WAC — 416 ClinVar variants
All ClinVar germline WAC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 141 flagged for review →
80 Pathogenic · 6 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 11 Conflicting · 40 Benign · 4 Benign/Likely benign · 83 Likely benign · 160 Uncertain significance
Full WAC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 141
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
WAC p.Arg47Gln
Conflicting
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Asn434Ser
Conflicting
Single submitter
Inborn genetic diseases
-
WAC p.Gln487Pro
Conflicting
Single submitter
Inborn genetic diseases
-
WAC p.Pro557Ala
Conflicting
Single submitter
Inborn genetic diseases
-
WAC p.Thr482Ala
Conflicting
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Val381Met
Conflicting
Single submitter
Inborn genetic diseases
-
WAC p.Val542Ile
Conflicting
Single submitter
Inborn genetic diseases
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.
-
WAC p.Gln624Ter
Conflicting
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
Predictors lean, ClinVar uncertain 103
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
WAC p.Ala237Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WAC p.Ala413Thr
Uncertain significance
Multiple submitters
DeSanto-Shinawi syndrome due to WAC point mutation
- WAC p.Asn119Ser Uncertain significance Multiple submitters
-
WAC p.Gln358Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WAC p.His274Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WAC p.Ser493Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WAC p.Ser519Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WAC p.Thr338Ile
Uncertain significance
Multiple submitters
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Trp157Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WAC p.Tyr146Cys Uncertain significance Multiple submitters
-
WAC p.Ala132Val
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Ala194Gly Uncertain significance Single submitter
- WAC p.Ala212Asp Uncertain significance Single submitter
-
WAC p.Ala300Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ala413Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ala49Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Ala501Val Uncertain significance Single submitter
- WAC p.Ala78Asp Uncertain significance Single submitter
- WAC p.Ala78Ser Uncertain significance Single submitter
- WAC p.Arg151Gly Uncertain significance Single submitter
-
WAC p.Arg364Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Arg42Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Arg513Gln
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Arg517Cys
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
- WAC p.Arg550Gln Uncertain significance Single submitter
-
WAC p.Asn116Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Asn149Tyr Uncertain significance Single submitter
-
WAC p.Asn228Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Asn415Ser Uncertain significance Single submitter
-
WAC p.Asn415Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Asn533Asp
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
- WAC p.Asn536Asp Uncertain significance Single submitter
- WAC p.Asn539Lys Uncertain significance Single submitter
-
WAC p.Asp63Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Gln545His
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome
- WAC p.Gly143Ala Uncertain significance Single submitter
- WAC p.Gly203Val Uncertain significance Single submitter
-
WAC p.Gly506Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Gly50Val Uncertain significance Single submitter
- WAC p.His102Asp Uncertain significance Single submitter
-
WAC p.His255Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.His274Leu Uncertain significance Single submitter
- WAC p.His578Leu Uncertain significance Single submitter
- WAC p.Ile220Leu Uncertain significance Single submitter
-
WAC p.Ile353Val
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Ile386Lys Uncertain significance Single submitter
- WAC p.Ile465Val Uncertain significance Single submitter
-
WAC p.Leu11Phe
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Leu215Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Leu330Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Leu367Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Lys123Gln
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Lys161Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Lys503Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Lys581Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Lys79Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Met598Val
Uncertain significance
Single submitter
WAC-related disorder
-
WAC p.Pro128Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Pro294Ala
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Pro314His
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Pro349Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Pro432Ala Uncertain significance Single submitter
-
WAC p.Pro432Leu
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Pro432Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Pro472Leu Uncertain significance Single submitter
-
WAC p.Pro483Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Pro55Ser
Uncertain significance
Single submitter
intellectual disability
-
WAC p.Ser101Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Ser105Gly Uncertain significance Single submitter
-
WAC p.Ser105Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ser140Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ser180Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Ser210Gly Uncertain significance Single submitter
- WAC p.Ser210Thr Uncertain significance Single submitter
-
WAC p.Ser265Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Ser286Tyr Uncertain significance Single submitter
-
WAC p.Ser308Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Ser32Leu Uncertain significance Single submitter
- WAC p.Ser339Pro Uncertain significance Single submitter
-
WAC p.Ser346Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ser37Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ser520Gly
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
- WAC p.Ser548Phe Uncertain significance Single submitter
- WAC p.Ser70Gly Uncertain significance Single submitter
-
WAC p.Ser94Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Thr152Ile Uncertain significance Single submitter
-
WAC p.Thr259Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Thr259Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Thr269Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Thr320Lys Uncertain significance Single submitter
- WAC p.Thr324Ser Uncertain significance Single submitter
-
WAC p.Thr338Ala
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
- WAC p.Thr408Ser Uncertain significance Single submitter
- WAC p.Thr541Ala Uncertain significance Single submitter
-
WAC p.Thr541Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Thr552Met
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Thr93Ser Uncertain significance Single submitter
- WAC p.Trp135Gly Uncertain significance Single submitter
- WAC p.Tyr147His Uncertain significance Single submitter
-
WAC p.Tyr148Ser
Uncertain significance
Single submitter
intellectual disability
- WAC p.Val389Ile Uncertain significance Single submitter
-
WAC p.Val499Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.His530Arg
Uncertain significance
No assertion criteria
WAC-related disorder
Predictors split 30
The independent predictors disagree with each other — read with care.
-
WAC p.Arg622Gln
Uncertain significance
Multiple submitters
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Leu426Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WAC p.Leu605Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WAC p.Ser222Tyr
Uncertain significance
Multiple submitters
WAC-related disorder
- WAC p.Ala369Gly Uncertain significance Single submitter
- WAC p.Arg522Ser Uncertain significance Single submitter
- WAC p.Arg60Gln Uncertain significance Single submitter
-
WAC p.Arg60Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Arg61Gly Uncertain significance Single submitter
- WAC p.Arg87Thr Uncertain significance Single submitter
- WAC p.Asn377Asp Uncertain significance Single submitter
- WAC p.Gln371His Uncertain significance Single submitter
- WAC p.Gln632His Uncertain significance Single submitter
- WAC p.Glu589Gly Uncertain significance Single submitter
-
WAC p.Ile626Lys
Uncertain significance
Single submitter
DeSanto-Shinawi syndrome due to WAC point mutation
-
WAC p.Ile626Met
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Leu362His Uncertain significance Single submitter
-
WAC p.Leu399Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Lys405Glu Uncertain significance Single submitter
-
WAC p.Lys45Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Met646Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Pro437Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Pro483Arg Uncertain significance Single submitter
- WAC p.Ser325Cys Uncertain significance Single submitter
-
WAC p.Ser384Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ser433Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Ser520Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- WAC p.Thr603Ile Uncertain significance Single submitter
-
WAC p.Val614Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WAC p.Val647Met
Uncertain significance
Single submitter
Inborn genetic diseases
All WAC variants
Pathogenic 80
- c.1746+2T>C Multiple submitters Neurodevelopmental delay
- p.Arg151Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Arg47Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Arg513Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Arg550Ter Multiple submitters Inborn genetic diseases
- p.Arg85fs Multiple submitters Paediatric disorders
- p.Asn387fs Multiple submitters
- p.Gln170Ter Multiple submitters WAC-related neurodevelopmental disorder
- p.Gln193Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Glu88fs Multiple submitters Inborn genetic diseases
- p.His104fs Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser110Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Thr224fs Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- c.1165+2T>C Single submitter
- c.1438-1G>T Single submitter
- c.1556+1G>A Single submitter
- c.1747-1G>A Single submitter
- c.382-2A>G Single submitter
- c.498-2A>G Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ala285fs Single submitter
- p.Arg10fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Arg305fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Arg622fs Single submitter
- p.Arg89fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Asn461fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Asp126fs Single submitter Inborn genetic diseases
- p.Asp502Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln156fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln156Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln350Ter Single submitter DeSanto-Shinawi syndrome
- p.Gln358fs Single submitter
- p.Gln358Ter Single submitter
- p.Gln435Ter Single submitter
- p.Gln492fs Single submitter WAC-related disorder
- p.Gln492Ter Single submitter
- p.Gln545fs Single submitter DeSanto-Shinawi syndrome
- p.Gln545Ter Single submitter
- p.Gln9Ter Single submitter
- p.Glu162fs Single submitter neurodevelopmental disorder
- p.His102fs Single submitter Inborn genetic diseases
- p.His570fs Single submitter
- p.His597fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.His84fs Single submitter
- p.Ile220fs Single submitter
- p.Ile469fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ile568fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Leu419fs Single submitter
- p.Lys161fs Single submitter
- p.Lys290fs Single submitter
- p.Lys68fs Single submitter
- p.Pro264fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Pro332fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Pro368fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Pro52fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser105fs Single submitter
- p.Ser118fs Single submitter
- p.Ser125Ter Single submitter Inborn genetic diseases
- p.Ser198fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser286fs Single submitter
- p.Ser316Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser38fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser412fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser446_Pro447insAsnIleTer Single submitter
- p.Ser481Ter Single submitter Paediatric disorders
- p.Ser523fs Single submitter
- p.Ser551fs Single submitter WAC-related disorder
- p.Ser584Ter Single submitter Inborn genetic diseases
- p.Ser76fs Single submitter
- p.Thr391fs Single submitter
- p.Trp135Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Tyr148Ter Single submitter
- p.Tyr95Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Val298fs Single submitter
- p.Val612fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Val86fs Single submitter
- c.1557-184_1747-188del No assertion criteria DeSanto-Shinawi syndrome due to WAC point mutation
- p.Asp90fs No assertion criteria DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln618Ter No assertion criteria DeSanto-Shinawi syndrome due to WAC point mutation
- p.Trp574Ter No assertion criteria DeSanto-Shinawi syndrome due to WAC point mutation
- p.Tyr69Ter No assertion criteria DeSanto-Shinawi syndrome due to WAC point mutation
Pathogenic/Likely pathogenic 6
- c.1437+1G>A Multiple submitters Shwachman-Diamond syndrome
- p.Arg613Ter Multiple submitters Neurodevelopmental abnormality
- p.Arg622Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln400Ter Multiple submitters
- p.Ser101Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser449Ter Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
Likely pathogenic 32
- c.381+1G>T Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- c.1556+2T>G Single submitter
- c.1746+1G>A Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- c.1747-2A>G Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- c.275-1G>A Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- c.497+2T>G Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- c.610+2T>G Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ala201fs Single submitter WAC-related disorder
- p.Arg169fs Single submitter neurodevelopmental disorder
- p.Arg47fs Single submitter WAC-related disorder
- p.Asp186fs Single submitter
- p.Gln23Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln271Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln504Ter Single submitter WAC-related disorder
- p.Glu158fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gly91fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.His530fs Single submitter
- p.Ile420fs Single submitter WAC-related disorder
- p.Met58fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Pro36fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Pro512fs Single submitter WAC-related disorder
- p.Ser279Ter Single submitter WAC-related disorder
- p.Ser427fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser470fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ser493fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Thr333fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Thr417fs Single submitter WAC-related disorder
- p.Thr482fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Tyr147fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Tyr450fs Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Tyr450Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Asn607fs No assertion criteria
Conflicting classifications of pathogenicity 11
- c.274+3G>A Single submitter Inborn genetic diseases
- c.381+4_381+7del Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Arg47Gln Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Asn434Ser Single submitter Inborn genetic diseases ⚠
- p.Gln487Pro Single submitter Inborn genetic diseases ⚠
- p.Gln624Ter Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Pro557Ala Single submitter Inborn genetic diseases ⚠
- p.Thr482Ala Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Val154Ile Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Val381Met Single submitter Inborn genetic diseases ⚠
- p.Val542Ile Single submitter Inborn genetic diseases ⚠
Benign 40
- c.1556+157G>A Multiple submitters
- c.1556+50A>G Multiple submitters
- c.1557-23A>G Multiple submitters
- c.1875-27G>T Multiple submitters
- c.610+77A>G Multiple submitters
- c.78+163G>A Multiple submitters
- c.79-227G>T Multiple submitters
- c.920-28T>G Multiple submitters
- c.-136A>C Multiple submitters
- p.Arg622= Multiple submitters
- p.Lys144= Multiple submitters
- p.Ser452= Multiple submitters
- p.Thr309Ala Multiple submitters
- c.1165+325G>A Single submitter
- c.1166-158G>T Single submitter
- c.1166-305T>C Single submitter
- c.1288+102dup Single submitter
- c.1288+35C>T Single submitter
- c.1437+31G>T Single submitter
- c.1438-222G>A Single submitter
- c.1438-96_1438-95insTCTTCTTTAAAACA Single submitter
- c.1875-124T>A Single submitter
- c.1875-292C>A Single submitter
- c.274+140dup Single submitter
- c.274+52A>G Single submitter
- c.381+107dup Single submitter
- c.381+63dup Single submitter
- c.41+38G>T Single submitter
- c.497+14A>T Single submitter
- c.498-46G>T Single submitter
- c.611-300G>A Single submitter
- c.611-33C>G Single submitter
- c.78+164C>T Single submitter
- c.79-6T>C Single submitter
- c.*37A>G Single submitter
- p.Met593Val Single submitter
- p.Thr257Ala Single submitter
- p.Tyr95Cys Single submitter
- p.Val542Phe Single submitter
- c.1875-4dup No assertion criteria WAC-related disorder
Benign/Likely benign 4
- p.Pro464Leu Multiple submitters Inborn genetic diseases
- p.Pro478Thr Multiple submitters
- p.Thr195Ala Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Thr417= Multiple submitters
Likely benign 83
- c.274+256G>A Multiple submitters
- c.381+106T>A Multiple submitters
- c.381+107T>A Multiple submitters
- c.382-195A>G Multiple submitters
- c.497+69A>G Multiple submitters
- c.*167T>C Multiple submitters
- p.Glu190= Multiple submitters
- p.His113Tyr Multiple submitters Inborn genetic diseases
- p.Pro314= Multiple submitters
- p.Pro472Thr Multiple submitters
- p.Ser214Gly Multiple submitters Inborn genetic diseases
- p.Thr269Met Multiple submitters Inborn genetic diseases
- p.Thr293= Multiple submitters
- p.Thr324Lys Multiple submitters Inborn genetic diseases
- p.Val246Leu Multiple submitters Inborn genetic diseases
- c.1166-19T>G Single submitter
- c.1288+163A>G Single submitter
- c.1288+19G>A Single submitter
- c.1288+97T>C Single submitter
- c.1289-116T>C Single submitter
- c.1289-12C>T Single submitter
- c.1438-258_1438-257insTTAGCCGGGATG Single submitter
- c.1438-304G>A Single submitter
- c.1556+51C>T Single submitter
- c.1746+158T>C Single submitter
- c.1746+4T>C Single submitter Inborn genetic diseases
- c.1747-7A>T Single submitter
- c.1875-276C>T Single submitter
- c.1875-287A>C Single submitter
- c.274+12181GA[2] Single submitter
- c.274+13C>A Single submitter
- c.274+255C>T Single submitter
- c.381+11T>C Single submitter
- c.382-18A>C Single submitter
- c.41+10C>T Single submitter
- c.41+40GGC[4] Single submitter
- c.41+40GGC[5] Single submitter
- c.497+126G>A Single submitter
- c.497+331A>G Single submitter
- c.498-8A>G Single submitter
- c.498-9del Single submitter
- c.498-9dup Single submitter
- c.79-20G>C Single submitter
- c.79-227del Single submitter
- c.920-17A>C Single submitter
- p.Arg151Gln Single submitter
- p.Arg169= Single submitter intellectual disability
- p.Asn119Ile Single submitter
- p.Asn149Ser Single submitter Inborn genetic diseases
- p.Asn546Ser Single submitter Inborn genetic diseases
- p.Asn641= Single submitter
- p.Asp130Glu Single submitter
- p.Asp273= Single submitter
- p.Gln218Arg Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- p.Gln618= Single submitter
- p.Gly92= Single submitter
- p.His108= Single submitter
- p.Ile601Thr Single submitter
- p.Leu215Phe Single submitter
- p.Leu216= Single submitter
- p.Leu611= Single submitter
- p.Leu639= Single submitter
- p.Met58Ile Single submitter Inborn genetic diseases
- p.Phe280Ser Single submitter
- p.Pro437= Single submitter
- p.Pro512Leu Single submitter
- p.Ser12Asn Single submitter
- p.Ser279= Single submitter
- p.Ser351= Single submitter
- p.Ser351Leu Single submitter Inborn genetic diseases
- p.Ser38= Single submitter
- p.Ser470Gly Single submitter Inborn genetic diseases
- p.Thr152= Single submitter
- p.Thr239Ile Single submitter
- p.Thr244Pro Single submitter Inborn genetic diseases
- p.Thr324Met Single submitter
- p.Thr333Ala Single submitter Inborn genetic diseases
- p.Thr373= Single submitter
- p.Thr373Met Single submitter
- p.Thr441= Single submitter
- p.Thr482Ile Single submitter
- p.Ser296Thr No assertion criteria WAC-related disorder
- p.Ser32= No assertion criteria WAC-related disorder
Uncertain significance 160
- c.1289-9C>G Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation
- p.Ala237Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala413Thr Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Arg622Gln Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Asn119Ser Multiple submitters ⚠
- p.Gln358Pro Multiple submitters Inborn genetic diseases ⚠
- p.His274Asn Multiple submitters Inborn genetic diseases ⚠
- p.His562Leu Multiple submitters Inborn genetic diseases
- p.Leu363del Multiple submitters Inborn genetic diseases
- p.Leu426Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu605Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser222Tyr Multiple submitters WAC-related disorder ⚠
- p.Ser493Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser519Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr338Ile Multiple submitters DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Trp157Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr146Cys Multiple submitters ⚠
- c.1165+1G>A Single submitter Inborn genetic diseases
- c.1165+4A>G Single submitter
- c.1289-5T>G Single submitter
- c.1437+5G>A Single submitter
- c.1557-6T>C Single submitter
- c.1746+3_1746+6del Single submitter
- c.1874+6T>G Single submitter
- c.275-22319G>T Single submitter DeSanto-Shinawi syndrome due to WAC point mutation
- c.275-2del Single submitter Inborn genetic diseases
- c.611-3A>C Single submitter
- p.Ala132Val Single submitter Inborn genetic diseases ⚠
- p.Ala194Gly Single submitter ⚠
- p.Ala212Asp Single submitter ⚠
- p.Ala300Val Single submitter Inborn genetic diseases ⚠
- p.Ala369Gly Single submitter ⚠
- p.Ala413Ser Single submitter Inborn genetic diseases ⚠
- p.Ala49Thr Single submitter Inborn genetic diseases ⚠
- p.Ala501Val Single submitter ⚠
- p.Ala78Asp Single submitter ⚠
- p.Ala78Ser Single submitter ⚠
- p.Arg151Gly Single submitter ⚠
- p.Arg364Gly Single submitter Inborn genetic diseases ⚠
- p.Arg42Lys Single submitter Inborn genetic diseases ⚠
- p.Arg513Gln Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Arg517Cys Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Arg522Ser Single submitter ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg60Gln Single submitter ⚠
- p.Arg60Trp Single submitter Inborn genetic diseases ⚠
- p.Arg61Gly Single submitter ⚠
- p.Arg87Thr Single submitter ⚠
- p.Asn116Lys Single submitter Inborn genetic diseases ⚠
- p.Asn149Tyr Single submitter ⚠
- p.Asn228Ser Single submitter Inborn genetic diseases ⚠
- p.Asn377Asp Single submitter ⚠
- p.Asn415Ser Single submitter ⚠
- p.Asn415Thr Single submitter Inborn genetic diseases ⚠
- p.Asn533Asp Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Asn536Asp Single submitter ⚠
- p.Asn539Lys Single submitter ⚠
- p.Asp126His Single submitter
- p.Asp63Gly Single submitter Inborn genetic diseases ⚠
- p.Cys553Tyr Single submitter Inborn genetic diseases
- p.Cys602Ser Single submitter WAC-related disorder
- p.Gln371His Single submitter ⚠
- p.Gln375Arg Single submitter Inborn genetic diseases
- p.Gln431del Single submitter
- p.Gln516Arg Single submitter
- p.Gln545His Single submitter DeSanto-Shinawi syndrome ⚠
- p.Gln624= Single submitter
- p.Gln632His Single submitter ⚠
- p.Gln632Ter Single submitter Inborn genetic diseases
- p.Glu589Gly Single submitter ⚠
- p.Gly143Ala Single submitter ⚠
- p.Gly203Val Single submitter ⚠
- p.Gly284Arg Single submitter Inborn genetic diseases
- p.Gly506Asp Single submitter Inborn genetic diseases ⚠
- p.Gly50Val Single submitter ⚠
- p.His102Asp Single submitter ⚠
- p.His255Asp Single submitter Inborn genetic diseases ⚠
- p.His274Leu Single submitter ⚠
- p.His578Leu Single submitter ⚠
- p.Ile220Leu Single submitter ⚠
- p.Ile353Val Single submitter Inborn genetic diseases ⚠
- p.Ile386Lys Single submitter ⚠
- p.Ile465Val Single submitter ⚠
- p.Ile626Lys Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Ile626Met Single submitter Inborn genetic diseases ⚠
- p.Leu11Phe Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Leu215Met Single submitter Inborn genetic diseases ⚠
- p.Leu330Val Single submitter Inborn genetic diseases ⚠
- p.Leu362His Single submitter ⚠
- p.Leu367Val Single submitter Inborn genetic diseases ⚠
- p.Leu399Pro Single submitter Inborn genetic diseases ⚠
- p.Lys123Gln Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Lys161Glu Single submitter Inborn genetic diseases ⚠
- p.Lys405Glu Single submitter ⚠
- p.Lys45Asn Single submitter Inborn genetic diseases ⚠
- p.Lys503Arg Single submitter Inborn genetic diseases ⚠
- p.Lys581Arg Single submitter Inborn genetic diseases ⚠
- p.Lys79Arg Single submitter Inborn genetic diseases ⚠
- p.Met593Ile Single submitter
- p.Met598Val Single submitter WAC-related disorder ⚠
- p.Met646Ile Single submitter Inborn genetic diseases ⚠
- p.Pro128Leu Single submitter Inborn genetic diseases ⚠
- p.Pro294Ala Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Pro314His Single submitter Inborn genetic diseases ⚠
- p.Pro349Thr Single submitter Inborn genetic diseases ⚠
- p.Pro432Ala Single submitter ⚠
- p.Pro432Leu Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Pro432Thr Single submitter Inborn genetic diseases ⚠
- p.Pro437Leu Single submitter Inborn genetic diseases ⚠
- p.Pro472Leu Single submitter ⚠
- p.Pro483Arg Single submitter ⚠
- p.Pro483Leu Single submitter Inborn genetic diseases ⚠
- p.Pro544= Single submitter
- p.Pro55Ser Single submitter intellectual disability ⚠
- p.Ser101Thr Single submitter Inborn genetic diseases ⚠
- p.Ser105Gly Single submitter ⚠
- p.Ser105Ile Single submitter Inborn genetic diseases ⚠
- p.Ser140Gly Single submitter Inborn genetic diseases ⚠
- p.Ser180Asn Single submitter Inborn genetic diseases ⚠
- p.Ser210Gly Single submitter ⚠
- p.Ser210Thr Single submitter ⚠
- p.Ser265Pro Single submitter Inborn genetic diseases ⚠
- p.Ser286Tyr Single submitter ⚠
- p.Ser308Thr Single submitter Inborn genetic diseases ⚠
- p.Ser325Cys Single submitter ⚠
- p.Ser32Leu Single submitter ⚠
- p.Ser339Pro Single submitter ⚠
- p.Ser346Ala Single submitter Inborn genetic diseases ⚠
- p.Ser37Ile Single submitter Inborn genetic diseases ⚠
- p.Ser384Pro Single submitter Inborn genetic diseases ⚠
- p.Ser433Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser520Cys Single submitter Inborn genetic diseases ⚠
- p.Ser520Gly Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Ser532del Single submitter
- p.Ser548Phe Single submitter ⚠
- p.Ser70Gly Single submitter ⚠
- p.Ser94Thr Single submitter Inborn genetic diseases ⚠
- p.Thr152Ile Single submitter ⚠
- p.Thr259Ala Single submitter Inborn genetic diseases ⚠
- p.Thr259Ser Single submitter Inborn genetic diseases ⚠
- p.Thr269Ser Single submitter Inborn genetic diseases ⚠
- p.Thr320Lys Single submitter ⚠
- p.Thr324Ser Single submitter ⚠
- p.Thr338Ala Single submitter DeSanto-Shinawi syndrome due to WAC point mutation ⚠
- p.Thr408Ser Single submitter ⚠
- p.Thr541Ala Single submitter ⚠
- p.Thr541Pro Single submitter Inborn genetic diseases ⚠
- p.Thr552Met Single submitter Inborn genetic diseases ⚠
- p.Thr603Ile Single submitter ⚠
- p.Thr93Ser Single submitter ⚠
- p.Trp135Gly Single submitter ⚠
- p.Tyr147His Single submitter ⚠
- p.Tyr148= Single submitter intellectual disability
- p.Tyr148del Single submitter
- p.Tyr148Ser Single submitter intellectual disability ⚠
- p.Val389Ile Single submitter ⚠
- p.Val499Ile Single submitter Inborn genetic diseases ⚠
- p.Val614Leu Single submitter Inborn genetic diseases ⚠
- p.Val647Met Single submitter Inborn genetic diseases ⚠
- p.His530Arg No assertion criteria WAC-related disorder ⚠