VAV1 — 624 ClinVar variants
All ClinVar germline VAV1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 219 flagged for review →
5 Conflicting · 23 Benign · 5 Benign/Likely benign · 323 Likely benign · 268 Uncertain significance
Full VAV1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 219
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 155
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 155
- VAV1 p.Ala168Val Uncertain significance Multiple submitters
- VAV1 p.Arg15Gln Uncertain significance Multiple submitters
-
VAV1 p.Arg195His
Uncertain significance
Multiple submitters
VAV1-related disorder
- VAV1 p.Arg282His Uncertain significance Multiple submitters
- VAV1 p.Arg296His Uncertain significance Multiple submitters
- VAV1 p.Arg545Leu Uncertain significance Multiple submitters
- VAV1 p.Arg582Cys Uncertain significance Multiple submitters
- VAV1 p.Arg618Trp Uncertain significance Multiple submitters
- VAV1 p.Arg736Gln Uncertain significance Multiple submitters
- VAV1 p.Arg828Gln Uncertain significance Multiple submitters
- VAV1 p.Asn645His Uncertain significance Multiple submitters
- VAV1 p.Asp158Asn Uncertain significance Multiple submitters
- VAV1 p.Cys196Tyr Uncertain significance Multiple submitters
- VAV1 p.Gln217Arg Uncertain significance Multiple submitters
- VAV1 p.Gln217Lys Uncertain significance Multiple submitters
- VAV1 p.Gln480His Uncertain significance Multiple submitters
- VAV1 p.Gln601His Uncertain significance Multiple submitters
- VAV1 p.Gly568Arg Uncertain significance Multiple submitters
- VAV1 p.His581Arg Uncertain significance Multiple submitters
- VAV1 p.Ile173Val Uncertain significance Multiple submitters
- VAV1 p.Ile613Asn Uncertain significance Multiple submitters
- VAV1 p.Ile684Val Uncertain significance Multiple submitters
- VAV1 p.Lys804Thr Uncertain significance Multiple submitters
- VAV1 p.Pro609Leu Uncertain significance Multiple submitters
- VAV1 p.Pro610Ala Uncertain significance Multiple submitters
- VAV1 p.Pro662Thr Uncertain significance Multiple submitters
- VAV1 p.Thr512Ala Uncertain significance Multiple submitters
- VAV1 p.Thr628Met Uncertain significance Multiple submitters
- VAV1 p.Tyr192Ser Uncertain significance Multiple submitters
- VAV1 p.Val713Ile Uncertain significance Multiple submitters
- VAV1 p.Ala121Ser Uncertain significance Single submitter
- VAV1 p.Ala263Thr Uncertain significance Single submitter
- VAV1 p.Ala298Thr Uncertain significance Single submitter
- VAV1 p.Ala299Ser Uncertain significance Single submitter
- VAV1 p.Ala350Val Uncertain significance Single submitter
- VAV1 p.Ala513Thr Uncertain significance Single submitter
- VAV1 p.Ala673Ser Uncertain significance Single submitter
- VAV1 p.Ala673Thr Uncertain significance Single submitter
- VAV1 p.Ala702Glu Uncertain significance Single submitter
- VAV1 p.Ala777Glu Uncertain significance Single submitter
- VAV1 p.Arg200Gln Uncertain significance Single submitter
- VAV1 p.Arg200Trp Uncertain significance Single submitter
- VAV1 p.Arg245Leu Uncertain significance Single submitter
- VAV1 p.Arg301Gln Uncertain significance Single submitter
- VAV1 p.Arg364Lys Uncertain significance Single submitter
- VAV1 p.Arg548Gln Uncertain significance Single submitter
- VAV1 p.Arg566Gln Uncertain significance Single submitter
- VAV1 p.Arg582His Uncertain significance Single submitter
- VAV1 p.Arg589Ser Uncertain significance Single submitter
- VAV1 p.Arg5His Uncertain significance Single submitter
- VAV1 p.Arg618Gln Uncertain significance Single submitter
- VAV1 p.Arg696Gln Uncertain significance Single submitter
- VAV1 p.Arg736Trp Uncertain significance Single submitter
- VAV1 p.Arg822Gln Uncertain significance Single submitter
- VAV1 p.Arg90Gln Uncertain significance Single submitter
- VAV1 p.Asn265Ser Uncertain significance Single submitter
- VAV1 p.Asn464Lys Uncertain significance Single submitter
- VAV1 p.Asn687Ser Uncertain significance Single submitter
- VAV1 p.Asp151Asn Uncertain significance Single submitter
- VAV1 p.Asp171Gly Uncertain significance Single submitter
- VAV1 p.Asp295Glu Uncertain significance Single submitter
- VAV1 p.Asp428Tyr Uncertain significance Single submitter
- VAV1 p.Asp442Glu Uncertain significance Single submitter
- VAV1 p.Asp461His Uncertain significance Single submitter
- VAV1 p.Asp476Val Uncertain significance Single submitter
- VAV1 p.Asp586Asn Uncertain significance Single submitter
- VAV1 p.Asp623Gly Uncertain significance Single submitter
- VAV1 p.Asp690Asn Uncertain significance Single submitter
- VAV1 p.Cys652Tyr Uncertain significance Single submitter
- VAV1 p.Gln122Arg Uncertain significance Single submitter
- VAV1 p.Gln477His Uncertain significance Single submitter
- VAV1 p.Gln817Glu Uncertain significance Single submitter
- VAV1 p.Glu132Lys Uncertain significance Single submitter
- VAV1 p.Glu132Val Uncertain significance Single submitter
- VAV1 p.Glu134Gln Uncertain significance Single submitter
- VAV1 p.Glu139Lys Uncertain significance Single submitter
- VAV1 p.Glu181Val Uncertain significance Single submitter
- VAV1 p.Glu201Lys Uncertain significance Single submitter
- VAV1 p.Glu591Lys Uncertain significance Single submitter
- VAV1 p.Glu631Val Uncertain significance Single submitter
- VAV1 p.Glu682Asp Uncertain significance Single submitter
- VAV1 p.Glu740Asp Uncertain significance Single submitter
- VAV1 p.Glu824Lys Uncertain significance Single submitter
- VAV1 p.Gly259Ser Uncertain significance Single submitter
- VAV1 p.Gly460Val Uncertain significance Single submitter
- VAV1 p.Gly515Glu Uncertain significance Single submitter
- VAV1 p.Gly543Ser Uncertain significance Single submitter
- VAV1 p.Gly573Val Uncertain significance Single submitter
- VAV1 p.Gly691Arg Uncertain significance Single submitter
- VAV1 p.Gly87Ser Uncertain significance Single submitter
- VAV1 p.His450Tyr Uncertain significance Single submitter
- VAV1 p.His469Tyr Uncertain significance Single submitter
- VAV1 p.His9Arg Uncertain significance Single submitter
- VAV1 p.Ile235Asn Uncertain significance Single submitter
- VAV1 p.Ile235Phe Uncertain significance Single submitter
- VAV1 p.Ile238Leu Uncertain significance Single submitter
- VAV1 p.Ile411Val Uncertain significance Single submitter
- VAV1 p.Ile624Val Uncertain significance Single submitter
- VAV1 p.Ile684Thr Uncertain significance Single submitter
- VAV1 p.Leu338Phe Uncertain significance Single submitter
- VAV1 p.Leu339Ile Uncertain significance Single submitter
- VAV1 p.Leu340Pro Uncertain significance Single submitter
- VAV1 p.Leu37Phe Uncertain significance Single submitter
- VAV1 p.Leu670Phe Uncertain significance Single submitter
- VAV1 p.Leu761Val Uncertain significance Single submitter
- VAV1 p.Lys307Arg Uncertain significance Single submitter
- VAV1 p.Lys466Gln Uncertain significance Single submitter
- VAV1 p.Met127Ile Uncertain significance Single submitter
- VAV1 p.Met185Ile Uncertain significance Single submitter
- VAV1 p.Met185Leu Uncertain significance Single submitter
- VAV1 p.Met351Leu Uncertain significance Single submitter
- VAV1 p.Met363Thr Uncertain significance Single submitter
- VAV1 p.Met470Val Uncertain significance Single submitter
- VAV1 p.Phe320Leu Uncertain significance Single submitter
- VAV1 p.Phe523Ser Uncertain significance Single submitter
- VAV1 p.Phe693Leu Uncertain significance Single submitter
- VAV1 p.Pro130Arg Uncertain significance Single submitter
- VAV1 p.Pro186Leu Uncertain significance Single submitter
- VAV1 p.Pro186Thr Uncertain significance Single submitter
- VAV1 p.Pro18Leu Uncertain significance Single submitter
- VAV1 p.Pro261Arg Uncertain significance Single submitter
- VAV1 p.Pro608Thr Uncertain significance Single submitter
- VAV1 p.Pro610Ser Uncertain significance Single submitter
- VAV1 p.Pro615Leu Uncertain significance Single submitter
- VAV1 p.Pro621Leu Uncertain significance Single submitter
- VAV1 p.Pro675Leu Uncertain significance Single submitter
- VAV1 p.Pro768Thr Uncertain significance Single submitter
- VAV1 p.Ser683Gly Uncertain significance Single submitter
- VAV1 p.Ser780Asn Uncertain significance Single submitter
- VAV1 p.Ser802Leu Uncertain significance Single submitter
- VAV1 p.Thr111Ile Uncertain significance Single submitter
- VAV1 p.Thr412Ile Uncertain significance Single submitter
- VAV1 p.Thr488Lys Uncertain significance Single submitter
- VAV1 p.Thr628Arg Uncertain significance Single submitter
- VAV1 p.Thr644Ala Uncertain significance Single submitter
- VAV1 p.Thr644Ile Uncertain significance Single submitter
- VAV1 p.Thr739Lys Uncertain significance Single submitter
- VAV1 p.Thr760Ile Uncertain significance Single submitter
- VAV1 p.Trp831Cys Uncertain significance Single submitter
- VAV1 p.Tyr110His Uncertain significance Single submitter
- VAV1 p.Tyr209His Uncertain significance Single submitter
- VAV1 p.Tyr507His Uncertain significance Single submitter
- VAV1 p.Tyr672Cys Uncertain significance Single submitter
- VAV1 p.Tyr841Phe Uncertain significance Single submitter
- VAV1 p.Val183Met Uncertain significance Single submitter
- VAV1 p.Val23Met Uncertain significance Single submitter
- VAV1 p.Val269Ile Uncertain significance Single submitter
- VAV1 p.Val328Met Uncertain significance Single submitter
- VAV1 p.Val333Ile Uncertain significance Single submitter
- VAV1 p.Val454Ile Uncertain significance Single submitter
Predictors split 61
The independent predictors disagree with each other — read with care.
- VAV1 p.Ala362Thr Uncertain significance Multiple submitters
- VAV1 p.Arg179Ser Uncertain significance Multiple submitters
- VAV1 p.Arg545His Uncertain significance Multiple submitters
- VAV1 p.Arg728Trp Uncertain significance Multiple submitters
- VAV1 p.Glu769Ala Uncertain significance Multiple submitters
- VAV1 p.Ile240Thr Uncertain significance Multiple submitters
- VAV1 p.Ala28Val Uncertain significance Single submitter
- VAV1 p.Ala315Val Uncertain significance Single submitter
- VAV1 p.Ala513Gly Uncertain significance Single submitter
- VAV1 p.Arg226Trp Uncertain significance Single submitter
- VAV1 p.Arg282Cys Uncertain significance Single submitter
- VAV1 p.Arg436Leu Uncertain significance Single submitter
- VAV1 p.Arg545Cys Uncertain significance Single submitter
- VAV1 p.Arg548Trp Uncertain significance Single submitter
- VAV1 p.Arg550Trp Uncertain significance Single submitter
- VAV1 p.Arg63Cys Uncertain significance Single submitter
- VAV1 p.Arg63His Uncertain significance Single submitter
- VAV1 p.Arg688Cys Uncertain significance Single submitter
- VAV1 p.Arg790His Uncertain significance Single submitter
- VAV1 p.Arg90Trp Uncertain significance Single submitter
- VAV1 p.Asn514Lys Uncertain significance Single submitter
- VAV1 p.Asn653Lys Uncertain significance Single submitter
- VAV1 p.Asn813Lys Uncertain significance Single submitter
- VAV1 p.Asp101Asn Uncertain significance Single submitter
- VAV1 p.Asp147Asn Uncertain significance Single submitter
- VAV1 p.Asp150Asn Uncertain significance Single submitter
- VAV1 p.Asp171Ala Uncertain significance Single submitter
- VAV1 p.Asp807Glu Uncertain significance Single submitter
- VAV1 p.Cys753Phe Uncertain significance Single submitter
- VAV1 p.Gln453Leu Uncertain significance Single submitter
- VAV1 p.Glu241Lys Uncertain significance Single submitter
- VAV1 p.Glu275Lys Uncertain significance Single submitter
- VAV1 p.Glu2Gln Uncertain significance Single submitter
- VAV1 p.Glu490Gln Uncertain significance Single submitter
- VAV1 p.Glu626Gln Uncertain significance Single submitter
- VAV1 p.Glu646Gly Uncertain significance Single submitter
- VAV1 p.Glu824Asp Uncertain significance Single submitter
- VAV1 p.Glu95Lys Uncertain significance Single submitter
- VAV1 p.Gly318Arg Uncertain significance Single submitter
- VAV1 p.Gly515Arg Uncertain significance Single submitter
- VAV1 p.Gly565Ser Uncertain significance Single submitter
- VAV1 p.Gly593Asp Uncertain significance Single submitter
- VAV1 p.Gly737Glu Uncertain significance Single submitter
- VAV1 p.Gly819Ser Uncertain significance Single submitter
- VAV1 p.Ile718Val Uncertain significance Single submitter
- VAV1 p.Leu278Val Uncertain significance Single submitter
- VAV1 p.Leu325Met Uncertain significance Single submitter
- VAV1 p.Leu619Phe Uncertain significance Single submitter
- VAV1 p.Phe471Leu Uncertain significance Single submitter
- VAV1 p.Phe650Ile Uncertain significance Single submitter
- VAV1 p.Phe705Leu Uncertain significance Single submitter
- VAV1 p.Phe784Leu Uncertain significance Single submitter
- VAV1 p.Pro119Leu Uncertain significance Single submitter
- VAV1 p.Pro223Ala Uncertain significance Single submitter
- VAV1 p.Pro609Thr Uncertain significance Single submitter
- VAV1 p.Ser285Thr Uncertain significance Single submitter
- VAV1 p.Thr118Ile Uncertain significance Single submitter
- VAV1 p.Thr152Lys Uncertain significance Single submitter
- VAV1 p.Thr527Ala Uncertain significance Single submitter
- VAV1 p.Tyr273His Uncertain significance Single submitter
- VAV1 p.Val246Phe Uncertain significance Single submitter
All VAV1 variants
Conflicting classifications of pathogenicity 5
- c.381-8C>A Single submitter
- c.724-11C>T Single submitter
- p.Ala299Thr Single submitter ⚠
- p.Met721Leu Single submitter ⚠
- p.Thr539Ala Single submitter ⚠
Benign 23
- c.1777+19C>T Multiple submitters
- c.322-8C>T Multiple submitters
- c.450-13T>C Multiple submitters
- c.724-7C>T Multiple submitters
- p.Gly170= Multiple submitters
- p.His567= Multiple submitters
- p.Pro508= Multiple submitters
- p.Thr739Met Multiple submitters
- c.1024-8TC[2] Single submitter
- c.1092+7G>C Single submitter
- c.1180-15dup Single submitter
- c.1265+19G>A Single submitter
- c.1508+7C>A Single submitter
- c.1709-11C>T Single submitter
- c.1731+13C>T Single submitter
- c.1981-19TC[3] Single submitter
- c.2217+18C>T Single submitter
- c.2217+8T>C Single submitter
- c.559-11dup Single submitter
- p.Gly515= Single submitter
- p.Gly737= Single submitter
- p.Pro119= Single submitter
- p.Pro615= Single submitter
Benign/Likely benign 5
- p.Glu349= Multiple submitters
- p.His660= Multiple submitters
- p.Thr512= Multiple submitters
- p.Val246= Multiple submitters
- p.Val279Ile Multiple submitters
Likely benign 323
Showing the top 300 by review status; the full set is in the sitemap.
- c.655-5C>G Multiple submitters
- p.Ala298= Multiple submitters
- p.Ile120= Multiple submitters
- p.Lys208= Multiple submitters
- p.Tyr844= Multiple submitters
- c.1023+12A>T Single submitter
- c.1024-16G>C Single submitter
- c.1092+15G>A Single submitter
- c.1092+9G>C Single submitter
- c.1093-11C>T Single submitter
- c.1093-13G>A Single submitter
- c.1093-16C>T Single submitter
- c.1093-18C>T Single submitter
- c.1093-9C>G Single submitter
- c.1179+11G>A Single submitter
- c.1179+16C>T Single submitter
- c.1180-9A>C Single submitter
- c.1265+17_1265+87del Single submitter
- c.1265+18G>A Single submitter
- c.1266-12C>A Single submitter
- c.1266-17G>A Single submitter
- c.1266-19_1266-18delinsAA Single submitter
- c.1266-20T>G Single submitter
- c.1398+16C>T Single submitter
- c.1398+17G>A Single submitter
- c.1398+18G>T Single submitter
- c.1398+20del Single submitter
- c.1399-12G>A Single submitter
- c.1508+10C>T Single submitter
- c.1508+11G>A Single submitter
- c.1508+13C>T Single submitter
- c.1508+20C>G Single submitter
- c.1508+9C>A Single submitter
- c.1509-13T>C Single submitter
- c.1509-15A>T Single submitter
- c.1509-17T>A Single submitter
- c.1509-5G>A Single submitter
- c.1509-6T>C Single submitter
- c.1509-6T>G Single submitter
- c.1610+12G>A Single submitter
- c.1610+14A>C Single submitter
- c.1610+16G>A Single submitter
- c.1610+19G>A Single submitter
- c.1610+20G>A Single submitter
- c.1610+9C>A Single submitter
- c.1611-12C>T Single submitter
- c.1611-18G>A Single submitter
- c.1611-5C>G Single submitter
- c.1611-7A>G Single submitter
- c.1611-8C>T Single submitter
- c.1611-9G>A Single submitter
- c.1708+17G>A Single submitter
- c.1708+18G>T Single submitter
- c.1709-13T>C Single submitter
- c.1709-16C>G Single submitter
- c.1709-4G>A Single submitter
- c.1709-5C>G Single submitter
- c.1709-5C>T Single submitter
- c.1731+10T>C Single submitter
- c.1731+14G>A Single submitter
- c.1731+16G>C Single submitter
- c.1731+9T>C Single submitter
- c.1732-17T>G Single submitter
- c.1777+14G>A Single submitter
- c.1777+8G>A Single submitter
- c.1777+9G>A Single submitter
- c.1777+9G>T Single submitter
- c.1778-11C>T Single submitter
- c.1914+11G>C Single submitter
- c.1914+7G>A Single submitter
- c.1915-17G>A Single submitter
- c.1980+17T>G Single submitter
- c.1981-10G>C Single submitter
- c.1981-12C>T Single submitter
- c.1981-6T>A Single submitter
- c.2012+11A>G Single submitter
- c.2013-16T>C Single submitter
- c.2013-18C>G Single submitter
- c.2013-18C>T Single submitter
- c.2013-19C>T Single submitter
- c.2013-4G>A Single submitter
- c.2013-6T>C Single submitter
- c.2013-8C>T Single submitter
- c.204+11212C>G Single submitter
- c.204+11C>T Single submitter
- c.204+12G>A Single submitter
- c.204+13C>T Single submitter
- c.204+14G>A Single submitter
- c.204+16G>A Single submitter
- c.205-11T>A Single submitter
- c.205-14C>T Single submitter
- c.205-16C>A Single submitter
- c.205-16C>T Single submitter
- c.2129+12C>T Single submitter
- c.2129+14C>G Single submitter
- c.2129+19A>T Single submitter
- c.2129+20C>G Single submitter
- c.2129+8del Single submitter
- c.2130-11T>C Single submitter
- c.2130-12A>G Single submitter
- c.2130-15A>G Single submitter
- c.2130-19G>A Single submitter
- c.2130-20C>G Single submitter
- c.2130-20C>T Single submitter
- c.2130-7G>C Single submitter
- c.2130-7G>T Single submitter
- c.2217+16C>T Single submitter
- c.2217+17G>A Single submitter
- c.2218-10C>T Single submitter
- c.2218-14G>T Single submitter
- c.2218-18A>T Single submitter
- c.2218-20C>T Single submitter
- c.2218-8C>T Single submitter
- c.2218-9G>A Single submitter
- c.2332+18G>C Single submitter
- c.2332+20G>A Single submitter
- c.2332+8G>T Single submitter
- c.2333-10C>T Single submitter
- c.2333-14T>A Single submitter
- c.2333-15G>A Single submitter
- c.2333-15G>T Single submitter
- c.2333-18del Single submitter
- c.2484+15G>A Single submitter
- c.2484+16C>A Single submitter
- c.2484+9G>A Single submitter
- c.2485-12G>A Single submitter
- c.2485-13C>T Single submitter
- c.2485-15_2485-13del Single submitter
- c.2485-17T>G Single submitter
- c.321+12A>C Single submitter
- c.321+13C>T Single submitter
- c.321+14T>C Single submitter
- c.321+16G>A Single submitter
- c.322-7G>A Single submitter
- c.380+17G>A Single submitter
- c.381-15C>T Single submitter
- c.381-17C>T Single submitter
- c.381-4C>G Single submitter
- c.381-8C>T Single submitter
- c.381-9A>G Single submitter
- c.449+10C>G Single submitter
- c.449+12G>A Single submitter
- c.449+13G>A Single submitter
- c.450-20C>T Single submitter
- c.450-6C>G Single submitter
- c.558+10G>A Single submitter
- c.558+16G>A Single submitter
- c.558+19C>T Single submitter
- c.558+9C>G Single submitter
- c.558+9C>T Single submitter
- c.559-14C>A Single submitter
- c.559-16C>G Single submitter
- c.559-24_559-20del Single submitter
- c.559-9C>T Single submitter
- c.654+11C>G Single submitter
- c.654+13C>T Single submitter
- c.654+16C>T Single submitter
- c.654+18A>G Single submitter
- c.654+20C>T Single submitter
- c.654+7G>A Single submitter
- c.654+8C>T Single submitter
- c.655-10T>G Single submitter
- c.655-4G>A Single submitter
- c.655-5C>T Single submitter
- c.723+12G>A Single submitter
- c.723+15C>T Single submitter
- c.723+7C>T Single submitter
- c.723+8G>A Single submitter
- c.724-15C>A Single submitter
- c.724-15C>G Single submitter
- c.724-16C>A Single submitter
- c.827+15G>A Single submitter
- c.827+9C>T Single submitter
- c.828-10C>T Single submitter
- c.828-15_828-13del Single submitter
- c.828-15G>A Single submitter
- c.828-15G>C Single submitter
- c.927+10G>A Single submitter
- c.927+12G>A Single submitter
- c.927+12G>T Single submitter
- c.927+19C>A Single submitter
- c.927+7G>A Single submitter
- c.928-12C>T Single submitter
- c.928-6C>T Single submitter
- p.Ala168= Single submitter
- p.Ala264= Single submitter
- p.Ala290= Single submitter
- p.Ala350= Single submitter
- p.Ala362= Single submitter
- p.Ala513= Single submitter
- p.Ala54= Single submitter
- p.Ala551= Single submitter
- p.Ala673= Single submitter
- p.Ala795= Single submitter
- p.Ala96= Single submitter
- p.Arg15= Single submitter
- p.Arg22= Single submitter
- p.Arg314= Single submitter
- p.Arg319= Single submitter
- p.Arg323= Single submitter
- p.Arg38= Single submitter
- p.Arg381= Single submitter
- p.Arg416= Single submitter
- p.Arg455= Single submitter
- p.Arg462= Single submitter
- p.Arg640= Single submitter
- p.Arg678= Single submitter
- p.Arg90= Single submitter
- p.Asn317= Single submitter
- p.Asn355= Single submitter
- p.Asn448= Single submitter
- p.Asn514= Single submitter
- p.Asn56= Single submitter
- p.Asn712= Single submitter
- p.Asp171= Single submitter
- p.Asp303= Single submitter
- p.Asp442= Single submitter
- p.Asp665= Single submitter
- p.Asp690= Single submitter
- p.Asp792= Single submitter
- p.Cys162= Single submitter
- p.Cys284= Single submitter
- p.Cys369= Single submitter
- p.Cys529= Single submitter
- p.Cys532= Single submitter
- p.Cys557= Single submitter
- p.Cys7= Single submitter
- p.Cys71= Single submitter
- p.Cys794= Single submitter
- p.Gln368= Single submitter
- p.Gln65= Single submitter
- p.Glu172= Single submitter
- p.Glu181= Single submitter
- p.Glu302= Single submitter
- p.Glu354= Single submitter
- p.Glu475Lys Single submitter
- p.Glu500= Single submitter
- p.Glu525= Single submitter
- p.Glu591= Single submitter
- p.Glu598= Single submitter
- p.Glu602= Single submitter
- p.Glu633= Single submitter
- p.Glu805= Single submitter
- p.Gly125= Single submitter
- p.Gly144= Single submitter
- p.Gly262= Single submitter
- p.Gly27= Single submitter
- p.Gly401= Single submitter
- p.Gly593= Single submitter
- p.Gly605= Single submitter
- p.Gly674= Single submitter
- p.Gly680= Single submitter
- p.Gly691= Single submitter
- p.Gly806= Single submitter
- p.Gly827= Single submitter
- p.His469= Single submitter
- p.Ile126= Single submitter
- p.Ile149= Single submitter
- p.Ile202= Single submitter
- p.Ile383= Single submitter
- p.Ile474= Single submitter
- p.Ile506= Single submitter
- p.Leu11= Single submitter
- p.Leu199= Single submitter
- p.Leu213= Single submitter
- p.Leu221= Single submitter
- p.Leu243= Single submitter
- p.Leu278= Single submitter
- p.Leu338= Single submitter
- p.Leu356= Single submitter
- p.Leu380= Single submitter
- p.Leu409= Single submitter
- p.Leu427= Single submitter
- p.Leu43= Single submitter
- p.Leu431= Single submitter
- p.Leu46= Single submitter
- p.Leu62= Single submitter
- p.Leu666= Single submitter
- p.Leu88= Single submitter
- p.Lys194= Single submitter
- p.Lys222= Single submitter
- p.Lys307= Single submitter
- p.Lys419= Single submitter
- p.Lys700= Single submitter
- p.Lys716= Single submitter
- p.Lys814= Single submitter
- p.Phe100= Single submitter
- p.Phe250= Single submitter
- p.Phe499= Single submitter
- p.Phe540= Single submitter
- p.Phe78= Single submitter
- p.Phe86= Single submitter
- p.Phe94= Single submitter
- p.Phe97= Single submitter
- p.Pro128= Single submitter
- p.Pro18= Single submitter
- p.Pro563= Single submitter
- p.Pro621= Single submitter
- p.Ser146= Single submitter
- p.Ser180= Single submitter
Uncertain significance 268
- p.Ala168Val Multiple submitters ⚠
- p.Ala362Thr Multiple submitters ⚠
- p.Ala734Thr Multiple submitters
- p.Arg15Gln Multiple submitters ⚠
- p.Arg179Ser Multiple submitters ⚠
- p.Arg195His Multiple submitters VAV1-related disorder ⚠
- p.Arg282His Multiple submitters ⚠
- p.Arg296His Multiple submitters ⚠
- p.Arg436His Multiple submitters
- p.Arg545His Multiple submitters ⚠
- p.Arg545Leu Multiple submitters ⚠
- p.Arg582Cys Multiple submitters ⚠
- p.Arg618Trp Multiple submitters ⚠
- p.Arg728Trp Multiple submitters ⚠
- p.Arg736Gln Multiple submitters ⚠
- p.Arg828Gln Multiple submitters ⚠
- p.Asn645His Multiple submitters ⚠
- p.Asp158Asn Multiple submitters ⚠
- p.Cys196Tyr Multiple submitters ⚠
- p.Gln217Arg Multiple submitters ⚠
- p.Gln217Lys Multiple submitters ⚠
- p.Gln480His Multiple submitters ⚠
- p.Gln601His Multiple submitters ⚠
- p.Glu769Ala Multiple submitters ⚠
- p.Gly568Arg Multiple submitters ⚠
- p.His581Arg Multiple submitters ⚠
- p.Ile173Val Multiple submitters ⚠
- p.Ile240Thr Multiple submitters ⚠
- p.Ile613Asn Multiple submitters ⚠
- p.Ile684Val Multiple submitters ⚠
- p.Lys804Thr Multiple submitters ⚠
- p.Pro609Leu Multiple submitters ⚠
- p.Pro610Ala Multiple submitters ⚠
- p.Pro662Thr Multiple submitters ⚠
- p.Pro675Ser Multiple submitters VAV1-related disorder
- p.Ser689Leu Multiple submitters
- p.Thr512Ala Multiple submitters ⚠
- p.Thr628Met Multiple submitters ⚠
- p.Tyr192Ser Multiple submitters ⚠
- p.Val713Ile Multiple submitters ⚠
- c.1266-3C>T Single submitter
- c.1398+6G>T Single submitter
- c.1509-1G>A Single submitter
- c.1611-15T>C Single submitter
- c.1708+4C>T Single submitter
- c.1708+5G>A Single submitter
- c.1708+5G>T Single submitter
- c.1914+4C>T Single submitter
- c.2013-3C>A Single submitter
- c.2129+5C>G Single submitter
- c.2129+6T>G Single submitter
- c.2130-51_2130-16del Single submitter
- c.2217+6G>C Single submitter
- c.2218-5T>A Single submitter
- c.380+3G>A Single submitter
- c.381-2dup Single submitter
- c.558+4C>T Single submitter
- c.558+5G>A Single submitter
- c.558+6T>C Single submitter
- c.654+4G>A Single submitter
- c.655-3C>T Single submitter
- c.724-3T>C Single submitter
- c.724-9T>A Single submitter
- c.827+1G>A Single submitter
- c.827+6A>C Single submitter
- c.927+6C>T Single submitter
- p.Ala121Ser Single submitter ⚠
- p.Ala263Glu Single submitter
- p.Ala263Thr Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala298Thr Single submitter ⚠
- p.Ala299Ser Single submitter ⚠
- p.Ala315Val Single submitter ⚠
- p.Ala350Val Single submitter ⚠
- p.Ala513Gly Single submitter ⚠
- p.Ala513Thr Single submitter ⚠
- p.Ala673Ser Single submitter ⚠
- p.Ala673Thr Single submitter ⚠
- p.Ala686Asn Single submitter
- p.Ala702Glu Single submitter ⚠
- p.Ala734Val Single submitter
- p.Ala777Glu Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg200Trp Single submitter ⚠
- p.Arg226Trp Single submitter ⚠
- p.Arg245Leu Single submitter ⚠
- p.Arg282Cys Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Arg364Lys Single submitter ⚠
- p.Arg436Leu Single submitter ⚠
- p.Arg545Cys Single submitter ⚠
- p.Arg548Gln Single submitter ⚠
- p.Arg548Trp Single submitter ⚠
- p.Arg550Trp Single submitter ⚠
- p.Arg566Gln Single submitter ⚠
- p.Arg566Ter Single submitter
- p.Arg582His Single submitter ⚠
- p.Arg589Ser Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Arg618Gln Single submitter ⚠
- p.Arg63Cys Single submitter ⚠
- p.Arg63His Single submitter ⚠
- p.Arg688Cys Single submitter ⚠
- p.Arg696Gln Single submitter ⚠
- p.Arg736Trp Single submitter ⚠
- p.Arg790His Single submitter ⚠
- p.Arg822Gln Single submitter ⚠
- p.Arg90Gln Single submitter ⚠
- p.Arg90Trp Single submitter ⚠
- p.Asn265Ser Single submitter ⚠
- p.Asn464Lys Single submitter ⚠
- p.Asn49del Single submitter
- p.Asn514Lys Single submitter ⚠
- p.Asn653Lys Single submitter ⚠
- p.Asn687Ser Single submitter ⚠
- p.Asn813Lys Single submitter ⚠
- p.Asp101Asn Single submitter ⚠
- p.Asp147Asn Single submitter ⚠
- p.Asp150= Single submitter
- p.Asp150Asn Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Asp158Val Single submitter
- p.Asp171Ala Single submitter ⚠
- p.Asp171Gly Single submitter ⚠
- p.Asp295Glu Single submitter ⚠
- p.Asp303fs Single submitter hearing loss disorder
- p.Asp428Tyr Single submitter ⚠
- p.Asp442Glu Single submitter ⚠
- p.Asp461His Single submitter ⚠
- p.Asp476Val Single submitter ⚠
- p.Asp586Asn Single submitter ⚠
- p.Asp623Gly Single submitter ⚠
- p.Asp690Asn Single submitter ⚠
- p.Asp807Glu Single submitter ⚠
- p.Cys652Tyr Single submitter ⚠
- p.Cys753Phe Single submitter ⚠
- p.Gln122Arg Single submitter ⚠
- p.Gln453Leu Single submitter ⚠
- p.Gln477His Single submitter ⚠
- p.Gln697Arg Single submitter
- p.Gln817Glu Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu132Val Single submitter ⚠
- p.Glu134Gln Single submitter ⚠
- p.Glu139Lys Single submitter ⚠
- p.Glu181Val Single submitter ⚠
- p.Glu201Lys Single submitter ⚠
- p.Glu241Lys Single submitter ⚠
- p.Glu275Lys Single submitter ⚠
- p.Glu2Gln Single submitter ⚠
- p.Glu391fs Single submitter
- p.Glu490Gln Single submitter ⚠
- p.Glu591Lys Single submitter ⚠
- p.Glu626Gln Single submitter ⚠
- p.Glu631Val Single submitter ⚠
- p.Glu646Gly Single submitter ⚠
- p.Glu682Asp Single submitter ⚠
- p.Glu724Ala Single submitter
- p.Glu724del Single submitter
- p.Glu740Asp Single submitter ⚠
- p.Glu824Asp Single submitter ⚠
- p.Glu824Lys Single submitter ⚠
- p.Glu95Lys Single submitter ⚠
- p.Gly259Ser Single submitter ⚠
- p.Gly318Arg Single submitter ⚠
- p.Gly460Arg Single submitter
- p.Gly460Val Single submitter ⚠
- p.Gly515Arg Single submitter ⚠
- p.Gly515Glu Single submitter ⚠
- p.Gly543Ser Single submitter ⚠
- p.Gly565Ser Single submitter ⚠
- p.Gly573Val Single submitter ⚠
- p.Gly593Asp Single submitter ⚠
- p.Gly691Arg Single submitter ⚠
- p.Gly737Glu Single submitter ⚠
- p.Gly819Ser Single submitter ⚠
- p.Gly87Ser Single submitter ⚠
- p.His450Tyr Single submitter ⚠
- p.His469Tyr Single submitter ⚠
- p.His9Arg Single submitter ⚠
- p.Ile235Asn Single submitter ⚠
- p.Ile235Phe Single submitter ⚠
- p.Ile238Leu Single submitter ⚠
- p.Ile411Val Single submitter ⚠
- p.Ile503= Single submitter
- p.Ile624Val Single submitter ⚠
- p.Ile684Thr Single submitter ⚠
- p.Ile718Val Single submitter ⚠
- p.Leu278Val Single submitter ⚠
- p.Leu325Met Single submitter ⚠
- p.Leu338Phe Single submitter ⚠
- p.Leu339Ile Single submitter ⚠
- p.Leu340Pro Single submitter ⚠
- p.Leu37Phe Single submitter ⚠
- p.Leu619Phe Single submitter ⚠
- p.Leu670Phe Single submitter ⚠
- p.Leu761Val Single submitter ⚠
- p.Lys107= Single submitter
- p.Lys307Arg Single submitter ⚠
- p.Lys466Gln Single submitter ⚠
- p.Lys596fs Single submitter
- p.Met127Ile Single submitter ⚠
- p.Met185Ile Single submitter ⚠
- p.Met185Leu Single submitter ⚠
- p.Met351Leu Single submitter ⚠
- p.Met363Thr Single submitter ⚠
- p.Met470Val Single submitter ⚠
- p.Phe320Leu Single submitter ⚠
- p.Phe471Leu Single submitter ⚠
- p.Phe523Ser Single submitter ⚠
- p.Phe650Ile Single submitter ⚠
- p.Phe693Leu Single submitter ⚠
- p.Phe705Leu Single submitter ⚠
- p.Phe784Leu Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro130Arg Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro186Thr Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro223Ala Single submitter ⚠
- p.Pro261Arg Single submitter ⚠
- p.Pro608Thr Single submitter ⚠
- p.Pro609Thr Single submitter ⚠
- p.Pro610Ser Single submitter ⚠
- p.Pro615Leu Single submitter ⚠
- p.Pro621Leu Single submitter ⚠
- p.Pro675Leu Single submitter ⚠
- p.Pro768Thr Single submitter ⚠
- p.Ser285Thr Single submitter ⚠
- p.Ser683Gly Single submitter ⚠
- p.Ser756Tyr Single submitter
- p.Ser780Asn Single submitter ⚠
- p.Ser802Leu Single submitter ⚠
- p.Thr111Ile Single submitter ⚠
- p.Thr118Ile Single submitter ⚠
- p.Thr152Lys Single submitter ⚠
- p.Thr24Ile Single submitter
- p.Thr412Ile Single submitter ⚠
- p.Thr488Lys Single submitter ⚠
- p.Thr527Ala Single submitter ⚠
- p.Thr628Arg Single submitter ⚠
- p.Thr644= Single submitter
- p.Thr644Ala Single submitter ⚠
- p.Thr644Ile Single submitter ⚠
- p.Thr739fs Single submitter
- p.Thr739Lys Single submitter ⚠
- p.Thr759Ala Single submitter
- p.Thr760Ile Single submitter ⚠
- p.Trp636Ter Single submitter
- p.Trp831Cys Single submitter ⚠
- p.Tyr110His Single submitter ⚠
- p.Tyr209His Single submitter ⚠
- p.Tyr273His Single submitter ⚠
- p.Tyr507His Single submitter ⚠
- p.Tyr672Cys Single submitter ⚠
- p.Tyr841Phe Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val23Met Single submitter ⚠
- p.Val246Phe Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val328Met Single submitter ⚠
- p.Val333Ile Single submitter ⚠
- p.Val454Ile Single submitter ⚠
- p.Val695Met Single submitter ⚠
- p.Val699Leu Single submitter ⚠
- p.Val778Glu Single submitter ⚠
- p.Val837Ala Single submitter ⚠
- p.Glu154Ala No assertion criteria ⚠