ACTG1 — 643 ClinVar variants
All ClinVar germline ACTG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →
15 Pathogenic · 10 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 42 Conflicting · 55 Benign · 32 Benign/Likely benign · 279 Likely benign · 177 Uncertain significance
Full ACTG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 159
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACTG1 p.Ile165Val
Likely pathogenic
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Met153Val
Likely pathogenic
Single submitter
autosomal dominant nonsyndromic hearing loss 20
Predictors agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACTG1 p.Ala144Thr
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ala181Val
Conflicting
Single submitter
Inborn genetic diseases
-
ACTG1 p.Ala7Val
Conflicting
Single submitter
ACTG1-related disorder
-
ACTG1 p.Arg206Trp
Conflicting
Single submitter
ACTG1-related disorder
-
ACTG1 p.Arg210His
Conflicting
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Arg335Cys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Glu276Lys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ile165Thr
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Leu346Val
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Met305Thr
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Pro258Leu
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Pro333Arg
Conflicting
Single submitter
ACTG1-related disorder
-
ACTG1 p.Ser338Leu
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Thr277Ile
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Thr66Ile
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
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.
-
ACTG1 p.Ala220Thr
Uncertain significance
Multiple submitters
Baraitser-winter syndrome 2
-
ACTG1 p.Asp311Val
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Asp56Asn
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Gln246Leu
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.His87Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACTG1 p.Ile175Met
Uncertain significance
Multiple submitters
Baraitser-winter syndrome 2
-
ACTG1 p.Leu94Val
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Phe262Leu
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Pro70Ser
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Thr126Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACTG1 p.Thr149Ala
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Thr162Met
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Trp79Arg
Uncertain significance
Multiple submitters
Baraitser-winter syndrome 2
-
ACTG1 p.Val287Met
Uncertain significance
Multiple submitters
Baraitser-winter syndrome 2
- ACTG1 p.Ala108Val Uncertain significance Single submitter
-
ACTG1 p.Ala131Asp
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ala170Gly
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ala174Gly
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ala174Thr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Ala181Ser Uncertain significance Single submitter
-
ACTG1 p.Ala19Val
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ala230Asp
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ala230Thr
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ala29Thr
Uncertain significance
Single submitter
ACTG1-related disorder
-
ACTG1 p.Ala29Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTG1 p.Ala331Thr Uncertain significance Single submitter
- ACTG1 p.Arg28Gly Uncertain significance Single submitter
-
ACTG1 p.Arg372Ser
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Arg95Cys
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Asp11Gly Uncertain significance Single submitter
- ACTG1 p.Asp222Gly Uncertain significance Single submitter
-
ACTG1 p.Asp81Gly
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Cys285Arg Uncertain significance Single submitter
-
ACTG1 p.Cys285Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTG1 p.Cys374Ser Uncertain significance Single submitter
-
ACTG1 p.Cys374Tyr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Gln137Glu Uncertain significance Single submitter
-
ACTG1 p.Gln314Arg
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Gln59Arg
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Gln59His
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Glu107Lys Uncertain significance Single submitter
-
ACTG1 p.Glu117Lys
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Glu195Lys
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Glu207Asp
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Glu2Val
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Glu316Lys
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Glu334Gln
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Gly23Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTG1 p.Gly245Ser Uncertain significance Single submitter
-
ACTG1 p.Gly273Ser
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Gly42Ser
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Gly46Cys Uncertain significance Single submitter
-
ACTG1 p.His275Tyr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.His73Asp
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.His87Leu
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ile289Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTG1 p.Ile71Met Uncertain significance Single submitter
-
ACTG1 p.Leu104Gln
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Leu193Phe Uncertain significance Single submitter
- ACTG1 p.Lys113Thr Uncertain significance Single submitter
- ACTG1 p.Lys291Glu Uncertain significance Single submitter
-
ACTG1 p.Lys315Glu
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Lys84Glu
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Met132Thr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Met153Thr
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Met190Thr Uncertain significance Single submitter
-
ACTG1 p.Met269Ile
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Met305Val Uncertain significance Single submitter
-
ACTG1 p.Met355Arg
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Met47Val Uncertain significance Single submitter
-
ACTG1 p.Met82Val
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Phe223Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTG1 p.Phe255Leu
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Phe31Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTG1 p.Phe90Leu Uncertain significance Single submitter
-
ACTG1 p.Phe90Ser
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Pro109Ser Uncertain significance Single submitter
-
ACTG1 p.Pro130Gln
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Pro172Leu
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Pro264Ser Uncertain significance Single submitter
- ACTG1 p.Pro32Leu Uncertain significance Single submitter
-
ACTG1 p.Ser145Cys
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ser232Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTG1 p.Ser233Phe
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ser234Phe
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ser300Ala
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ser350Phe
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ser368Phe
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Thr120Ser Uncertain significance Single submitter
-
ACTG1 p.Thr126Ala
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Thr194Pro
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Thr304Ala Uncertain significance Single submitter
-
ACTG1 p.Thr324Ile
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Thr351Ala Uncertain significance Single submitter
- ACTG1 p.Thr351Pro Uncertain significance Single submitter
-
ACTG1 p.Tyr188His
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Tyr240His Uncertain significance Single submitter
- ACTG1 p.Val163Ala Uncertain significance Single submitter
-
ACTG1 p.Val54Met
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ala22Val
Uncertain significance
No assertion criteria
ACTG1-related disorder
-
ACTG1 p.Asp179Tyr
Uncertain significance
No assertion criteria
lissencephaly spectrum disorders
-
ACTG1 p.Glu316Asp
Uncertain significance
No assertion criteria
ACTG1-related disorder
-
ACTG1 p.Ile5Val
Uncertain significance
No assertion criteria
ACTG1-related disorder
Predictors split 39
The independent predictors disagree with each other — read with care.
-
ACTG1 p.Ala174Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACTG1 p.Ala231Val
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ile192Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACTG1 p.Ile212Val
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Lys291Arg
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Met269Val
Uncertain significance
Multiple submitters
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Met283Val
Likely pathogenic
Multiple submitters
Monogenic hearing loss
-
ACTG1 p.Val219Ile
Uncertain significance
Multiple submitters
Baraitser-winter syndrome 2
-
ACTG1 p.Ala114Val
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Ala231Thr
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ala295Thr
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ala319Thr
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Ala347Ser Uncertain significance Single submitter
-
ACTG1 p.Asn280Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTG1 p.Gln121Glu
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTG1 p.Gln225Arg
Uncertain significance
Single submitter
ACTG1-related disorder
- ACTG1 p.Gln314Glu Uncertain significance Single submitter
-
ACTG1 p.Glu276Asp
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Glu2Gly
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Gly366Asp
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Ile248Val Uncertain significance Single submitter
-
ACTG1 p.Ile369Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTG1 p.Leu176Val Likely benign Single submitter
-
ACTG1 p.Leu221Val
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Leu261Val
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Lys328Arg
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Lys50Arg Uncertain significance Single submitter
-
ACTG1 p.Met16Leu
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
- ACTG1 p.Pro307Leu Uncertain significance Single submitter
-
ACTG1 p.Ser145Ala
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
-
ACTG1 p.Ser281Cys
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Thr162Ala
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Thr229Ala Uncertain significance Single submitter
-
ACTG1 p.Thr278Ile
Conflicting
Single submitter
autosomal dominant nonsyndromic hearing loss 20
-
ACTG1 p.Thr297Ala
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Thr297Met Uncertain significance Single submitter
-
ACTG1 p.Thr318Ser
Uncertain significance
Single submitter
Baraitser-winter syndrome 2
- ACTG1 p.Thr77Ala Uncertain significance Single submitter
-
ACTG1 p.Thr77Ser
Uncertain significance
Single submitter
autosomal dominant nonsyndromic hearing loss 20
All ACTG1 variants
Pathogenic 15
- p.Arg183Gln Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg210Cys Multiple submitters Baraitser-winter syndrome 2
- p.Pro264Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Pro70Leu Multiple submitters Baraitser-winter syndrome 2
- p.Ser155Phe Multiple submitters Baraitser-winter syndrome 2
- p.Ala26Gly Single submitter
- p.Arg256Gln Single submitter
- p.Arg256Trp Single submitter Baraitser-winter syndrome 2
- p.Arg335Leu Single submitter
- p.Glu93Lys Single submitter
- p.Pro332Ala Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ser338Trp Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Lys118Asn No assertion criteria autosomal dominant nonsyndromic hearing loss 20
- p.Thr203Lys No assertion criteria Baraitser-winter syndrome 2
- p.Val370Ala No assertion criteria autosomal dominant nonsyndromic hearing loss 20
Pathogenic/Likely pathogenic 10
- p.Ala135Val Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg183Trp Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg206Gln Multiple submitters Baraitser-winter syndrome 2
- p.Arg254Trp Multiple submitters Baraitser-winter syndrome 2
- p.Arg335His Multiple submitters Inborn genetic diseases
- p.Asp51Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Glu241Lys Multiple submitters Rare genetic deafness
- p.Lys118Met Multiple submitters nonsyndromic genetic hearing loss
- p.Pro32Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr120Ile Multiple submitters Baraitser-winter syndrome 2
Likely pathogenic 33
- p.Ala204Gly Multiple submitters Baraitser-winter syndrome 2
- p.Met283Thr Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Met283Val Multiple submitters Monogenic hearing loss ⚠
- p.Pro243Leu Multiple submitters Baraitser-winter syndrome 2
- p.Ala144Val Single submitter Baraitser-winter syndrome 2
- p.Ala230Val Single submitter
- p.Ala26Val Single submitter
- p.Arg147Cys Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Arg147His Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Arg254_Ala260dup Single submitter
- p.Arg290Cys Single submitter
- p.Asn252Ile Single submitter
- p.Asp288Gly Single submitter
- p.Glu334Asp Single submitter Rare genetic deafness
- p.Gly15Arg Single submitter
- p.Gly63Ala Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.His275Leu Single submitter
- p.His40Tyr Single submitter Baraitser-winter syndrome 2
- p.Ile165Asn Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ile165Val Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Leu142Val Single submitter
- p.Lys213Gln Single submitter
- p.Lys238_Ser239delinsAsn Single submitter Baraitser-winter syndrome 2
- p.Met153Ile Single submitter Baraitser-winter syndrome 2
- p.Met153Val Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met44Lys Single submitter
- p.Phe200Ile Single submitter Baraitser-winter syndrome 2
- p.Pro32His Single submitter Baraitser-winter syndrome 2
- p.Ser145Phe Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr148Ala Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr203Met Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr89Ile Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Tyr69Cys Single submitter Inborn genetic diseases
Conflicting classifications of pathogenicity 42
- c.123+8G>A Single submitter Baraitser-winter syndrome 2
- c.124-16G>A Single submitter Baraitser-winter syndrome 2
- c.124-6C>T Single submitter Inborn genetic diseases
- c.124-9C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.803-3T>C Single submitter Baraitser-winter syndrome 2
- c.-6-13C>T Single submitter
- c.*18G>A Single submitter
- p.Ala144Thr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ala181Val Single submitter Inborn genetic diseases ⚠
- p.Ala7Val Single submitter ACTG1-related disorder ⚠
- p.Arg206Trp Single submitter ACTG1-related disorder ⚠
- p.Arg210= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Arg210His Single submitter Baraitser-winter syndrome 2 ⚠
- p.Arg335Cys Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Asp187= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gln41= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Glu214= Single submitter Baraitser-winter syndrome 2
- p.Glu276Lys Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Gly15= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly46= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.His173= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.His275= Single submitter Baraitser-winter syndrome 2
- p.Ile165Thr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ile64= Single submitter Baraitser-winter syndrome 2
- p.Leu320= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu346Val Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Lys215= Single submitter Baraitser-winter syndrome 2
- p.Lys328Arg Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met305Thr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Pro109= Single submitter
- p.Pro258Leu Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Pro333Arg Single submitter ACTG1-related disorder ⚠
- p.Ser281Cys Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ser338Leu Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ser350= Single submitter Baraitser-winter syndrome 2
- p.Ser365= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr277Ile Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Thr278Ile Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Thr66Ile Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Thr77= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Val139= Single submitter Baraitser-winter syndrome 2
- p.Val76= Single submitter autosomal dominant nonsyndromic hearing loss 20
Benign 55
- c.124-14G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.124-8C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.363+115C>A Multiple submitters
- c.363+13C>A Multiple submitters Baraitser-winter syndrome 2
- c.363+58G>A Multiple submitters Baraitser-winter syndrome 2
- c.363+59G>T Multiple submitters
- c.364-113C>T Multiple submitters
- c.364-9C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.802+33A>T Multiple submitters
- c.802+37C>T Multiple submitters
- c.985-32T>C Multiple submitters
- c.985-40del Multiple submitters Baraitser-winter syndrome 2
- c.-55G>A Multiple submitters Baraitser-winter syndrome 2
- c.-6-26G>A Multiple submitters
- c.-6-83T>G Multiple submitters Baraitser-winter syndrome 2
- c.*192G>C Multiple submitters
- c.*284A>G Multiple submitters
- p.Ala204= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ala231= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg290= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Gln59= Multiple submitters Baraitser-winter syndrome 2
- p.Gly245= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Gly342= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Pro243= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ser338= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ter376= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Tyr133= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Tyr306= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.124-6dup Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+124C>T Single submitter
- c.363+31C>G Single submitter
- c.363+52C>T Single submitter
- c.363+56C>T Single submitter
- c.363+60C>T Single submitter
- c.364-99C>T Single submitter
- c.802+22T>A Single submitter
- c.802+34C>A Single submitter
- c.985-38G>A Single submitter
- c.-24C>T Single submitter
- c.-31G>C Single submitter
- c.-39C>T Single submitter
- c.-47A>G Single submitter
- c.-6-14C>T Single submitter
- c.-6-31C>G Single submitter
- c.-6-31C>T Single submitter
- c.-6-33C>T Single submitter
- c.-6-37C>T Single submitter
- c.-7+36G>A Single submitter
- c.*126C>G Single submitter
- c.*128T>G Single submitter
- c.*143G>C Single submitter
- c.*146A>G Single submitter
- c.*199A>T Single submitter
- c.*2C>T Single submitter
- c.*32A>G Single submitter
Benign/Likely benign 32
- c.363+5G>A Multiple submitters Baraitser-winter syndrome 2
- c.363+7C>G Multiple submitters Baraitser-winter syndrome 2
- c.364-10C>T Multiple submitters Baraitser-winter syndrome 2
- c.803-6C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.985-5T>C Multiple submitters Baraitser-winter syndrome 2
- c.-6-3C>T Multiple submitters Baraitser-winter syndrome 2
- p.Ala138= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ala228= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ala6= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg177= Multiple submitters Baraitser-winter syndrome 2
- p.Asn115= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Asp157= Multiple submitters Baraitser-winter syndrome 2
- p.Asp24= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Cys17= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Gly13= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Gly182= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Gly343= Multiple submitters Baraitser-winter syndrome 2
- p.Gly42= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.His371= Multiple submitters Baraitser-winter syndrome 2
- p.Ile5= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Leu105= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Lys238= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Lys326= Multiple submitters Baraitser-winter syndrome 2
- p.Pro258= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Pro27= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr162= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr303= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr318= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Tyr188= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Tyr53= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Val287= Multiple submitters Baraitser-winter syndrome 2
- p.Val339= Multiple submitters Baraitser-winter syndrome 2
Likely benign 279
- c.124-17C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.124-19G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.124-4G>C Multiple submitters Baraitser-winter syndrome 2
- c.363+123C>A Multiple submitters
- c.363+127C>T Multiple submitters
- c.364-13T>C Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.364-19G>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.364-20C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.364-8C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.802+20G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.803-13C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.803-20G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.803-4C>T Multiple submitters Baraitser-winter syndrome 2
- c.803-7C>T Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.984+12G>A Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.984+7C>T Multiple submitters Baraitser-winter syndrome 2
- c.985-5dup Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.-7+135C>T Multiple submitters
- c.*112C>T Multiple submitters
- c.*134C>T Multiple submitters
- c.*259C>T Multiple submitters
- p.Ala131= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ala144= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ala230= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ala319= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ala321= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg206= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg312= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Arg95= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Asn296= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Asn78= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Asp222= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Asp286= Multiple submitters Baraitser-winter syndrome 2
- p.Asp363= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Asp56= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Cys272= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Glu117= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Glu276= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Gly308= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Gly55= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ile192= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ile208= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ile212= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ile341= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ile369= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ile85= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Leu104= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Leu178= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Leu267= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Leu293= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Leu346= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Lys315= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Lys50= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Phe223= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Pro130= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Pro332= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Pro70= Multiple submitters Baraitser-winter syndrome 2
- p.Pro98= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ser232= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Ser60= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr106= Multiple submitters Baraitser-winter syndrome 2
- p.Thr126= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr201= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr203= Multiple submitters Baraitser-winter syndrome 2
- p.Thr89= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Tyr143= Multiple submitters Inborn genetic diseases
- p.Tyr166= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Tyr218= Multiple submitters Baraitser-winter syndrome 2
- p.Tyr240= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Tyr362= Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- c.123+15C>T Single submitter Baraitser-winter syndrome 2
- c.123+16C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.123+18C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.123+7G>A Single submitter Baraitser-winter syndrome 2
- c.124-20_124-16dup Single submitter Baraitser-winter syndrome 2
- c.124-20_124-19dup Single submitter Baraitser-winter syndrome 2
- c.124-7C>T Single submitter
- c.124-9C>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+10G>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+111C>T Single submitter
- c.363+11G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+11G>C Single submitter Baraitser-winter syndrome 2
- c.363+12_363+13delinsAA Single submitter
- c.363+16C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+17G>A Single submitter Baraitser-winter syndrome 2
- c.363+19C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+20C>G Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+20C>T Single submitter Baraitser-winter syndrome 2
- c.363+72C>T Single submitter
- c.363+7C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+9C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.364-116C>G Single submitter
- c.364-12G>A Single submitter
- c.364-15C>G Single submitter Baraitser-winter syndrome 2
- c.364-15C>T Single submitter Baraitser-winter syndrome 2
- c.364-16C>G Single submitter Baraitser-winter syndrome 2
- c.364-16C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.364-17C>G Single submitter Baraitser-winter syndrome 2
- c.364-17C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.364-18C>T Single submitter Baraitser-winter syndrome 2
- c.364-19G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.364-19G>C Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.364-9_364-3dup Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.802+10G>A Single submitter Baraitser-winter syndrome 2
- c.802+15C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.802+7G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.802+8T>G Single submitter Baraitser-winter syndrome 2
- c.803-10T>C Single submitter Baraitser-winter syndrome 2
- c.803-11C>T Single submitter Baraitser-winter syndrome 2
- c.803-15G>T Single submitter
- c.803-18del Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.803-19G>A Single submitter Baraitser-winter syndrome 2
- c.803-20G>C Single submitter Baraitser-winter syndrome 2
- c.803-29C>T Single submitter
- c.803-4C>G Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.803-5C>T Single submitter Baraitser-winter syndrome 2
- c.803-9G>A Single submitter Baraitser-winter syndrome 2
- c.984+12G>C Single submitter
- c.984+13dup Single submitter
- c.984+13G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.984+13G>C Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.984+17G>C Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.984+18_984+20del Single submitter Baraitser-winter syndrome 2
- c.984+19G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.984+19G>C Single submitter Baraitser-winter syndrome 2
- c.984+20G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.984+7C>G Single submitter Baraitser-winter syndrome 2
- c.984+8G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.985-10G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.985-10G>C Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.985-11T>C Single submitter
- c.985-16C>T Single submitter Baraitser-winter syndrome 2
- c.985-17C>T Single submitter Baraitser-winter syndrome 2
- c.985-18G>A Single submitter Baraitser-winter syndrome 2
- c.985-20G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.985-25_985-10dup Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.985-5T>G Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.-23G>A Single submitter
- c.-26G>A Single submitter
- c.-27C>T Single submitter
- c.-28C>T Single submitter
- c.-32C>T Single submitter
- c.-42G>A Single submitter
- c.-43T>A Single submitter
- c.-46C>T Single submitter
- c.-48C>A Single submitter
- c.-50C>T Single submitter
- c.-5T>C Single submitter
- c.-6-14C>G Single submitter
- c.-6-16A>G Single submitter
- c.-6-7C>T Single submitter
- c.-7+37C>T Single submitter
- c.*130G>A Single submitter
- c.*194A>C Single submitter
- c.*227C>T Single submitter
- c.*6C>G Single submitter
- p.Ala108= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ala114= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ala135= Single submitter
- p.Ala170= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ala174= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ala220= Single submitter Baraitser-winter syndrome 2
- p.Ala260= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ala29= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ala310= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ala347= Single submitter Baraitser-winter syndrome 2
- p.Ala58= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Arg116= Single submitter Baraitser-winter syndrome 2
- p.Arg256= Single submitter
- p.Asn111= Single submitter
- p.Asn12= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Asn252= Single submitter Baraitser-winter syndrome 2
- p.Asn280= Single submitter Baraitser-winter syndrome 2
- p.Asn92= Single submitter Baraitser-winter syndrome 2
- p.Asp179= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Asp288= Single submitter Baraitser-winter syndrome 2
- p.Asp292= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Asp311= Single submitter Baraitser-winter syndrome 2
- p.Asp51= Single submitter Baraitser-winter syndrome 2
- p.Asp80= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Asp81= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Cys257= Single submitter Baraitser-winter syndrome 2
- p.Cys285= Single submitter Baraitser-winter syndrome 2
- p.Cys374= Single submitter Baraitser-winter syndrome 2
- p.Gln225= Single submitter Baraitser-winter syndrome 2
- p.Glu100= Single submitter Baraitser-winter syndrome 2
- p.Glu125= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Glu195= Single submitter Baraitser-winter syndrome 2
- p.Glu224= Single submitter Baraitser-winter syndrome 2
- p.Glu241= Single submitter Baraitser-winter syndrome 2
- p.Glu253= Single submitter Baraitser-winter syndrome 2
- p.Glu270= Single submitter Baraitser-winter syndrome 2
- p.Glu3= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Glu93= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Glu99= Single submitter
- p.Gly150= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly158= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly197= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly268= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly273= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly301= Single submitter Baraitser-winter syndrome 2
- p.Gly302= Single submitter Baraitser-winter syndrome 2
- p.Gly366= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly63= Single submitter Baraitser-winter syndrome 2
- p.Gly74= Single submitter Baraitser-winter syndrome 2
- p.His161= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.His73= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.His87= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.His88= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ile122= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ile151= Single submitter Baraitser-winter syndrome 2
- p.Ile175= Single submitter Baraitser-winter syndrome 2
- p.Ile282= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ile317= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ile327= Single submitter Baraitser-winter syndrome 2
- p.Ile330= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu140= Single submitter Baraitser-winter syndrome 2
- p.Leu142= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu171= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu176= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu176Val Single submitter ⚠
- p.Leu185= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu189= Single submitter Baraitser-winter syndrome 2
- p.Leu216= Single submitter
- p.Leu236= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu242= Single submitter Baraitser-winter syndrome 2
- p.Leu299= Single submitter
- p.Leu67= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Leu8= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Lys113= Single submitter Baraitser-winter syndrome 2
- p.Lys284= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Lys336= Single submitter Baraitser-winter syndrome 2
- p.Lys359= Single submitter Baraitser-winter syndrome 2
- p.Lys373= Single submitter
- p.Lys84= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Phe200= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Phe279= Single submitter Baraitser-winter syndrome 2
- p.Phe352= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Phe90= Single submitter Baraitser-winter syndrome 2
- p.Pro112= Single submitter Baraitser-winter syndrome 2
- p.Pro164= Single submitter
- p.Pro264= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Pro307= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Pro322= Single submitter Baraitser-winter syndrome 2
- p.Pro367= Single submitter Baraitser-winter syndrome 2
- p.Pro38= Single submitter Baraitser-winter syndrome 2
- p.Ser141= Single submitter Baraitser-winter syndrome 2
- p.Ser233= Single submitter Baraitser-winter syndrome 2
- p.Ser234= Single submitter
- p.Ser265= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ser271= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ser300= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ser33= Single submitter Baraitser-winter syndrome 2
- p.Ser348= Single submitter Baraitser-winter syndrome 2
- p.Ser368= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Ser52= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr120= Single submitter
- p.Thr129= Single submitter Baraitser-winter syndrome 2
- p.Thr148= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr149= Single submitter Baraitser-winter syndrome 2
- p.Thr186= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr229= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr249= Single submitter Baraitser-winter syndrome 2
- p.Thr277= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr278= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Thr304= Single submitter Baraitser-winter syndrome 2
- p.Thr351= Single submitter Baraitser-winter syndrome 2
- p.Thr66= Single submitter Baraitser-winter syndrome 2
- p.Tyr169= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Tyr294= Single submitter Baraitser-winter syndrome 2
- p.Val152= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Val163= Single submitter Baraitser-winter syndrome 2
- p.Val209= Single submitter Baraitser-winter syndrome 2
- p.Val219= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Val370= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Val43Ala Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.123+8G>C No assertion criteria ACTG1-related disorder
- c.985-8C>T No assertion criteria ACTG1-related disorder
- p.Glu205= No assertion criteria ACTG1-related disorder
Uncertain significance 177
- c.-1A>G Multiple submitters
- p.Ala174Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala220Thr Multiple submitters Baraitser-winter syndrome 2 ⚠
- p.Ala231Val Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Asp311Val Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Asp56Asn Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Gln246Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Gln263Ter Multiple submitters Baraitser-winter syndrome 2
- p.Glu117fs Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.His87Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile175Met Multiple submitters Baraitser-winter syndrome 2 ⚠
- p.Ile192Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile212Val Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Leu142fs Multiple submitters
- p.Leu94Val Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Lys291Arg Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met269Val Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Phe262Leu Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Pro70Ser Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ser235del Multiple submitters autosomal dominant nonsyndromic hearing loss 20
- p.Thr126Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr149Ala Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Thr162Met Multiple submitters autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Trp79Arg Multiple submitters Baraitser-winter syndrome 2 ⚠
- p.Val219Ile Multiple submitters Baraitser-winter syndrome 2 ⚠
- p.Val287Met Multiple submitters Baraitser-winter syndrome 2 ⚠
- c.123+5G>C Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.124-3C>T Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+12_363+13delinsGA Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.363+4A>C Single submitter Baraitser-winter syndrome 2
- c.363+6G>A Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.364-12G>T Single submitter Baraitser-winter syndrome 2
- c.364-1G>A Single submitter Baraitser-winter syndrome 2
- c.364-3C>G Single submitter autosomal dominant nonsyndromic hearing loss 20
- c.802+3A>G Single submitter
- c.985-9T>G Single submitter ACTG1-related disorder
- c.-2C>G Single submitter
- c.-6-1G>T Single submitter
- c.-6-9del Single submitter
- c.*11C>T Single submitter
- p.Ala108Val Single submitter ⚠
- p.Ala114Val Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ala131Asp Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ala170Gly Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ala174Gly Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ala174Thr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ala181Ser Single submitter ⚠
- p.Ala19Val Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ala230Asp Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ala230Thr Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ala231Thr Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ala295Thr Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ala29Thr Single submitter ACTG1-related disorder ⚠
- p.Ala29Val Single submitter Inborn genetic diseases ⚠
- p.Ala319Thr Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ala331Thr Single submitter ⚠
- p.Ala347Ser Single submitter ⚠
- p.Arg116fs Single submitter Baraitser-winter syndrome 2
- p.Arg28Gly Single submitter ⚠
- p.Arg28Ter Single submitter Baraitser-winter syndrome 2
- p.Arg372Ser Single submitter Baraitser-winter syndrome 2 ⚠
- p.Arg95Cys Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Asn280Ser Single submitter Inborn genetic diseases ⚠
- p.Asp11Gly Single submitter ⚠
- p.Asp222Gly Single submitter ⚠
- p.Asp363del Single submitter
- p.Asp81Gly Single submitter Baraitser-winter syndrome 2 ⚠
- p.Cys285Arg Single submitter ⚠
- p.Cys285Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys374Ser Single submitter ⚠
- p.Cys374Tyr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Gln121= Single submitter Inborn genetic diseases
- p.Gln121Glu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gln137Glu Single submitter ⚠
- p.Gln225Arg Single submitter ACTG1-related disorder ⚠
- p.Gln314Arg Single submitter Baraitser-winter syndrome 2 ⚠
- p.Gln314Glu Single submitter ⚠
- p.Gln354Ter Single submitter Baraitser-winter syndrome 2
- p.Gln59Arg Single submitter Baraitser-winter syndrome 2 ⚠
- p.Gln59His Single submitter Baraitser-winter syndrome 2 ⚠
- p.Glu107Lys Single submitter ⚠
- p.Glu117Lys Single submitter Baraitser-winter syndrome 2 ⚠
- p.Glu195Lys Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Glu207Asp Single submitter Baraitser-winter syndrome 2 ⚠
- p.Glu224Ter Single submitter
- p.Glu276Asp Single submitter Baraitser-winter syndrome 2 ⚠
- p.Glu2Gly Single submitter Baraitser-winter syndrome 2 ⚠
- p.Glu2Val Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Glu316Lys Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Glu334Gln Single submitter Baraitser-winter syndrome 2 ⚠
- p.Glu83= Single submitter
- p.Gly20fs Single submitter
- p.Gly23Arg Single submitter Inborn genetic diseases ⚠
- p.Gly245Ser Single submitter ⚠
- p.Gly251= Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Gly273Ser Single submitter Baraitser-winter syndrome 2 ⚠
- p.Gly366Asp Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Gly42Ser Single submitter Baraitser-winter syndrome 2 ⚠
- p.Gly46Cys Single submitter ⚠
- p.His275Tyr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.His73Asp Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.His87Leu Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ile165= Single submitter
- p.Ile248Val Single submitter ⚠
- p.Ile282fs Single submitter
- p.Ile289Ser Single submitter Inborn genetic diseases ⚠
- p.Ile329= Single submitter Baraitser-winter syndrome 2
- p.Ile369Val Single submitter Inborn genetic diseases ⚠
- p.Ile71Met Single submitter ⚠
- p.Leu104Gln Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Leu193Phe Single submitter ⚠
- p.Leu221Val Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Leu261Val Single submitter Baraitser-winter syndrome 2 ⚠
- p.Leu65= Single submitter
- p.Lys113Thr Single submitter ⚠
- p.Lys291Glu Single submitter ⚠
- p.Lys315Glu Single submitter Baraitser-winter syndrome 2 ⚠
- p.Lys50Arg Single submitter ⚠
- p.Lys84Glu Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met123fs Single submitter autosomal dominant nonsyndromic hearing loss 20
- p.Met132Thr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met153Thr Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met16Leu Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met190Thr Single submitter ⚠
- p.Met269Ile Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met305Val Single submitter ⚠
- p.Met355Arg Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Met47_Gly48insValGlyMet Single submitter
- p.Met47Val Single submitter ⚠
- p.Met82Val Single submitter Baraitser-winter syndrome 2 ⚠
- p.Phe200fs Single submitter
- p.Phe223Leu Single submitter Inborn genetic diseases ⚠
- p.Phe255Leu Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Phe31Val Single submitter Inborn genetic diseases ⚠
- p.Phe90Leu Single submitter ⚠
- p.Phe90Ser Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Pro109Ser Single submitter ⚠
- p.Pro130Gln Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Pro172Leu Single submitter Baraitser-winter syndrome 2 ⚠
- p.Pro264Ser Single submitter ⚠
- p.Pro307Leu Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Ser145Ala Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ser145Cys Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ser232Phe Single submitter Inborn genetic diseases ⚠
- p.Ser233Phe Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ser234Phe Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ser300Ala Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Ser350Phe Single submitter Baraitser-winter syndrome 2 ⚠
- p.Ser368Phe Single submitter Baraitser-winter syndrome 2 ⚠
- p.Thr120Ser Single submitter ⚠
- p.Thr126Ala Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Thr162Ala Single submitter Baraitser-winter syndrome 2 ⚠
- p.Thr194Pro Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Thr202fs Single submitter Baraitser-winter syndrome 2
- p.Thr229Ala Single submitter ⚠
- p.Thr297Ala Single submitter Baraitser-winter syndrome 2 ⚠
- p.Thr297Met Single submitter ⚠
- p.Thr304Ala Single submitter ⚠
- p.Thr318Ser Single submitter Baraitser-winter syndrome 2 ⚠
- p.Thr324Ile Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Thr351Ala Single submitter ⚠
- p.Thr351Pro Single submitter ⚠
- p.Thr77Ala Single submitter ⚠
- p.Thr77Ser Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Trp79Ter Single submitter
- p.Tyr188His Single submitter Baraitser-winter syndrome 2 ⚠
- p.Tyr240His Single submitter ⚠
- p.Tyr306_Pro307= Single submitter Baraitser-winter syndrome 2
- p.Val163Ala Single submitter ⚠
- p.Val54Met Single submitter autosomal dominant nonsyndromic hearing loss 20 ⚠
- p.Val9= Single submitter Baraitser-winter syndrome 2
- p.Ala22Val No assertion criteria ACTG1-related disorder ⚠
- p.Arg196Ter No assertion criteria ACTG1-related disorder
- p.Asp179Tyr No assertion criteria lissencephaly spectrum disorders ⚠
- p.Glu316Asp No assertion criteria ACTG1-related disorder ⚠
- p.Ile5Val No assertion criteria ACTG1-related disorder ⚠