| NM_133433.4(NIPBL):c.2595dup (p.Leu866fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000553774] |
Chr5:36985772..36985773 [GRCh38]
Chr5:36985874..36985875 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001457247] |
Chr5:37007438 [GRCh38]
Chr5:37007540 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3583G>A (p.Asp1195Asn) |
single nucleotide variant |
not specified [RCV000516385] |
Chr5:37000997 [GRCh38]
Chr5:37001099 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2T>A (p.Met1Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000002221]|not provided [RCV004700178] |
Chr5:36953698 [GRCh38]
Chr5:36953800 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.7289A>G (p.Tyr2430Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000002222] |
Chr5:37057211 [GRCh38]
Chr5:37057313 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.150del (p.Asn51fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000002223] |
Chr5:36955557 [GRCh38]
Chr5:36955659 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7306dup (p.Ala2436fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000002224] |
Chr5:37057227..37057228 [GRCh38]
Chr5:37057329..37057330 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1547dup (p.Ala517fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000002225] |
Chr5:36984722..36984723 [GRCh38]
Chr5:36984824..36984825 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3616_3618del (p.Ile1206del) |
deletion |
Cornelia de Lange syndrome 1 [RCV000002226] |
Chr5:37001029..37001031 [GRCh38]
Chr5:37001131..37001133 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NIPBL, 2-BP DEL, 2479AG |
deletion |
Cornelia de Lange syndrome 1 [RCV000002227] |
Chr5:5p13.1 |
pathogenic |
| NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000002228] |
Chr5:37020615 [GRCh38]
Chr5:37020717 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3737C>G (p.Ala1246Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000002229] |
Chr5:37002734 [GRCh38]
Chr5:37002836 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7861-1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000002230] |
Chr5:37063789 [GRCh38]
Chr5:37063891 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NIPBL, IVS44DS, A-G, +4 |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000002231] |
Chr5:5p13.1 |
pathogenic |
| NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000002232] |
Chr5:37014728 [GRCh38]
Chr5:37014830 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.-321_-320delinsA |
indel |
Cornelia de Lange syndrome 1 [RCV000002233] |
Chr5:36876937..36876938 [GRCh38]
Chr5:36877039..36877040 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.3(NIPBL):c.3856-?_4239+?del |
deletion |
Cornelia de Lange syndrome 1 [RCV000656700] |
|
uncertain significance |
| NM_133433.4(NIPBL):c.5829dup (p.Gly1944fs) |
duplication |
not provided [RCV000627564] |
Chr5:37027378..37027379 [GRCh38]
Chr5:37027480..37027481 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603090]|not specified [RCV001290592] |
Chr5:37051812 [GRCh38]
Chr5:37051914 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.385del (p.Ser129fs) |
deletion |
not provided [RCV003321002] |
Chr5:36961508 [GRCh38]
Chr5:36961610 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7379C>G (p.Ser2460Cys) |
single nucleotide variant |
not provided [RCV000722364] |
Chr5:37057301 [GRCh38]
Chr5:37057403 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5863-10G>A |
single nucleotide variant |
not provided [RCV000727926] |
Chr5:37036369 [GRCh38]
Chr5:37036471 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3148G>T (p.Glu1050Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000542226] |
Chr5:36995648 [GRCh38]
Chr5:36995750 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6590-9C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001425225]|not provided [RCV000728675] |
Chr5:37048493 [GRCh38]
Chr5:37048595 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.7832A>G (p.Lys2611Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000551293] |
Chr5:37060990 [GRCh38]
Chr5:37061092 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000678375]|not provided [RCV000520338] |
Chr5:36985764 [GRCh38]
Chr5:36985866 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1352C>T (p.Ser451Phe) |
single nucleotide variant |
not specified [RCV000518768] |
Chr5:36976259 [GRCh38]
Chr5:36976361 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.10:g.(?_37045443)_(37048675_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV000550726] |
Chr5:37045443..37048675 [GRCh38]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6712del (p.Gln2238fs) |
deletion |
not provided [RCV000519550] |
Chr5:37048623 [GRCh38]
Chr5:37048725 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] |
Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1 |
pathogenic |
| GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 |
copy number gain |
See cases [RCV000051835] |
Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12 |
pathogenic |
| GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 |
copy number gain |
See cases [RCV000051836] |
Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1 |
pathogenic |
| GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3 |
copy number gain |
See cases [RCV000051837] |
Chr5:37016043..39383281 [GRCh38]
Chr5:37016145..39383383 [GRCh37]
Chr5:37051902..39419140 [NCBI36]
Chr5:5p13.2-13.1 |
pathogenic |
| GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 |
copy number gain |
See cases [RCV000051810] |
Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12 |
pathogenic |
| GRCh38/hg38 5p13.2(chr5:36886533-37331810)x3 |
copy number gain |
See cases [RCV000051704] |
Chr5:36886533..37331810 [GRCh38]
Chr5:36886635..37331912 [GRCh37]
Chr5:36922392..37367669 [NCBI36]
Chr5:5p13.2 |
uncertain significance |
| GRCh38/hg38 5p13.2(chr5:36906275-37606265)x3 |
copy number gain |
See cases [RCV000051705] |
Chr5:36906275..37606265 [GRCh38]
Chr5:36906377..37606367 [GRCh37]
Chr5:36942134..37642124 [NCBI36]
Chr5:5p13.2 |
uncertain significance |
| GRCh38/hg38 5p13.2(chr5:36834830-36906334)x1 |
copy number loss |
See cases [RCV000053450] |
Chr5:36834830..36906334 [GRCh38]
Chr5:36834932..36906436 [GRCh37]
Chr5:36870689..36942193 [NCBI36]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter) |
duplication |
Cornelia de Lange syndrome 1 [RCV000086393] |
Chr5:37060963..37060964 [GRCh38]
Chr5:37061065..37061066 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086365]|not provided [RCV000959648] |
Chr5:36976119 [GRCh38]
Chr5:36976221 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086366]|NIPBL-related disorder [RCV003935082]|not provided [RCV000724758] |
Chr5:36955540 [GRCh38]
Chr5:36955642 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000086367] |
Chr5:36976347..36976350 [GRCh38]
Chr5:36976449..36976452 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1526C>G (p.Ser509Cys) |
single nucleotide variant |
not specified [RCV000146523] |
Chr5:36984706 [GRCh38]
Chr5:36984808 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.192del (p.Gln64fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000086369] |
Chr5:36955599 [GRCh38]
Chr5:36955701 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000872824]|Inborn genetic diseases [RCV002313841]|not specified [RCV000146528] |
Chr5:36985145 [GRCh38]
Chr5:36985247 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2592T>A (p.Asp864Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157505]|Inborn genetic diseases [RCV004955277]|not specified [RCV000146552] |
Chr5:36985772 [GRCh38]
Chr5:36985874 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086375]|not provided [RCV001090998] |
Chr5:37000513 [GRCh38]
Chr5:37000615 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086376]|Inborn genetic diseases [RCV002316288]|not provided [RCV000712415]|not specified [RCV000250063] |
Chr5:37006398 [GRCh38]
Chr5:37006500 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000086377] |
Chr5:37008049..37008058 [GRCh38]
Chr5:37008151..37008160 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086378] |
Chr5:37010087 [GRCh38]
Chr5:37010189 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086379] |
Chr5:37010176 [GRCh38]
Chr5:37010278 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000086380] |
Chr5:37017045..37017046 [GRCh38]
Chr5:37017147..37017148 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086381]|Inborn genetic diseases [RCV004019588]|not provided [RCV003236776] |
Chr5:37022088 [GRCh38]
Chr5:37022190 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086383]|not provided [RCV002281922] |
Chr5:37022272 [GRCh38]
Chr5:37022374 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
| NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086384] |
Chr5:37022382 [GRCh38]
Chr5:37022484 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086385] |
Chr5:36962249 [GRCh38]
Chr5:36962351 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086386] |
Chr5:37048543 [GRCh38]
Chr5:37048645 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000086387] |
Chr5:37048552..37048558 [GRCh38]
Chr5:37048654..37048660 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086388]|not provided [RCV004721262] |
Chr5:37049239 [GRCh38]
Chr5:37049341 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086389]|not provided [RCV000412771] |
Chr5:37057223 [GRCh38]
Chr5:37057325 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter) |
single nucleotide variant |
Abnormal brain morphology [RCV001526581]|Cornelia de Lange syndrome 1 [RCV000086390] |
Chr5:37057249 [GRCh38]
Chr5:37057351 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7727A>G (p.Tyr2576Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002513928]|not specified [RCV000146732] |
Chr5:37060885 [GRCh38]
Chr5:37060987 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.7789del (p.Leu2597fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000086392]|NIPBL-related disorder [RCV003964960]|not provided [RCV000256022] |
Chr5:37060946 [GRCh38]
Chr5:37061048 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1495+8_1495+10del |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000871366]|De Lange syndrome [RCV000314623]|not provided [RCV001573248]|not specified [RCV000082479] |
Chr5:36976407..36976409 [GRCh38]
Chr5:36976509..36976511 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001079668]|Inborn genetic diseases [RCV002313830]|not provided [RCV000513958]|not specified [RCV000146529] |
Chr5:36985165 [GRCh38]
Chr5:36985267 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters |
| NM_133433.4(NIPBL):c.198C>G (p.Val66=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000528247]|Inborn genetic diseases [RCV002415583]|not provided [RCV001576717]|not specified [RCV000082481] |
Chr5:36955605 [GRCh38]
Chr5:36955707 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086371]|Inborn genetic diseases [RCV002311733]|not provided [RCV000712413]|not specified [RCV000082482] |
Chr5:36985201 [GRCh38]
Chr5:36985303 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001155803]|Inborn genetic diseases [RCV002426647]|NIPBL-related disorder [RCV003945029]|not provided [RCV000723636]|not specified [RCV000146544] |
Chr5:36985627 [GRCh38]
Chr5:36985729 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000541253]|Inborn genetic diseases [RCV002311734]|not provided [RCV004715661]|not specified [RCV000082484] |
Chr5:36985649 [GRCh38]
Chr5:36985751 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146547]|not provided [RCV000082485] |
Chr5:36985659..36985660 [GRCh38]
Chr5:36985761..36985762 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146553]|NIPBL-related disorder [RCV003925084]|not provided [RCV000790717] |
Chr5:36985782 [GRCh38]
Chr5:36985884 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2626dup (p.Asp876fs) |
duplication |
not provided [RCV000173920] |
Chr5:36985802..36985803 [GRCh38]
Chr5:36985904..36985905 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086374]|Inborn genetic diseases [RCV002311735]|not provided [RCV004715662]|not specified [RCV000082488] |
Chr5:36986195 [GRCh38]
Chr5:36986297 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.3575-17A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807038]|not provided [RCV001636652]|not specified [RCV000082489] |
Chr5:37000972 [GRCh38]
Chr5:37001074 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.4421+7A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000870939]|not provided [RCV004715663]|not specified [RCV000082490] |
Chr5:37008730 [GRCh38]
Chr5:37008832 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.4561-9T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000870940]|not provided [RCV001668211]|not specified [RCV000082491] |
Chr5:37014674 [GRCh38]
Chr5:37014776 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001088813]|Inborn genetic diseases [RCV002345401]|not provided [RCV000419655]|not specified [RCV000146640] |
Chr5:36962199 [GRCh38]
Chr5:36962301 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000086382]|Inborn genetic diseases [RCV002345402]|not provided [RCV000790730] |
Chr5:37022256 [GRCh38]
Chr5:37022358 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5786A>G (p.Lys1929Arg) |
single nucleotide variant |
not provided [RCV000082494] |
Chr5:37026305 [GRCh38]
Chr5:37026407 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5863-31TA[9] |
microsatellite |
not provided [RCV001594832]|not specified [RCV000082495] |
Chr5:37036348..37036349 [GRCh38]
Chr5:37036450..37036451 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5863-31TA[11] |
microsatellite |
not provided [RCV000082496]|not specified [RCV000604035] |
Chr5:37036347..37036348 [GRCh38]
Chr5:37036449..37036450 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000330558]|Inborn genetic diseases [RCV002311736]|not provided [RCV004716937]|not specified [RCV000082497] |
Chr5:37036390 [GRCh38]
Chr5:37036492 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.6109-3T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000614790]|Inborn genetic diseases [RCV002311737]|NIPBL-related disorder [RCV003891578]|not provided [RCV000431680]|not specified [RCV000082498] |
Chr5:37044344 [GRCh38]
Chr5:37044446 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.6557A>G (p.Glu2186Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002514444]|not provided [RCV000082499] |
Chr5:37046167 [GRCh38]
Chr5:37046269 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7047T>G (p.Tyr2349Ter) |
single nucleotide variant |
not provided [RCV000082500] |
Chr5:37051871 [GRCh38]
Chr5:37051973 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146719]|not provided [RCV000790738] |
Chr5:37052522 [GRCh38]
Chr5:37052624 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002513850]|not provided [RCV000082502] |
Chr5:37059082 [GRCh38]
Chr5:37059184 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.772-8A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807039]|not provided [RCV000082503] |
Chr5:36971937 [GRCh38]
Chr5:36972039 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146743]|not provided [RCV000790740] |
Chr5:37064854 [GRCh38]
Chr5:37064956 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000119818] |
Chr5:37022100 [GRCh38]
Chr5:37022202 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.617T>A (p.Val206Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001349299] |
Chr5:36970882 [GRCh38]
Chr5:36970984 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| Single allele |
duplication |
Cornelia de Lange syndrome 1 [RCV000173920] |
Chr5:36985908..36985909 [GRCh37] |
pathogenic |
| NM_133433.4(NIPBL):c.6763+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001224317] |
Chr5:37048676 [GRCh38]
Chr5:37048778 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.10:g.(?_36953616)_(37017182_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001032871] |
Chr5:36953718..37017284 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5808+2T>G |
single nucleotide variant |
not provided [RCV000177577] |
Chr5:37026329 [GRCh38]
Chr5:37026431 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6955-9del |
deletion |
Cornelia de Lange syndrome 1 [RCV001807113]|not specified [RCV000178474] |
Chr5:37051760 [GRCh38]
Chr5:37051862 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.7463A>G (p.Asn2488Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002517738]|Inborn genetic diseases [RCV002390437]|not specified [RCV000178558] |
Chr5:37058943 [GRCh38]
Chr5:37059045 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6108+1G>C |
single nucleotide variant |
not provided [RCV000177818] |
Chr5:37038739 [GRCh38]
Chr5:37038841 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1152T>A (p.Asn384Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001331664] |
Chr5:36976059 [GRCh38]
Chr5:36976161 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7523A>G (p.Asp2508Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001332858] |
Chr5:37059003 [GRCh38]
Chr5:37059105 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1582A>T (p.Thr528Ser) |
single nucleotide variant |
not provided [RCV000173916] |
Chr5:36984762 [GRCh38]
Chr5:36984864 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000260735]|Inborn genetic diseases [RCV004639161]|not provided [RCV000173918] |
Chr5:36985013 [GRCh38]
Chr5:36985115 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2743A>G (p.Ser915Gly) |
single nucleotide variant |
not provided [RCV000173919] |
Chr5:36985923 [GRCh38]
Chr5:36986025 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807110]|not provided [RCV000174414] |
Chr5:37000549 [GRCh38]
Chr5:37000651 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.*84del |
deletion |
not specified [RCV000146508] |
Chr5:37064968 [GRCh38]
Chr5:37065070 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1003del (p.Glu335fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146509] |
Chr5:36975910 [GRCh38]
Chr5:36976012 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146510] |
Chr5:36975937..36975940 [GRCh38]
Chr5:36976039..36976042 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001151937]|Inborn genetic diseases [RCV002312963]|not provided [RCV000954535]|not specified [RCV000146511] |
Chr5:36975963 [GRCh38]
Chr5:36976065 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146512] |
Chr5:36975964 [GRCh38]
Chr5:36976066 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146513] |
Chr5:36975992..36975993 [GRCh38]
Chr5:36976094..36976095 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1150A>G (p.Asn384Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603044]|not specified [RCV000146514] |
Chr5:36976057 [GRCh38]
Chr5:36976159 [GRCh37]
Chr5:5p13.2 |
benign|uncertain significance |
| NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000954334]|not specified [RCV000146515] |
Chr5:36976058 [GRCh38]
Chr5:36976160 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146516] |
Chr5:36976090 [GRCh38]
Chr5:36976192 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146517] |
Chr5:36976204 [GRCh38]
Chr5:36976306 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146518] |
Chr5:36976279 [GRCh38]
Chr5:36976381 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146519] |
Chr5:36976347..36976348 [GRCh38]
Chr5:36976449..36976450 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146520] |
Chr5:36955552 [GRCh38]
Chr5:36955654 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146521] |
Chr5:36976384 [GRCh38]
Chr5:36976486 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146522] |
Chr5:36984691..36984694 [GRCh38]
Chr5:36984793..36984796 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146524] |
Chr5:36984756 [GRCh38]
Chr5:36984858 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146525]|Inborn genetic diseases [RCV002514822]|NIPBL-related disorder [RCV003917446] |
Chr5:36984771 [GRCh38]
Chr5:36984873 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.1753del (p.Ile585fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146526] |
Chr5:36984933 [GRCh38]
Chr5:36985035 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146527]|not provided [RCV000725320] |
Chr5:36985065 [GRCh38]
Chr5:36985167 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146531] |
Chr5:36955605..36955616 [GRCh38]
Chr5:36955707..36955718 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2046del (p.Lys682fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146532] |
Chr5:36985223 [GRCh38]
Chr5:36985325 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146533] |
Chr5:36985245 [GRCh38]
Chr5:36985347 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146534] |
Chr5:36955613 [GRCh38]
Chr5:36955715 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146535] |
Chr5:36985273 [GRCh38]
Chr5:36985375 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146536] |
Chr5:36985285..36985286 [GRCh38]
Chr5:36985387..36985388 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2108del (p.Pro703fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146537] |
Chr5:36985285 [GRCh38]
Chr5:36985387 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146538]|Inborn genetic diseases [RCV002444602] |
Chr5:36985436 [GRCh38]
Chr5:36985538 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146539] |
Chr5:36985440 [GRCh38]
Chr5:36985542 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146540]|Inborn genetic diseases [RCV002316933]|not provided [RCV000513777]|not specified [RCV000254129] |
Chr5:36985474 [GRCh38]
Chr5:36985576 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2325A>G (p.Lys775=) |
single nucleotide variant |
not specified [RCV000146541] |
Chr5:36985505 [GRCh38]
Chr5:36985607 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146542]|not provided [RCV002512063] |
Chr5:36985569 [GRCh38]
Chr5:36985671 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146543]|not provided [RCV004700464] |
Chr5:36985602 [GRCh38]
Chr5:36985704 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2451C>T (p.Asp817=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002055906]|NIPBL-related disorder [RCV004739468]|not specified [RCV000146545] |
Chr5:36985631 [GRCh38]
Chr5:36985733 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146546]|Inborn genetic diseases [RCV002316934] |
Chr5:36985651 [GRCh38]
Chr5:36985753 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146548] |
Chr5:36985669 [GRCh38]
Chr5:36985771 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146549] |
Chr5:36985674 [GRCh38]
Chr5:36985776 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146550]|not provided [RCV001551507] |
Chr5:36985680 [GRCh38]
Chr5:36985782 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2505G>T (p.Gly835=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146551] |
Chr5:36985685 [GRCh38]
Chr5:36985787 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2673C>T (p.Asp891=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157506]|Inborn genetic diseases [RCV002312645]|not specified [RCV000146554] |
Chr5:36985853 [GRCh38]
Chr5:36985955 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2711del (p.Arg904fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146555] |
Chr5:36985891 [GRCh38]
Chr5:36985993 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2772C>T (p.Asn924=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497835]|not specified [RCV000146556] |
Chr5:36985952 [GRCh38]
Chr5:36986054 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146557] |
Chr5:36985953..36985954 [GRCh38]
Chr5:36986055..36986056 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146558] |
Chr5:36986012 [GRCh38]
Chr5:36986114 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146559]|Inborn genetic diseases [RCV002433630]|not provided [RCV001709496] |
Chr5:36986083 [GRCh38]
Chr5:36986185 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2903del (p.Asn968fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146560] |
Chr5:36986082 [GRCh38]
Chr5:36986184 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2931A>G (p.Glu977=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157508]|Inborn genetic diseases [RCV002433631]|not provided [RCV001711307]|not specified [RCV000146561] |
Chr5:36986111 [GRCh38]
Chr5:36986213 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.294C>T (p.Ala98=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000401918]|Inborn genetic diseases [RCV002433632]|not provided [RCV000945874]|not specified [RCV000146562] |
Chr5:36958167 [GRCh38]
Chr5:36958269 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146563]|not provided [RCV000255232] |
Chr5:36986238..36986241 [GRCh38]
Chr5:36986340..36986343 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146564] |
Chr5:36986283 [GRCh38]
Chr5:36986385 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146565]|not provided [RCV000439281] |
Chr5:36986289 [GRCh38]
Chr5:36986391 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.310_317del (p.Pro104fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146566] |
Chr5:36958181..36958188 [GRCh38]
Chr5:36958283..36958290 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3121+11T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000384599]|not provided [RCV004717068]|not specified [RCV000146567] |
Chr5:36986312 [GRCh38]
Chr5:36986414 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.3122-2A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146568] |
Chr5:36995620 [GRCh38]
Chr5:36995722 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3304+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146569] |
Chr5:36995809 [GRCh38]
Chr5:36995911 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3305-1G>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146570] |
Chr5:37000372 [GRCh38]
Chr5:37000474 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146571] |
Chr5:37000390 [GRCh38]
Chr5:37000492 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146572] |
Chr5:36958205 [GRCh38]
Chr5:36958307 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146573] |
Chr5:37000437 [GRCh38]
Chr5:37000539 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146574]|Inborn genetic diseases [RCV002453469]|not provided [RCV001682850]|not specified [RCV000245614] |
Chr5:37000491 [GRCh38]
Chr5:37000593 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146575] |
Chr5:37000508 [GRCh38]
Chr5:37000610 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.345A>G (p.Arg115=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146576] |
Chr5:36958218 [GRCh38]
Chr5:36958320 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146577] |
Chr5:37000528..37000529 [GRCh38]
Chr5:37000630..37000631 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3503-9T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146578] |
Chr5:37000808 [GRCh38]
Chr5:37000910 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146579] |
Chr5:37000836..37000840 [GRCh38]
Chr5:37000938..37000942 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001085566]|Inborn genetic diseases [RCV002312646]|not provided [RCV000826328]|not specified [RCV000146580] |
Chr5:37000855 [GRCh38]
Chr5:37000957 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.3575-3C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146581] |
Chr5:37000986 [GRCh38]
Chr5:37001088 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.358+1G>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146582] |
Chr5:36958232 [GRCh38]
Chr5:36958334 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.358+5G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146583] |
Chr5:36958236 [GRCh38]
Chr5:36958338 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3616A>G (p.Ile1206Val) |
single nucleotide variant |
not specified [RCV000146584] |
Chr5:37001030 [GRCh38]
Chr5:37001132 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3660G>A (p.Ala1220=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001152039]|not provided [RCV000937244]|not specified [RCV000146585] |
Chr5:37001074 [GRCh38]
Chr5:37001176 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146586] |
Chr5:37003278..37003279 [GRCh38]
Chr5:37003380..37003381 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146587] |
Chr5:37003291..37003305 [GRCh38]
Chr5:37003393..37003407 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146588] |
Chr5:37003310 [GRCh38]
Chr5:37003412 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146589] |
Chr5:37003343 [GRCh38]
Chr5:37003445 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3855+1G>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146590] |
Chr5:37003348 [GRCh38]
Chr5:37003450 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3855+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146591] |
Chr5:37003352 [GRCh38]
Chr5:37003454 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.3856-12A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146592] |
Chr5:37006345 [GRCh38]
Chr5:37006447 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146593] |
Chr5:37006366..37006369 [GRCh38]
Chr5:37006468..37006471 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146594]|Inborn genetic diseases [RCV002514823] |
Chr5:37006369 [GRCh38]
Chr5:37006471 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146595]|not provided [RCV003326358] |
Chr5:37006375 [GRCh38]
Chr5:37006477 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3G>T (p.Met1Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146596] |
Chr5:36953699 [GRCh38]
Chr5:36953801 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146597] |
Chr5:37006518 [GRCh38]
Chr5:37006620 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4088-2A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146598] |
Chr5:37007321 [GRCh38]
Chr5:37007423 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146599] |
Chr5:37007332..37007335 [GRCh38]
Chr5:37007434..37007437 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146600] |
Chr5:37007374..37007375 [GRCh38]
Chr5:37007476..37007477 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4240-14T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000334474]|not provided [RCV004715739]|not specified [RCV000146601] |
Chr5:37007994 [GRCh38]
Chr5:37008096 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.4240-1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146602] |
Chr5:37008007 [GRCh38]
Chr5:37008109 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4240-7T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000755645]|not provided [RCV004710551]|not specified [RCV000146603] |
Chr5:37008001 [GRCh38]
Chr5:37008103 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146604] |
Chr5:37008042..37008054 [GRCh38]
Chr5:37008144..37008156 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4320+14A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000395753]|not specified [RCV000146605] |
Chr5:37008102 [GRCh38]
Chr5:37008204 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.4320+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146606] |
Chr5:37008089 [GRCh38]
Chr5:37008191 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4321-15A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146607] |
Chr5:37008608 [GRCh38]
Chr5:37008710 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146608] |
Chr5:37008723 [GRCh38]
Chr5:37008825 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146609] |
Chr5:37010104 [GRCh38]
Chr5:37010206 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.4535A>T (p.Asn1512Ile) |
single nucleotide variant |
not specified [RCV000146610] |
Chr5:37010200 [GRCh38]
Chr5:37010302 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146611] |
Chr5:37010208 [GRCh38]
Chr5:37010310 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4561-16C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807083]|not provided [RCV004715740]|not specified [RCV000146612] |
Chr5:37014667 [GRCh38]
Chr5:37014769 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.456del (p.Ser153fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146613] |
Chr5:36961580 [GRCh38]
Chr5:36961682 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146614] |
Chr5:37014715 [GRCh38]
Chr5:37014817 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4636del (p.Lys1548fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146615] |
Chr5:37014757 [GRCh38]
Chr5:37014859 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4643+1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146616] |
Chr5:37014766 [GRCh38]
Chr5:37014868 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4663del (p.Glu1555fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146617] |
Chr5:37016057 [GRCh38]
Chr5:37016159 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4674C>T (p.Tyr1558=) |
single nucleotide variant |
not specified [RCV000146618] |
Chr5:37016068 [GRCh38]
Chr5:37016170 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146619] |
Chr5:37016076..37016079 [GRCh38]
Chr5:37016178..37016181 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146620] |
Chr5:37016106 [GRCh38]
Chr5:37016208 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146621]|Inborn genetic diseases [RCV002336290]|not provided [RCV001719918]|not specified [RCV000312727] |
Chr5:37016125 [GRCh38]
Chr5:37016227 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.4773G>T (p.Leu1591=) |
single nucleotide variant |
not specified [RCV000146622] |
Chr5:37016167 [GRCh38]
Chr5:37016269 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4777-12T>C |
single nucleotide variant |
not specified [RCV000146623] |
Chr5:37017007 [GRCh38]
Chr5:37017109 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146624] |
Chr5:37017058..37017059 [GRCh38]
Chr5:37017160..37017161 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001155911]|Inborn genetic diseases [RCV002316935]|NIPBL-related disorder [RCV003945171]|not provided [RCV003422033]|not specified [RCV000146625] |
Chr5:37019349 [GRCh38]
Chr5:37019451 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.5010+9C>A |
single nucleotide variant |
not specified [RCV000146626] |
Chr5:37019409 [GRCh38]
Chr5:37019511 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146627] |
Chr5:37020480..37020486 [GRCh38]
Chr5:37020582..37020588 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5174del (p.Lys1725fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146628] |
Chr5:37020617 [GRCh38]
Chr5:37020719 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5211G>A (p.Gln1737=) |
single nucleotide variant |
not specified [RCV000146629] |
Chr5:37020659 [GRCh38]
Chr5:37020761 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5225+13G>A |
single nucleotide variant |
not specified [RCV000146630] |
Chr5:37020686 [GRCh38]
Chr5:37020788 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5226-14A>G |
single nucleotide variant |
not specified [RCV000146631] |
Chr5:37020761 [GRCh38]
Chr5:37020863 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5272C>A (p.Arg1758=) |
single nucleotide variant |
not specified [RCV000146632] |
Chr5:37020821 [GRCh38]
Chr5:37020923 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146633] |
Chr5:37020876 [GRCh38]
Chr5:37020978 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5328+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146634] |
Chr5:37020878 [GRCh38]
Chr5:37020980 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5329-15A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000795862]|Inborn genetic diseases [RCV002515967]|NIPBL-related disorder [RCV003415975]|not provided [RCV001582611] |
Chr5:37022036 [GRCh38]
Chr5:37022138 [GRCh37]
Chr5:5p13.2 |
pathogenic|benign |
| NM_133433.4(NIPBL):c.5329-1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146636] |
Chr5:37022050 [GRCh38]
Chr5:37022152 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146637] |
Chr5:37022052 [GRCh38]
Chr5:37022154 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146638] |
Chr5:37022057 [GRCh38]
Chr5:37022159 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157403]|Inborn genetic diseases [RCV002316936]|NIPBL-related disorder [RCV003952702]|not provided [RCV000951209]|not specified [RCV000146639] |
Chr5:36962198 [GRCh38]
Chr5:36962300 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146641]|not provided [RCV002277289] |
Chr5:37022087 [GRCh38]
Chr5:37022189 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146642] |
Chr5:37022109..37022112 [GRCh38]
Chr5:37022211..37022214 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5428-2A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146643] |
Chr5:37022242 [GRCh38]
Chr5:37022344 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146644]|not provided [RCV003148658] |
Chr5:37022271 [GRCh38]
Chr5:37022373 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146645] |
Chr5:37022280 [GRCh38]
Chr5:37022382 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146646]|not provided [RCV004815206] |
Chr5:37022281 [GRCh38]
Chr5:37022383 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146647]|not provided [RCV004721275] |
Chr5:37022298 [GRCh38]
Chr5:37022400 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146648] |
Chr5:37022299 [GRCh38]
Chr5:37022401 [GRCh37]
Chr5:5p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.5690A>G (p.Asn1897Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001849985]|not provided [RCV001582612]|not specified [RCV000146649] |
Chr5:37024700 [GRCh38]
Chr5:37024802 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.5709+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146650] |
Chr5:37024720 [GRCh38]
Chr5:37024822 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.5709+2T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146651] |
Chr5:37024721 [GRCh38]
Chr5:37024823 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5709+7T>G |
single nucleotide variant |
not specified [RCV000146652] |
Chr5:37024726 [GRCh38]
Chr5:37024828 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146653] |
Chr5:37026251 [GRCh38]
Chr5:37026353 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5762A>G (p.Asn1921Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001227332]|not specified [RCV000146654] |
Chr5:37026281 [GRCh38]
Chr5:37026383 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.5808+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146655] |
Chr5:37026328 [GRCh38]
Chr5:37026430 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5862+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146656] |
Chr5:37027413 [GRCh38]
Chr5:37027515 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146657] |
Chr5:37036439 [GRCh38]
Chr5:37036541 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146658] |
Chr5:37036437..37036439 [GRCh38]
Chr5:37036539..37036541 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146659] |
Chr5:37036460 [GRCh38]
Chr5:37036562 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5981A>G (p.Asn1994Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157612]|NIPBL-related disorder [RCV003965104]|not specified [RCV000146660] |
Chr5:37038611 [GRCh38]
Chr5:37038713 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146661] |
Chr5:36962262 [GRCh38]
Chr5:36962364 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146662] |
Chr5:37038667 [GRCh38]
Chr5:37038769 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146663] |
Chr5:37038697 [GRCh38]
Chr5:37038799 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146664] |
Chr5:37038698 [GRCh38]
Chr5:37038800 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146665] |
Chr5:37038701 [GRCh38]
Chr5:37038803 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.610+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146666] |
Chr5:36962275 [GRCh38]
Chr5:36962377 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6108+1G>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146667] |
Chr5:37038739 [GRCh38]
Chr5:37038841 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6108+7A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146668] |
Chr5:37038745 [GRCh38]
Chr5:37038847 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.611-10T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146669] |
Chr5:36970866 [GRCh38]
Chr5:36970968 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6145A>G (p.Lys2049Glu) |
single nucleotide variant |
not specified [RCV000146670] |
Chr5:37044383 [GRCh38]
Chr5:37044485 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146671] |
Chr5:37044396 [GRCh38]
Chr5:37044498 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.615G>A (p.Ser205=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001088387]|Inborn genetic diseases [RCV002354334]|not provided [RCV000726388]|not specified [RCV000146672] |
Chr5:36970880 [GRCh38]
Chr5:36970982 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146673] |
Chr5:37044408 [GRCh38]
Chr5:37044510 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146674] |
Chr5:37044420 [GRCh38]
Chr5:37044522 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146675] |
Chr5:37044480 [GRCh38]
Chr5:37044582 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6250-6T>C |
single nucleotide variant |
not specified [RCV000146676] |
Chr5:37044630 [GRCh38]
Chr5:37044732 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146677] |
Chr5:37044636 [GRCh38]
Chr5:37044738 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146678] |
Chr5:37044652 [GRCh38]
Chr5:37044754 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146679] |
Chr5:37044702 [GRCh38]
Chr5:37044804 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146680] |
Chr5:37044701..37044704 [GRCh38]
Chr5:37044803..37044806 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807084]|not provided [RCV000726395]|not specified [RCV000146681] |
Chr5:37044708 [GRCh38]
Chr5:37044810 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6343+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146682] |
Chr5:37044734 [GRCh38]
Chr5:37044836 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146683] |
Chr5:37044729 [GRCh38]
Chr5:37044831 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146684] |
Chr5:37045459..37045461 [GRCh38]
Chr5:37045561..37045563 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.64+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146685] |
Chr5:36953761 [GRCh38]
Chr5:36953863 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.64+3A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146686] |
Chr5:36953763 [GRCh38]
Chr5:36953865 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.64+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146687]|not provided [RCV003318555] |
Chr5:36953765 [GRCh38]
Chr5:36953867 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807085]|not provided [RCV000731417]|not specified [RCV000146688] |
Chr5:37045499 [GRCh38]
Chr5:37045601 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146689]|Inborn genetic diseases [RCV002512579]|not specified [RCV002247539] |
Chr5:37045577 [GRCh38]
Chr5:37045679 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.65-5A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146690] |
Chr5:36955467 [GRCh38]
Chr5:36955569 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146691] |
Chr5:37046175 [GRCh38]
Chr5:37046277 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146692] |
Chr5:37046178 [GRCh38]
Chr5:37046280 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146693] |
Chr5:37046181 [GRCh38]
Chr5:37046283 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6589+9A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146694]|not specified [RCV000734267] |
Chr5:37046208 [GRCh38]
Chr5:37046310 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6590-2A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146695] |
Chr5:37048500 [GRCh38]
Chr5:37048602 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146696] |
Chr5:37048502 [GRCh38]
Chr5:37048604 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807086]|Inborn genetic diseases [RCV002312647]|not specified [RCV000146697] |
Chr5:37048525 [GRCh38]
Chr5:37048627 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146698] |
Chr5:37048541..37048543 [GRCh38]
Chr5:37048643..37048645 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146699] |
Chr5:37048558 [GRCh38]
Chr5:37048660 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146700] |
Chr5:37048556..37048557 [GRCh38]
Chr5:37048658..37048659 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146701]|not provided [RCV001564728] |
Chr5:37048559..37048561 [GRCh38]
Chr5:37048661..37048663 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146702] |
Chr5:37048619 [GRCh38]
Chr5:37048721 [GRCh37]
Chr5:5p13.2 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.678G>A (p.Pro226=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146703] |
Chr5:36970943 [GRCh38]
Chr5:36971045 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146704]|not provided [RCV001552677] |
Chr5:37049239 [GRCh38]
Chr5:37049341 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146705]|NIPBL-related disorder [RCV003398785]|not provided [RCV000524005] |
Chr5:37049240 [GRCh38]
Chr5:37049342 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146706] |
Chr5:37049282 [GRCh38]
Chr5:37049384 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146707] |
Chr5:37049299 [GRCh38]
Chr5:37049401 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6954+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146708] |
Chr5:37049302 [GRCh38]
Chr5:37049404 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146709] |
Chr5:37051817 [GRCh38]
Chr5:37051919 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146710] |
Chr5:37051835..37051836 [GRCh38]
Chr5:37051937..37051938 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146711]|not provided [RCV000361663] |
Chr5:37051836 [GRCh38]
Chr5:37051938 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146712] |
Chr5:37051848 [GRCh38]
Chr5:37051950 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7062+2T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146713] |
Chr5:37051888 [GRCh38]
Chr5:37051990 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146714] |
Chr5:37052405 [GRCh38]
Chr5:37052507 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7106del (p.Gln2369fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146715] |
Chr5:37052409 [GRCh38]
Chr5:37052511 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146716] |
Chr5:37052444 [GRCh38]
Chr5:37052546 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146717]|Inborn genetic diseases [RCV002371984]|NIPBL-related disorder [RCV003407564]|not provided [RCV000494480] |
Chr5:37052471 [GRCh38]
Chr5:37052573 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.7198del (p.Arg2400fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146718]|NIPBL-related disorder [RCV004724927] |
Chr5:37052500 [GRCh38]
Chr5:37052602 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7264-6T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146720] |
Chr5:37057180 [GRCh38]
Chr5:37057282 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146721] |
Chr5:37057228 [GRCh38]
Chr5:37057330 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146722] |
Chr5:37057257..37057259 [GRCh38]
Chr5:37057359..37057361 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146723] |
Chr5:37057270..37057272 [GRCh38]
Chr5:37057372..37057374 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146724]|NIPBL-related disorder [RCV003415976] |
Chr5:36971002 [GRCh38]
Chr5:36971104 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146725]|NIPBL-related disorder [RCV004739469]|not provided [RCV000599444] |
Chr5:37058914..37058915 [GRCh38]
Chr5:37059016..37059017 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7524TTCAGA[3] (p.2508DS[3]) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000146726]|Inborn genetic diseases [RCV002390303]|Intellectual disability [RCV001251850]|not specified [RCV004998300] |
Chr5:37059001..37059006 [GRCh38]
Chr5:37059103..37059108 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146727] |
Chr5:37059105 [GRCh38]
Chr5:37059207 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146728]|Inborn genetic diseases [RCV002312964] |
Chr5:37059121 [GRCh38]
Chr5:37059223 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146729] |
Chr5:37060854..37060878 [GRCh38]
Chr5:37060956..37060980 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.771+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146730]|Inborn genetic diseases [RCV001266498]|not provided [RCV000725345] |
Chr5:36971037 [GRCh38]
Chr5:36971139 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.772-1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146731] |
Chr5:36971944 [GRCh38]
Chr5:36972046 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000872437]|Inborn genetic diseases [RCV002312965]|not provided [RCV004715741]|not specified [RCV000146733] |
Chr5:36971954 [GRCh38]
Chr5:36972056 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000870532]|Inborn genetic diseases [RCV002312648]|not provided [RCV002262753]|not specified [RCV000146734] |
Chr5:37060988 [GRCh38]
Chr5:37061090 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146735] |
Chr5:37061007 [GRCh38]
Chr5:37061109 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7860+9T>G |
single nucleotide variant |
not specified [RCV000146736] |
Chr5:37061027 [GRCh38]
Chr5:37061129 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146737] |
Chr5:37064642..37064660 [GRCh38]
Chr5:37064744..37064762 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146738] |
Chr5:37064650 [GRCh38]
Chr5:37064752 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.8225G>T (p.Gly2742Val) |
single nucleotide variant |
not specified [RCV000146739] |
Chr5:37064702 [GRCh38]
Chr5:37064804 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146740] |
Chr5:37064752..37064758 [GRCh38]
Chr5:37064854..37064860 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146741] |
Chr5:37064776..37064777 [GRCh38]
Chr5:37064878..37064879 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8336C>T (p.Thr2779Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146742]|not provided [RCV001753523] |
Chr5:37064813 [GRCh38]
Chr5:37064915 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8408C>G (p.Ser2803Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001152141]|Inborn genetic diseases [RCV002444603]|not specified [RCV000146744] |
Chr5:37064885 [GRCh38]
Chr5:37064987 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.869-1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146745] |
Chr5:36975775 [GRCh38]
Chr5:36975877 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.86del (p.Pro29fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146746] |
Chr5:36955492 [GRCh38]
Chr5:36955594 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.87A>G (p.Pro29=) |
single nucleotide variant |
not specified [RCV000146747] |
Chr5:36955494 [GRCh38]
Chr5:36955596 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146748] |
Chr5:36975799 [GRCh38]
Chr5:36975901 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.892del (p.Gln298fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000146749] |
Chr5:36975799 [GRCh38]
Chr5:36975901 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.894A>G (p.Gln298=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146750]|NIPBL-related disorder [RCV003965105]|not provided [RCV004721276] |
Chr5:36975801 [GRCh38]
Chr5:36975903 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000146751]|not provided [RCV004700465] |
Chr5:36975829 [GRCh38]
Chr5:36975931 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh38/hg38 5p13.2(chr5:36570605-37060917)x3 |
copy number gain |
See cases [RCV000134184] |
Chr5:36570605..37060917 [GRCh38]
Chr5:36570707..37061019 [GRCh37]
Chr5:36606464..37096776 [NCBI36]
Chr5:5p13.2 |
uncertain significance |
| GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 |
copy number gain |
See cases [RCV000135453] |
Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11 |
pathogenic |
| GRCh38/hg38 5p13.2(chr5:37054860-37586108)x3 |
copy number gain |
See cases [RCV000136721] |
Chr5:37054860..37586108 [GRCh38]
Chr5:37054962..37586210 [GRCh37]
Chr5:37090719..37621967 [NCBI36]
Chr5:5p13.2 |
uncertain significance |
| GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 |
copy number gain |
See cases [RCV000137302] |
Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1 |
pathogenic |
| GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 |
copy number gain |
See cases [RCV000138780] |
Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3 |
pathogenic |
| NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002517686]|not provided [RCV000175380] |
Chr5:37007396 [GRCh38]
Chr5:37007498 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807098]|Inborn genetic diseases [RCV002354356]|not specified [RCV000153035] |
Chr5:37038687 [GRCh38]
Chr5:37038789 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.42G>A (p.Ala14=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002516085]|not specified [RCV000153570] |
Chr5:36953738 [GRCh38]
Chr5:36953840 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.5863-31TA[12] |
microsatellite |
not provided [RCV001539148]|not specified [RCV000153572] |
Chr5:37036347..37036348 [GRCh38]
Chr5:37036449..37036450 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) |
duplication |
Cornelia de Lange syndrome 1 [RCV000157041] |
Chr5:37020659..37020660 [GRCh38]
Chr5:37020761..37020762 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000157042] |
Chr5:36985327..36985328 [GRCh38]
Chr5:36985429..36985430 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1808del (p.Lys603fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000157043]|not provided [RCV003229814] |
Chr5:36984981 [GRCh38]
Chr5:36985083 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.65-3T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000157044] |
Chr5:36955469 [GRCh38]
Chr5:36955571 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000157045]|not provided [RCV000726375] |
Chr5:37008623 [GRCh38]
Chr5:37008725 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000157046] |
Chr5:36975821 [GRCh38]
Chr5:36975923 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000157047] |
Chr5:37063829..37063866 [GRCh38]
Chr5:37063931..37063968 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000157048]|not provided [RCV004700485] |
Chr5:37059117 [GRCh38]
Chr5:37059219 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.697A>G (p.Asn233Asp) |
single nucleotide variant |
not provided [RCV000153560] |
Chr5:36970962 [GRCh38]
Chr5:36971064 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807099]|not provided [RCV000723855] |
Chr5:36985168 [GRCh38]
Chr5:36985270 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.126T>C (p.Phe42=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807100]|not provided [RCV000723805]|not specified [RCV000153571] |
Chr5:36955533 [GRCh38]
Chr5:36955635 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6701T>G (p.Leu2234Ter) |
single nucleotide variant |
not provided [RCV000178016] |
Chr5:37048613 [GRCh38]
Chr5:37048715 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8166A>G (p.Pro2722=) |
single nucleotide variant |
not provided [RCV000153574] |
Chr5:37064643 [GRCh38]
Chr5:37064745 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157613]|not provided [RCV000153036] |
Chr5:37044698 [GRCh38]
Chr5:37044800 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.4520C>T (p.Ser1507Leu) |
single nucleotide variant |
not provided [RCV000176236] |
Chr5:37010185 [GRCh38]
Chr5:37010287 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1164T>C (p.Asn388=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005089983]|not specified [RCV000193559] |
Chr5:36976071 [GRCh38]
Chr5:36976173 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807114]|Inborn genetic diseases [RCV002399636]|NIPBL-related disorder [RCV003917665]|not provided [RCV000178587] |
Chr5:37060886 [GRCh38]
Chr5:37060988 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.458+7T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003105809]|not provided [RCV000179008] |
Chr5:36961590 [GRCh38]
Chr5:36961692 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.5249A>G (p.Tyr1750Cys) |
single nucleotide variant |
not provided [RCV000176774] |
Chr5:37020798 [GRCh38]
Chr5:37020900 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001153202]|not provided [RCV000724488]|not specified [RCV000180699] |
Chr5:36976299 [GRCh38]
Chr5:36976401 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002516706]|not provided [RCV000176432] |
Chr5:37016077 [GRCh38]
Chr5:37016179 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6558A>G (p.Glu2186=) |
single nucleotide variant |
not provided [RCV000177958] |
Chr5:37046168 [GRCh38]
Chr5:37046270 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6763T>A (p.Trp2255Arg) |
single nucleotide variant |
not provided [RCV000178014] |
Chr5:37048675 [GRCh38]
Chr5:37048777 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6595G>C (p.Ala2199Pro) |
single nucleotide variant |
not provided [RCV000178015] |
Chr5:37048507 [GRCh38]
Chr5:37048609 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000192755] |
Chr5:37064751..37064752 [GRCh38]
Chr5:37064853..37064854 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu) |
indel |
Cornelia de Lange syndrome 1 [RCV000193586] |
Chr5:37064773..37064777 [GRCh38]
Chr5:37064875..37064879 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.*84dup |
duplication |
De Lange syndrome [RCV000302616]|not specified [RCV000194508] |
Chr5:37064967..37064968 [GRCh38]
Chr5:37065069..37065070 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs) |
indel |
Cornelia de Lange syndrome 1 [RCV000194810] |
Chr5:37064819..37064825 [GRCh38]
Chr5:37064921..37064927 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer) |
duplication |
Cornelia de Lange syndrome 1 [RCV000192335] |
Chr5:37019376..37019377 [GRCh38]
Chr5:37019478..37019479 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter) |
duplication |
Cornelia de Lange syndrome 1 [RCV000192354] |
Chr5:36976052..36976053 [GRCh38]
Chr5:36976154..36976155 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4776+4A>G |
single nucleotide variant |
not specified [RCV000192404] |
Chr5:37016174 [GRCh38]
Chr5:37016276 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000192441] |
Chr5:37060996..37060997 [GRCh38]
Chr5:37061098..37061099 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000192461] |
Chr5:37010195..37010196 [GRCh38]
Chr5:37010297..37010298 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7263+4A>C |
single nucleotide variant |
not specified [RCV000192509] |
Chr5:37052570 [GRCh38]
Chr5:37052672 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.212_213dup (p.Val72fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000192596] |
Chr5:36955618..36955619 [GRCh38]
Chr5:36955720..36955721 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000192628] |
Chr5:37049147 [GRCh38]
Chr5:37049249 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.314dup (p.Asn105fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000192791] |
Chr5:36958185..36958186 [GRCh38]
Chr5:36958287..36958288 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000192908] |
Chr5:36985701 [GRCh38]
Chr5:36985803 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000193008] |
Chr5:37024589..37024590 [GRCh38]
Chr5:37024691..37024692 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000193077] |
Chr5:37049155..37049156 [GRCh38]
Chr5:37049257..37049258 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3856-7_3856-5del |
deletion |
Cornelia de Lange syndrome 1 [RCV000193100] |
Chr5:37006349..37006351 [GRCh38]
Chr5:37006451..37006453 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6263G>A (p.Cys2088Tyr) |
single nucleotide variant |
not specified [RCV000193154] |
Chr5:37044649 [GRCh38]
Chr5:37044751 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5863-10_5863-3dup |
duplication |
not specified [RCV000193226] |
Chr5:37036361..37036362 [GRCh38]
Chr5:37036463..37036464 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.458+1_458+2dup |
duplication |
Cornelia de Lange syndrome 1 [RCV000193348] |
Chr5:36961583..36961584 [GRCh38]
Chr5:36961685..36961686 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000193404] |
Chr5:37010160 [GRCh38]
Chr5:37010262 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter) |
duplication |
Cornelia de Lange syndrome 1 [RCV000193424] |
Chr5:36985573..36985574 [GRCh38]
Chr5:36985675..36985676 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1496-8A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000193488] |
Chr5:36984668 [GRCh38]
Chr5:36984770 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000193538] |
Chr5:37020492 [GRCh38]
Chr5:37020594 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000193602] |
Chr5:37017133..37017134 [GRCh38]
Chr5:37017235..37017236 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000193652] |
Chr5:37063837..37063838 [GRCh38]
Chr5:37063939..37063940 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13 |
indel |
Cornelia de Lange syndrome 1 [RCV000193765] |
Chr5:37057223..37057230 [GRCh38]
Chr5:37057325..37057332 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000193856] |
Chr5:37024687..37024688 [GRCh38]
Chr5:37024789..37024790 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4320+2dup |
duplication |
Cornelia de Lange syndrome 1 [RCV000193944] |
Chr5:37008089..37008090 [GRCh38]
Chr5:37008191..37008192 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3264del (p.Ser1089fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000194051] |
Chr5:36995764 [GRCh38]
Chr5:36995866 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6108+2T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000194053] |
Chr5:37038740 [GRCh38]
Chr5:37038842 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs) |
insertion |
Cornelia de Lange syndrome 1 [RCV000194119] |
Chr5:36958159..36958160 [GRCh38]
Chr5:36958261..36958262 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5863-12_5863-11insAT |
insertion |
not specified [RCV000194170] |
Chr5:37036367..37036368 [GRCh38]
Chr5:37036469..37036470 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs) |
insertion |
Cornelia de Lange syndrome 1 [RCV000194191] |
Chr5:37014701..37014702 [GRCh38]
Chr5:37014803..37014804 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000194236] |
Chr5:37060970..37060971 [GRCh38]
Chr5:37061072..37061073 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000194257] |
Chr5:37010193..37010194 [GRCh38]
Chr5:37010295..37010296 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000194372] |
Chr5:37048613..37048614 [GRCh38]
Chr5:37048715..37048716 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs) |
indel |
Cornelia de Lange syndrome 1 [RCV000194449] |
Chr5:36976355..36976356 [GRCh38]
Chr5:36976457..36976458 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2965dup (p.Ile989fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000194589] |
Chr5:36986139..36986140 [GRCh38]
Chr5:36986241..36986242 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2464del (p.Gln822fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000194656] |
Chr5:36985644 [GRCh38]
Chr5:36985746 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000194706] |
Chr5:37026256..37026257 [GRCh38]
Chr5:37026358..37026359 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1992dup (p.Glu665fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000194718] |
Chr5:36985171..36985172 [GRCh38]
Chr5:36985273..36985274 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs) |
insertion |
Cornelia de Lange syndrome 1 [RCV000194767] |
Chr5:37020494..37020495 [GRCh38]
Chr5:37020596..37020597 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000194873] |
Chr5:37019352..37019359 [GRCh38]
Chr5:37019454..37019461 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7913dup (p.Val2639fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000194911] |
Chr5:37063841..37063842 [GRCh38]
Chr5:37063943..37063944 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6249+2dup |
duplication |
Cornelia de Lange syndrome 1 [RCV000194935] |
Chr5:37044488..37044489 [GRCh38]
Chr5:37044590..37044591 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5863-12_5863-11insATAT |
insertion |
not specified [RCV000194999] |
Chr5:37036367..37036368 [GRCh38]
Chr5:37036469..37036470 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4422-12del |
deletion |
Cornelia de Lange syndrome 1 [RCV001807139]|not provided [RCV001711498]|not specified [RCV000195188] |
Chr5:37010068 [GRCh38]
Chr5:37010170 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 |
copy number gain |
See cases [RCV000239779] |
Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12 |
pathogenic |
| NM_133433.4(NIPBL):c.6156G>C (p.Glu2052Asp) |
single nucleotide variant |
not provided [RCV000255630] |
Chr5:37044394 [GRCh38]
Chr5:37044496 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:37000955-37014827)x4 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207097] |
Chr5:37000955..37014827 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6038G>A (p.Ser2013Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000544465] |
Chr5:37038668 [GRCh38]
Chr5:37038770 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000527287] |
Chr5:36976154 [GRCh38]
Chr5:36976256 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5051C>T (p.Thr1684Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003380520]|not provided [RCV000224399] |
Chr5:37020499 [GRCh38]
Chr5:37020601 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3425dup (p.Gly1143fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000677702] |
Chr5:37000491..37000492 [GRCh38]
Chr5:37000593..37000594 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4776+12G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000267661] |
Chr5:37016182 [GRCh38]
Chr5:37016284 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000284905]|Inborn genetic diseases [RCV002317850]|not provided [RCV003430910] |
Chr5:36955586 [GRCh38]
Chr5:36955688 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.-265A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000279096] |
Chr5:36876993 [GRCh38]
Chr5:36877095 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3574+20A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002519944]|not specified [RCV000253503] |
Chr5:37000908 [GRCh38]
Chr5:37001010 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.7861-2del |
deletion |
not provided [RCV000255729] |
Chr5:37063788 [GRCh38]
Chr5:37063890 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4253G>A (p.Gly1418Glu) |
single nucleotide variant |
not provided [RCV000521336] |
Chr5:37008021 [GRCh38]
Chr5:37008123 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3126T>C (p.Ser1042=) |
single nucleotide variant |
not specified [RCV000517948] |
Chr5:36995626 [GRCh38]
Chr5:36995728 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3502+17A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807201]|not specified [RCV000250163] |
Chr5:37000587 [GRCh38]
Chr5:37000689 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.5226-4G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497841]|not specified [RCV000243152] |
Chr5:37020771 [GRCh38]
Chr5:37020873 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5710-13C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000273182]|NIPBL-related disorder [RCV003912506] |
Chr5:37026216 [GRCh38]
Chr5:37026318 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.-312T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000332545]|not provided [RCV002274996] |
Chr5:36876946 [GRCh38]
Chr5:36877048 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000902828]|Inborn genetic diseases [RCV002314076] |
Chr5:37048557 [GRCh38]
Chr5:37048659 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4041A>G (p.Thr1347=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000314780] |
Chr5:37006542 [GRCh38]
Chr5:37006644 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000356643] |
Chr5:37008676 [GRCh38]
Chr5:37008778 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2926A>G (p.Met976Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000289116] |
Chr5:36986106 [GRCh38]
Chr5:36986208 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-243A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000320082] |
Chr5:36877015 [GRCh38]
Chr5:36877117 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.4699C>A (p.Gln1567Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000359993] |
Chr5:37016093 [GRCh38]
Chr5:37016195 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2856G>A (p.Ala952=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000382430] |
Chr5:36986036 [GRCh38]
Chr5:36986138 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.5709+4G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000383988]|Inborn genetic diseases [RCV002314075] |
Chr5:37024723 [GRCh38]
Chr5:37024825 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2501G>A (p.Arg834Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000323128] |
Chr5:36985681 [GRCh38]
Chr5:36985783 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*334G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000363068]|not provided [RCV003422338] |
Chr5:37065226 [GRCh38]
Chr5:37065328 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.*551G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000365794] |
Chr5:37065443 [GRCh38]
Chr5:37065545 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000295573] |
Chr5:37045501 [GRCh38]
Chr5:37045603 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.1208C>T (p.Thr403Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000367940] |
Chr5:36976115 [GRCh38]
Chr5:36976217 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.1721A>G (p.Asn574Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000369275] |
Chr5:36984901 [GRCh38]
Chr5:36985003 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3487C>T (p.Pro1163Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000349808] |
Chr5:37000555 [GRCh38]
Chr5:37000657 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497844]|De Lange syndrome [RCV000394159]|Inborn genetic diseases [RCV002520371] |
Chr5:36976283 [GRCh38]
Chr5:36976385 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.-307C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000373204] |
Chr5:36876951 [GRCh38]
Chr5:36877053 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.*460del |
deletion |
De Lange syndrome [RCV000269986]|not provided [RCV004695862] |
Chr5:37065341 [GRCh38]
Chr5:37065443 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2081A>G (p.Glu694Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003105849]|not provided [RCV000373481] |
Chr5:36985261 [GRCh38]
Chr5:36985363 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4787_4791del (p.Gln1595_Phe1596insTer) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001054633]|not provided [RCV000283562] |
Chr5:37017024..37017028 [GRCh38]
Chr5:37017126..37017130 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=) |
single nucleotide variant |
NIPBL-related disorder [RCV003939952]|not provided [RCV000376935] |
Chr5:37022327 [GRCh38]
Chr5:37022429 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.40dup (p.Ala14fs) |
duplication |
not provided [RCV000289950] |
Chr5:36953735..36953736 [GRCh38]
Chr5:36953837..36953838 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2945C>T (p.Pro982Leu) |
single nucleotide variant |
not provided [RCV000341041] |
Chr5:36986125 [GRCh38]
Chr5:36986227 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-416dup |
duplication |
De Lange syndrome [RCV000272068]|not provided [RCV003430909] |
Chr5:36876834..36876835 [GRCh38]
Chr5:36876936..36876937 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6156G>T (p.Glu2052Asp) |
single nucleotide variant |
not provided [RCV000309765] |
Chr5:37044394 [GRCh38]
Chr5:37044496 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6285T>G (p.Val2095=) |
single nucleotide variant |
not provided [RCV000381366] |
Chr5:37044671 [GRCh38]
Chr5:37044773 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6065A>G (p.Lys2022Arg) |
single nucleotide variant |
not provided [RCV000277282] |
Chr5:37038695 [GRCh38]
Chr5:37038797 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*742_*743del |
deletion |
De Lange syndrome [RCV000273355] |
Chr5:37065633..37065634 [GRCh38]
Chr5:37065735..37065736 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1942_1954delinsCTT (p.Thr648fs) |
indel |
not provided [RCV000331707] |
Chr5:36985122..36985134 [GRCh38]
Chr5:36985224..36985236 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3855+2T>C |
single nucleotide variant |
not provided [RCV000343728] |
Chr5:37003349 [GRCh38]
Chr5:37003451 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7175G>A (p.Cys2392Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000346239]|not provided [RCV000724956] |
Chr5:37052478 [GRCh38]
Chr5:37052580 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3938C>A (p.Thr1313Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603047]|not provided [RCV000318109] |
Chr5:37006439 [GRCh38]
Chr5:37006541 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7893T>C (p.Asp2631=) |
single nucleotide variant |
not provided [RCV000352400] |
Chr5:37063822 [GRCh38]
Chr5:37063924 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1221A>G (p.Pro407=) |
single nucleotide variant |
not provided [RCV000352940] |
Chr5:36976128 [GRCh38]
Chr5:36976230 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.862C>A (p.Pro288Thr) |
single nucleotide variant |
not specified [RCV000319461] |
Chr5:36972035 [GRCh38]
Chr5:36972137 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807211]|Inborn genetic diseases [RCV002450822]|NIPBL-related disorder [RCV003940035]|not provided [RCV000878689]|not specified [RCV000321066] |
Chr5:36985907 [GRCh38]
Chr5:36986009 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.4907G>T (p.Arg1636Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002521912]|not provided [RCV000391600] |
Chr5:37017149 [GRCh38]
Chr5:37017251 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.592del (p.His198fs) |
deletion |
not provided [RCV000359503] |
Chr5:36962256 [GRCh38]
Chr5:36962358 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6082C>T (p.Gln2028Ter) |
single nucleotide variant |
not provided [RCV000365709] |
Chr5:37038712 [GRCh38]
Chr5:37038814 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1456A>G (p.Ile486Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005031870]|not provided [RCV000289741] |
Chr5:36976363 [GRCh38]
Chr5:36976465 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1077A>G (p.Thr359=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005090349]|not provided [RCV000394552] |
Chr5:36975984 [GRCh38]
Chr5:36976086 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2171C>T (p.Thr724Ile) |
single nucleotide variant |
not provided [RCV000324942] |
Chr5:36985351 [GRCh38]
Chr5:36985453 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-338C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000278019] |
Chr5:36876920 [GRCh38]
Chr5:36877022 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3978T>C (p.Ala1326=) |
single nucleotide variant |
not provided [RCV000294647] |
Chr5:37006479 [GRCh38]
Chr5:37006581 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7418T>C (p.Val2473Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807209]|Inborn genetic diseases [RCV002379120]|not provided [RCV000330008] |
Chr5:37058898 [GRCh38]
Chr5:37059000 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.1017T>C (p.Ser339=) |
single nucleotide variant |
not provided [RCV000401973] |
Chr5:36975924 [GRCh38]
Chr5:36976026 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7150C>T (p.Gln2384Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000408616] |
Chr5:37052453 [GRCh38]
Chr5:37052555 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2439A>C (p.Ser813=) |
single nucleotide variant |
not provided [RCV000301370] |
Chr5:36985619 [GRCh38]
Chr5:36985721 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1521A>C (p.Gln507His) |
single nucleotide variant |
not provided [RCV000490227] |
Chr5:36984701 [GRCh38]
Chr5:36984803 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000531273] |
Chr5:37000561 [GRCh38]
Chr5:37000663 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3248del (p.Pro1083fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000555256] |
Chr5:36995747 [GRCh38]
Chr5:36995849 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:36780915-37073813)x3 |
copy number gain |
Chromosome 5p13 duplication syndrome [RCV003222550] |
Chr5:36780915..37073813 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.869-1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002283798] |
Chr5:36975775 [GRCh38]
Chr5:36975877 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5345G>C (p.Gly1782Ala) |
single nucleotide variant |
not provided [RCV003239114] |
Chr5:37022067 [GRCh38]
Chr5:37022169 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6576dup (p.Ile2193fs) |
duplication |
not provided [RCV001269683] |
Chr5:37046185..37046186 [GRCh38]
Chr5:37046287..37046288 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4291C>T (p.Gln1431Ter) |
single nucleotide variant |
not provided [RCV001269623] |
Chr5:37008059 [GRCh38]
Chr5:37008161 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5843T>A (p.Phe1948Tyr) |
single nucleotide variant |
not provided [RCV000488916] |
Chr5:37027393 [GRCh38]
Chr5:37027495 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-410C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000331810] |
Chr5:36876848 [GRCh38]
Chr5:36876950 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-424T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000366466] |
Chr5:36876834 [GRCh38]
Chr5:36876936 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*282_*285del |
deletion |
De Lange syndrome [RCV000306087]|not provided [RCV001594985] |
Chr5:37065172..37065175 [GRCh38]
Chr5:37065274..37065277 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.-379G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000367876] |
Chr5:36876879 [GRCh38]
Chr5:36876981 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8236G>A (p.Gly2746Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000405638] |
Chr5:37064713 [GRCh38]
Chr5:37064815 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-428G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000307141] |
Chr5:36876830 [GRCh38]
Chr5:36876932 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*545A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000308768] |
Chr5:37065437 [GRCh38]
Chr5:37065539 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7843G>C (p.Val2615Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000337698] |
Chr5:37061001 [GRCh38]
Chr5:37061103 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7362C>T (p.Asp2454=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000372544] |
Chr5:37057284 [GRCh38]
Chr5:37057386 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-153dup |
duplication |
De Lange syndrome [RCV000374694] |
Chr5:36877098..36877099 [GRCh38]
Chr5:36877200..36877201 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*142G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000341009] |
Chr5:37065034 [GRCh38]
Chr5:37065136 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*265_*266del |
deletion |
De Lange syndrome [RCV000394929] |
Chr5:37065156..37065157 [GRCh38]
Chr5:37065258..37065259 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5374G>C (p.Ala1792Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000531426] |
Chr5:37022096 [GRCh38]
Chr5:37022198 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5168G>A (p.Arg1723Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000326996] |
Chr5:37020616 [GRCh38]
Chr5:37020718 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-429del |
deletion |
De Lange syndrome [RCV000394993] |
Chr5:36876824 [GRCh38]
Chr5:36876926 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000722170]|Inborn genetic diseases [RCV000623080] |
Chr5:36976342 [GRCh38]
Chr5:36976444 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6143C>G (p.Ala2048Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV000623333] |
Chr5:37044381 [GRCh38]
Chr5:37044483 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603059]|not provided [RCV000598484] |
Chr5:36985399 [GRCh38]
Chr5:36985501 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002532384]|not provided [RCV000828951]|not specified [RCV000591666] |
Chr5:37020549 [GRCh38]
Chr5:37020651 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer) |
deletion |
Inborn genetic diseases [RCV002341517]|not provided [RCV000591807] |
Chr5:37016151..37016154 [GRCh38]
Chr5:37016253..37016256 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8384dup (p.Tyr2796fs) |
duplication |
not provided [RCV000627549] |
Chr5:37064860..37064861 [GRCh38]
Chr5:37064962..37064963 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4512dup (p.Pro1505fs) |
duplication |
not provided [RCV000599238] |
Chr5:37010176..37010177 [GRCh38]
Chr5:37010278..37010279 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6227TCA[2] (p.Ile2078del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001313712]|not provided [RCV000593639] |
Chr5:37044465..37044467 [GRCh38]
Chr5:37044567..37044569 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000765841]|not provided [RCV000593681] |
Chr5:37010094 [GRCh38]
Chr5:37010196 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7855del (p.Tyr2618_Leu2619insTer) |
deletion |
not provided [RCV000599580] |
Chr5:37061013 [GRCh38]
Chr5:37061115 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7330G>A (p.Glu2444Lys) |
single nucleotide variant |
not provided [RCV000591253] |
Chr5:37057252 [GRCh38]
Chr5:37057354 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4493T>C (p.Ile1498Thr) |
single nucleotide variant |
not provided [RCV000523798] |
Chr5:37010158 [GRCh38]
Chr5:37010260 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.6981C>T (p.Gly2327=) |
single nucleotide variant |
not provided [RCV000591410] |
Chr5:37051805 [GRCh38]
Chr5:37051907 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3410_3413del (p.Gly1137fs) |
microsatellite |
not provided [RCV000414589] |
Chr5:37000474..37000477 [GRCh38]
Chr5:37000576..37000579 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala) |
single nucleotide variant |
Brachydactyly [RCV000415074] |
Chr5:37044480 [GRCh38]
Chr5:37044582 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2218_2250del (p.Gly740_Lys750del) |
deletion |
not provided [RCV000595210]|not specified [RCV004782460] |
Chr5:36985377..36985409 [GRCh38]
Chr5:36985479..36985511 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3659C>T (p.Ala1220Val) |
single nucleotide variant |
not provided [RCV000731103] |
Chr5:37001073 [GRCh38]
Chr5:37001175 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3084dup (p.Lys1029Ter) |
duplication |
not provided [RCV000731247] |
Chr5:36986262..36986263 [GRCh38]
Chr5:36986364..36986365 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) |
deletion |
Cornelia de Lange syndrome 1 [RCV001196333]|Cryptorchidism [RCV000414869] |
Chr5:36984990..36984991 [GRCh38]
Chr5:36985092..36985093 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4573G>A (p.Val1525Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002535317]|not provided [RCV000733239] |
Chr5:37014695 [GRCh38]
Chr5:37014797 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6589+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000558355]|not provided [RCV003319378] |
Chr5:37046204 [GRCh38]
Chr5:37046306 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.927delinsACA (p.Asp309fs) |
indel |
not provided [RCV000732949] |
Chr5:36975834 [GRCh38]
Chr5:36975936 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6108+5G>A |
single nucleotide variant |
not provided [RCV000414501] |
Chr5:37038743 [GRCh38]
Chr5:37038845 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1302G>C (p.Val434=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497847]|not specified [RCV000441471] |
Chr5:36976209 [GRCh38]
Chr5:36976311 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3139G>T (p.Val1047Leu) |
single nucleotide variant |
not provided [RCV000427835] |
Chr5:36995639 [GRCh38]
Chr5:36995741 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000793633]|Inborn genetic diseases [RCV002318404]|not specified [RCV000421275] |
Chr5:36985948 [GRCh38]
Chr5:36986050 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4561-2A>G |
single nucleotide variant |
not provided [RCV000421944] |
Chr5:37014681 [GRCh38]
Chr5:37014783 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157615]|not provided [RCV003422401]|not specified [RCV000419567] |
Chr5:37045537 [GRCh38]
Chr5:37045639 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003114562]|not provided [RCV000430029] |
Chr5:37022288 [GRCh38]
Chr5:37022390 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6845A>G (p.Tyr2282Cys) |
single nucleotide variant |
not provided [RCV000434028] |
Chr5:37049192 [GRCh38]
Chr5:37049294 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1979A>G (p.Glu660Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005090710]|not provided [RCV004696188]|not specified [RCV000423143] |
Chr5:36985159 [GRCh38]
Chr5:36985261 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6764-4G>C |
single nucleotide variant |
not specified [RCV000433955] |
Chr5:37049107 [GRCh38]
Chr5:37049209 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5710-13_5710-12delinsAA |
indel |
not provided [RCV000482665] |
Chr5:37026216..37026217 [GRCh38]
Chr5:37026318..37026319 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.-80+5del |
deletion |
not provided [RCV003431045]|not specified [RCV000480485] |
Chr5:36877181 [GRCh38]
Chr5:36877283 [GRCh37]
Chr5:5p13.2 |
likely benign |
| GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 |
copy number gain |
See cases [RCV000512120] |
Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2315del (p.Ser772fs) |
deletion |
not provided [RCV000478771] |
Chr5:36985495 [GRCh38]
Chr5:36985597 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.775G>A (p.Gly259Arg) |
single nucleotide variant |
not provided [RCV000486290] |
Chr5:36971948 [GRCh38]
Chr5:36972050 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6070G>C (p.Ala2024Pro) |
single nucleotide variant |
not provided [RCV000486857] |
Chr5:37038700 [GRCh38]
Chr5:37038802 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6962C>T (p.Pro2321Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002525957]|not provided [RCV000480367] |
Chr5:37051786 [GRCh38]
Chr5:37051888 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000503300] |
Chr5:37002695 [GRCh38]
Chr5:37002797 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000503495]|not provided [RCV005222979] |
Chr5:36985641..36985644 [GRCh38]
Chr5:36985743..36985746 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000503525] |
Chr5:37044648..37044651 [GRCh38]
Chr5:37044750..37044753 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5295G>A (p.Pro1765=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807275]|Inborn genetic diseases [RCV002350121]|not provided [RCV000923834]|not specified [RCV000501333] |
Chr5:37020844 [GRCh38]
Chr5:37020946 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| GRCh37/hg19 5p13.2(chr5:37043815-37567893)x3 |
copy number gain |
See cases [RCV000510649] |
Chr5:37043815..37567893 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000501521] |
Chr5:36995637 [GRCh38]
Chr5:36995739 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3347A>G (p.Glu1116Gly) |
single nucleotide variant |
not specified [RCV000504017] |
Chr5:37000415 [GRCh38]
Chr5:37000517 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3768+34T>G |
single nucleotide variant |
not specified [RCV000501757] |
Chr5:37002799 [GRCh38]
Chr5:37002901 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001242106]|Inborn genetic diseases [RCV002524237]|not provided [RCV000733763]|not specified [RCV000499763] |
Chr5:36985783 [GRCh38]
Chr5:36985885 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6087A>G (p.Pro2029=) |
single nucleotide variant |
not specified [RCV000499689] |
Chr5:37038717 [GRCh38]
Chr5:37038819 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1273C>G (p.Gln425Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003133280]|not provided [RCV000497520] |
Chr5:36976180 [GRCh38]
Chr5:36976282 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000499947] |
Chr5:37045498..37045499 [GRCh38]
Chr5:37045600..37045601 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3855+4A>C |
single nucleotide variant |
not provided [RCV000497663] |
Chr5:37003351 [GRCh38]
Chr5:37003453 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000502417] |
Chr5:36986287 [GRCh38]
Chr5:36986389 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val) |
inversion |
Cornelia de Lange syndrome 1 [RCV000764604]|not specified [RCV000500637] |
Chr5:37058967..37058968 [GRCh38]
Chr5:37059069..37059070 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5979C>T (p.Asp1993=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001155913]|not specified [RCV000503115] |
Chr5:37038609 [GRCh38]
Chr5:37038711 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002524236]|not specified [RCV000503150] |
Chr5:36985285 [GRCh38]
Chr5:36985387 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.771+2T>A |
single nucleotide variant |
not provided [RCV000493500] |
Chr5:36971038 [GRCh38]
Chr5:36971140 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6243C>T (p.Gly2081=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002524012]|not provided [RCV000493935] |
Chr5:37044481 [GRCh38]
Chr5:37044583 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:36814048-37347486)x3 |
copy number gain |
See cases [RCV000511108] |
Chr5:36814048..37347486 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| GRCh37/hg19 5p13.2(chr5:36926004-37242249)x1 |
copy number loss |
See cases [RCV000511207] |
Chr5:36926004..37242249 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:36916860-36960224)x1 |
copy number loss |
See cases [RCV000511161] |
Chr5:36916860..36960224 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6635T>A (p.Val2212Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000515734] |
Chr5:37048547 [GRCh38]
Chr5:37048649 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.868G>A (p.Gly290Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000515746] |
Chr5:36972041 [GRCh38]
Chr5:36972143 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001088428]|Inborn genetic diseases [RCV002311894]|not provided [RCV000556124] |
Chr5:37008013 [GRCh38]
Chr5:37008115 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.6086_6087insT (p.Tyr2030fs) |
insertion |
Cornelia de Lange syndrome 1 [RCV000556866] |
Chr5:37038716..37038717 [GRCh38]
Chr5:37038818..37038819 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.10:g.(?_37038582)_(37038758_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV000557666] |
Chr5:37038582..37038758 [GRCh38]
Chr5:37038684..37038860 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8274dup (p.Leu2759fs) |
duplication |
not provided [RCV000585059] |
Chr5:37064748..37064749 [GRCh38]
Chr5:37064850..37064851 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.5863-18A>G |
single nucleotide variant |
not provided [RCV000597943] |
Chr5:37036361 [GRCh38]
Chr5:37036463 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4686del (p.Phe1562fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000559923] |
Chr5:37016078 [GRCh38]
Chr5:37016180 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7263+3A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000534265] |
Chr5:37052569 [GRCh38]
Chr5:37052671 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1210C>T (p.Pro404Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003105936]|Inborn genetic diseases [RCV002524991]|NIPBL-related disorder [RCV003900066]|not provided [RCV000514588] |
Chr5:36976117 [GRCh38]
Chr5:36976219 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.5509C>T (p.Arg1837Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001380292]|not provided [RCV000627349] |
Chr5:37022325 [GRCh38]
Chr5:37022427 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1145del (p.Asn382fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000533708] |
Chr5:36976049 [GRCh38]
Chr5:36976151 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5863-16A>G |
single nucleotide variant |
not specified [RCV000602000] |
Chr5:37036363 [GRCh38]
Chr5:37036465 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000653703] |
Chr5:37038663 [GRCh38]
Chr5:37038765 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7702del (p.Ser2568fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000653704] |
Chr5:37060860 [GRCh38]
Chr5:37060962 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6796G>T (p.Glu2266Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000653705] |
Chr5:37049143 [GRCh38]
Chr5:37049245 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1956dup (p.Gln653fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV000653706] |
Chr5:36985133..36985134 [GRCh38]
Chr5:36985235..36985236 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000653707]|Inborn genetic diseases [RCV003163008] |
Chr5:36984763 [GRCh38]
Chr5:36984865 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3304+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000653708]|Neurodevelopmental delay [RCV002274082] |
Chr5:36995805 [GRCh38]
Chr5:36995907 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.64+6T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000653709] |
Chr5:36953766 [GRCh38]
Chr5:36953868 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.10:g.(?_37044327)_(37049321_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV000653710] |
Chr5:37044327..37049321 [GRCh38]
Chr5:37044429..37049423 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.169del (p.Arg57fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000535205] |
Chr5:36955576 [GRCh38]
Chr5:36955678 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.891A>C (p.Leu297=) |
single nucleotide variant |
not specified [RCV000609145] |
Chr5:36975798 [GRCh38]
Chr5:36975900 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.65-17G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002528720]|not specified [RCV000599759] |
Chr5:36955455 [GRCh38]
Chr5:36955557 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36916860-36960223)x1 |
copy number loss |
See cases [RCV000512517] |
Chr5:36916860..36960223 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5427+3A>G |
single nucleotide variant |
not provided [RCV000656297] |
Chr5:37022152 [GRCh38]
Chr5:37022254 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2(chr5:36881528-37300606)x3 |
copy number gain |
See cases [RCV000512460] |
Chr5:36881528..37300606 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) |
deletion |
Tetralogy of Fallot [RCV000626991] |
Chr5:37058938 [GRCh38]
Chr5:37059040 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2261G>T (p.Arg754Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV000624855]|not provided [RCV002473077] |
Chr5:36985441 [GRCh38]
Chr5:36985543 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1832G>A (p.Ser611Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003486165] |
Chr5:36985012 [GRCh38]
Chr5:36985114 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5262C>A (p.Cys1754Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001209041]|not provided [RCV000658458] |
Chr5:37020811 [GRCh38]
Chr5:37020913 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000946016]|Inborn genetic diseases [RCV002316049]|not provided [RCV003432750] |
Chr5:37001044 [GRCh38]
Chr5:37001146 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497877]|Inborn genetic diseases [RCV002314407]|NIPBL-related disorder [RCV003918161] |
Chr5:36985071 [GRCh38]
Chr5:36985173 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.459-2A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000680257] |
Chr5:36962121 [GRCh38]
Chr5:36962223 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6527T>C (p.Leu2176Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000680256] |
Chr5:37046137 [GRCh38]
Chr5:37046239 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4829T>C (p.Leu1610Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000680255] |
Chr5:37017071 [GRCh38]
Chr5:37017173 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4305T>C (p.Ile1435=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317423] |
Chr5:37008073 [GRCh38]
Chr5:37008175 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5567G>T (p.Arg1856Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000675187] |
Chr5:37022383 [GRCh38]
Chr5:37022485 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 |
copy number gain |
not provided [RCV000682542] |
Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:37025046-37685753)x4 |
copy number gain |
not provided [RCV000682545] |
Chr5:37025046..37685753 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7825G>T (p.Glu2609Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001808042] |
Chr5:37060983 [GRCh38]
Chr5:37061085 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6998del (p.Ala2333fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000688069] |
Chr5:37051822 [GRCh38]
Chr5:37051924 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7867C>G (p.Leu2623Val) |
single nucleotide variant |
not provided [RCV000712416] |
Chr5:37063796 [GRCh38]
Chr5:37063898 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001082372]|History of neurodevelopmental disorder [RCV000718998]|not provided [RCV000712417] |
Chr5:37064814 [GRCh38]
Chr5:37064916 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.3988G>T (p.Glu1330Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000704114] |
Chr5:37006489 [GRCh38]
Chr5:37006591 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3855+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000704470] |
Chr5:37003348 [GRCh38]
Chr5:37003450 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.4773G>C (p.Leu1591=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312306] |
Chr5:37016167 [GRCh38]
Chr5:37016269 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.65-5A>C |
single nucleotide variant |
Inborn genetic diseases [RCV002312428] |
Chr5:36955467 [GRCh38]
Chr5:36955569 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3467T>C (p.Met1156Thr) |
single nucleotide variant |
not provided [RCV000712414] |
Chr5:37000535 [GRCh38]
Chr5:37000637 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7410+4A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000684902]|not provided [RCV002289957] |
Chr5:37057336 [GRCh38]
Chr5:37057438 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003106033]|Inborn genetic diseases [RCV002314548] |
Chr5:37048536 [GRCh38]
Chr5:37048638 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.5011-1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000707689] |
Chr5:37020458 [GRCh38]
Chr5:37020560 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NC_000005.10:g.(?_36877164)_(37064912_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV000707972] |
Chr5:36877164..37064912 [GRCh38]
Chr5:36877266..37065014 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1451C>G (p.Ser484Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000694012] |
Chr5:36976358 [GRCh38]
Chr5:36976460 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001487600] |
Chr5:36986273 [GRCh38]
Chr5:36986375 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000925712]|Inborn genetic diseases [RCV002313624] |
Chr5:37064562 [GRCh38]
Chr5:37064664 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.961A>C (p.Arg321=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497879]|Inborn genetic diseases [RCV002313584] |
Chr5:36975868 [GRCh38]
Chr5:36975970 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.804A>G (p.Ala268=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001807333]|Inborn genetic diseases [RCV002318742]|not provided [RCV004711296] |
Chr5:36971977 [GRCh38]
Chr5:36972079 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.2349A>G (p.Lys783=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603070]|Inborn genetic diseases [RCV002315378]|NIPBL-related disorder [RCV003983178]|not provided [RCV001531416] |
Chr5:36985529 [GRCh38]
Chr5:36985631 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.2375G>T (p.Arg792Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002534566]|Inborn genetic diseases [RCV002315328] |
Chr5:36985555 [GRCh38]
Chr5:36985657 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2511G>C (p.Gln837His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003133578]|Inborn genetic diseases [RCV002315491]|NIPBL-related disorder [RCV004740428] |
Chr5:36985691 [GRCh38]
Chr5:36985793 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.435C>T (p.Thr145=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317961] |
Chr5:36961560 [GRCh38]
Chr5:36961662 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.310C>G (p.Pro104Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001868356]|Inborn genetic diseases [RCV002318083] |
Chr5:36958183 [GRCh38]
Chr5:36958285 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002534964]|Inborn genetic diseases [RCV002317421] |
Chr5:37059070 [GRCh38]
Chr5:37059172 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7245C>T (p.Asn2415=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317500] |
Chr5:37052548 [GRCh38]
Chr5:37052650 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603071]|Inborn genetic diseases [RCV002318765] |
Chr5:37064891 [GRCh38]
Chr5:37064993 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7097A>G (p.Gln2366Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002318775]|NIPBL-related disorder [RCV003392556] |
Chr5:37052400 [GRCh38]
Chr5:37052502 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6069T>C (p.His2023=) |
single nucleotide variant |
Inborn genetic diseases [RCV002318693]|not provided [RCV000914595] |
Chr5:37038699 [GRCh38]
Chr5:37038801 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002534938]|Inborn genetic diseases [RCV002318802] |
Chr5:36995704 [GRCh38]
Chr5:36995806 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.915A>G (p.Ser305=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317486] |
Chr5:36975822 [GRCh38]
Chr5:36975924 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603073]|Inborn genetic diseases [RCV002317479] |
Chr5:36985300 [GRCh38]
Chr5:36985402 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6498+4_6498+9del |
microsatellite |
Cornelia de Lange syndrome 1 [RCV005046980]|not provided [RCV000722274] |
Chr5:37045595..37045600 [GRCh38]
Chr5:37045697..37045702 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.507G>T (p.Gln169His) |
single nucleotide variant |
not provided [RCV001573965] |
Chr5:36962171 [GRCh38]
Chr5:36962273 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 |
copy number gain |
not provided [RCV000744593] |
Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV000758007] |
Chr5:37006369..37006371 [GRCh38]
Chr5:37006471..37006473 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5575-26T>G |
single nucleotide variant |
not provided [RCV001541153] |
Chr5:37024559 [GRCh38]
Chr5:37024661 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:36793233-36896707)x3 |
copy number gain |
not provided [RCV000744636] |
Chr5:36793233..36896707 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36808631-37158123)x3 |
copy number gain |
not provided [RCV000744637] |
Chr5:36808631..37158123 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36816661-36896707)x3 |
copy number gain |
not provided [RCV000744638] |
Chr5:36816661..36896707 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36879422-36893877)x3 |
copy number gain |
not provided [RCV000744639] |
Chr5:36879422..36893877 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36879422-36896707)x3 |
copy number gain |
not provided [RCV000744640] |
Chr5:36879422..36896707 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36879422-37171884)x3 |
copy number gain |
not provided [RCV000744641] |
Chr5:36879422..37171884 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36902936-37154269)x3 |
copy number gain |
not provided [RCV000744642] |
Chr5:36902936..37154269 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36902936-37158123)x3 |
copy number gain |
not provided [RCV000744643] |
Chr5:36902936..37158123 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36902936-37159620)x3 |
copy number gain |
not provided [RCV000744644] |
Chr5:36902936..37159620 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36902936-37159877)x3 |
copy number gain |
not provided [RCV000744645] |
Chr5:36902936..37159877 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36902936-37171884)x3 |
copy number gain |
not provided [RCV000744646] |
Chr5:36902936..37171884 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36911616-37154269)x3 |
copy number gain |
not provided [RCV000744647] |
Chr5:36911616..37154269 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36911616-37159877)x3 |
copy number gain |
not provided [RCV000744648] |
Chr5:36911616..37159877 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36911616-37171884)x3 |
copy number gain |
not provided [RCV000744649] |
Chr5:36911616..37171884 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36913472-37364693)x3 |
copy number gain |
not provided [RCV000744650] |
Chr5:36913472..37364693 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:36923463-37058656)x3 |
copy number gain |
not provided [RCV000744651] |
Chr5:36923463..37058656 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:37023898-37313998)x3 |
copy number gain |
not provided [RCV000744652] |
Chr5:37023898..37313998 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3914C>G (p.Thr1305Arg) |
single nucleotide variant |
not provided [RCV001531418] |
Chr5:37006415 [GRCh38]
Chr5:37006517 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.948A>G (p.Leu316=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497899]|Inborn genetic diseases [RCV002372543] |
Chr5:36975855 [GRCh38]
Chr5:36975957 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7263+198G>A |
single nucleotide variant |
not provided [RCV001725009] |
Chr5:37052764 [GRCh38]
Chr5:37052866 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.358+265A>G |
single nucleotide variant |
not provided [RCV001708897] |
Chr5:36958496 [GRCh38]
Chr5:36958598 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3122-148G>A |
single nucleotide variant |
not provided [RCV001680100] |
Chr5:36995474 [GRCh38]
Chr5:36995576 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1808dup (p.Ser604fs) |
duplication |
NIPBL-related disorder [RCV003399411]|not provided [RCV001596858] |
Chr5:36984980..36984981 [GRCh38]
Chr5:36985082..36985083 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3305-304C>T |
single nucleotide variant |
not provided [RCV001681339] |
Chr5:37000069 [GRCh38]
Chr5:37000171 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1144A>G (p.Asn382Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005094848]|not provided [RCV001597478] |
Chr5:36976051 [GRCh38]
Chr5:36976153 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2291del (p.Asn764fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000853369] |
Chr5:36985470 [GRCh38]
Chr5:36985572 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.868+66T>G |
single nucleotide variant |
not provided [RCV001547013] |
Chr5:36972107 [GRCh38]
Chr5:36972209 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.64+2_64+134del |
deletion |
Cornelia de Lange syndrome 1 [RCV001043668] |
Chr5:36953761..36953893 [GRCh38]
Chr5:36953863..36953995 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3769-240del |
deletion |
not provided [RCV001544938] |
Chr5:37003011 [GRCh38]
Chr5:37003113 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7063-184C>T |
single nucleotide variant |
not provided [RCV001545061] |
Chr5:37052182 [GRCh38]
Chr5:37052284 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000790517]|Inborn genetic diseases [RCV002442611] |
Chr5:36986248 [GRCh38]
Chr5:36986350 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.700_705del (p.His234_His235del) |
deletion |
not provided [RCV001551461] |
Chr5:36970963..36970968 [GRCh38]
Chr5:36971065..36971070 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3665-126T>C |
single nucleotide variant |
not provided [RCV001611478] |
Chr5:37002536 [GRCh38]
Chr5:37002638 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4746ACT[3] (p.Leu1585dup) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001044837] |
Chr5:37016139..37016140 [GRCh38]
Chr5:37016241..37016242 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7686-106T>G |
single nucleotide variant |
not provided [RCV001546752] |
Chr5:37060738 [GRCh38]
Chr5:37060840 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7861-104T>C |
single nucleotide variant |
not provided [RCV001577756] |
Chr5:37063686 [GRCh38]
Chr5:37063788 [GRCh37]
Chr5:5p13.2 |
likely benign |
| Single allele |
duplication |
Global developmental delay [RCV000754927] |
Chr5:36521666..37072247 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2423G>A (p.Arg808Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005047173]|not provided [RCV000992442] |
Chr5:36985603 [GRCh38]
Chr5:36985705 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.226del (p.His76fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000987509] |
Chr5:36955633 [GRCh38]
Chr5:36955735 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3305-1G>A |
single nucleotide variant |
not provided [RCV001665097] |
Chr5:37000372 [GRCh38]
Chr5:37000474 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.231-339_231-338insA |
insertion |
not provided [RCV001549655] |
Chr5:36957765..36957766 [GRCh38]
Chr5:36957867..36957868 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4422-23C>T |
single nucleotide variant |
not provided [RCV001678683] |
Chr5:37010064 [GRCh38]
Chr5:37010166 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.771+244dup |
duplication |
not provided [RCV001666027] |
Chr5:36971267..36971268 [GRCh38]
Chr5:36971369..36971370 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.8148A>G (p.Pro2716=) |
single nucleotide variant |
not provided [RCV000949911] |
Chr5:37064625 [GRCh38]
Chr5:37064727 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3708T>A (p.His1236Gln) |
single nucleotide variant |
not provided [RCV000928449] |
Chr5:37002705 [GRCh38]
Chr5:37002807 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001438083] |
Chr5:37044409 [GRCh38]
Chr5:37044511 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2448T>C (p.Arg816=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000951185] |
Chr5:36985628 [GRCh38]
Chr5:36985730 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.7449A>G (p.Ser2483=) |
single nucleotide variant |
not provided [RCV000925283] |
Chr5:37058929 [GRCh38]
Chr5:37059031 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.462G>A (p.Arg154=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000878133] |
Chr5:36962126 [GRCh38]
Chr5:36962228 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6955-8dup |
duplication |
not provided [RCV000923763] |
Chr5:37051770..37051771 [GRCh38]
Chr5:37051872..37051873 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7593T>C (p.Ala2531=) |
single nucleotide variant |
not provided [RCV003312619] |
Chr5:37059073 [GRCh38]
Chr5:37059175 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.188C>A (p.Ser63Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001089569] |
Chr5:36955595 [GRCh38]
Chr5:36955697 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32 |
uncertain significance |
| NM_133433.4(NIPBL):c.3439C>T (p.Arg1147Ter) |
single nucleotide variant |
De Lange syndrome [RCV000770972] |
Chr5:37000507 [GRCh38]
Chr5:37000609 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.585C>T (p.Tyr195=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497909] |
Chr5:36962249 [GRCh38]
Chr5:36962351 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2555A>G (p.Asn852Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001426951] |
Chr5:36985735 [GRCh38]
Chr5:36985837 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2352A>G (p.Gln784=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000981749]|not provided [RCV003432985] |
Chr5:36985532 [GRCh38]
Chr5:36985634 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5226-9T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001498845] |
Chr5:37020766 [GRCh38]
Chr5:37020868 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001520848] |
Chr5:37063863 [GRCh38]
Chr5:37063965 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603084] |
Chr5:37064868 [GRCh38]
Chr5:37064970 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6343+10A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002544538] |
Chr5:37044739 [GRCh38]
Chr5:37044841 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2910T>C (p.Thr970=) |
single nucleotide variant |
NIPBL-related disorder [RCV003895486]|not provided [RCV000899352] |
Chr5:36986090 [GRCh38]
Chr5:36986192 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2802C>T (p.His934=) |
single nucleotide variant |
not provided [RCV000918863] |
Chr5:36985982 [GRCh38]
Chr5:36986084 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002539188] |
Chr5:37045489 [GRCh38]
Chr5:37045591 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.834A>G (p.Val278=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000972871]|not provided [RCV001531415] |
Chr5:36972007 [GRCh38]
Chr5:36972109 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5863-19_5863-2del |
deletion |
Cornelia de Lange syndrome 1 [RCV000872632] |
Chr5:37036352..37036369 [GRCh38]
Chr5:37036454..37036471 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1905A>G (p.Ser635=) |
single nucleotide variant |
not provided [RCV000971747] |
Chr5:36985085 [GRCh38]
Chr5:36985187 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603080]|NIPBL-related disorder [RCV003970738] |
Chr5:37060965 [GRCh38]
Chr5:37061067 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6919T>C (p.Leu2307=) |
single nucleotide variant |
not provided [RCV000916877] |
Chr5:37049266 [GRCh38]
Chr5:37049368 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1496-9A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497910] |
Chr5:36984667 [GRCh38]
Chr5:36984769 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1660C>T (p.Gln554Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001030046]|not provided [RCV001008701] |
Chr5:36984840 [GRCh38]
Chr5:36984942 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.7936_7961del (p.Arg2646fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV002285123] |
Chr5:37063861..37063886 [GRCh38]
Chr5:37063963..37063988 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5272C>T (p.Arg1758Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003314372] |
Chr5:37020821 [GRCh38]
Chr5:37020923 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001483449] |
Chr5:37052521 [GRCh38]
Chr5:37052623 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3455C>G (p.Ser1152Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000823067] |
Chr5:37000523 [GRCh38]
Chr5:37000625 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.358+3G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000806903] |
Chr5:36958234 [GRCh38]
Chr5:36958336 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1629T>C (p.Ile543=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005092720] |
Chr5:36984809 [GRCh38]
Chr5:36984911 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157616] |
Chr5:37051871 [GRCh38]
Chr5:37051973 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3895del (p.Ile1300fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000806817] |
Chr5:37006395 [GRCh38]
Chr5:37006497 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6945T>C (p.His2315=) |
single nucleotide variant |
not provided [RCV000976747] |
Chr5:37049292 [GRCh38]
Chr5:37049394 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000801783] |
Chr5:37045553 [GRCh38]
Chr5:37045655 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000801784] |
Chr5:37044420 [GRCh38]
Chr5:37044522 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497914]|not provided [RCV000992443] |
Chr5:37006362 [GRCh38]
Chr5:37006464 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000785026] |
Chr5:37049116 [GRCh38]
Chr5:37049218 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5575-193T>C |
single nucleotide variant |
not provided [RCV000826448] |
Chr5:37024392 [GRCh38]
Chr5:37024494 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3855+52A>G |
single nucleotide variant |
not provided [RCV000833227] |
Chr5:37003399 [GRCh38]
Chr5:37003501 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4239+53T>C |
single nucleotide variant |
not provided [RCV000833228] |
Chr5:37007527 [GRCh38]
Chr5:37007629 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4921-59G>A |
single nucleotide variant |
not provided [RCV000833229] |
Chr5:37019252 [GRCh38]
Chr5:37019354 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4550C>G (p.Ser1517Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000820319] |
Chr5:37010215 [GRCh38]
Chr5:37010317 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.230+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000796217] |
Chr5:36955642 [GRCh38]
Chr5:36955744 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.5809-203C>A |
single nucleotide variant |
not provided [RCV000826449] |
Chr5:37027156 [GRCh38]
Chr5:37027258 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.2120del (p.Gly707fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000820519] |
Chr5:36985298 [GRCh38]
Chr5:36985400 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1677G>A (p.Gln559=) |
single nucleotide variant |
not provided [RCV000998372] |
Chr5:36984857 [GRCh38]
Chr5:36984959 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000788108] |
Chr5:37006424 [GRCh38]
Chr5:37006526 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6674C>T (p.Ser2225Phe) |
single nucleotide variant |
not provided [RCV000992444] |
Chr5:37048586 [GRCh38]
Chr5:37048688 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3253del (p.Tyr1085fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000802550] |
Chr5:36995753 [GRCh38]
Chr5:36995855 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7860+141A>G |
single nucleotide variant |
not provided [RCV000826450] |
Chr5:37061159 [GRCh38]
Chr5:37061261 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.6498+142A>G |
single nucleotide variant |
not provided [RCV000833230] |
Chr5:37045739 [GRCh38]
Chr5:37045841 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1320del (p.Asn440fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV000825001] |
Chr5:36976227 [GRCh38]
Chr5:36976329 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5972-186_5972-185insATGT |
insertion |
not provided [RCV000833293] |
Chr5:37038415..37038416 [GRCh38]
Chr5:37038517..37038518 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000798739]|NIPBL-related disorder [RCV003411756] |
Chr5:37048609 [GRCh38]
Chr5:37048711 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.111A>G (p.Thr37=) |
single nucleotide variant |
not provided [RCV000978436] |
Chr5:36955518 [GRCh38]
Chr5:36955620 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4321-35T>C |
single nucleotide variant |
not provided [RCV000835054] |
Chr5:37008588 [GRCh38]
Chr5:37008690 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4561-10T>C |
single nucleotide variant |
NIPBL-related disorder [RCV003955555]|not provided [RCV000842549] |
Chr5:37014673 [GRCh38]
Chr5:37014775 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000987510] |
Chr5:37008680 [GRCh38]
Chr5:37008782 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000987512] |
Chr5:37044661 [GRCh38]
Chr5:37044763 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7411-15G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001152138] |
Chr5:37058876 [GRCh38]
Chr5:37058978 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.1050_1051del (p.Pro351fs) |
microsatellite |
not provided [RCV001008554] |
Chr5:36975955..36975956 [GRCh38]
Chr5:36976057..36976058 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7465G>A (p.Glu2489Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001152139] |
Chr5:37058945 [GRCh38]
Chr5:37059047 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001169942] |
Chr5:36976342 [GRCh38]
Chr5:36976444 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| GRCh37/hg19 5p13.2(chr5:36880678-37475775)x3 |
copy number gain |
not provided [RCV000847460] |
Chr5:36880678..37475775 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2(chr5:37043936-37374124)x3 |
copy number gain |
not provided [RCV000849117] |
Chr5:37043936..37374124 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4560+1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002001740] |
Chr5:37010226 [GRCh38]
Chr5:37010328 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2701A>C (p.Asn901His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001216404]|Inborn genetic diseases [RCV004960559] |
Chr5:36985881 [GRCh38]
Chr5:36985983 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 |
copy number gain |
not provided [RCV000848003] |
Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:37039855-37448386)x3 |
copy number gain |
not provided [RCV000848948] |
Chr5:37039855..37448386 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7697A>G (p.Lys2566Arg) |
single nucleotide variant |
De Lange syndrome [RCV000991289] |
Chr5:37060855 [GRCh38]
Chr5:37060957 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3968T>A (p.Met1323Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001213609] |
Chr5:37006469 [GRCh38]
Chr5:37006571 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000987511] |
Chr5:37020643 [GRCh38]
Chr5:37020745 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3362A>T (p.Asp1121Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001230362] |
Chr5:37000430 [GRCh38]
Chr5:37000532 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2126_2128delinsCTCTCAA (p.Ser709fs) |
indel |
Cornelia de Lange syndrome 1 [RCV001197327] |
Chr5:36985306..36985308 [GRCh38]
Chr5:36985408..36985410 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3668A>G (p.Asp1223Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001196287] |
Chr5:37002665 [GRCh38]
Chr5:37002767 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.161T>A (p.Leu54Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001195989] |
Chr5:36955568 [GRCh38]
Chr5:36955670 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5018G>A (p.Arg1673His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603086]|not provided [RCV000998373] |
Chr5:37020466 [GRCh38]
Chr5:37020568 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2(chr5:37026725-37685753)x4 |
copy number gain |
not provided [RCV000846583] |
Chr5:37026725..37685753 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2(chr5:36879018-37476568)x3 |
copy number gain |
not provided [RCV000846697] |
Chr5:36879018..37476568 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.967C>G (p.Gln323Glu) |
single nucleotide variant |
not provided [RCV003313523] |
Chr5:36975874 [GRCh38]
Chr5:36975976 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*32A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001153423] |
Chr5:37064924 [GRCh38]
Chr5:37065026 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*354T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001153425] |
Chr5:37065246 [GRCh38]
Chr5:37065348 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1849G>C (p.Glu617Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001198251] |
Chr5:36985029 [GRCh38]
Chr5:36985131 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.308_311dup (p.Asn105fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001227884] |
Chr5:36958180..36958181 [GRCh38]
Chr5:36958282..36958283 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4856G>T (p.Arg1619Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001047222] |
Chr5:37017098 [GRCh38]
Chr5:37017200 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1000_1009del (p.Asp334fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001235669] |
Chr5:36975904..36975913 [GRCh38]
Chr5:36976006..36976015 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1234C>T (p.Arg412Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001242105] |
Chr5:36976141 [GRCh38]
Chr5:36976243 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.328A>T (p.Lys110Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003128096] |
Chr5:36958201 [GRCh38]
Chr5:36958303 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3203G>A (p.Arg1068His) |
single nucleotide variant |
Inborn genetic diseases [RCV003291562] |
Chr5:36995703 [GRCh38]
Chr5:36995805 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3575-9C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003106496] |
Chr5:37000980 [GRCh38]
Chr5:37001082 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7346T>C (p.Ile2449Thr) |
single nucleotide variant |
not provided [RCV004777069] |
Chr5:37057268 [GRCh38]
Chr5:37057370 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1961A>G (p.Asn654Ser) |
single nucleotide variant |
not provided [RCV004777078] |
Chr5:36985141 [GRCh38]
Chr5:36985243 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005036670]|not provided [RCV003127067] |
Chr5:37052511 [GRCh38]
Chr5:37052613 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6440T>C (p.Val2147Ala) |
single nucleotide variant |
not provided [RCV003229954] |
Chr5:37045539 [GRCh38]
Chr5:37045641 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7068A>G (p.Lys2356=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003128172] |
Chr5:37052371 [GRCh38]
Chr5:37052473 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.4421+198G>A |
single nucleotide variant |
not provided [RCV001582125] |
Chr5:37008921 [GRCh38]
Chr5:37009023 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497929]|Inborn genetic diseases [RCV004039561]|not provided [RCV001665479] |
Chr5:37017148 [GRCh38]
Chr5:37017250 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.868+201C>T |
single nucleotide variant |
not provided [RCV001582259] |
Chr5:36972242 [GRCh38]
Chr5:36972344 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5972-232C>T |
single nucleotide variant |
not provided [RCV001576747] |
Chr5:37038370 [GRCh38]
Chr5:37038472 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.-467C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001559131] |
Chr5:36876791 [GRCh38]
Chr5:36876893 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.1495+272G>A |
single nucleotide variant |
not provided [RCV001577173] |
Chr5:36976674 [GRCh38]
Chr5:36976776 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NC_000005.9:g.(?_33944753)_(39364566_?)dup |
duplication |
not provided [RCV003107632] |
Chr5:33944753..39364566 [GRCh37]
Chr5:5p13.2-13.1 |
uncertain significance |
| NM_133433.4(NIPBL):c.4284T>C (p.Ser1428=) |
single nucleotide variant |
not provided [RCV001567051] |
Chr5:37008052 [GRCh38]
Chr5:37008154 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6764-164AC[11] |
microsatellite |
not provided [RCV001570939] |
Chr5:37048947..37048948 [GRCh38]
Chr5:37049049..37049050 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6344-318G>T |
single nucleotide variant |
not provided [RCV001570996] |
Chr5:37045125 [GRCh38]
Chr5:37045227 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3769-240dup |
duplication |
not provided [RCV001554932] |
Chr5:37003010..37003011 [GRCh38]
Chr5:37003112..37003113 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3666TGA[3] (p.Asp1225del) |
microsatellite |
not provided [RCV001554986] |
Chr5:37002663..37002665 [GRCh38]
Chr5:37002765..37002767 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3503-7G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005094782]|not provided [RCV001560322] |
Chr5:37000810 [GRCh38]
Chr5:37000912 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.4560+77A>G |
single nucleotide variant |
not provided [RCV001659491] |
Chr5:37010302 [GRCh38]
Chr5:37010404 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4776+250A>G |
single nucleotide variant |
not provided [RCV001686865] |
Chr5:37016420 [GRCh38]
Chr5:37016522 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001542442] |
Chr5:36985426 [GRCh38]
Chr5:36985528 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3122-281T>C |
single nucleotide variant |
not provided [RCV001576143] |
Chr5:36995341 [GRCh38]
Chr5:36995443 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3665-229A>G |
single nucleotide variant |
not provided [RCV001555040] |
Chr5:37002433 [GRCh38]
Chr5:37002535 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.771+262G>A |
single nucleotide variant |
not provided [RCV001561119] |
Chr5:36971298 [GRCh38]
Chr5:36971400 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5972-260A>T |
single nucleotide variant |
not provided [RCV001660801] |
Chr5:37038342 [GRCh38]
Chr5:37038444 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.6108+120A>G |
single nucleotide variant |
not provided [RCV001569049] |
Chr5:37038858 [GRCh38]
Chr5:37038960 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3769-239C>T |
single nucleotide variant |
not provided [RCV001550663] |
Chr5:37003022 [GRCh38]
Chr5:37003124 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7685+117A>C |
single nucleotide variant |
not provided [RCV001589708] |
Chr5:37059282 [GRCh38]
Chr5:37059384 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7263+153A>T |
single nucleotide variant |
not provided [RCV001717742] |
Chr5:37052719 [GRCh38]
Chr5:37052821 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.231-149C>T |
single nucleotide variant |
not provided [RCV001649369] |
Chr5:36957955 [GRCh38]
Chr5:36958057 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5574+35T>C |
single nucleotide variant |
not provided [RCV001586464] |
Chr5:37022425 [GRCh38]
Chr5:37022527 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6955-122C>G |
single nucleotide variant |
not provided [RCV001557314] |
Chr5:37051657 [GRCh38]
Chr5:37051759 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5862+75dup |
duplication |
not provided [RCV001710163] |
Chr5:37027474..37027475 [GRCh38]
Chr5:37027576..37027577 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5710-78G>A |
single nucleotide variant |
not provided [RCV001571474] |
Chr5:37026151 [GRCh38]
Chr5:37026253 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3855+73A>G |
single nucleotide variant |
not provided [RCV001557877] |
Chr5:37003420 [GRCh38]
Chr5:37003522 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.64+215C>T |
single nucleotide variant |
not provided [RCV001530713] |
Chr5:36953975 [GRCh38]
Chr5:36954077 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4088-115C>T |
single nucleotide variant |
not provided [RCV001559625] |
Chr5:37007208 [GRCh38]
Chr5:37007310 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6764-164AC[13] |
microsatellite |
not provided [RCV001656804] |
Chr5:37048946..37048947 [GRCh38]
Chr5:37049048..37049049 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4240-48C>T |
single nucleotide variant |
not provided [RCV001716731] |
Chr5:37007960 [GRCh38]
Chr5:37008062 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3122-22dup |
duplication |
not provided [RCV001583301] |
Chr5:36995590..36995591 [GRCh38]
Chr5:36995692..36995693 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7410+10A>C |
single nucleotide variant |
not provided [RCV000900163]|not specified [RCV004800632] |
Chr5:37057342 [GRCh38]
Chr5:37057444 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3369A>G (p.Arg1123=) |
single nucleotide variant |
NIPBL-related disorder [RCV003943237]|not provided [RCV000974059] |
Chr5:37000437 [GRCh38]
Chr5:37000539 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2602C>A (p.Arg868=) |
single nucleotide variant |
not provided [RCV000929729] |
Chr5:36985782 [GRCh38]
Chr5:36985884 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2868T>C (p.Phe956=) |
single nucleotide variant |
not provided [RCV000915242] |
Chr5:36986048 [GRCh38]
Chr5:36986150 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3665-10G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603082] |
Chr5:37002652 [GRCh38]
Chr5:37002754 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001430158] |
Chr5:37006448 [GRCh38]
Chr5:37006550 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1992C>T (p.Asn664=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001153204]|Inborn genetic diseases [RCV002418596] |
Chr5:36985172 [GRCh38]
Chr5:36985274 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6764-35C>G |
single nucleotide variant |
not provided [RCV001665271] |
Chr5:37049076 [GRCh38]
Chr5:37049178 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1058A>G (p.Lys353Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001151938] |
Chr5:36975965 [GRCh38]
Chr5:36976067 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6620T>C (p.Met2207Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001213892] |
Chr5:37048532 [GRCh38]
Chr5:37048634 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.7623G>A (p.Gln2541=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001069183] |
Chr5:37059103 [GRCh38]
Chr5:37059205 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.-80+11G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157400] |
Chr5:36877189 [GRCh38]
Chr5:36877291 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3018A>G (p.Gln1006=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV000935132] |
Chr5:36986198 [GRCh38]
Chr5:36986300 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2101G>A (p.Glu701Lys) |
single nucleotide variant |
not provided [RCV004814551] |
Chr5:36985281 [GRCh38]
Chr5:36985383 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4735C>T (p.Pro1579Ser) |
single nucleotide variant |
not provided [RCV004814684] |
Chr5:37016129 [GRCh38]
Chr5:37016231 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7489G>A (p.Val2497Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038842]|not specified [RCV004799876] |
Chr5:37058969 [GRCh38]
Chr5:37059071 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1263G>A (p.Ser421=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497888] |
Chr5:36976170 [GRCh38]
Chr5:36976272 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5329-33A>G |
single nucleotide variant |
not provided [RCV001556625] |
Chr5:37022018 [GRCh38]
Chr5:37022120 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1646G>T (p.Gly549Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002901303] |
Chr5:36984826 [GRCh38]
Chr5:36984928 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6764-164AC[14] |
microsatellite |
not provided [RCV001637191] |
Chr5:37048946..37048947 [GRCh38]
Chr5:37049048..37049049 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.-457_-456delinsAT |
indel |
Neurodevelopmental abnormality [RCV001731236] |
Chr5:36876801..36876802 [GRCh38]
Chr5:36876903..36876904 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4239+40A>G |
single nucleotide variant |
not provided [RCV001557805] |
Chr5:37007514 [GRCh38]
Chr5:37007616 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.611-238G>A |
single nucleotide variant |
not provided [RCV001661099] |
Chr5:36970638 [GRCh38]
Chr5:36970740 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4644-287G>A |
single nucleotide variant |
not provided [RCV001577970] |
Chr5:37015751 [GRCh38]
Chr5:37015853 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.231-105_231-103del |
deletion |
not provided [RCV001557997] |
Chr5:36957984..36957986 [GRCh38]
Chr5:36958086..36958088 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5328+315G>T |
single nucleotide variant |
not provided [RCV001682237] |
Chr5:37021192 [GRCh38]
Chr5:37021294 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4239+266T>C |
single nucleotide variant |
not provided [RCV001558272] |
Chr5:37007740 [GRCh38]
Chr5:37007842 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.653T>C (p.Ile218Thr) |
single nucleotide variant |
not provided [RCV003108257] |
Chr5:36970918 [GRCh38]
Chr5:36971020 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5574+298T>C |
single nucleotide variant |
not provided [RCV001682094] |
Chr5:37022688 [GRCh38]
Chr5:37022790 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3121+285T>C |
single nucleotide variant |
not provided [RCV001640945] |
Chr5:36986586 [GRCh38]
Chr5:36986688 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.868+231C>T |
single nucleotide variant |
not provided [RCV001560929] |
Chr5:36972272 [GRCh38]
Chr5:36972374 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5954A>G (p.Tyr1985Cys) |
single nucleotide variant |
not provided [RCV002467258] |
Chr5:37036470 [GRCh38]
Chr5:37036572 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4513C>G (p.Pro1505Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002471391] |
Chr5:37010178 [GRCh38]
Chr5:37010280 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5809-32C>A |
single nucleotide variant |
not provided [RCV001569500] |
Chr5:37027327 [GRCh38]
Chr5:37027429 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3112T>A (p.Ser1038Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003771702]|not provided [RCV001556354] |
Chr5:36986292 [GRCh38]
Chr5:36986394 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.941T>C (p.Ile314Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003106702]|Inborn genetic diseases [RCV003162115] |
Chr5:36975848 [GRCh38]
Chr5:36975950 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.8152_8158del (p.Tyr2718fs) |
deletion |
not provided [RCV001009074] |
Chr5:37064624..37064630 [GRCh38]
Chr5:37064726..37064732 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4560+5G>C |
single nucleotide variant |
not provided [RCV004819101] |
Chr5:37010230 [GRCh38]
Chr5:37010332 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4239+152C>G |
single nucleotide variant |
not provided [RCV001674061] |
Chr5:37007626 [GRCh38]
Chr5:37007728 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5329-220T>C |
single nucleotide variant |
not provided [RCV001596699] |
Chr5:37021831 [GRCh38]
Chr5:37021933 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1495+38C>A |
single nucleotide variant |
not provided [RCV001719684] |
Chr5:36976440 [GRCh38]
Chr5:36976542 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.7686-47G>A |
single nucleotide variant |
not provided [RCV001656232] |
Chr5:37060797 [GRCh38]
Chr5:37060899 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4087+299T>A |
single nucleotide variant |
not provided [RCV001637394] |
Chr5:37006887 [GRCh38]
Chr5:37006989 [GRCh37]
Chr5:5p13.2 |
benign |
| GRCh37/hg19 5p13.2(chr5:37049896-37374124)x3 |
copy number gain |
not provided [RCV001005671] |
Chr5:37049896..37374124 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4561-86C>T |
single nucleotide variant |
not provided [RCV001653257] |
Chr5:37014597 [GRCh38]
Chr5:37014699 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.231-104_231-103del |
deletion |
not provided [RCV001722008] |
Chr5:36957984..36957985 [GRCh38]
Chr5:36958086..36958087 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.4560+121C>T |
single nucleotide variant |
not provided [RCV001722012] |
Chr5:37010346 [GRCh38]
Chr5:37010448 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5575-168A>T |
single nucleotide variant |
not provided [RCV001722014] |
Chr5:37024417 [GRCh38]
Chr5:37024519 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5574+261T>A |
single nucleotide variant |
not provided [RCV001684004] |
Chr5:37022651 [GRCh38]
Chr5:37022753 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5863-31_5863-30insGTATATATATAT |
insertion |
not provided [RCV001596430] |
Chr5:37036347..37036348 [GRCh38]
Chr5:37036449..37036450 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5574+283G>A |
single nucleotide variant |
not provided [RCV001598817] |
Chr5:37022673 [GRCh38]
Chr5:37022775 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002538658]|not provided [RCV001713311] |
Chr5:36985166 [GRCh38]
Chr5:36985268 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5011-13A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001155912] |
Chr5:37020446 [GRCh38]
Chr5:37020548 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.658G>C (p.Asp220His) |
single nucleotide variant |
Intellectual disability [RCV001251849] |
Chr5:36970923 [GRCh38]
Chr5:36971025 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7517G>A (p.Arg2506His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038015]|Intellectual disability [RCV001251851] |
Chr5:37058997 [GRCh38]
Chr5:37059099 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.407G>A (p.Ser136Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157402] |
Chr5:36961532 [GRCh38]
Chr5:36961634 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2864A>C (p.Asn955Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157507] |
Chr5:36986044 [GRCh38]
Chr5:36986146 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3102A>G (p.Lys1034=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157509] |
Chr5:36986282 [GRCh38]
Chr5:36986384 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.873A>C (p.Ser291=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001151936] |
Chr5:36975780 [GRCh38]
Chr5:36975882 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2479del (p.Arg827fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001222474] |
Chr5:36985659 [GRCh38]
Chr5:36985761 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7850_7851del (p.Gln2617fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001069685] |
Chr5:37061008..37061009 [GRCh38]
Chr5:37061110..37061111 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.689A>G (p.Asn230Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001151935] |
Chr5:36970954 [GRCh38]
Chr5:36971056 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3928G>A (p.Ala1310Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001706818] |
Chr5:37006429 [GRCh38]
Chr5:37006531 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5329-184A>G |
single nucleotide variant |
not provided [RCV001585319] |
Chr5:37021867 [GRCh38]
Chr5:37021969 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5809-69A>G |
single nucleotide variant |
not provided [RCV001534252] |
Chr5:37027290 [GRCh38]
Chr5:37027392 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8331del (p.Ala2777_Leu2778insTer) |
deletion |
Cornelia de Lange syndrome 1 [RCV001071919] |
Chr5:37064808 [GRCh38]
Chr5:37064910 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3856-180T>C |
single nucleotide variant |
not provided [RCV001538198] |
Chr5:37006177 [GRCh38]
Chr5:37006279 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3402_3403del (p.Ser1134_His1135insTer) |
microsatellite |
not provided [RCV001596914] |
Chr5:37000467..37000468 [GRCh38]
Chr5:37000569..37000570 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5372A>G (p.Lys1791Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038249]|not provided [RCV001531419] |
Chr5:37022094 [GRCh38]
Chr5:37022196 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.241del (p.Asp81fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001067929] |
Chr5:36958114 [GRCh38]
Chr5:36958216 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2128C>T (p.Arg710Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001041582] |
Chr5:36985308 [GRCh38]
Chr5:36985410 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7489G>T (p.Val2497Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001068889] |
Chr5:37058969 [GRCh38]
Chr5:37059071 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2411_2412dup (p.Pro805fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001232098] |
Chr5:36985587..36985588 [GRCh38]
Chr5:36985689..36985690 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4204G>C (p.Glu1402Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001152040]|NIPBL-related disorder [RCV003393860] |
Chr5:37007439 [GRCh38]
Chr5:37007541 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8139T>C (p.Ile2713=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001152140]|NIPBL-related disorder [RCV004740602] |
Chr5:37064616 [GRCh38]
Chr5:37064718 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.8270G>T (p.Arg2757Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001249320]|not provided [RCV001562918] |
Chr5:37064747 [GRCh38]
Chr5:37064849 [GRCh37]
Chr5:5p13.2 |
uncertain significance|not provided |
| NM_133433.4(NIPBL):c.3548C>T (p.Ala1183Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001198451] |
Chr5:37000862 [GRCh38]
Chr5:37000964 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2479A>G (p.Arg827Gly) |
single nucleotide variant |
not provided [RCV001200513] |
Chr5:36985659 [GRCh38]
Chr5:36985761 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5054C>T (p.Thr1685Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038014]|De Lange syndrome [RCV001249780] |
Chr5:37020502 [GRCh38]
Chr5:37020604 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4516T>C (p.Ser1506Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002480456]|not provided [RCV001091476] |
Chr5:37010181 [GRCh38]
Chr5:37010283 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5507G>A (p.Gly1836Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001057319] |
Chr5:37022323 [GRCh38]
Chr5:37022425 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.5641A>G (p.Thr1881Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001198507] |
Chr5:37024651 [GRCh38]
Chr5:37024753 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3534_3535del (p.Lys1179fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001199109] |
Chr5:37000847..37000848 [GRCh38]
Chr5:37000949..37000950 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5767_5769del (p.Lys1923del) |
deletion |
Cornelia de Lange syndrome 1 [RCV001216095] |
Chr5:37026286..37026288 [GRCh38]
Chr5:37026388..37026390 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1228A>G (p.Ile410Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001153201] |
Chr5:36976135 [GRCh38]
Chr5:36976237 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.313A>G (p.Asn105Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157401]|Inborn genetic diseases [RCV002320381] |
Chr5:36958186 [GRCh38]
Chr5:36958288 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7749_7755dup (p.Val2586fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001204157] |
Chr5:37060905..37060906 [GRCh38]
Chr5:37061007..37061008 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3758_3759del (p.Ile1253fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001230878] |
Chr5:37002753..37002754 [GRCh38]
Chr5:37002855..37002856 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1593G>A (p.Thr531=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001153203] |
Chr5:36984773 [GRCh38]
Chr5:36984875 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.*351G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001153424] |
Chr5:37065243 [GRCh38]
Chr5:37065345 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2137A>G (p.Thr713Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001155802]|NIPBL-related disorder [RCV004740604] |
Chr5:36985317 [GRCh38]
Chr5:36985419 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6604C>A (p.Gln2202Lys) |
single nucleotide variant |
not provided [RCV001091477] |
Chr5:37048516 [GRCh38]
Chr5:37048618 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.461G>A (p.Arg154Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003769017]|not provided [RCV001090997] |
Chr5:36962125 [GRCh38]
Chr5:36962227 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7503G>T (p.Arg2501=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001228873] |
Chr5:37058983 [GRCh38]
Chr5:37059085 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4834T>G (p.Tyr1612Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001056756] |
Chr5:37017076 [GRCh38]
Chr5:37017178 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6369A>T (p.Gln2123His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001157614] |
Chr5:37045468 [GRCh38]
Chr5:37045570 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7967dup (p.Gly2657fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001039348] |
Chr5:37063894..37063895 [GRCh38]
Chr5:37063996..37063997 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7552G>A (p.Asp2518Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001253659] |
Chr5:37059032 [GRCh38]
Chr5:37059134 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1285C>G (p.Leu429Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001253620] |
Chr5:36976192 [GRCh38]
Chr5:36976294 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004799384] |
Chr5:36962143 [GRCh38]
Chr5:36962245 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8370del (p.Thr2791fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001253571] |
Chr5:37064847 [GRCh38]
Chr5:37064949 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3664+221G>A |
single nucleotide variant |
not provided [RCV001580889] |
Chr5:37001299 [GRCh38]
Chr5:37001401 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1411T>G (p.Leu471Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002284988] |
Chr5:36976318 [GRCh38]
Chr5:36976420 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 |
copy number gain |
musculoskeletal system issues [RCV002284293] |
Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11 |
pathogenic |
| NM_133433.4(NIPBL):c.841C>G (p.Pro281Ala) |
single nucleotide variant |
Intellectual disability [RCV001257607] |
Chr5:36972014 [GRCh38]
Chr5:36972116 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002485997] |
Chr5:37046187 [GRCh38]
Chr5:37046289 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2(chr5:36960223-37813255)x3 |
copy number gain |
not provided [RCV001258678] |
Chr5:36960223..37813255 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1052C>T (p.Pro351Leu) |
single nucleotide variant |
Plagiocephaly [RCV001257266] |
Chr5:36975959 [GRCh38]
Chr5:36976061 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6470A>G (p.Asp2157Gly) |
single nucleotide variant |
Intellectual disability [RCV001257608] |
Chr5:37045569 [GRCh38]
Chr5:37045671 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7288T>C (p.Tyr2430His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001261283] |
Chr5:37057210 [GRCh38]
Chr5:37057312 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7400_7401insT (p.Phe2468fs) |
insertion |
Inborn genetic diseases [RCV001266083] |
Chr5:37057322..37057323 [GRCh38]
Chr5:37057424..37057425 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3527A>G (p.Glu1176Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001262650] |
Chr5:37000841 [GRCh38]
Chr5:37000943 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 |
copy number gain |
not provided [RCV001537930] |
Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11 |
pathogenic |
| NM_133433.4(NIPBL):c.1717T>C (p.Cys573Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001262607] |
Chr5:36984897 [GRCh38]
Chr5:36984999 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5891A>G (p.Tyr1964Cys) |
single nucleotide variant |
not provided [RCV001531420] |
Chr5:37036407 [GRCh38]
Chr5:37036509 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2035T>A (p.Ser679Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001332856] |
Chr5:36985215 [GRCh38]
Chr5:36985317 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3222_3223insT (p.Lys1075Ter) |
insertion |
not provided [RCV001268339] |
Chr5:36995722..36995723 [GRCh38]
Chr5:36995824..36995825 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3949A>G (p.Ile1317Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001270890] |
Chr5:37006450 [GRCh38]
Chr5:37006552 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 |
copy number gain |
See cases [RCV001310288] |
Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12 |
pathogenic |
| NM_133433.4(NIPBL):c.1925C>T (p.Thr642Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001262818] |
Chr5:36985105 [GRCh38]
Chr5:36985207 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2841_2843del (p.Gly948del) |
deletion |
Cornelia de Lange syndrome 1 [RCV005094339]|not provided [RCV001288258] |
Chr5:36986018..36986020 [GRCh38]
Chr5:36986120..36986122 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5575-1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497920]|not provided [RCV001291554] |
Chr5:37024584 [GRCh38]
Chr5:37024686 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1224A>G (p.Gln408=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001318366] |
Chr5:36976131 [GRCh38]
Chr5:36976233 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.64+4del |
deletion |
Cornelia de Lange syndrome 1 [RCV001294702] |
Chr5:36953763 [GRCh38]
Chr5:36953865 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.386C>G (p.Ser129Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001304355] |
Chr5:36961511 [GRCh38]
Chr5:36961613 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7199G>C (p.Arg2400Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001296772] |
Chr5:37052502 [GRCh38]
Chr5:37052604 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.4173_4174del (p.Cys1391_Asp1392delinsTer) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001283782] |
Chr5:37007406..37007407 [GRCh38]
Chr5:37007508..37007509 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001395781] |
Chr5:37000520 [GRCh38]
Chr5:37000622 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2741C>G (p.Thr914Ser) |
single nucleotide variant |
Nephronophthisis [RCV001328046] |
Chr5:36985921 [GRCh38]
Chr5:36986023 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2405A>G (p.Lys802Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001332857] |
Chr5:36985585 [GRCh38]
Chr5:36985687 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5710-59A>G |
single nucleotide variant |
not provided [RCV001538588] |
Chr5:37026170 [GRCh38]
Chr5:37026272 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7264-239C>G |
single nucleotide variant |
not provided [RCV001527956] |
Chr5:37056947 [GRCh38]
Chr5:37057049 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1849G>A (p.Glu617Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001332855] |
Chr5:36985029 [GRCh38]
Chr5:36985131 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5582G>T (p.Gly1861Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001323985] |
Chr5:37024592 [GRCh38]
Chr5:37024694 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6343+4A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001309782] |
Chr5:37044733 [GRCh38]
Chr5:37044835 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.432A>C (p.Gln144His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001270407] |
Chr5:36961557 [GRCh38]
Chr5:36961659 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3894C>G (p.Asp1298Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001372362] |
Chr5:37006395 [GRCh38]
Chr5:37006497 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6911T>G (p.Val2304Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001369564] |
Chr5:37049258 [GRCh38]
Chr5:37049360 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2332G>C (p.Glu778Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001301016] |
Chr5:36985512 [GRCh38]
Chr5:36985614 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4561del (p.Ile1521fs) |
deletion |
not provided [RCV001269508] |
Chr5:37010220 [GRCh38]
Chr5:37010322 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del) |
deletion |
Cornelia de Lange syndrome 1 [RCV001526479] |
Chr5:37048614..37048616 [GRCh38]
Chr5:37048716..37048718 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001454352] |
Chr5:37038627 [GRCh38]
Chr5:37038729 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2877G>A (p.Pro959=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001485276] |
Chr5:36986057 [GRCh38]
Chr5:36986159 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001424747]|not specified [RCV004801015] |
Chr5:36985076 [GRCh38]
Chr5:36985178 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NC_000005.9:g.(?_37045525)_(37048797_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001377921] |
Chr5:37045525..37048797 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6455G>C (p.Arg2152Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001378278] |
Chr5:37045554 [GRCh38]
Chr5:37045656 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5269del (p.Val1757fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001383591] |
Chr5:37020818 [GRCh38]
Chr5:37020920 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5808+2T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001377045] |
Chr5:37026329 [GRCh38]
Chr5:37026431 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NC_000005.9:g.(?_37057268)_(37061140_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001377922] |
Chr5:37057268..37061140 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.8390_8396del (p.Ala2797fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV002251015] |
Chr5:37064867..37064873 [GRCh38]
Chr5:37064969..37064975 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2703T>C (p.Asn901=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001418483]|not provided [RCV001531417] |
Chr5:36985883 [GRCh38]
Chr5:36985985 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4335T>G (p.Tyr1445Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001389757] |
Chr5:37008637 [GRCh38]
Chr5:37008739 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5011-62T>C |
single nucleotide variant |
not provided [RCV001540399] |
Chr5:37020397 [GRCh38]
Chr5:37020499 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.8326del (p.Ile2776fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001389761] |
Chr5:37064797 [GRCh38]
Chr5:37064899 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8374_8375del (p.Leu2792fs) |
deletion |
not provided [RCV001541930] |
Chr5:37064850..37064851 [GRCh38]
Chr5:37064952..37064953 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7013del (p.Ala2338fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001388587] |
Chr5:37051837 [GRCh38]
Chr5:37051939 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4675_4750dup (p.Leu1584delinsGlnThrThrValTer) |
duplication |
Cornelia de Lange syndrome 1 [RCV001385444] |
Chr5:37016065..37016066 [GRCh38]
Chr5:37016167..37016168 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.9:g.(?_36953799)_(37064994_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001388564] |
Chr5:36953799..37064994 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1942del (p.Thr648fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001388847] |
Chr5:36985120 [GRCh38]
Chr5:36985222 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7854del (p.Tyr2618_Leu2619insTer) |
deletion |
Cornelia de Lange syndrome 1 [RCV001382045] |
Chr5:37061012 [GRCh38]
Chr5:37061114 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6954+3A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002568143]|Global developmental delay [RCV001527603]|Inborn genetic diseases [RCV002377897] |
Chr5:37049304 [GRCh38]
Chr5:37049406 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3665-98T>C |
single nucleotide variant |
not provided [RCV001714765] |
Chr5:37002564 [GRCh38]
Chr5:37002666 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5863-30A>G |
single nucleotide variant |
NIPBL-related disorder [RCV003910940]|not provided [RCV001648559] |
Chr5:37036349 [GRCh38]
Chr5:37036451 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.6498+64T>A |
single nucleotide variant |
not provided [RCV001717098] |
Chr5:37045661 [GRCh38]
Chr5:37045763 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.7685+113G>A |
single nucleotide variant |
not provided [RCV001591436] |
Chr5:37059278 [GRCh38]
Chr5:37059380 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7860+39G>A |
single nucleotide variant |
not provided [RCV001710108] |
Chr5:37061057 [GRCh38]
Chr5:37061159 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.6343+276_6343+284del |
deletion |
not provided [RCV001587073] |
Chr5:37045002..37045010 [GRCh38]
Chr5:37045104..37045112 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.231-103del |
deletion |
not provided [RCV001651752] |
Chr5:36957984 [GRCh38]
Chr5:36958086 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3856-10T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001465973] |
Chr5:37006347 [GRCh38]
Chr5:37006449 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6166C>A (p.Pro2056Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001528132] |
Chr5:37044404 [GRCh38]
Chr5:37044506 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6498+91A>G |
single nucleotide variant |
not provided [RCV001589824] |
Chr5:37045688 [GRCh38]
Chr5:37045790 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8084C>T (p.Thr2695Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005094844]|Inborn genetic diseases [RCV002592505]|not provided [RCV001592627] |
Chr5:37064561 [GRCh38]
Chr5:37064663 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3304+121T>C |
single nucleotide variant |
not provided [RCV001649893] |
Chr5:36995925 [GRCh38]
Chr5:36996027 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3304+136dup |
duplication |
not provided [RCV001690167] |
Chr5:36995933..36995934 [GRCh38]
Chr5:36996035..36996036 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5427+34C>T |
single nucleotide variant |
not provided [RCV001708870] |
Chr5:37022183 [GRCh38]
Chr5:37022285 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1321A>G (p.Thr441Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001459626] |
Chr5:36976228 [GRCh38]
Chr5:36976330 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2837dup (p.Leu946fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001388525] |
Chr5:36986015..36986016 [GRCh38]
Chr5:36986117..36986118 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4643+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001387621] |
Chr5:37014766 [GRCh38]
Chr5:37014868 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2207del (p.Pro736fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001390162] |
Chr5:36985386 [GRCh38]
Chr5:36985488 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003108482] |
Chr5:37000386 [GRCh38]
Chr5:37000488 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5936T>G (p.Val1979Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002244262] |
Chr5:37036452 [GRCh38]
Chr5:37036554 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6763+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002249109] |
Chr5:37048680 [GRCh38]
Chr5:37048782 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2751T>C (p.Asp917=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003108490] |
Chr5:36985931 [GRCh38]
Chr5:36986033 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6658T>G (p.Leu2220Val) |
single nucleotide variant |
not provided [RCV001755229] |
Chr5:37048570 [GRCh38]
Chr5:37048672 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8299A>G (p.Lys2767Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001730079] |
Chr5:37064776 [GRCh38]
Chr5:37064878 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003107303] |
Chr5:37045483 [GRCh38]
Chr5:37045585 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8384T>C (p.Leu2795Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001729992] |
Chr5:37064861 [GRCh38]
Chr5:37064963 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1690A>G (p.Ile564Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005032223]|Inborn genetic diseases [RCV002400415]|not provided [RCV002284877] |
Chr5:36984870 [GRCh38]
Chr5:36984972 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.359G>C (p.Gly120Ala) |
single nucleotide variant |
not provided [RCV001727319] |
Chr5:36961484 [GRCh38]
Chr5:36961586 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7166G>T (p.Ser2389Ile) |
single nucleotide variant |
not provided [RCV001727320] |
Chr5:37052469 [GRCh38]
Chr5:37052571 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6301C>T (p.Gln2101Ter) |
single nucleotide variant |
not provided [RCV004784710] |
Chr5:37044687 [GRCh38]
Chr5:37044789 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2933T>C (p.Met978Thr) |
single nucleotide variant |
not provided [RCV001754962] |
Chr5:36986113 [GRCh38]
Chr5:36986215 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2054A>G (p.Asp685Gly) |
single nucleotide variant |
not provided [RCV001761235] |
Chr5:36985234 [GRCh38]
Chr5:36985336 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7063A>G (p.Met2355Val) |
single nucleotide variant |
not specified [RCV002238674] |
Chr5:37052366 [GRCh38]
Chr5:37052468 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.209A>G (p.Asn70Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002488497]|not provided [RCV001732844] |
Chr5:36955616 [GRCh38]
Chr5:36955718 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.793_794insTTCC (p.Arg265fs) |
insertion |
Cornelia de Lange syndrome 1 [RCV002273104] |
Chr5:36971966..36971967 [GRCh38]
Chr5:36972068..36972069 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6975T>C (p.Ala2325=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005095863]|See cases [RCV002252625] |
Chr5:37051799 [GRCh38]
Chr5:37051901 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.8414A>C (p.Ter2805Ser) |
single nucleotide variant |
not provided [RCV001754277] |
Chr5:37064891 [GRCh38]
Chr5:37064993 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7111A>G (p.Ile2371Val) |
single nucleotide variant |
not provided [RCV001764822] |
Chr5:37052414 [GRCh38]
Chr5:37052516 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5681G>T (p.Arg1894Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038295]|not provided [RCV001770963] |
Chr5:37024691 [GRCh38]
Chr5:37024793 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4170T>A (p.Val1390=) |
single nucleotide variant |
not provided [RCV001771057] |
Chr5:37007405 [GRCh38]
Chr5:37007507 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.10dup (p.Asp4fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001775298] |
Chr5:36953702..36953703 [GRCh38]
Chr5:36953804..36953805 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3516G>T (p.Met1172Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002543978]|not provided [RCV001765003] |
Chr5:37000830 [GRCh38]
Chr5:37000932 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1361A>C (p.Gln454Pro) |
single nucleotide variant |
not provided [RCV001771563] |
Chr5:36976268 [GRCh38]
Chr5:36976370 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7948dup (p.Ile2650fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001796999] |
Chr5:37063875..37063876 [GRCh38]
Chr5:37063977..37063978 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4643+1_4643+10del |
deletion |
not provided [RCV003238012] |
Chr5:37014762..37014771 [GRCh38]
Chr5:37014864..37014873 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.869-640G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001733845] |
Chr5:36975136 [GRCh38]
Chr5:36975238 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5862+3487C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001733846] |
Chr5:37030899 [GRCh38]
Chr5:37031001 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6988C>A (p.Pro2330Thr) |
single nucleotide variant |
not provided [RCV001763920] |
Chr5:37051812 [GRCh38]
Chr5:37051914 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5863-52del |
deletion |
not provided [RCV001786229] |
Chr5:37036319 [GRCh38]
Chr5:37036421 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5982del (p.Asn1994fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001775369] |
Chr5:37038612 [GRCh38]
Chr5:37038714 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6194T>C (p.Phe2065Ser) |
single nucleotide variant |
not provided [RCV001773892] |
Chr5:37044432 [GRCh38]
Chr5:37044534 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5225A>G (p.Lys1742Arg) |
single nucleotide variant |
not provided [RCV001765091] |
Chr5:37020673 [GRCh38]
Chr5:37020775 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.527G>C (p.Ser176Thr) |
single nucleotide variant |
not provided [RCV001765864] |
Chr5:36962191 [GRCh38]
Chr5:36962293 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5009T>G (p.Val1670Gly) |
single nucleotide variant |
not provided [RCV001770792] |
Chr5:37019399 [GRCh38]
Chr5:37019501 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5396TTG[1] (p.Val1800del) |
microsatellite |
not provided [RCV001774463] |
Chr5:37022117..37022119 [GRCh38]
Chr5:37022219..37022221 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.606A>T (p.Gln202His) |
single nucleotide variant |
not provided [RCV001765914] |
Chr5:36962270 [GRCh38]
Chr5:36962372 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6922A>T (p.Thr2308Ser) |
single nucleotide variant |
not provided [RCV001761178] |
Chr5:37049269 [GRCh38]
Chr5:37049371 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5808+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001771778] |
Chr5:37026332 [GRCh38]
Chr5:37026434 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.4714A>G (p.Thr1572Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004040843]|not provided [RCV001794581] |
Chr5:37016108 [GRCh38]
Chr5:37016210 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6886A>T (p.Ser2296Cys) |
single nucleotide variant |
not provided [RCV001786766] |
Chr5:37049233 [GRCh38]
Chr5:37049335 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2140C>T (p.Pro714Ser) |
single nucleotide variant |
not provided [RCV001758139] |
Chr5:36985320 [GRCh38]
Chr5:36985422 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3747A>G (p.Lys1249=) |
single nucleotide variant |
not specified [RCV001817318] |
Chr5:37002744 [GRCh38]
Chr5:37002846 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1436G>A (p.Arg479Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001810312]|not provided [RCV001758703] |
Chr5:36976343 [GRCh38]
Chr5:36976445 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 5p13.2(chr5:36503465-36916858)x3 |
copy number gain |
not provided [RCV001833013] |
Chr5:36503465..36916858 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3709C>T (p.Gln1237Ter) |
single nucleotide variant |
not provided [RCV001817806] |
Chr5:37002706 [GRCh38]
Chr5:37002808 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4901T>C (p.Ile1634Thr) |
single nucleotide variant |
not provided [RCV001814663] |
Chr5:37017143 [GRCh38]
Chr5:37017245 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001802689] |
Chr5:37020499 [GRCh38]
Chr5:37020601 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4678C>T (p.Pro1560Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002542459]|not provided [RCV001814800] |
Chr5:37016072 [GRCh38]
Chr5:37016174 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6760_6761del (p.Asp2254fs) |
microsatellite |
not provided [RCV001817934] |
Chr5:37048669..37048670 [GRCh38]
Chr5:37048771..37048772 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5822_5834del (p.Arg1941fs) |
deletion |
not provided [RCV001817638] |
Chr5:37027371..37027383 [GRCh38]
Chr5:37027473..37027485 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4810_4817dup (p.Arg1606_Val1607insLeuTer) |
duplication |
not provided [RCV001818021] |
Chr5:37017050..37017051 [GRCh38]
Chr5:37017152..37017153 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1817C>T (p.Pro606Leu) |
single nucleotide variant |
not specified [RCV001820533] |
Chr5:36984997 [GRCh38]
Chr5:36985099 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.654_657del (p.Ile218fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001808232] |
Chr5:36970915..36970918 [GRCh38]
Chr5:36971017..36971020 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3178del (p.Glu1060fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV002044685] |
Chr5:36995678 [GRCh38]
Chr5:36995780 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1786_1790del (p.Asn595_His596insTer) |
deletion |
Cornelia de Lange syndrome 1 [RCV001914788] |
Chr5:36984965..36984969 [GRCh38]
Chr5:36985067..36985071 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) |
copy number gain |
not specified [RCV002053485] |
Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:36848530-37354525) |
copy number gain |
not specified [RCV002053486] |
Chr5:36848530..37354525 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.9:g.(?_37002744)_(37008845_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001983017] |
Chr5:37002744..37008845 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:37044025-37300606)x3 |
copy number gain |
not provided [RCV001836505] |
Chr5:37044025..37300606 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.9:g.(?_36953718)_(37027534_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001946804] |
Chr5:36953718..37027534 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.610G>A (p.Ala204Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002022058] |
Chr5:36962274 [GRCh38]
Chr5:36962376 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3040C>T (p.Gln1014Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001914292] |
Chr5:36986220 [GRCh38]
Chr5:36986322 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5115T>C (p.His1705=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001839188] |
Chr5:37020563 [GRCh38]
Chr5:37020665 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7079G>A (p.Gly2360Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002043740] |
Chr5:37052382 [GRCh38]
Chr5:37052484 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7372T>C (p.Ser2458Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001983896] |
Chr5:37057294 [GRCh38]
Chr5:37057396 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6189A>T (p.Glu2063Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002040910] |
Chr5:37044427 [GRCh38]
Chr5:37044529 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2(chr5:36902395-36963396) |
copy number loss |
not specified [RCV002053487] |
Chr5:36902395..36963396 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6886A>G (p.Ser2296Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001843875] |
Chr5:37049233 [GRCh38]
Chr5:37049335 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4502_4503dup (p.Val1502fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001910884] |
Chr5:37010161..37010162 [GRCh38]
Chr5:37010263..37010264 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1981T>C (p.Cys661Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002004709] |
Chr5:36985161 [GRCh38]
Chr5:36985263 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4117G>A (p.Ala1373Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001984169] |
Chr5:37007352 [GRCh38]
Chr5:37007454 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3380A>G (p.Asp1127Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001889781] |
Chr5:37000448 [GRCh38]
Chr5:37000550 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2515A>G (p.Arg839Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001986724]|Inborn genetic diseases [RCV003339878] |
Chr5:36985695 [GRCh38]
Chr5:36985797 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4673A>C (p.Tyr1558Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002001939] |
Chr5:37016067 [GRCh38]
Chr5:37016169 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6359T>G (p.Leu2120Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001872180] |
Chr5:37045458 [GRCh38]
Chr5:37045560 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001839100]|not specified [RCV004801058] |
Chr5:36985027 [GRCh38]
Chr5:36985129 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-79-11559C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001839367] |
Chr5:36942059 [GRCh38]
Chr5:36942161 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3100A>T (p.Lys1034Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001924512] |
Chr5:36986280 [GRCh38]
Chr5:36986382 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2774A>G (p.Lys925Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001888651] |
Chr5:36985954 [GRCh38]
Chr5:36986056 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7808A>C (p.Asn2603Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001942815] |
Chr5:37060966 [GRCh38]
Chr5:37061068 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6249+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001961725] |
Chr5:37044488 [GRCh38]
Chr5:37044590 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5725dup (p.Thr1909fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001915707] |
Chr5:37026241..37026242 [GRCh38]
Chr5:37026343..37026344 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.373C>T (p.Gln125Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001901074] |
Chr5:36961498 [GRCh38]
Chr5:36961600 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7553A>G (p.Asp2518Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002020000] |
Chr5:37059033 [GRCh38]
Chr5:37059135 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.442_443dup (p.Ser150fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV001942032] |
Chr5:36961564..36961565 [GRCh38]
Chr5:36961666..36961667 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4455_4456dup (p.Tyr1486fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001961980] |
Chr5:37010118..37010119 [GRCh38]
Chr5:37010220..37010221 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4593T>A (p.Tyr1531Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001958785] |
Chr5:37014715 [GRCh38]
Chr5:37014817 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001954200] |
Chr5:37020844 [GRCh38]
Chr5:37020946 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1828_1829del (p.Lys610fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001956434] |
Chr5:36985007..36985008 [GRCh38]
Chr5:36985109..36985110 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3778G>A (p.Asp1260Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001995071] |
Chr5:37003270 [GRCh38]
Chr5:37003372 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3310A>G (p.Arg1104Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002014617] |
Chr5:37000378 [GRCh38]
Chr5:37000480 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8326dup (p.Ile2776fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001897002] |
Chr5:37064796..37064797 [GRCh38]
Chr5:37064898..37064899 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2681G>A (p.Arg894His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002026193] |
Chr5:36985861 [GRCh38]
Chr5:36985963 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3406G>T (p.Glu1136Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001953674] |
Chr5:37000474 [GRCh38]
Chr5:37000576 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.-320C>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001951133] |
Chr5:36876938 [GRCh38]
Chr5:36877040 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1513dup (p.Arg505fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001975107] |
Chr5:36984686..36984687 [GRCh38]
Chr5:36984788..36984789 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1643C>G (p.Ala548Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001905122] |
Chr5:36984823 [GRCh38]
Chr5:36984925 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3574+7C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001959155] |
Chr5:37000895 [GRCh38]
Chr5:37000997 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.334A>C (p.Met112Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002014462] |
Chr5:36958207 [GRCh38]
Chr5:36958309 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2997del (p.Lys1000fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001997116] |
Chr5:36986177 [GRCh38]
Chr5:36986279 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5741G>C (p.Trp1914Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV001975768] |
Chr5:37026260 [GRCh38]
Chr5:37026362 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.494G>A (p.Arg165Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002033945] |
Chr5:36962158 [GRCh38]
Chr5:36962260 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6080_6083dup (p.Gln2028fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV001917637] |
Chr5:37038708..37038709 [GRCh38]
Chr5:37038810..37038811 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1672del (p.Thr558fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001975108] |
Chr5:36984851 [GRCh38]
Chr5:36984953 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.9:g.(?_36970958)_(37371079_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001959133] |
Chr5:36970958..37371079 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3040del (p.Gln1014fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001922341] |
Chr5:36986220 [GRCh38]
Chr5:36986322 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1949A>C (p.Glu650Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002018832] |
Chr5:36985129 [GRCh38]
Chr5:36985231 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.9:g.(?_36958186)_(36962396_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV001956447] |
Chr5:36958186..36962396 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV001974617]|Inborn genetic diseases [RCV002361269] |
Chr5:37048588..37048591 [GRCh38]
Chr5:37048690..37048693 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6290A>G (p.Asn2097Ser) |
single nucleotide variant |
not provided [RCV002224822] |
Chr5:37044676 [GRCh38]
Chr5:37044778 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5403T>C (p.Ala1801=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002207607] |
Chr5:37022125 [GRCh38]
Chr5:37022227 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4087+9G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002129497]|NIPBL-related disorder [RCV003958723] |
Chr5:37006597 [GRCh38]
Chr5:37006699 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7658T>G (p.Leu2553Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002077376] |
Chr5:37059138 [GRCh38]
Chr5:37059240 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.230+10A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002096319] |
Chr5:36955647 [GRCh38]
Chr5:36955749 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.123C>T (p.Leu41=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002096484]|NIPBL-related disorder [RCV003893304] |
Chr5:36955530 [GRCh38]
Chr5:36955632 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.458+18C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002092863] |
Chr5:36961601 [GRCh38]
Chr5:36961703 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002193500] |
Chr5:37038702 [GRCh38]
Chr5:37038804 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1178A>G (p.Asn393Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002225163] |
Chr5:36976085 [GRCh38]
Chr5:36976187 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.-79-1563_-79-1534del |
deletion |
not provided [RCV002214351] |
Chr5:36952045..36952074 [GRCh38]
Chr5:36952147..36952176 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.200A>G (p.His67Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005032189]|not provided [RCV002214352] |
Chr5:36955607 [GRCh38]
Chr5:36955709 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1383A>G (p.Gln461=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002220528] |
Chr5:36976290 [GRCh38]
Chr5:36976392 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.869-16C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002117962] |
Chr5:36975760 [GRCh38]
Chr5:36975862 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.5225+7T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002218823] |
Chr5:37020680 [GRCh38]
Chr5:37020782 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.300G>A (p.Leu100=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002164117]|NIPBL-related disorder [RCV003978880] |
Chr5:36958173 [GRCh38]
Chr5:36958275 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1278A>T (p.Thr426=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002178208] |
Chr5:36976185 [GRCh38]
Chr5:36976287 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6249+14T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002201113] |
Chr5:37044501 [GRCh38]
Chr5:37044603 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2616T>C (p.His872=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002103967] |
Chr5:36985796 [GRCh38]
Chr5:36985898 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.606A>G (p.Gln202=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002203839] |
Chr5:36962270 [GRCh38]
Chr5:36962372 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7502G>A (p.Arg2501Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003110854] |
Chr5:37058982 [GRCh38]
Chr5:37059084 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5811T>G (p.Val1937=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003112304] |
Chr5:37027361 [GRCh38]
Chr5:37027463 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.398T>C (p.Met133Thr) |
single nucleotide variant |
not provided [RCV003123211] |
Chr5:36961523 [GRCh38]
Chr5:36961625 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.9:g.(?_36953718)_(37371079_?)del |
deletion |
not provided [RCV003122620] |
Chr5:36953718..37371079 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.9:g.(?_36953718)_(37324229_?)dup |
duplication |
not provided [RCV003122628] |
Chr5:36953718..37324229 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.9:g.(?_37036461)_(37036609_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV003123046] |
Chr5:37036461..37036609 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.9:g.(?_37002744)_(37046321_?)dup |
duplication |
Cornelia de Lange syndrome 1 [RCV003123047] |
Chr5:37002744..37046321 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1345dup (p.Gln449fs) |
duplication |
not provided [RCV003120393] |
Chr5:36976248..36976249 [GRCh38]
Chr5:36976350..36976351 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.458+9T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003121085] |
Chr5:36961592 [GRCh38]
Chr5:36961694 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1586G>T (p.Gly529Val) |
single nucleotide variant |
not provided [RCV004786154] |
Chr5:36984766 [GRCh38]
Chr5:36984868 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1495G>A (p.Asp499Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003225878]|not provided [RCV004725648] |
Chr5:36976402 [GRCh38]
Chr5:36976504 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.2093del (p.Lys697_Ser698insTer) |
deletion |
Cornelia de Lange syndrome 1 [RCV003148082] |
Chr5:36985273 [GRCh38]
Chr5:36985375 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2078C>G (p.Ser693Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003153052] |
Chr5:36985258 [GRCh38]
Chr5:36985360 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.812C>T (p.Pro271Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003148202] |
Chr5:36971985 [GRCh38]
Chr5:36972087 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002250148]|Inborn genetic diseases [RCV004958501]|not provided [RCV004719244] |
Chr5:37000384 [GRCh38]
Chr5:37000486 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002250150] |
Chr5:37057229 [GRCh38]
Chr5:37057331 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6588A>G (p.Leu2196=) |
single nucleotide variant |
See cases [RCV002252945] |
Chr5:37046198 [GRCh38]
Chr5:37046300 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3520A>G (p.Lys1174Glu) |
single nucleotide variant |
not provided [RCV003230098] |
Chr5:37000834 [GRCh38]
Chr5:37000936 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3122-1G>T |
single nucleotide variant |
not provided [RCV003231763] |
Chr5:36995621 [GRCh38]
Chr5:36995723 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.656A>G (p.His219Arg) |
single nucleotide variant |
not provided [RCV002275398] |
Chr5:36970921 [GRCh38]
Chr5:36971023 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002275557] |
Chr5:36976136 [GRCh38]
Chr5:36976238 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6027_6030del (p.Leu2009fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV002269134] |
Chr5:37038657..37038660 [GRCh38]
Chr5:37038759..37038762 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5639_5642del (p.Pro1880fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV002269142] |
Chr5:37024645..37024648 [GRCh38]
Chr5:37024747..37024750 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6726AGA[2] (p.Glu2244del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV002272977]|NIPBL-related disorder [RCV004741276]|not provided [RCV002275369] |
Chr5:37048637..37048639 [GRCh38]
Chr5:37048739..37048741 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1751_1752insATGGACTCTCAGGCTTCTATAACTCAGGATTCAGACTCCATAAAAAAGCCTGAAGAAATCAAACAATGTAATGATGCACCTGTTTCTGTTCTTCAGGAAGA (p.Asp584delinsGluTrpThrLeuArgLeuLeuTer) |
insertion |
Cornelia de Lange syndrome 1 [RCV002271360] |
Chr5:36984831..36984832 [GRCh38]
Chr5:36984933..36984934 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.-79-1564GC[6] |
microsatellite |
not provided [RCV002263374] |
Chr5:36952054..36952061 [GRCh38]
Chr5:36952156..36952163 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.1610C>A (p.Pro537Gln) |
single nucleotide variant |
not provided [RCV002285646] |
Chr5:36984790 [GRCh38]
Chr5:36984892 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5427G>A (p.Arg1809=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002283759] |
Chr5:37022149 [GRCh38]
Chr5:37022251 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4359G>C (p.Leu1453Phe) |
single nucleotide variant |
not provided [RCV002285935] |
Chr5:37008661 [GRCh38]
Chr5:37008763 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4699C>T (p.Gln1567Ter) |
single nucleotide variant |
See cases [RCV002287736] |
Chr5:37016093 [GRCh38]
Chr5:37016195 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3932G>A (p.Cys1311Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002269140] |
Chr5:37006433 [GRCh38]
Chr5:37006535 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.272_280del (p.Asp91_Pro93del) |
deletion |
Cornelia de Lange syndrome 1 [RCV002290145] |
Chr5:36958144..36958152 [GRCh38]
Chr5:36958246..36958254 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5467A>G (p.Asn1823Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002272714] |
Chr5:37022283 [GRCh38]
Chr5:37022385 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6955-2A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002269141] |
Chr5:37051777 [GRCh38]
Chr5:37051879 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3383A>G (p.His1128Arg) |
single nucleotide variant |
not provided [RCV002278900] |
Chr5:37000451 [GRCh38]
Chr5:37000553 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1501C>G (p.Pro501Ala) |
single nucleotide variant |
not provided [RCV002293119] |
Chr5:36984681 [GRCh38]
Chr5:36984783 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.731G>A (p.Ser244Asn) |
single nucleotide variant |
not provided [RCV002285926] |
Chr5:36970996 [GRCh38]
Chr5:36971098 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1469G>A (p.Arg490His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002289229] |
Chr5:36976376 [GRCh38]
Chr5:36976478 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7003C>T (p.Arg2335Trp) |
single nucleotide variant |
not specified [RCV003230844] |
Chr5:37051827 [GRCh38]
Chr5:37051929 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.302_311del (p.Ala101fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV002269143] |
Chr5:36958175..36958184 [GRCh38]
Chr5:36958277..36958286 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7834dup (p.Arg2612fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV002269144] |
Chr5:37060988..37060989 [GRCh38]
Chr5:37061090..37061091 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3480TCC[2] (p.Pro1163del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV002288989] |
Chr5:37000547..37000549 [GRCh38]
Chr5:37000649..37000651 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8368C>T (p.Gln2790Ter) |
single nucleotide variant |
not provided [RCV002263376] |
Chr5:37064845 [GRCh38]
Chr5:37064947 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1458dup (p.Glu487Ter) |
duplication |
Cornelia de Lange syndrome 1 [RCV002271359] |
Chr5:36976363..36976364 [GRCh38]
Chr5:36976465..36976466 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3211A>G (p.Met1071Val) |
single nucleotide variant |
not provided [RCV002263375] |
Chr5:36995711 [GRCh38]
Chr5:36995813 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6819G>T (p.Gly2273=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002293391] |
Chr5:37049166 [GRCh38]
Chr5:37049268 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6921G>C (p.Leu2307Phe) |
single nucleotide variant |
not provided [RCV003229972] |
Chr5:37049268 [GRCh38]
Chr5:37049370 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3213G>A (p.Met1071Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002272660] |
Chr5:36995713 [GRCh38]
Chr5:36995815 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4560+4A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002291313] |
Chr5:37010229 [GRCh38]
Chr5:37010331 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4021A>G (p.Lys1341Glu) |
single nucleotide variant |
not provided [RCV003235993] |
Chr5:37006522 [GRCh38]
Chr5:37006624 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003388629]|Inborn genetic diseases [RCV002368848]|NIPBL-related disorder [RCV003408249]|not provided [RCV004591936] |
Chr5:37044702 [GRCh38]
Chr5:37044804 [GRCh37]
Chr5:5p13.2 |
likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.713A>G (p.Asn238Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002367484] |
Chr5:36970978 [GRCh38]
Chr5:36971080 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4826C>A (p.Ser1609Tyr) |
single nucleotide variant |
not provided [RCV002281351] |
Chr5:37017068 [GRCh38]
Chr5:37017170 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603127]|Inborn genetic diseases [RCV002419546] |
Chr5:37064595 [GRCh38]
Chr5:37064697 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6534G>A (p.Met2178Ile) |
single nucleotide variant |
not provided [RCV003128971] |
Chr5:37046144 [GRCh38]
Chr5:37046246 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7967G>T (p.Gly2656Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003301179] |
Chr5:37063896 [GRCh38]
Chr5:37063998 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5017C>T (p.Arg1673Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003130921] |
Chr5:37020465 [GRCh38]
Chr5:37020567 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7062+7_7062+8del |
deletion |
Cornelia de Lange syndrome 1 [RCV002613795] |
Chr5:37051892..37051893 [GRCh38]
Chr5:37051994..37051995 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8111G>A (p.Ser2704Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002472000] |
Chr5:37064588 [GRCh38]
Chr5:37064690 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5773G>A (p.Ala1925Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002472120] |
Chr5:37026292 [GRCh38]
Chr5:37026394 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 |
copy number gain |
not provided [RCV002474514] |
Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:36874777-36958323)x1 |
copy number loss |
not provided [RCV002472611] |
Chr5:36874777..36958323 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| GRCh37/hg19 5p13.2(chr5:37044026-37374124)x3 |
copy number gain |
not provided [RCV002473603] |
Chr5:37044026..37374124 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7414A>G (p.Met2472Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002470446] |
Chr5:37058894 [GRCh38]
Chr5:37058996 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.215T>C (p.Val72Ala) |
single nucleotide variant |
not provided [RCV002467019] |
Chr5:36955622 [GRCh38]
Chr5:36955724 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3530A>G (p.Lys1177Arg) |
single nucleotide variant |
not provided [RCV003129252] |
Chr5:37000844 [GRCh38]
Chr5:37000946 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3542G>A (p.Arg1181Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002459499] |
Chr5:37000856 [GRCh38]
Chr5:37000958 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5814A>G (p.Ala1938=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005096846]|Inborn genetic diseases [RCV002353124] |
Chr5:37027364 [GRCh38]
Chr5:37027466 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.194T>G (p.Leu65Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003131805] |
Chr5:36955601 [GRCh38]
Chr5:36955703 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5182A>G (p.Arg1728Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003131806] |
Chr5:37020630 [GRCh38]
Chr5:37020732 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4333T>C (p.Tyr1445His) |
single nucleotide variant |
not provided [RCV002300839] |
Chr5:37008635 [GRCh38]
Chr5:37008737 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2076A>T (p.Arg692Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002304643] |
Chr5:36985256 [GRCh38]
Chr5:36985358 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6846T>C (p.Tyr2282=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003098401]|Inborn genetic diseases [RCV002362091] |
Chr5:37049193 [GRCh38]
Chr5:37049295 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6452G>A (p.Cys2151Tyr) |
single nucleotide variant |
not provided [RCV002305992] |
Chr5:37045551 [GRCh38]
Chr5:37045653 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.878C>T (p.Pro293Leu) |
single nucleotide variant |
not provided [RCV002308865] |
Chr5:36975785 [GRCh38]
Chr5:36975887 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5126A>C (p.Glu1709Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002301810] |
Chr5:37020574 [GRCh38]
Chr5:37020676 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.306G>T (p.Arg102Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003130717]|Inborn genetic diseases [RCV002444328] |
Chr5:36958179 [GRCh38]
Chr5:36958281 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6124A>G (p.Met2042Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002360290] |
Chr5:37044362 [GRCh38]
Chr5:37044464 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2228G>A (p.Arg743His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003098735]|Inborn genetic diseases [RCV002428169]|not provided [RCV003434489] |
Chr5:36985408 [GRCh38]
Chr5:36985510 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.1004A>G (p.Glu335Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002296332] |
Chr5:36975911 [GRCh38]
Chr5:36976013 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.869G>A (p.Gly290Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005032257]|Inborn genetic diseases [RCV002449712] |
Chr5:36975776 [GRCh38]
Chr5:36975878 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3049A>C (p.Ile1017Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603129]|Inborn genetic diseases [RCV002444062] |
Chr5:36986229 [GRCh38]
Chr5:36986331 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603122]|Inborn genetic diseases [RCV002456997] |
Chr5:37000497 [GRCh38]
Chr5:37000599 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6716C>A (p.Thr2239Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002375916] |
Chr5:37048628 [GRCh38]
Chr5:37048730 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.771C>T (p.Asp257=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603126]|Inborn genetic diseases [RCV002400672] |
Chr5:36971036 [GRCh38]
Chr5:36971138 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3810GAA[1] (p.Lys1271del) |
microsatellite |
Inborn genetic diseases [RCV002355260] |
Chr5:37003301..37003303 [GRCh38]
Chr5:37003403..37003405 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7451C>T (p.Pro2484Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002302070] |
Chr5:37058931 [GRCh38]
Chr5:37059033 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.927T>C (p.Asp309=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371466] |
Chr5:36975834 [GRCh38]
Chr5:36975936 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.891A>G (p.Leu297=) |
single nucleotide variant |
Inborn genetic diseases [RCV002376106] |
Chr5:36975798 [GRCh38]
Chr5:36975900 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3295G>A (p.Ala1099Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005032239]|Inborn genetic diseases [RCV002326177] |
Chr5:36995795 [GRCh38]
Chr5:36995897 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3937dup (p.Thr1313fs) |
duplication |
Inborn genetic diseases [RCV002357569] |
Chr5:37006437..37006438 [GRCh38]
Chr5:37006539..37006540 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7357A>G (p.Ile2453Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603125]|Inborn genetic diseases [RCV002380273] |
Chr5:37057279 [GRCh38]
Chr5:37057381 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3475T>G (p.Tyr1159Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002457318] |
Chr5:37000543 [GRCh38]
Chr5:37000645 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.933A>C (p.Pro311=) |
single nucleotide variant |
Inborn genetic diseases [RCV002371650] |
Chr5:36975840 [GRCh38]
Chr5:36975942 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2481G>A (p.Arg827=) |
single nucleotide variant |
Inborn genetic diseases [RCV002430797] |
Chr5:36985661 [GRCh38]
Chr5:36985763 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3906G>A (p.Glu1302=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357485] |
Chr5:37006407 [GRCh38]
Chr5:37006509 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4255A>G (p.Ile1419Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002299707] |
Chr5:37008023 [GRCh38]
Chr5:37008125 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7371C>G (p.Leu2457=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005032253]|Inborn genetic diseases [RCV002380365] |
Chr5:37057293 [GRCh38]
Chr5:37057395 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3856-3C>T |
single nucleotide variant |
not provided [RCV002308864] |
Chr5:37006354 [GRCh38]
Chr5:37006456 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003097260]|Inborn genetic diseases [RCV002410090]|NIPBL-related disorder [RCV004741289] |
Chr5:36984987 [GRCh38]
Chr5:36985089 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.225T>C (p.Asp75=) |
single nucleotide variant |
Inborn genetic diseases [RCV002443717] |
Chr5:36955632 [GRCh38]
Chr5:36955734 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.459-3del |
deletion |
Inborn genetic diseases [RCV002342291] |
Chr5:36962117 [GRCh38]
Chr5:36962219 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.604C>G (p.Gln202Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005032248]|Inborn genetic diseases [RCV002358250] |
Chr5:36962268 [GRCh38]
Chr5:36962370 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5192T>C (p.Ile1731Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002338518] |
Chr5:37020640 [GRCh38]
Chr5:37020742 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7861-1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002412237] |
Chr5:37063789 [GRCh38]
Chr5:37063891 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5137A>G (p.Thr1713Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003096628]|Inborn genetic diseases [RCV002344239]|NIPBL-related disorder [RCV003943369] |
Chr5:37020585 [GRCh38]
Chr5:37020687 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3775A>C (p.Thr1259Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002302902] |
Chr5:37003267 [GRCh38]
Chr5:37003369 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5266A>G (p.Ile1756Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002344363] |
Chr5:37020815 [GRCh38]
Chr5:37020917 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2367C>G (p.Asp789Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002457735] |
Chr5:36985547 [GRCh38]
Chr5:36985649 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1449A>G (p.Glu483=) |
single nucleotide variant |
Inborn genetic diseases [RCV002394506] |
Chr5:36976356 [GRCh38]
Chr5:36976458 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8340T>C (p.Ser2780=) |
single nucleotide variant |
Inborn genetic diseases [RCV002412584] |
Chr5:37064817 [GRCh38]
Chr5:37064919 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2956G>A (p.Val986Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002441922] |
Chr5:36986136 [GRCh38]
Chr5:36986238 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1701T>G (p.Pro567=) |
single nucleotide variant |
Inborn genetic diseases [RCV002414703] |
Chr5:36984881 [GRCh38]
Chr5:36984983 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.524C>T (p.Pro175Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003096668]|Inborn genetic diseases [RCV002340938] |
Chr5:36962188 [GRCh38]
Chr5:36962290 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.483C>T (p.Ser161=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003096490]|Inborn genetic diseases [RCV002338119]|NIPBL-related disorder [RCV003961006] |
Chr5:36962147 [GRCh38]
Chr5:36962249 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.6807T>C (p.Asp2269=) |
single nucleotide variant |
Inborn genetic diseases [RCV002369516] |
Chr5:37049154 [GRCh38]
Chr5:37049256 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8086G>A (p.Glu2696Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002302033] |
Chr5:37064563 [GRCh38]
Chr5:37064665 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7776A>G (p.Gln2592=) |
single nucleotide variant |
Inborn genetic diseases [RCV002409782] |
Chr5:37060934 [GRCh38]
Chr5:37061036 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2511G>A (p.Gln837=) |
single nucleotide variant |
Inborn genetic diseases [RCV002432940] |
Chr5:36985691 [GRCh38]
Chr5:36985793 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7765C>T (p.His2589Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005058516]|Inborn genetic diseases [RCV002409736] |
Chr5:37060923 [GRCh38]
Chr5:37061025 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4529A>T (p.Asp1510Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002299681] |
Chr5:37010194 [GRCh38]
Chr5:37010296 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4321G>A (p.Val1441Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002332045] |
Chr5:37008623 [GRCh38]
Chr5:37008725 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2426C>T (p.Ser809Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002861339] |
Chr5:36985606 [GRCh38]
Chr5:36985708 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.616G>A (p.Val206Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002730721] |
Chr5:36970881 [GRCh38]
Chr5:36970983 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1753_1755del (p.Ile585del) |
deletion |
Cornelia de Lange syndrome 1 [RCV003074743]|Inborn genetic diseases [RCV004071697]|NIPBL-related disorder [RCV003973647] |
Chr5:36984932..36984934 [GRCh38]
Chr5:36985034..36985036 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.1889TGG[1] (p.Val631del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV002904355] |
Chr5:36985069..36985071 [GRCh38]
Chr5:36985171..36985173 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4560+19G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002903627] |
Chr5:37010244 [GRCh38]
Chr5:37010346 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.132A>G (p.Ala44=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002614975] |
Chr5:36955539 [GRCh38]
Chr5:36955641 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1783A>T (p.Asn595Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002994219] |
Chr5:36984963 [GRCh38]
Chr5:36985065 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3672T>A (p.Asp1224Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002972289] |
Chr5:37002669 [GRCh38]
Chr5:37002771 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1757T>A (p.Val586Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002862349] |
Chr5:36984937 [GRCh38]
Chr5:36985039 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4576G>C (p.Val1526Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002730757] |
Chr5:37014698 [GRCh38]
Chr5:37014800 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8368C>G (p.Gln2790Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003014334] |
Chr5:37064845 [GRCh38]
Chr5:37064947 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002775710]|not provided [RCV003434507] |
Chr5:37000521 [GRCh38]
Chr5:37000623 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1560T>G (p.Gly520=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003032922] |
Chr5:36984740 [GRCh38]
Chr5:36984842 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.923G>A (p.Arg308Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603131]|Inborn genetic diseases [RCV002687416] |
Chr5:36975830 [GRCh38]
Chr5:36975932 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002842641] |
Chr5:37006458 [GRCh38]
Chr5:37006560 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.256G>A (p.Asp86Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002777412] |
Chr5:36958129 [GRCh38]
Chr5:36958231 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3502+20G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002947377] |
Chr5:37000590 [GRCh38]
Chr5:37000692 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2356A>G (p.Thr786Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003098972] |
Chr5:36985536 [GRCh38]
Chr5:36985638 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3664+8C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003075876] |
Chr5:37001086 [GRCh38]
Chr5:37001188 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5466T>G (p.Asp1822Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002820124] |
Chr5:37022282 [GRCh38]
Chr5:37022384 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.184G>C (p.Val62Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005036566]|Inborn genetic diseases [RCV002841068] |
Chr5:36955591 [GRCh38]
Chr5:36955693 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.708T>G (p.Ala236=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002947328] |
Chr5:36970973 [GRCh38]
Chr5:36971075 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7169C>T (p.Ala2390Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002815839] |
Chr5:37052472 [GRCh38]
Chr5:37052574 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3966C>G (p.Asn1322Lys) |
single nucleotide variant |
not provided [RCV002511244] |
Chr5:37006467 [GRCh38]
Chr5:37006569 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-79-1599TG[15] |
microsatellite |
not provided [RCV002512266] |
Chr5:36952019..36952024 [GRCh38]
Chr5:36952121..36952126 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.4146A>G (p.Val1382=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002908727] |
Chr5:37007381 [GRCh38]
Chr5:37007483 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.295G>A (p.Val99Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002908961] |
Chr5:36958168 [GRCh38]
Chr5:36958270 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5A>G (p.Asn2Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002904736] |
Chr5:36953701 [GRCh38]
Chr5:36953803 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7488A>T (p.Glu2496Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002818926] |
Chr5:37058968 [GRCh38]
Chr5:37059070 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002616180] |
Chr5:37026321 [GRCh38]
Chr5:37026423 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5226-3C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002842008] |
Chr5:37020772 [GRCh38]
Chr5:37020874 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.450C>A (p.Ser150Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002817543] |
Chr5:36961575 [GRCh38]
Chr5:36961677 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3664+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002862359] |
Chr5:37001079 [GRCh38]
Chr5:37001181 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002993666] |
Chr5:37051787 [GRCh38]
Chr5:37051889 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6703A>G (p.Lys2235Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003012273] |
Chr5:37048615 [GRCh38]
Chr5:37048717 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4320+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002838309] |
Chr5:37008093 [GRCh38]
Chr5:37008195 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2076A>C (p.Arg692Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002859850] |
Chr5:36985256 [GRCh38]
Chr5:36985358 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002615593]|not specified [RCV003404100] |
Chr5:37063796 [GRCh38]
Chr5:37063898 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1595G>T (p.Gly532Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603146]|Inborn genetic diseases [RCV002729920]|NIPBL-related disorder [RCV003954030] |
Chr5:36984775 [GRCh38]
Chr5:36984877 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2344C>T (p.His782Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002732740] |
Chr5:36985524 [GRCh38]
Chr5:36985626 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.938A>G (p.Asp313Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003095624] |
Chr5:36975845 [GRCh38]
Chr5:36975947 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002615675] |
Chr5:37049271 [GRCh38]
Chr5:37049373 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7487A>T (p.Glu2496Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002818924] |
Chr5:37058967 [GRCh38]
Chr5:37059069 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2509C>T (p.Gln837Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003016019] |
Chr5:36985689 [GRCh38]
Chr5:36985791 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002819169] |
Chr5:37003278 [GRCh38]
Chr5:37003380 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.210C>A (p.Asn70Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002843271] |
Chr5:36955617 [GRCh38]
Chr5:36955719 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.904C>G (p.Leu302Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002996539] |
Chr5:36975811 [GRCh38]
Chr5:36975913 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.824C>T (p.Pro275Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002616754] |
Chr5:36971997 [GRCh38]
Chr5:36972099 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6249+18C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003034517] |
Chr5:37044505 [GRCh38]
Chr5:37044607 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5574+5G>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002908031] |
Chr5:37022395 [GRCh38]
Chr5:37022497 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.3742A>G (p.Ile1248Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003103107]|not provided [RCV002461645] |
Chr5:37002739 [GRCh38]
Chr5:37002841 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7685+19T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002775736] |
Chr5:37059184 [GRCh38]
Chr5:37059286 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1136G>T (p.Gly379Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002974925]|Inborn genetic diseases [RCV003274103] |
Chr5:36976043 [GRCh38]
Chr5:36976145 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6763+20T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002696085] |
Chr5:37048695 [GRCh38]
Chr5:37048797 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.7264-19T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002621021] |
Chr5:37057167 [GRCh38]
Chr5:37057269 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4643+10A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003022103] |
Chr5:37014775 [GRCh38]
Chr5:37014877 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8049+7C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003081800] |
Chr5:37063985 [GRCh38]
Chr5:37064087 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1678G>T (p.Asp560Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003775559]|not provided [RCV002510169] |
Chr5:36984858 [GRCh38]
Chr5:36984960 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2058C>T (p.Asn686=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003081155] |
Chr5:36985238 [GRCh38]
Chr5:36985340 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4088-8del |
deletion |
Cornelia de Lange syndrome 1 [RCV002847492] |
Chr5:37007315 [GRCh38]
Chr5:37007417 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2525G>T (p.Arg842Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002762240] |
Chr5:36985705 [GRCh38]
Chr5:36985807 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002781537] |
Chr5:37049166 [GRCh38]
Chr5:37049268 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2310G>A (p.Lys770=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003078615] |
Chr5:36985490 [GRCh38]
Chr5:36985592 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7097A>C (p.Gln2366Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003003219] |
Chr5:37052400 [GRCh38]
Chr5:37052502 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002953739] |
Chr5:37019352 [GRCh38]
Chr5:37019454 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.834A>T (p.Val278=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002913122] |
Chr5:36972007 [GRCh38]
Chr5:36972109 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003080159] |
Chr5:37049172 [GRCh38]
Chr5:37049274 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6840G>A (p.Gln2280=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002622827] |
Chr5:37049187 [GRCh38]
Chr5:37049289 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2298G>T (p.Arg766Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003039266] |
Chr5:36985478 [GRCh38]
Chr5:36985580 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7264-7T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002885946] |
Chr5:37057179 [GRCh38]
Chr5:37057281 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6955-9dup |
duplication |
Cornelia de Lange syndrome 1 [RCV002694794]|Orofacial cleft 1 [RCV003320896] |
Chr5:37051759..37051760 [GRCh38]
Chr5:37051861..37051862 [GRCh37]
Chr5:5p13.2 |
benign|uncertain significance |
| NM_133433.4(NIPBL):c.874A>T (p.Arg292Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002797019] |
Chr5:36975781 [GRCh38]
Chr5:36975883 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1235G>A (p.Arg412His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003100375]|Inborn genetic diseases [RCV004636658] |
Chr5:36976142 [GRCh38]
Chr5:36976244 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2704_2707del (p.Lys902fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV002866712] |
Chr5:36985881..36985884 [GRCh38]
Chr5:36985983..36985986 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2495G>A (p.Arg832Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002659658]|Inborn genetic diseases [RCV002659657] |
Chr5:36985675 [GRCh38]
Chr5:36985777 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3769-8T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002638996] |
Chr5:37003253 [GRCh38]
Chr5:37003355 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6249+5G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003000187] |
Chr5:37044492 [GRCh38]
Chr5:37044594 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6954+7A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003020026] |
Chr5:37049308 [GRCh38]
Chr5:37049410 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3856-18A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002909147] |
Chr5:37006339 [GRCh38]
Chr5:37006441 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5427+16G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002638592] |
Chr5:37022165 [GRCh38]
Chr5:37022267 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.611-3C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002821017] |
Chr5:36970873 [GRCh38]
Chr5:36970975 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4088-9T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002781492] |
Chr5:37007314 [GRCh38]
Chr5:37007416 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2771A>G (p.Asn924Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002761840] |
Chr5:36985951 [GRCh38]
Chr5:36986053 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6202A>C (p.Thr2068Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003020098] |
Chr5:37044440 [GRCh38]
Chr5:37044542 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.458+17del |
deletion |
Cornelia de Lange syndrome 1 [RCV002760617] |
Chr5:36961600 [GRCh38]
Chr5:36961702 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1669A>G (p.Ile557Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002927005] |
Chr5:36984849 [GRCh38]
Chr5:36984951 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1202C>T (p.Ser401Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002800027] |
Chr5:36976109 [GRCh38]
Chr5:36976211 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2042C>G (p.Thr681Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002706833] |
Chr5:36985222 [GRCh38]
Chr5:36985324 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6954+13T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002999468] |
Chr5:37049314 [GRCh38]
Chr5:37049416 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3121+7A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002796110] |
Chr5:36986308 [GRCh38]
Chr5:36986410 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.65-20T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002913823] |
Chr5:36955452 [GRCh38]
Chr5:36955554 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1797A>G (p.Thr599=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002637302] |
Chr5:36984977 [GRCh38]
Chr5:36985079 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1708A>G (p.Ile570Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002885552] |
Chr5:36984888 [GRCh38]
Chr5:36984990 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5575-5T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005059348]|Inborn genetic diseases [RCV002887309] |
Chr5:37024580 [GRCh38]
Chr5:37024682 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003081130] |
Chr5:37063801 [GRCh38]
Chr5:37063903 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4421+15_4421+16del |
deletion |
Cornelia de Lange syndrome 1 [RCV002639100] |
Chr5:37008737..37008738 [GRCh38]
Chr5:37008839..37008840 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1920A>G (p.Leu640=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002949194]|NIPBL-related disorder [RCV003906385] |
Chr5:36985100 [GRCh38]
Chr5:36985202 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1678G>C (p.Asp560His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002695428]|not provided [RCV004774718] |
Chr5:36984858 [GRCh38]
Chr5:36984960 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4335T>A (p.Tyr1445Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003054857] |
Chr5:37008637 [GRCh38]
Chr5:37008739 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5336G>A (p.Arg1779Gln) |
single nucleotide variant |
not provided [RCV003036943] |
Chr5:37022058 [GRCh38]
Chr5:37022160 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7553A>T (p.Asp2518Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005099209]|Inborn genetic diseases [RCV002759910] |
Chr5:37059033 [GRCh38]
Chr5:37059135 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2980G>T (p.Asp994Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002663168]|Inborn genetic diseases [RCV002639754] |
Chr5:36986160 [GRCh38]
Chr5:36986262 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4560A>G (p.Lys1520=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002976299] |
Chr5:37010225 [GRCh38]
Chr5:37010327 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2901C>A (p.Gly967=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002591254] |
Chr5:36986081 [GRCh38]
Chr5:36986183 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6574G>T (p.Ala2192Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002909285] |
Chr5:37046184 [GRCh38]
Chr5:37046286 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8258G>A (p.Arg2753His) |
single nucleotide variant |
Inborn genetic diseases [RCV002827636] |
Chr5:37064735 [GRCh38]
Chr5:37064837 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002957791] |
Chr5:37063843 [GRCh38]
Chr5:37063945 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2227C>T (p.Arg743Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003022851] |
Chr5:36985407 [GRCh38]
Chr5:36985509 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1262C>T (p.Ser421Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005034832]|Inborn genetic diseases [RCV002644650] |
Chr5:36976169 [GRCh38]
Chr5:36976271 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2375G>C (p.Arg792Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005036631]|Inborn genetic diseases [RCV002768604] |
Chr5:36985555 [GRCh38]
Chr5:36985657 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.385T>C (p.Ser129Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002895176] |
Chr5:36961510 [GRCh38]
Chr5:36961612 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4921-12T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002597249] |
Chr5:37019299 [GRCh38]
Chr5:37019401 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.6218T>A (p.Leu2073Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002890889] |
Chr5:37044456 [GRCh38]
Chr5:37044558 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5808+6_5808+8del |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003084984] |
Chr5:37026330..37026332 [GRCh38]
Chr5:37026432..37026434 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2374C>T (p.Arg792Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002917776] |
Chr5:36985554 [GRCh38]
Chr5:36985656 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003005090] |
Chr5:37010189 [GRCh38]
Chr5:37010291 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4777-6A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002891051] |
Chr5:37017013 [GRCh38]
Chr5:37017115 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4421+20G>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002623670] |
Chr5:37008743 [GRCh38]
Chr5:37008845 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1584G>A (p.Thr528=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002573055] |
Chr5:36984764 [GRCh38]
Chr5:36984866 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3503-12T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003057591] |
Chr5:37000805 [GRCh38]
Chr5:37000907 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3305-18A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002917509] |
Chr5:37000355 [GRCh38]
Chr5:37000457 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.667G>C (p.Val223Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002595151] |
Chr5:36970932 [GRCh38]
Chr5:36971034 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002928676] |
Chr5:37010114 [GRCh38]
Chr5:37010216 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.571C>T (p.His191Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003023134] |
Chr5:36962235 [GRCh38]
Chr5:36962337 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6589+13T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002828417] |
Chr5:37046212 [GRCh38]
Chr5:37046314 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.807T>G (p.Ser269=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003023965] |
Chr5:36971980 [GRCh38]
Chr5:36972082 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3485del (p.Pro1162fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV002852430] |
Chr5:37000552 [GRCh38]
Chr5:37000654 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1835A>G (p.Glu612Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002740585]|Inborn genetic diseases [RCV004067792] |
Chr5:36985015 [GRCh38]
Chr5:36985117 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.7454G>C (p.Ser2485Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002574105] |
Chr5:37058934 [GRCh38]
Chr5:37059036 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2775G>C (p.Lys925Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002572770] |
Chr5:36985955 [GRCh38]
Chr5:36986057 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.835T>A (p.Cys279Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002788417] |
Chr5:36972008 [GRCh38]
Chr5:36972110 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.230+18T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002597107] |
Chr5:36955655 [GRCh38]
Chr5:36955757 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4847T>C (p.Val1616Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002791335] |
Chr5:37017089 [GRCh38]
Chr5:37017191 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7586A>G (p.Asn2529Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002914915] |
Chr5:37059066 [GRCh38]
Chr5:37059168 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.868+17A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003058725] |
Chr5:36972058 [GRCh38]
Chr5:36972160 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1279G>C (p.Ala427Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002764164] |
Chr5:36976186 [GRCh38]
Chr5:36976288 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6548A>G (p.His2183Arg) |
single nucleotide variant |
not provided [RCV002508493] |
Chr5:37046158 [GRCh38]
Chr5:37046260 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4733G>A (p.Trp1578Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003059443] |
Chr5:37016127 [GRCh38]
Chr5:37016229 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3296C>T (p.Ala1099Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002596717] |
Chr5:36995796 [GRCh38]
Chr5:36995898 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7617_7618del (p.Ser2540fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003057009] |
Chr5:37059094..37059095 [GRCh38]
Chr5:37059196..37059197 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2092T>C (p.Ser698Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005060922]|Inborn genetic diseases [RCV002765067] |
Chr5:36985272 [GRCh38]
Chr5:36985374 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7063-11A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002595500] |
Chr5:37052355 [GRCh38]
Chr5:37052457 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002928505]|NIPBL-related disorder [RCV003943605]|not provided [RCV003434526] |
Chr5:36970942 [GRCh38]
Chr5:36971044 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5087_5088del (p.Lys1696fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003043183] |
Chr5:37020532..37020533 [GRCh38]
Chr5:37020634..37020635 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002984463]|not specified [RCV003988075] |
Chr5:36985978 [GRCh38]
Chr5:36986080 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.784T>C (p.Ser262Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003040293] |
Chr5:36971957 [GRCh38]
Chr5:36972059 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5689_5691del (p.Asn1897del) |
deletion |
Cornelia de Lange syndrome 1 [RCV002651899]|not provided [RCV004823124] |
Chr5:37024699..37024701 [GRCh38]
Chr5:37024801..37024803 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.5464G>A (p.Asp1822Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002651898] |
Chr5:37022280 [GRCh38]
Chr5:37022382 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5428-20T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003090171] |
Chr5:37022224 [GRCh38]
Chr5:37022326 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5709+4G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003092050] |
Chr5:37024723 [GRCh38]
Chr5:37024825 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2698T>A (p.Ser900Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002633060] |
Chr5:36985878 [GRCh38]
Chr5:36985980 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.403A>G (p.Ser135Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002716321] |
Chr5:36961528 [GRCh38]
Chr5:36961630 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5762A>T (p.Asn1921Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005036559]|Inborn genetic diseases [RCV002813597] |
Chr5:37026281 [GRCh38]
Chr5:37026383 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003087566] |
Chr5:37048509 [GRCh38]
Chr5:37048611 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7462A>G (p.Asn2488Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003065200]|Inborn genetic diseases [RCV003250727]|not provided [RCV003458162] |
Chr5:37058942 [GRCh38]
Chr5:37059044 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.134G>A (p.Arg45Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002602162] |
Chr5:36955541 [GRCh38]
Chr5:36955643 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003088393] |
Chr5:37038681 [GRCh38]
Chr5:37038783 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003030513] |
Chr5:37064724 [GRCh38]
Chr5:37064826 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1333G>A (p.Ala445Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002747360] |
Chr5:36976240 [GRCh38]
Chr5:36976342 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002806637] |
Chr5:37064760 [GRCh38]
Chr5:37064862 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.169A>G (p.Arg57Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002922090] |
Chr5:36955576 [GRCh38]
Chr5:36955678 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2871C>T (p.Val957=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002898912] |
Chr5:36986051 [GRCh38]
Chr5:36986153 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002770658] |
Chr5:37045549 [GRCh38]
Chr5:37045651 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002629431] |
Chr5:37060946 [GRCh38]
Chr5:37061048 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.971A>T (p.Lys324Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002628995]|Inborn genetic diseases [RCV004961143] |
Chr5:36975878 [GRCh38]
Chr5:36975980 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.8392G>A (p.Ala2798Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002938210] |
Chr5:37064869 [GRCh38]
Chr5:37064971 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4181T>C (p.Val1394Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003010387] |
Chr5:37007416 [GRCh38]
Chr5:37007518 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003026723] |
Chr5:37045483 [GRCh38]
Chr5:37045585 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5245G>A (p.Asp1749Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002936013] |
Chr5:37020794 [GRCh38]
Chr5:37020896 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1626C>T (p.Ser542=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002628152] |
Chr5:36984806 [GRCh38]
Chr5:36984908 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7838G>A (p.Ser2613Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002748685] |
Chr5:37060996 [GRCh38]
Chr5:37061098 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1016G>A (p.Ser339Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002900940] |
Chr5:36975923 [GRCh38]
Chr5:36976025 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7861-9T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002632012] |
Chr5:37063781 [GRCh38]
Chr5:37063883 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6250-13C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002649879] |
Chr5:37044623 [GRCh38]
Chr5:37044725 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002922096] |
Chr5:37022274 [GRCh38]
Chr5:37022376 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3124A>G (p.Ser1042Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002598010] |
Chr5:36995624 [GRCh38]
Chr5:36995726 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.99T>C (p.Pro33=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003029135] |
Chr5:36955506 [GRCh38]
Chr5:36955608 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8050-5T>A |
single nucleotide variant |
Inborn genetic diseases [RCV002717731] |
Chr5:37064522 [GRCh38]
Chr5:37064624 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5710-13C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002966413] |
Chr5:37026216 [GRCh38]
Chr5:37026318 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.790A>G (p.Met264Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002938557] |
Chr5:36971963 [GRCh38]
Chr5:36972065 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2194A>G (p.Arg732Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002939541] |
Chr5:36985374 [GRCh38]
Chr5:36985476 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.458+19G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002647193] |
Chr5:36961602 [GRCh38]
Chr5:36961704 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2472A>C (p.Ser824=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002720677] |
Chr5:36985652 [GRCh38]
Chr5:36985754 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.772-12C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002627438] |
Chr5:36971933 [GRCh38]
Chr5:36972035 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4183A>G (p.Ser1395Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003010388] |
Chr5:37007418 [GRCh38]
Chr5:37007520 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1278A>G (p.Thr426=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003062837] |
Chr5:36976185 [GRCh38]
Chr5:36976287 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1148G>A (p.Ser383Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002812678] |
Chr5:36976055 [GRCh38]
Chr5:36976157 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002933537] |
Chr5:37003326 [GRCh38]
Chr5:37003428 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3856-23_3856-13del |
deletion |
Cornelia de Lange syndrome 1 [RCV003050922] |
Chr5:37006333..37006343 [GRCh38]
Chr5:37006435..37006445 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6590-12C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003067628] |
Chr5:37048490 [GRCh38]
Chr5:37048592 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.546C>T (p.Ser182=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003052366] |
Chr5:36962210 [GRCh38]
Chr5:36962312 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2436G>C (p.Glu812Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005036535]|Inborn genetic diseases [RCV002722493] |
Chr5:36985616 [GRCh38]
Chr5:36985718 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2087C>T (p.Thr696Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002585173] |
Chr5:36985267 [GRCh38]
Chr5:36985369 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5118T>C (p.His1706=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002607401] |
Chr5:37020566 [GRCh38]
Chr5:37020668 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4920+5T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002609569]|not specified [RCV004690307] |
Chr5:37017167 [GRCh38]
Chr5:37017269 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003071727] |
Chr5:37064793 [GRCh38]
Chr5:37064895 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4534A>G (p.Asn1512Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002944816] |
Chr5:37010199 [GRCh38]
Chr5:37010301 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.250G>A (p.Gly84Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003072975] |
Chr5:36958123 [GRCh38]
Chr5:36958225 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002606821] |
Chr5:37017072 [GRCh38]
Chr5:37017174 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4240G>T (p.Val1414Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002722716] |
Chr5:37008008 [GRCh38]
Chr5:37008110 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7422G>C (p.Lys2474Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003070785]|Inborn genetic diseases [RCV004654108] |
Chr5:37058902 [GRCh38]
Chr5:37059004 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2331T>C (p.Pro777=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003072226] |
Chr5:36985511 [GRCh38]
Chr5:36985613 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8294C>T (p.Thr2765Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003072318] |
Chr5:37064771 [GRCh38]
Chr5:37064873 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.836G>A (p.Cys279Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003073529] |
Chr5:36972009 [GRCh38]
Chr5:36972111 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1349C>T (p.Thr450Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002603099] |
Chr5:36976256 [GRCh38]
Chr5:36976358 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2754C>T (p.Asp918=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003071245] |
Chr5:36985934 [GRCh38]
Chr5:36986036 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002654223] |
Chr5:37020856 [GRCh38]
Chr5:37020958 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5574+7T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002607635] |
Chr5:37022397 [GRCh38]
Chr5:37022499 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5525G>A (p.Arg1842Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002633920] |
Chr5:37022341 [GRCh38]
Chr5:37022443 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1886G>A (p.Arg629Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002725206]|NIPBL-related disorder [RCV004741441] |
Chr5:36985066 [GRCh38]
Chr5:36985168 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.230+19A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002606247] |
Chr5:36955656 [GRCh38]
Chr5:36955758 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.348T>C (p.Tyr116=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002589278]|not provided [RCV004546736] |
Chr5:36958221 [GRCh38]
Chr5:36958323 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7263+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002611776] |
Chr5:37052567 [GRCh38]
Chr5:37052669 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7123C>A (p.Leu2375Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002945063] |
Chr5:37052426 [GRCh38]
Chr5:37052528 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV002612380]|NIPBL-related disorder [RCV003936611] |
Chr5:37052458 [GRCh38]
Chr5:37052560 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7793G>A (p.Arg2598Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497974]|NIPBL-related disorder [RCV004725667]|not provided [RCV003154440] |
Chr5:37060951 [GRCh38]
Chr5:37061053 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8105A>C (p.Asn2702Thr) |
single nucleotide variant |
not provided [RCV003327801] |
Chr5:37064582 [GRCh38]
Chr5:37064684 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5795dup (p.Asn1932fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV004797398] |
Chr5:37026311..37026312 [GRCh38]
Chr5:37026413..37026414 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3643G>C (p.Asp1215His) |
single nucleotide variant |
not specified [RCV004699839] |
Chr5:37001057 [GRCh38]
Chr5:37001159 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6765G>A (p.Trp2255Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004789702] |
Chr5:37049112 [GRCh38]
Chr5:37049214 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7841dup (p.Val2615fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV004795491] |
Chr5:37060998..37060999 [GRCh38]
Chr5:37061100..37061101 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1510A>G (p.Lys504Glu) |
single nucleotide variant |
not provided [RCV004777163] |
Chr5:36984690 [GRCh38]
Chr5:36984792 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4455G>A (p.Met1485Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003228716] |
Chr5:37010120 [GRCh38]
Chr5:37010222 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4472C>T (p.Thr1491Ile) |
single nucleotide variant |
not provided [RCV003225480] |
Chr5:37010137 [GRCh38]
Chr5:37010239 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3359G>A (p.Arg1120His) |
single nucleotide variant |
Inborn genetic diseases [RCV003210714] |
Chr5:37000427 [GRCh38]
Chr5:37000529 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.551dup (p.Gly185fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV003222592] |
Chr5:36962214..36962215 [GRCh38]
Chr5:36962316..36962317 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1434G>A (p.Glu478=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003133027] |
Chr5:36976341 [GRCh38]
Chr5:36976443 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.2278C>T (p.His760Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003133028] |
Chr5:36985458 [GRCh38]
Chr5:36985560 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2548A>G (p.Ser850Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005101222]|Inborn genetic diseases [RCV003188965] |
Chr5:36985728 [GRCh38]
Chr5:36985830 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.7168G>T (p.Ala2390Ser) |
single nucleotide variant |
not provided [RCV003223180] |
Chr5:37052471 [GRCh38]
Chr5:37052573 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4546G>A (p.Asp1516Asn) |
single nucleotide variant |
not provided [RCV003225291] |
Chr5:37010211 [GRCh38]
Chr5:37010313 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6344-1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003135424] |
Chr5:37045442 [GRCh38]
Chr5:37045544 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6222G>A (p.Met2074Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003142300] |
Chr5:37044460 [GRCh38]
Chr5:37044562 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2824C>A (p.Pro942Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003133030] |
Chr5:36986004 [GRCh38]
Chr5:36986106 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.409C>T (p.Pro137Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003208115] |
Chr5:36961534 [GRCh38]
Chr5:36961636 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5143C>T (p.Gln1715Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003140272] |
Chr5:37020591 [GRCh38]
Chr5:37020693 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2214A>T (p.Gln738His) |
single nucleotide variant |
not provided [RCV003229386] |
Chr5:36985394 [GRCh38]
Chr5:36985496 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3392G>C (p.Ser1131Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003133026] |
Chr5:37000460 [GRCh38]
Chr5:37000562 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4421+205dup |
duplication |
not provided [RCV003227114] |
Chr5:37008927..37008928 [GRCh38]
Chr5:37009029..37009030 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.359-1085A>G |
single nucleotide variant |
not provided [RCV003322154] |
Chr5:36960399 [GRCh38]
Chr5:36960501 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4240G>C (p.Val1414Leu) |
single nucleotide variant |
not provided [RCV003318854] |
Chr5:37008008 [GRCh38]
Chr5:37008110 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2650G>C (p.Gly884Arg) |
single nucleotide variant |
not provided [RCV003322951] |
Chr5:36985830 [GRCh38]
Chr5:36985932 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3482del (p.Pro1161fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003330287] |
Chr5:37000549 [GRCh38]
Chr5:37000651 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5225+2_5225+5del |
deletion |
not provided [RCV003327152] |
Chr5:37020672..37020675 [GRCh38]
Chr5:37020774..37020777 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7373_7374del (p.Ser2458fs) |
deletion |
not provided [RCV003329801] |
Chr5:37057295..37057296 [GRCh38]
Chr5:37057397..37057398 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4940A>G (p.Glu1647Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003330260] |
Chr5:37019330 [GRCh38]
Chr5:37019432 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8198G>A (p.Ser2733Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003356882] |
Chr5:37064675 [GRCh38]
Chr5:37064777 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7198C>T (p.Arg2400Cys) |
single nucleotide variant |
not provided [RCV003332445] |
Chr5:37052501 [GRCh38]
Chr5:37052603 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4366A>G (p.Ile1456Val) |
single nucleotide variant |
not provided [RCV003332434] |
Chr5:37008668 [GRCh38]
Chr5:37008770 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5772A>C (p.Glu1924Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005104067]|Inborn genetic diseases [RCV003368397]|not provided [RCV003883983] |
Chr5:37026291 [GRCh38]
Chr5:37026393 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4570delinsTA (p.Asp1524Ter) |
indel |
Cornelia de Lange syndrome 1 [RCV003333614] |
Chr5:37014692 [GRCh38]
Chr5:37014794 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1555G>T (p.Gly519Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003335891] |
Chr5:36984735 [GRCh38]
Chr5:36984837 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4560+2_4560+5del |
deletion |
Inborn genetic diseases [RCV003364515] |
Chr5:37010224..37010227 [GRCh38]
Chr5:37010326..37010329 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603999] |
Chr5:37049139 [GRCh38]
Chr5:37049241 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5803G>A (p.Asp1935Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604141] |
Chr5:37026322 [GRCh38]
Chr5:37026424 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.194T>C (p.Leu65Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604203] |
Chr5:36955601 [GRCh38]
Chr5:36955703 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8243G>A (p.Trp2748Ter) |
single nucleotide variant |
not provided [RCV003457433] |
Chr5:37064720 [GRCh38]
Chr5:37064822 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1604C>T (p.Ser535Leu) |
single nucleotide variant |
not provided [RCV003457431] |
Chr5:36984784 [GRCh38]
Chr5:36984886 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3449G>A (p.Ser1150Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003874563] |
Chr5:37000517 [GRCh38]
Chr5:37000619 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5005C>A (p.Leu1669Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003873950]|NIPBL-related disorder [RCV003939250] |
Chr5:37019395 [GRCh38]
Chr5:37019497 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4644-16A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003875765] |
Chr5:37016022 [GRCh38]
Chr5:37016124 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603530] |
Chr5:37008637 [GRCh38]
Chr5:37008739 [GRCh37]
Chr5:5p13.2 |
likely benign |
| GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 |
copy number gain |
See cases [RCV003482191] |
Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3286A>G (p.Ser1096Gly) |
single nucleotide variant |
not provided [RCV003429610] |
Chr5:36995786 [GRCh38]
Chr5:36995888 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.832G>A (p.Val278Ile) |
single nucleotide variant |
NIPBL-related disorder [RCV003397529] |
Chr5:36972005 [GRCh38]
Chr5:36972107 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5710-3T>C |
single nucleotide variant |
not specified [RCV003479842] |
Chr5:37026226 [GRCh38]
Chr5:37026328 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5489C>T (p.Ala1830Val) |
single nucleotide variant |
not specified [RCV003479571] |
Chr5:37022305 [GRCh38]
Chr5:37022407 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7220G>A (p.Arg2407Gln) |
single nucleotide variant |
NIPBL-related disorder [RCV003406174] |
Chr5:37052523 [GRCh38]
Chr5:37052625 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1530C>A (p.Tyr510Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003447711] |
Chr5:36984710 [GRCh38]
Chr5:36984812 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.-79-1599TG[26] |
microsatellite |
not provided [RCV003427448] |
Chr5:36952018..36952019 [GRCh38]
Chr5:36952120..36952121 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3780C>A (p.Asp1260Glu) |
single nucleotide variant |
not provided [RCV003427450] |
Chr5:37003272 [GRCh38]
Chr5:37003374 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4852_4855delinsT (p.Ala1618_Arg1619delinsTrp) |
indel |
not provided [RCV003441295] |
Chr5:37017094..37017097 [GRCh38]
Chr5:37017196..37017199 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3405T>C (p.His1135=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603426] |
Chr5:37000473 [GRCh38]
Chr5:37000575 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.-79-1563_-79-1540del |
deletion |
not provided [RCV003429605] |
Chr5:36952051..36952074 [GRCh38]
Chr5:36952153..36952176 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6163G>A (p.Val2055Ile) |
single nucleotide variant |
not provided [RCV003429615] |
Chr5:37044401 [GRCh38]
Chr5:37044503 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1729C>T (p.Pro577Ser) |
single nucleotide variant |
not provided [RCV004776958] |
Chr5:36984909 [GRCh38]
Chr5:36985011 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-79-1599TG[17] |
microsatellite |
not provided [RCV003429602] |
Chr5:36952019..36952020 [GRCh38]
Chr5:36952121..36952122 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.-79-1569_-79-1562del |
deletion |
not provided [RCV003429604] |
Chr5:36952048..36952055 [GRCh38]
Chr5:36952150..36952157 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.2390G>A (p.Arg797Gln) |
single nucleotide variant |
not provided [RCV003429608] |
Chr5:36985570 [GRCh38]
Chr5:36985672 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3877G>A (p.Glu1293Lys) |
single nucleotide variant |
not provided [RCV003429611] |
Chr5:37006378 [GRCh38]
Chr5:37006480 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4714A>T (p.Thr1572Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004818983] |
Chr5:37016108 [GRCh38]
Chr5:37016210 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6089A>G (p.Tyr2030Cys) |
single nucleotide variant |
NIPBL-related disorder [RCV003397853] |
Chr5:37038719 [GRCh38]
Chr5:37038821 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2290A>C (p.Asn764His) |
single nucleotide variant |
NIPBL-related disorder [RCV003397249] |
Chr5:36985470 [GRCh38]
Chr5:36985572 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1168A>G (p.Ile390Val) |
single nucleotide variant |
NIPBL-related disorder [RCV003399890] |
Chr5:36976075 [GRCh38]
Chr5:36976177 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4070G>A (p.Arg1357Lys) |
single nucleotide variant |
NIPBL-related disorder [RCV003408528] |
Chr5:37006571 [GRCh38]
Chr5:37006673 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7117A>G (p.Thr2373Ala) |
single nucleotide variant |
NIPBL-related disorder [RCV003429074] |
Chr5:37052420 [GRCh38]
Chr5:37052522 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.73C>T (p.Gln25Ter) |
single nucleotide variant |
NIPBL-related disorder [RCV003404183] |
Chr5:36955480 [GRCh38]
Chr5:36955582 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2648C>T (p.Ser883Phe) |
single nucleotide variant |
not provided [RCV003429609] |
Chr5:36985828 [GRCh38]
Chr5:36985930 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4536T>C (p.Asn1512=) |
single nucleotide variant |
not provided [RCV003429612] |
Chr5:37010201 [GRCh38]
Chr5:37010303 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4602T>A (p.Ala1534=) |
single nucleotide variant |
not provided [RCV003429613] |
Chr5:37014724 [GRCh38]
Chr5:37014826 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5429T>C (p.Leu1810Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497999]|NIPBL-related disorder [RCV003412330] |
Chr5:37022245 [GRCh38]
Chr5:37022347 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003388852] |
Chr5:37046143..37046144 [GRCh38]
Chr5:37046245..37046246 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5329-8_5329-5del |
deletion |
NIPBL-related disorder [RCV003397366] |
Chr5:37022040..37022043 [GRCh38]
Chr5:37022142..37022145 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.444A>C (p.Ser148=) |
single nucleotide variant |
not provided [RCV003429606] |
Chr5:36961569 [GRCh38]
Chr5:36961671 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6748C>T (p.Gln2250Ter) |
single nucleotide variant |
NIPBL-related disorder [RCV003416767] |
Chr5:37048660 [GRCh38]
Chr5:37048762 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3479C>T (p.Ser1160Phe) |
single nucleotide variant |
NIPBL-related disorder [RCV003397703] |
Chr5:37000547 [GRCh38]
Chr5:37000649 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2264C>A (p.Pro755His) |
single nucleotide variant |
NIPBL-related disorder [RCV003400356] |
Chr5:36985444 [GRCh38]
Chr5:36985546 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1948G>A (p.Glu650Lys) |
single nucleotide variant |
NIPBL-related disorder [RCV003392911] |
Chr5:36985128 [GRCh38]
Chr5:36985230 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5085A>C (p.Gln1695His) |
single nucleotide variant |
NIPBL-related disorder [RCV003414377] |
Chr5:37020533 [GRCh38]
Chr5:37020635 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.265G>A (p.Glu89Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004961279]|NIPBL-related disorder [RCV003414427] |
Chr5:36958138 [GRCh38]
Chr5:36958240 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3055G>C (p.Asp1019His) |
single nucleotide variant |
NIPBL-related disorder [RCV003416946] |
Chr5:36986235 [GRCh38]
Chr5:36986337 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8049+30G>A |
single nucleotide variant |
not provided [RCV003457432] |
Chr5:37064008 [GRCh38]
Chr5:37064110 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1222C>T (p.Gln408Ter) |
single nucleotide variant |
NIPBL-related disorder [RCV003410575] |
Chr5:36976129 [GRCh38]
Chr5:36976231 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7861-1G>T |
single nucleotide variant |
Neurodevelopmental disorder [RCV003389158] |
Chr5:37063789 [GRCh38]
Chr5:37063891 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2510A>C (p.Gln837Pro) |
single nucleotide variant |
NIPBL-related disorder [RCV003402349] |
Chr5:36985690 [GRCh38]
Chr5:36985792 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-79-1599TG[14] |
microsatellite |
not provided [RCV003429603] |
Chr5:36952019..36952026 [GRCh38]
Chr5:36952121..36952128 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.768T>C (p.Ser256=) |
single nucleotide variant |
not provided [RCV003429607] |
Chr5:36971033 [GRCh38]
Chr5:36971135 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4602T>C (p.Ala1534=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005062940]|not provided [RCV003429614] |
Chr5:37014724 [GRCh38]
Chr5:37014826 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2599G>A (p.Glu867Lys) |
single nucleotide variant |
NIPBL-related disorder [RCV003399768] |
Chr5:36985779 [GRCh38]
Chr5:36985881 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2075G>C (p.Arg692Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603162]|NIPBL-related disorder [RCV003410824] |
Chr5:36985255 [GRCh38]
Chr5:36985357 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.-415del |
deletion |
not provided [RCV003427447] |
Chr5:36876843 [GRCh38]
Chr5:36876945 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1332T>C (p.Ala444=) |
single nucleotide variant |
not provided [RCV003427449] |
Chr5:36976239 [GRCh38]
Chr5:36976341 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7023A>C (p.Gln2341His) |
single nucleotide variant |
not provided [RCV003441253] |
Chr5:37051847 [GRCh38]
Chr5:37051949 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5796C>T (p.Asn1932=) |
single nucleotide variant |
not specified [RCV003405086] |
Chr5:37026315 [GRCh38]
Chr5:37026417 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4:c.1480_2479del |
deletion |
Cornelia de Lange syndrome 1 [RCV003405206] |
|
likely pathogenic |
| NM_133433.4(NIPBL):c.458+4A>G |
single nucleotide variant |
NIPBL-related disorder [RCV003427919] |
Chr5:36961587 [GRCh38]
Chr5:36961689 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3937A>C (p.Thr1313Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003459826] |
Chr5:37006438 [GRCh38]
Chr5:37006540 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6923_6927del (p.Thr2308fs) |
deletion |
NIPBL-related disorder [RCV003400175] |
Chr5:37049269..37049273 [GRCh38]
Chr5:37049371..37049375 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6854A>G (p.Gln2285Arg) |
single nucleotide variant |
NIPBL-related disorder [RCV003400373] |
Chr5:37049201 [GRCh38]
Chr5:37049303 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.314A>G (p.Asn105Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003389109] |
Chr5:36958187 [GRCh38]
Chr5:36958289 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4508A>G (p.His1503Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003389112] |
Chr5:37010173 [GRCh38]
Chr5:37010275 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2656C>T (p.Gln886Ter) |
single nucleotide variant |
NIPBL-related disorder [RCV003403070] |
Chr5:36985836 [GRCh38]
Chr5:36985938 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.163G>A (p.Ala55Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602554] |
Chr5:36955570 [GRCh38]
Chr5:36955672 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1032G>A (p.Met344Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602827] |
Chr5:36975939 [GRCh38]
Chr5:36976041 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5230A>G (p.Asn1744Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003849005] |
Chr5:37020779 [GRCh38]
Chr5:37020881 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602911] |
Chr5:37049235 [GRCh38]
Chr5:37049337 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1745A>G (p.Gln582Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602801] |
Chr5:36984925 [GRCh38]
Chr5:36985027 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5010+18T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603940] |
Chr5:37019418 [GRCh38]
Chr5:37019520 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603986] |
Chr5:37022143 [GRCh38]
Chr5:37022245 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6977T>G (p.Met2326Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003605068] |
Chr5:37051801 [GRCh38]
Chr5:37051903 [GRCh37]
Chr5:5p13.2 |
pathogenic|uncertain significance |
| NM_133433.4(NIPBL):c.3533A>G (p.Gln1178Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602659]|not provided [RCV003992785] |
Chr5:37000847 [GRCh38]
Chr5:37000949 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602974] |
Chr5:37014739 [GRCh38]
Chr5:37014841 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8311A>G (p.Ile2771Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604075]|not provided [RCV003886634] |
Chr5:37064788 [GRCh38]
Chr5:37064890 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1190C>T (p.Pro397Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603003] |
Chr5:36976097 [GRCh38]
Chr5:36976199 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4087+15_4087+20del |
deletion |
Cornelia de Lange syndrome 1 [RCV003602847] |
Chr5:37006601..37006606 [GRCh38]
Chr5:37006703..37006708 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4087+9del |
deletion |
Cornelia de Lange syndrome 1 [RCV003602694] |
Chr5:37006597 [GRCh38]
Chr5:37006699 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.193C>G (p.Leu65Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604520] |
Chr5:36955600 [GRCh38]
Chr5:36955702 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2404A>G (p.Lys802Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602855] |
Chr5:36985584 [GRCh38]
Chr5:36985686 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7549G>A (p.Asp2517Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603016] |
Chr5:37059029 [GRCh38]
Chr5:37059131 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7612A>C (p.Asn2538His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603209] |
Chr5:37059092 [GRCh38]
Chr5:37059194 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2392G>C (p.Ala798Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603210] |
Chr5:36985572 [GRCh38]
Chr5:36985674 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603211] |
Chr5:37058926 [GRCh38]
Chr5:37059028 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT |
insertion |
Cornelia de Lange syndrome 1 [RCV003602729] |
Chr5:37016181..37016182 [GRCh38]
Chr5:37016283..37016284 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1495+11C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602904] |
Chr5:36976413 [GRCh38]
Chr5:36976515 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.611-14_611-12del |
deletion |
Cornelia de Lange syndrome 1 [RCV003603222] |
Chr5:36970860..36970862 [GRCh38]
Chr5:36970962..36970964 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.103A>G (p.Thr35Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003879669] |
Chr5:36955510 [GRCh38]
Chr5:36955612 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1169T>C (p.Ile390Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602888] |
Chr5:36976076 [GRCh38]
Chr5:36976178 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5809-18T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003605014] |
Chr5:37027341 [GRCh38]
Chr5:37027443 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6249+17C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602919] |
Chr5:37044504 [GRCh38]
Chr5:37044606 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.460C>A (p.Arg154=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602923] |
Chr5:36962124 [GRCh38]
Chr5:36962226 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1026G>A (p.Ala342=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604970]|NIPBL-related disorder [RCV003939143] |
Chr5:36975933 [GRCh38]
Chr5:36976035 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8050-8T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003605065] |
Chr5:37064519 [GRCh38]
Chr5:37064621 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603252] |
Chr5:37044349 [GRCh38]
Chr5:37044451 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2187T>A (p.Gly729=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602795] |
Chr5:36985367 [GRCh38]
Chr5:36985469 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2709A>T (p.Ser903=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602654] |
Chr5:36985889 [GRCh38]
Chr5:36985991 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.1816C>T (p.Pro606Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602650] |
Chr5:36984996 [GRCh38]
Chr5:36985098 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1686C>T (p.Asp562=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603026] |
Chr5:36984866 [GRCh38]
Chr5:36984968 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8291A>G (p.Asp2764Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603029] |
Chr5:37064768 [GRCh38]
Chr5:37064870 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4321-6A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603823] |
Chr5:37008617 [GRCh38]
Chr5:37008719 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8101A>G (p.Met2701Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038504]|Developmental and epileptic encephalopathy, 54 [RCV003758193] |
Chr5:37064578 [GRCh38]
Chr5:37064680 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.6764-10G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603947] |
Chr5:37049101 [GRCh38]
Chr5:37049203 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2025A>G (p.Glu675=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603967] |
Chr5:36985205 [GRCh38]
Chr5:36985307 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3305-17T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604773] |
Chr5:37000356 [GRCh38]
Chr5:37000458 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604015] |
Chr5:36995755 [GRCh38]
Chr5:36995857 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7118C>T (p.Thr2373Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604068]|Inborn genetic diseases [RCV004371630] |
Chr5:37052421 [GRCh38]
Chr5:37052523 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.2205T>C (p.Thr735=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604971] |
Chr5:36985385 [GRCh38]
Chr5:36985487 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5972-14G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604894] |
Chr5:37038588 [GRCh38]
Chr5:37038690 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3575-19A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604222] |
Chr5:37000970 [GRCh38]
Chr5:37001072 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2746A>G (p.Lys916Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003486164] |
Chr5:36985926 [GRCh38]
Chr5:36986028 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1254A>G (p.Gln418=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604277] |
Chr5:36976161 [GRCh38]
Chr5:36976263 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604278] |
Chr5:37063936 [GRCh38]
Chr5:37064038 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1425T>C (p.Ala475=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604344] |
Chr5:36976332 [GRCh38]
Chr5:36976434 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7499C>T (p.Pro2500Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603606] |
Chr5:37058979 [GRCh38]
Chr5:37059081 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7244A>G (p.Asn2415Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603652] |
Chr5:37052547 [GRCh38]
Chr5:37052649 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2597T>C (p.Leu866Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604598] |
Chr5:36985777 [GRCh38]
Chr5:36985879 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4087+18C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602612] |
Chr5:37006606 [GRCh38]
Chr5:37006708 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4777-16C>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604370] |
Chr5:37017003 [GRCh38]
Chr5:37017105 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3459T>G (p.Asp1153Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602624] |
Chr5:37000527 [GRCh38]
Chr5:37000629 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1075dup (p.Thr359fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV003604393] |
Chr5:36975981..36975982 [GRCh38]
Chr5:36976083..36976084 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5045G>A (p.Arg1682Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602644] |
Chr5:37020493 [GRCh38]
Chr5:37020595 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2317A>G (p.Thr773Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602645] |
Chr5:36985497 [GRCh38]
Chr5:36985599 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6864G>T (p.Glu2288Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604624] |
Chr5:37049211 [GRCh38]
Chr5:37049313 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.444A>G (p.Ser148=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604831] |
Chr5:36961569 [GRCh38]
Chr5:36961671 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2975T>C (p.Val992Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604911] |
Chr5:36986155 [GRCh38]
Chr5:36986257 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.868+16A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604956] |
Chr5:36972057 [GRCh38]
Chr5:36972159 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8296_8301del (p.Ile2766_Lys2767del) |
deletion |
Cornelia de Lange syndrome 1 [RCV003605069] |
Chr5:37064773..37064778 [GRCh38]
Chr5:37064875..37064880 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4225A>G (p.Thr1409Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603622] |
Chr5:37007460 [GRCh38]
Chr5:37007562 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2643A>G (p.Pro881=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603824]|NIPBL-related disorder [RCV003966654] |
Chr5:36985823 [GRCh38]
Chr5:36985925 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5226-11T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603852] |
Chr5:37020764 [GRCh38]
Chr5:37020866 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603924] |
Chr5:37064610 [GRCh38]
Chr5:37064712 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2129G>A (p.Arg710Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603998] |
Chr5:36985309 [GRCh38]
Chr5:36985411 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6954+18C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602557] |
Chr5:37049319 [GRCh38]
Chr5:37049421 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4709T>G (p.Leu1570Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003602596] |
Chr5:37016103 [GRCh38]
Chr5:37016205 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4100G>C (p.Ser1367Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604902] |
Chr5:37007335 [GRCh38]
Chr5:37007437 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.879A>G (p.Pro293=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603842] |
Chr5:36975786 [GRCh38]
Chr5:36975888 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603864] |
Chr5:37044415 [GRCh38]
Chr5:37044517 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6764-6T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603866] |
Chr5:37049105 [GRCh38]
Chr5:37049207 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604551] |
Chr5:37014709 [GRCh38]
Chr5:37014811 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5752A>G (p.Thr1918Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603795] |
Chr5:37026271 [GRCh38]
Chr5:37026373 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3574+12_3574+16del |
deletion |
Cornelia de Lange syndrome 1 [RCV003603955] |
Chr5:37000897..37000901 [GRCh38]
Chr5:37000999..37001003 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7008C>A (p.Asn2336Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604153] |
Chr5:37051832 [GRCh38]
Chr5:37051934 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604175] |
Chr5:37063885 [GRCh38]
Chr5:37063987 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5327A>G (p.Gln1776Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003883359] |
Chr5:37020876 [GRCh38]
Chr5:37020978 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3656C>T (p.Thr1219Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604192] |
Chr5:37001070 [GRCh38]
Chr5:37001172 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5427+20C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604663] |
Chr5:37022169 [GRCh38]
Chr5:37022271 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3080C>T (p.Ser1027Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604069] |
Chr5:36986260 [GRCh38]
Chr5:36986362 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5044C>G (p.Arg1682Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604249] |
Chr5:37020492 [GRCh38]
Chr5:37020594 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1495G>C (p.Asp499His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604721] |
Chr5:36976402 [GRCh38]
Chr5:36976504 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.904C>T (p.Leu302=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604091] |
Chr5:36975811 [GRCh38]
Chr5:36975913 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003877136] |
Chr5:37046126 [GRCh38]
Chr5:37046228 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2432C>A (p.Ser811Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604258] |
Chr5:36985612 [GRCh38]
Chr5:36985714 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.869-15G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604749] |
Chr5:36975761 [GRCh38]
Chr5:36975863 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3575-3_3575-2insG |
insertion |
Cornelia de Lange syndrome 1 [RCV003604308] |
Chr5:37000986..37000987 [GRCh38]
Chr5:37001088..37001089 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3575-2A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604309] |
Chr5:37000987 [GRCh38]
Chr5:37001089 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.5011-19C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603574] |
Chr5:37020440 [GRCh38]
Chr5:37020542 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2457TAA[1] (p.Asn820del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003603604] |
Chr5:36985636..36985638 [GRCh38]
Chr5:36985738..36985740 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003604406] |
Chr5:37020485 [GRCh38]
Chr5:37020587 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4921-4A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603658] |
Chr5:37019307 [GRCh38]
Chr5:37019409 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_133433.4(NIPBL):c.5027A>G (p.Tyr1676Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603670] |
Chr5:37020475 [GRCh38]
Chr5:37020577 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4726C>A (p.Pro1576Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603709] |
Chr5:37016120 [GRCh38]
Chr5:37016222 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3101A>G (p.Lys1034Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003879051] |
Chr5:36986281 [GRCh38]
Chr5:36986383 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3769C>T (p.Leu1257Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498171] |
Chr5:37003261 [GRCh38]
Chr5:37003363 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2323A>G (p.Lys775Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498179] |
Chr5:36985503 [GRCh38]
Chr5:36985605 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.614C>T (p.Ser205Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497372] |
Chr5:36970879 [GRCh38]
Chr5:36970981 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4088-6T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497634] |
Chr5:37007317 [GRCh38]
Chr5:37007419 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5808+20G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497695] |
Chr5:37026347 [GRCh38]
Chr5:37026449 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3401C>A (p.Ser1134Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603294] |
Chr5:37000469 [GRCh38]
Chr5:37000571 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3010G>A (p.Val1004Met) |
single nucleotide variant |
not specified [RCV004800124] |
Chr5:36986190 [GRCh38]
Chr5:36986292 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6108+13C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603468] |
Chr5:37038751 [GRCh38]
Chr5:37038853 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.611-8A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603557]|not specified [RCV004587552] |
Chr5:36970868 [GRCh38]
Chr5:36970970 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003852845] |
Chr5:37016044 [GRCh38]
Chr5:37016146 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5574+11C>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498356] |
Chr5:37022401 [GRCh38]
Chr5:37022503 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4172G>C (p.Cys1391Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003851731] |
Chr5:37007407 [GRCh38]
Chr5:37007509 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1909G>A (p.Glu637Lys) |
single nucleotide variant |
not provided [RCV005063412] |
Chr5:36985089 [GRCh38]
Chr5:36985191 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5328+20C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497414] |
Chr5:37020897 [GRCh38]
Chr5:37020999 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3705dup (p.His1236fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV003499031] |
Chr5:37002698..37002699 [GRCh38]
Chr5:37002800..37002801 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4539AGA[2] (p.Glu1515del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003497477] |
Chr5:37010204..37010206 [GRCh38]
Chr5:37010306..37010308 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8049+1G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497700] |
Chr5:37063979 [GRCh38]
Chr5:37064081 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2682T>C (p.Arg894=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498609] |
Chr5:36985862 [GRCh38]
Chr5:36985964 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4996G>A (p.Asp1666Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499034] |
Chr5:37019386 [GRCh38]
Chr5:37019488 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6017_6018dup (p.Thr2007Ter) |
duplication |
Cornelia de Lange syndrome 1 [RCV003498647] |
Chr5:37038645..37038646 [GRCh38]
Chr5:37038747..37038748 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2514T>G (p.Ser838=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498717] |
Chr5:36985694 [GRCh38]
Chr5:36985796 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8049+6G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498738] |
Chr5:37063984 [GRCh38]
Chr5:37064086 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1225G>A (p.Asp409Asn) |
single nucleotide variant |
not provided [RCV004812144] |
Chr5:36976132 [GRCh38]
Chr5:36976234 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6860T>C (p.Leu2287Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498863] |
Chr5:37049207 [GRCh38]
Chr5:37049309 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499572] |
Chr5:37038654 [GRCh38]
Chr5:37038756 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603343] |
Chr5:37049265 [GRCh38]
Chr5:37049367 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4421+18_4421+19del |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003499803] |
Chr5:37008739..37008740 [GRCh38]
Chr5:37008841..37008842 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3122-17T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003838110] |
Chr5:36995605 [GRCh38]
Chr5:36995707 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1001A>C (p.Asp334Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603329] |
Chr5:36975908 [GRCh38]
Chr5:36976010 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1893G>A (p.Val631=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497821]|not specified [RCV004690441] |
Chr5:36985073 [GRCh38]
Chr5:36985175 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6955-20A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498055] |
Chr5:37051759 [GRCh38]
Chr5:37051861 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.868+4C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003817373] |
Chr5:36972045 [GRCh38]
Chr5:36972147 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6763+13A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003814778] |
Chr5:37048688 [GRCh38]
Chr5:37048790 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.837C>G (p.Cys279Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498823] |
Chr5:36972010 [GRCh38]
Chr5:36972112 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6250-11A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499226] |
Chr5:37044625 [GRCh38]
Chr5:37044727 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3664+19A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499196] |
Chr5:37001097 [GRCh38]
Chr5:37001199 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.893A>T (p.Gln298Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003837675] |
Chr5:36975800 [GRCh38]
Chr5:36975902 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003849476] |
Chr5:37060895 [GRCh38]
Chr5:37060997 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.586A>T (p.Thr196Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003834059] |
Chr5:36962250 [GRCh38]
Chr5:36962352 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.889C>G (p.Leu297Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003840234] |
Chr5:36975796 [GRCh38]
Chr5:36975898 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3649G>A (p.Asp1217Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498755] |
Chr5:37001063 [GRCh38]
Chr5:37001165 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4770_4771del (p.Arg1590fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003498945] |
Chr5:37016164..37016165 [GRCh38]
Chr5:37016266..37016267 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.771+20T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498968] |
Chr5:36971056 [GRCh38]
Chr5:36971158 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8329G>T (p.Ala2777Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603543] |
Chr5:37064806 [GRCh38]
Chr5:37064908 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003837414] |
Chr5:37020500 [GRCh38]
Chr5:37020602 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1927A>G (p.Lys643Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499672] |
Chr5:36985107 [GRCh38]
Chr5:36985209 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499714] |
Chr5:37044457 [GRCh38]
Chr5:37044559 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.838T>G (p.Ser280Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499764] |
Chr5:36972011 [GRCh38]
Chr5:36972113 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1268A>G (p.Gln423Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499508] |
Chr5:36976175 [GRCh38]
Chr5:36976277 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.19del (p.His7fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003497602] |
Chr5:36953712 [GRCh38]
Chr5:36953814 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3937A>G (p.Thr1313Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499703] |
Chr5:37006438 [GRCh38]
Chr5:37006540 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8050-15del |
deletion |
Cornelia de Lange syndrome 1 [RCV003499636] |
Chr5:37064507 [GRCh38]
Chr5:37064609 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.868+4C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499871] |
Chr5:36972045 [GRCh38]
Chr5:36972147 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.6430C>T (p.Leu2144Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499937] |
Chr5:37045529 [GRCh38]
Chr5:37045631 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003855116] |
Chr5:37052422 [GRCh38]
Chr5:37052524 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1336A>T (p.Lys446Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498168] |
Chr5:36976243 [GRCh38]
Chr5:36976345 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5011-16T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498188] |
Chr5:37020443 [GRCh38]
Chr5:37020545 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.842C>G (p.Pro281Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498271] |
Chr5:36972015 [GRCh38]
Chr5:36972117 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4226_4227del (p.Thr1409fs) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003498311] |
Chr5:37007458..37007459 [GRCh38]
Chr5:37007560..37007561 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4239+7T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498390] |
Chr5:37007481 [GRCh38]
Chr5:37007583 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2480G>A (p.Arg827Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498578]|not specified [RCV004690446] |
Chr5:36985660 [GRCh38]
Chr5:36985762 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4607G>A (p.Arg1536Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498887] |
Chr5:37014729 [GRCh38]
Chr5:37014831 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.533del (p.Tyr178fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003498896] |
Chr5:36962197 [GRCh38]
Chr5:36962299 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5427+24_5427+27del |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003499139] |
Chr5:37022167..37022170 [GRCh38]
Chr5:37022269..37022272 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7481AAG[2] (p.Glu2496del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003497658] |
Chr5:37058960..37058962 [GRCh38]
Chr5:37059062..37059064 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6332A>G (p.Asn2111Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497607] |
Chr5:37044718 [GRCh38]
Chr5:37044820 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003817256] |
Chr5:37048629 [GRCh38]
Chr5:37048731 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6098C>G (p.Thr2033Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498283] |
Chr5:37038728 [GRCh38]
Chr5:37038830 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7135G>A (p.Val2379Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003837371] |
Chr5:37052438 [GRCh38]
Chr5:37052540 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499515] |
Chr5:37052467 [GRCh38]
Chr5:37052569 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6763+18T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499914] |
Chr5:37048693 [GRCh38]
Chr5:37048795 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497425] |
Chr5:37008058 [GRCh38]
Chr5:37008160 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.1709T>C (p.Ile570Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603354] |
Chr5:36984889 [GRCh38]
Chr5:36984991 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5972-16_5972-15del |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003497485] |
Chr5:37038583..37038584 [GRCh38]
Chr5:37038685..37038686 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.760C>T (p.Leu254=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497673] |
Chr5:36971025 [GRCh38]
Chr5:36971127 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7748A>G (p.Lys2583Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603284] |
Chr5:37060906 [GRCh38]
Chr5:37061008 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603436] |
Chr5:37058953 [GRCh38]
Chr5:37059055 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3646dup (p.Met1216fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV003497428] |
Chr5:37001059..37001060 [GRCh38]
Chr5:37001161..37001162 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7631T>A (p.Leu2544Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497671] |
Chr5:37059111 [GRCh38]
Chr5:37059213 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497698] |
Chr5:37000851 [GRCh38]
Chr5:37000953 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7141G>C (p.Gly2381Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003497755] |
Chr5:37052444 [GRCh38]
Chr5:37052546 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6302A>G (p.Gln2101Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498370] |
Chr5:37044688 [GRCh38]
Chr5:37044790 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5972-1G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498447] |
Chr5:37038601 [GRCh38]
Chr5:37038703 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.45G>C (p.Gly15=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003813903] |
Chr5:36953741 [GRCh38]
Chr5:36953843 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5225+2T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003498551] |
Chr5:37020675 [GRCh38]
Chr5:37020777 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3350A>G (p.Tyr1117Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499915] |
Chr5:37000418 [GRCh38]
Chr5:37000520 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3768+15T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499069] |
Chr5:37002780 [GRCh38]
Chr5:37002882 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6826A>C (p.Ser2276Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499257] |
Chr5:37049173 [GRCh38]
Chr5:37049275 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5011-8C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499167] |
Chr5:37020451 [GRCh38]
Chr5:37020553 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.868+8T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003603500] |
Chr5:36972049 [GRCh38]
Chr5:36972151 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.453C>T (p.Pro151=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499527] |
Chr5:36961578 [GRCh38]
Chr5:36961680 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2224A>C (p.Ser742Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499576]|Inborn genetic diseases [RCV004369185]|NIPBL-related disorder [RCV004738796] |
Chr5:36985404 [GRCh38]
Chr5:36985506 [GRCh37]
Chr5:5p13.2 |
benign|likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.7848del (p.Lys2616fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003499579] |
Chr5:37061003 [GRCh38]
Chr5:37061105 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2680C>T (p.Arg894Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499715] |
Chr5:36985860 [GRCh38]
Chr5:36985962 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7854T>G (p.Tyr2618Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003499743] |
Chr5:37061012 [GRCh38]
Chr5:37061114 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003841502] |
Chr5:37045498 [GRCh38]
Chr5:37045600 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.-315del |
deletion |
Cornelia de Lange syndrome 1 [RCV003840826] |
Chr5:36876937 [GRCh38]
Chr5:36877039 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1302G>T (p.Val434=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003858667] |
Chr5:36976209 [GRCh38]
Chr5:36976311 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003863945]|NIPBL-related disorder [RCV003893530] |
Chr5:37019376 [GRCh38]
Chr5:37019478 [GRCh37]
Chr5:5p13.2 |
benign|likely benign |
| NM_133433.4(NIPBL):c.843T>C (p.Pro281=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003871940] |
Chr5:36972016 [GRCh38]
Chr5:36972118 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003857650] |
Chr5:37006374 [GRCh38]
Chr5:37006476 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3121+19A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003862570] |
Chr5:36986320 [GRCh38]
Chr5:36986422 [GRCh37]
Chr5:5p13.2 |
likely benign |
| GRCh37/hg19 5p13.2(chr5:37027159-37673405)x3 |
copy number gain |
not specified [RCV003986600] |
Chr5:37027159..37673405 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.297C>T (p.Val99=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003848535] |
Chr5:36958170 [GRCh38]
Chr5:36958272 [GRCh37]
Chr5:5p13.2 |
likely benign |
| GRCh37/hg19 5p13.2(chr5:36799352-37123083)x3 |
copy number gain |
not specified [RCV003986558] |
Chr5:36799352..37123083 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3664+11C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003868712]|not specified [RCV004587574] |
Chr5:37001089 [GRCh38]
Chr5:37001191 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003869051] |
Chr5:37052452 [GRCh38]
Chr5:37052554 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7758T>G (p.Val2586=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003841519] |
Chr5:37060916 [GRCh38]
Chr5:37061018 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5113C>T (p.His1705Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003820642] |
Chr5:37020561 [GRCh38]
Chr5:37020663 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3284A>C (p.Asp1095Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003865990] |
Chr5:36995784 [GRCh38]
Chr5:36995886 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4560+19G>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003843297] |
Chr5:37010244 [GRCh38]
Chr5:37010346 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4603A>G (p.Met1535Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003822782] |
Chr5:37014725 [GRCh38]
Chr5:37014827 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7895AAG[4] (p.Glu2636del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV003842555] |
Chr5:37063823..37063825 [GRCh38]
Chr5:37063925..37063927 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3547dup (p.Ala1183fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV003994877] |
Chr5:37000860..37000861 [GRCh38]
Chr5:37000962..37000963 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4586_4589del (p.Asn1529fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV004515782] |
Chr5:37014708..37014711 [GRCh38]
Chr5:37014810..37014813 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6589+8dup |
duplication |
not specified [RCV003988249] |
Chr5:37046206..37046207 [GRCh38]
Chr5:37046308..37046309 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2852G>A (p.Gly951Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004493072] |
Chr5:36986032 [GRCh38]
Chr5:36986134 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3358C>A (p.Arg1120Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004493073] |
Chr5:37000426 [GRCh38]
Chr5:37000528 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3434G>A (p.Arg1145His) |
single nucleotide variant |
Inborn genetic diseases [RCV004493074] |
Chr5:37000502 [GRCh38]
Chr5:37000604 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5239A>G (p.Thr1747Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004493076] |
Chr5:37020788 [GRCh38]
Chr5:37020890 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6976A>G (p.Met2326Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004493077] |
Chr5:37051800 [GRCh38]
Chr5:37051902 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7276A>T (p.Thr2426Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004493078] |
Chr5:37057198 [GRCh38]
Chr5:37057300 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7592C>T (p.Ala2531Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004493080] |
Chr5:37059072 [GRCh38]
Chr5:37059174 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7792C>T (p.Arg2598Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004493081] |
Chr5:37060950 [GRCh38]
Chr5:37061052 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7814A>G (p.Lys2605Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004493082]|not provided [RCV004723595] |
Chr5:37060972 [GRCh38]
Chr5:37061074 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7375G>C (p.Val2459Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003989452] |
Chr5:37057297 [GRCh38]
Chr5:37057399 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.823C>T (p.Pro275Ser) |
single nucleotide variant |
not provided [RCV004555128] |
Chr5:36971996 [GRCh38]
Chr5:36972098 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1793A>C (p.Glu598Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004493069] |
Chr5:36984973 [GRCh38]
Chr5:36985075 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1952T>C (p.Leu651Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004493070] |
Chr5:36985132 [GRCh38]
Chr5:36985234 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7686-8C>A |
single nucleotide variant |
NIPBL-related disorder [RCV003959475] |
Chr5:37060836 [GRCh38]
Chr5:37060938 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7882C>T (p.Leu2628=) |
single nucleotide variant |
NIPBL-related disorder [RCV003936959] |
Chr5:37063811 [GRCh38]
Chr5:37063913 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005040613]|NIPBL-related disorder [RCV003912217] |
Chr5:37000408 [GRCh38]
Chr5:37000510 [GRCh37]
Chr5:5p13.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.5329-17del |
deletion |
Cornelia de Lange syndrome 1 [RCV005103184]|not specified [RCV003994878] |
Chr5:37022034 [GRCh38]
Chr5:37022136 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.732T>C (p.Ser244=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005102933]|NIPBL-related disorder [RCV003961781] |
Chr5:36970997 [GRCh38]
Chr5:36971099 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5241T>G (p.Thr1747=) |
single nucleotide variant |
NIPBL-related disorder [RCV003896696] |
Chr5:37020790 [GRCh38]
Chr5:37020892 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7745G>A (p.Arg2582Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038631]|NIPBL-related disorder [RCV003937285] |
Chr5:37060903 [GRCh38]
Chr5:37061005 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6706A>G (p.Asn2236Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004527247] |
Chr5:37048618 [GRCh38]
Chr5:37048720 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2711G>C (p.Arg904Thr) |
single nucleotide variant |
NIPBL-related disorder [RCV003929780] |
Chr5:36985891 [GRCh38]
Chr5:36985993 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7973G>C (p.Ser2658Thr) |
single nucleotide variant |
not specified [RCV004526565] |
Chr5:37063902 [GRCh38]
Chr5:37064004 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.618A>G (p.Val206=) |
single nucleotide variant |
NIPBL-related disorder [RCV003904338] |
Chr5:36970883 [GRCh38]
Chr5:36970985 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2424A>G (p.Arg808=) |
single nucleotide variant |
NIPBL-related disorder [RCV003976781] |
Chr5:36985604 [GRCh38]
Chr5:36985706 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5863-32G>A |
single nucleotide variant |
NIPBL-related disorder [RCV003969633] |
Chr5:37036347 [GRCh38]
Chr5:37036449 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1378T>C (p.Ser460Pro) |
single nucleotide variant |
NIPBL-related disorder [RCV003896641] |
Chr5:36976285 [GRCh38]
Chr5:36976387 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6694C>G (p.Gln2232Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV003984943] |
Chr5:37048606 [GRCh38]
Chr5:37048708 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6528A>G (p.Leu2176=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005101679]|NIPBL-related disorder [RCV003904379] |
Chr5:37046138 [GRCh38]
Chr5:37046240 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5710-22T>C |
single nucleotide variant |
NIPBL-related disorder [RCV003959373] |
Chr5:37026207 [GRCh38]
Chr5:37026309 [GRCh37]
Chr5:5p13.2 |
benign |
| NM_133433.4(NIPBL):c.3540A>G (p.Lys1180=) |
single nucleotide variant |
NIPBL-related disorder [RCV003949251] |
Chr5:37000854 [GRCh38]
Chr5:37000956 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3855+8T>G |
single nucleotide variant |
NIPBL-related disorder [RCV003924068] |
Chr5:37003355 [GRCh38]
Chr5:37003457 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7485A>G (p.Glu2495=) |
single nucleotide variant |
NIPBL-related disorder [RCV003904444] |
Chr5:37058965 [GRCh38]
Chr5:37059067 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5863-23_5863-2del |
deletion |
NIPBL-related disorder [RCV003959678] |
Chr5:37036336..37036357 [GRCh38]
Chr5:37036438..37036459 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7427A>G (p.Lys2476Arg) |
single nucleotide variant |
not provided [RCV003993244] |
Chr5:37058907 [GRCh38]
Chr5:37059009 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6873dup (p.His2292fs) |
duplication |
NIPBL-related disorder [RCV003942056] |
Chr5:37049214..37049215 [GRCh38]
Chr5:37049316..37049317 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3962C>G (p.Pro1321Arg) |
single nucleotide variant |
not provided [RCV003993463] |
Chr5:37006463 [GRCh38]
Chr5:37006565 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7691T>C (p.Ile2564Thr) |
single nucleotide variant |
NIPBL-related disorder [RCV003894227] |
Chr5:37060849 [GRCh38]
Chr5:37060951 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7098G>A (p.Gln2366=) |
single nucleotide variant |
NIPBL-related disorder [RCV003971761] |
Chr5:37052401 [GRCh38]
Chr5:37052503 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2780_2784del (p.Lys927fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003988165]|NIPBL-related disorder [RCV003899055] |
Chr5:36985956..36985960 [GRCh38]
Chr5:36986058..36986062 [GRCh37]
Chr5:5p13.2 |
pathogenic|likely pathogenic |
| NM_133433.4(NIPBL):c.3575-9C>G |
single nucleotide variant |
NIPBL-related disorder [RCV003901454] |
Chr5:37000980 [GRCh38]
Chr5:37001082 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1413G>A (p.Leu471=) |
single nucleotide variant |
NIPBL-related disorder [RCV003957321] |
Chr5:36976320 [GRCh38]
Chr5:36976422 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1708_1709del (p.Ile570fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV003990458] |
Chr5:36984888..36984889 [GRCh38]
Chr5:36984990..36984991 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.8249A>G (p.Glu2750Gly) |
single nucleotide variant |
NIPBL-related disorder [RCV003896844] |
Chr5:37064726 [GRCh38]
Chr5:37064828 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4269dup (p.Val1424fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV004018038] |
Chr5:37008031..37008032 [GRCh38]
Chr5:37008133..37008134 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.7050_7052del (p.Gly2351del) |
deletion |
Cornelia de Lange syndrome 1 [RCV003991299] |
Chr5:37051874..37051876 [GRCh38]
Chr5:37051976..37051978 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3923C>T (p.Ala1308Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004566467] |
Chr5:37006424 [GRCh38]
Chr5:37006526 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6440T>G (p.Val2147Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004555180] |
Chr5:37045539 [GRCh38]
Chr5:37045641 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4524_4534delinsAG (p.Lys1509_Asn1512delinsAsp) |
indel |
not provided [RCV004592154] |
Chr5:37010189..37010199 [GRCh38]
Chr5:37010291..37010301 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6763+1_6763+2del |
deletion |
Cornelia de Lange syndrome 1 [RCV004555210] |
Chr5:37048675..37048676 [GRCh38]
Chr5:37048777..37048778 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.1259T>C (p.Leu420Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004595013] |
Chr5:36976166 [GRCh38]
Chr5:36976268 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3296C>A (p.Ala1099Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004585177] |
Chr5:36995796 [GRCh38]
Chr5:36995898 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.9:g.(?_37063872)_(37108593_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV004580520] |
Chr5:37063872..37108593 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NC_000005.9:g.(?_36683946)_(37187964_?)dup |
duplication |
Cornelia de Lange syndrome 1 [RCV004580521] |
Chr5:36683946..37187964 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.9:g.(?_36961566)_(37371079_?)dup |
duplication |
Cornelia de Lange syndrome 1 [RCV004580522] |
Chr5:36961566..37371079 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NC_000005.9:g.(?_36992705)_(37000570_?)del |
deletion |
Cornelia de Lange syndrome 1 [RCV004580524] |
Chr5:36992705..37000570 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.8273A>G (p.Lys2758Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004643717] |
Chr5:37064750 [GRCh38]
Chr5:37064852 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6752C>A (p.Ala2251Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004643718] |
Chr5:37048664 [GRCh38]
Chr5:37048766 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8095G>T (p.Ala2699Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004647196] |
Chr5:37064572 [GRCh38]
Chr5:37064674 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3681T>G (p.Ile1227Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004647198] |
Chr5:37002678 [GRCh38]
Chr5:37002780 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1253A>C (p.Gln418Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004821344]|Inborn genetic diseases [RCV004647199] |
Chr5:36976160 [GRCh38]
Chr5:36976262 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.3157C>G (p.Pro1053Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004647200] |
Chr5:36995657 [GRCh38]
Chr5:36995759 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2297G>C (p.Arg766Thr) |
single nucleotide variant |
not provided [RCV004585951] |
Chr5:36985477 [GRCh38]
Chr5:36985579 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8339del (p.Ser2780fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV004594766] |
Chr5:37064816 [GRCh38]
Chr5:37064918 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5225_5225+6del |
deletion |
Cornelia de Lange syndrome 1 [RCV004595203] |
Chr5:37020672..37020678 [GRCh38]
Chr5:37020774..37020780 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.874A>G (p.Arg292Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004595204] |
Chr5:36975781 [GRCh38]
Chr5:36975883 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7263+4A>G |
single nucleotide variant |
not provided [RCV004697900] |
Chr5:37052570 [GRCh38]
Chr5:37052672 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.3862G>A (p.Asp1288Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004643716] |
Chr5:37006363 [GRCh38]
Chr5:37006465 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.359-1513G>A |
single nucleotide variant |
not provided [RCV004699018] |
Chr5:36959971 [GRCh38]
Chr5:36960073 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7063-13T>C |
single nucleotide variant |
not specified [RCV004702198] |
Chr5:37052353 [GRCh38]
Chr5:37052455 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5201C>T (p.Thr1734Ile) |
single nucleotide variant |
NIPBL-related disorder [RCV004740066] |
Chr5:37020649 [GRCh38]
Chr5:37020751 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4891C>G (p.Gln1631Glu) |
single nucleotide variant |
NIPBL-related disorder [RCV004724340] |
Chr5:37017133 [GRCh38]
Chr5:37017235 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.308G>C (p.Ser103Thr) |
single nucleotide variant |
NIPBL-related disorder [RCV004739212] |
Chr5:36958181 [GRCh38]
Chr5:36958283 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.868G>C (p.Gly290Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004797527] |
Chr5:36972041 [GRCh38]
Chr5:36972143 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2329C>A (p.Pro777Thr) |
single nucleotide variant |
not provided [RCV004775983] |
Chr5:36985509 [GRCh38]
Chr5:36985611 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1492A>G (p.Lys498Glu) |
single nucleotide variant |
NIPBL-related disorder [RCV004724443] |
Chr5:36976399 [GRCh38]
Chr5:36976501 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.2129G>T (p.Arg710Leu) |
single nucleotide variant |
not provided [RCV004781152] |
Chr5:36985309 [GRCh38]
Chr5:36985411 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5604A>G (p.Val1868=) |
single nucleotide variant |
NIPBL-related disorder [RCV004729930] |
Chr5:37024614 [GRCh38]
Chr5:37024716 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6109-4A>T |
single nucleotide variant |
NIPBL-related disorder [RCV004739960] |
Chr5:37044343 [GRCh38]
Chr5:37044445 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4536T>A (p.Asn1512Lys) |
single nucleotide variant |
NIPBL-related disorder [RCV004728560] |
Chr5:37010201 [GRCh38]
Chr5:37010303 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5684G>C (p.Arg1895Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004720563] |
Chr5:37024694 [GRCh38]
Chr5:37024796 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4952T>A (p.Leu1651Ter) |
single nucleotide variant |
NIPBL-related disorder [RCV004728026] |
Chr5:37019342 [GRCh38]
Chr5:37019444 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.8231_8242del (p.Tyr2744_Ser2747del) |
deletion |
NIPBL-related disorder [RCV004728375] |
Chr5:37064701..37064712 [GRCh38]
Chr5:37064803..37064814 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.4003A>G (p.Arg1335Gly) |
single nucleotide variant |
not provided [RCV004771894] |
Chr5:37006504 [GRCh38]
Chr5:37006606 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3357G>A (p.Glu1119=) |
single nucleotide variant |
not specified [RCV004699862] |
Chr5:37000425 [GRCh38]
Chr5:37000527 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7291A>C (p.Ile2431Leu) |
single nucleotide variant |
NIPBL-related disorder [RCV004730161] |
Chr5:37057213 [GRCh38]
Chr5:37057315 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1036G>T (p.Asp346Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV004759462] |
|
uncertain significance |
| NM_133433.4(NIPBL):c.2902A>G (p.Asn968Asp) |
single nucleotide variant |
not provided [RCV004811731] |
Chr5:36986082 [GRCh38]
Chr5:36986184 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1538A>G (p.Glu513Gly) |
single nucleotide variant |
not provided [RCV004774141] |
Chr5:36984718 [GRCh38]
Chr5:36984820 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2159G>A (p.Gly720Glu) |
single nucleotide variant |
not provided [RCV004762597] |
|
uncertain significance |
| NM_133433.4(NIPBL):c.1371A>G (p.Gln457=) |
single nucleotide variant |
NIPBL-related disorder [RCV004740813] |
Chr5:36976278 [GRCh38]
Chr5:36976380 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5930A>G (p.Asn1977Ser) |
single nucleotide variant |
not provided [RCV004770838] |
Chr5:37036446 [GRCh38]
Chr5:37036548 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8366T>C (p.Val2789Ala) |
single nucleotide variant |
not provided [RCV004769937] |
Chr5:37064843 [GRCh38]
Chr5:37064945 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.828G>A (p.Gln276=) |
single nucleotide variant |
NIPBL-related disorder [RCV004740836] |
Chr5:36972001 [GRCh38]
Chr5:36972103 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3931T>G (p.Cys1311Gly) |
single nucleotide variant |
not provided [RCV004776242] |
Chr5:37006432 [GRCh38]
Chr5:37006534 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.851G>A (p.Ser284Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038851]|Inborn genetic diseases [RCV004961777] |
Chr5:36972024 [GRCh38]
Chr5:36972126 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3610G>A (p.Ala1204Thr) |
single nucleotide variant |
not provided [RCV004770686] |
Chr5:37001024 [GRCh38]
Chr5:37001126 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3512A>T (p.Lys1171Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038849]|Inborn genetic diseases [RCV004961769]|not specified [RCV005061498] |
Chr5:37000826 [GRCh38]
Chr5:37000928 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.865A>G (p.Lys289Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005038850]|Inborn genetic diseases [RCV004961775] |
Chr5:36972038 [GRCh38]
Chr5:36972140 [GRCh37]
Chr5:5p13.2 |
likely benign|uncertain significance |
| NM_133433.4(NIPBL):c.1395del (p.Tyr466fs) |
deletion |
NIPBL-related disorder [RCV004726431] |
Chr5:36976302 [GRCh38]
Chr5:36976404 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.211C>A (p.Gln71Lys) |
single nucleotide variant |
not provided [RCV004776034] |
Chr5:36955618 [GRCh38]
Chr5:36955720 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.43G>A (p.Gly15Arg) |
single nucleotide variant |
not provided [RCV004702098] |
Chr5:36953739 [GRCh38]
Chr5:36953841 [GRCh37]
Chr5:5p13.2 |
likely pathogenic |
| NM_133433.4(NIPBL):c.6954+3A>C |
single nucleotide variant |
not provided [RCV004721922] |
Chr5:37049304 [GRCh38]
Chr5:37049406 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6206T>A (p.Ile2069Asn) |
single nucleotide variant |
not provided [RCV004721995] |
Chr5:37044444 [GRCh38]
Chr5:37044546 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3293A>C (p.Glu1098Ala) |
single nucleotide variant |
not provided [RCV004775046] |
Chr5:36995793 [GRCh38]
Chr5:36995895 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7915G>A (p.Val2639Ile) |
single nucleotide variant |
not provided [RCV004770742] |
Chr5:37063844 [GRCh38]
Chr5:37063946 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1805_1808del (p.Lys602fs) |
deletion |
not provided [RCV004722338] |
Chr5:36984981..36984984 [GRCh38]
Chr5:36985083..36985086 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2900G>A (p.Gly967Asp) |
single nucleotide variant |
NIPBL-related disorder [RCV004728487] |
Chr5:36986080 [GRCh38]
Chr5:36986182 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8369_8390dup (p.Ala2798fs) |
duplication |
not provided [RCV004759928] |
|
uncertain significance |
| NM_133433.4(NIPBL):c.2060A>C (p.Lys687Thr) |
single nucleotide variant |
not provided [RCV004763231] |
|
uncertain significance |
| NM_133433.4(NIPBL):c.3304T>G (p.Ser1102Ala) |
single nucleotide variant |
not provided [RCV004772774] |
Chr5:36995804 [GRCh38]
Chr5:36995906 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.460C>T (p.Arg154Trp) |
single nucleotide variant |
NIPBL-related disorder [RCV004729900] |
Chr5:36962124 [GRCh38]
Chr5:36962226 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4192T>G (p.Ser1398Ala) |
single nucleotide variant |
NIPBL-related disorder [RCV004739026] |
Chr5:37007427 [GRCh38]
Chr5:37007529 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6333T>C (p.Asn2111=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035705] |
Chr5:37044719 [GRCh38]
Chr5:37044821 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7038C>A (p.Asp2346Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035708] |
Chr5:37051862 [GRCh38]
Chr5:37051964 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7063-19A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035709] |
Chr5:37052347 [GRCh38]
Chr5:37052449 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7867C>A (p.Leu2623Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004961768] |
Chr5:37063796 [GRCh38]
Chr5:37063898 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.164C>T (p.Ala55Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035623] |
Chr5:36955571 [GRCh38]
Chr5:36955673 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.671C>A (p.Ser224Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035629] |
Chr5:36970936 [GRCh38]
Chr5:36971038 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.872C>T (p.Ser291Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035631] |
Chr5:36975779 [GRCh38]
Chr5:36975881 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1207A>G (p.Thr403Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035633] |
Chr5:36976114 [GRCh38]
Chr5:36976216 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1362G>T (p.Gln454His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035636] |
Chr5:36976269 [GRCh38]
Chr5:36976371 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1586G>A (p.Gly529Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035638] |
Chr5:36984766 [GRCh38]
Chr5:36984868 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1857A>G (p.Arg619=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035641] |
Chr5:36985037 [GRCh38]
Chr5:36985139 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1945G>A (p.Glu649Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035644] |
Chr5:36985125 [GRCh38]
Chr5:36985227 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1991A>T (p.Asn664Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035645] |
Chr5:36985171 [GRCh38]
Chr5:36985273 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2011C>A (p.Pro671Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035646] |
Chr5:36985191 [GRCh38]
Chr5:36985293 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2078C>T (p.Ser693Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035647] |
Chr5:36985258 [GRCh38]
Chr5:36985360 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2164C>T (p.Pro722Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035649] |
Chr5:36985344 [GRCh38]
Chr5:36985446 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2456A>G (p.Asp819Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035652] |
Chr5:36985636 [GRCh38]
Chr5:36985738 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2556T>G (p.Asn852Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035654] |
Chr5:36985736 [GRCh38]
Chr5:36985838 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.9G>T (p.Gly3=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035618] |
Chr5:36953705 [GRCh38]
Chr5:36953807 [GRCh37]
Chr5:5p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_133433.4(NIPBL):c.149T>G (p.Val50Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035622] |
Chr5:36955556 [GRCh38]
Chr5:36955658 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.412_413delinsCT (p.Ala138Leu) |
indel |
Cornelia de Lange syndrome 1 [RCV005035624] |
Chr5:36961537..36961538 [GRCh38]
Chr5:36961639..36961640 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.466G>T (p.Val156Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035626] |
Chr5:36962130 [GRCh38]
Chr5:36962232 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.506A>G (p.Gln169Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035627] |
Chr5:36962170 [GRCh38]
Chr5:36962272 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2794A>G (p.Lys932Glu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035661] |
Chr5:36985974 [GRCh38]
Chr5:36986076 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2839G>T (p.Gly947Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035664] |
Chr5:36986019 [GRCh38]
Chr5:36986121 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2914G>A (p.Glu972Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035666] |
Chr5:36986094 [GRCh38]
Chr5:36986196 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2927T>C (p.Met976Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035667] |
Chr5:36986107 [GRCh38]
Chr5:36986209 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3028T>A (p.Leu1010Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035670] |
Chr5:36986208 [GRCh38]
Chr5:36986310 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3241G>C (p.Glu1081Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035672] |
Chr5:36995741 [GRCh38]
Chr5:36995843 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.64C>T (p.Leu22Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035619] |
Chr5:36953760 [GRCh38]
Chr5:36953862 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.128A>G (p.Asn43Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035620] |
Chr5:36955535 [GRCh38]
Chr5:36955637 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2576A>T (p.Asp859Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035656] |
Chr5:36985756 [GRCh38]
Chr5:36985858 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2612G>A (p.Arg871Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035657] |
Chr5:36985792 [GRCh38]
Chr5:36985894 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2743A>C (p.Ser915Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035660] |
Chr5:36985923 [GRCh38]
Chr5:36986025 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5315T>C (p.Ile1772Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035690] |
Chr5:37020864 [GRCh38]
Chr5:37020966 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5797A>G (p.Ile1933Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035696] |
Chr5:37026316 [GRCh38]
Chr5:37026418 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7337C>T (p.Pro2446Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035711] |
Chr5:37057259 [GRCh38]
Chr5:37057361 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7738A>G (p.Ile2580Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035716] |
Chr5:37060896 [GRCh38]
Chr5:37060998 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8073T>A (p.Asn2691Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035717] |
Chr5:37064550 [GRCh38]
Chr5:37064652 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8299A>C (p.Lys2767Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035719] |
Chr5:37064776 [GRCh38]
Chr5:37064878 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2022T>G (p.Asn674Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004961776] |
Chr5:36985202 [GRCh38]
Chr5:36985304 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2294G>C (p.Arg765Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004961779] |
Chr5:36985474 [GRCh38]
Chr5:36985576 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.466G>A (p.Val156Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035625] |
Chr5:36962130 [GRCh38]
Chr5:36962232 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.753G>T (p.Val251=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035630] |
Chr5:36971018 [GRCh38]
Chr5:36971120 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1103C>T (p.Ser368Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035632] |
Chr5:36976010 [GRCh38]
Chr5:36976112 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1832G>T (p.Ser611Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035640] |
Chr5:36985012 [GRCh38]
Chr5:36985114 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2810A>G (p.Asn937Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035662] |
Chr5:36985990 [GRCh38]
Chr5:36986092 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2968G>A (p.Gly990Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035668] |
Chr5:36986148 [GRCh38]
Chr5:36986250 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3415A>T (p.Arg1139Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035675] |
Chr5:37000483 [GRCh38]
Chr5:37000585 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3439C>G (p.Arg1147Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035676] |
Chr5:37000507 [GRCh38]
Chr5:37000609 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3647T>C (p.Met1216Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035677] |
Chr5:37001061 [GRCh38]
Chr5:37001163 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3863A>T (p.Asp1288Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035681] |
Chr5:37006364 [GRCh38]
Chr5:37006466 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3990G>C (p.Glu1330Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035683] |
Chr5:37006491 [GRCh38]
Chr5:37006593 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4777-5T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035686] |
Chr5:37017014 [GRCh38]
Chr5:37017116 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5462T>C (p.Met1821Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035693] |
Chr5:37022278 [GRCh38]
Chr5:37022380 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6177G>T (p.Glu2059Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035703] |
Chr5:37044415 [GRCh38]
Chr5:37044517 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6262T>G (p.Cys2088Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035704] |
Chr5:37044648 [GRCh38]
Chr5:37044750 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7524TTCAGA[5] (p.Ser2515_Glu2516insAspSer) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV005035713] |
Chr5:37059000..37059001 [GRCh38]
Chr5:37059102..37059103 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.68T>G (p.Leu23Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004961772] |
Chr5:36955475 [GRCh38]
Chr5:36955577 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1211C>T (p.Pro404Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035634] |
Chr5:36976118 [GRCh38]
Chr5:36976220 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1348A>G (p.Thr450Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035635] |
Chr5:36976255 [GRCh38]
Chr5:36976357 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1891G>C (p.Val631Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035642] |
Chr5:36985071 [GRCh38]
Chr5:36985173 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2164C>A (p.Pro722Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035648] |
Chr5:36985344 [GRCh38]
Chr5:36985446 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2261G>A (p.Arg754Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035651] |
Chr5:36985441 [GRCh38]
Chr5:36985543 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2573C>T (p.Ser858Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035655] |
Chr5:36985753 [GRCh38]
Chr5:36985855 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2737C>T (p.Pro913Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035659] |
Chr5:36985917 [GRCh38]
Chr5:36986019 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2813A>G (p.Lys938Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035663] |
Chr5:36985993 [GRCh38]
Chr5:36986095 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2888G>T (p.Arg963Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035665] |
Chr5:36986068 [GRCh38]
Chr5:36986170 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3042G>C (p.Gln1014His) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035671] |
Chr5:36986222 [GRCh38]
Chr5:36986324 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3288TGA[1] (p.Asp1097del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV005035673] |
Chr5:36995788..36995790 [GRCh38]
Chr5:36995890..36995892 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3411AAG[1] (p.Arg1139del) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV005035674] |
Chr5:37000478..37000480 [GRCh38]
Chr5:37000580..37000582 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2396A>G (p.Glu799Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004961767] |
Chr5:36985576 [GRCh38]
Chr5:36985678 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7009A>C (p.Lys2337Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004961770] |
Chr5:37051833 [GRCh38]
Chr5:37051935 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4147A>G (p.Ile1383Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004961771] |
Chr5:37007382 [GRCh38]
Chr5:37007484 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2161C>T (p.His721Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004961773] |
Chr5:36985341 [GRCh38]
Chr5:36985443 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3775A>G (p.Thr1259Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004961774] |
Chr5:37003267 [GRCh38]
Chr5:37003369 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4909A>G (p.Ile1637Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004961778] |
Chr5:37017151 [GRCh38]
Chr5:37017253 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3664+4A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035678] |
Chr5:37001082 [GRCh38]
Chr5:37001184 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3706C>T (p.His1236Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035679] |
Chr5:37002703 [GRCh38]
Chr5:37002805 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3757A>G (p.Ile1253Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035680] |
Chr5:37002754 [GRCh38]
Chr5:37002856 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4052A>G (p.Gln1351Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035684] |
Chr5:37006553 [GRCh38]
Chr5:37006655 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4100G>A (p.Ser1367Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035685] |
Chr5:37007335 [GRCh38]
Chr5:37007437 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4884A>C (p.Lys1628Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035687] |
Chr5:37017126 [GRCh38]
Chr5:37017228 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5150T>C (p.Met1717Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035688] |
Chr5:37020598 [GRCh38]
Chr5:37020700 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5153A>G (p.His1718Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035689] |
Chr5:37020601 [GRCh38]
Chr5:37020703 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5416A>G (p.Ile1806Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035692] |
Chr5:37022138 [GRCh38]
Chr5:37022240 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5510G>T (p.Arg1837Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035694] |
Chr5:37022326 [GRCh38]
Chr5:37022428 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5791T>G (p.Leu1931Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035695] |
Chr5:37026310 [GRCh38]
Chr5:37026412 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5862C>T (p.Asn1954=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035697] |
Chr5:37027412 [GRCh38]
Chr5:37027514 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5863-15T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035698] |
Chr5:37036364 [GRCh38]
Chr5:37036466 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5915C>T (p.Thr1972Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035699] |
Chr5:37036431 [GRCh38]
Chr5:37036533 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6084A>G (p.Gln2028=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035700] |
Chr5:37038714 [GRCh38]
Chr5:37038816 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6110C>T (p.Thr2037Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035701] |
Chr5:37044348 [GRCh38]
Chr5:37044450 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6140T>C (p.Val2047Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035702] |
Chr5:37044378 [GRCh38]
Chr5:37044480 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6617T>C (p.Leu2206Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035706] |
Chr5:37048529 [GRCh38]
Chr5:37048631 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6669G>T (p.Lys2223Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035707] |
Chr5:37048581 [GRCh38]
Chr5:37048683 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7472G>A (p.Ser2491Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035712] |
Chr5:37058952 [GRCh38]
Chr5:37059054 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7543_7548del (p.Ser2515_Glu2516del) |
deletion |
Cornelia de Lange syndrome 1 [RCV005035714] |
Chr5:37059023..37059028 [GRCh38]
Chr5:37059125..37059130 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7639C>T (p.Leu2547Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035715] |
Chr5:37059119 [GRCh38]
Chr5:37059221 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.512A>G (p.Asn171Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035628] |
Chr5:36962176 [GRCh38]
Chr5:36962278 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1735T>A (p.Ser579Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035639] |
Chr5:36984915 [GRCh38]
Chr5:36985017 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1937C>A (p.Thr646Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035643] |
Chr5:36985117 [GRCh38]
Chr5:36985219 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2623G>A (p.Gly875Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035658] |
Chr5:36985803 [GRCh38]
Chr5:36985905 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3943A>G (p.Ile1315Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005035682] |
Chr5:37006444 [GRCh38]
Chr5:37006546 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1394T>C (p.Ile465Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043292] |
Chr5:36976301 [GRCh38]
Chr5:36976403 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3064G>A (p.Asp1022Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043297] |
Chr5:36986244 [GRCh38]
Chr5:36986346 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4421+4A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043301] |
Chr5:37008727 [GRCh38]
Chr5:37008829 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5709+20A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043303] |
Chr5:37024739 [GRCh38]
Chr5:37024841 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6954+6C>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043306] |
Chr5:37049307 [GRCh38]
Chr5:37049409 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2225G>A (p.Ser742Asn) |
single nucleotide variant |
not provided [RCV004997714] |
Chr5:36985405 [GRCh38]
Chr5:36985507 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1706A>G (p.Glu569Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043293] |
Chr5:36984886 [GRCh38]
Chr5:36984988 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3002C>T (p.Pro1001Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043296] |
Chr5:36986182 [GRCh38]
Chr5:36986284 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6625G>A (p.Glu2209Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043305] |
Chr5:37048537 [GRCh38]
Chr5:37048639 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7828G>A (p.Val2610Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043310] |
Chr5:37060986 [GRCh38]
Chr5:37061088 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6108T>C (p.Ser2036=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043304] |
Chr5:37038738 [GRCh38]
Chr5:37038840 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8382C>T (p.Ser2794=) |
single nucleotide variant |
not specified [RCV005000731] |
Chr5:37064859 [GRCh38]
Chr5:37064961 [GRCh37]
Chr5:5p13.2 |
likely benign |
| GRCh37/hg19 5p13.2(chr5:37015537-37896747)x3 |
copy number gain |
not provided [RCV004819491] |
Chr5:37015537..37896747 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh37/hg19 5p13.2(chr5:36958411-37254744)x3 |
copy number gain |
not provided [RCV004819490] |
Chr5:36958411..37254744 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.802G>A (p.Ala268Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043289] |
Chr5:36971975 [GRCh38]
Chr5:36972077 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.835T>C (p.Cys279Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043290] |
Chr5:36972008 [GRCh38]
Chr5:36972110 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4935A>C (p.Glu1645Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043302] |
Chr5:37019325 [GRCh38]
Chr5:37019427 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7768C>G (p.Pro2590Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043309] |
Chr5:37060926 [GRCh38]
Chr5:37061028 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7744C>T (p.Arg2582Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005002087] |
Chr5:37060902 [GRCh38]
Chr5:37061004 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| GRCh37/hg19 5p13.2(chr5:37017118-37127059)x3 |
copy number gain |
not provided [RCV004819492] |
Chr5:37017118..37127059 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| GRCh38/hg38 5p13.2(chr5:37032545-37037174)x1 |
copy number loss |
Cornelia de Lange syndrome 1 [RCV005000648] |
Chr5:37032545..37037174 [GRCh38]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.302C>T (p.Ala101Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043286] |
Chr5:36958175 [GRCh38]
Chr5:36958277 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.406A>C (p.Ser136Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043287] |
Chr5:36961531 [GRCh38]
Chr5:36961633 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2334A>C (p.Glu778Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043295] |
Chr5:36985514 [GRCh38]
Chr5:36985616 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3433C>T (p.Arg1145Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043298] |
Chr5:37000501 [GRCh38]
Chr5:37000603 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7049C>G (p.Ala2350Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043307] |
Chr5:37051873 [GRCh38]
Chr5:37051975 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.8125G>T (p.Asp2709Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043311] |
Chr5:37064602 [GRCh38]
Chr5:37064704 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.89C>G (p.Ser30Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043284] |
Chr5:36955496 [GRCh38]
Chr5:36955598 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.755A>G (p.His252Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043288] |
Chr5:36971020 [GRCh38]
Chr5:36971122 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.166T>C (p.Cys56Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043285] |
Chr5:36955573 [GRCh38]
Chr5:36955675 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3502+8A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043299] |
Chr5:37000578 [GRCh38]
Chr5:37000680 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7063-7A>T |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005043308] |
Chr5:37052359 [GRCh38]
Chr5:37052461 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3304+14A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005087289] |
Chr5:36995818 [GRCh38]
Chr5:36995920 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8409C>A (p.Ser2803=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005170718] |
Chr5:37064886 [GRCh38]
Chr5:37064988 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2855C>T (p.Ala952Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005145948] |
Chr5:36986035 [GRCh38]
Chr5:36986137 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2107C>T (p.Pro703Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005171860] |
Chr5:36985287 [GRCh38]
Chr5:36985389 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3502+10del |
deletion |
Cornelia de Lange syndrome 1 [RCV005087996] |
Chr5:37000580 [GRCh38]
Chr5:37000682 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4777-14_4777-13del |
deletion |
Cornelia de Lange syndrome 1 [RCV005088027] |
Chr5:37017004..37017005 [GRCh38]
Chr5:37017106..37017107 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3367del (p.Arg1123fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV005229715] |
Chr5:37000434 [GRCh38]
Chr5:37000536 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5571A>T (p.Ile1857=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005087399] |
Chr5:37022387 [GRCh38]
Chr5:37022489 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3648G>A (p.Met1216Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005065868] |
Chr5:37001062 [GRCh38]
Chr5:37001164 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3108A>G (p.Ser1036=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005174504] |
Chr5:36986288 [GRCh38]
Chr5:36986390 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7023A>G (p.Gln2341=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005086327] |
Chr5:37051847 [GRCh38]
Chr5:37051949 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3856-15A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005064200] |
Chr5:37006342 [GRCh38]
Chr5:37006444 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3940A>G (p.Thr1314Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005086187] |
Chr5:37006441 [GRCh38]
Chr5:37006543 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7956A>G (p.Ser2652=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005170717] |
Chr5:37063885 [GRCh38]
Chr5:37063987 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7736C>T (p.Ala2579Val) |
single nucleotide variant |
not provided [RCV005227265] |
Chr5:37060894 [GRCh38]
Chr5:37060996 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4212A>G (p.Gln1404=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005084995] |
Chr5:37007447 [GRCh38]
Chr5:37007549 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7716T>C (p.Ser2572=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005145212] |
Chr5:37060874 [GRCh38]
Chr5:37060976 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4920+13_4920+14del |
deletion |
Cornelia de Lange syndrome 1 [RCV005085701] |
Chr5:37017173..37017174 [GRCh38]
Chr5:37017275..37017276 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.670T>G (p.Ser224Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005088774] |
Chr5:36970935 [GRCh38]
Chr5:36971037 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3021A>G (p.Lys1007=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005086800] |
Chr5:36986201 [GRCh38]
Chr5:36986303 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5524C>T (p.Arg1842Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005229756] |
Chr5:37022340 [GRCh38]
Chr5:37022442 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1253_1254insTGA (p.Gln418delinsHisGlu) |
insertion |
Cornelia de Lange syndrome 1 [RCV005172668] |
Chr5:36976159..36976160 [GRCh38]
Chr5:36976261..36976262 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5227A>G (p.Met1743Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005084685] |
Chr5:37020776 [GRCh38]
Chr5:37020878 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5972-4C>T |
single nucleotide variant |
not specified [RCV005088611] |
Chr5:37038598 [GRCh38]
Chr5:37038700 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2655A>G (p.Glu885=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005206422] |
Chr5:36985835 [GRCh38]
Chr5:36985937 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.797_798dup (p.Ala267fs) |
duplication |
Cornelia de Lange syndrome 1 [RCV005129739] |
Chr5:36971969..36971970 [GRCh38]
Chr5:36972071..36972072 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3844T>G (p.Leu1282Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113918] |
Chr5:37003336 [GRCh38]
Chr5:37003438 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6344-9_6344-4del |
deletion |
Cornelia de Lange syndrome 1 [RCV005139797] |
Chr5:37045430..37045435 [GRCh38]
Chr5:37045532..37045537 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6589+18T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005179601] |
Chr5:37046217 [GRCh38]
Chr5:37046319 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.358+19G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005181599] |
Chr5:36958250 [GRCh38]
Chr5:36958352 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.748A>T (p.Met250Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005112186] |
Chr5:36971013 [GRCh38]
Chr5:36971115 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2036C>T (p.Ser679Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005112187] |
Chr5:36985216 [GRCh38]
Chr5:36985318 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.700C>T (p.His234Tyr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005185861] |
Chr5:36970965 [GRCh38]
Chr5:36971067 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.458+2T>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005110969] |
Chr5:36961585 [GRCh38]
Chr5:36961687 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.1495+18_1495+20del |
microsatellite |
Cornelia de Lange syndrome 1 [RCV005156330] |
Chr5:36976416..36976418 [GRCh38]
Chr5:36976518..36976520 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2004A>C (p.Ile668=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005077268] |
Chr5:36985184 [GRCh38]
Chr5:36985286 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2739A>G (p.Pro913=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005191979] |
Chr5:36985919 [GRCh38]
Chr5:36986021 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6375A>G (p.Gln2125=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005110501] |
Chr5:37045474 [GRCh38]
Chr5:37045576 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5575-13T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005076253] |
Chr5:37024572 [GRCh38]
Chr5:37024674 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7872C>G (p.Leu2624=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005188963] |
Chr5:37063801 [GRCh38]
Chr5:37063903 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7906G>T (p.Glu2636Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005134802] |
Chr5:37063835 [GRCh38]
Chr5:37063937 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3926A>T (p.Asp1309Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113920] |
Chr5:37006427 [GRCh38]
Chr5:37006529 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3889A>G (p.Arg1297Gly) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113919] |
Chr5:37006390 [GRCh38]
Chr5:37006492 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2946G>A (p.Pro982=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005184243] |
Chr5:36986126 [GRCh38]
Chr5:36986228 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6343+17G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005203466] |
Chr5:37044746 [GRCh38]
Chr5:37044848 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5428-7T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005077682] |
Chr5:37022237 [GRCh38]
Chr5:37022339 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7323G>A (p.Gln2441=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005079144] |
Chr5:37057245 [GRCh38]
Chr5:37057347 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5575-16del |
deletion |
Cornelia de Lange syndrome 1 [RCV005189942] |
Chr5:37024569 [GRCh38]
Chr5:37024671 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8030G>A (p.Arg2677Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005081407] |
Chr5:37063959 [GRCh38]
Chr5:37064061 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7812C>G (p.Ser2604=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005156986] |
Chr5:37060970 [GRCh38]
Chr5:37061072 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6880C>T (p.Gln2294Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005200484] |
Chr5:37049227 [GRCh38]
Chr5:37049329 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7227_7230del (p.Phe2409fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV005121081] |
Chr5:37052527..37052530 [GRCh38]
Chr5:37052629..37052632 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.2160G>A (p.Gly720=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005161356] |
Chr5:36985340 [GRCh38]
Chr5:36985442 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1993G>A (p.Glu665Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005180046] |
Chr5:36985173 [GRCh38]
Chr5:36985275 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.117C>T (p.Ser39=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005149715] |
Chr5:36955524 [GRCh38]
Chr5:36955626 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3165C>T (p.Leu1055=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005156227] |
Chr5:36995665 [GRCh38]
Chr5:36995767 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5815G>A (p.Ala1939Thr) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005162381] |
Chr5:37027365 [GRCh38]
Chr5:37027467 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1370A>G (p.Gln457Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005144663] |
Chr5:36976277 [GRCh38]
Chr5:36976379 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6250-13C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005154316] |
Chr5:37044623 [GRCh38]
Chr5:37044725 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1168A>T (p.Ile390Phe) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005119809] |
Chr5:36976075 [GRCh38]
Chr5:36976177 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6179A>G (p.His2060Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113926] |
Chr5:37044417 [GRCh38]
Chr5:37044519 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4876A>G (p.Thr1626Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113924] |
Chr5:37017118 [GRCh38]
Chr5:37017220 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4700A>G (p.Gln1567Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113921] |
Chr5:37016094 [GRCh38]
Chr5:37016196 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2006T>A (p.Val669Asp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005167449] |
Chr5:36985186 [GRCh38]
Chr5:36985288 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6343+15A>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005169629] |
Chr5:37044744 [GRCh38]
Chr5:37044846 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4921-5T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005169691] |
Chr5:37019306 [GRCh38]
Chr5:37019408 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2681G>C (p.Arg894Pro) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005112189] |
Chr5:36985861 [GRCh38]
Chr5:36985963 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4561-4C>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005189587] |
Chr5:37014679 [GRCh38]
Chr5:37014781 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5972-25_5972-13del |
deletion |
Cornelia de Lange syndrome 1 [RCV005138004] |
Chr5:37038574..37038586 [GRCh38]
Chr5:37038676..37038688 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.3347_3348insGCTTT (p.Tyr1117fs) |
insertion |
Cornelia de Lange syndrome 1 [RCV005141446] |
Chr5:37000415..37000416 [GRCh38]
Chr5:37000517..37000518 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3796T>C (p.Leu1266=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005083984] |
Chr5:37003288 [GRCh38]
Chr5:37003390 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.64+13A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005155075] |
Chr5:36953773 [GRCh38]
Chr5:36953875 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1468C>T (p.Arg490Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005163555] |
Chr5:36976375 [GRCh38]
Chr5:36976477 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.771+20T>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005179240] |
Chr5:36971056 [GRCh38]
Chr5:36971158 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7456A>T (p.Lys2486Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005135423] |
Chr5:37058936 [GRCh38]
Chr5:37059038 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.6250-10T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005121707] |
Chr5:37044626 [GRCh38]
Chr5:37044728 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1806A>G (p.Lys602=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005083141] |
Chr5:36984986 [GRCh38]
Chr5:36985088 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6589+4A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005197852] |
Chr5:37046203 [GRCh38]
Chr5:37046305 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1290_1291delinsCC (p.Ala431Pro) |
indel |
Cornelia de Lange syndrome 1 [RCV005138748] |
Chr5:36976197..36976198 [GRCh38]
Chr5:36976299..36976300 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2148A>G (p.Gln716=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005083217] |
Chr5:36985328 [GRCh38]
Chr5:36985430 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7292_7293dup (p.Ala2432Ter) |
microsatellite |
Cornelia de Lange syndrome 1 [RCV005177355] |
Chr5:37057209..37057210 [GRCh38]
Chr5:37057311..37057312 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.741C>T (p.Tyr247=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005204840] |
Chr5:36971006 [GRCh38]
Chr5:36971108 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.513T>C (p.Asn171=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005159746] |
Chr5:36962177 [GRCh38]
Chr5:36962279 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2013T>G (p.Pro671=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005157727] |
Chr5:36985193 [GRCh38]
Chr5:36985295 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5226-18A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005188667] |
Chr5:37020757 [GRCh38]
Chr5:37020859 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6472C>G (p.Leu2158Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005162961] |
Chr5:37045571 [GRCh38]
Chr5:37045673 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5225+8C>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005138972] |
Chr5:37020681 [GRCh38]
Chr5:37020783 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2349_2352del (p.Gln784fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV005138055] |
Chr5:36985527..36985530 [GRCh38]
Chr5:36985629..36985632 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.3477T>A (p.Tyr1159Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005128384] |
Chr5:37000545 [GRCh38]
Chr5:37000647 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.5553T>C (p.Asp1851=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005081236] |
Chr5:37022369 [GRCh38]
Chr5:37022471 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1859T>G (p.Leu620Ter) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005133256] |
Chr5:36985039 [GRCh38]
Chr5:36985141 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.7629T>G (p.Ile2543Met) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113934] |
Chr5:37059109 [GRCh38]
Chr5:37059211 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7103A>G (p.Gln2368Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113933] |
Chr5:37052406 [GRCh38]
Chr5:37052508 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6853C>A (p.Gln2285Lys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113932] |
Chr5:37049200 [GRCh38]
Chr5:37049302 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.201T>C (p.His67=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005077616] |
Chr5:36955608 [GRCh38]
Chr5:36955710 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2798C>T (p.Ala933Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005083681] |
Chr5:36985978 [GRCh38]
Chr5:36986080 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5575-8G>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005150208] |
Chr5:37024577 [GRCh38]
Chr5:37024679 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.6439G>A (p.Val2147Ile) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005135052] |
Chr5:37045538 [GRCh38]
Chr5:37045640 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7861-19T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005135171] |
Chr5:37063771 [GRCh38]
Chr5:37063873 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.1827A>C (p.Ser609=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005197479] |
Chr5:36985007 [GRCh38]
Chr5:36985109 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.636A>T (p.Ala212=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005116445] |
Chr5:36970901 [GRCh38]
Chr5:36971003 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3104C>T (p.Pro1035Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005136577] |
Chr5:36986284 [GRCh38]
Chr5:36986386 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.2468A>G (p.Lys823Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005112188] |
Chr5:36985648 [GRCh38]
Chr5:36985750 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.467T>C (p.Val156Ala) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005178642] |
Chr5:36962131 [GRCh38]
Chr5:36962233 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4857G>A (p.Arg1619=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005112153] |
Chr5:37017099 [GRCh38]
Chr5:37017201 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7551C>T (p.Asp2517=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005071363] |
Chr5:37059031 [GRCh38]
Chr5:37059133 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.4422-8_4422-5del |
deletion |
Cornelia de Lange syndrome 1 [RCV005122976] |
Chr5:37010077..37010080 [GRCh38]
Chr5:37010179..37010182 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3743_3744del (p.Ile1248fs) |
deletion |
Cornelia de Lange syndrome 1 [RCV005204342] |
Chr5:37002739..37002740 [GRCh38]
Chr5:37002841..37002842 [GRCh37]
Chr5:5p13.2 |
pathogenic |
| NM_133433.4(NIPBL):c.4793A>G (p.Asn1598Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005108221] |
Chr5:37017035 [GRCh38]
Chr5:37017137 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.4815A>G (p.Leu1605=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005200984] |
Chr5:37017057 [GRCh38]
Chr5:37017159 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3306C>T (p.Ser1102=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005074157] |
Chr5:37000374 [GRCh38]
Chr5:37000476 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.5862+10C>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005202167] |
Chr5:37027422 [GRCh38]
Chr5:37027524 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.771+13T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005149068] |
Chr5:36971049 [GRCh38]
Chr5:36971151 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.2246A>G (p.Gln749Arg) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005069677] |
Chr5:36985426 [GRCh38]
Chr5:36985528 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1590T>C (p.Ser530=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005155268] |
Chr5:36984770 [GRCh38]
Chr5:36984872 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.3305-13G>A |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005179274] |
Chr5:37000360 [GRCh38]
Chr5:37000462 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7004G>A (p.Arg2335Gln) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005149907] |
Chr5:37051828 [GRCh38]
Chr5:37051930 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5010+20T>C |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005153382] |
Chr5:37019420 [GRCh38]
Chr5:37019522 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.8263G>A (p.Asp2755Asn) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005150003] |
Chr5:37064740 [GRCh38]
Chr5:37064842 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6671A>G (p.Asn2224Ser) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113931] |
Chr5:37048583 [GRCh38]
Chr5:37048685 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6539T>G (p.Phe2180Cys) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113930] |
Chr5:37046149 [GRCh38]
Chr5:37046251 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6455G>T (p.Arg2152Leu) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113929] |
Chr5:37045554 [GRCh38]
Chr5:37045656 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.6273T>G (p.Cys2091Trp) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113928] |
Chr5:37044659 [GRCh38]
Chr5:37044761 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.5623A>G (p.Ile1875Val) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005113925] |
Chr5:37024633 [GRCh38]
Chr5:37024735 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.1128_1130dup (p.Met376_Ile377insMet) |
duplication |
Cornelia de Lange syndrome 1 [RCV005074764] |
Chr5:36976032..36976033 [GRCh38]
Chr5:36976134..36976135 [GRCh37]
Chr5:5p13.2 |
uncertain significance |
| NM_133433.4(NIPBL):c.7077T>C (p.Ala2359=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005130323] |
Chr5:37052380 [GRCh38]
Chr5:37052482 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.7164T>A (p.Ser2388=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005182170] |
Chr5:37052467 [GRCh38]
Chr5:37052569 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.231-20A>G |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005070192] |
Chr5:36958084 [GRCh38]
Chr5:36958186 [GRCh37]
Chr5:5p13.2 |
likely benign |
| NM_133433.4(NIPBL):c.879A>C (p.Pro293=) |
single nucleotide variant |
Cornelia de Lange syndrome 1 [RCV005180942] |
Chr5:36975786 [GRCh38]
Chr5:36975888 [GRCh37]
Chr5:5p13.2 |
likely benign |
