| NM_004523.4(KIF11):c.2841_2843del (p.Leu948del) |
deletion |
not provided [RCV000519415] |
Chr10:92649903..92649905 [GRCh38]
Chr10:94409660..94409662 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs) |
microsatellite |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000022635]|not provided [RCV001857354] |
Chr10:92616741..92616742 [GRCh38]
Chr10:94376498..94376499 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1592del (p.Gln531fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000022637] |
Chr10:92632583 [GRCh38]
Chr10:94392340 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2547+2T>C |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000022638] |
Chr10:92645644 [GRCh38]
Chr10:94405401 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.574-43G>T |
single nucleotide variant |
not provided [RCV001564517] |
Chr10:92609342 [GRCh38]
Chr10:94369099 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2178_2181del (p.Met726fs) |
deletion |
not provided [RCV000627610] |
Chr10:92639808..92639811 [GRCh38]
Chr10:94399565..94399568 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.980G>A (p.Arg327His) |
single nucleotide variant |
Inborn genetic diseases [RCV004026931]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000723331]|not provided [RCV001367340] |
Chr10:92613567 [GRCh38]
Chr10:94373324 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NG_032580.1:g.(92613040_92613130)_(92613377_92613619)del |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001527672] |
|
likely pathogenic |
| NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000022634] |
Chr10:92621415 [GRCh38]
Chr10:94381172 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV000624042]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000022636]|not provided [RCV001268907] |
Chr10:92649894 [GRCh38]
Chr10:94409651 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000022639]|not provided [RCV002513169] |
Chr10:92613045 [GRCh38]
Chr10:94372802 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic|uncertain significance |
| GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1 |
copy number loss |
See cases [RCV000052564] |
Chr10:92626680..97755102 [GRCh38]
Chr10:94386437..99514859 [GRCh37]
Chr10:94376417..99504849 [NCBI36]
Chr10:10q23.33-24.2 |
pathogenic |
| GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] |
Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3 |
pathogenic |
| NM_004523.4(KIF11):c.1912A>T (p.Met638Leu) |
single nucleotide variant |
not provided [RCV001231608] |
Chr10:92637220 [GRCh38]
Chr10:94396977 [GRCh37]
Chr10:94386957 [NCBI36]
Chr10:10q23.33 |
uncertain significance|not provided |
| NM_004523.4(KIF11):c.151A>G (p.Ser51Gly) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001331251] |
Chr10:92606338 [GRCh38]
Chr10:94366095 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.131A>G (p.Asp44Gly) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001331250] |
Chr10:92606318 [GRCh38]
Chr10:94366075 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2161-1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001331253]|not provided [RCV003546702] |
Chr10:92639793 [GRCh38]
Chr10:94399550 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.2279A>T (p.Asp760Val) |
single nucleotide variant |
KIF11-related disorder [RCV004753287]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001331254] |
Chr10:92645374 [GRCh38]
Chr10:94405131 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000172876] |
Chr10:92630278 [GRCh38]
Chr10:94390035 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.790-1G>T |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) [RCV001270814]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000172877] |
Chr10:92613376 [GRCh38]
Chr10:94373133 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1 |
copy number loss |
See cases [RCV000137919] |
Chr10:92643919..95471137 [GRCh38]
Chr10:94403676..97230894 [GRCh37]
Chr10:94393656..97220884 [NCBI36]
Chr10:10q23.33-24.1 |
pathogenic |
| NM_004523.4(KIF11):c.3113C>T (p.Thr1038Ile) |
single nucleotide variant |
not provided [RCV001062571] |
Chr10:92653738 [GRCh38]
Chr10:94413495 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000161138] |
Chr10:92645393..92645394 [GRCh38]
Chr10:94405150..94405151 [GRCh37]
Chr10:10q23.33 |
pathogenic|not provided |
| NM_004523.4(KIF11):c.790-1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000161139] |
Chr10:92613376 [GRCh38]
Chr10:94373133 [GRCh37]
Chr10:10q23.33 |
pathogenic|not provided |
| NM_004523.4(KIF11):c.1879G>T (p.Val627Leu) |
single nucleotide variant |
KIF11-related disorder [RCV003955159]|not provided [RCV000884464]|not specified [RCV000193960] |
Chr10:92637187 [GRCh38]
Chr10:94396944 [GRCh37]
Chr10:10q23.33 |
benign|likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2771-6T>A |
single nucleotide variant |
not provided [RCV000962941]|not specified [RCV000195175] |
Chr10:92649829 [GRCh38]
Chr10:94409586 [GRCh37]
Chr10:10q23.33 |
benign|likely benign|uncertain significance |
| NM_004523.4(KIF11):c.699-7_705del |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000193886] |
Chr10:92613033..92613046 [GRCh38]
Chr10:94372790..94372803 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs) |
indel |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000192737] |
Chr10:92593375..92593377 [GRCh38]
Chr10:94353132..94353134 [GRCh37]
Chr10:10q23.33 |
pathogenic|uncertain significance |
| NM_004523.4(KIF11):c.436A>T (p.Lys146Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000193017] |
Chr10:92609068 [GRCh38]
Chr10:94368825 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.205G>A (p.Asp69Asn) |
single nucleotide variant |
Long QT syndrome [RCV000190130] |
Chr10:92606392 [GRCh38]
Chr10:94366149 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| GRCh37/hg19 10q23.33(chr10:94368870-94715405)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207241] |
Chr10:94368870..94715405 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002500752]|not provided [RCV000224738]|not specified [RCV001699160] |
Chr10:92653751 [GRCh38]
Chr10:94413508 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.2770+16A>G |
single nucleotide variant |
not provided [RCV001518235]|not specified [RCV000241624] |
Chr10:92648450 [GRCh38]
Chr10:94408207 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.309-18A>G |
single nucleotide variant |
not provided [RCV001636782]|not specified [RCV000246615] |
Chr10:92607141 [GRCh38]
Chr10:94366898 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.*19A>G |
single nucleotide variant |
not specified [RCV000242941] |
Chr10:92653815 [GRCh38]
Chr10:94413572 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1702+9A>T |
single nucleotide variant |
not provided [RCV002058166]|not specified [RCV000247910] |
Chr10:92632702 [GRCh38]
Chr10:94392459 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2153A>T (p.His718Leu) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000625370]|not provided [RCV000960918]|not specified [RCV000252882] |
Chr10:92637538 [GRCh38]
Chr10:94397295 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1702+1G>A |
single nucleotide variant |
not provided [RCV000396070] |
Chr10:92632694 [GRCh38]
Chr10:94392451 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.24_26delinsAG (p.Ala9fs) |
indel |
not provided [RCV000396435] |
Chr10:92593399..92593401 [GRCh38]
Chr10:94353156..94353158 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2914A>G (p.Thr972Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004021175]|KIF11-related disorder [RCV003930110]|not provided [RCV000941912]|not specified [RCV000294255] |
Chr10:92649978 [GRCh38]
Chr10:94409735 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000408821] |
Chr10:92645436 [GRCh38]
Chr10:94405193 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2548-90_2548-89insAAAAAAAAAAAAAAAAA |
insertion |
not provided [RCV002285679] |
Chr10:92648108..92648109 [GRCh38]
Chr10:94407865..94407866 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del) |
microsatellite |
Exudative vitreoretinopathy 1 [RCV003987579]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000787274]|not provided [RCV000523961] |
Chr10:92628878..92628880 [GRCh38]
Chr10:94388635..94388637 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|not provided |
| NM_004523.4(KIF11):c.2972dup (p.Ser992fs) |
duplication |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000585854] |
Chr10:92650449..92650450 [GRCh38]
Chr10:94410206..94410207 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1154dup (p.Leu385fs) |
duplication |
not provided [RCV000585138] |
Chr10:92621407..92621408 [GRCh38]
Chr10:94381164..94381165 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV000579126] |
Chr10:92593377 [GRCh38]
Chr10:94353134 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.388-180C>T |
single nucleotide variant |
not provided [RCV001545204] |
Chr10:92608840 [GRCh38]
Chr10:94368597 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2267+4del |
deletion |
not provided [RCV000416053] |
Chr10:92639903 [GRCh38]
Chr10:94399661 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.862_871del (p.Ile288fs) |
deletion |
Microcephaly [RCV000415366] |
Chr10:92613446..92613455 [GRCh38]
Chr10:94373203..94373212 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1040dup (p.Ser348fs) |
duplication |
not provided [RCV000413281] |
Chr10:92616743..92616744 [GRCh38]
Chr10:94376500..94376501 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000544300]|not provided [RCV003558442] |
Chr10:92639863 [GRCh38]
Chr10:94399620 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)x1 |
copy number loss |
See cases [RCV000447362] |
Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1 |
pathogenic |
| GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000431909] |
Chr10:85557432..105804295 [GRCh37]
Chr10:10q23.1-25.1 |
pathogenic|drug response |
| NM_004523.4(KIF11):c.3021C>T (p.Gly1007=) |
single nucleotide variant |
not specified [RCV000421587] |
Chr10:92650499 [GRCh38]
Chr10:94410256 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.77+1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003225941]|not provided [RCV000434727] |
Chr10:92593453 [GRCh38]
Chr10:94353210 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_004523.4(KIF11):c.2194A>T (p.Arg732Ter) |
single nucleotide variant |
not provided [RCV000483380] |
Chr10:92639827 [GRCh38]
Chr10:94399584 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.247C>T (p.Arg83Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000678377]|not provided [RCV000485224] |
Chr10:92606655 [GRCh38]
Chr10:94366412 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.2160+1G>T |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000503314] |
Chr10:92637546 [GRCh38]
Chr10:94397303 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1305G>A (p.Arg435=) |
single nucleotide variant |
not specified [RCV000503427] |
Chr10:92628895 [GRCh38]
Chr10:94388652 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2106G>T (p.Lys702Asn) |
single nucleotide variant |
not provided [RCV001306181]|not specified [RCV000501458] |
Chr10:92637491 [GRCh38]
Chr10:94397248 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2059del (p.His687fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000501841] |
Chr10:92637444 [GRCh38]
Chr10:94397201 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2922G>A (p.Pro974=) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000578314]|not provided [RCV001726201]|not specified [RCV000504431] |
Chr10:92649986 [GRCh38]
Chr10:94409743 [GRCh37]
Chr10:10q23.33 |
pathogenic|uncertain significance|no classifications from unflagged records |
| NM_004523.4(KIF11):c.112del (p.His38fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000501993] |
Chr10:92606297 [GRCh38]
Chr10:94366054 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2044C>G (p.Leu682Val) |
single nucleotide variant |
KIF11-related disorder [RCV004752921]|not provided [RCV000925703]|not specified [RCV000499846] |
Chr10:92637429 [GRCh38]
Chr10:94397186 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.690A>G (p.Ala230=) |
single nucleotide variant |
not provided [RCV000975427]|not specified [RCV000499965] |
Chr10:92609501 [GRCh38]
Chr10:94369258 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.868C>T (p.Gln290Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000500129] |
Chr10:92613455 [GRCh38]
Chr10:94373212 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2548-1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000502364] |
Chr10:92648211 [GRCh38]
Chr10:94407968 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2512A>C (p.Asn838His) |
single nucleotide variant |
Inborn genetic diseases [RCV002524209]|KIF11-related disorder [RCV003915380]|not provided [RCV000913658]|not specified [RCV000500253] |
Chr10:92645607 [GRCh38]
Chr10:94405364 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1677G>A (p.Met559Ile) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000660443]|not provided [RCV001318091]|not specified [RCV000500399] |
Chr10:92632668 [GRCh38]
Chr10:94392425 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2562T>C (p.Cys854=) |
single nucleotide variant |
not provided [RCV002060120]|not specified [RCV000502937] |
Chr10:92648226 [GRCh38]
Chr10:94407983 [GRCh37]
Chr10:10q23.33 |
likely benign |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 |
copy number gain |
See cases [RCV000510972] |
Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3 |
pathogenic |
| GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1 |
copy number loss |
See cases [RCV000511278] |
Chr10:93186527..95820286 [GRCh37]
Chr10:10q23.32-23.33 |
pathogenic |
| NM_004523.4(KIF11):c.139C>T (p.Arg47Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255733]|not provided [RCV000578602] |
Chr10:92606326 [GRCh38]
Chr10:94366083 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.274G>T (p.Glu92Ter) |
single nucleotide variant |
not provided [RCV000579121] |
Chr10:92606682 [GRCh38]
Chr10:94366439 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2697_2700del (p.Asn899fs) |
deletion |
Inborn genetic diseases [RCV000623040] |
Chr10:92648359..92648362 [GRCh38]
Chr10:94408116..94408119 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2273C>A (p.Ser758Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003273516] |
Chr10:92645368 [GRCh38]
Chr10:94405125 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1 |
copy number loss |
See cases [RCV000512315] |
Chr10:93908171..101809723 [GRCh37]
Chr10:10q23.32-24.2 |
pathogenic |
| GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3 |
drug response |
| NM_004523.4(KIF11):c.355del (p.Arg119fs) |
deletion |
not provided [RCV000657539] |
Chr10:92607203 [GRCh38]
Chr10:94366960 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 |
copy number gain |
not provided [RCV000683291] |
Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3 |
pathogenic |
| NM_004523.4(KIF11):c.478_479del (p.Leu160fs) |
microsatellite |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001002700] |
Chr10:92609107..92609108 [GRCh38]
Chr10:94368864..94368865 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1876-152C>A |
single nucleotide variant |
not provided [RCV001547558] |
Chr10:92637032 [GRCh38]
Chr10:94396789 [GRCh37]
Chr10:10q23.33 |
likely benign |
| GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_004523.4(KIF11):c.2267+5G>C |
single nucleotide variant |
not provided [RCV001531071] |
Chr10:92639905 [GRCh38]
Chr10:94399662 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.309-81G>T |
single nucleotide variant |
not provided [RCV001669264] |
Chr10:92607078 [GRCh38]
Chr10:94366835 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-81GT[14] |
microsatellite |
not provided [RCV001608745] |
Chr10:92609304..92609315 [GRCh38]
Chr10:94369061..94369072 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.573+88_574-77del |
deletion |
not provided [RCV001640797] |
Chr10:92609292..92609307 [GRCh38]
Chr10:94369049..94369064 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1823T>C (p.Leu608Pro) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001591751] |
Chr10:92633743 [GRCh38]
Chr10:94393500 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2932_2933dup (p.Val978_Glu979insTer) |
duplication |
Retinitis pigmentosa [RCV001724869] |
Chr10:92650408..92650409 [GRCh38]
Chr10:94410165..94410166 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.790-36T>C |
single nucleotide variant |
not provided [RCV001584878] |
Chr10:92613341 [GRCh38]
Chr10:94373098 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.698+250G>C |
single nucleotide variant |
not provided [RCV001612528] |
Chr10:92609759 [GRCh38]
Chr10:94369516 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-84_574-73del |
deletion |
not provided [RCV001584651] |
Chr10:92609300..92609311 [GRCh38]
Chr10:94369057..94369068 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1875+78T>G |
single nucleotide variant |
not provided [RCV001667589] |
Chr10:92633873 [GRCh38]
Chr10:94393630 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.573+90_574-77del |
deletion |
not provided [RCV001545059] |
Chr10:92609294..92609307 [GRCh38]
Chr10:94369051..94369064 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.573+62AG[15] |
microsatellite |
not provided [RCV001725098] |
Chr10:92609267..92609274 [GRCh38]
Chr10:94369024..94369031 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2268-296C>T |
single nucleotide variant |
not provided [RCV001612775] |
Chr10:92645067 [GRCh38]
Chr10:94404824 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.77G>T (p.Arg26Ile) |
single nucleotide variant |
not provided [RCV000761738] |
Chr10:92593452 [GRCh38]
Chr10:94353209 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.164G>C (p.Gly55Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003244107] |
Chr10:92606351 [GRCh38]
Chr10:94366108 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2547+249A>G |
single nucleotide variant |
not provided [RCV001576692] |
Chr10:92645891 [GRCh38]
Chr10:94405648 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2494C>T (p.Gln832Ter) |
single nucleotide variant |
not provided [RCV001053797] |
Chr10:92645589 [GRCh38]
Chr10:94405346 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.77+69G>T |
single nucleotide variant |
not provided [RCV001679878] |
Chr10:92593521 [GRCh38]
Chr10:94353278 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.-215A>G |
single nucleotide variant |
not provided [RCV001693445] |
Chr10:92593161 [GRCh38]
Chr10:94352918 [GRCh37]
Chr10:10q23.33 |
benign |
| NC_000010.11:g.92592990C>G |
single nucleotide variant |
not provided [RCV001569477] |
Chr10:92592990 [GRCh38]
Chr10:94352747 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.211-17_211-16dup |
duplication |
not provided [RCV001577040] |
Chr10:92606590..92606591 [GRCh38]
Chr10:94366347..94366348 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1305+147G>A |
single nucleotide variant |
not provided [RCV001545819] |
Chr10:92629042 [GRCh38]
Chr10:94388799 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2664A>G (p.Glu888=) |
single nucleotide variant |
KIF11-related disorder [RCV004753121]|not provided [RCV000925704] |
Chr10:92648328 [GRCh38]
Chr10:94408085 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1706A>G (p.Asn569Ser) |
single nucleotide variant |
KIF11-related disorder [RCV003978213]|not provided [RCV000950433] |
Chr10:92633626 [GRCh38]
Chr10:94393383 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1578C>A (p.His526Gln) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002503044]|not provided [RCV000967853] |
Chr10:92632569 [GRCh38]
Chr10:94392326 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.2372C>G (p.Thr791Arg) |
single nucleotide variant |
Retinal dystrophy [RCV001075226] |
Chr10:92645467 [GRCh38]
Chr10:94405224 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1305+1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000995792] |
Chr10:92628896 [GRCh38]
Chr10:94388653 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2434_2438del (p.Ser812fs) |
deletion |
Retinal dystrophy [RCV001075451]|not provided [RCV001052185] |
Chr10:92645528..92645532 [GRCh38]
Chr10:94405285..94405289 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.2729dup (p.Asn910fs) |
duplication |
Retinal dystrophy [RCV001074664] |
Chr10:92648391..92648392 [GRCh38]
Chr10:94408148..94408149 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175) |
copy number loss |
not provided [RCV000767566] |
Chr10:94393383..97219175 [GRCh37]
Chr10:10q23.33-24.1 |
likely pathogenic |
| NC_000010.11:g.(?_92609020)_(92609509_?)del |
deletion |
not provided [RCV000816629] |
Chr10:92609020..92609509 [GRCh38]
Chr10:94368777..94369266 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2548-8A>G |
single nucleotide variant |
not provided [RCV000926207] |
Chr10:92648204 [GRCh38]
Chr10:94407961 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.180G>A (p.Lys60=) |
single nucleotide variant |
not provided [RCV000936755] |
Chr10:92606367 [GRCh38]
Chr10:94366124 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2130C>T (p.Asp710=) |
single nucleotide variant |
not provided [RCV000897516] |
Chr10:92637515 [GRCh38]
Chr10:94397272 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1752A>G (p.Val584=) |
single nucleotide variant |
not provided [RCV000982557] |
Chr10:92633672 [GRCh38]
Chr10:94393429 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1996G>A (p.Asp666Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002540215]|not provided [RCV000902514] |
Chr10:92637304 [GRCh38]
Chr10:94397061 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1924C>G (p.Pro642Ala) |
single nucleotide variant |
not provided [RCV000915477] |
Chr10:92637232 [GRCh38]
Chr10:94396989 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2952G>A (p.Gly984=) |
single nucleotide variant |
KIF11-related disorder [RCV003933200]|not provided [RCV000938449] |
Chr10:92650430 [GRCh38]
Chr10:94410187 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.480G>T (p.Leu160=) |
single nucleotide variant |
not provided [RCV000980078] |
Chr10:92609112 [GRCh38]
Chr10:94368869 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.117A>G (p.Ser39=) |
single nucleotide variant |
not provided [RCV000894198] |
Chr10:92606304 [GRCh38]
Chr10:94366061 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.349G>T (p.Gly117Cys) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001029789] |
Chr10:92607199 [GRCh38]
Chr10:94366956 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1634T>C (p.Met545Thr) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000825016] |
Chr10:92632625 [GRCh38]
Chr10:94392382 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2166T>G (p.Leu722=) |
single nucleotide variant |
not provided [RCV000914552]|not specified [RCV001701358] |
Chr10:92639799 [GRCh38]
Chr10:94399556 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1145T>C (p.Ile382Thr) |
single nucleotide variant |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome [RCV001838339]|not provided [RCV000994477] |
Chr10:92621401 [GRCh38]
Chr10:94381158 [GRCh37]
Chr10:10q23.33 |
likely pathogenic|uncertain significance |
| NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV000988434] |
Chr10:92649846 [GRCh38]
Chr10:94409603 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1107C>G (p.Leu369=) |
single nucleotide variant |
not provided [RCV000941911] |
Chr10:92616811 [GRCh38]
Chr10:94376568 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.994A>G (p.Ile332Val) |
single nucleotide variant |
not provided [RCV001058394] |
Chr10:92613581 [GRCh38]
Chr10:94373338 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2774C>T (p.Thr925Met) |
single nucleotide variant |
not provided [RCV001061686] |
Chr10:92649838 [GRCh38]
Chr10:94409595 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1280del (p.Gly427fs) |
deletion |
not provided [RCV001008939] |
Chr10:92628869 [GRCh38]
Chr10:94388626 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.1383T>G (p.Leu461=) |
single nucleotide variant |
not provided [RCV000891985] |
Chr10:92630253 [GRCh38]
Chr10:94390010 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.2649del (p.Gln883_Met884insTer) |
deletion |
not provided [RCV001008045] |
Chr10:92648313 [GRCh38]
Chr10:94408070 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1780G>C (p.Glu594Gln) |
single nucleotide variant |
not provided [RCV001205852] |
Chr10:92633700 [GRCh38]
Chr10:94393457 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.418C>T (p.Leu140Phe) |
single nucleotide variant |
not provided [RCV001208532] |
Chr10:92609050 [GRCh38]
Chr10:94368807 [GRCh37]
Chr10:10q23.33 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_004523.4(KIF11):c.979C>T (p.Arg327Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003163587]|not provided [RCV001209310] |
Chr10:92613566 [GRCh38]
Chr10:94373323 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1937C>A (p.Ser646Tyr) |
single nucleotide variant |
not provided [RCV001242675] |
Chr10:92637245 [GRCh38]
Chr10:94397002 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.102dup (p.Ala35fs) |
duplication |
not provided [RCV001225145] |
Chr10:92606286..92606287 [GRCh38]
Chr10:94366043..94366044 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2660A>G (p.Asp887Gly) |
single nucleotide variant |
not provided [RCV001238368] |
Chr10:92648324 [GRCh38]
Chr10:94408081 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1643T>G (p.Leu548Ter) |
single nucleotide variant |
not provided [RCV001246704] |
Chr10:92632634 [GRCh38]
Chr10:94392391 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1914G>T (p.Met638Ile) |
single nucleotide variant |
not provided [RCV001212344] |
Chr10:92637222 [GRCh38]
Chr10:94396979 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1451C>T (p.Ala484Val) |
single nucleotide variant |
not provided [RCV001226198] |
Chr10:92630321 [GRCh38]
Chr10:94390078 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2449C>T (p.Gln817Ter) |
single nucleotide variant |
not provided [RCV001230983] |
Chr10:92645544 [GRCh38]
Chr10:94405301 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.397G>A (p.Ala133Thr) |
single nucleotide variant |
not provided [RCV003318048] |
Chr10:92609029 [GRCh38]
Chr10:94368786 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1889C>T (p.Thr630Ile) |
single nucleotide variant |
not provided [RCV001212368] |
Chr10:92637197 [GRCh38]
Chr10:94396954 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2312_2313del (p.Lys771fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001198017] |
Chr10:92645404..92645405 [GRCh38]
Chr10:94405161..94405162 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.487A>G (p.Ile163Val) |
single nucleotide variant |
Developmental disorder [RCV003127308] |
Chr10:92609119 [GRCh38]
Chr10:94368876 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2268-297C>T |
single nucleotide variant |
not provided [RCV001581632] |
Chr10:92645066 [GRCh38]
Chr10:94404823 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.387+259G>T |
single nucleotide variant |
not provided [RCV001569457] |
Chr10:92607496 [GRCh38]
Chr10:94367253 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2268-293G>A |
single nucleotide variant |
not provided [RCV001551239] |
Chr10:92645070 [GRCh38]
Chr10:94404827 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.439del (p.Thr148fs) |
deletion |
not provided [RCV001574236] |
Chr10:92609071 [GRCh38]
Chr10:94368828 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.308+14T>A |
single nucleotide variant |
not specified [RCV003317863] |
Chr10:92606730 [GRCh38]
Chr10:94366487 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.308+125G>A |
single nucleotide variant |
not provided [RCV001638618] |
Chr10:92606841 [GRCh38]
Chr10:94366598 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1702+65_1702+69dup |
duplication |
not provided [RCV001635738] |
Chr10:92632756..92632757 [GRCh38]
Chr10:94392513..94392514 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-86_574-73del |
deletion |
not provided [RCV001560287] |
Chr10:92609298..92609311 [GRCh38]
Chr10:94369055..94369068 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.387+39A>G |
single nucleotide variant |
not provided [RCV001638672] |
Chr10:92607276 [GRCh38]
Chr10:94367033 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-82_574-67del |
deletion |
not provided [RCV001560829] |
Chr10:92609302..92609317 [GRCh38]
Chr10:94369059..94369074 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.574-84_574-75del |
deletion |
not provided [RCV001715822] |
Chr10:92609300..92609309 [GRCh38]
Chr10:94369057..94369066 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1033-166C>A |
single nucleotide variant |
not provided [RCV001723144] |
Chr10:92616571 [GRCh38]
Chr10:94376328 [GRCh37]
Chr10:10q23.33 |
benign |
| NC_000010.11:g.92592979A>G |
single nucleotide variant |
not provided [RCV001598823] |
Chr10:92592979 [GRCh38]
Chr10:94352736 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2770+217T>C |
single nucleotide variant |
not provided [RCV001681256] |
Chr10:92648651 [GRCh38]
Chr10:94408408 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-88_574-73del |
deletion |
not provided [RCV001561630] |
Chr10:92609296..92609311 [GRCh38]
Chr10:94369053..94369068 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1876-327A>G |
single nucleotide variant |
not provided [RCV001696021] |
Chr10:92636857 [GRCh38]
Chr10:94396614 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.698+249C>T |
single nucleotide variant |
not provided [RCV001668836] |
Chr10:92609758 [GRCh38]
Chr10:94369515 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.790-36T>A |
single nucleotide variant |
not provided [RCV001584679] |
Chr10:92613341 [GRCh38]
Chr10:94373098 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.573+88_574-79del |
deletion |
not provided [RCV001551306] |
Chr10:92609292..92609305 [GRCh38]
Chr10:94369049..94369062 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.573+84_574-79del |
deletion |
not provided [RCV001577487] |
Chr10:92609288..92609305 [GRCh38]
Chr10:94369045..94369062 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.387+236A>G |
single nucleotide variant |
not provided [RCV001676339] |
Chr10:92607473 [GRCh38]
Chr10:94367230 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2547+327del |
deletion |
not provided [RCV001616520] |
Chr10:92645951 [GRCh38]
Chr10:94405708 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1217+107C>T |
single nucleotide variant |
not provided [RCV001589523] |
Chr10:92621580 [GRCh38]
Chr10:94381337 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2547+326_2547+327del |
deletion |
not provided [RCV001643248] |
Chr10:92645951..92645952 [GRCh38]
Chr10:94405708..94405709 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.573+88_574-75del |
deletion |
not provided [RCV001557821] |
Chr10:92609292..92609309 [GRCh38]
Chr10:94369049..94369066 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NC_000010.11:g.92593066C>G |
single nucleotide variant |
not provided [RCV001716344] |
Chr10:92593066 [GRCh38]
Chr10:94352823 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1305+189G>A |
single nucleotide variant |
not provided [RCV001656515] |
Chr10:92629084 [GRCh38]
Chr10:94388841 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.210+59A>G |
single nucleotide variant |
not provided [RCV001558121] |
Chr10:92606456 [GRCh38]
Chr10:94366213 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.699-289A>G |
single nucleotide variant |
not provided [RCV001590899] |
Chr10:92612751 [GRCh38]
Chr10:94372508 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.574-81GT[15] |
microsatellite |
not provided [RCV001559815] |
Chr10:92609304..92609313 [GRCh38]
Chr10:94369061..94369070 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2775G>A (p.Thr925=) |
single nucleotide variant |
not provided [RCV000886500]|not specified [RCV001818635] |
Chr10:92649839 [GRCh38]
Chr10:94409596 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1309A>G (p.Thr437Ala) |
single nucleotide variant |
KIF11-related disorder [RCV003925962]|not provided [RCV000952951] |
Chr10:92630179 [GRCh38]
Chr10:94389936 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.574-5G>T |
single nucleotide variant |
Inborn genetic diseases [RCV002544978]|not provided [RCV000925514] |
Chr10:92609380 [GRCh38]
Chr10:94369137 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.77+5G>C |
single nucleotide variant |
KIF11-related disorder [RCV003912865]|Neutropenia [RCV002227504]|not provided [RCV000901014]|not specified [RCV001818747] |
Chr10:92593457 [GRCh38]
Chr10:94353214 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1797T>C (p.His599=) |
single nucleotide variant |
not provided [RCV000980370] |
Chr10:92633717 [GRCh38]
Chr10:94393474 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1806G>A (p.Gln602=) |
single nucleotide variant |
not provided [RCV000953303] |
Chr10:92633726 [GRCh38]
Chr10:94393483 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.648G>A (p.Lys216=) |
single nucleotide variant |
not provided [RCV000926753] |
Chr10:92609459 [GRCh38]
Chr10:94369216 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1306-7T>A |
single nucleotide variant |
not provided [RCV000910901] |
Chr10:92630169 [GRCh38]
Chr10:94389926 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.108C>T (p.Ser36=) |
single nucleotide variant |
not provided [RCV000898459] |
Chr10:92606295 [GRCh38]
Chr10:94366052 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1157A>G (p.Lys386Arg) |
single nucleotide variant |
not provided [RCV001242787] |
Chr10:92621413 [GRCh38]
Chr10:94381170 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2237C>G (p.Pro746Arg) |
single nucleotide variant |
not provided [RCV001248309] |
Chr10:92639870 [GRCh38]
Chr10:94399627 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2059C>T (p.His687Tyr) |
single nucleotide variant |
not provided [RCV001232058] |
Chr10:92637444 [GRCh38]
Chr10:94397201 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.746C>T (p.Thr249Met) |
single nucleotide variant |
not provided [RCV001227724] |
Chr10:92613087 [GRCh38]
Chr10:94372844 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1198A>G (p.Ile400Val) |
single nucleotide variant |
not provided [RCV001245484] |
Chr10:92621454 [GRCh38]
Chr10:94381211 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2372C>T (p.Thr791Ile) |
single nucleotide variant |
not provided [RCV001054499] |
Chr10:92645467 [GRCh38]
Chr10:94405224 [GRCh37]
Chr10:10q23.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NC_000010.11:g.(?_92621385)_(92645642_?)del |
deletion |
not provided [RCV001031190] |
Chr10:94381142..94405399 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.193A>G (p.Thr65Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002563892]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001331252]|not provided [RCV001237555]|not specified [RCV001819934] |
Chr10:92606380 [GRCh38]
Chr10:94366137 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1816A>G (p.Met606Val) |
single nucleotide variant |
not provided [RCV001227365] |
Chr10:92633736 [GRCh38]
Chr10:94393493 [GRCh37]
Chr10:10q23.33 |
benign|uncertain significance |
| NM_004523.4(KIF11):c.2306G>A (p.Ser769Asn) |
single nucleotide variant |
not provided [RCV001210242] |
Chr10:92645401 [GRCh38]
Chr10:94405158 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1344C>T (p.Asp448=) |
single nucleotide variant |
not provided [RCV000935826] |
Chr10:92630214 [GRCh38]
Chr10:94389971 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.567T>C (p.Arg189=) |
single nucleotide variant |
not provided [RCV000935967] |
Chr10:92609199 [GRCh38]
Chr10:94368956 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1122T>C (p.Leu374=) |
single nucleotide variant |
not provided [RCV000911800] |
Chr10:92616826 [GRCh38]
Chr10:94376583 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-122T>A |
single nucleotide variant |
not provided [RCV001556894] |
Chr10:92608898 [GRCh38]
Chr10:94368655 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.574-86_574-79del |
deletion |
not provided [RCV001562369] |
Chr10:92609298..92609305 [GRCh38]
Chr10:94369055..94369062 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2775_2777delinsATTAATGTCCGTTAAAGGT (p.Thr926fs) |
indel |
not provided [RCV001562478] |
Chr10:92649839..92649841 [GRCh38]
Chr10:94409596..94409598 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.573+62AG[14] |
microsatellite |
not provided [RCV001657059] |
Chr10:92609267..92609276 [GRCh38]
Chr10:94369024..94369033 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1033-207C>G |
single nucleotide variant |
not provided [RCV001558018] |
Chr10:92616530 [GRCh38]
Chr10:94376287 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.573+62AG[13] |
microsatellite |
not provided [RCV001593829] |
Chr10:92609267..92609278 [GRCh38]
Chr10:94369024..94369035 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2548-90del |
deletion |
not provided [RCV001595711] |
Chr10:92648109 [GRCh38]
Chr10:94407866 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.573+62AG[16] |
microsatellite |
not provided [RCV001555135] |
Chr10:92609267..92609272 [GRCh38]
Chr10:94369024..94369029 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.789+55T>C |
single nucleotide variant |
not provided [RCV001715827] |
Chr10:92613185 [GRCh38]
Chr10:94372942 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.388-189T>C |
single nucleotide variant |
not provided [RCV001599165] |
Chr10:92608831 [GRCh38]
Chr10:94368588 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.308+152C>T |
single nucleotide variant |
not provided [RCV001674508] |
Chr10:92606868 [GRCh38]
Chr10:94366625 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2548-112C>T |
single nucleotide variant |
not provided [RCV001639623] |
Chr10:92648100 [GRCh38]
Chr10:94407857 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.388-120T>G |
single nucleotide variant |
not provided [RCV001540047] |
Chr10:92608900 [GRCh38]
Chr10:94368657 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.699-244A>T |
single nucleotide variant |
not provided [RCV001616368] |
Chr10:92612796 [GRCh38]
Chr10:94372553 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1128+35_1128+37del |
deletion |
not provided [RCV001719259] |
Chr10:92616865..92616867 [GRCh38]
Chr10:94376622..94376624 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1875+233T>C |
single nucleotide variant |
not provided [RCV001639418] |
Chr10:92634028 [GRCh38]
Chr10:94393785 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1876-131del |
deletion |
not provided [RCV001719229] |
Chr10:92637033 [GRCh38]
Chr10:94396790 [GRCh37]
Chr10:10q23.33 |
benign |
| NC_000010.11:g.92592748A>T |
single nucleotide variant |
not provided [RCV001673387] |
Chr10:92592748 [GRCh38]
Chr10:94352505 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2922G>T (p.Pro974=) |
single nucleotide variant |
Microcephaly [RCV001720283] |
Chr10:92649986 [GRCh38]
Chr10:94409743 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.78-281A>G |
single nucleotide variant |
not provided [RCV001617156] |
Chr10:92605984 [GRCh38]
Chr10:94365741 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1876-132_1876-131del |
deletion |
not provided [RCV001676212] |
Chr10:92637033..92637034 [GRCh38]
Chr10:94396790..94396791 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1033-37A>G |
single nucleotide variant |
not provided [RCV001721894] |
Chr10:92616700 [GRCh38]
Chr10:94376457 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1129-49T>C |
single nucleotide variant |
not provided [RCV001721896] |
Chr10:92621336 [GRCh38]
Chr10:94381093 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-83_574-82insTG |
insertion |
not provided [RCV001565356] |
Chr10:92609301..92609302 [GRCh38]
Chr10:94369058..94369059 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1876-131dup |
duplication |
not provided [RCV001674177] |
Chr10:92637032..92637033 [GRCh38]
Chr10:94396789..94396790 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1628A>G (p.Asn543Ser) |
single nucleotide variant |
Intellectual disability [RCV001252290] |
Chr10:92632619 [GRCh38]
Chr10:94392376 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.120A>G (p.Ile40Met) |
single nucleotide variant |
not provided [RCV001067415] |
Chr10:92606307 [GRCh38]
Chr10:94366064 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1116dup (p.Ala373fs) |
duplication |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001007655] |
Chr10:92616814..92616815 [GRCh38]
Chr10:94376571..94376572 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2802C>G (p.Tyr934Ter) |
single nucleotide variant |
not provided [RCV001093413] |
Chr10:92649866 [GRCh38]
Chr10:94409623 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1177del (p.Arg393fs) |
deletion |
not provided [RCV001092605] |
Chr10:92621431 [GRCh38]
Chr10:94381188 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.381G>A (p.Trp127Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001030780]|Syndromic retinitis pigmentosa [RCV001003069] |
Chr10:92607231 [GRCh38]
Chr10:94366988 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.388-121G>T |
single nucleotide variant |
not provided [RCV001669075] |
Chr10:92608899 [GRCh38]
Chr10:94368656 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1218-54A>G |
single nucleotide variant |
not provided [RCV001684997] |
Chr10:92628754 [GRCh38]
Chr10:94388511 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.*114G>A |
single nucleotide variant |
not provided [RCV001615462] |
Chr10:92653910 [GRCh38]
Chr10:94413667 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2548-95_2548-90dup |
duplication |
not provided [RCV001652124] |
Chr10:92648108..92648109 [GRCh38]
Chr10:94407865..94407866 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.77+229T>C |
single nucleotide variant |
not provided [RCV001680106] |
Chr10:92593681 [GRCh38]
Chr10:94353438 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.698+322G>T |
single nucleotide variant |
not provided [RCV001724466] |
Chr10:92609831 [GRCh38]
Chr10:94369588 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1217+124TG[18] |
microsatellite |
not provided [RCV001707249] |
Chr10:92621596..92621597 [GRCh38]
Chr10:94381353..94381354 [GRCh37]
Chr10:10q23.33 |
benign |
| NC_000010.11:g.92592861C>T |
single nucleotide variant |
not provided [RCV001708781] |
Chr10:92592861 [GRCh38]
Chr10:94352618 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1217+124TG[17] |
microsatellite |
not provided [RCV001650233] |
Chr10:92621596..92621597 [GRCh38]
Chr10:94381353..94381354 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.211-16dup |
duplication |
not provided [RCV001680387] |
Chr10:92606590..92606591 [GRCh38]
Chr10:94366347..94366348 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-82_574-73del |
deletion |
not provided [RCV001612334] |
Chr10:92609302..92609311 [GRCh38]
Chr10:94369059..94369068 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1217+279C>A |
single nucleotide variant |
not provided [RCV001681343] |
Chr10:92621752 [GRCh38]
Chr10:94381509 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.3040-42G>A |
single nucleotide variant |
not provided [RCV001671964] |
Chr10:92653623 [GRCh38]
Chr10:94413380 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1875+139_1875+142del |
deletion |
not provided [RCV001725426] |
Chr10:92633932..92633935 [GRCh38]
Chr10:94393689..94393692 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.699-91A>G |
single nucleotide variant |
not provided [RCV001651591] |
Chr10:92612949 [GRCh38]
Chr10:94372706 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2656A>G (p.Ile886Val) |
single nucleotide variant |
not provided [RCV001058992] |
Chr10:92648320 [GRCh38]
Chr10:94408077 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2316T>G (p.Phe772Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003373030]|not provided [RCV001207342] |
Chr10:92645411 [GRCh38]
Chr10:94405168 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NC_000010.11:g.(?_92483255)_(92632693_?)dup |
duplication |
not provided [RCV001033391] |
Chr10:94243012..94392450 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1134T>G (p.Tyr378Ter) |
single nucleotide variant |
Retinal dystrophy [RCV001074293] |
Chr10:92621390 [GRCh38]
Chr10:94381147 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.749T>C (p.Ile250Thr) |
single nucleotide variant |
not provided [RCV001042625] |
Chr10:92613090 [GRCh38]
Chr10:94372847 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1617T>C (p.Asn539=) |
single nucleotide variant |
not provided [RCV001045845] |
Chr10:92632608 [GRCh38]
Chr10:94392365 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1217+14_1217+283del |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001196222]|not provided [RCV002069278] |
Chr10:92621486..92621755 [GRCh38]
Chr10:94381243..94381512 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.573+4A>G |
single nucleotide variant |
not provided [RCV001233765] |
Chr10:92609209 [GRCh38]
Chr10:94368966 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1285G>T (p.Val429Phe) |
single nucleotide variant |
not provided [RCV001065963] |
Chr10:92628875 [GRCh38]
Chr10:94388632 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2549T>C (p.Val850Ala) |
single nucleotide variant |
not provided [RCV001035637] |
Chr10:92648213 [GRCh38]
Chr10:94407970 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2043A>G (p.Ile681Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004034899]|not provided [RCV001247595] |
Chr10:92637428 [GRCh38]
Chr10:94397185 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2836C>T (p.His946Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004030748]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003483777]|not provided [RCV001070417]|not specified [RCV003387962] |
Chr10:92649900 [GRCh38]
Chr10:94409657 [GRCh37]
Chr10:10q23.33 |
uncertain significance|not provided |
| NM_004523.4(KIF11):c.2018del (p.Lys673fs) |
deletion |
not provided [RCV001009200] |
Chr10:92637397 [GRCh38]
Chr10:94397154 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.388-1G>C |
single nucleotide variant |
KIF11-related disorder [RCV003396636]|not provided [RCV001039008] |
Chr10:92609019 [GRCh38]
Chr10:94368776 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1033-3C>T |
single nucleotide variant |
not provided [RCV001231320] |
Chr10:92616734 [GRCh38]
Chr10:94376491 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2942C>T (p.Ala981Val) |
single nucleotide variant |
not provided [RCV001232933] |
Chr10:92650420 [GRCh38]
Chr10:94410177 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.308+1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255779]|not provided [RCV001879940] |
Chr10:92606717 [GRCh38]
Chr10:94366474 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1A>G (p.Met1Val) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255743]|not provided [RCV001377705] |
Chr10:92593376 [GRCh38]
Chr10:94353133 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs) |
deletion |
Microcephaly and chorioretinopathy 1 [RCV001527631]|Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255840] |
Chr10:92645606..92645610 [GRCh38]
Chr10:94405363..94405367 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.2268-1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255834] |
Chr10:92645362 [GRCh38]
Chr10:94405119 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.587_590del (p.Ile196fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255842] |
Chr10:92609395..92609398 [GRCh38]
Chr10:94369152..94369155 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2545G>T (p.Glu849Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255829] |
Chr10:92645640 [GRCh38]
Chr10:94405397 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2771-221A>C |
single nucleotide variant |
not provided [RCV001581078] |
Chr10:92649614 [GRCh38]
Chr10:94409371 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2458G>T (p.Glu820Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255729] |
Chr10:92645553 [GRCh38]
Chr10:94405310 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.529del (p.Asp177fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001255789] |
Chr10:92609161 [GRCh38]
Chr10:94368918 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.733A>G (p.Met245Val) |
single nucleotide variant |
not provided [RCV001312558] |
Chr10:92613074 [GRCh38]
Chr10:94372831 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.863T>C (p.Ile288Thr) |
single nucleotide variant |
not provided [RCV001964311] |
Chr10:92613450 [GRCh38]
Chr10:94373207 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1580A>T (p.Asn527Ile) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001261950] |
Chr10:92632571 [GRCh38]
Chr10:94392328 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2018A>T (p.Lys673Met) |
single nucleotide variant |
Intellectual disability [RCV001281449]|not provided [RCV001366660] |
Chr10:92637403 [GRCh38]
Chr10:94397160 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2524C>A (p.Gln842Lys) |
single nucleotide variant |
not provided [RCV001297800] |
Chr10:92645619 [GRCh38]
Chr10:94405376 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.308+6T>C |
single nucleotide variant |
not provided [RCV001295282] |
Chr10:92606722 [GRCh38]
Chr10:94366479 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1253A>G (p.Gln418Arg) |
single nucleotide variant |
not provided [RCV001301533] |
Chr10:92628843 [GRCh38]
Chr10:94388600 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.26C>G (p.Ala9Gly) |
single nucleotide variant |
not provided [RCV001325601] |
Chr10:92593401 [GRCh38]
Chr10:94353158 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.779A>G (p.Lys260Arg) |
single nucleotide variant |
not provided [RCV001327798] |
Chr10:92613120 [GRCh38]
Chr10:94372877 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3077G>T (p.Gly1026Val) |
single nucleotide variant |
not provided [RCV001296439] |
Chr10:92653702 [GRCh38]
Chr10:94413459 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1268T>C (p.Ile423Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002546219]|not provided [RCV001327309] |
Chr10:92628858 [GRCh38]
Chr10:94388615 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.895A>G (p.Ile299Val) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001283810] |
Chr10:92613482 [GRCh38]
Chr10:94373239 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.3095G>A (p.Arg1032Lys) |
single nucleotide variant |
not provided [RCV001350442] |
Chr10:92653720 [GRCh38]
Chr10:94413477 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2922+4A>C |
single nucleotide variant |
not provided [RCV001300449] |
Chr10:92649990 [GRCh38]
Chr10:94409747 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2298T>G (p.Thr766=) |
single nucleotide variant |
not provided [RCV001414702] |
Chr10:92645393 [GRCh38]
Chr10:94405150 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.747G>A (p.Thr249=) |
single nucleotide variant |
not provided [RCV001396520] |
Chr10:92613088 [GRCh38]
Chr10:94372845 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2267+18T>A |
single nucleotide variant |
not provided [RCV001422333] |
Chr10:92639918 [GRCh38]
Chr10:94399675 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2151C>T (p.Thr717=) |
single nucleotide variant |
not provided [RCV001414598] |
Chr10:92637536 [GRCh38]
Chr10:94397293 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1129-9C>G |
single nucleotide variant |
not provided [RCV001298415] |
Chr10:92621376 [GRCh38]
Chr10:94381133 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2475A>G (p.Arg825=) |
single nucleotide variant |
not provided [RCV001423065] |
Chr10:92645570 [GRCh38]
Chr10:94405327 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1289A>C (p.Glu430Ala) |
single nucleotide variant |
not provided [RCV001415289] |
Chr10:92628879 [GRCh38]
Chr10:94388636 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.665C>T (p.Thr222Ile) |
single nucleotide variant |
not provided [RCV001371752] |
Chr10:92609476 [GRCh38]
Chr10:94369233 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.211-6C>T |
single nucleotide variant |
not provided [RCV001397110] |
Chr10:92606613 [GRCh38]
Chr10:94366370 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.957C>G (p.Ile319Met) |
single nucleotide variant |
not provided [RCV001350090] |
Chr10:92613544 [GRCh38]
Chr10:94373301 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1217+124TG[19] |
microsatellite |
not provided [RCV001581483] |
Chr10:92621596..92621597 [GRCh38]
Chr10:94381353..94381354 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2605C>T (p.Arg869Cys) |
single nucleotide variant |
not provided [RCV001321473] |
Chr10:92648269 [GRCh38]
Chr10:94408026 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2150C>A (p.Thr717Asn) |
single nucleotide variant |
not provided [RCV001322807] |
Chr10:92637535 [GRCh38]
Chr10:94397292 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1200T>G (p.Ile400Met) |
single nucleotide variant |
not provided [RCV001322878] |
Chr10:92621456 [GRCh38]
Chr10:94381213 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1012C>G (p.Pro338Ala) |
single nucleotide variant |
not provided [RCV001349217] |
Chr10:92613599 [GRCh38]
Chr10:94373356 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1402T>G (p.Leu468Val) |
single nucleotide variant |
not provided [RCV001301750] |
Chr10:92630272 [GRCh38]
Chr10:94390029 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NC_000010.10:g.(?_94381122)_(94405419_?)del |
deletion |
not provided [RCV001323166] |
Chr10:94381122..94405419 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.907G>A (p.Val303Ile) |
single nucleotide variant |
not provided [RCV001342519] |
Chr10:92613494 [GRCh38]
Chr10:94373251 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.585A>G (p.Ile195Met) |
single nucleotide variant |
not provided [RCV002284663] |
Chr10:92609396 [GRCh38]
Chr10:94369153 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.455C>T (p.Thr152Ile) |
single nucleotide variant |
not provided [RCV001372409]|not specified [RCV001820075] |
Chr10:92609087 [GRCh38]
Chr10:94368844 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2833G>A (p.Glu945Lys) |
single nucleotide variant |
not provided [RCV001317850] |
Chr10:92649897 [GRCh38]
Chr10:94409654 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2434T>G (p.Ser812Ala) |
single nucleotide variant |
not provided [RCV001361652] |
Chr10:92645529 [GRCh38]
Chr10:94405286 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2719A>T (p.Thr907Ser) |
single nucleotide variant |
not provided [RCV001369587] |
Chr10:92648383 [GRCh38]
Chr10:94408140 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.574-3C>A |
single nucleotide variant |
not provided [RCV001324779] |
Chr10:92609382 [GRCh38]
Chr10:94369139 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1834T>C (p.Ser612Pro) |
single nucleotide variant |
not provided [RCV001339163] |
Chr10:92633754 [GRCh38]
Chr10:94393511 [GRCh37]
Chr10:10q23.33 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_004523.4(KIF11):c.265A>C (p.Ile89Leu) |
single nucleotide variant |
not provided [RCV001347747] |
Chr10:92606673 [GRCh38]
Chr10:94366430 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2160+15G>A |
single nucleotide variant |
not provided [RCV001372876] |
Chr10:92637560 [GRCh38]
Chr10:94397317 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1522A>G (p.Lys508Glu) |
single nucleotide variant |
not provided [RCV001295445] |
Chr10:92632513 [GRCh38]
Chr10:94392270 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2652G>A (p.Met884Ile) |
single nucleotide variant |
not provided [RCV001318041] |
Chr10:92648316 [GRCh38]
Chr10:94408073 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.3053A>G (p.His1018Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004036531]|Neutropenia [RCV002227522]|not provided [RCV001347937] |
Chr10:92653678 [GRCh38]
Chr10:94413435 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1219G>A (p.Val407Ile) |
single nucleotide variant |
not provided [RCV001317252] |
Chr10:92628809 [GRCh38]
Chr10:94388566 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.237T>G (p.Ile79Met) |
single nucleotide variant |
not provided [RCV001322534] |
Chr10:92606645 [GRCh38]
Chr10:94366402 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2857A>G (p.Arg953Gly) |
single nucleotide variant |
not provided [RCV001323738] |
Chr10:92649921 [GRCh38]
Chr10:94409678 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.148G>C (p.Val50Leu) |
single nucleotide variant |
not provided [RCV001346277] |
Chr10:92606335 [GRCh38]
Chr10:94366092 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1588G>A (p.Ala530Thr) |
single nucleotide variant |
not provided [RCV001373407] |
Chr10:92632579 [GRCh38]
Chr10:94392336 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3122A>G (p.His1041Arg) |
single nucleotide variant |
not provided [RCV001362524] |
Chr10:92653747 [GRCh38]
Chr10:94413504 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1450G>A (p.Ala484Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004629584]|not provided [RCV001340267] |
Chr10:92630320 [GRCh38]
Chr10:94390077 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2414A>G (p.Asn805Ser) |
single nucleotide variant |
not provided [RCV001305056] |
Chr10:92645509 [GRCh38]
Chr10:94405266 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1784A>C (p.Asn595Thr) |
single nucleotide variant |
not provided [RCV001316411] |
Chr10:92633704 [GRCh38]
Chr10:94393461 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2771-8C>T |
single nucleotide variant |
not provided [RCV001396279] |
Chr10:92649827 [GRCh38]
Chr10:94409584 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.613C>T (p.His205Tyr) |
single nucleotide variant |
not provided [RCV001308127] |
Chr10:92609424 [GRCh38]
Chr10:94369181 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1817T>C (p.Met606Thr) |
single nucleotide variant |
not provided [RCV001505598] |
Chr10:92633737 [GRCh38]
Chr10:94393494 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1668A>G (p.Gln556=) |
single nucleotide variant |
not provided [RCV001490419] |
Chr10:92632659 [GRCh38]
Chr10:94392416 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1129-9C>T |
single nucleotide variant |
not provided [RCV001515429] |
Chr10:92621376 [GRCh38]
Chr10:94381133 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.305_306del (p.Phe102fs) |
deletion |
not provided [RCV001389770] |
Chr10:92606712..92606713 [GRCh38]
Chr10:94366469..94366470 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.78-19T>C |
single nucleotide variant |
not provided [RCV001404943] |
Chr10:92606246 [GRCh38]
Chr10:94366003 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.679C>T (p.Leu227=) |
single nucleotide variant |
KIF11-related disorder [RCV004753352]|not provided [RCV001510913] |
Chr10:92609490 [GRCh38]
Chr10:94369247 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.631dup (p.Tyr211fs) |
duplication |
not provided [RCV001387627] |
Chr10:92609441..92609442 [GRCh38]
Chr10:94369198..94369199 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.3040-15G>T |
single nucleotide variant |
not provided [RCV001520252] |
Chr10:92653650 [GRCh38]
Chr10:94413407 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1812T>C (p.Phe604=) |
single nucleotide variant |
not provided [RCV001469063] |
Chr10:92633732 [GRCh38]
Chr10:94393489 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1494+8C>A |
single nucleotide variant |
not provided [RCV001474401] |
Chr10:92630372 [GRCh38]
Chr10:94390129 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.366_370del (p.Asn122fs) |
deletion |
not provided [RCV001381327] |
Chr10:92607216..92607220 [GRCh38]
Chr10:94366973..94366977 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1248A>G (p.Glu416=) |
single nucleotide variant |
not provided [RCV001475761] |
Chr10:92628838 [GRCh38]
Chr10:94388595 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2267+8A>C |
single nucleotide variant |
not provided [RCV001486921] |
Chr10:92639908 [GRCh38]
Chr10:94399665 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NC_000010.10:g.(?_94405120)_(94405399_?)del |
deletion |
not provided [RCV001383838] |
Chr10:94405120..94405399 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2979A>G (p.Gln993=) |
single nucleotide variant |
not provided [RCV001474628] |
Chr10:92650457 [GRCh38]
Chr10:94410214 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1494+10T>C |
single nucleotide variant |
not provided [RCV001478336] |
Chr10:92630374 [GRCh38]
Chr10:94390131 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.573+8A>C |
single nucleotide variant |
KIF11-related disorder [RCV003955990]|not provided [RCV001454008] |
Chr10:92609213 [GRCh38]
Chr10:94368970 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.601del (p.Glu201fs) |
deletion |
not provided [RCV001384171] |
Chr10:92609412 [GRCh38]
Chr10:94369169 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1959A>G (p.Gln653=) |
single nucleotide variant |
not provided [RCV001435199] |
Chr10:92637267 [GRCh38]
Chr10:94397024 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.732T>C (p.His244=) |
single nucleotide variant |
not provided [RCV001429873] |
Chr10:92613073 [GRCh38]
Chr10:94372830 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.855T>A (p.Ala285=) |
single nucleotide variant |
KIF11-related disorder [RCV003973239]|not provided [RCV001403079] |
Chr10:92613442 [GRCh38]
Chr10:94373199 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2304_2305del (p.His768fs) |
microsatellite |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002250890]|not provided [RCV004719246] |
Chr10:92645397..92645398 [GRCh38]
Chr10:94405154..94405155 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2507_2510del (p.Ser835_Ser836insTer) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002250971] |
Chr10:92645599..92645602 [GRCh38]
Chr10:94405356..94405359 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.246C>T (p.Tyr82=) |
single nucleotide variant |
not provided [RCV001404665] |
Chr10:92606654 [GRCh38]
Chr10:94366411 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1768dup (p.Thr590fs) |
duplication |
not provided [RCV001389446] |
Chr10:92633687..92633688 [GRCh38]
Chr10:94393444..94393445 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1320T>C (p.Phe440=) |
single nucleotide variant |
not provided [RCV001441506] |
Chr10:92630190 [GRCh38]
Chr10:94389947 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2865G>A (p.Gln955=) |
single nucleotide variant |
not provided [RCV001402599] |
Chr10:92649929 [GRCh38]
Chr10:94409686 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.934C>T (p.Arg312Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003485716]|Neurodevelopmental delay [RCV002274195]|not provided [RCV001389722] |
Chr10:92613521 [GRCh38]
Chr10:94373278 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.210+8A>G |
single nucleotide variant |
not provided [RCV001449415] |
Chr10:92606405 [GRCh38]
Chr10:94366162 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1032+7C>T |
single nucleotide variant |
KIF11-related disorder [RCV003908641]|not provided [RCV001437047] |
Chr10:92613626 [GRCh38]
Chr10:94373383 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1131G>A (p.Glu377=) |
single nucleotide variant |
not provided [RCV001407974] |
Chr10:92621387 [GRCh38]
Chr10:94381144 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2759del (p.Asp920fs) |
deletion |
not provided [RCV001390545] |
Chr10:92648423 [GRCh38]
Chr10:94408180 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.388-11T>C |
single nucleotide variant |
not provided [RCV001416045] |
Chr10:92609009 [GRCh38]
Chr10:94368766 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2441del (p.Glu814fs) |
deletion |
not provided [RCV001388336] |
Chr10:92645536 [GRCh38]
Chr10:94405293 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1873_1875+1del |
microsatellite |
not provided [RCV001386735] |
Chr10:92633789..92633792 [GRCh38]
Chr10:94393546..94393549 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.211-16T>A |
single nucleotide variant |
not provided [RCV001410735] |
Chr10:92606603 [GRCh38]
Chr10:94366360 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2580A>G (p.Ser860=) |
single nucleotide variant |
KIF11-related disorder [RCV003930884]|not provided [RCV001411017] |
Chr10:92648244 [GRCh38]
Chr10:94408001 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1899A>G (p.Leu633=) |
single nucleotide variant |
not provided [RCV001401361] |
Chr10:92637207 [GRCh38]
Chr10:94396964 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1305+7A>G |
single nucleotide variant |
KIF11-related disorder [RCV003965844]|not provided [RCV001437905] |
Chr10:92628902 [GRCh38]
Chr10:94388659 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1740C>T (p.Thr580=) |
single nucleotide variant |
KIF11-related disorder [RCV003953752]|not provided [RCV001411139] |
Chr10:92633660 [GRCh38]
Chr10:94393417 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-2A>T |
single nucleotide variant |
not provided [RCV001379987] |
Chr10:92609018 [GRCh38]
Chr10:94368775 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.2811A>G (p.Thr937=) |
single nucleotide variant |
not provided [RCV001432339] |
Chr10:92649875 [GRCh38]
Chr10:94409632 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2548-302A>G |
single nucleotide variant |
not provided [RCV001643302] |
Chr10:92647910 [GRCh38]
Chr10:94407667 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1581T>C (p.Asn527=) |
single nucleotide variant |
not provided [RCV001489821] |
Chr10:92632572 [GRCh38]
Chr10:94392329 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-124T>C |
single nucleotide variant |
not provided [RCV001645438] |
Chr10:92608896 [GRCh38]
Chr10:94368653 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1875+229G>A |
single nucleotide variant |
not provided [RCV001717135] |
Chr10:92634024 [GRCh38]
Chr10:94393781 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.78-329G>A |
single nucleotide variant |
not provided [RCV001688342] |
Chr10:92605936 [GRCh38]
Chr10:94365693 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2548-106_2548-104del |
deletion |
not provided [RCV001593437] |
Chr10:92648105..92648107 [GRCh38]
Chr10:94407862..94407864 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1702+278C>T |
single nucleotide variant |
not provided [RCV001611041] |
Chr10:92632971 [GRCh38]
Chr10:94392728 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1494+121A>C |
single nucleotide variant |
not provided [RCV001669167] |
Chr10:92630485 [GRCh38]
Chr10:94390242 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1876-259C>T |
single nucleotide variant |
not provided [RCV001713780] |
Chr10:92636925 [GRCh38]
Chr10:94396682 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1306-188G>A |
single nucleotide variant |
not provided [RCV001715641] |
Chr10:92629988 [GRCh38]
Chr10:94389745 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.574-82_574-79dup |
duplication |
not provided [RCV001591439] |
Chr10:92609301..92609302 [GRCh38]
Chr10:94369058..94369059 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.574-82A>T |
single nucleotide variant |
not provided [RCV001687002] |
Chr10:92609303 [GRCh38]
Chr10:94369060 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1129-257A>G |
single nucleotide variant |
not provided [RCV001724467] |
Chr10:92621128 [GRCh38]
Chr10:94380885 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2922+57C>T |
single nucleotide variant |
not provided [RCV001667921] |
Chr10:92650043 [GRCh38]
Chr10:94409800 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.699-245G>T |
single nucleotide variant |
not provided [RCV001715862] |
Chr10:92612795 [GRCh38]
Chr10:94372552 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1539C>T (p.Leu513=) |
single nucleotide variant |
not provided [RCV001488195] |
Chr10:92632530 [GRCh38]
Chr10:94392287 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1833A>G (p.Gln611=) |
single nucleotide variant |
not provided [RCV001456189] |
Chr10:92633753 [GRCh38]
Chr10:94393510 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1128+11del |
deletion |
not provided [RCV001481207] |
Chr10:92616842 [GRCh38]
Chr10:94376599 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1494+9C>A |
single nucleotide variant |
not provided [RCV001468186] |
Chr10:92630373 [GRCh38]
Chr10:94390130 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1057_1058insTACTTTG (p.Ala353fs) |
insertion |
not provided [RCV001387830] |
Chr10:92616759..92616760 [GRCh38]
Chr10:94376516..94376517 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1218-18T>C |
single nucleotide variant |
not provided [RCV001520350] |
Chr10:92628790 [GRCh38]
Chr10:94388547 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1533T>C (p.Ser511=) |
single nucleotide variant |
not provided [RCV001405840] |
Chr10:92632524 [GRCh38]
Chr10:94392281 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2070A>G (p.Gln690=) |
single nucleotide variant |
not provided [RCV001478434] |
Chr10:92637455 [GRCh38]
Chr10:94397212 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2154T>C (p.His718=) |
single nucleotide variant |
not provided [RCV001452720] |
Chr10:92637539 [GRCh38]
Chr10:94397296 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-11_388-9del |
microsatellite |
not provided [RCV001488755] |
Chr10:92609005..92609007 [GRCh38]
Chr10:94368762..94368764 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2922+6T>C |
single nucleotide variant |
not provided [RCV001510621] |
Chr10:92649992 [GRCh38]
Chr10:94409749 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.308+13G>A |
single nucleotide variant |
not provided [RCV001523681] |
Chr10:92606729 [GRCh38]
Chr10:94366486 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.157C>T (p.Arg53Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003314007]|not provided [RCV001382096] |
Chr10:92606344 [GRCh38]
Chr10:94366101 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1495-5T>C |
single nucleotide variant |
not provided [RCV001517548] |
Chr10:92632481 [GRCh38]
Chr10:94392238 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1680_1686dup (p.His563fs) |
duplication |
not provided [RCV001380184] |
Chr10:92632670..92632671 [GRCh38]
Chr10:94392427..94392428 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2259T>C (p.Asn753=) |
single nucleotide variant |
not provided [RCV001407218] |
Chr10:92639892 [GRCh38]
Chr10:94399649 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.77+9_77+11del |
deletion |
KIF11-related disorder [RCV003931103]|not provided [RCV001518042]|not specified [RCV001699568] |
Chr10:92593460..92593462 [GRCh38]
Chr10:94353217..94353219 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1857T>C (p.Thr619=) |
single nucleotide variant |
not provided [RCV001472169] |
Chr10:92633777 [GRCh38]
Chr10:94393534 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1952A>G (p.Asn651Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004037921]|KIF11-related disorder [RCV003940900]|not provided [RCV001512303] |
Chr10:92637260 [GRCh38]
Chr10:94397017 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001728033] |
|
pathogenic |
| NM_004523.4(KIF11):c.2158C>T (p.Gln720Ter) |
single nucleotide variant |
not provided [RCV001726824] |
Chr10:92637543 [GRCh38]
Chr10:94397300 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.573+90_574-75del |
deletion |
not provided [RCV001732480] |
Chr10:92609294..92609309 [GRCh38]
Chr10:94369051..94369066 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln) |
single nucleotide variant |
not provided [RCV003120850]|not specified [RCV002249242] |
Chr10:92630305 [GRCh38]
Chr10:94390062 [GRCh37]
Chr10:10q23.33 |
benign|uncertain significance |
| NM_004523.4(KIF11):c.758_767dup (p.Lys257fs) |
duplication |
Neurodevelopmental disorder [RCV002277694] |
Chr10:92613098..92613099 [GRCh38]
Chr10:94372855..94372856 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2771-1G>C |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002273127] |
Chr10:92649834 [GRCh38]
Chr10:94409591 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2771-7G>A |
single nucleotide variant |
not provided [RCV002104304] |
Chr10:92649828 [GRCh38]
Chr10:94409585 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1494+38G>C |
single nucleotide variant |
not provided [RCV001757964] |
Chr10:92630402 [GRCh38]
Chr10:94390159 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2831G>A (p.Arg944His) |
single nucleotide variant |
Inborn genetic diseases [RCV002540533]|not provided [RCV001771325] |
Chr10:92649895 [GRCh38]
Chr10:94409652 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.206A>C (p.Asp69Ala) |
single nucleotide variant |
not provided [RCV001754001] |
Chr10:92606393 [GRCh38]
Chr10:94366150 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.422A>T (p.His141Leu) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001775280] |
Chr10:92609054 [GRCh38]
Chr10:94368811 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.238G>C (p.Asp80His) |
single nucleotide variant |
not provided [RCV001752568] |
Chr10:92606646 [GRCh38]
Chr10:94366403 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.132T>A (p.Asp44Glu) |
single nucleotide variant |
not provided [RCV001765941] |
Chr10:92606319 [GRCh38]
Chr10:94366076 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.121G>C (p.Val41Leu) |
single nucleotide variant |
not provided [RCV001763077] |
Chr10:92606308 [GRCh38]
Chr10:94366065 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1401T>A (p.His467Gln) |
single nucleotide variant |
not provided [RCV001815710] |
Chr10:92630271 [GRCh38]
Chr10:94390028 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2018dup (p.Glu674fs) |
duplication |
not provided [RCV001817656] |
Chr10:92637396..92637397 [GRCh38]
Chr10:94397153..94397154 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.179A>T (p.Lys60Met) |
single nucleotide variant |
not provided [RCV004770217]|not specified [RCV001817689] |
Chr10:92606366 [GRCh38]
Chr10:94366123 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1075A>G (p.Ile359Val) |
single nucleotide variant |
not provided [RCV001869701]|not specified [RCV001819585] |
Chr10:92616779 [GRCh38]
Chr10:94376536 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2461T>C (p.Ser821Pro) |
single nucleotide variant |
not specified [RCV001820671] |
Chr10:92645556 [GRCh38]
Chr10:94405313 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2105del (p.Lys702fs) |
deletion |
not provided [RCV001817826] |
Chr10:92637487 [GRCh38]
Chr10:94397244 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.617A>G (p.Asn206Ser) |
single nucleotide variant |
not provided [RCV002045269] |
Chr10:92609428 [GRCh38]
Chr10:94369185 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1494+10T>G |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002290810]|not provided [RCV001987907] |
Chr10:92630374 [GRCh38]
Chr10:94390131 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2878ATG[1] (p.Met961del) |
microsatellite |
not provided [RCV001971756] |
Chr10:92649942..92649944 [GRCh38]
Chr10:94409699..94409701 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.76A>G (p.Arg26Gly) |
single nucleotide variant |
not provided [RCV002007699] |
Chr10:92593451 [GRCh38]
Chr10:94353208 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.308+5G>A |
single nucleotide variant |
not provided [RCV001929109] |
Chr10:92606721 [GRCh38]
Chr10:94366478 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3166C>A (p.Leu1056Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003355757]|not provided [RCV002045377] |
Chr10:92653791 [GRCh38]
Chr10:94413548 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2882T>C (p.Met961Thr) |
single nucleotide variant |
not provided [RCV002045379] |
Chr10:92649946 [GRCh38]
Chr10:94409703 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.427A>G (p.Ile143Val) |
single nucleotide variant |
not provided [RCV001913370] |
Chr10:92609059 [GRCh38]
Chr10:94368816 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1681G>A (p.Glu561Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003250341]|not provided [RCV001987677] |
Chr10:92632672 [GRCh38]
Chr10:94392429 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.241G>A (p.Val81Ile) |
single nucleotide variant |
not provided [RCV001966209] |
Chr10:92606649 [GRCh38]
Chr10:94366406 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2383G>A (p.Glu795Lys) |
single nucleotide variant |
not provided [RCV001893939] |
Chr10:92645478 [GRCh38]
Chr10:94405235 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1690A>G (p.Lys564Glu) |
single nucleotide variant |
not provided [RCV002003129] |
Chr10:92632681 [GRCh38]
Chr10:94392438 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NC_000010.11:g.92621385_92621387del |
deletion |
not provided [RCV001909215] |
Chr10:92621383..92621385 [GRCh38]
Chr10:94381140..94381142 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2901C>A (p.Asn967Lys) |
single nucleotide variant |
not provided [RCV001985637] |
Chr10:92649965 [GRCh38]
Chr10:94409722 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1933G>A (p.Val645Met) |
single nucleotide variant |
not provided [RCV001947512] |
Chr10:92637241 [GRCh38]
Chr10:94396998 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2548-90_2548-89insAAAAAAAAAAAAAAAA |
insertion |
not provided [RCV001824528] |
Chr10:92648108..92648109 [GRCh38]
Chr10:94407865..94407866 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1739C>T (p.Thr580Ile) |
single nucleotide variant |
not provided [RCV002022316] |
Chr10:92633659 [GRCh38]
Chr10:94393416 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2548-3C>T |
single nucleotide variant |
not provided [RCV002040493] |
Chr10:92648209 [GRCh38]
Chr10:94407966 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2141T>C (p.Ile714Thr) |
single nucleotide variant |
not provided [RCV001964241] |
Chr10:92637526 [GRCh38]
Chr10:94397283 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2657T>C (p.Ile886Thr) |
single nucleotide variant |
not provided [RCV002041851] |
Chr10:92648321 [GRCh38]
Chr10:94408078 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.376dup (p.Thr126fs) |
duplication |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001843708] |
Chr10:92607225..92607226 [GRCh38]
Chr10:94366982..94366983 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2521del (p.Glu841fs) |
deletion |
not provided [RCV001872708] |
Chr10:92645614 [GRCh38]
Chr10:94405371 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.3023_3028dup (p.Val1009_Pro1010insArgVal) |
duplication |
not provided [RCV001948266] |
Chr10:92650500..92650501 [GRCh38]
Chr10:94410257..94410258 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2590G>A (p.Glu864Lys) |
single nucleotide variant |
not provided [RCV001948465] |
Chr10:92648254 [GRCh38]
Chr10:94408011 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1249G>C (p.Glu417Gln) |
single nucleotide variant |
not provided [RCV001908096] |
Chr10:92628839 [GRCh38]
Chr10:94388596 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2257A>T (p.Asn753Tyr) |
single nucleotide variant |
not provided [RCV002040496] |
Chr10:92639890 [GRCh38]
Chr10:94399647 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2007A>T (p.Glu669Asp) |
single nucleotide variant |
not provided [RCV001947251] |
Chr10:92637392 [GRCh38]
Chr10:94397149 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384) |
copy number loss |
not specified [RCV002052882] |
Chr10:92667881..98970384 [GRCh37]
Chr10:10q23.31-24.1 |
pathogenic |
| NM_004523.4(KIF11):c.789+1G>T |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV001823032] |
Chr10:92613131 [GRCh38]
Chr10:94372888 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2650A>C (p.Met884Leu) |
single nucleotide variant |
not provided [RCV001887648] |
Chr10:92648314 [GRCh38]
Chr10:94408071 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2708A>G (p.Lys903Arg) |
single nucleotide variant |
not provided [RCV002012880] |
Chr10:92648372 [GRCh38]
Chr10:94408129 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.210+16A>G |
single nucleotide variant |
not provided [RCV001959996] |
Chr10:92606413 [GRCh38]
Chr10:94366170 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.1772C>G (p.Ser591Cys) |
single nucleotide variant |
not provided [RCV001935414] |
Chr10:92633692 [GRCh38]
Chr10:94393449 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2176A>T (p.Met726Leu) |
single nucleotide variant |
not provided [RCV002000540] |
Chr10:92639809 [GRCh38]
Chr10:94399566 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3073A>G (p.Arg1025Gly) |
single nucleotide variant |
not provided [RCV002012185] |
Chr10:92653698 [GRCh38]
Chr10:94413455 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1893TCT[1] (p.Leu633del) |
microsatellite |
not provided [RCV001973529] |
Chr10:92637201..92637203 [GRCh38]
Chr10:94396958..94396960 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1217+13_1217+14insACACCCTGCTAATTTTTGCATTTTTTTGTAGAGACAGGGTTTCACCATGCTGCCTAGGCTTCTATTTTG |
insertion |
not provided [RCV001943508] |
Chr10:92621486..92621487 [GRCh38]
Chr10:94381243..94381244 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2343G>A (p.Gln781=) |
single nucleotide variant |
not provided [RCV002050253] |
Chr10:92645438 [GRCh38]
Chr10:94405195 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.342A>T (p.Thr114=) |
single nucleotide variant |
not provided [RCV001936202] |
Chr10:92607192 [GRCh38]
Chr10:94366949 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.248G>A (p.Arg83Gln) |
single nucleotide variant |
not provided [RCV001883292] |
Chr10:92606656 [GRCh38]
Chr10:94366413 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1672G>A (p.Ala558Thr) |
single nucleotide variant |
not provided [RCV001883365] |
Chr10:92632663 [GRCh38]
Chr10:94392420 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1973del (p.Phe658fs) |
deletion |
not provided [RCV001982544] |
Chr10:92637278 [GRCh38]
Chr10:94397035 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2635A>G (p.Ile879Val) |
single nucleotide variant |
not provided [RCV002027921] |
Chr10:92648299 [GRCh38]
Chr10:94408056 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.428T>C (p.Ile143Thr) |
single nucleotide variant |
not provided [RCV001900559] |
Chr10:92609060 [GRCh38]
Chr10:94368817 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2252A>G (p.Gln751Arg) |
single nucleotide variant |
not provided [RCV002031057] |
Chr10:92639885 [GRCh38]
Chr10:94399642 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2208G>A (p.Leu736=) |
single nucleotide variant |
not provided [RCV001955719] |
Chr10:92639841 [GRCh38]
Chr10:94399598 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.671C>T (p.Ala224Val) |
single nucleotide variant |
not provided [RCV001882331] |
Chr10:92609482 [GRCh38]
Chr10:94369239 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2606G>A (p.Arg869His) |
single nucleotide variant |
not provided [RCV002050953] |
Chr10:92648270 [GRCh38]
Chr10:94408027 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2089T>G (p.Leu697Val) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002507580]|not provided [RCV001916899] |
Chr10:92637474 [GRCh38]
Chr10:94397231 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2395A>G (p.Lys799Glu) |
single nucleotide variant |
not provided [RCV002045854] |
Chr10:92645490 [GRCh38]
Chr10:94405247 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.727A>G (p.Ile243Val) |
single nucleotide variant |
not provided [RCV001920888] |
Chr10:92613068 [GRCh38]
Chr10:94372825 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2905_2907del (p.Lys969del) |
deletion |
not provided [RCV001922609] |
Chr10:92649969..92649971 [GRCh38]
Chr10:94409726..94409728 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.309-13T>G |
single nucleotide variant |
not provided [RCV001990387] |
Chr10:92607146 [GRCh38]
Chr10:94366903 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.97C>T (p.Arg33Trp) |
single nucleotide variant |
not provided [RCV002011231] |
Chr10:92606284 [GRCh38]
Chr10:94366041 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.210+4A>G |
single nucleotide variant |
not provided [RCV002046452] |
Chr10:92606401 [GRCh38]
Chr10:94366158 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1343A>C (p.Asp448Ala) |
single nucleotide variant |
not provided [RCV001993433] |
Chr10:92630213 [GRCh38]
Chr10:94389970 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2582A>G (p.Asp861Gly) |
single nucleotide variant |
not provided [RCV002018138] |
Chr10:92648246 [GRCh38]
Chr10:94408003 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1432G>A (p.Glu478Lys) |
single nucleotide variant |
not provided [RCV001870527] |
Chr10:92630302 [GRCh38]
Chr10:94390059 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2773A>T (p.Thr925Ser) |
single nucleotide variant |
not provided [RCV001998214] |
Chr10:92649837 [GRCh38]
Chr10:94409594 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2435C>T (p.Ser812Phe) |
single nucleotide variant |
not provided [RCV001999443] |
Chr10:92645530 [GRCh38]
Chr10:94405287 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1006A>G (p.Ile336Val) |
single nucleotide variant |
not provided [RCV001999478] |
Chr10:92613593 [GRCh38]
Chr10:94373350 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2633A>T (p.Asn878Ile) |
single nucleotide variant |
not provided [RCV001991443] |
Chr10:92648297 [GRCh38]
Chr10:94408054 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2351_2352del (p.Arg784fs) |
deletion |
not provided [RCV001877890] |
Chr10:92645445..92645446 [GRCh38]
Chr10:94405202..94405203 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NC_000010.10:g.(?_94392223)_(94393572_?)del |
deletion |
not provided [RCV001980225] |
Chr10:94392223..94393572 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1147G>C (p.Glu383Gln) |
single nucleotide variant |
not provided [RCV001999012] |
Chr10:92621403 [GRCh38]
Chr10:94381160 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1495-3T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002553499]|not provided [RCV001881736] |
Chr10:92632483 [GRCh38]
Chr10:94392240 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1150C>T (p.Arg384Cys) |
single nucleotide variant |
not provided [RCV001925383] |
Chr10:92621406 [GRCh38]
Chr10:94381163 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2907AGA[1] (p.Glu971del) |
microsatellite |
not provided [RCV001940546] |
Chr10:92649970..92649972 [GRCh38]
Chr10:94409727..94409729 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.277G>A (p.Val93Ile) |
single nucleotide variant |
not provided [RCV001907225] |
Chr10:92606685 [GRCh38]
Chr10:94366442 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3143T>C (p.Leu1048Ser) |
single nucleotide variant |
not provided [RCV001870021] |
Chr10:92653768 [GRCh38]
Chr10:94413525 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2905A>G (p.Lys969Glu) |
single nucleotide variant |
not provided [RCV001870001] |
Chr10:92649969 [GRCh38]
Chr10:94409726 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.338_339del (p.Phe113fs) |
deletion |
not provided [RCV001958883] |
Chr10:92607186..92607187 [GRCh38]
Chr10:94366943..94366944 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1117G>A (p.Ala373Thr) |
single nucleotide variant |
not provided [RCV001885500] |
Chr10:92616821 [GRCh38]
Chr10:94376578 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1559A>G (p.Lys520Arg) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002471206]|not provided [RCV001977379] |
Chr10:92632550 [GRCh38]
Chr10:94392307 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1391C>T (p.Thr464Ile) |
single nucleotide variant |
not provided [RCV001978253] |
Chr10:92630261 [GRCh38]
Chr10:94390018 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.309-52_309-51del |
microsatellite |
not provided [RCV002034786] |
Chr10:92607105..92607106 [GRCh38]
Chr10:94366862..94366863 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2078C>G (p.Thr693Ser) |
single nucleotide variant |
not provided [RCV002027981] |
Chr10:92637463 [GRCh38]
Chr10:94397220 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.382G>A (p.Glu128Lys) |
single nucleotide variant |
not provided [RCV001900207] |
Chr10:92607232 [GRCh38]
Chr10:94366989 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2268-6C>G |
single nucleotide variant |
not provided [RCV001917516] |
Chr10:92645357 [GRCh38]
Chr10:94405114 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1218-3T>G |
single nucleotide variant |
not provided [RCV001997047] |
Chr10:92628805 [GRCh38]
Chr10:94388562 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2197T>C (p.Phe733Leu) |
single nucleotide variant |
not provided [RCV002019657] |
Chr10:92639830 [GRCh38]
Chr10:94399587 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.399T>A (p.Ala133=) |
single nucleotide variant |
not provided [RCV001925416] |
Chr10:92609031 [GRCh38]
Chr10:94368788 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2747A>G (p.Asp916Gly) |
single nucleotide variant |
not provided [RCV002009708] |
Chr10:92648411 [GRCh38]
Chr10:94408168 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2161-8T>G |
single nucleotide variant |
not provided [RCV001993638] |
Chr10:92639786 [GRCh38]
Chr10:94399543 [GRCh37]
Chr10:10q23.33 |
likely benign|uncertain significance |
| NM_004523.4(KIF11):c.2269A>G (p.Lys757Glu) |
single nucleotide variant |
not provided [RCV002047597] |
Chr10:92645364 [GRCh38]
Chr10:94405121 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NC_000010.10:g.(?_94368757)_(94405419_?)del |
deletion |
not provided [RCV001932759] |
Chr10:94368757..94405419 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.605_606insA (p.Thr203fs) |
insertion |
not provided [RCV001931068] |
Chr10:92609416..92609417 [GRCh38]
Chr10:94369173..94369174 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2910A>G (p.Glu970=) |
single nucleotide variant |
not provided [RCV002107260] |
Chr10:92649974 [GRCh38]
Chr10:94409731 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2985A>G (p.Pro995=) |
single nucleotide variant |
not provided [RCV002147077] |
Chr10:92650463 [GRCh38]
Chr10:94410220 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.789+12C>T |
single nucleotide variant |
not provided [RCV002207473] |
Chr10:92613142 [GRCh38]
Chr10:94372899 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1048T>C (p.Leu350=) |
single nucleotide variant |
not provided [RCV002147693] |
Chr10:92616752 [GRCh38]
Chr10:94376509 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1692G>A (p.Lys564=) |
single nucleotide variant |
not provided [RCV002188542] |
Chr10:92632683 [GRCh38]
Chr10:94392440 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2002-4A>G |
single nucleotide variant |
KIF11-related disorder [RCV003916373]|not provided [RCV002191952] |
Chr10:92637383 [GRCh38]
Chr10:94397140 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1702+14G>C |
single nucleotide variant |
not provided [RCV002091269] |
Chr10:92632707 [GRCh38]
Chr10:94392464 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1876-17T>C |
single nucleotide variant |
not provided [RCV002148335] |
Chr10:92637167 [GRCh38]
Chr10:94396924 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1284T>A (p.Ala428=) |
single nucleotide variant |
not provided [RCV002125542] |
Chr10:92628874 [GRCh38]
Chr10:94388631 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2001+14T>C |
single nucleotide variant |
not provided [RCV002206572] |
Chr10:92637323 [GRCh38]
Chr10:94397080 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.186A>G (p.Ser62=) |
single nucleotide variant |
not provided [RCV002148018] |
Chr10:92606373 [GRCh38]
Chr10:94366130 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2770+7T>C |
single nucleotide variant |
not provided [RCV002109564] |
Chr10:92648441 [GRCh38]
Chr10:94408198 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2934A>G (p.Val978=) |
single nucleotide variant |
not provided [RCV002085785] |
Chr10:92650412 [GRCh38]
Chr10:94410169 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-12T>C |
single nucleotide variant |
not provided [RCV002148767] |
Chr10:92609008 [GRCh38]
Chr10:94368765 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2670A>G (p.Lys890=) |
single nucleotide variant |
not provided [RCV002206872] |
Chr10:92648334 [GRCh38]
Chr10:94408091 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2267+19C>T |
single nucleotide variant |
not provided [RCV002085671] |
Chr10:92639919 [GRCh38]
Chr10:94399676 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2418C>A (p.Gly806=) |
single nucleotide variant |
not provided [RCV002135006] |
Chr10:92645513 [GRCh38]
Chr10:94405270 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1461T>C (p.Ser487=) |
single nucleotide variant |
not provided [RCV002152527] |
Chr10:92630331 [GRCh38]
Chr10:94390088 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1870T>C (p.Leu624=) |
single nucleotide variant |
not provided [RCV002174396] |
Chr10:92633790 [GRCh38]
Chr10:94393547 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2538C>T (p.Asn846=) |
single nucleotide variant |
not provided [RCV002149865] |
Chr10:92645633 [GRCh38]
Chr10:94405390 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.877T>C (p.Leu293=) |
single nucleotide variant |
not provided [RCV002173941] |
Chr10:92613464 [GRCh38]
Chr10:94373221 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2770+18T>G |
single nucleotide variant |
not provided [RCV002212601] |
Chr10:92648452 [GRCh38]
Chr10:94408209 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.387+12T>G |
single nucleotide variant |
not provided [RCV002208972] |
Chr10:92607249 [GRCh38]
Chr10:94367006 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1578C>T (p.His526=) |
single nucleotide variant |
not provided [RCV002078279] |
Chr10:92632569 [GRCh38]
Chr10:94392326 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1495-12T>C |
single nucleotide variant |
not provided [RCV002151866] |
Chr10:92632474 [GRCh38]
Chr10:94392231 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2268-4A>G |
single nucleotide variant |
not provided [RCV002173422] |
Chr10:92645359 [GRCh38]
Chr10:94405116 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.483G>A (p.Leu161=) |
single nucleotide variant |
not provided [RCV002173584] |
Chr10:92609115 [GRCh38]
Chr10:94368872 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2421C>T (p.Asn807=) |
single nucleotide variant |
not provided [RCV002152727] |
Chr10:92645516 [GRCh38]
Chr10:94405273 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3016A>G (p.Ile1006Val) |
single nucleotide variant |
KIF11-related disorder [RCV003978702]|not provided [RCV002131993] |
Chr10:92650494 [GRCh38]
Chr10:94410251 [GRCh37]
Chr10:10q23.33 |
benign|likely benign |
| NM_004523.4(KIF11):c.1218-20_1218-10del |
deletion |
not provided [RCV002166600] |
Chr10:92628781..92628791 [GRCh38]
Chr10:94388538..94388548 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2805A>G (p.Pro935=) |
single nucleotide variant |
not provided [RCV002193450] |
Chr10:92649869 [GRCh38]
Chr10:94409626 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3117A>G (p.Thr1039=) |
single nucleotide variant |
not provided [RCV002077489] |
Chr10:92653742 [GRCh38]
Chr10:94413499 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2161-8T>C |
single nucleotide variant |
not provided [RCV002157510] |
Chr10:92639786 [GRCh38]
Chr10:94399543 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.77+18A>G |
single nucleotide variant |
not provided [RCV002082854] |
Chr10:92593470 [GRCh38]
Chr10:94353227 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3040-15G>A |
single nucleotide variant |
not provided [RCV002155677] |
Chr10:92653650 [GRCh38]
Chr10:94413407 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1566A>T (p.Ala522=) |
single nucleotide variant |
not provided [RCV002218439] |
Chr10:92632557 [GRCh38]
Chr10:94392314 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.546A>G (p.Leu182=) |
single nucleotide variant |
not provided [RCV002201410] |
Chr10:92609178 [GRCh38]
Chr10:94368935 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.216T>C (p.Phe72=) |
single nucleotide variant |
not provided [RCV002216699] |
Chr10:92606624 [GRCh38]
Chr10:94366381 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1713G>A (p.Leu571=) |
single nucleotide variant |
not provided [RCV002081636] |
Chr10:92633633 [GRCh38]
Chr10:94393390 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2267+14A>C |
single nucleotide variant |
not provided [RCV002181175] |
Chr10:92639914 [GRCh38]
Chr10:94399671 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2770+18T>C |
single nucleotide variant |
not provided [RCV002121594] |
Chr10:92648452 [GRCh38]
Chr10:94408209 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.879G>A (p.Leu293=) |
single nucleotide variant |
not provided [RCV002181601] |
Chr10:92613466 [GRCh38]
Chr10:94373223 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1495-11T>A |
single nucleotide variant |
not provided [RCV002202443] |
Chr10:92632475 [GRCh38]
Chr10:94392232 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1129-8T>C |
single nucleotide variant |
not provided [RCV002219538] |
Chr10:92621377 [GRCh38]
Chr10:94381134 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1078T>C (p.Leu360=) |
single nucleotide variant |
not provided [RCV002180147] |
Chr10:92616782 [GRCh38]
Chr10:94376539 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2921C>T (p.Pro974Leu) |
single nucleotide variant |
not provided [RCV002140804] |
Chr10:92649985 [GRCh38]
Chr10:94409742 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs) |
insertion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002226859] |
Chr10:92645536..92645537 [GRCh38]
Chr10:94405293..94405294 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1032+17G>C |
single nucleotide variant |
not provided [RCV002144493] |
Chr10:92613636 [GRCh38]
Chr10:94373393 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2770+12G>T |
single nucleotide variant |
not provided [RCV002121500] |
Chr10:92648446 [GRCh38]
Chr10:94408203 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1341T>C (p.Leu447=) |
single nucleotide variant |
not provided [RCV002163571] |
Chr10:92630211 [GRCh38]
Chr10:94389968 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2268-17A>G |
single nucleotide variant |
not provided [RCV002198249] |
Chr10:92645346 [GRCh38]
Chr10:94405103 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.841A>C (p.Arg281=) |
single nucleotide variant |
not provided [RCV002183319] |
Chr10:92613428 [GRCh38]
Chr10:94373185 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.574-5G>A |
single nucleotide variant |
not provided [RCV002178123] |
Chr10:92609380 [GRCh38]
Chr10:94369137 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1703-18T>C |
single nucleotide variant |
not provided [RCV002162781] |
Chr10:92633605 [GRCh38]
Chr10:94393362 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3039+8A>G |
single nucleotide variant |
not provided [RCV002175271] |
Chr10:92650525 [GRCh38]
Chr10:94410282 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.645A>G (p.Glu215=) |
single nucleotide variant |
not provided [RCV002220221] |
Chr10:92609456 [GRCh38]
Chr10:94369213 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1641A>G (p.Glu547=) |
single nucleotide variant |
not provided [RCV002081587] |
Chr10:92632632 [GRCh38]
Chr10:94392389 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2267+20T>C |
single nucleotide variant |
not provided [RCV002159634] |
Chr10:92639920 [GRCh38]
Chr10:94399677 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-8_388-5del |
deletion |
not provided [RCV002177631] |
Chr10:92609011..92609014 [GRCh38]
Chr10:94368768..94368771 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1306-17T>A |
single nucleotide variant |
not provided [RCV002084368] |
Chr10:92630159 [GRCh38]
Chr10:94389916 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2001+13A>G |
single nucleotide variant |
not provided [RCV002140239] |
Chr10:92637322 [GRCh38]
Chr10:94397079 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.114T>C (p.His38=) |
single nucleotide variant |
not provided [RCV002103551] |
Chr10:92606301 [GRCh38]
Chr10:94366058 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2022A>G (p.Glu674=) |
single nucleotide variant |
not provided [RCV002157695] |
Chr10:92637407 [GRCh38]
Chr10:94397164 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2391T>C (p.Ser797=) |
single nucleotide variant |
not provided [RCV002155859] |
Chr10:92645486 [GRCh38]
Chr10:94405243 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2947C>T (p.Leu983=) |
single nucleotide variant |
not provided [RCV002201573] |
Chr10:92650425 [GRCh38]
Chr10:94410182 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2542T>C (p.Leu848=) |
single nucleotide variant |
not provided [RCV002135511] |
Chr10:92645637 [GRCh38]
Chr10:94405394 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-15T>C |
single nucleotide variant |
not provided [RCV002141084] |
Chr10:92609005 [GRCh38]
Chr10:94368762 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3150G>C (p.Leu1050=) |
single nucleotide variant |
not provided [RCV002120476] |
Chr10:92653775 [GRCh38]
Chr10:94413532 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1104A>G (p.Lys368=) |
single nucleotide variant |
KIF11-related disorder [RCV003951239]|not provided [RCV002140006] |
Chr10:92616808 [GRCh38]
Chr10:94376565 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.654A>G (p.Ala218=) |
single nucleotide variant |
not provided [RCV002179995] |
Chr10:92609465 [GRCh38]
Chr10:94369222 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3039+12C>G |
single nucleotide variant |
not provided [RCV002082641] |
Chr10:92650529 [GRCh38]
Chr10:94410286 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1875+16A>C |
single nucleotide variant |
not provided [RCV002144544] |
Chr10:92633811 [GRCh38]
Chr10:94393568 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.699-11T>A |
single nucleotide variant |
not provided [RCV002182722] |
Chr10:92613029 [GRCh38]
Chr10:94372786 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.210+13G>T |
single nucleotide variant |
not provided [RCV002163422] |
Chr10:92606410 [GRCh38]
Chr10:94366167 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NC_000010.10:g.(?_94353133)_(94353229_?)del |
deletion |
not provided [RCV003113505] |
Chr10:94353133..94353229 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NC_000010.10:g.(?_94366896)_(94367014_?)del |
deletion |
not provided [RCV003113506] |
Chr10:94366896..94367014 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NC_000010.10:g.(?_94353133)_(94405419_?)del |
deletion |
not provided [RCV003113507] |
Chr10:94353133..94405419 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NC_000010.10:g.(?_94388545)_(94413553_?)del |
deletion |
not provided [RCV003113508] |
Chr10:94388545..94413553 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NC_000010.10:g.(?_94362577)_(94366140_?)del |
deletion |
not provided [RCV003113510] |
Chr10:94362577..94366140 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NC_000010.10:g.(?_94372777)_(94373396_?)del |
deletion |
not provided [RCV003113509] |
Chr10:94372777..94373396 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2644G>A (p.Asp882Asn) |
single nucleotide variant |
not provided [RCV003121945] |
Chr10:92648308 [GRCh38]
Chr10:94408065 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2654C>A (p.Thr885Asn) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003148137] |
Chr10:92648318 [GRCh38]
Chr10:94408075 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.699-1G>C |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002273123] |
Chr10:92613039 [GRCh38]
Chr10:94372796 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.265A>T (p.Ile89Phe) |
single nucleotide variant |
not provided [RCV002244407] |
Chr10:92606673 [GRCh38]
Chr10:94366430 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.473del (p.Val158fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002250948] |
Chr10:92609105 [GRCh38]
Chr10:94368862 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2369G>C (p.Gly790Ala) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003131355] |
Chr10:92645464 [GRCh38]
Chr10:94405221 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1876-132_1876-131dup |
duplication |
not provided [RCV002269472] |
Chr10:92637032..92637033 [GRCh38]
Chr10:94396789..94396790 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.574-81GT[21] |
microsatellite |
not provided [RCV002260737] |
Chr10:92609303..92609304 [GRCh38]
Chr10:94369060..94369061 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1460G>C (p.Ser487Thr) |
single nucleotide variant |
not provided [RCV002275483] |
Chr10:92630330 [GRCh38]
Chr10:94390087 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.698+4A>G |
single nucleotide variant |
not provided [RCV002265308] |
Chr10:92609513 [GRCh38]
Chr10:94369270 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.406A>T (p.Ile136Phe) |
single nucleotide variant |
not provided [RCV002293925] |
Chr10:92609038 [GRCh38]
Chr10:94368795 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.574-81GT[22] |
microsatellite |
not provided [RCV002285573] |
Chr10:92609303..92609304 [GRCh38]
Chr10:94369060..94369061 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1513_1516del (p.Glu505fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002284016] |
Chr10:92632502..92632505 [GRCh38]
Chr10:94392259..94392262 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1703-1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002289094] |
Chr10:92633622 [GRCh38]
Chr10:94393379 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2049dup (p.Asn684Ter) |
duplication |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002290242] |
Chr10:92637433..92637434 [GRCh38]
Chr10:94397190..94397191 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2402_2403del (p.His800_Ser801insTer) |
microsatellite |
not provided [RCV002267528] |
Chr10:92645495..92645496 [GRCh38]
Chr10:94405252..94405253 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.945_946del (p.Lys315fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002468726] |
Chr10:92613532..92613533 [GRCh38]
Chr10:94373289..94373290 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2545G>C (p.Glu849Gln) |
single nucleotide variant |
not provided [RCV002297294] |
Chr10:92645640 [GRCh38]
Chr10:94405397 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1875+4A>G |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003148245] |
Chr10:92633799 [GRCh38]
Chr10:94393556 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1 |
copy number loss |
not provided [RCV002472645] |
Chr10:89823147..96056941 [GRCh37]
Chr10:10q23.31-23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002466878] |
Chr10:92645403 [GRCh38]
Chr10:94405160 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs) |
indel |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002472078] |
Chr10:92606661..92606668 [GRCh38]
Chr10:94366418..94366425 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2022A>T (p.Glu674Asp) |
single nucleotide variant |
not provided [RCV002726834] |
Chr10:92637407 [GRCh38]
Chr10:94397164 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1935_1936del (p.Ser646fs) |
microsatellite |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV004588571] |
Chr10:92637241..92637242 [GRCh38]
Chr10:94396998..94396999 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1480G>A (p.Asp494Asn) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003148147] |
Chr10:92630350 [GRCh38]
Chr10:94390107 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1300A>G (p.Asn434Asp) |
single nucleotide variant |
not provided [RCV002301662] |
Chr10:92628890 [GRCh38]
Chr10:94388647 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2500G>A (p.Val834Ile) |
single nucleotide variant |
not provided [RCV002295641] |
Chr10:92645595 [GRCh38]
Chr10:94405352 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1066G>C (p.Ala356Pro) |
single nucleotide variant |
not provided [RCV002308846] |
Chr10:92616770 [GRCh38]
Chr10:94376527 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1494+8C>T |
single nucleotide variant |
not specified [RCV002302516] |
Chr10:92630372 [GRCh38]
Chr10:94390129 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2181T>A (p.Asn727Lys) |
single nucleotide variant |
not provided [RCV002299691] |
Chr10:92639814 [GRCh38]
Chr10:94399571 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1719C>T (p.Ser573=) |
single nucleotide variant |
not provided [RCV002816593] |
Chr10:92633639 [GRCh38]
Chr10:94393396 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1898T>G (p.Leu633Arg) |
single nucleotide variant |
not provided [RCV002995788] |
Chr10:92637206 [GRCh38]
Chr10:94396963 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2054A>G (p.Asn685Ser) |
single nucleotide variant |
not provided [RCV002613882] |
Chr10:92637439 [GRCh38]
Chr10:94397196 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2604A>G (p.Gly868=) |
single nucleotide variant |
not provided [RCV002681635] |
Chr10:92648268 [GRCh38]
Chr10:94408025 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1068A>C (p.Ala356=) |
single nucleotide variant |
not provided [RCV002726631] |
Chr10:92616772 [GRCh38]
Chr10:94376529 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1011_1032+5dup |
duplication |
not provided [RCV002882272] |
Chr10:92613597..92613598 [GRCh38]
Chr10:94373354..94373355 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.445G>C (p.Asp149His) |
single nucleotide variant |
not provided [RCV003017204] |
Chr10:92609077 [GRCh38]
Chr10:94368834 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2069A>G (p.Gln690Arg) |
single nucleotide variant |
not provided [RCV002908347] |
Chr10:92637454 [GRCh38]
Chr10:94397211 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2418C>T (p.Gly806=) |
single nucleotide variant |
not provided [RCV002756506] |
Chr10:92645513 [GRCh38]
Chr10:94405270 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2573C>G (p.Ser858Ter) |
single nucleotide variant |
not provided [RCV002857932] |
Chr10:92648237 [GRCh38]
Chr10:94407994 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2212G>A (p.Glu738Lys) |
single nucleotide variant |
not provided [RCV002618791] |
Chr10:92639845 [GRCh38]
Chr10:94399602 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2984C>T (p.Pro995Leu) |
single nucleotide variant |
not provided [RCV002686328] |
Chr10:92650462 [GRCh38]
Chr10:94410219 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1641dup (p.Leu548fs) |
duplication |
not provided [RCV003016425] |
Chr10:92632630..92632631 [GRCh38]
Chr10:94392387..94392388 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2770+5T>C |
single nucleotide variant |
not provided [RCV002751037] |
Chr10:92648439 [GRCh38]
Chr10:94408196 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.699-21_699-20delinsAC |
indel |
not provided [RCV002842230] |
Chr10:92613019..92613020 [GRCh38]
Chr10:94372776..94372777 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1128+20G>C |
single nucleotide variant |
not provided [RCV002971300] |
Chr10:92616852 [GRCh38]
Chr10:94376609 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2548-90_2548-89insAAAAAAAAAAAAAAAAAA |
insertion |
not provided [RCV002461676] |
Chr10:92648108..92648109 [GRCh38]
Chr10:94407865..94407866 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.229A>G (p.Lys77Glu) |
single nucleotide variant |
not provided [RCV003015521] |
Chr10:92606637 [GRCh38]
Chr10:94366394 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.326C>G (p.Thr109Ser) |
single nucleotide variant |
not provided [RCV002462365] |
Chr10:92607176 [GRCh38]
Chr10:94366933 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1656C>T (p.Gly552=) |
single nucleotide variant |
not provided [RCV002755204] |
Chr10:92632647 [GRCh38]
Chr10:94392404 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.98G>A (p.Arg33Gln) |
single nucleotide variant |
not provided [RCV002696285] |
Chr10:92606285 [GRCh38]
Chr10:94366042 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.539A>G (p.Glu180Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002736912] |
Chr10:92609171 [GRCh38]
Chr10:94368928 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1915A>T (p.Ile639Phe) |
single nucleotide variant |
not provided [RCV002927877] |
Chr10:92637223 [GRCh38]
Chr10:94396980 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1033-8C>T |
single nucleotide variant |
not provided [RCV003036308] |
Chr10:92616729 [GRCh38]
Chr10:94376486 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3014C>T (p.Ser1005Leu) |
single nucleotide variant |
not provided [RCV002637301] |
Chr10:92650492 [GRCh38]
Chr10:94410249 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2713G>A (p.Gly905Ser) |
single nucleotide variant |
not provided [RCV003055767] |
Chr10:92648377 [GRCh38]
Chr10:94408134 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2864A>G (p.Gln955Arg) |
single nucleotide variant |
not provided [RCV002569893] |
Chr10:92649928 [GRCh38]
Chr10:94409685 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2293A>G (p.Met765Val) |
single nucleotide variant |
not provided [RCV002889614] |
Chr10:92645388 [GRCh38]
Chr10:94405145 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.435G>A (p.Glu145=) |
single nucleotide variant |
not provided [RCV002592237] |
Chr10:92609067 [GRCh38]
Chr10:94368824 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.77+20G>T |
single nucleotide variant |
not provided [RCV003054132] |
Chr10:92593472 [GRCh38]
Chr10:94353229 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1923C>T (p.Ser641=) |
single nucleotide variant |
not provided [RCV002867463] |
Chr10:92637231 [GRCh38]
Chr10:94396988 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2573C>T (p.Ser858Leu) |
single nucleotide variant |
not provided [RCV002622354] |
Chr10:92648237 [GRCh38]
Chr10:94407994 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3086C>T (p.Thr1029Ile) |
single nucleotide variant |
not provided [RCV002690665] |
Chr10:92653711 [GRCh38]
Chr10:94413468 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2318G>T (p.Cys773Phe) |
single nucleotide variant |
not provided [RCV002912500] |
Chr10:92645413 [GRCh38]
Chr10:94405170 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1230A>C (p.Gly410=) |
single nucleotide variant |
not provided [RCV002760373] |
Chr10:92628820 [GRCh38]
Chr10:94388577 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.77+7A>C |
single nucleotide variant |
not provided [RCV002867420] |
Chr10:92593459 [GRCh38]
Chr10:94353216 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2891G>A (p.Cys964Tyr) |
single nucleotide variant |
not provided [RCV003100436] |
Chr10:92649955 [GRCh38]
Chr10:94409712 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2922+20T>C |
single nucleotide variant |
not provided [RCV002885190] |
Chr10:92650006 [GRCh38]
Chr10:94409763 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2876T>A (p.Leu959Ter) |
single nucleotide variant |
not provided [RCV002923342] |
Chr10:92649940 [GRCh38]
Chr10:94409697 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.3158A>G (p.Gln1053Arg) |
single nucleotide variant |
not provided [RCV002909872] |
Chr10:92653783 [GRCh38]
Chr10:94413540 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.566G>A (p.Arg189His) |
single nucleotide variant |
not provided [RCV003035644] |
Chr10:92609198 [GRCh38]
Chr10:94368955 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2922+4A>T |
single nucleotide variant |
not provided [RCV002949117] |
Chr10:92649990 [GRCh38]
Chr10:94409747 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3039+8A>C |
single nucleotide variant |
not provided [RCV003019368] |
Chr10:92650525 [GRCh38]
Chr10:94410282 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1333A>T (p.Asn445Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002692172] |
Chr10:92630203 [GRCh38]
Chr10:94389960 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.220G>A (p.Ala74Thr) |
single nucleotide variant |
not provided [RCV002571115] |
Chr10:92606628 [GRCh38]
Chr10:94366385 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.45G>A (p.Lys15=) |
single nucleotide variant |
not provided [RCV003038103] |
Chr10:92593420 [GRCh38]
Chr10:94353177 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2632A>G (p.Asn878Asp) |
single nucleotide variant |
not provided [RCV002846268] |
Chr10:92648296 [GRCh38]
Chr10:94408053 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1194G>A (p.Val398=) |
single nucleotide variant |
not provided [RCV002796867] |
Chr10:92621450 [GRCh38]
Chr10:94381207 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1101G>A (p.Gln367=) |
single nucleotide variant |
not provided [RCV002927567] |
Chr10:92616805 [GRCh38]
Chr10:94376562 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1172C>T (p.Ala391Val) |
single nucleotide variant |
not provided [RCV002796232] |
Chr10:92621428 [GRCh38]
Chr10:94381185 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2392G>C (p.Val798Leu) |
single nucleotide variant |
not provided [RCV003054207] |
Chr10:92645487 [GRCh38]
Chr10:94405244 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.210+6A>G |
single nucleotide variant |
not provided [RCV002821064] |
Chr10:92606403 [GRCh38]
Chr10:94366160 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2039G>A (p.Ser680Asn) |
single nucleotide variant |
not provided [RCV002695069] |
Chr10:92637424 [GRCh38]
Chr10:94397181 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1521A>G (p.Thr507=) |
single nucleotide variant |
not provided [RCV002590816] |
Chr10:92632512 [GRCh38]
Chr10:94392269 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.204T>C (p.Phe68=) |
single nucleotide variant |
not provided [RCV003059637] |
Chr10:92606391 [GRCh38]
Chr10:94366148 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1943T>C (p.Leu648Pro) |
single nucleotide variant |
not provided [RCV002766702] |
Chr10:92637251 [GRCh38]
Chr10:94397008 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1090G>T (p.Glu364Ter) |
single nucleotide variant |
not provided [RCV002791398] |
Chr10:92616794 [GRCh38]
Chr10:94376551 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2266C>A (p.Gln756Lys) |
single nucleotide variant |
not provided [RCV002745714] |
Chr10:92639899 [GRCh38]
Chr10:94399656 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.89T>A (p.Leu30Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002789990] |
Chr10:92606276 [GRCh38]
Chr10:94366033 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.969T>C (p.Ser323=) |
single nucleotide variant |
not provided [RCV002625886] |
Chr10:92613556 [GRCh38]
Chr10:94373313 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1562A>T (p.Lys521Met) |
single nucleotide variant |
not provided [RCV002700545] |
Chr10:92632553 [GRCh38]
Chr10:94392310 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1280G>T (p.Gly427Val) |
single nucleotide variant |
not provided [RCV002701048] |
Chr10:92628870 [GRCh38]
Chr10:94388627 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2160+4T>C |
single nucleotide variant |
not provided [RCV002626048] |
Chr10:92637549 [GRCh38]
Chr10:94397306 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.933T>A (p.Tyr311Ter) |
single nucleotide variant |
not provided [RCV003022746] |
Chr10:92613520 [GRCh38]
Chr10:94373277 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.3048A>G (p.Lys1016=) |
single nucleotide variant |
not provided [RCV002765939] |
Chr10:92653673 [GRCh38]
Chr10:94413430 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2802C>T (p.Tyr934=) |
single nucleotide variant |
not provided [RCV002573911] |
Chr10:92649866 [GRCh38]
Chr10:94409623 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.961C>T (p.Gln321Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV002789991] |
Chr10:92613548 [GRCh38]
Chr10:94373305 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.5C>T (p.Ala2Val) |
single nucleotide variant |
not provided [RCV002801431] |
Chr10:92593380 [GRCh38]
Chr10:94353137 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1256T>A (p.Ile419Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003004881] |
Chr10:92628846 [GRCh38]
Chr10:94388603 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1950del (p.Asn651fs) |
deletion |
not provided [RCV002985247] |
Chr10:92637258 [GRCh38]
Chr10:94397015 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1876-18G>C |
single nucleotide variant |
not provided [RCV002712028]|not specified [RCV003388126] |
Chr10:92637166 [GRCh38]
Chr10:94396923 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1129-10T>C |
single nucleotide variant |
not provided [RCV002828831] |
Chr10:92621375 [GRCh38]
Chr10:94381132 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.573+20T>A |
single nucleotide variant |
not provided [RCV002667859] |
Chr10:92609225 [GRCh38]
Chr10:94368982 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2884C>T (p.Leu962=) |
single nucleotide variant |
not provided [RCV002625435] |
Chr10:92649948 [GRCh38]
Chr10:94409705 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.774C>T (p.Ile258=) |
single nucleotide variant |
not provided [RCV002711761] |
Chr10:92613115 [GRCh38]
Chr10:94372872 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2260A>G (p.Ile754Val) |
single nucleotide variant |
not provided [RCV003059160] |
Chr10:92639893 [GRCh38]
Chr10:94399650 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.174T>C (p.Ala58=) |
single nucleotide variant |
not provided [RCV002918636] |
Chr10:92606361 [GRCh38]
Chr10:94366118 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3039+9dup |
duplication |
not provided [RCV002667140] |
Chr10:92650525..92650526 [GRCh38]
Chr10:94410282..94410283 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1158A>G (p.Lys386=) |
single nucleotide variant |
not provided [RCV003040999] |
Chr10:92621414 [GRCh38]
Chr10:94381171 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2002-17T>G |
single nucleotide variant |
not provided [RCV002829997] |
Chr10:92637370 [GRCh38]
Chr10:94397127 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2674A>G (p.Ile892Val) |
single nucleotide variant |
not provided [RCV002851609] |
Chr10:92648338 [GRCh38]
Chr10:94408095 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2080A>G (p.Ile694Val) |
single nucleotide variant |
not provided [RCV003006305] |
Chr10:92637465 [GRCh38]
Chr10:94397222 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2667T>C (p.Asp889=) |
single nucleotide variant |
not provided [RCV002650565] |
Chr10:92648331 [GRCh38]
Chr10:94408088 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1516A>G (p.Thr506Ala) |
single nucleotide variant |
not provided [RCV003044936] |
Chr10:92632507 [GRCh38]
Chr10:94392264 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2160+5G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003455563]|not provided [RCV002720983] |
Chr10:92637550 [GRCh38]
Chr10:94397307 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.211-14dup |
duplication |
not provided [RCV002720013] |
Chr10:92606603..92606604 [GRCh38]
Chr10:94366360..94366361 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3096G>A (p.Arg1032=) |
single nucleotide variant |
not provided [RCV002630991] |
Chr10:92653721 [GRCh38]
Chr10:94413478 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2811A>C (p.Thr937=) |
single nucleotide variant |
not provided [RCV002937597] |
Chr10:92649875 [GRCh38]
Chr10:94409632 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1779A>C (p.Pro593=) |
single nucleotide variant |
not provided [RCV002966379] |
Chr10:92633699 [GRCh38]
Chr10:94393456 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.105T>C (p.Ala35=) |
single nucleotide variant |
not provided [RCV002900362] |
Chr10:92606292 [GRCh38]
Chr10:94366049 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1623G>A (p.Leu541=) |
single nucleotide variant |
not provided [RCV003049268] |
Chr10:92632614 [GRCh38]
Chr10:94392371 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1137G>A (p.Thr379=) |
single nucleotide variant |
not provided [RCV002578670] |
Chr10:92621393 [GRCh38]
Chr10:94381150 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.78-3T>C |
single nucleotide variant |
not provided [RCV002806557] |
Chr10:92606262 [GRCh38]
Chr10:94366019 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2138_2139del (p.Thr713fs) |
deletion |
not provided [RCV002856509] |
Chr10:92637522..92637523 [GRCh38]
Chr10:94397279..94397280 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2633A>G (p.Asn878Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002855950] |
Chr10:92648297 [GRCh38]
Chr10:94408054 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.813C>T (p.Asn271=) |
single nucleotide variant |
not provided [RCV002646529] |
Chr10:92613400 [GRCh38]
Chr10:94373157 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2118C>T (p.Asn706=) |
single nucleotide variant |
KIF11-related disorder [RCV003963321]|not provided [RCV002670750] |
Chr10:92637503 [GRCh38]
Chr10:94397260 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.675T>C (p.Ala225=) |
single nucleotide variant |
not provided [RCV002629211] |
Chr10:92609486 [GRCh38]
Chr10:94369243 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1683_1684insCA (p.Val562fs) |
insertion |
not provided [RCV003029422] |
Chr10:92632673..92632674 [GRCh38]
Chr10:94392430..94392431 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2849A>G (p.Gln950Arg) |
single nucleotide variant |
not provided [RCV003028875] |
Chr10:92649913 [GRCh38]
Chr10:94409670 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1218-11C>G |
single nucleotide variant |
not provided [RCV002834761] |
Chr10:92628797 [GRCh38]
Chr10:94388554 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2341C>G (p.Gln781Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002809602] |
Chr10:92645436 [GRCh38]
Chr10:94405193 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.210+14C>A |
single nucleotide variant |
not provided [RCV002856985] |
Chr10:92606411 [GRCh38]
Chr10:94366168 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2599G>A (p.Asp867Asn) |
single nucleotide variant |
not provided [RCV002746730] |
Chr10:92648263 [GRCh38]
Chr10:94408020 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2550del (p.Val850_Val851insTer) |
deletion |
not provided [RCV003044291] |
Chr10:92648213 [GRCh38]
Chr10:94407970 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2922+18T>C |
single nucleotide variant |
not provided [RCV002581091] |
Chr10:92650004 [GRCh38]
Chr10:94409761 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.988A>G (p.Thr330Ala) |
single nucleotide variant |
not provided [RCV002832903] |
Chr10:92613575 [GRCh38]
Chr10:94373332 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2263C>T (p.Gln755Ter) |
single nucleotide variant |
not provided [RCV002835140] |
Chr10:92639896 [GRCh38]
Chr10:94399653 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1464T>C (p.Thr488=) |
single nucleotide variant |
not provided [RCV002770273] |
Chr10:92630334 [GRCh38]
Chr10:94390091 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1129-18A>G |
single nucleotide variant |
not provided [RCV003008385] |
Chr10:92621367 [GRCh38]
Chr10:94381124 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2160+14C>T |
single nucleotide variant |
not provided [RCV002630588] |
Chr10:92637559 [GRCh38]
Chr10:94397316 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1128+5C>T |
single nucleotide variant |
not provided [RCV002631389] |
Chr10:92616837 [GRCh38]
Chr10:94376594 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1047A>G (p.Thr349=) |
single nucleotide variant |
not provided [RCV002647079] |
Chr10:92616751 [GRCh38]
Chr10:94376508 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.41A>C (p.Glu14Ala) |
single nucleotide variant |
not provided [RCV002650766] |
Chr10:92593416 [GRCh38]
Chr10:94353173 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2415T>C (p.Asn805=) |
single nucleotide variant |
not provided [RCV002810965] |
Chr10:92645510 [GRCh38]
Chr10:94405267 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.69G>C (p.Val23=) |
single nucleotide variant |
not provided [RCV002646648] |
Chr10:92593444 [GRCh38]
Chr10:94353201 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1128+8_1128+9del |
microsatellite |
not provided [RCV002715669] |
Chr10:92616838..92616839 [GRCh38]
Chr10:94376595..94376596 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2258A>G (p.Asn753Ser) |
single nucleotide variant |
not provided [RCV002899413] |
Chr10:92639891 [GRCh38]
Chr10:94399648 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1894C>G (p.Leu632Val) |
single nucleotide variant |
not provided [RCV002600419] |
Chr10:92637202 [GRCh38]
Chr10:94396959 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1949T>C (p.Ile650Thr) |
single nucleotide variant |
not provided [RCV002636035] |
Chr10:92637257 [GRCh38]
Chr10:94397014 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1505C>T (p.Thr502Ile) |
single nucleotide variant |
not provided [RCV002725497] |
Chr10:92632496 [GRCh38]
Chr10:94392253 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.572A>G (p.Lys191Arg) |
single nucleotide variant |
not provided [RCV002604099] |
Chr10:92609204 [GRCh38]
Chr10:94368961 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2472A>C (p.Thr824=) |
single nucleotide variant |
not provided [RCV002583530] |
Chr10:92645567 [GRCh38]
Chr10:94405324 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1674C>T (p.Ala558=) |
single nucleotide variant |
KIF11-related disorder [RCV004753643]|not provided [RCV002633654] |
Chr10:92632665 [GRCh38]
Chr10:94392422 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.388-14T>C |
single nucleotide variant |
not provided [RCV002605474] |
Chr10:92609006 [GRCh38]
Chr10:94368763 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2684dup (p.Asn895fs) |
duplication |
not provided [RCV002942370] |
Chr10:92648344..92648345 [GRCh38]
Chr10:94408101..94408102 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.78-14A>G |
single nucleotide variant |
not provided [RCV002653955] |
Chr10:92606251 [GRCh38]
Chr10:94366008 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.835G>A (p.Asp279Asn) |
single nucleotide variant |
not provided [RCV003149176] |
Chr10:92613422 [GRCh38]
Chr10:94373179 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2923-7C>T |
single nucleotide variant |
not provided [RCV002814389] |
Chr10:92650394 [GRCh38]
Chr10:94410151 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2922+8T>G |
single nucleotide variant |
not provided [RCV002587795] |
Chr10:92649994 [GRCh38]
Chr10:94409751 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.30G>A (p.Lys10=) |
single nucleotide variant |
not provided [RCV002814749] |
Chr10:92593405 [GRCh38]
Chr10:94353162 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1288G>C (p.Glu430Gln) |
single nucleotide variant |
KIF11-related disorder [RCV003393200] |
Chr10:92628878 [GRCh38]
Chr10:94388635 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1879G>A (p.Val627Ile) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003133874] |
Chr10:92637187 [GRCh38]
Chr10:94396944 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2704A>G (p.Ile902Val) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003133873] |
Chr10:92648368 [GRCh38]
Chr10:94408125 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2267+1G>A |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003226073] |
Chr10:92639901 [GRCh38]
Chr10:94399658 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1 |
copy number loss |
See cases [RCV003159569] |
Chr10:93281410..97596360 [GRCh37]
Chr10:10q23.32-24.1 |
pathogenic |
| NM_004523.4(KIF11):c.1875+6T>G |
single nucleotide variant |
not provided [RCV003159452] |
Chr10:92633801 [GRCh38]
Chr10:94393558 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3067_3070del (p.Glu1023fs) |
deletion |
not provided [RCV003218953] |
Chr10:92653689..92653692 [GRCh38]
Chr10:94413446..94413449 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3 |
pathogenic |
| GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3 |
pathogenic |
| NM_004523.4(KIF11):c.2921dup (p.Asp975fs) |
duplication |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003330301] |
Chr10:92649983..92649984 [GRCh38]
Chr10:94409740..94409741 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.388-6T>G |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003333854] |
Chr10:92609014 [GRCh38]
Chr10:94368771 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.923dup (p.His308fs) |
duplication |
not provided [RCV003543315] |
Chr10:92613509..92613510 [GRCh38]
Chr10:94373266..94373267 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.3023G>A (p.Gly1008Glu) |
single nucleotide variant |
not provided [RCV003570444] |
Chr10:92650501 [GRCh38]
Chr10:94410258 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.118A>G (p.Ile40Val) |
single nucleotide variant |
KIF11-related disorder [RCV003397673] |
Chr10:92606305 [GRCh38]
Chr10:94366062 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 |
copy number gain |
not provided [RCV003484798] |
Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2 |
pathogenic |
| GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3 |
copy number gain |
not provided [RCV003484809] |
Chr10:93788061..96452666 [GRCh37]
Chr10:10q23.32-23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2548-13G>A |
single nucleotide variant |
not provided [RCV003826307] |
Chr10:92648199 [GRCh38]
Chr10:94407956 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2440G>T (p.Glu814Ter) |
single nucleotide variant |
KIF11-related disorder [RCV003402518] |
Chr10:92645535 [GRCh38]
Chr10:94405292 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.532G>C (p.Val178Leu) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003448875] |
Chr10:92609164 [GRCh38]
Chr10:94368921 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1611C>A (p.Asn537Lys) |
single nucleotide variant |
KIF11-related disorder [RCV003404365] |
Chr10:92632602 [GRCh38]
Chr10:94392359 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2364A>G (p.Gln788=) |
single nucleotide variant |
not provided [RCV003422725] |
Chr10:92645459 [GRCh38]
Chr10:94405216 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3054T>C (p.His1018=) |
single nucleotide variant |
not provided [RCV003422726] |
Chr10:92653679 [GRCh38]
Chr10:94413436 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.917C>T (p.Thr306Ile) |
single nucleotide variant |
not provided [RCV003441289] |
Chr10:92613504 [GRCh38]
Chr10:94373261 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.849G>C (p.Arg283=) |
single nucleotide variant |
not provided [RCV003422724] |
Chr10:92613436 [GRCh38]
Chr10:94373193 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2915C>T (p.Thr972Ile) |
single nucleotide variant |
KIF11-related disorder [RCV003391246] |
Chr10:92649979 [GRCh38]
Chr10:94409736 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.301_302del (p.Ile101fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003494070] |
Chr10:92606708..92606709 [GRCh38]
Chr10:94366465..94366466 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1698A>G (p.Leu566=) |
single nucleotide variant |
not provided [RCV003579275] |
Chr10:92632689 [GRCh38]
Chr10:94392446 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1874T>C (p.Ile625Thr) |
single nucleotide variant |
not provided [RCV003714889] |
Chr10:92633794 [GRCh38]
Chr10:94393551 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1729G>A (p.Ala577Thr) |
single nucleotide variant |
not provided [RCV003579260] |
Chr10:92633649 [GRCh38]
Chr10:94393406 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1867G>T (p.Glu623Ter) |
single nucleotide variant |
not provided [RCV003547565] |
Chr10:92633787 [GRCh38]
Chr10:94393544 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.574-2A>G |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003494079]|not provided [RCV004723340] |
Chr10:92609383 [GRCh38]
Chr10:94369140 [GRCh37]
Chr10:10q23.33 |
pathogenic|likely pathogenic |
| NM_004523.4(KIF11):c.9G>A (p.Ser3=) |
single nucleotide variant |
not provided [RCV003882482] |
Chr10:92593384 [GRCh38]
Chr10:94353141 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1399C>T (p.His467Tyr) |
single nucleotide variant |
not provided [RCV003691124] |
Chr10:92630269 [GRCh38]
Chr10:94390026 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1305+3A>G |
single nucleotide variant |
not provided [RCV003713931] |
Chr10:92628898 [GRCh38]
Chr10:94388655 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.699-4C>T |
single nucleotide variant |
not provided [RCV003715334] |
Chr10:92613036 [GRCh38]
Chr10:94372793 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2920C>A (p.Pro974Thr) |
single nucleotide variant |
not provided [RCV003716641] |
Chr10:92649984 [GRCh38]
Chr10:94409741 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.77+11G>A |
single nucleotide variant |
not provided [RCV003686548] |
Chr10:92593463 [GRCh38]
Chr10:94353220 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1098del (p.Gln367fs) |
deletion |
not provided [RCV003716724] |
Chr10:92616802 [GRCh38]
Chr10:94376559 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1693A>C (p.Thr565Pro) |
single nucleotide variant |
not provided [RCV003544887] |
Chr10:92632684 [GRCh38]
Chr10:94392441 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2938G>T (p.Glu980Ter) |
single nucleotide variant |
not provided [RCV003572277] |
Chr10:92650416 [GRCh38]
Chr10:94410173 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2765C>T (p.Pro922Leu) |
single nucleotide variant |
not provided [RCV003687316] |
Chr10:92648429 [GRCh38]
Chr10:94408186 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1734A>G (p.Leu578=) |
single nucleotide variant |
not provided [RCV003691053] |
Chr10:92633654 [GRCh38]
Chr10:94393411 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1174G>T (p.Ala392Ser) |
single nucleotide variant |
not provided [RCV003547804] |
Chr10:92621430 [GRCh38]
Chr10:94381187 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2680del (p.Gln894fs) |
deletion |
not provided [RCV003713786] |
Chr10:92648344 [GRCh38]
Chr10:94408101 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1691del (p.Lys564fs) |
deletion |
not provided [RCV003572048] |
Chr10:92632681 [GRCh38]
Chr10:94392438 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.2002-13T>C |
single nucleotide variant |
not provided [RCV003834209] |
Chr10:92637374 [GRCh38]
Chr10:94397131 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2564G>C (p.Cys855Ser) |
single nucleotide variant |
not provided [RCV003666395] |
Chr10:92648228 [GRCh38]
Chr10:94407985 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.644A>G (p.Glu215Gly) |
single nucleotide variant |
not provided [RCV003580142] |
Chr10:92609455 [GRCh38]
Chr10:94369212 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2922+16_2922+18del |
deletion |
not provided [RCV003703774] |
Chr10:92650000..92650002 [GRCh38]
Chr10:94409757..94409759 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1460G>A (p.Ser487Asn) |
single nucleotide variant |
not provided [RCV003659531] |
Chr10:92630330 [GRCh38]
Chr10:94390087 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.309-11A>C |
single nucleotide variant |
not provided [RCV003549440] |
Chr10:92607148 [GRCh38]
Chr10:94366905 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.620del (p.Lys207fs) |
deletion |
not provided [RCV003665563] |
Chr10:92609430 [GRCh38]
Chr10:94369187 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.443C>G (p.Thr148Ser) |
single nucleotide variant |
not provided [RCV003663697] |
Chr10:92609075 [GRCh38]
Chr10:94368832 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1305+17A>G |
single nucleotide variant |
not provided [RCV003838545] |
Chr10:92628912 [GRCh38]
Chr10:94388669 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1400A>G (p.His467Arg) |
single nucleotide variant |
not provided [RCV003816175] |
Chr10:92630270 [GRCh38]
Chr10:94390027 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2771-15T>C |
single nucleotide variant |
not provided [RCV003673579] |
Chr10:92649820 [GRCh38]
Chr10:94409577 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1376A>G (p.Gln459Arg) |
single nucleotide variant |
not provided [RCV003817273] |
Chr10:92630246 [GRCh38]
Chr10:94390003 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.226A>G (p.Thr76Ala) |
single nucleotide variant |
not provided [RCV003672241] |
Chr10:92606634 [GRCh38]
Chr10:94366391 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1258G>A (p.Val420Ile) |
single nucleotide variant |
not provided [RCV003669011] |
Chr10:92628848 [GRCh38]
Chr10:94388605 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2160+15G>C |
single nucleotide variant |
not provided [RCV003666728] |
Chr10:92637560 [GRCh38]
Chr10:94397317 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.123A>G (p.Val41=) |
single nucleotide variant |
not provided [RCV003837940] |
Chr10:92606310 [GRCh38]
Chr10:94366067 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2168G>A (p.Cys723Tyr) |
single nucleotide variant |
not provided [RCV003700502] |
Chr10:92639801 [GRCh38]
Chr10:94399558 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.730C>G (p.His244Asp) |
single nucleotide variant |
not provided [RCV003580869] |
Chr10:92613071 [GRCh38]
Chr10:94372828 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3151C>T (p.Arg1051Ter) |
single nucleotide variant |
not provided [RCV003854562] |
Chr10:92653776 [GRCh38]
Chr10:94413533 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2770+20G>C |
single nucleotide variant |
not provided [RCV003814858] |
Chr10:92648454 [GRCh38]
Chr10:94408211 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.3042T>C (p.His1014=) |
single nucleotide variant |
not provided [RCV003845299] |
Chr10:92653667 [GRCh38]
Chr10:94413424 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2970T>C (p.Pro990=) |
single nucleotide variant |
not provided [RCV003729808] |
Chr10:92650448 [GRCh38]
Chr10:94410205 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2898A>C (p.Glu966Asp) |
single nucleotide variant |
not provided [RCV003712032] |
Chr10:92649962 [GRCh38]
Chr10:94409719 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2784G>A (p.Gln928=) |
single nucleotide variant |
not provided [RCV003568063] |
Chr10:92649848 [GRCh38]
Chr10:94409605 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1128+18T>G |
single nucleotide variant |
not provided [RCV003709154] |
Chr10:92616850 [GRCh38]
Chr10:94376607 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1941A>T (p.Ile647=) |
single nucleotide variant |
not provided [RCV003734852] |
Chr10:92637249 [GRCh38]
Chr10:94397006 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.2548-1G>T |
single nucleotide variant |
not provided [RCV003568055] |
Chr10:92648211 [GRCh38]
Chr10:94407968 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1707T>C (p.Asn569=) |
single nucleotide variant |
not provided [RCV003860833] |
Chr10:92633627 [GRCh38]
Chr10:94393384 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1121TTA[1] (p.Ile375del) |
microsatellite |
not provided [RCV003567213] |
Chr10:92616825..92616827 [GRCh38]
Chr10:94376582..94376584 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2986T>C (p.Ser996Pro) |
single nucleotide variant |
not provided [RCV003680757] |
Chr10:92650464 [GRCh38]
Chr10:94410221 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.699-12A>T |
single nucleotide variant |
not provided [RCV003708971] |
Chr10:92613028 [GRCh38]
Chr10:94372785 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1192G>C (p.Val398Leu) |
single nucleotide variant |
not provided [RCV003675499] |
Chr10:92621448 [GRCh38]
Chr10:94381205 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.730C>T (p.His244Tyr) |
single nucleotide variant |
not provided [RCV003557515] |
Chr10:92613071 [GRCh38]
Chr10:94372828 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2866C>G (p.Pro956Ala) |
single nucleotide variant |
not provided [RCV003709671] |
Chr10:92649930 [GRCh38]
Chr10:94409687 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1480G>C (p.Asp494His) |
single nucleotide variant |
not provided [RCV003552114] |
Chr10:92630350 [GRCh38]
Chr10:94390107 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3022G>A (p.Gly1008Arg) |
single nucleotide variant |
not provided [RCV003865877] |
Chr10:92650500 [GRCh38]
Chr10:94410257 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1769C>T (p.Thr590Ile) |
single nucleotide variant |
not provided [RCV003682903] |
Chr10:92633689 [GRCh38]
Chr10:94393446 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1876-4C>A |
single nucleotide variant |
not provided [RCV003684581] |
Chr10:92637180 [GRCh38]
Chr10:94396937 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.891G>A (p.Arg297=) |
single nucleotide variant |
not provided [RCV003678245] |
Chr10:92613478 [GRCh38]
Chr10:94373235 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1032+5G>A |
single nucleotide variant |
not provided [RCV003685057] |
Chr10:92613624 [GRCh38]
Chr10:94373381 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.372G>A (p.Glu124=) |
single nucleotide variant |
not provided [RCV003676658] |
Chr10:92607222 [GRCh38]
Chr10:94366979 [GRCh37]
Chr10:10q23.33 |
likely benign |
| GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1 |
copy number loss |
not specified [RCV003986912] |
Chr10:94283369..101820913 [GRCh37]
Chr10:10q23.33-24.2 |
pathogenic |
| GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1 |
copy number loss |
not specified [RCV003986861] |
Chr10:90796994..100067505 [GRCh37]
Chr10:10q23.31-24.2 |
pathogenic |
| NM_004523.4(KIF11):c.1013C>T (p.Pro338Leu) |
single nucleotide variant |
not provided [RCV003684980] |
Chr10:92613600 [GRCh38]
Chr10:94373357 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.312T>C (p.Tyr104=) |
single nucleotide variant |
not provided [RCV003674633] |
Chr10:92607162 [GRCh38]
Chr10:94366919 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2362C>T (p.Gln788Ter) |
single nucleotide variant |
not provided [RCV003557516] |
Chr10:92645457 [GRCh38]
Chr10:94405214 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1147G>A (p.Glu383Lys) |
single nucleotide variant |
not provided [RCV003675886] |
Chr10:92621403 [GRCh38]
Chr10:94381160 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.480G>C (p.Leu160=) |
single nucleotide variant |
not provided [RCV003681060] |
Chr10:92609112 [GRCh38]
Chr10:94368869 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1345C>T (p.Gln449Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003986048] |
Chr10:92630215 [GRCh38]
Chr10:94389972 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.3003G>A (p.Val1001=) |
single nucleotide variant |
not provided [RCV003861907] |
Chr10:92650481 [GRCh38]
Chr10:94410238 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1592A>T (p.Gln531Leu) |
single nucleotide variant |
not provided [RCV003842583] |
Chr10:92632583 [GRCh38]
Chr10:94392340 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1204G>C (p.Glu402Gln) |
single nucleotide variant |
not provided [RCV003847114] |
Chr10:92621460 [GRCh38]
Chr10:94381217 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1128+12T>A |
single nucleotide variant |
not provided [RCV003680654] |
Chr10:92616844 [GRCh38]
Chr10:94376601 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.152G>A (p.Ser51Asn) |
single nucleotide variant |
not provided [RCV003865170] |
Chr10:92606339 [GRCh38]
Chr10:94366096 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1495-15T>C |
single nucleotide variant |
not provided [RCV003823351] |
Chr10:92632471 [GRCh38]
Chr10:94392228 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.211-5G>A |
single nucleotide variant |
not provided [RCV003734518] |
Chr10:92606614 [GRCh38]
Chr10:94366371 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1033-15del |
deletion |
not provided [RCV003711601] |
Chr10:92616720 [GRCh38]
Chr10:94376477 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1869A>G (p.Glu623=) |
single nucleotide variant |
not provided [RCV003707544] |
Chr10:92633789 [GRCh38]
Chr10:94393546 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.308+12G>T |
single nucleotide variant |
not provided [RCV003564715] |
Chr10:92606728 [GRCh38]
Chr10:94366485 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.2815G>A (p.Val939Ile) |
single nucleotide variant |
not provided [RCV003858319] |
Chr10:92649879 [GRCh38]
Chr10:94409636 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3162C>G (p.Ile1054Met) |
single nucleotide variant |
not provided [RCV003552046] |
Chr10:92653787 [GRCh38]
Chr10:94413544 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1129-11C>A |
single nucleotide variant |
not provided [RCV003681589] |
Chr10:92621374 [GRCh38]
Chr10:94381131 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.264A>G (p.Pro88=) |
single nucleotide variant |
not provided [RCV003843740] |
Chr10:92606672 [GRCh38]
Chr10:94366429 [GRCh37]
Chr10:10q23.33 |
benign |
| NM_004523.4(KIF11):c.1727_1728del (p.Ser576fs) |
microsatellite |
not provided [RCV003568648] |
Chr10:92633644..92633645 [GRCh38]
Chr10:94393401..94393402 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1021C>G (p.Leu341Val) |
single nucleotide variant |
not provided [RCV003677576] |
Chr10:92613608 [GRCh38]
Chr10:94373365 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.78A>G (p.Arg26=) |
single nucleotide variant |
not provided [RCV003887257] |
Chr10:92606265 [GRCh38]
Chr10:94366022 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.1304G>A (p.Arg435Lys) |
single nucleotide variant |
not specified [RCV004526552] |
Chr10:92628894 [GRCh38]
Chr10:94388651 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.489del (p.Tyr164fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003988698] |
Chr10:92609121 [GRCh38]
Chr10:94368878 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1235T>G (p.Leu412Ter) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV003988930] |
Chr10:92628825 [GRCh38]
Chr10:94388582 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.1071G>T (p.Lys357Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004411726] |
Chr10:92616775 [GRCh38]
Chr10:94376532 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1163A>C (p.Asp388Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004411727] |
Chr10:92621419 [GRCh38]
Chr10:94381176 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1774A>G (p.Ile592Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004411728] |
Chr10:92633694 [GRCh38]
Chr10:94393451 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1876A>C (p.Asn626His) |
single nucleotide variant |
Inborn genetic diseases [RCV004411729] |
Chr10:92637184 [GRCh38]
Chr10:94396941 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1963A>C (p.Lys655Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004411731] |
Chr10:92637271 [GRCh38]
Chr10:94397028 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NC_000010.10:g.(?_94381122)_(94381250_?)del |
deletion |
not provided [RCV004581736] |
Chr10:94381122..94381250 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NC_000010.10:g.(?_94368757)_(94399677_?)del |
deletion |
not provided [RCV004581737] |
Chr10:94368757..94399677 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NC_000010.10:g.(?_94353133)_(94353229_?)dup |
duplication |
not provided [RCV004581739] |
Chr10:94353133..94353229 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.909A>C (p.Val303=) |
single nucleotide variant |
not provided [RCV004575361] |
Chr10:92613496 [GRCh38]
Chr10:94373253 [GRCh37]
Chr10:10q23.33 |
likely benign |
| NM_004523.4(KIF11):c.230A>G (p.Lys77Arg) |
single nucleotide variant |
not provided [RCV004599069] |
Chr10:92606638 [GRCh38]
Chr10:94366395 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2598_2601del (p.Gly868fs) |
deletion |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV004596025] |
Chr10:92648262..92648265 [GRCh38]
Chr10:94408019..94408022 [GRCh37]
Chr10:10q23.33 |
likely pathogenic |
| NM_004523.4(KIF11):c.2804C>T (p.Pro935Leu) |
single nucleotide variant |
Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability [RCV004594727] |
Chr10:92649868 [GRCh38]
Chr10:94409625 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1945A>G (p.Lys649Glu) |
single nucleotide variant |
not provided [RCV004585881] |
Chr10:92637253 [GRCh38]
Chr10:94397010 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.3152G>T (p.Arg1051Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004631157] |
Chr10:92653777 [GRCh38]
Chr10:94413534 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1516A>T (p.Thr506Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004631158] |
Chr10:92632507 [GRCh38]
Chr10:94392264 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.463_475delinsATAGA (p.Ser155fs) |
indel |
not provided [RCV004599203] |
Chr10:92609095..92609107 [GRCh38]
Chr10:94368852..94368864 [GRCh37]
Chr10:10q23.33 |
pathogenic |
| NM_004523.4(KIF11):c.1888A>C (p.Thr630Pro) |
single nucleotide variant |
not provided [RCV004772376] |
Chr10:92637196 [GRCh38]
Chr10:94396953 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.2324A>C (p.Asp775Ala) |
single nucleotide variant |
not provided [RCV004727283] |
Chr10:92645419 [GRCh38]
Chr10:94405176 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.904C>T (p.Leu302Phe) |
single nucleotide variant |
KIF11-related disorder [RCV004731878] |
Chr10:92613491 [GRCh38]
Chr10:94373248 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.412C>T (p.Arg138Cys) |
single nucleotide variant |
not provided [RCV004727721] |
Chr10:92609044 [GRCh38]
Chr10:94368801 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
| NM_004523.4(KIF11):c.1244A>T (p.Gln415Leu) |
single nucleotide variant |
not provided [RCV004776106] |
Chr10:92628834 [GRCh38]
Chr10:94388591 [GRCh37]
Chr10:10q23.33 |
uncertain significance |
