRCh38]
Chr12:49439917 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7324C>T (p.Pro2442Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003752784] |
Chr12:49040446 [GRCh38]
Chr12:49434229 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8204G>A (p.Gly2735Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003752862] |
Chr12:49039460 [GRCh38]
Chr12:49433243 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7964C>G (p.Ser2655Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003752866] |
Chr12:49039806 [GRCh38]
Chr12:49433589 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6110-17C>T |
single nucleotide variant |
Kabuki syndrome [RCV003752871] |
Chr12:49042007 [GRCh38]
Chr12:49435790 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13302G>A (p.Glu4434=) |
single nucleotide variant |
Kabuki syndrome [RCV003752876] |
Chr12:49031403 [GRCh38]
Chr12:49425186 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8075G>A (p.Arg2692Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003752883] |
Chr12:49039589 [GRCh38]
Chr12:49433372 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16376A>G (p.His5459Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754812] |
Chr12:49022316 [GRCh38]
Chr12:49416099 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8479A>G (p.Thr2827Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003754820] |
Chr12:49038877 [GRCh38]
Chr12:49432660 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15635C>T (p.Ala5212Val) |
single nucleotide variant |
Kabuki syndrome [RCV003754823] |
Chr12:49026331 [GRCh38]
Chr12:49420114 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12170C>T (p.Ser4057Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003834128] |
Chr12:49032535 [GRCh38]
Chr12:49426318 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8005A>G (p.Met2669Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753083] |
Chr12:49039765 [GRCh38]
Chr12:49433548 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14277G>T (p.Gly4759=) |
single nucleotide variant |
Kabuki syndrome [RCV003753679] |
Chr12:49028933 [GRCh38]
Chr12:49422716 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3493C>T (p.Pro1165Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003753688] |
Chr12:49050095 [GRCh38]
Chr12:49443878 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16117A>C (p.Asn5373His) |
single nucleotide variant |
Kabuki syndrome [RCV003753689] |
Chr12:49022811 [GRCh38]
Chr12:49416594 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7832G>A (p.Arg2611His) |
single nucleotide variant |
Kabuki syndrome [RCV003753697] |
Chr12:49039938 [GRCh38]
Chr12:49433721 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13182G>A (p.Leu4394=) |
single nucleotide variant |
Kabuki syndrome [RCV003753698] |
Chr12:49031523 [GRCh38]
Chr12:49425306 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12302A>C (p.Gln4101Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003753712] |
Chr12:49032403 [GRCh38]
Chr12:49426186 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12487C>T (p.Pro4163Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003752931] |
Chr12:49032218 [GRCh38]
Chr12:49426001 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10506C>G (p.Ile3502Met) |
single nucleotide variant |
Kabuki syndrome [RCV003752941] |
Chr12:49034411 [GRCh38]
Chr12:49428194 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9910C>G (p.Pro3304Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003752947] |
Chr12:49037446 [GRCh38]
Chr12:49431229 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2949C>T (p.Ser983=) |
single nucleotide variant |
Kabuki syndrome [RCV003752953] |
Chr12:49050639 [GRCh38]
Chr12:49444422 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8420C>T (p.Ser2807Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003752897] |
Chr12:49038936 [GRCh38]
Chr12:49432719 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8642G>A (p.Arg2881Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003752989] |
Chr12:49038714 [GRCh38]
Chr12:49432497 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13004_13007del (p.Gln4335fs) |
deletion |
Kabuki syndrome [RCV003754321] |
Chr12:49031698..49031701 [GRCh38]
Chr12:49425481..49425484 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.12245C>T (p.Pro4082Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754585] |
Chr12:49032460 [GRCh38]
Chr12:49426243 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3504C>A (p.Val1168=) |
single nucleotide variant |
Kabuki syndrome [RCV003754594] |
Chr12:49050084 [GRCh38]
Chr12:49443867 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5755A>T (p.Thr1919Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754599] |
Chr12:49042768 [GRCh38]
Chr12:49436551 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8399A>G (p.Gln2800Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754607] |
Chr12:49038957 [GRCh38]
Chr12:49432740 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14095A>G (p.Ser4699Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003754829] |
Chr12:49029217 [GRCh38]
Chr12:49423000 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8370_8371delinsCA (p.Gln2790_Leu2791delinsHisMet) |
indel |
Kabuki syndrome [RCV003754834] |
Chr12:49038985..49038986 [GRCh38]
Chr12:49432768..49432769 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6880dup (p.Ala2294fs) |
duplication |
Kabuki syndrome [RCV003754837] |
Chr12:49040889..49040890 [GRCh38]
Chr12:49434672..49434673 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.7555G>T (p.Val2519Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003813854] |
Chr12:49040215 [GRCh38]
Chr12:49433998 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14711G>A (p.Arg4904Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003813942] |
Chr12:49027255 [GRCh38]
Chr12:49421038 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5462A>G (p.Gln1821Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753735] |
Chr12:49043640 [GRCh38]
Chr12:49437423 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12999G>C (p.Glu4333Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003753738] |
Chr12:49031706 [GRCh38]
Chr12:49425489 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7872C>T (p.Ser2624=) |
single nucleotide variant |
Kabuki syndrome [RCV003753743] |
Chr12:49039898 [GRCh38]
Chr12:49433681 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.521A>G (p.His174Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003753750] |
Chr12:49054130 [GRCh38]
Chr12:49447913 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8291G>T (p.Gly2764Val) |
single nucleotide variant |
Kabuki syndrome [RCV003753756] |
Chr12:49039297 [GRCh38]
Chr12:49433080 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10355+10_10355+11del |
deletion |
KMT2D-related condition [RCV003893351]|Kabuki syndrome [RCV003753760] |
Chr12:49034801..49034802 [GRCh38]
Chr12:49428584..49428585 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5757G>A (p.Thr1919=) |
single nucleotide variant |
Kabuki syndrome [RCV003753768] |
Chr12:49042766 [GRCh38]
Chr12:49436549 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5043C>T (p.Thr1681=) |
single nucleotide variant |
Kabuki syndrome [RCV003753775] |
Chr12:49044443 [GRCh38]
Chr12:49438226 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14382+9T>C |
single nucleotide variant |
Kabuki syndrome [RCV003752892] |
Chr12:49028819 [GRCh38]
Chr12:49422602 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13825C>G (p.Gln4609Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003753077] |
Chr12:49030615 [GRCh38]
Chr12:49424398 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8302A>G (p.Ser2768Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003754332] |
Chr12:49039286 [GRCh38]
Chr12:49433069 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11906A>G (p.Gln3969Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003754214] |
Chr12:49032799 [GRCh38]
Chr12:49426582 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.16002C>T (p.Asn5334=) |
single nucleotide variant |
Kabuki syndrome [RCV003854938] |
Chr12:49024628 [GRCh38]
Chr12:49418411 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6859G>T (p.Val2287Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754613] |
Chr12:49040911 [GRCh38]
Chr12:49434694 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15185G>C (p.Cys5062Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003754576] |
Chr12:49026781 [GRCh38]
Chr12:49420564 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.5280G>A (p.Lys1760=) |
single nucleotide variant |
Kabuki syndrome [RCV003754751] |
Chr12:49043907 [GRCh38]
Chr12:49437690 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12544G>T (p.Gly4182Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003754748] |
Chr12:49032161 [GRCh38]
Chr12:49425944 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6563G>T (p.Arg2188Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003754798] |
Chr12:49041207 [GRCh38]
Chr12:49434990 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6498G>A (p.Gln2166=) |
single nucleotide variant |
Kabuki syndrome [RCV003852197] |
Chr12:49041272 [GRCh38]
Chr12:49435055 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1579C>A (p.Pro527Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003589029] |
Chr12:49052104 [GRCh38]
Chr12:49445887 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9995C>G (p.Thr3332Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003589146] |
Chr12:49037361 [GRCh38]
Chr12:49431144 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15772G>A (p.Ala5258Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003590824] |
Chr12:49026194 [GRCh38]
Chr12:49419977 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2547G>C (p.Ser849=) |
single nucleotide variant |
Kabuki syndrome [RCV003590921] |
Chr12:49051136 [GRCh38]
Chr12:49444919 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6234+15G>T |
single nucleotide variant |
Kabuki syndrome [RCV003589720] |
Chr12:49041640 [GRCh38]
Chr12:49435423 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1364A>C (p.Glu455Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003589861] |
Chr12:49052319 [GRCh38]
Chr12:49446102 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4623C>T (p.Asp1541=) |
single nucleotide variant |
Kabuki syndrome [RCV003857231] |
Chr12:49046135 [GRCh38]
Chr12:49439918 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11067T>C (p.Ala3689=) |
single nucleotide variant |
Kabuki syndrome [RCV003588222] |
Chr12:49033638 [GRCh38]
Chr12:49427421 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6458C>G (p.Pro2153Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588326] |
Chr12:49041312 [GRCh38]
Chr12:49435095 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11655G>T (p.Gly3885=) |
single nucleotide variant |
Kabuki syndrome [RCV003590030] |
Chr12:49033050 [GRCh38]
Chr12:49426833 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2823C>T (p.Pro941=) |
single nucleotide variant |
Kabuki syndrome [RCV003590041] |
Chr12:49050765 [GRCh38]
Chr12:49444548 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15741G>A (p.Glu5247=) |
single nucleotide variant |
Kabuki syndrome [RCV003590092] |
Chr12:49026225 [GRCh38]
Chr12:49420008 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2654C>T (p.Pro885Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003590946] |
Chr12:49051029 [GRCh38]
Chr12:49444812 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13049C>T (p.Thr4350Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003591107] |
Chr12:49031656 [GRCh38]
Chr12:49425439 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14476G>A (p.Ala4826Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003841877] |
Chr12:49028048 [GRCh38]
Chr12:49421831 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11163G>A (p.Leu3721=) |
single nucleotide variant |
Kabuki syndrome [RCV003589903] |
Chr12:49033542 [GRCh38]
Chr12:49427325 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8649T>G (p.Asn2883Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003589934] |
Chr12:49038707 [GRCh38]
Chr12:49432490 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1113-4G>A |
single nucleotide variant |
Kabuki syndrome [RCV003589945] |
Chr12:49052713 [GRCh38]
Chr12:49446496 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11829del (p.Gln3943fs) |
deletion |
Kabuki syndrome [RCV003590160] |
Chr12:49032876 [GRCh38]
Chr12:49426659 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10332T>A (p.Ile3444=) |
single nucleotide variant |
Kabuki syndrome [RCV003590112] |
Chr12:49034835 [GRCh38]
Chr12:49428618 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7677C>A (p.Pro2559=) |
single nucleotide variant |
Kabuki syndrome [RCV003823930] |
Chr12:49040093 [GRCh38]
Chr12:49433876 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7588A>C (p.Thr2530Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003589332] |
Chr12:49040182 [GRCh38]
Chr12:49433965 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15502A>G (p.Ile5168Val) |
single nucleotide variant |
Kabuki syndrome [RCV003588110] |
Chr12:49026464 [GRCh38]
Chr12:49420247 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3934C>T (p.Arg1312Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003588182] |
Chr12:49049191 [GRCh38]
Chr12:49442974 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14264C>A (p.Thr4755Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003588183] |
Chr12:49028946 [GRCh38]
Chr12:49422729 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4964-15T>C |
single nucleotide variant |
Kabuki syndrome [RCV003588190] |
Chr12:49044537 [GRCh38]
Chr12:49438320 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10980G>C (p.Gly3660=) |
single nucleotide variant |
Kabuki syndrome [RCV003590039] |
Chr12:49033725 [GRCh38]
Chr12:49427508 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.305G>C (p.Ser102Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003590047] |
Chr12:49054623 [GRCh38]
Chr12:49448406 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12562G>T (p.Val4188Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003589984] |
Chr12:49032143 [GRCh38]
Chr12:49425926 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1911A>C (p.Pro637=) |
single nucleotide variant |
Kabuki syndrome [RCV003588345] |
Chr12:49051772 [GRCh38]
Chr12:49445555 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10055A>G (p.Asn3352Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003588502] |
Chr12:49037301 [GRCh38]
Chr12:49431084 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13983T>C (p.Ser4661=) |
single nucleotide variant |
Kabuki syndrome [RCV003590252] |
Chr12:49030296 [GRCh38]
Chr12:49424079 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4290T>G (p.Cys1430Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003590275] |
Chr12:49046737 [GRCh38]
Chr12:49440520 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4095T>G (p.Val1365=) |
single nucleotide variant |
Kabuki syndrome [RCV003590318] |
Chr12:49048695 [GRCh38]
Chr12:49442478 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6308A>G (p.His2103Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003843744] |
Chr12:49041462 [GRCh38]
Chr12:49435245 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1401G>A (p.Leu467=) |
single nucleotide variant |
Kabuki syndrome [RCV003857863] |
Chr12:49052282 [GRCh38]
Chr12:49446065 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1369C>T (p.Pro457Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003588245] |
Chr12:49052314 [GRCh38]
Chr12:49446097 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14496G>C (p.Lys4832Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003588246] |
Chr12:49028028 [GRCh38]
Chr12:49421811 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4902C>G (p.Ala1634=) |
single nucleotide variant |
Kabuki syndrome [RCV003588280] |
Chr12:49044805 [GRCh38]
Chr12:49438588 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7045C>A (p.Pro2349Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003590076] |
Chr12:49040725 [GRCh38]
Chr12:49434508 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3070T>C (p.Cys1024Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590149] |
Chr12:49050518 [GRCh38]
Chr12:49444301 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9258G>A (p.Leu3086=) |
single nucleotide variant |
Kabuki syndrome [RCV003845369] |
Chr12:49038098 [GRCh38]
Chr12:49431881 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15922-20A>T |
single nucleotide variant |
Kabuki syndrome [RCV003845314] |
Chr12:49024728 [GRCh38]
Chr12:49418511 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2780C>G (p.Pro927Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590413] |
Chr12:49050903 [GRCh38]
Chr12:49444686 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8502A>G (p.Ser2834=) |
single nucleotide variant |
Kabuki syndrome [RCV003590427] |
Chr12:49038854 [GRCh38]
Chr12:49432637 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13840-16A>G |
single nucleotide variant |
Kabuki syndrome [RCV003589536] |
Chr12:49030455 [GRCh38]
Chr12:49424238 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6234+12T>A |
single nucleotide variant |
Kabuki syndrome [RCV003589560] |
Chr12:49041643 [GRCh38]
Chr12:49435426 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5393G>A (p.Ser1798Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003590465] |
Chr12:49043709 [GRCh38]
Chr12:49437492 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14097C>A (p.Ser4699Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590423] |
Chr12:49029215 [GRCh38]
Chr12:49422998 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9563C>G (p.Thr3188Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003856941] |
Chr12:49037793 [GRCh38]
Chr12:49431576 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13546A>G (p.Lys4516Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003589641] |
Chr12:49031018 [GRCh38]
Chr12:49424801 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1746_1772dup (p.Glu595_Ala596insGluSerProMetSerProProProGlu) |
duplication |
Kabuki syndrome [RCV003589544] |
Chr12:49051910..49051911 [GRCh38]
Chr12:49445693..49445694 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14000-17C>T |
single nucleotide variant |
Kabuki syndrome [RCV003844799] |
Chr12:49029493 [GRCh38]
Chr12:49423276 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4020+8G>C |
single nucleotide variant |
Kabuki syndrome [RCV003590282] |
Chr12:49049097 [GRCh38]
Chr12:49442880 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7730G>A (p.Ser2577Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003590345] |
Chr12:49040040 [GRCh38]
Chr12:49433823 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8822A>G (p.Glu2941Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003590661] |
Chr12:49038534 [GRCh38]
Chr12:49432317 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13435G>A (p.Gly4479Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590521] |
Chr12:49031270 [GRCh38]
Chr12:49425053 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5526_5527del (p.Pro1844fs) |
deletion |
Kabuki syndrome [RCV003589700] |
Chr12:49043369..49043370 [GRCh38]
Chr12:49437152..49437153 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8249G>A (p.Gly2750Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003844882] |
Chr12:49039339 [GRCh38]
Chr12:49433122 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4836C>G (p.Arg1612=) |
single nucleotide variant |
Kabuki syndrome [RCV003590384] |
Chr12:49044871 [GRCh38]
Chr12:49438654 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3541C>T (p.Pro1181Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003590430] |
Chr12:49050047 [GRCh38]
Chr12:49443830 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15256C>A (p.Arg5086=) |
single nucleotide variant |
Kabuki syndrome [RCV003589075] |
Chr12:49026710 [GRCh38]
Chr12:49420493 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7467G>A (p.Leu2489=) |
single nucleotide variant |
Kabuki syndrome [RCV003590805] |
Chr12:49040303 [GRCh38]
Chr12:49434086 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6110-20T>A |
single nucleotide variant |
Kabuki syndrome [RCV003590855] |
Chr12:49042010 [GRCh38]
Chr12:49435793 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16531G>C (p.Asp5511His) |
single nucleotide variant |
Kabuki syndrome [RCV003589823] |
Chr12:49021863 [GRCh38]
Chr12:49415646 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.162T>C (p.Thr54=) |
single nucleotide variant |
Kabuki syndrome [RCV003589728] |
Chr12:49054914 [GRCh38]
Chr12:49448697 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4665C>T (p.Ser1555=) |
single nucleotide variant |
Kabuki syndrome [RCV003589809] |
Chr12:49046093 [GRCh38]
Chr12:49439876 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11763_11780del (p.3919QLQQQQ[1]) |
deletion |
Kabuki syndrome [RCV003822502] |
Chr12:49032925..49032942 [GRCh38]
Chr12:49426708..49426725 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10189G>A (p.Ala3397Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003823822] |
Chr12:49037167 [GRCh38]
Chr12:49430950 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2022G>T (p.Pro674=) |
single nucleotide variant |
Kabuki syndrome [RCV003848766] |
Chr12:49051661 [GRCh38]
Chr12:49445444 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5873G>A (p.Arg1958His) |
single nucleotide variant |
Kabuki syndrome [RCV003853620] |
Chr12:49042325 [GRCh38]
Chr12:49436108 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8977C>G (p.Leu2993Val) |
single nucleotide variant |
Kabuki syndrome [RCV003853733] |
Chr12:49038379 [GRCh38]
Chr12:49432162 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13352T>A (p.Leu4451Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003857446] |
Chr12:49031353 [GRCh38]
Chr12:49425136 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4311C>T (p.Ser1437=) |
single nucleotide variant |
KMT2D-related condition [RCV003966713]|Kabuki syndrome [RCV003841157] |
Chr12:49046716 [GRCh38]
Chr12:49440499 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9967C>A (p.Pro3323Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003590522] |
Chr12:49037389 [GRCh38]
Chr12:49431172 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9678T>G (p.Pro3226=) |
single nucleotide variant |
Kabuki syndrome [RCV003590561] |
Chr12:49037678 [GRCh38]
Chr12:49431461 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8581C>T (p.Leu2861=) |
single nucleotide variant |
Kabuki syndrome [RCV003590577] |
Chr12:49038775 [GRCh38]
Chr12:49432558 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9834_9848dup (p.Gln3282_His3283insGlnGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV003589209] |
Chr12:49037507..49037508 [GRCh38]
Chr12:49431290..49431291 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2846C>T (p.Pro949Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003590875] |
Chr12:49050742 [GRCh38]
Chr12:49444525 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14333A>G (p.Lys4778Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590655] |
Chr12:49028877 [GRCh38]
Chr12:49422660 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9592C>T (p.Pro3198Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003589231] |
Chr12:49037764 [GRCh38]
Chr12:49431547 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15783G>A (p.Gln5261=) |
single nucleotide variant |
Kabuki syndrome [RCV003589169] |
Chr12:49026183 [GRCh38]
Chr12:49419966 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13735T>G (p.Phe4579Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589263] |
Chr12:49030705 [GRCh38]
Chr12:49424488 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5533+5G>A |
single nucleotide variant |
Kabuki syndrome [RCV003589264] |
Chr12:49043358 [GRCh38]
Chr12:49437141 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2237G>C (p.Arg746Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003589317] |
Chr12:49051446 [GRCh38]
Chr12:49445229 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.200C>T (p.Ala67Val) |
single nucleotide variant |
Kabuki syndrome [RCV003591061] |
Chr12:49054728 [GRCh38]
Chr12:49448511 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4419-21_4419-20del |
microsatellite |
Kabuki syndrome [RCV003590021] |
Chr12:49046444..49046445 [GRCh38]
Chr12:49440227..49440228 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.510+8T>C |
single nucleotide variant |
Kabuki syndrome [RCV003861550] |
Chr12:49054299 [GRCh38]
Chr12:49448082 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10148G>T (p.Gly3383Val) |
single nucleotide variant |
Kabuki syndrome [RCV003846959] |
Chr12:49037208 [GRCh38]
Chr12:49430991 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12744C>G (p.Thr4248=) |
single nucleotide variant |
Kabuki syndrome [RCV003862894] |
Chr12:49031961 [GRCh38]
Chr12:49425744 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8991T>A (p.Phe2997Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003590724] |
Chr12:49038365 [GRCh38]
Chr12:49432148 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7146A>G (p.Pro2382=) |
single nucleotide variant |
Kabuki syndrome [RCV003590836] |
Chr12:49040624 [GRCh38]
Chr12:49434407 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11880A>C (p.Gln3960His) |
single nucleotide variant |
Kabuki syndrome [RCV003823597] |
Chr12:49032825 [GRCh38]
Chr12:49426608 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2147T>C (p.Met716Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003589165] |
Chr12:49051536 [GRCh38]
Chr12:49445319 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.31A>G (p.Lys11Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003842957] |
Chr12:49055294 [GRCh38]
Chr12:49449077 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11122A>G (p.Ser3708Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003588324] |
Chr12:49033583 [GRCh38]
Chr12:49427366 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14267A>G (p.Lys4756Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588329] |
Chr12:49028943 [GRCh38]
Chr12:49422726 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10441-13TC[2] |
microsatellite |
Kabuki syndrome [RCV003588339] |
Chr12:49034484..49034485 [GRCh38]
Chr12:49428267..49428268 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9287C>T (p.Pro3096Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003588405]|not provided [RCV003886630] |
Chr12:49038069 [GRCh38]
Chr12:49431852 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5801A>C (p.Asn1934Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003590165] |
Chr12:49042627 [GRCh38]
Chr12:49436410 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12228G>C (p.Leu4076=) |
single nucleotide variant |
Kabuki syndrome [RCV003589077] |
Chr12:49032477 [GRCh38]
Chr12:49426260 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11884C>A (p.Gln3962Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003589412] |
Chr12:49032821 [GRCh38]
Chr12:49426604 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6698C>A (p.Thr2233Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003842252] |
Chr12:49041072 [GRCh38]
Chr12:49434855 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13816T>C (p.Tyr4606His) |
single nucleotide variant |
Kabuki syndrome [RCV003866486] |
Chr12:49030624 [GRCh38]
Chr12:49424407 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10922T>C (p.Leu3641Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003588516] |
Chr12:49033783 [GRCh38]
Chr12:49427566 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13973C>T (p.Ala4658Val) |
single nucleotide variant |
Kabuki syndrome [RCV003588386] |
Chr12:49030306 [GRCh38]
Chr12:49424089 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9259C>G (p.Arg3087Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003588397] |
Chr12:49038097 [GRCh38]
Chr12:49431880 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12024C>T (p.His4008=) |
single nucleotide variant |
Kabuki syndrome [RCV003590304] |
Chr12:49032681 [GRCh38]
Chr12:49426464 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.110A>C (p.His37Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003590382] |
Chr12:49054966 [GRCh38]
Chr12:49448749 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5000A>T (p.Glu1667Val) |
single nucleotide variant |
Kabuki syndrome [RCV003854104] |
Chr12:49044486 [GRCh38]
Chr12:49438269 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9105C>T (p.Asp3035=) |
single nucleotide variant |
Kabuki syndrome [RCV003589304] |
Chr12:49038251 [GRCh38]
Chr12:49432034 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4963+1G>T |
single nucleotide variant |
Kabuki syndrome [RCV003860744] |
Chr12:49044743 [GRCh38]
Chr12:49438526 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.4832G>A (p.Arg1611Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003819460] |
Chr12:49044875 [GRCh38]
Chr12:49438658 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12769C>T (p.Leu4257=) |
single nucleotide variant |
Kabuki syndrome [RCV003589698] |
Chr12:49031936 [GRCh38]
Chr12:49425719 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1311G>C (p.Glu437Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003589703] |
Chr12:49052372 [GRCh38]
Chr12:49446155 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3944G>A (p.Arg1315His) |
single nucleotide variant |
Kabuki syndrome [RCV003590527] |
Chr12:49049181 [GRCh38]
Chr12:49442964 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7222T>C (p.Phe2408Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003590570] |
Chr12:49040548 [GRCh38]
Chr12:49434331 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.401-19C>T |
single nucleotide variant |
Kabuki syndrome [RCV003845778] |
Chr12:49054435 [GRCh38]
Chr12:49448218 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11091G>A (p.Gly3697=) |
single nucleotide variant |
Kabuki syndrome [RCV003863633] |
Chr12:49033614 [GRCh38]
Chr12:49427397 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.860A>G (p.Lys287Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003589520] |
Chr12:49053301 [GRCh38]
Chr12:49447084 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10440+13G>A |
single nucleotide variant |
Kabuki syndrome [RCV003861114] |
Chr12:49034569 [GRCh38]
Chr12:49428352 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6702C>T (p.Pro2234=) |
single nucleotide variant |
Kabuki syndrome [RCV003858679] |
Chr12:49041068 [GRCh38]
Chr12:49434851 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3115C>T (p.Pro1039Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003820002] |
Chr12:49050473 [GRCh38]
Chr12:49444256 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3837C>T (p.Ile1279=) |
single nucleotide variant |
Kabuki syndrome [RCV003590625] |
Chr12:49049751 [GRCh38]
Chr12:49443534 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10740+11G>A |
single nucleotide variant |
Kabuki syndrome [RCV003590552] |
Chr12:49034056 [GRCh38]
Chr12:49427839 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.258G>A (p.Glu86=) |
single nucleotide variant |
Kabuki syndrome [RCV003865630] |
Chr12:49054670 [GRCh38]
Chr12:49448453 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1391_1417del (p.Ala464_Glu472del) |
deletion |
Kabuki syndrome [RCV003866163] |
Chr12:49052266..49052292 [GRCh38]
Chr12:49446049..49446075 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5101G>A (p.Val1701Met) |
single nucleotide variant |
Kabuki syndrome [RCV003589570] |
Chr12:49044287 [GRCh38]
Chr12:49438070 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.26A>G (p.Glu9Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003589645] |
Chr12:49055299 [GRCh38]
Chr12:49449082 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1521T>G (p.Pro507=) |
single nucleotide variant |
Kabuki syndrome [RCV003589646] |
Chr12:49052162 [GRCh38]
Chr12:49445945 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6680A>G (p.His2227Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588130] |
Chr12:49041090 [GRCh38]
Chr12:49434873 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13672-7C>T |
single nucleotide variant |
Kabuki syndrome [RCV003589981] |
Chr12:49030775 [GRCh38]
Chr12:49424558 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10537T>C (p.Trp3513Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588937] |
Chr12:49034270 [GRCh38]
Chr12:49428053 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8752C>G (p.Pro2918Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003590794] |
Chr12:49038604 [GRCh38]
Chr12:49432387 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4021-20C>G |
single nucleotide variant |
Kabuki syndrome [RCV003590868] |
Chr12:49048789 [GRCh38]
Chr12:49442572 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5084-9T>G |
single nucleotide variant |
Kabuki syndrome [RCV003590808] |
Chr12:49044313 [GRCh38]
Chr12:49438096 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14473C>G (p.Arg4825Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003861067] |
Chr12:49028051 [GRCh38]
Chr12:49421834 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1397G>T (p.Arg466Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003589474] |
Chr12:49052286 [GRCh38]
Chr12:49446069 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6630G>C (p.Pro2210=) |
single nucleotide variant |
Kabuki syndrome [RCV003589591] |
Chr12:49041140 [GRCh38]
Chr12:49434923 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16417A>G (p.Ile5473Val) |
single nucleotide variant |
Kabuki syndrome [RCV003867123] |
Chr12:49022147 [GRCh38]
Chr12:49415930 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5782+14G>A |
single nucleotide variant |
Kabuki syndrome [RCV003859557] |
Chr12:49042727 [GRCh38]
Chr12:49436510 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13570C>T (p.Arg4524Trp) |
single nucleotide variant |
KMT2D-related condition [RCV003901108]|Kabuki syndrome [RCV003589771] |
Chr12:49030994 [GRCh38]
Chr12:49424777 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.13403G>A (p.Arg4468Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003589780] |
Chr12:49031302 [GRCh38]
Chr12:49425085 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14471C>T (p.Ala4824Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589821] |
Chr12:49028053 [GRCh38]
Chr12:49421836 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6826C>T (p.Pro2276Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003589826] |
Chr12:49040944 [GRCh38]
Chr12:49434727 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.510+2T>C |
single nucleotide variant |
Kabuki syndrome [RCV003589862] |
Chr12:49054305 [GRCh38]
Chr12:49448088 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.2341G>A (p.Ala781Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003868877] |
Chr12:49051342 [GRCh38]
Chr12:49445125 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5468-15_5468-14insT |
insertion |
Kabuki syndrome [RCV003589965] |
Chr12:49043442..49043443 [GRCh38]
Chr12:49437225..49437226 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13714A>G (p.Asn4572Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003590038] |
Chr12:49030726 [GRCh38]
Chr12:49424509 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1440T>C (p.Pro480=) |
single nucleotide variant |
Kabuki syndrome [RCV003590081] |
Chr12:49052243 [GRCh38]
Chr12:49446026 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12394dup (p.His4132fs) |
duplication |
Kabuki syndrome [RCV003590093] |
Chr12:49032310..49032311 [GRCh38]
Chr12:49426093..49426094 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.14704G>A (p.Asp4902Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003590052] |
Chr12:49027262 [GRCh38]
Chr12:49421045 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8105A>G (p.Gln2702Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003871152] |
Chr12:49039559 [GRCh38]
Chr12:49433342 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8310C>A (p.Asp2770Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003588289] |
Chr12:49039278 [GRCh38]
Chr12:49433061 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6320C>A (p.Pro2107His) |
single nucleotide variant |
Kabuki syndrome [RCV003588102] |
Chr12:49041450 [GRCh38]
Chr12:49435233 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14971C>T (p.Arg4991Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003588372] |
Chr12:49026995 [GRCh38]
Chr12:49420778 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15712C>G (p.Arg5238Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003588382] |
Chr12:49026254 [GRCh38]
Chr12:49420037 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9763C>T (p.His3255Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003590243] |
Chr12:49037593 [GRCh38]
Chr12:49431376 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4096_4099del (p.Leu1366fs) |
deletion |
Kabuki syndrome [RCV003590319] |
Chr12:49048691..49048694 [GRCh38]
Chr12:49442474..49442477 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.1364_1390dup (p.Glu463_Ala464insGluSerProThrSerProProProGlu) |
duplication |
Kabuki syndrome [RCV003864099] |
Chr12:49052292..49052293 [GRCh38]
Chr12:49446075..49446076 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9795G>A (p.Gln3265=) |
single nucleotide variant |
Kabuki syndrome [RCV003857395] |
Chr12:49037561 [GRCh38]
Chr12:49431344 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11340C>T (p.Ser3780=) |
single nucleotide variant |
Kabuki syndrome [RCV003588535] |
Chr12:49033365 [GRCh38]
Chr12:49427148 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9801A>G (p.Ser3267=) |
single nucleotide variant |
Kabuki syndrome [RCV003588537] |
Chr12:49037555 [GRCh38]
Chr12:49431338 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9452G>T (p.Gly3151Val) |
single nucleotide variant |
Kabuki syndrome [RCV003590476] |
Chr12:49037904 [GRCh38]
Chr12:49431687 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11580G>A (p.Gln3860=) |
single nucleotide variant |
Kabuki syndrome [RCV003590529] |
Chr12:49033125 [GRCh38]
Chr12:49426908 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8051A>G (p.Gln2684Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590544] |
Chr12:49039613 [GRCh38]
Chr12:49433396 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15086T>C (p.Met5029Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003868240] |
Chr12:49026880 [GRCh38]
Chr12:49420663 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.1282C>T (p.Pro428Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003842465] |
Chr12:49052401 [GRCh38]
Chr12:49446184 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12253C>G (p.Gln4085Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003590656] |
Chr12:49032452 [GRCh38]
Chr12:49426235 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8776G>A (p.Val2926Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003821628] |
Chr12:49038580 [GRCh38]
Chr12:49432363 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3728G>A (p.Gly1243Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003871786] |
Chr12:49049860 [GRCh38]
Chr12:49443643 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9894A>G (p.Pro3298=) |
single nucleotide variant |
Kabuki syndrome [RCV003588991] |
Chr12:49037462 [GRCh38]
Chr12:49431245 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16167G>A (p.Arg5389=) |
single nucleotide variant |
Kabuki syndrome [RCV003589082] |
Chr12:49022761 [GRCh38]
Chr12:49416544 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9214C>A (p.Leu3072Met) |
single nucleotide variant |
Kabuki syndrome [RCV003589111] |
Chr12:49038142 [GRCh38]
Chr12:49431925 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12891T>G (p.Ser4297=) |
single nucleotide variant |
Kabuki syndrome [RCV003589119] |
Chr12:49031814 [GRCh38]
Chr12:49425597 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6954C>T (p.Gly2318=) |
single nucleotide variant |
Kabuki syndrome [RCV003590841] |
Chr12:49040816 [GRCh38]
Chr12:49434599 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6663C>G (p.Gly2221=) |
single nucleotide variant |
Kabuki syndrome [RCV003589196] |
Chr12:49041107 [GRCh38]
Chr12:49434890 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16030A>G (p.Lys5344Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003591032] |
Chr12:49024600 [GRCh38]
Chr12:49418383 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1240T>C (p.Cys414Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003591066] |
Chr12:49052582 [GRCh38]
Chr12:49446365 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1741A>G (p.Met581Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589255] |
Chr12:49051942 [GRCh38]
Chr12:49445725 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2263C>T (p.Arg755Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003589303] |
Chr12:49051420 [GRCh38]
Chr12:49445203 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12862C>G (p.Arg4288Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003589322] |
Chr12:49031843 [GRCh38]
Chr12:49425626 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1089G>A (p.Glu363=) |
single nucleotide variant |
Kabuki syndrome [RCV003589370] |
Chr12:49052938 [GRCh38]
Chr12:49446721 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12991C>T (p.Pro4331Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003591080] |
Chr12:49031714 [GRCh38]
Chr12:49425497 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4062AGA[1] (p.Glu1355del) |
microsatellite |
Kabuki syndrome [RCV003870296] |
Chr12:49048723..49048725 [GRCh38]
Chr12:49442506..49442508 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1451A>G (p.His484Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003589428] |
Chr12:49052232 [GRCh38]
Chr12:49446015 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9716del (p.Ser3239fs) |
deletion |
Kabuki syndrome [RCV003589369] |
Chr12:49037640 [GRCh38]
Chr12:49431423 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.10508-3C>T |
single nucleotide variant |
Kabuki syndrome [RCV003864991] |
Chr12:49034302 [GRCh38]
Chr12:49428085 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4985G>A (p.Cys1662Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003864992] |
Chr12:49044501 [GRCh38]
Chr12:49438284 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1364_1390del (p.Glu455_Glu463del) |
deletion |
Kabuki syndrome [RCV003872303] |
Chr12:49052293..49052319 [GRCh38]
Chr12:49446076..49446102 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4742-5T>A |
single nucleotide variant |
Kabuki syndrome [RCV003589271] |
Chr12:49044970 [GRCh38]
Chr12:49438753 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.232G>A (p.Gly78Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003859161] |
Chr12:49054696 [GRCh38]
Chr12:49448479 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4640C>T (p.Ala1547Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589180] |
Chr12:49046118 [GRCh38]
Chr12:49439901 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2374G>A (p.Ala792Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003589302] |
Chr12:49051309 [GRCh38]
Chr12:49445092 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2152C>T (p.Leu718=) |
single nucleotide variant |
Kabuki syndrome [RCV003859192] |
Chr12:49051531 [GRCh38]
Chr12:49445314 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4741+10A>C |
single nucleotide variant |
Kabuki syndrome [RCV003589232] |
Chr12:49045910 [GRCh38]
Chr12:49439693 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11266C>T (p.Gln3756Ter) |
single nucleotide variant |
Kabuki syndrome [RCV003589374] |
Chr12:49033439 [GRCh38]
Chr12:49427222 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.8652A>G (p.Val2884=) |
single nucleotide variant |
Kabuki syndrome [RCV003589429] |
Chr12:49038704 [GRCh38]
Chr12:49432487 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6235-10C>T |
single nucleotide variant |
Kabuki syndrome [RCV003864885] |
Chr12:49041545 [GRCh38]
Chr12:49435328 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13530+17G>C |
single nucleotide variant |
Kabuki syndrome [RCV003862904] |
Chr12:49031158 [GRCh38]
Chr12:49424941 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9391_9393del (p.Pro3131del) |
deletion |
Kabuki syndrome [RCV003868380] |
Chr12:49037963..49037965 [GRCh38]
Chr12:49431746..49431748 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.839+8T>C |
single nucleotide variant |
Kabuki syndrome [RCV003870993] |
Chr12:49053468 [GRCh38]
Chr12:49447251 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6235-4G>A |
single nucleotide variant |
Kabuki syndrome [RCV003819310] |
Chr12:49041539 [GRCh38]
Chr12:49435322 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6605C>G (p.Pro2202Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003589606] |
Chr12:49041165 [GRCh38]
Chr12:49434948 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4103C>A (p.Ser1368Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003589613] |
Chr12:49048687 [GRCh38]
Chr12:49442470 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4584-12T>A |
single nucleotide variant |
Kabuki syndrome [RCV003871302] |
Chr12:49046186 [GRCh38]
Chr12:49439969 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10982G>T (p.Gly3661Val) |
single nucleotide variant |
Kabuki syndrome [RCV003820898] |
Chr12:49033723 [GRCh38]
Chr12:49427506 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1741A>C (p.Met581Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003589827] |
Chr12:49051942 [GRCh38]
Chr12:49445725 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9514C>T (p.Pro3172Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003588107] |
Chr12:49037842 [GRCh38]
Chr12:49431625 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3257T>C (p.Leu1086Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003589800] |
Chr12:49050331 [GRCh38]
Chr12:49444114 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9465G>A (p.Lys3155=) |
single nucleotide variant |
Kabuki syndrome [RCV003589877] |
Chr12:49037891 [GRCh38]
Chr12:49431674 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4571G>T (p.Arg1524Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003859636] |
Chr12:49046272 [GRCh38]
Chr12:49440055 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1347G>A (p.Leu449=) |
single nucleotide variant |
Kabuki syndrome [RCV003840792] |
Chr12:49052336 [GRCh38]
Chr12:49446119 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11463G>A (p.Gln3821=) |
single nucleotide variant |
Kabuki syndrome [RCV003588167] |
Chr12:49033242 [GRCh38]
Chr12:49427025 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8311del (p.Arg2771fs) |
deletion |
Kabuki syndrome [RCV003589966] |
Chr12:49039277 [GRCh38]
Chr12:49433060 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.839+8_839+12del |
deletion |
Kabuki syndrome [RCV003589888] |
Chr12:49053464..49053468 [GRCh38]
Chr12:49447247..49447251 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5856C>A (p.Phe1952Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003590061] |
Chr12:49042572 [GRCh38]
Chr12:49436355 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11584C>G (p.Gln3862Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003588112] |
Chr12:49033121 [GRCh38]
Chr12:49426904 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6043C>T (p.Leu2015=) |
single nucleotide variant |
Kabuki syndrome [RCV003590064] |
Chr12:49042155 [GRCh38]
Chr12:49435938 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5468-12T>C |
single nucleotide variant |
Kabuki syndrome [RCV003590180] |
Chr12:49043440 [GRCh38]
Chr12:49437223 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8229+4G>A |
single nucleotide variant |
Kabuki syndrome [RCV003863776] |
Chr12:49039431 [GRCh38]
Chr12:49433214 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2071C>T (p.Pro691Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003588352] |
Chr12:49051612 [GRCh38]
Chr12:49445395 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.4510C>T (p.Leu1504=) |
single nucleotide variant |
Kabuki syndrome [RCV003588380] |
Chr12:49046333 [GRCh38]
Chr12:49440116 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7160C>G (p.Pro2387Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590201] |
Chr12:49040610 [GRCh38]
Chr12:49434393 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7478G>T (p.Gly2493Val) |
single nucleotide variant |
Kabuki syndrome [RCV003843664] |
Chr12:49040292 [GRCh38]
Chr12:49434075 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5151G>A (p.Gln1717=) |
single nucleotide variant |
Kabuki syndrome [RCV003588434] |
Chr12:49044237 [GRCh38]
Chr12:49438020 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8310C>T (p.Asp2770=) |
single nucleotide variant |
KMT2D-related condition [RCV003901178]|Kabuki syndrome [RCV003588320] |
Chr12:49039278 [GRCh38]
Chr12:49433061 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12640T>G (p.Leu4214Val) |
single nucleotide variant |
Kabuki syndrome [RCV003590209] |
Chr12:49032065 [GRCh38]
Chr12:49425848 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10507+8_10507+9insTCAGTGATCTGAGTGATCAGAGATCA |
insertion |
Kabuki syndrome [RCV003590375] |
Chr12:49034401..49034402 [GRCh38]
Chr12:49428184..49428185 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2264G>T (p.Arg755Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003892246] |
Chr12:49051419 [GRCh38]
Chr12:49445202 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10507+8T>A |
single nucleotide variant |
Kabuki syndrome [RCV003590376] |
Chr12:49034402 [GRCh38]
Chr12:49428185 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14643+6T>C |
single nucleotide variant |
Kabuki syndrome [RCV003853814] |
Chr12:49027797 [GRCh38]
Chr12:49421580 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6306A>G (p.Leu2102=) |
single nucleotide variant |
Kabuki syndrome [RCV003867720] |
Chr12:49041464 [GRCh38]
Chr12:49435247 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6181C>T (p.Leu2061=) |
single nucleotide variant |
Kabuki syndrome [RCV003590580] |
Chr12:49041919 [GRCh38]
Chr12:49435702 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1476G>A (p.Ser492=) |
single nucleotide variant |
Kabuki syndrome [RCV003590635] |
Chr12:49052207 [GRCh38]
Chr12:49445990 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.16281T>C (p.Ile5427=) |
single nucleotide variant |
Kabuki syndrome [RCV003867781] |
Chr12:49022647 [GRCh38]
Chr12:49416430 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15426T>C (p.Cys5142=) |
single nucleotide variant |
Kabuki syndrome [RCV003867782] |
Chr12:49026540 [GRCh38]
Chr12:49420323 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.787C>T (p.Arg263Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003590657] |
Chr12:49053528 [GRCh38]
Chr12:49447311 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5188+14G>C |
single nucleotide variant |
Kabuki syndrome [RCV003864473] |
Chr12:49044186 [GRCh38]
Chr12:49437969 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1288T>C (p.Leu430=) |
single nucleotide variant |
Kabuki syndrome [RCV003867747] |
Chr12:49052395 [GRCh38]
Chr12:49446178 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5533+6G>T |
single nucleotide variant |
Kabuki syndrome [RCV003868962] |
Chr12:49043357 [GRCh38]
Chr12:49437140 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11530G>A (p.Gly3844Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003870896] |
Chr12:49033175 [GRCh38]
Chr12:49426958 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8600C>T (p.Pro2867Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003589008] |
Chr12:49038756 [GRCh38]
Chr12:49432539 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8901C>T (p.Pro2967=) |
single nucleotide variant |
Kabuki syndrome [RCV003590781] |
Chr12:49038455 [GRCh38]
Chr12:49432238 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6618T>C (p.Pro2206=) |
single nucleotide variant |
Kabuki syndrome [RCV003589154] |
Chr12:49041152 [GRCh38]
Chr12:49434935 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13271G>A (p.Cys4424Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003589080] |
Chr12:49031434 [GRCh38]
Chr12:49425217 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5485A>G (p.Ile1829Val) |
single nucleotide variant |
Kabuki syndrome [RCV003590901] |
Chr12:49043411 [GRCh38]
Chr12:49437194 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.177-15C>T |
single nucleotide variant |
Kabuki syndrome [RCV003590984] |
Chr12:49054766 [GRCh38]
Chr12:49448549 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6470G>T (p.Gly2157Val) |
single nucleotide variant |
Kabuki syndrome [RCV003864661] |
Chr12:49041300 [GRCh38]
Chr12:49435083 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15520C>T (p.Arg5174Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003842956] |
Chr12:49026446 [GRCh38]
Chr12:49420229 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5645-5C>A |
single nucleotide variant |
Kabuki syndrome [RCV003589387] |
Chr12:49042883 [GRCh38]
Chr12:49436666 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13673A>T (p.Glu4558Val) |
single nucleotide variant |
Kabuki syndrome [RCV003588943] |
Chr12:49030767 [GRCh38]
Chr12:49424550 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8498T>C (p.Met2833Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003590608] |
Chr12:49038858 [GRCh38]
Chr12:49432641 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8540G>A (p.Arg2847His) |
single nucleotide variant |
Kabuki syndrome [RCV003590689] |
Chr12:49038816 [GRCh38]
Chr12:49432599 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5563C>G (p.Pro1855Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003893494]|Kabuki syndrome [RCV003844044] |
Chr12:49043157 [GRCh38]
Chr12:49436940 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5207C>T (p.Pro1736Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003590802] |
Chr12:49043980 [GRCh38]
Chr12:49437763 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10095A>G (p.Ala3365=) |
single nucleotide variant |
Kabuki syndrome [RCV003860390] |
Chr12:49037261 [GRCh38]
Chr12:49431044 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5980G>A (p.Asp1994Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003590816] |
Chr12:49042218 [GRCh38]
Chr12:49436001 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8340G>A (p.Thr2780=) |
single nucleotide variant |
Kabuki syndrome [RCV003589184] |
Chr12:49039248 [GRCh38]
Chr12:49433031 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1748C>T (p.Pro583Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003589318] |
Chr12:49051935 [GRCh38]
Chr12:49445718 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4693+14G>A |
single nucleotide variant |
Kabuki syndrome [RCV003589356] |
Chr12:49046051 [GRCh38]
Chr12:49439834 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10507+12G>T |
single nucleotide variant |
Kabuki syndrome [RCV003589182] |
Chr12:49034398 [GRCh38]
Chr12:49428181 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5463G>A (p.Gln1821=) |
single nucleotide variant |
Kabuki syndrome [RCV003853052] |
Chr12:49043639 [GRCh38]
Chr12:49437422 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10766C>T (p.Thr3589Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003589254] |
Chr12:49033939 [GRCh38]
Chr12:49427722 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13734C>G (p.Pro4578=) |
single nucleotide variant |
Kabuki syndrome [RCV003589258] |
Chr12:49030706 [GRCh38]
Chr12:49424489 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8058A>G (p.Leu2686=) |
single nucleotide variant |
Kabuki syndrome [RCV003589279] |
Chr12:49039606 [GRCh38]
Chr12:49433389 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13632G>A (p.Gly4544=) |
single nucleotide variant |
KMT2D-related condition [RCV003966720]|Kabuki syndrome [RCV003853311] |
Chr12:49030932 [GRCh38]
Chr12:49424715 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.5188G>A (p.Val1730Met) |
single nucleotide variant |
Kabuki syndrome [RCV003865701] |
Chr12:49044200 [GRCh38]
Chr12:49437983 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9475A>T (p.Ser3159Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003847291] |
Chr12:49037881 [GRCh38]
Chr12:49431664 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2517G>T (p.Glu839Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003589321] |
Chr12:49051166 [GRCh38]
Chr12:49444949 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13997G>A (p.Arg4666Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003589386] |
Chr12:49030282 [GRCh38]
Chr12:49424065 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14982G>A (p.Leu4994=) |
single nucleotide variant |
Kabuki syndrome [RCV003853393] |
Chr12:49026984 [GRCh38]
Chr12:49420767 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9531G>C (p.Gly3177=) |
single nucleotide variant |
Kabuki syndrome [RCV003847290] |
Chr12:49037825 [GRCh38]
Chr12:49431608 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3290C>T (p.Pro1097Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003846083] |
Chr12:49050298 [GRCh38]
Chr12:49444081 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10848G>T (p.Val3616=) |
single nucleotide variant |
KMT2D-related condition [RCV003919293]|Kabuki syndrome [RCV003589312] |
Chr12:49033857 [GRCh38]
Chr12:49427640 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14047C>T (p.Pro4683Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003589444] |
Chr12:49029429 [GRCh38]
Chr12:49423212 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6631dup (p.Met2211fs) |
duplication |
Kabuki syndrome [RCV003589590] |
Chr12:49041138..49041139 [GRCh38]
Chr12:49434921..49434922 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.11547A>T (p.Gly3849=) |
single nucleotide variant |
Kabuki syndrome [RCV003846620] |
Chr12:49033158 [GRCh38]
Chr12:49426941 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15687C>T (p.Arg5229=) |
single nucleotide variant |
Kabuki syndrome [RCV003590912] |
Chr12:49026279 [GRCh38]
Chr12:49420062 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.8950G>A (p.Gly2984Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003589508] |
Chr12:49038406 [GRCh38]
Chr12:49432189 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9725C>T (p.Ala3242Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589480] |
Chr12:49037631 [GRCh38]
Chr12:49431414 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5084-12G>C |
single nucleotide variant |
Kabuki syndrome [RCV003589582] |
Chr12:49044316 [GRCh38]
Chr12:49438099 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6304C>G (p.Leu2102Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589592] |
Chr12:49041466 [GRCh38]
Chr12:49435249 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6862A>G (p.Lys2288Glu) |
single nucleotide variant |
Kabuki syndrome [RCV003589612] |
Chr12:49040908 [GRCh38]
Chr12:49434691 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11378A>T (p.Gln3793Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003589681] |
Chr12:49033327 [GRCh38]
Chr12:49427110 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8627A>C (p.Gln2876Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003590916] |
Chr12:49038729 [GRCh38]
Chr12:49432512 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5147C>T (p.Ala1716Val) |
single nucleotide variant |
Kabuki syndrome [RCV003818374] |
Chr12:49044241 [GRCh38]
Chr12:49438024 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7446G>A (p.Gly2482=) |
single nucleotide variant |
Kabuki syndrome [RCV003588156] |
Chr12:49040324 [GRCh38]
Chr12:49434107 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9395G>A (p.Cys3132Tyr) |
single nucleotide variant |
Kabuki syndrome [RCV003588186] |
Chr12:49037961 [GRCh38]
Chr12:49431744 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11034C>G (p.Ala3678=) |
single nucleotide variant |
Kabuki syndrome [RCV003588192] |
Chr12:49033671 [GRCh38]
Chr12:49427454 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5529_5530del (p.Pro1844fs) |
microsatellite |
Kabuki syndrome [RCV003589699] |
Chr12:49043366..49043367 [GRCh38]
Chr12:49437149..49437150 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.15068A>G (p.Asp5023Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003589718] |
Chr12:49026898 [GRCh38]
Chr12:49420681 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10364T>C (p.Val3455Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003853590] |
Chr12:49034658 [GRCh38]
Chr12:49428441 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2798-4C>G |
single nucleotide variant |
Kabuki syndrome [RCV003589716] |
Chr12:49050794 [GRCh38]
Chr12:49444577 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4694-20G>T |
single nucleotide variant |
Kabuki syndrome [RCV003589787] |
Chr12:49045987 [GRCh38]
Chr12:49439770 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5320-19C>G |
single nucleotide variant |
Kabuki syndrome [RCV003590985] |
Chr12:49043801 [GRCh38]
Chr12:49437584 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.593C>T (p.Ala198Val) |
single nucleotide variant |
Kabuki syndrome [RCV003590964] |
Chr12:49054058 [GRCh38]
Chr12:49447841 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5549dup (p.Val1851fs) |
duplication |
Kabuki syndrome [RCV003591062] |
Chr12:49043170..49043171 [GRCh38]
Chr12:49436953..49436954 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.2655C>T (p.Pro885=) |
single nucleotide variant |
Kabuki syndrome [RCV003591116] |
Chr12:49051028 [GRCh38]
Chr12:49444811 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3063T>C (p.Pro1021=) |
single nucleotide variant |
Kabuki syndrome [RCV003591117] |
Chr12:49050525 [GRCh38]
Chr12:49444308 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1193G>A (p.Gly398Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003591069] |
Chr12:49052629 [GRCh38]
Chr12:49446412 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15380A>G (p.Lys5127Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588119] |
Chr12:49026586 [GRCh38]
Chr12:49420369 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7648C>A (p.Pro2550Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003588125] |
Chr12:49040122 [GRCh38]
Chr12:49433905 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7904G>T (p.Arg2635Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003588180] |
Chr12:49039866 [GRCh38]
Chr12:49433649 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8533C>T (p.Leu2845Phe) |
single nucleotide variant |
Kabuki syndrome [RCV003588325] |
Chr12:49038823 [GRCh38]
Chr12:49432606 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.976T>C (p.Cys326Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003589527] |
Chr12:49053051 [GRCh38]
Chr12:49446834 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1226C>T (p.Pro409Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003984379]|Kabuki syndrome [RCV003589797] |
Chr12:49052596 [GRCh38]
Chr12:49446379 [GRCh37]
Chr12:12q13.12 |
benign|uncertain significance |
| NM_003482.4(KMT2D):c.14366C>G (p.Ser4789Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003589805] |
Chr12:49028844 [GRCh38]
Chr12:49422627 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11922G>A (p.Gln3974=) |
single nucleotide variant |
Kabuki syndrome [RCV003853685] |
Chr12:49032783 [GRCh38]
Chr12:49426566 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8697C>T (p.Gly2899=) |
single nucleotide variant |
Kabuki syndrome [RCV003824036] |
Chr12:49038659 [GRCh38]
Chr12:49432442 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.155A>G (p.Gln52Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003864241] |
Chr12:49054921 [GRCh38]
Chr12:49448704 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9034C>G (p.Leu3012Val) |
single nucleotide variant |
Kabuki syndrome [RCV003588111] |
Chr12:49038322 [GRCh38]
Chr12:49432105 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13836C>T (p.Thr4612=) |
single nucleotide variant |
KMT2D-related condition [RCV003980991]|Kabuki syndrome [RCV003588121] |
Chr12:49030604 [GRCh38]
Chr12:49424387 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.15907C>T (p.Arg5303Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003954278]|Kabuki syndrome [RCV003588408] |
Chr12:49024824 [GRCh38]
Chr12:49418607 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.744G>T (p.Gly248=) |
single nucleotide variant |
Kabuki syndrome [RCV003588185] |
Chr12:49053571 [GRCh38]
Chr12:49447354 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.145C>A (p.Pro49Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003588093] |
Chr12:49054931 [GRCh38]
Chr12:49448714 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2715A>C (p.Glu905Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003589858] |
Chr12:49050968 [GRCh38]
Chr12:49444751 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4188C>T (p.Ala1396=) |
single nucleotide variant |
Kabuki syndrome [RCV003589915] |
Chr12:49048013 [GRCh38]
Chr12:49441796 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.400+18G>C |
single nucleotide variant |
Kabuki syndrome [RCV003589868] |
Chr12:49054510 [GRCh38]
Chr12:49448293 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4850G>A (p.Arg1617Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003589947] |
Chr12:49044857 [GRCh38]
Chr12:49438640 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11202GCA[14] (p.Gln3745_His3746insGlnGlnGlnGlnGlnGlnGln) |
microsatellite |
Kabuki syndrome [RCV003589977] |
Chr12:49033482..49033483 [GRCh38]
Chr12:49427265..49427266 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8117CAGCTGCAG[3] (p.Ala2711_Gly2712insAlaAlaAla) |
microsatellite |
Kabuki syndrome [RCV003848046] |
Chr12:49039529..49039530 [GRCh38]
Chr12:49433312..49433313 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14145G>A (p.Leu4715=) |
single nucleotide variant |
Kabuki syndrome [RCV003588301] |
Chr12:49029167 [GRCh38]
Chr12:49422950 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2063G>A (p.Arg688His) |
single nucleotide variant |
Kabuki syndrome [RCV003588302] |
Chr12:49051620 [GRCh38]
Chr12:49445403 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11961T>G (p.Pro3987=) |
single nucleotide variant |
Kabuki syndrome [RCV003588482] |
Chr12:49032744 [GRCh38]
Chr12:49426527 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11787_11813dup (p.Gln3947_Leu3948insGlnLeuGlnGlnGlnGlnGlnGlnGln) |
duplication |
Kabuki syndrome [RCV003588517] |
Chr12:49032891..49032892 [GRCh38]
Chr12:49426674..49426675 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12671C>T (p.Ala4224Val) |
single nucleotide variant |
Kabuki syndrome [RCV003858297] |
Chr12:49032034 [GRCh38]
Chr12:49425817 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.279G>A (p.Arg93=) |
single nucleotide variant |
Kabuki syndrome [RCV003588166] |
Chr12:49054649 [GRCh38]
Chr12:49448432 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11568GCA[7] (p.Gln3863_His3864insGlnGln) |
microsatellite |
Kabuki syndrome [RCV003588212] |
Chr12:49033122..49033123 [GRCh38]
Chr12:49426905..49426906 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3292A>G (p.Met1098Val) |
single nucleotide variant |
Kabuki syndrome [RCV003589948] |
Chr12:49050296 [GRCh38]
Chr12:49444079 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.11198A>G (p.Lys3733Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590046] |
Chr12:49033507 [GRCh38]
Chr12:49427290 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15468C>T (p.Tyr5156=) |
single nucleotide variant |
KMT2D-related condition [RCV003909037]|Kabuki syndrome [RCV003588444] |
Chr12:49026498 [GRCh38]
Chr12:49420281 [GRCh37]
Chr12:12q13.12 |
benign|likely benign |
| NM_003482.4(KMT2D):c.7460C>T (p.Thr2487Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003858474] |
Chr12:49040310 [GRCh38]
Chr12:49434093 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11738AGC[9] (p.Gln3919_Leu3920insGlnGln) |
microsatellite |
Kabuki syndrome [RCV003588236] |
Chr12:49032946..49032947 [GRCh38]
Chr12:49426729..49426730 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12282T>A (p.Pro4094=) |
single nucleotide variant |
Kabuki syndrome [RCV003588244] |
Chr12:49032423 [GRCh38]
Chr12:49426206 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6710A>C (p.Gln2237Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003588248] |
Chr12:49041060 [GRCh38]
Chr12:49434843 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6682A>G (p.Thr2228Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003588294] |
Chr12:49041088 [GRCh38]
Chr12:49434871 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.9930A>G (p.Gln3310=) |
single nucleotide variant |
Kabuki syndrome [RCV003588307] |
Chr12:49037426 [GRCh38]
Chr12:49431209 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.10338G>T (p.Val3446=) |
single nucleotide variant |
Kabuki syndrome [RCV003590111] |
Chr12:49034829 [GRCh38]
Chr12:49428612 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1210A>G (p.Met404Val) |
single nucleotide variant |
Kabuki syndrome [RCV003866299] |
Chr12:49052612 [GRCh38]
Chr12:49446395 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3051G>A (p.Met1017Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003590096] |
Chr12:49050537 [GRCh38]
Chr12:49444320 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5481A>G (p.Pro1827=) |
single nucleotide variant |
Kabuki syndrome [RCV003859972] |
Chr12:49043415 [GRCh38]
Chr12:49437198 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.15685C>T (p.Arg5229Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003818553] |
Chr12:49026281 [GRCh38]
Chr12:49420064 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16392G>A (p.Thr5464=) |
single nucleotide variant |
Kabuki syndrome [RCV003841056] |
Chr12:49022300 [GRCh38]
Chr12:49416083 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3068A>G (p.Gln1023Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003820052] |
Chr12:49050520 [GRCh38]
Chr12:49444303 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13250A>G (p.Gln4417Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588337] |
Chr12:49031455 [GRCh38]
Chr12:49425238 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7408C>A (p.Pro2470Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003844856] |
Chr12:49040362 [GRCh38]
Chr12:49434145 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13461C>G (p.Ile4487Met) |
single nucleotide variant |
Kabuki syndrome [RCV003857437] |
Chr12:49031244 [GRCh38]
Chr12:49425027 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5644+17T>C |
single nucleotide variant |
Kabuki syndrome [RCV003588977] |
Chr12:49043059 [GRCh38]
Chr12:49436842 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8102G>C (p.Arg2701Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003588997] |
Chr12:49039562 [GRCh38]
Chr12:49433345 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12171A>G (p.Ser4057=) |
single nucleotide variant |
Kabuki syndrome [RCV003819846] |
Chr12:49032534 [GRCh38]
Chr12:49426317 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14993A>G (p.Lys4998Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003819856] |
Chr12:49026973 [GRCh38]
Chr12:49420756 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12360C>T (p.Gly4120=) |
single nucleotide variant |
Kabuki syndrome [RCV003590206] |
Chr12:49032345 [GRCh38]
Chr12:49426128 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11630A>G (p.Gln3877Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590126] |
Chr12:49033075 [GRCh38]
Chr12:49426858 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14074A>G (p.Arg4692Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003590276] |
Chr12:49029402 [GRCh38]
Chr12:49423185 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15352G>C (p.Ala5118Pro) |
single nucleotide variant |
Kabuki syndrome [RCV003590293] |
Chr12:49026614 [GRCh38]
Chr12:49420397 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14273A>G (p.Tyr4758Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003590247] |
Chr12:49028937 [GRCh38]
Chr12:49422720 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.7673C>T (p.Pro2558Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003590274] |
Chr12:49040097 [GRCh38]
Chr12:49433880 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11903A>G (p.Gln3968Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590358] |
Chr12:49032802 [GRCh38]
Chr12:49426585 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13052T>G (p.Leu4351Trp) |
single nucleotide variant |
Kabuki syndrome [RCV003590397] |
Chr12:49031653 [GRCh38]
Chr12:49425436 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7404G>A (p.Lys2468=) |
single nucleotide variant |
Kabuki syndrome [RCV003589006] |
Chr12:49040366 [GRCh38]
Chr12:49434149 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.6116C>T (p.Ser2039Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003858976] |
Chr12:49041984 [GRCh38]
Chr12:49435767 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.5380G>A (p.Val1794Met) |
single nucleotide variant |
Kabuki syndrome [RCV003589033] |
Chr12:49043722 [GRCh38]
Chr12:49437505 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.3064C>T (p.Pro1022Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003590361] |
Chr12:49050524 [GRCh38]
Chr12:49444307 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5744A>G (p.Glu1915Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003590390] |
Chr12:49042779 [GRCh38]
Chr12:49436562 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13889del (p.Pro4630fs) |
deletion |
Kabuki syndrome [RCV003590410] |
Chr12:49030390 [GRCh38]
Chr12:49424173 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.6547T>A (p.Tyr2183Asn) |
single nucleotide variant |
Kabuki syndrome [RCV003590396] |
Chr12:49041223 [GRCh38]
Chr12:49435006 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14644-13C>T |
single nucleotide variant |
Kabuki syndrome [RCV003821378] |
Chr12:49027335 [GRCh38]
Chr12:49421118 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16338+2dup |
duplication |
Kabuki syndrome [RCV003590493] |
Chr12:49022587..49022588 [GRCh38]
Chr12:49416370..49416371 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1138_1158del (p.Thr380_Asp386del) |
deletion |
Kabuki syndrome [RCV003590581] |
Chr12:49052664..49052684 [GRCh38]
Chr12:49446447..49446467 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6603T>G (p.Ser2201Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003588931] |
Chr12:49041167 [GRCh38]
Chr12:49434950 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2755C>G (p.Pro919Ala) |
single nucleotide variant |
Kabuki syndrome [RCV003589125] |
Chr12:49050928 [GRCh38]
Chr12:49444711 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12148G>A (p.Ala4050Thr) |
single nucleotide variant |
Kabuki syndrome [RCV003589241] |
Chr12:49032557 [GRCh38]
Chr12:49426340 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15290G>A (p.Arg5097Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003588423] |
Chr12:49026676 [GRCh38]
Chr12:49420459 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12946G>A (p.Glu4316Lys) |
single nucleotide variant |
Kabuki syndrome [RCV003590475] |
Chr12:49031759 [GRCh38]
Chr12:49425542 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1081G>A (p.Val361Ile) |
single nucleotide variant |
Kabuki syndrome [RCV003590526] |
Chr12:49052946 [GRCh38]
Chr12:49446729 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14252-13C>A |
single nucleotide variant |
Kabuki syndrome [RCV003590497] |
Chr12:49028971 [GRCh38]
Chr12:49422754 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.120G>C (p.Glu40Asp) |
single nucleotide variant |
Kabuki syndrome [RCV003843919] |
Chr12:49054956 [GRCh38]
Chr12:49448739 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.12845G>A (p.Arg4282Gln) |
single nucleotide variant |
Kabuki syndrome [RCV003590612] |
Chr12:49031860 [GRCh38]
Chr12:49425643 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.14442C>T (p.Ser4814=) |
single nucleotide variant |
Kabuki syndrome [RCV003845979] |
Chr12:49028082 [GRCh38]
Chr12:49421865 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11589G>A (p.Gln3863=) |
single nucleotide variant |
Kabuki syndrome [RCV003861555] |
Chr12:49033116 [GRCh38]
Chr12:49426899 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6184-3C>T |
single nucleotide variant |
Kabuki syndrome [RCV003589069] |
Chr12:49041708 [GRCh38]
Chr12:49435491 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13454C>G (p.Ala4485Gly) |
single nucleotide variant |
Kabuki syndrome [RCV003589076] |
Chr12:49031251 [GRCh38]
Chr12:49425034 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.2096C>G (p.Ser699Cys) |
single nucleotide variant |
Kabuki syndrome [RCV003589025] |
Chr12:49051587 [GRCh38]
Chr12:49445370 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13047A>G (p.Pro4349=) |
single nucleotide variant |
Kabuki syndrome [RCV003589130] |
Chr12:49031658 [GRCh38]
Chr12:49425441 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6689C>T (p.Pro2230Leu) |
single nucleotide variant |
Kabuki syndrome [RCV003589133] |
Chr12:49041081 [GRCh38]
Chr12:49434864 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1200C>T (p.His400=) |
single nucleotide variant |
Kabuki syndrome [RCV003589298] |
Chr12:49052622 [GRCh38]
Chr12:49446405 [GRCh37]
Chr12:12q13.12 |
benign |
| NM_003482.4(KMT2D):c.13732C>T (p.Pro4578Ser) |
single nucleotide variant |
Kabuki syndrome [RCV003589353] |
Chr12:49030708 [GRCh38]
Chr12:49424491 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6105C>T (p.Tyr2035=) |
single nucleotide variant |
KMT2D-related condition [RCV003946670]|Kabuki syndrome [RCV003590633] |
Chr12:49042093 [GRCh38]
Chr12:49435876 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7985C>G (p.Pro2662Arg) |
single nucleotide variant |
Kabuki syndrome [RCV003590604] |
Chr12:49039785 [GRCh38]
Chr12:49433568 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5286C>T (p.Ser1762=) |
single nucleotide variant |
Kabuki syndrome [RCV003590717] |
Chr12:49043901 [GRCh38]
Chr12:49437684 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10680T>C (p.Asp3560=) |
single nucleotide variant |
Kabuki syndrome [RCV003589261] |
Chr12:49034127 [GRCh38]
Chr12:49427910 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13180C>T (p.Leu4394=) |
single nucleotide variant |
not provided [RCV003887053] |
Chr12:49031525 [GRCh38]
Chr12:49425308 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12366A>G (p.Gly4122=) |
single nucleotide variant |
not specified [RCV003988284] |
Chr12:49032339 [GRCh38]
Chr12:49426122 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12672A>T (p.Ala4224=) |
single nucleotide variant |
KMT2D-related condition [RCV003901468] |
Chr12:49032033 [GRCh38]
Chr12:49425816 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6532G>A (p.Gly2178Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003944705] |
Chr12:49041238 [GRCh38]
Chr12:49435021 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5940G>A (p.Thr1980=) |
single nucleotide variant |
KMT2D-related condition [RCV003902251] |
Chr12:49042258 [GRCh38]
Chr12:49436041 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4287G>A (p.Val1429=) |
single nucleotide variant |
KMT2D-related condition [RCV003896495] |
Chr12:49046740 [GRCh38]
Chr12:49440523 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4135A>G (p.Met1379Val) |
single nucleotide variant |
KMT2D-related condition [RCV003904025] |
Chr12:49048066 [GRCh38]
Chr12:49441849 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5663C>T (p.Ser1888Phe) |
single nucleotide variant |
not provided [RCV003887237] |
Chr12:49042860 [GRCh38]
Chr12:49436643 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10969C>T (p.Leu3657=) |
single nucleotide variant |
KMT2D-related condition [RCV003893671] |
Chr12:49033736 [GRCh38]
Chr12:49427519 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12781C>G (p.Pro4261Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003899678] |
Chr12:49031924 [GRCh38]
Chr12:49425707 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10899_10913del (p.Gln3634_Gly3638del) |
deletion |
KMT2D-related condition [RCV003894123] |
Chr12:49033792..49033806 [GRCh38]
Chr12:49427575..49427589 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5904G>A (p.Glu1968=) |
single nucleotide variant |
KMT2D-related condition [RCV003949620] |
Chr12:49042294 [GRCh38]
Chr12:49436077 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11680A>C (p.Met3894Leu) |
single nucleotide variant |
not provided [RCV003884060] |
Chr12:49033025 [GRCh38]
Chr12:49426808 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1392A>G (p.Ala464=) |
single nucleotide variant |
KMT2D-related condition [RCV003983430] |
Chr12:49052291 [GRCh38]
Chr12:49446074 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14309C>T (p.Pro4770Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003983387] |
Chr12:49028901 [GRCh38]
Chr12:49422684 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1002del (p.Asn336fs) |
deletion |
KMT2D-related condition [RCV003921740] |
Chr12:49053025 [GRCh38]
Chr12:49446808 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.9560C>T (p.Ala3187Val) |
single nucleotide variant |
KMT2D-related condition [RCV003979298] |
Chr12:49037796 [GRCh38]
Chr12:49431579 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14516-10C>T |
single nucleotide variant |
KMT2D-related condition [RCV003967070] |
Chr12:49027940 [GRCh38]
Chr12:49421723 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12952A>G (p.Lys4318Glu) |
single nucleotide variant |
KMT2D-related condition [RCV003979319] |
Chr12:49031753 [GRCh38]
Chr12:49425536 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.10145T>C (p.Met3382Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003979411] |
Chr12:49037211 [GRCh38]
Chr12:49430994 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.7971_7973dup (p.Thr2658_Ala2659insThr) |
duplication |
KMT2D-related condition [RCV003909306] |
Chr12:49039796..49039797 [GRCh38]
Chr12:49433579..49433580 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13521C>T (p.Ser4507=) |
single nucleotide variant |
KMT2D-related condition [RCV003974011] |
Chr12:49031184 [GRCh38]
Chr12:49424967 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3702G>T (p.Gly1234=) |
single nucleotide variant |
KMT2D-related condition [RCV003896889] |
Chr12:49049886 [GRCh38]
Chr12:49443669 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3649A>C (p.Ser1217Arg) |
single nucleotide variant |
KMT2D-related condition [RCV003911461] |
Chr12:49049939 [GRCh38]
Chr12:49443722 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.14924G>A (p.Arg4975His) |
single nucleotide variant |
KMT2D-related condition [RCV003964650] |
Chr12:49027042 [GRCh38]
Chr12:49420825 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6960G>A (p.Glu2320=) |
single nucleotide variant |
KMT2D-related condition [RCV003934628] |
Chr12:49040810 [GRCh38]
Chr12:49434593 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7594del (p.Ser2532fs) |
deletion |
KMT2D-related condition [RCV003911719] |
Chr12:49040176 [GRCh38]
Chr12:49433959 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.4593T>C (p.His1531=) |
single nucleotide variant |
KMT2D-related condition [RCV003959775] |
Chr12:49046165 [GRCh38]
Chr12:49439948 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11806C>T (p.Gln3936Ter) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003985165] |
Chr12:49032899 [GRCh38]
Chr12:49426682 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.800G>A (p.Gly267Asp) |
single nucleotide variant |
KMT2D-related condition [RCV003963880] |
Chr12:49053515 [GRCh38]
Chr12:49447298 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2313C>T (p.Ser771=) |
single nucleotide variant |
KMT2D-related condition [RCV003899269] |
Chr12:49051370 [GRCh38]
Chr12:49445153 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.16509C>T (p.Pro5503=) |
single nucleotide variant |
KMT2D-related condition [RCV003957190] |
Chr12:49022055 [GRCh38]
Chr12:49415838 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3018C>T (p.Gly1006=) |
single nucleotide variant |
KMT2D-related condition [RCV003899137] |
Chr12:49050570 [GRCh38]
Chr12:49444353 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.49+3G>A |
single nucleotide variant |
KMT2D-related condition [RCV003979190] |
Chr12:49055273 [GRCh38]
Chr12:49449056 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.8549_8558delinsAA (p.Leu2850fs) |
indel |
KMT2D-related condition [RCV003937054] |
Chr12:49038798..49038807 [GRCh38]
Chr12:49432581..49432590 [GRCh37]
Chr12:12q13.12 |
pathogenic |
| NM_003482.4(KMT2D):c.13671+9_13671+10dup |
duplication |
KMT2D-related condition [RCV003899585] |
Chr12:49030882..49030883 [GRCh38]
Chr12:49424665..49424666 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10232-4C>T |
single nucleotide variant |
KMT2D-related condition [RCV003899755] |
Chr12:49034939 [GRCh38]
Chr12:49428722 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12273G>A (p.Leu4091=) |
single nucleotide variant |
KMT2D-related condition [RCV003979448] |
Chr12:49032432 [GRCh38]
Chr12:49426215 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7818G>A (p.Gly2606=) |
single nucleotide variant |
KMT2D-related condition [RCV003937150] |
Chr12:49039952 [GRCh38]
Chr12:49433735 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13793G>C (p.Gly4598Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003893864] |
Chr12:49030647 [GRCh38]
Chr12:49424430 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.5489C>T (p.Ala1830Val) |
single nucleotide variant |
not provided [RCV003887701] |
Chr12:49043407 [GRCh38]
Chr12:49437190 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15539T>C (p.Val5180Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003961385] |
Chr12:49026427 [GRCh38]
Chr12:49420210 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4382T>C (p.Leu1461Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003964361] |
Chr12:49046645 [GRCh38]
Chr12:49440428 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.11202GCA[6] (p.Gln3745del) |
microsatellite |
KMT2D-related condition [RCV003922229] |
Chr12:49033483..49033485 [GRCh38]
Chr12:49427266..49427268 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10409T>C (p.Leu3470Pro) |
single nucleotide variant |
KMT2D-related condition [RCV003931937] |
Chr12:49034613 [GRCh38]
Chr12:49428396 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.2117C>T (p.Pro706Leu) |
single nucleotide variant |
not provided [RCV003884033] |
Chr12:49051566 [GRCh38]
Chr12:49445349 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.4680G>A (p.Val1560=) |
single nucleotide variant |
KMT2D-related condition [RCV003983525] |
Chr12:49046078 [GRCh38]
Chr12:49439861 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11083C>T (p.Pro3695Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003927125] |
Chr12:49033622 [GRCh38]
Chr12:49427405 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6283C>T (p.Arg2095Cys) |
single nucleotide variant |
KMT2D-related condition [RCV003896959] |
Chr12:49041487 [GRCh38]
Chr12:49435270 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12359G>A (p.Gly4120Asp) |
single nucleotide variant |
not provided [RCV003884905] |
Chr12:49032346 [GRCh38]
Chr12:49426129 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.471A>C (p.Leu157=) |
single nucleotide variant |
KMT2D-related condition [RCV003914663] |
Chr12:49054346 [GRCh38]
Chr12:49448129 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6589C>G (p.Pro2197Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003921755] |
Chr12:49041181 [GRCh38]
Chr12:49434964 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8727A>G (p.Val2909=) |
single nucleotide variant |
KMT2D-related condition [RCV003983727] |
Chr12:49038629 [GRCh38]
Chr12:49432412 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15077C>A (p.Pro5026Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003904042] |
Chr12:49026889 [GRCh38]
Chr12:49420672 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6465G>C (p.Ser2155=) |
single nucleotide variant |
not provided [RCV003886015] |
Chr12:49041305 [GRCh38]
Chr12:49435088 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4964-10C>T |
single nucleotide variant |
KMT2D-related condition [RCV003901572] |
Chr12:49044532 [GRCh38]
Chr12:49438315 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.4694-10C>T |
single nucleotide variant |
KMT2D-related condition [RCV003944506] |
Chr12:49045977 [GRCh38]
Chr12:49439760 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9916T>C (p.Leu3306=) |
single nucleotide variant |
KMT2D-related condition [RCV003904391] |
Chr12:49037440 [GRCh38]
Chr12:49431223 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1269G>A (p.Gly423=) |
single nucleotide variant |
KMT2D-related condition [RCV003981362] |
Chr12:49052414 [GRCh38]
Chr12:49446197 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12171A>C (p.Ser4057=) |
single nucleotide variant |
KMT2D-related condition [RCV003911392] |
Chr12:49032534 [GRCh38]
Chr12:49426317 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.9804A>C (p.Ala3268=) |
single nucleotide variant |
KMT2D-related condition [RCV003969480] |
Chr12:49037552 [GRCh38]
Chr12:49431335 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12759C>T (p.Leu4253=) |
single nucleotide variant |
KMT2D-related condition [RCV003969742] |
Chr12:49031946 [GRCh38]
Chr12:49425729 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1390G>A (p.Ala464Thr) |
single nucleotide variant |
KMT2D-related condition [RCV003952107] |
Chr12:49052293 [GRCh38]
Chr12:49446076 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8856C>A (p.Thr2952=) |
single nucleotide variant |
KMT2D-related condition [RCV003898924] |
Chr12:49038500 [GRCh38]
Chr12:49432283 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.14515+9G>A |
single nucleotide variant |
KMT2D-related condition [RCV003898958] |
Chr12:49028000 [GRCh38]
Chr12:49421783 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10144A>T (p.Met3382Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003981830] |
Chr12:49037212 [GRCh38]
Chr12:49430995 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.13831C>T (p.Leu4611Phe) |
single nucleotide variant |
KMT2D-related condition [RCV003899826] |
Chr12:49030609 [GRCh38]
Chr12:49424392 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1065T>A (p.Gly355=) |
single nucleotide variant |
KMT2D-related condition [RCV003934177] |
Chr12:49052962 [GRCh38]
Chr12:49446745 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2849C>T (p.Ala950Val) |
single nucleotide variant |
KMT2D-related condition [RCV003934232] |
Chr12:49050739 [GRCh38]
Chr12:49444522 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.3879C>T (p.Ser1293=) |
single nucleotide variant |
KMT2D-related condition [RCV003904518] |
Chr12:49049709 [GRCh38]
Chr12:49443492 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.13671+21C>T |
single nucleotide variant |
KMT2D-related condition [RCV003893636] |
Chr12:49030872 [GRCh38]
Chr12:49424655 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6159A>T (p.Pro2053=) |
single nucleotide variant |
KMT2D-related condition [RCV003949542] |
Chr12:49041941 [GRCh38]
Chr12:49435724 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6951T>C (p.Gly2317=) |
single nucleotide variant |
KMT2D-related condition [RCV003904394] |
Chr12:49040819 [GRCh38]
Chr12:49434602 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5441G>A (p.Arg1814Lys) |
single nucleotide variant |
not specified [RCV003988488] |
Chr12:49043661 [GRCh38]
Chr12:49437444 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15579T>A (p.Pro5193=) |
single nucleotide variant |
KMT2D-related condition [RCV003894209] |
Chr12:49026387 [GRCh38]
Chr12:49420170 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11076G>A (p.Leu3692=) |
single nucleotide variant |
KMT2D-related condition [RCV003913990] |
Chr12:49033629 [GRCh38]
Chr12:49427412 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1449G>A (p.Leu483=) |
single nucleotide variant |
KMT2D-related condition [RCV003934424] |
Chr12:49052234 [GRCh38]
Chr12:49446017 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2166G>A (p.Glu722=) |
single nucleotide variant |
KMT2D-related condition [RCV003897275] |
Chr12:49051517 [GRCh38]
Chr12:49445300 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1479C>T (p.Pro493=) |
single nucleotide variant |
KMT2D-related condition [RCV003894631] |
Chr12:49052204 [GRCh38]
Chr12:49445987 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11319C>T (p.Pro3773=) |
single nucleotide variant |
KMT2D-related condition [RCV003969032] |
Chr12:49033386 [GRCh38]
Chr12:49427169 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2157G>T (p.Pro719=) |
single nucleotide variant |
KMT2D-related condition [RCV003911528] |
Chr12:49051526 [GRCh38]
Chr12:49445309 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5477G>C (p.Gly1826Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003898996] |
Chr12:49043419 [GRCh38]
Chr12:49437202 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.15417G>A (p.Lys5139=) |
single nucleotide variant |
KMT2D-related condition [RCV003899013] |
Chr12:49026549 [GRCh38]
Chr12:49420332 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.6321C>T (p.Pro2107=) |
single nucleotide variant |
KMT2D-related condition [RCV003899010] |
Chr12:49041449 [GRCh38]
Chr12:49435232 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7743A>C (p.Thr2581=) |
single nucleotide variant |
KMT2D-related condition [RCV003899076] |
Chr12:49040027 [GRCh38]
Chr12:49433810 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3864G>A (p.Lys1288=) |
single nucleotide variant |
KMT2D-related condition [RCV003941919] |
Chr12:49049724 [GRCh38]
Chr12:49443507 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.10036T>G (p.Ser3346Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003899813] |
Chr12:49037320 [GRCh38]
Chr12:49431103 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12910C>T (p.Pro4304Ser) |
single nucleotide variant |
KMT2D-related condition [RCV003942191] |
Chr12:49031795 [GRCh38]
Chr12:49425578 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.8409C>T (p.Pro2803=) |
single nucleotide variant |
KMT2D-related condition [RCV003949442] |
Chr12:49038947 [GRCh38]
Chr12:49432730 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.12900A>G (p.Pro4300=) |
single nucleotide variant |
KMT2D-related condition [RCV003949524] |
Chr12:49031805 [GRCh38]
Chr12:49425588 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.11984T>C (p.Val3995Ala) |
single nucleotide variant |
KMT2D-related condition [RCV003949676] |
Chr12:49032721 [GRCh38]
Chr12:49426504 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.6858G>A (p.Glu2286=) |
single nucleotide variant |
KMT2D-related condition [RCV003894193] |
Chr12:49040912 [GRCh38]
Chr12:49434695 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7743A>G (p.Thr2581=) |
single nucleotide variant |
KMT2D-related condition [RCV003894346] |
Chr12:49040027 [GRCh38]
Chr12:49433810 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.5082T>G (p.Pro1694=) |
single nucleotide variant |
not provided [RCV003884946] |
Chr12:49044404 [GRCh38]
Chr12:49438187 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.693G>A (p.Val231=) |
single nucleotide variant |
KMT2D-related condition [RCV003944366] |
Chr12:49053622 [GRCh38]
Chr12:49447405 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3579C>T (p.Ala1193=) |
single nucleotide variant |
KMT2D-related condition [RCV003972212] |
Chr12:49050009 [GRCh38]
Chr12:49443792 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1749T>G (p.Pro583=) |
single nucleotide variant |
KMT2D-related condition [RCV003896305] |
Chr12:49051934 [GRCh38]
Chr12:49445717 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.2033C>A (p.Ser678Tyr) |
single nucleotide variant |
KMT2D-related condition [RCV003922188] |
Chr12:49051650 [GRCh38]
Chr12:49445433 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.12427G>T (p.Asp4143Tyr) |
single nucleotide variant |
KMT2D-related condition [RCV003896598] |
Chr12:49032278 [GRCh38]
Chr12:49426061 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.1886C>T (p.Pro629Leu) |
single nucleotide variant |
KMT2D-related condition [RCV003896640] |
Chr12:49051797 [GRCh38]
Chr12:49445580 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
| NM_003482.4(KMT2D):c.9618A>C (p.Gly3206=) |
single nucleotide variant |
KMT2D-related condition [RCV003896764] |
Chr12:49037738 [GRCh38]
Chr12:49431521 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.1218C>T (p.Pro406=) |
single nucleotide variant |
KMT2D-related condition [RCV003974423] |
Chr12:49052604 [GRCh38]
Chr12:49446387 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.7863C>G (p.Pro2621=) |
single nucleotide variant |
KMT2D-related condition [RCV003896967] |
Chr12:49039907 [GRCh38]
Chr12:49433690 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.839G>A (p.Arg280Lys) |
single nucleotide variant |
Kabuki syndrome 1 [RCV003890768] |
Chr12:49053476 [GRCh38]
Chr12:49447259 [GRCh37]
Chr12:12q13.12 |
likely pathogenic |
| NM_003482.4(KMT2D):c.7836T>C (p.Pro2612=) |
single nucleotide variant |
KMT2D-related condition [RCV003897041] |
Chr12:49039934 [GRCh38]
Chr12:49433717 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.15933G>A (p.Val5311=) |
single nucleotide variant |
KMT2D-related condition [RCV003969056] |
Chr12:49024697 [GRCh38]
Chr12:49418480 [GRCh37]
Chr12:12q13.12 |
likely benign |
| NM_003482.4(KMT2D):c.3773G>A (p.Arg1258Gln) |
single nucleotide variant |
KMT2D-related condition [RCV003947050] |
Chr12:49049815 [GRCh38]
Chr12:49443598 [GRCh37]
Chr12:12q13.12 |
uncertain significance |
