KIF11 — 1083 ClinVar variants
All ClinVar germline KIF11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 325 flagged for review →
117 Pathogenic · 16 Pathogenic/Likely pathogenic · 76 Likely pathogenic · 38 Conflicting · 74 Benign · 34 Benign/Likely benign · 364 Likely benign · 364 Uncertain significance
Full KIF11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 325
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 22
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KIF11 p.Ala484Thr
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Ala530Thr
Conflicting
Single submitter
Inborn genetic diseases
- KIF11 p.Arg33Gln Conflicting Single submitter
- KIF11 p.Gln950Arg Conflicting Single submitter
-
KIF11 p.Glu479Gln
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Glu561Lys
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Gly1026Val
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Ile250Thr
Conflicting
Single submitter
hereditary ataxia
-
KIF11 p.Ile400Met
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Ile592Val
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Ile879Val
Conflicting
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Ile886Val Conflicting Single submitter
-
KIF11 p.Leu697Val
Conflicting
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
-
KIF11 p.Lys673Met
Conflicting
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Lys702Asn Conflicting Single submitter
-
KIF11 p.Met545Thr
Conflicting
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
-
KIF11 p.Ser1005Leu
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Ser235Cys
Conflicting
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
-
KIF11 p.Ser591Cys
Conflicting
Single submitter
Inborn genetic diseases
- KIF11 p.Thr152Ile Conflicting Single submitter
-
KIF11 p.Thr463Ser
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Thr65Ala
Conflicting
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 260
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 260
- KIF11 p.Arg1025Gly Uncertain significance Multiple submitters
-
KIF11 p.Arg327Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Arg944His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Asn445Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Asn595Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KIF11 p.Asp524Asn Uncertain significance Multiple submitters
-
KIF11 p.Asp760Val
Uncertain significance
Multiple submitters
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
-
KIF11 p.Cys964Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Glu1036Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Glu864Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KIF11 p.Glu945Lys Uncertain significance Multiple submitters
- KIF11 p.His687Tyr Uncertain significance Multiple submitters
-
KIF11 p.His946Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Ile143Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Ile359Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Ile681Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Ile892Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Leu1056Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Lys520Arg
Uncertain significance
Multiple submitters
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Lys757Glu Uncertain significance Multiple submitters
-
KIF11 p.Lys969Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KIF11 p.Met245Val
Uncertain significance
Multiple submitters
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Met545Val Uncertain significance Multiple submitters
-
KIF11 p.Met559Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KIF11 p.Ser487Ile Uncertain significance Multiple submitters
-
KIF11 p.Thr717Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KIF11 p.Val834Ile Uncertain significance Multiple submitters
- KIF11 p.Ala103Val Uncertain significance Single submitter
- KIF11 p.Ala133Thr Uncertain significance Single submitter
- KIF11 p.Ala224Val Uncertain significance Single submitter
- KIF11 p.Ala2Val Uncertain significance Single submitter
- KIF11 p.Ala339Val Uncertain significance Single submitter
- KIF11 p.Ala356Pro Uncertain significance Single submitter
- KIF11 p.Ala373Thr Uncertain significance Single submitter
-
KIF11 p.Ala37Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Ala391Val Uncertain significance Single submitter
- KIF11 p.Ala392Ser Uncertain significance Single submitter
- KIF11 p.Ala484Val Uncertain significance Single submitter
- KIF11 p.Ala558Thr Uncertain significance Single submitter
- KIF11 p.Ala577Thr Uncertain significance Single submitter
- KIF11 p.Ala615Val Uncertain significance Single submitter
- KIF11 p.Ala857Thr Uncertain significance Single submitter
- KIF11 p.Ala981Val Uncertain significance Single submitter
- KIF11 p.Ala9Gly Uncertain significance Single submitter
- KIF11 p.Arg1051Gly Uncertain significance Single submitter
-
KIF11 p.Arg1051Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Arg138Cys Uncertain significance Single submitter
- KIF11 p.Arg138His Uncertain significance Single submitter
- KIF11 p.Arg26Ile Uncertain significance Single submitter
- KIF11 p.Arg384Cys Uncertain significance Single submitter
- KIF11 p.Arg435Lys Uncertain significance Single submitter
- KIF11 p.Arg435Ser Uncertain significance Single submitter
- KIF11 p.Arg83Gln Uncertain significance Single submitter
- KIF11 p.Arg869His Uncertain significance Single submitter
- KIF11 p.Arg953Gly Uncertain significance Single submitter
-
KIF11 p.Asn1028Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Asn206Ser Uncertain significance Single submitter
- KIF11 p.Asn342Ser Uncertain significance Single submitter
- KIF11 p.Asn434Asp Uncertain significance Single submitter
- KIF11 p.Asn456Ser Uncertain significance Single submitter
-
KIF11 p.Asn537Lys
Uncertain significance
Single submitter
KIF11-related disorder
-
KIF11 p.Asn626His
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF11 p.Asn626Ser
Uncertain significance
Single submitter
Usher syndrome
- KIF11 p.Asn706Ser Uncertain significance Single submitter
- KIF11 p.Asn727Asp Uncertain significance Single submitter
- KIF11 p.Asn727His Uncertain significance Single submitter
- KIF11 p.Asn727Lys Uncertain significance Single submitter
- KIF11 p.Asn753Ser Uncertain significance Single submitter
- KIF11 p.Asn753Tyr Uncertain significance Single submitter
- KIF11 p.Asn846Ser Uncertain significance Single submitter
- KIF11 p.Asn878Asp Uncertain significance Single submitter
- KIF11 p.Asn878Ile Uncertain significance Single submitter
-
KIF11 p.Asn878Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Asp149His Uncertain significance Single submitter
-
KIF11 p.Asp388Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Asp448Ala Uncertain significance Single submitter
- KIF11 p.Asp448His Uncertain significance Single submitter
-
KIF11 p.Asp494Asn
Uncertain significance
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Asp494His Uncertain significance Single submitter
-
KIF11 p.Asp676Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Asp69Ala Uncertain significance Single submitter
-
KIF11 p.Asp69Asn
Uncertain significance
Single submitter
long QT syndrome
- KIF11 p.Asp775Ala Uncertain significance Single submitter
-
KIF11 p.Asp777Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Asp867Asn Uncertain significance Single submitter
- KIF11 p.Asp882Asn Uncertain significance Single submitter
-
KIF11 p.Asp889Val
Uncertain significance
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Asp916Gly Uncertain significance Single submitter
-
KIF11 p.Cys450Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Cys723Tyr Uncertain significance Single submitter
- KIF11 p.Cys773Phe Uncertain significance Single submitter
- KIF11 p.Cys855Ser Uncertain significance Single submitter
- KIF11 p.Gln1053Arg Uncertain significance Single submitter
- KIF11 p.Gln418Arg Uncertain significance Single submitter
- KIF11 p.Gln449Arg Uncertain significance Single submitter
- KIF11 p.Gln459Arg Uncertain significance Single submitter
- KIF11 p.Gln4His Uncertain significance Single submitter
- KIF11 p.Gln531Arg Uncertain significance Single submitter
- KIF11 p.Gln531Leu Uncertain significance Single submitter
- KIF11 p.Gln690Arg Uncertain significance Single submitter
- KIF11 p.Gln751Arg Uncertain significance Single submitter
- KIF11 p.Gln756Lys Uncertain significance Single submitter
-
KIF11 p.Gln781Arg
Uncertain significance
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
-
KIF11 p.Gln781Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Gln842Arg Uncertain significance Single submitter
- KIF11 p.Gln842Lys Uncertain significance Single submitter
-
KIF11 p.Glu180Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Glu215Gly Uncertain significance Single submitter
- KIF11 p.Glu383Lys Uncertain significance Single submitter
- KIF11 p.Glu417Gln Uncertain significance Single submitter
-
KIF11 p.Glu430Gln
Uncertain significance
Single submitter
KIF11-related disorder
- KIF11 p.Glu669Asp Uncertain significance Single submitter
- KIF11 p.Glu674Asp Uncertain significance Single submitter
- KIF11 p.Glu738Lys Uncertain significance Single submitter
- KIF11 p.Glu849Gln Uncertain significance Single submitter
- KIF11 p.Glu856Lys Uncertain significance Single submitter
- KIF11 p.Glu966Asp Uncertain significance Single submitter
- KIF11 p.Glu970Ala Uncertain significance Single submitter
-
KIF11 p.Glu971Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Gly1008Arg Uncertain significance Single submitter
- KIF11 p.Gly1008Glu Uncertain significance Single submitter
-
KIF11 p.Gly1019Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Gly427Val Uncertain significance Single submitter
-
KIF11 p.Gly790Ala
Uncertain significance
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Gly905Ser Uncertain significance Single submitter
- KIF11 p.His1014Tyr Uncertain significance Single submitter
- KIF11 p.His205Tyr Uncertain significance Single submitter
- KIF11 p.His244Asp Uncertain significance Single submitter
-
KIF11 p.His38Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.His467Gln Uncertain significance Single submitter
- KIF11 p.His467Tyr Uncertain significance Single submitter
- KIF11 p.His493Asn Uncertain significance Single submitter
- KIF11 p.His656Arg Uncertain significance Single submitter
- KIF11 p.His687Arg Uncertain significance Single submitter
- KIF11 p.His718Tyr Uncertain significance Single submitter
- KIF11 p.His768Arg Uncertain significance Single submitter
-
KIF11 p.His768Gln
Uncertain significance
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Ile1054Met Uncertain significance Single submitter
- KIF11 p.Ile1054Thr Uncertain significance Single submitter
- KIF11 p.Ile136Phe Uncertain significance Single submitter
- KIF11 p.Ile195Met Uncertain significance Single submitter
- KIF11 p.Ile243Val Uncertain significance Single submitter
- KIF11 p.Ile288Thr Uncertain significance Single submitter
- KIF11 p.Ile332Val Uncertain significance Single submitter
- KIF11 p.Ile333Val Uncertain significance Single submitter
- KIF11 p.Ile400Val Uncertain significance Single submitter
-
KIF11 p.Ile40Val
Uncertain significance
Single submitter
KIF11-related disorder
- KIF11 p.Ile533Val Uncertain significance Single submitter
-
KIF11 p.Ile549Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Ile625Thr Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
-
KIF11 p.Ile163Val
Uncertain significance
Multiple submitters
Developmental disorder
- KIF11 p.Leu468Val Uncertain significance Multiple submitters
- KIF11 p.Lys260Arg Uncertain significance Multiple submitters
- KIF11 p.Lys60Met Uncertain significance Multiple submitters
-
KIF11 p.Lys77Glu
Uncertain significance
Multiple submitters
inherited retinal dystrophy
- KIF11 p.Pro642Ala Benign/Likely benign Multiple submitters
- KIF11 p.Ser821Pro Uncertain significance Multiple submitters
-
KIF11 p.Thr249Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KIF11 p.Thr630Pro Uncertain significance Multiple submitters
- KIF11 p.Val303Ile Uncertain significance Multiple submitters
- KIF11 p.Arg24Lys Uncertain significance Single submitter
-
KIF11 p.Arg327His
Conflicting
Single submitter
Inborn genetic diseases
- KIF11 p.Arg33Trp Uncertain significance Single submitter
- KIF11 p.Arg384His Uncertain significance Single submitter
-
KIF11 p.Asn527Ile
Likely pathogenic
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Asp130Asn Uncertain significance Single submitter
- KIF11 p.Asp279Asn Uncertain significance Single submitter
- KIF11 p.Asp44Glu Conflicting Single submitter
- KIF11 p.Asp80His Uncertain significance Single submitter
- KIF11 p.Gln415Leu Uncertain significance Single submitter
-
KIF11 p.Glu421Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Glu478Lys Uncertain significance Single submitter
-
KIF11 p.Gly55Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.His244Tyr Uncertain significance Single submitter
- KIF11 p.Ile143Thr Uncertain significance Single submitter
-
KIF11 p.Ile382Thr
Conflicting
Single submitter
CTCF-related neurodevelopmental disorder
- KIF11 p.Ile40Met Uncertain significance Single submitter
-
KIF11 p.Ile419Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
KIF11 p.Leu140Phe
Conflicting
Single submitter
Inborn genetic diseases
-
KIF11 p.Leu896Pro
Likely pathogenic
Single submitter
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- KIF11 p.Met184Ile Uncertain significance Single submitter
- KIF11 p.Met245Thr Uncertain significance Single submitter
- KIF11 p.Phe733Leu Uncertain significance Single submitter
- KIF11 p.Ser232Ala Uncertain significance Single submitter
- KIF11 p.Ser240Cys Uncertain significance Single submitter
-
KIF11 p.Ser340Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- KIF11 p.Ser612Pro Conflicting Single submitter
- KIF11 p.Thr242Ile Uncertain significance Single submitter
- KIF11 p.Thr300Ile Uncertain significance Single submitter
- KIF11 p.Thr54Ala Uncertain significance Single submitter
- KIF11 p.Thr565Pro Uncertain significance Single submitter
- KIF11 p.Val50Leu Likely benign Single submitter
All KIF11 variants
Pathogenic 117
- c.2548-1G>A Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.308+1G>A Multiple submitters Inborn genetic diseases
- c.77+1G>A Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.790-1G>T Multiple submitters Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)
- p.Arg53Ter Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Arg83Ter Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Asn899fs Multiple submitters Inborn genetic diseases
- p.Gln744Ter Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln755Ter Multiple submitters
- p.Gln928Ter Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Glu13fs Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gly397Ter Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.His768fs Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.His800_Ser801insTer Multiple submitters
- p.Leu347fs Multiple submitters KIF11-related disorder
- p.Lys146Ter Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Lys207fs Multiple submitters Inborn genetic diseases
- p.Thr148fs Multiple submitters
- p.Tyr211fs Multiple submitters
- p.Tyr934Ter Multiple submitters
- c.1129-2A>G Single submitter
- c.(1217+1_1218-1 Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1702+1G>A Single submitter
- c.2160+1G>T Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.2267+1G>A Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.2771-1G>C Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.387+1G>A Single submitter
- c.388-2A>T Single submitter
- c.699-7_705del Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ala353fs Single submitter
- p.Ala35fs Single submitter
- p.Ala373fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ala391fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ala496fs Single submitter
- p.Ala9fs Single submitter
- p.Arg384_Leu385insTer Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Arg387Ter Single submitter KIF11-related disorder
- p.Arg393fs Single submitter
- p.Arg784fs Single submitter
- p.Asn122fs Single submitter
- p.Asn434fs Single submitter
- p.Asn651fs Single submitter
- p.Asn684Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Asn763fs Single submitter
- p.Asn895fs Single submitter
- p.Asp920fs Single submitter
- p.Gln142Ter Single submitter
- p.Gln212Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln290Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln367fs Single submitter
- p.Gln602Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln770Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln788Ter Single submitter
- p.Gln817Ter Single submitter
- p.Gln832Ter Single submitter
- p.Gln853Ter Single submitter
- p.Gln883_Met884insTer Single submitter
- p.Gln883Ter Single submitter retinal disorder
- p.Gln894fs Single submitter
- p.Glu201fs Single submitter
- p.Glu364Ter Single submitter
- p.Glu470Ter Single submitter KIF11-related disorder
- p.Glu623Ter Single submitter
- p.Glu674fs Single submitter
- p.Glu795Ter Single submitter
- p.Glu809fs Single submitter
- p.Glu841fs Single submitter
- p.Glu92Ter Single submitter
- p.Glu980Ter Single submitter
- p.His308fs Single submitter
- p.His38fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.His563fs Single submitter
- p.Ile196fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ile811fs Single submitter KIF11-related disorder
- p.Leu160fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Leu548fs Single submitter
- p.Leu548Ter Single submitter
- p.Leu959fs Single submitter
- p.Leu959Ter Single submitter
- p.Lys315fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Lys564fs Single submitter
- p.Lys702fs Single submitter
- p.Lys930Ter Single submitter
- p.Met1fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Met1Val Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Phe102fs Single submitter
- p.Phe113fs Single submitter
- p.Phe658fs Single submitter
- p.Phe767fs Single submitter KIF11-related disorder
- p.Pro27fs Single submitter
- p.Pro922fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Pro974= Single submitter microcephaly
- p.Ser155fs Single submitter
- p.Ser348fs Single submitter
- p.Ser574fs Single submitter
- p.Ser576fs Single submitter
- p.Ser835_Ser836insTer Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ser858Ter Single submitter
- p.Ser931fs Single submitter
- p.Thr203fs Single submitter
- p.Thr590fs Single submitter
- p.Thr713fs Single submitter
- p.Thr926fs Single submitter
- p.Tyr311Ter Single submitter
- p.Val156fs Single submitter
- p.Val562fs Single submitter
- p.Val562Ter Single submitter
- p.Val620fs Single submitter
- p.Val850_Val851insTer Single submitter
- p.Val85fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Val978_Glu979insTer Single submitter retinitis pigmentosa
- c.2547+2T>C No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.790-1G>A No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln531fs No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln622Ter No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln781Ter No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Tyr231Ter No assertion criteria inherited retinal dystrophy
Pathogenic/Likely pathogenic 16
- c.2161-1G>A Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.388-1G>C Multiple submitters KIF11-related disorder
- c.574-2A>G Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Arg26Gly Multiple submitters
- p.Arg312Ter Multiple submitters Neurodevelopmental delay
- p.Arg47Ter Multiple submitters inherited retinal dystrophy
- p.Arg732fs Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Asn838fs Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln720Ter Multiple submitters
- p.Glu814fs Multiple submitters KIF11-related disorder
- p.Gly427fs Multiple submitters
- p.Lys771fs Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Met1Thr Multiple submitters
- p.Met726fs Multiple submitters KIF11-related disorder
- p.Ser812fs Multiple submitters KIF11-related disorder
- p.Trp127Ter No assertion criteria Syndromic retinitis pigmentosa
Likely pathogenic 76
- c.1305+1G>A Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1495-1G>C Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1495-7A>G Single submitter KIF11-related disorder
- c.1702+1del Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1703-1G>A Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1875+1G>C Single submitter KIF11-related disorder
- c.2160+1del Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.2161-2A>C Single submitter
- c.2267+4del Single submitter
- c.2267+5G>C Single submitter
- c.2547+1G>A Single submitter KIF11-related disorder
- c.2548-1G>T Single submitter
- c.2548-2A>T Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.2771-1G>A Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.574-1G>A Single submitter
- c.699-1G>C Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.789+1G>T Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Arg119fs Single submitter
- p.Arg234Cys Single submitter KIF11-related disorder
- p.Arg26Thr Single submitter KIF11-related disorder
- p.Arg732Ter Single submitter
- p.Arg825fs Single submitter KIF11-related disorder
- p.Asn527Ile Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Asn685fs Single submitter KIF11-related disorder
- p.Asn910fs Single submitter KIF11-related disorder
- p.Asp322fs Single submitter KIF11-related disorder
- p.Asp975fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln183Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln321Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln449Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln556Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gln701Ter Single submitter KIF11-related disorder
- p.Glu402Ter Single submitter KIF11-related disorder
- p.Glu505fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Glu637Ter Single submitter KIF11-related disorder
- p.Glu814Ter Single submitter KIF11-related disorder
- p.Glu897Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Gly868fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.His141Leu Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.His354fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.His687fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ile101fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ile213_Leu214insTer Single submitter KIF11-related disorder
- p.Ile375del Single submitter
- p.Ile423fs Single submitter KIF11-related disorder
- p.Ile714fs Single submitter KIF11-related disorder
- p.Ile743fs Single submitter KIF11-related disorder
- p.Leu293delinsLysLeuGluIleTer Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Leu30Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Leu385fs Single submitter
- p.Leu385Ter Single submitter KIF11-related disorder
- p.Leu412Ter Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Leu896Pro Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Leu948del Single submitter
- p.Lys257fs Single submitter neurodevelopmental disorder
- p.Lys48fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Lys60fs Single submitter KIF11-related disorder
- p.Lys673fs Single submitter KIF11-related disorder
- p.Lys799Ter Single submitter KIF11-related disorder
- p.Phe102Val Single submitter KIF11-related disorder
- p.Ser646fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ser992fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Thr126fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Thr222fs Single submitter KIF11-related disorder
- p.Thr242fs Single submitter KIF11-related disorder
- p.Tyr164fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Tyr378Ter Single submitter KIF11-related disorder
- p.Tyr66Ter Single submitter KIF11-related disorder
- p.Val158fs Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.2268-1G>A No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.308+2dup No assertion criteria inherited retinal dystrophy
- p.Asp177fs No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Glu820Ter No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Glu849Ter No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ile288fs No assertion criteria Retinal dysplasia
- p.Ile299Val No assertion criteria microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Conflicting classifications of pathogenicity 38
- c.1128+5C>T Single submitter
- c.1217+14_1217+283del Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1873_1875+1del Single submitter ⚠
- c.2922+4A>C Single submitter
- c.308+14T>A Single submitter
- c.573+4A>G Single submitter
- c.574-5G>T Single submitter Inborn genetic diseases
- p.Ala484Thr Single submitter Inborn genetic diseases ⚠
- p.Ala530Thr Single submitter Inborn genetic diseases ⚠
- p.Arg327His Single submitter Inborn genetic diseases ⚠
- p.Arg33Gln Single submitter ⚠
- p.Arg944Cys Single submitter Inborn genetic diseases
- p.Asp44Glu Single submitter ⚠
- p.Gln781= Single submitter
- p.Gln950Arg Single submitter ⚠
- p.Glu432del Single submitter KIF11-related disorder
- p.Glu479Gln Single submitter Inborn genetic diseases ⚠
- p.Glu561Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1026Val Single submitter Inborn genetic diseases ⚠
- p.Ile250Thr Single submitter hereditary ataxia ⚠
- p.Ile382Thr Single submitter CTCF-related neurodevelopmental disorder ⚠
- p.Ile400Met Single submitter Inborn genetic diseases ⚠
- p.Ile592Val Single submitter Inborn genetic diseases ⚠
- p.Ile879Val Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Ile886Val Single submitter ⚠
- p.Leu140Phe Single submitter Inborn genetic diseases ⚠
- p.Leu697Val Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Lys673Met Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Lys702Asn Single submitter ⚠
- p.Met545Thr Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Met961del Single submitter
- p.Ser1005Leu Single submitter Inborn genetic diseases ⚠
- p.Ser235Cys Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Ser591Cys Single submitter Inborn genetic diseases ⚠
- p.Ser612Pro Single submitter ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr463Ser Single submitter Inborn genetic diseases ⚠
- p.Thr65Ala Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
Benign 74
- c.1033-37A>G Multiple submitters
- c.1129-49T>C Multiple submitters
- c.1218-54A>G Multiple submitters
- c.1494+121A>C Multiple submitters
- c.1702+9A>T Multiple submitters
- c.1875+78T>G Multiple submitters
- c.2548-112C>T Multiple submitters
- c.2922+57C>T Multiple submitters
- c.2922+6T>C Multiple submitters
- c.3040-42G>A Multiple submitters
- c.309-18A>G Multiple submitters
- c.309-81G>T Multiple submitters
- c.387+39A>G Multiple submitters
- c.574-82A>T Multiple submitters
- c.698+249C>T Multiple submitters
- c.698+250G>C Multiple submitters
- c.699-91A>G Multiple submitters
- c.77+229T>C Multiple submitters
- c.77+69G>T Multiple submitters
- c.789+55T>C Multiple submitters
- c.-215A>G Multiple submitters
- c.*114G>A Multiple submitters
- p.His718Leu Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1033-166C>A Single submitter
- c.1128+35_1128+37del Single submitter
- c.1129-257A>G Single submitter
- c.1217+124TG[17] Single submitter
- c.1217+124TG[18] Single submitter
- c.1217+279C>A Single submitter
- c.1305+189G>A Single submitter
- c.1306-188G>A Single submitter
- c.1702+278C>T Single submitter
- c.1702+65_1702+69dup Single submitter
- c.1875+139_1875+142del Single submitter
- c.1875+229G>A Single submitter
- c.1875+233T>C Single submitter
- c.1876-131del Single submitter
- c.1876-131dup Single submitter
- c.1876-132_1876-131del Single submitter
- c.1876-259C>T Single submitter
- c.1876-327A>G Single submitter
- c.2001+14T>C Single submitter
- c.211-16dup Single submitter
- c.2268-296C>T Single submitter
- c.2547+326_2547+327del Single submitter
- c.2547+327del Single submitter
- c.2548-302A>G Single submitter
- c.2548-90del Single submitter
- c.2548-95_2548-90dup Single submitter
- c.2770+217T>C Single submitter
- c.308+125G>A Single submitter
- c.308+152C>T Single submitter
- c.309-52_309-51del Single submitter
- c.387+236A>G Single submitter
- c.388-121G>T Single submitter
- c.388-124T>C Single submitter
- c.388-189T>C Single submitter
- c.573+62AG[14] Single submitter
- c.573+62AG[15] Single submitter
- c.573+88_574-77del Single submitter
- c.574-81GT[14] Single submitter
- c.574-82_574-73del Single submitter
- c.574-84_574-75del Single submitter
- c.698+322G>T Single submitter
- c.699-244A>T Single submitter
- c.699-245G>T Single submitter
- c.77+9_77+11del Single submitter
- c.78-281A>G Single submitter
- c.78-329G>A Single submitter
- p.Glu145= Single submitter
- p.His467Arg Single submitter
- p.Pro88= Single submitter
- p.Ser323= Single submitter
- p.Thr349= Single submitter
Benign/Likely benign 34
- c.1129-9C>T Multiple submitters
- c.1218-18T>C Multiple submitters
- c.1495-5T>C Multiple submitters
- c.2770+16A>G Multiple submitters
- c.2771-6T>A Multiple submitters
- c.3040-15G>T Multiple submitters
- c.308+13G>A Multiple submitters
- c.77+5G>C Multiple submitters neutropenia
- c.*19A>G Multiple submitters
- p.Ala35= Multiple submitters
- p.Ala428= Multiple submitters
- p.Asn651Ser Multiple submitters Inborn genetic diseases
- p.Asn838His Multiple submitters Inborn genetic diseases
- p.Asp666Asn Multiple submitters Inborn genetic diseases
- p.Gln602= Multiple submitters
- p.Glu888= Multiple submitters
- p.Gly552= Multiple submitters
- p.His526Gln Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ile1006Val Multiple submitters
- p.Ile647= Multiple submitters
- p.Leu1042Phe Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Leu227= Multiple submitters
- p.Leu369= Multiple submitters
- p.Leu461= Multiple submitters
- p.Leu682Val Multiple submitters Inborn genetic diseases
- p.Leu722= Multiple submitters
- p.Leu837= Multiple submitters
- p.Met606Val Multiple submitters Inborn genetic diseases
- p.Pro642Ala Multiple submitters ⚠
- p.Pro974Leu Multiple submitters
- p.Pro990= Multiple submitters
- p.Thr925= Multiple submitters
- p.Thr972Ala Multiple submitters Inborn genetic diseases
- p.Val627Leu Multiple submitters Inborn genetic diseases
Likely benign 364
Showing the top 300 by review status; the full set is in the sitemap.
- c.1032+7C>T Multiple submitters
- c.1128+8_1128+9del Multiple submitters
- c.1217+107C>T Multiple submitters
- c.1305+147G>A Multiple submitters
- c.1305+7A>G Multiple submitters
- c.1306-17T>A Multiple submitters
- c.1494+10T>G Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1876-17T>C Multiple submitters
- c.1876-18G>C Multiple submitters
- c.2001+13A>G Multiple submitters
- c.2002-13T>C Multiple submitters
- c.210+59A>G Multiple submitters
- c.210+8A>G Multiple submitters
- c.211-14dup Multiple submitters
- c.211-16T>A Multiple submitters
- c.211-5G>A Multiple submitters
- c.211-6C>T Multiple submitters
- c.2160+14C>T Multiple submitters
- c.2160+15G>A Multiple submitters
- c.2268-4A>G Multiple submitters
- c.2770+12G>T Multiple submitters
- c.2771-8C>T Multiple submitters
- c.3040-15G>A Multiple submitters
- c.388-12T>C Multiple submitters
- c.573+8A>C Multiple submitters
- c.574-43G>T Multiple submitters
- c.78-14A>G Multiple submitters
- c.78-19T>C Multiple submitters
- p.Ala225= Multiple submitters
- p.Ala230= Multiple submitters
- p.Ala285= Multiple submitters
- p.Ala558= Multiple submitters
- p.Arg1032Lys Multiple submitters
- p.Arg297= Multiple submitters
- p.Arg825= Multiple submitters
- p.Asn569Ser Multiple submitters
- p.Asn805Ser Multiple submitters Inborn genetic diseases
- p.Asn807= Multiple submitters
- p.Asp448= Multiple submitters
- p.Asp710= Multiple submitters
- p.Asp889= Multiple submitters
- p.Cys854= Multiple submitters
- p.Gln955Arg Multiple submitters Inborn genetic diseases
- p.Gln993= Multiple submitters
- p.Glu215= Multiple submitters
- p.Glu430Ala Multiple submitters
- p.Gly1007= Multiple submitters
- p.Gly984= Multiple submitters
- p.His1018Arg Multiple submitters Inborn genetic diseases
- p.His244= Multiple submitters
- p.His526= Multiple submitters
- p.His599= Multiple submitters
- p.Ile258= Multiple submitters
- p.Ile319Met Multiple submitters Inborn genetic diseases
- p.Ile423Thr Multiple submitters Inborn genetic diseases
- p.Leu1050= Multiple submitters
- p.Leu182= Multiple submitters
- p.Leu374= Multiple submitters
- p.Leu513= Multiple submitters
- p.Leu541= Multiple submitters
- p.Leu891= Multiple submitters
- p.Leu962= Multiple submitters
- p.Lys1016= Multiple submitters
- p.Lys368= Multiple submitters
- p.Met606Thr Multiple submitters
- p.Met884Ile Multiple submitters Inborn genetic diseases
- p.Phe772Leu Multiple submitters Inborn genetic diseases
- p.Ser155= Multiple submitters
- p.Ser3= Multiple submitters
- p.Ser696Ala Multiple submitters
- p.Ser860= Multiple submitters
- p.Thr114= Multiple submitters
- p.Thr379= Multiple submitters
- p.Thr437Ala Multiple submitters Inborn genetic diseases
- p.Thr488= Multiple submitters
- p.Thr507= Multiple submitters
- p.Thr791Ile Multiple submitters
- p.Thr907Ser Multiple submitters Inborn genetic diseases
- p.Val41= Multiple submitters
- p.Val978= Multiple submitters
- c.1032+17G>C Single submitter
- c.1033-15del Single submitter
- c.1033-19C>A Single submitter
- c.1033-207C>G Single submitter
- c.1033-8C>T Single submitter
- c.1128+11del Single submitter
- c.1128+12T>A Single submitter
- c.1128+18T>G Single submitter
- c.1128+20G>C Single submitter
- c.1129-10T>C Single submitter
- c.1129-11C>A Single submitter
- c.1129-18A>G Single submitter
- c.1129-8T>C Single submitter
- c.1129-9C>G Single submitter
- c.1217+124TG[19] Single submitter
- c.1218-20_1218-10del Single submitter
- c.1305+17A>G Single submitter
- c.1305+19A>G Single submitter
- c.1306-3del Single submitter
- c.1306-7T>A Single submitter
- c.1494+10T>C Single submitter
- c.1494+12G>A Single submitter
- c.1494+38G>C Single submitter
- c.1494+8C>A Single submitter
- c.1494+9C>A Single submitter
- c.1495-11T>A Single submitter
- c.1495-12T>C Single submitter
- c.1495-15T>C Single submitter
- c.1702+14G>C Single submitter
- c.1702+8_1702+9insTAGA Single submitter
- c.1703-18T>C Single submitter
- c.1703-3T>C Single submitter
- c.1703-7G>C Single submitter
- c.1875+16A>C Single submitter
- c.1875+17_1875+19del Single submitter
- c.1876-132_1876-131dup Single submitter
- c.1876-14A>G Single submitter
- c.1876-152C>A Single submitter
- c.1876-4C>A Single submitter
- c.2002-17T>G Single submitter
- c.2002-4A>G Single submitter
- c.210+13G>T Single submitter
- c.210+14C>A Single submitter
- c.210+16A>G Single submitter
- c.210+18T>G Single submitter
- c.211-17_211-16dup Single submitter
- c.2160+15G>C Single submitter
- c.2161-8T>C Single submitter
- c.2161-8T>G Single submitter
- c.2267+14A>C Single submitter
- c.2267+18T>A Single submitter
- c.2267+19C>T Single submitter
- c.2267+20T>C Single submitter
- c.2267+8A>C Single submitter
- c.2268-12C>T Single submitter
- c.2268-17A>G Single submitter
- c.2268-293G>A Single submitter
- c.2268-297C>T Single submitter
- c.2547+249A>G Single submitter
- c.2547+25_2547+28del Single submitter
- c.2548-106_2548-104del Single submitter
- c.2548-13G>A Single submitter
- c.2548-20T>C Single submitter
- c.2548-8A>G Single submitter
- c.2548-90_2548-89insAAAAAAAAAAAAAAAA Single submitter
- c.2548-90_2548-89insAAAAAAAAAAAAAAAAA Single submitter
- c.2548-90_2548-89insAAAAAAAAAAAAAAAAAA Single submitter
- c.2770+15A>G Single submitter
- c.2770+18T>C Single submitter
- c.2770+18T>G Single submitter
- c.2770+20G>C Single submitter
- c.2770+7T>C Single submitter
- c.2771-13A>T Single submitter
- c.2771-15T>C Single submitter
- c.2771-16C>G Single submitter
- c.2771-16C>T Single submitter
- c.2771-221A>C Single submitter
- c.2771-7G>A Single submitter
- c.2922+16_2922+18del Single submitter
- c.2922+18T>C Single submitter
- c.2922+20T>C Single submitter
- c.2922+8T>G Single submitter
- c.2923-7C>T Single submitter
- c.3039+12C>G Single submitter
- c.3039+8A>C Single submitter
- c.3039+8A>G Single submitter
- c.3039+9dup Single submitter
- c.3040-16C>G Single submitter
- c.3040-16C>T Single submitter
- c.308+12G>T Single submitter
- c.309-11A>C Single submitter
- c.309-13T>G Single submitter
- c.387+12T>G Single submitter
- c.387+259G>T Single submitter
- c.388-11_388-9del Single submitter
- c.388-11T>C Single submitter
- c.388-120T>G Single submitter
- c.388-122T>A Single submitter
- c.388-14T>C Single submitter
- c.388-15T>C Single submitter
- c.388-15T>G Single submitter
- c.388-180C>T Single submitter
- c.388-19G>C Single submitter
- c.388-8_388-5del Single submitter
- c.573+20T>A Single submitter
- c.573+62AG[13] Single submitter
- c.573+62AG[16] Single submitter
- c.573+84_574-79del Single submitter
- c.573+88_574-75del Single submitter
- c.573+88_574-79del Single submitter
- c.573+90_574-75del Single submitter
- c.573+90_574-77del Single submitter
- c.574-5G>A Single submitter
- c.574-81GT[15] Single submitter
- c.574-81GT[21] Single submitter
- c.574-81GT[22] Single submitter
- c.574-82_574-67del Single submitter
- c.574-82_574-79dup Single submitter
- c.574-83_574-82insTG Single submitter
- c.574-84_574-73del Single submitter
- c.574-86_574-73del Single submitter
- c.574-86_574-79del Single submitter
- c.574-88_574-73del Single submitter
- c.698+13T>C Single submitter
- c.699-11T>A Single submitter
- c.699-12A>T Single submitter
- c.699-289A>G Single submitter
- c.699-4C>T Single submitter
- c.77+11G>A Single submitter
- c.77+18A>G Single submitter
- c.77+20G>T Single submitter
- c.77+7A>C Single submitter
- c.78-4A>G Single submitter
- c.789+12C>T Single submitter
- c.790-16A>C Single submitter
- c.790-36T>A Single submitter
- c.790-36T>C Single submitter
- p.Ala2= Single submitter
- p.Ala218= Single submitter
- p.Ala301= Single submitter
- p.Ala356= Single submitter
- p.Ala37= Single submitter
- p.Ala522= Single submitter
- p.Ala58= Single submitter
- p.Ala74Thr Single submitter
- p.Arg1032= Single submitter
- p.Arg189= Single submitter
- p.Arg189His Single submitter
- p.Arg26= Single submitter
- p.Arg281= Single submitter
- p.Arg283= Single submitter
- p.Arg869Cys Single submitter
- p.Asn271= Single submitter
- p.Asn527= Single submitter
- p.Asn539= Single submitter
- p.Asn569= Single submitter
- p.Asn685Ser Single submitter
- p.Asn706= Single submitter
- p.Asn727= Single submitter
- p.Asn753= Single submitter
- p.Asn805= Single submitter
- p.Asn846= Single submitter
- p.Asn967Lys Single submitter
- p.Asp861= Single submitter
- p.Asp861Gly Single submitter
- p.Asp887Gly Single submitter
- p.Cys854Phe Single submitter
- p.Gln367= Single submitter
- p.Gln556= Single submitter
- p.Gln611= Single submitter
- p.Gln653= Single submitter
- p.Gln690= Single submitter
- p.Gln788= Single submitter
- p.Gln928= Single submitter
- p.Gln955= Single submitter
- p.Glu1031= Single submitter
- p.Glu124= Single submitter
- p.Glu14Ala Single submitter
- p.Glu200= Single submitter
- p.Glu377= Single submitter
- p.Glu402Gln Single submitter
- p.Glu416= Single submitter
- p.Glu547= Single submitter
- p.Glu594Gln Single submitter
- p.Glu623= Single submitter
- p.Glu674= Single submitter
- p.Glu795Lys Single submitter
- p.Glu970= Single submitter
- p.Gly1000Ser Single submitter
- p.Gly410= Single submitter
- p.Gly73= Single submitter
- p.Gly806= Single submitter
- p.Gly868= Single submitter
- p.His1014= Single submitter
- p.His1018= Single submitter
- p.His1041= Single submitter
- p.His1041Arg Single submitter
- p.His38= Single submitter
- p.His718= Single submitter
- p.Ile163= Single submitter
- p.Ile196Leu Single submitter
- p.Ile336Val Single submitter
- p.Leu1042= Single submitter
- p.Leu160= Single submitter
- p.Leu161= Single submitter
- p.Leu293= Single submitter
- p.Leu350= Single submitter
- p.Leu360= Single submitter
- p.Leu422= Single submitter
- p.Leu447= Single submitter
- p.Leu566= Single submitter
- p.Leu571= Single submitter
- p.Leu578= Single submitter
- p.Leu624= Single submitter
- p.Leu632Val Single submitter
- p.Leu633= Single submitter
- p.Leu682= Single submitter
- p.Leu736= Single submitter
- p.Leu848= Single submitter
- p.Leu896= Single submitter
Uncertain significance 364
Showing the top 300 by review status; the full set is in the sitemap.
- c.1128+5C>G Multiple submitters
- c.1495-3T>C Multiple submitters Inborn genetic diseases
- c.2160+5G>A Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.2268-6C>G Multiple submitters
- c.308+5G>A Multiple submitters
- p.Arg1025Gly Multiple submitters ⚠
- p.Arg327Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg435= Multiple submitters
- p.Arg944His Multiple submitters Inborn genetic diseases ⚠
- p.Asn445Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asn595Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asp524Asn Multiple submitters ⚠
- p.Asp760Val Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Cys964Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln985del Multiple submitters
- p.Glu1036Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu864Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu945Lys Multiple submitters ⚠
- p.His687Tyr Multiple submitters ⚠
- p.His946Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile136Val Multiple submitters
- p.Ile143Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile163Val Multiple submitters Developmental disorder ⚠
- p.Ile359Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile681Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile892Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1056Ile Multiple submitters Inborn genetic diseases ⚠
- p.Leu468Val Multiple submitters ⚠
- p.Leu648Pro Multiple submitters
- p.Lys260Arg Multiple submitters ⚠
- p.Lys520Arg Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Lys60Met Multiple submitters ⚠
- p.Lys757Glu Multiple submitters ⚠
- p.Lys77Glu Multiple submitters inherited retinal dystrophy ⚠
- p.Lys969Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met245Val Multiple submitters microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Met545Val Multiple submitters ⚠
- p.Met559Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser487Ile Multiple submitters ⚠
- p.Ser821Pro Multiple submitters ⚠
- p.Thr249Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr306Ile Multiple submitters
- p.Thr630Pro Multiple submitters ⚠
- p.Thr717Asn Multiple submitters Inborn genetic diseases ⚠
- p.Val303Ile Multiple submitters ⚠
- p.Val834Ile Multiple submitters ⚠
- c.1011_1032+5dup Single submitter
- c.1032+5G>A Single submitter
- c.1033-3C>T Single submitter
- c.1217+13_1217+14insACACCCTGCTAATTTTTGCATTTTTTTGTAGAGACAGGGTTTCACCATGCTGCCTAGGCTTCTATTTTG Single submitter
- c.1217+5G>T Single submitter intellectual disability
- c.1218-11C>G Single submitter
- c.1218-3T>G Single submitter
- c.1305+3A>G Single submitter
- c.1494+8C>T Single submitter
- c.1875+4A>G Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.1875+6T>G Single submitter
- c.2001+11C>G Single submitter
- c.2002-3A>G Single submitter Inborn genetic diseases
- c.210+4A>G Single submitter
- c.210+6A>G Single submitter
- c.211-9T>C Single submitter
- c.2160+4T>C Single submitter
- c.2548-3C>T Single submitter
- c.2770+5T>C Single submitter
- c.2922+4A>T Single submitter
- c.2922+6_2922+7delinsCG Single submitter
- c.2923-3T>C Single submitter
- c.3039+3A>T Single submitter
- c.308+6T>C Single submitter
- c.574-3C>A Single submitter
- c.574-3C>T Single submitter
- c.574-6G>A Single submitter
- c.698+4A>G Single submitter
- c.699-21_699-20delinsAC Single submitter
- c.78-3T>C Single submitter
- c.789+5G>A Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- c.*13T>C Single submitter
- p.Ala103Val Single submitter ⚠
- p.Ala133= Single submitter
- p.Ala133Thr Single submitter ⚠
- p.Ala224Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala339Val Single submitter ⚠
- p.Ala356Pro Single submitter ⚠
- p.Ala373Thr Single submitter ⚠
- p.Ala37Gly Single submitter Inborn genetic diseases ⚠
- p.Ala391Val Single submitter ⚠
- p.Ala392Ser Single submitter ⚠
- p.Ala484Val Single submitter ⚠
- p.Ala496Val Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Ala558Thr Single submitter ⚠
- p.Ala577Thr Single submitter ⚠
- p.Ala615Val Single submitter ⚠
- p.Ala857Thr Single submitter ⚠
- p.Ala981Val Single submitter ⚠
- p.Ala9Gly Single submitter ⚠
- p.Arg1051Gly Single submitter ⚠
- p.Arg1051Leu Single submitter Inborn genetic diseases ⚠
- p.Arg1051Ter Single submitter
- p.Arg138Cys Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg24Lys Single submitter ⚠
- p.Arg26Ile Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Arg384Cys Single submitter ⚠
- p.Arg384His Single submitter ⚠
- p.Arg435Lys Single submitter ⚠
- p.Arg435Ser Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Arg869His Single submitter ⚠
- p.Arg953Gly Single submitter ⚠
- p.Asn1028Lys Single submitter Inborn genetic diseases ⚠
- p.Asn206Ser Single submitter ⚠
- p.Asn342Ser Single submitter ⚠
- p.Asn434Asp Single submitter ⚠
- p.Asn456Ser Single submitter ⚠
- p.Asn537Lys Single submitter KIF11-related disorder ⚠
- p.Asn626His Single submitter Inborn genetic diseases ⚠
- p.Asn626Ser Single submitter Usher syndrome ⚠
- p.Asn706Ser Single submitter ⚠
- p.Asn727Asp Single submitter ⚠
- p.Asn727His Single submitter ⚠
- p.Asn727Lys Single submitter ⚠
- p.Asn753Ser Single submitter ⚠
- p.Asn753Tyr Single submitter ⚠
- p.Asn846Ser Single submitter ⚠
- p.Asn878Asp Single submitter ⚠
- p.Asn878Ile Single submitter ⚠
- p.Asn878Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1002fs Single submitter
- p.Asp130Asn Single submitter ⚠
- p.Asp149His Single submitter ⚠
- p.Asp279Asn Single submitter ⚠
- p.Asp388Ala Single submitter Inborn genetic diseases ⚠
- p.Asp448Ala Single submitter ⚠
- p.Asp448His Single submitter ⚠
- p.Asp44Gly Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Asp494Asn Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Asp494His Single submitter ⚠
- p.Asp676Ala Single submitter Inborn genetic diseases ⚠
- p.Asp69Ala Single submitter ⚠
- p.Asp69Asn Single submitter long QT syndrome ⚠
- p.Asp775Ala Single submitter ⚠
- p.Asp777Glu Single submitter Inborn genetic diseases ⚠
- p.Asp80His Single submitter ⚠
- p.Asp867Asn Single submitter ⚠
- p.Asp882Asn Single submitter ⚠
- p.Asp889Val Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Asp916Gly Single submitter ⚠
- p.Cys450Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys723Tyr Single submitter ⚠
- p.Cys773Phe Single submitter ⚠
- p.Cys855Ser Single submitter ⚠
- p.Gln1053Arg Single submitter ⚠
- p.Gln415Leu Single submitter ⚠
- p.Gln418Arg Single submitter ⚠
- p.Gln449Arg Single submitter ⚠
- p.Gln459Arg Single submitter ⚠
- p.Gln4His Single submitter ⚠
- p.Gln531Arg Single submitter ⚠
- p.Gln531Leu Single submitter ⚠
- p.Gln690Arg Single submitter ⚠
- p.Gln751Arg Single submitter ⚠
- p.Gln756Lys Single submitter ⚠
- p.Gln781Arg Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Gln781Glu Single submitter Inborn genetic diseases ⚠
- p.Gln842Arg Single submitter ⚠
- p.Gln842Lys Single submitter ⚠
- p.Glu1023fs Single submitter
- p.Glu128Lys Single submitter
- p.Glu145Asp Single submitter
- p.Glu180Gly Single submitter Inborn genetic diseases ⚠
- p.Glu200Gln Single submitter
- p.Glu215Gly Single submitter ⚠
- p.Glu383Gln Single submitter
- p.Glu383Lys Single submitter ⚠
- p.Glu416_Ile419del Single submitter
- p.Glu417del Single submitter
- p.Glu417Gln Single submitter ⚠
- p.Glu421Ala Single submitter Inborn genetic diseases ⚠
- p.Glu430Gln Single submitter KIF11-related disorder ⚠
- p.Glu478Lys Single submitter ⚠
- p.Glu669Asp Single submitter ⚠
- p.Glu674Asp Single submitter ⚠
- p.Glu738Lys Single submitter ⚠
- p.Glu849Gln Single submitter ⚠
- p.Glu856Lys Single submitter ⚠
- p.Glu966Asp Single submitter ⚠
- p.Glu970Ala Single submitter ⚠
- p.Glu971Asp Single submitter Inborn genetic diseases ⚠
- p.Glu971del Single submitter
- p.Gly1008Arg Single submitter ⚠
- p.Gly1008Glu Single submitter ⚠
- p.Gly1019Glu Single submitter Inborn genetic diseases ⚠
- p.Gly427Val Single submitter ⚠
- p.Gly55Ala Single submitter Inborn genetic diseases ⚠
- p.Gly790Ala Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Gly905Ser Single submitter ⚠
- p.His1014Tyr Single submitter ⚠
- p.His205Tyr Single submitter ⚠
- p.His244Asp Single submitter ⚠
- p.His244Tyr Single submitter ⚠
- p.His38Tyr Single submitter Inborn genetic diseases ⚠
- p.His467Gln Single submitter ⚠
- p.His467Tyr Single submitter ⚠
- p.His493Asn Single submitter ⚠
- p.His656Arg Single submitter ⚠
- p.His687Arg Single submitter ⚠
- p.His718Tyr Single submitter ⚠
- p.His768Arg Single submitter ⚠
- p.His768Gln Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Ile1054Met Single submitter ⚠
- p.Ile1054Thr Single submitter ⚠
- p.Ile136Phe Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Ile195Met Single submitter ⚠
- p.Ile19Val Single submitter
- p.Ile243Val Single submitter ⚠
- p.Ile288Thr Single submitter ⚠
- p.Ile332Val Single submitter ⚠
- p.Ile333Val Single submitter ⚠
- p.Ile400Val Single submitter ⚠
- p.Ile40Met Single submitter ⚠
- p.Ile40Val Single submitter KIF11-related disorder ⚠
- p.Ile419Asn Single submitter Inborn genetic diseases ⚠
- p.Ile533Val Single submitter ⚠
- p.Ile549Thr Single submitter Inborn genetic diseases ⚠
- p.Ile625Thr Single submitter ⚠
- p.Ile639Phe Single submitter ⚠
- p.Ile650Thr Single submitter ⚠
- p.Ile657Val Single submitter ⚠
- p.Ile694Val Single submitter ⚠
- p.Ile714Thr Single submitter ⚠
- p.Ile754Val Single submitter ⚠
- p.Ile79Met Single submitter ⚠
- p.Ile79Val Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Ile886Thr Single submitter ⚠
- p.Ile89Leu Single submitter ⚠
- p.Ile89Phe Single submitter ⚠
- p.Ile89Val Single submitter Inborn genetic diseases ⚠
- p.Ile902Val Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Ile921Met Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Leu1048Ser Single submitter ⚠
- p.Leu1048Ter Single submitter
- p.Leu341Val Single submitter ⚠
- p.Leu360Met Single submitter ⚠
- p.Leu412Val Single submitter ⚠
- p.Leu571Pro Single submitter ⚠
- p.Leu608Pro Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Leu632Ile Single submitter ⚠
- p.Leu633Arg Single submitter ⚠
- p.Leu633del Single submitter
- p.Leu958Val Single submitter ⚠
- p.Lys1045Asn Single submitter ⚠
- p.Lys191Arg Single submitter ⚠
- p.Lys220Glu Single submitter ⚠
- p.Lys357Asn Single submitter Inborn genetic diseases ⚠
- p.Lys386Arg Single submitter ⚠
- p.Lys444Ile Single submitter
- p.Lys508Glu Single submitter ⚠
- p.Lys521Met Single submitter ⚠
- p.Lys564Glu Single submitter ⚠
- p.Lys60Gln Single submitter ⚠
- p.Lys649Glu Single submitter ⚠
- p.Lys655Gln Single submitter Inborn genetic diseases ⚠
- p.Lys77Arg Single submitter ⚠
- p.Lys799Glu Single submitter ⚠
- p.Lys903Arg Single submitter ⚠
- p.Lys903Asn Single submitter ⚠
- p.Lys969del Single submitter
- p.Met184Ile Single submitter ⚠
- p.Met245Thr Single submitter ⚠
- p.Met559Thr Single submitter ⚠
- p.Met70Thr Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Met726Leu Single submitter ⚠
- p.Met726Val Single submitter ⚠
- p.Met765Val Single submitter ⚠
- p.Met884Leu Single submitter ⚠
- p.Met961Thr Single submitter ⚠
- p.Phe113Tyr Single submitter ⚠
- p.Phe733Leu Single submitter ⚠
- p.Phe767Val Single submitter ⚠
- p.Pro307Ser Single submitter ⚠
- p.Pro338Ala Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Pro746Arg Single submitter ⚠
- p.Pro922Leu Single submitter
- p.Pro935Leu Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
- p.Pro974Ser Single submitter Inborn genetic diseases ⚠
- p.Pro974Thr Single submitter ⚠
- p.Ser232Ala Single submitter ⚠
- p.Ser240Cys Single submitter ⚠
- p.Ser340Phe Single submitter Inborn genetic diseases ⚠
- p.Ser487Asn Single submitter ⚠
- p.Ser51Asn Single submitter ⚠
- p.Ser51Gly Single submitter microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability ⚠
- p.Ser601Cys Single submitter ⚠
- p.Ser646Tyr Single submitter ⚠
- p.Ser680Asn Single submitter ⚠