ACTB — 626 ClinVar variants
All ClinVar germline ACTB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 148 flagged for review →
47 Pathogenic · 12 Pathogenic/Likely pathogenic · 76 Likely pathogenic · 25 Conflicting · 33 Benign · 13 Benign/Likely benign · 259 Likely benign · 161 Uncertain significance
Full ACTB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 148
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ACTB p.Val219Ile
Likely pathogenic
Single submitter
neurodevelopmental disorder
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ACTB p.Arg183Gln
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Arg28Gln
Conflicting
Single submitter
ACTB-related disorder
-
ACTB p.Arg28Gly
Conflicting
Single submitter
ACTB-related BAFopathy
-
ACTB p.Glu241Lys
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Gly245Ser
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Gly42Ser
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Gly48Asp
Conflicting
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Ile192Asn Conflicting Single submitter
-
ACTB p.Leu65Phe
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Pro164Ser
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Pro32Ser
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Pro70Leu
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Trp356Arg
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Val103Leu
Conflicting
Single submitter
Baraitser-Winter cerebrofrontofacial syndrome
-
ACTB p.Val152Met
Conflicting
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Glu364Lys
Conflicting
No assertion criteria
ACTB-associated syndromic thrombocytopenia
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.
-
ACTB p.Asp187fs
Conflicting
Single submitter
Baraitser-Winter syndrome 1
Predictors lean, ClinVar uncertain 97
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTB p.Arg372Cys Uncertain significance Multiple submitters
-
ACTB p.Arg372His
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
-
ACTB p.Asp179Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACTB p.Asp2Val
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
-
ACTB p.Glu57Lys
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
-
ACTB p.His101Tyr
Uncertain significance
Multiple submitters
ACTB-related disorder
-
ACTB p.His371Tyr
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
-
ACTB p.Lys84Glu
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
- ACTB p.Ala108Val Uncertain significance Single submitter
- ACTB p.Ala220Val Uncertain significance Single submitter
-
ACTB p.Ala22Val
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ala26Pro
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ala58Val
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ala7Val
Uncertain significance
Single submitter
ACTB-related BAFopathy
-
ACTB p.Arg147His
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Arg312Gly Uncertain significance Single submitter
-
ACTB p.Arg335Pro
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Asn252Asp Uncertain significance Single submitter
-
ACTB p.Asn296Asp
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Asn92Ser
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Asp179His Uncertain significance Single submitter
-
ACTB p.Asp184Ala
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Asp187Glu Uncertain significance Single submitter
- ACTB p.Asp292Asn Uncertain significance Single submitter
-
ACTB p.Asp292Glu
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Asp311Asn Uncertain significance Single submitter
- ACTB p.Asp3His Uncertain significance Single submitter
-
ACTB p.Asp80Glu
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Cys257Tyr Uncertain significance Single submitter
- ACTB p.Cys374Tyr Uncertain significance Single submitter
- ACTB p.Gln263Pro Uncertain significance Single submitter
-
ACTB p.Gln353Pro
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Glu125Lys
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Glu195Gln
Uncertain significance
Single submitter
ACTB-associated syndromic thrombocytopenia
- ACTB p.Glu224Gln Uncertain significance Single submitter
-
ACTB p.Glu224Lys
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Glu270Asp Uncertain significance Single submitter
-
ACTB p.Glu276Asp
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Glu57Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTB p.Glu83Asp
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Glu93Gln Uncertain significance Single submitter
-
ACTB p.Gly15Ala
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Gly20Asp
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Gly23Asp
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Gly343Asp Uncertain significance Single submitter
-
ACTB p.Gly343Ser
Uncertain significance
Single submitter
ACTB-related disorder
-
ACTB p.Gly366Ser
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Gly42Ala
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Gly46Arg
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.His275Gln Uncertain significance Single submitter
-
ACTB p.His40Gln
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.His87Tyr Uncertain significance Single submitter
-
ACTB p.Ile136Leu
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ile309Phe
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ile327Met
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Ile341Leu Uncertain significance Single submitter
- ACTB p.Ile71Met Uncertain significance Single submitter
-
ACTB p.Ile75Met
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Ile85Thr Uncertain significance Single submitter
-
ACTB p.Leu110Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTB p.Lys215Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTB p.Met123Ile
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Met153Arg
Uncertain significance
Single submitter
thrombocytopenia
-
ACTB p.Met283Thr
Uncertain significance
Single submitter
Becker nevus syndrome
- ACTB p.Met305Thr Uncertain significance Single submitter
-
ACTB p.Met355Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ACTB p.Met44Ile
Uncertain significance
Single submitter
ACTB-associated syndromic thrombocytopenia
- ACTB p.Met47Thr Uncertain significance Single submitter
- ACTB p.Met82Ile Uncertain significance Single submitter
- ACTB p.Phe223Ser Uncertain significance Single submitter
-
ACTB p.Phe262Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTB p.Pro130Arg Uncertain significance Single submitter
- ACTB p.Pro130Leu Uncertain significance Single submitter
-
ACTB p.Pro172Arg
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Pro243Leu
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Pro258Ala
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Pro367Leu Uncertain significance Single submitter
- ACTB p.Ser141Cys Uncertain significance Single submitter
-
ACTB p.Ser271Phe
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ser300Pro
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Ser52Phe Uncertain significance Single submitter
- ACTB p.Thr120Ser Uncertain significance Single submitter
-
ACTB p.Thr249Ser
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Tyr166Cys
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Tyr294Asp
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Tyr362Cys Uncertain significance Single submitter
-
ACTB p.Tyr69His
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Val103Met Uncertain significance Single submitter
-
ACTB p.Val219Leu
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Val247Phe Uncertain significance Single submitter
-
ACTB p.Val287Ala
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Val298Met Uncertain significance Single submitter
-
ACTB p.Val370Gly
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Val96Leu
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Asp222Glu
Uncertain significance
No assertion criteria
ACTB-related disorder
- ACTB p.Glu361Lys Uncertain significance No assertion criteria
-
ACTB p.Pro70His
Uncertain significance
No assertion criteria
Baraitser-Winter syndrome 1
Predictors split 33
The independent predictors disagree with each other — read with care.
-
ACTB p.Asn280Thr
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
-
ACTB p.Thr229Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ACTB p.Thr297Ile
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
-
ACTB p.Val134Ile
Uncertain significance
Multiple submitters
Baraitser-Winter syndrome 1
-
ACTB p.Ala319Ser
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ala319Thr
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Asn128Thr
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Asn12Ser
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Asn252Ser Uncertain significance Single submitter
-
ACTB p.Asn296Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTB p.Gln225Glu Uncertain significance Single submitter
-
ACTB p.Ile136Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ACTB p.Ile212Val Uncertain significance Single submitter
-
ACTB p.Ile274Val
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ile282Val
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ile289Val
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ile309Met
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Leu185Val Uncertain significance Single submitter
-
ACTB p.Leu8Val
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Lys336Arg
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Pro307Ser
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Ser265Ala
Uncertain significance
Single submitter
dystonic disorder
- ACTB p.Ser265Thr Likely pathogenic Single submitter
-
ACTB p.Ser365Cys
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Thr129Ile
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Thr162Ala Pathogenic Single submitter
-
ACTB p.Thr162Ser
Likely pathogenic
Single submitter
Baraitser-Winter syndrome 1
- ACTB p.Thr194Ala Uncertain significance Single submitter
-
ACTB p.Thr201Ala
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Thr229Met
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Thr318Ser
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Thr89Ala
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
-
ACTB p.Val247Ile
Uncertain significance
Single submitter
Baraitser-Winter syndrome 1
All ACTB variants
Pathogenic 47
- p.Arg147Cys Multiple submitters Becker nevus syndrome
- p.Arg183Trp Multiple submitters ACTB-related BAFopathy
- p.Arg196Cys Multiple submitters Baraitser-Winter syndrome 1
- p.Arg196His Multiple submitters Inborn genetic diseases
- p.Arg206Trp Multiple submitters Baraitser-Winter syndrome 1
- c.123+1G>A Single submitter Baraitser-Winter syndrome 1
- p.Ala204Gly Single submitter Baraitser-Winter syndrome 1
- p.Arg147Ser Single submitter Becker nevus syndrome
- p.Arg196Gly Single submitter
- p.Arg210Cys Single submitter Baraitser-Winter syndrome 1
- p.Arg335His Single submitter
- p.Asn296fs Single submitter Inborn genetic diseases
- p.Gln246fs Single submitter
- p.Glu117Asp Single submitter Baraitser-Winter syndrome 1
- p.Glu117Lys Single submitter Baraitser-Winter syndrome 1
- p.Glu72Lys Single submitter
- p.Gly301Ser Single submitter Baraitser-Winter syndrome 1
- p.Gly302Ala Single submitter
- p.Gly48fs Single submitter
- p.Gly74Cys Single submitter Baraitser-Winter syndrome 1
- p.His87Asp Single submitter Inborn genetic diseases
- p.Leu110fs Single submitter Baraitser-Winter syndrome 1
- p.Lys118_Met119delinsMetThr Single submitter
- p.Met119Thr Single submitter Baraitser-Winter syndrome 1
- p.Met119Val Single submitter Baraitser-Winter syndrome 1
- p.Met123Val Single submitter
- p.Met47Ile Single submitter Baraitser-Winter syndrome 1
- p.Pro70Thr Single submitter
- p.Thr162Ala Single submitter ⚠
- p.Thr351Ala Single submitter
- p.Trp340Cys Single submitter
- p.Val159fs Single submitter
- p.Val43Met Single submitter
- p.Ala331fs No assertion criteria ACTB-associated syndromic thrombocytopenia
- p.Arg196Ser No assertion criteria Baraitser-Winter syndrome 1
- p.Asn12Asp No assertion criteria Baraitser-Winter syndrome 1
- p.Asn12His No assertion criteria Baraitser-Winter syndrome 1
- p.Glu117Val No assertion criteria Baraitser-Winter syndrome 1
- p.Gly146Asp No assertion criteria CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC
- p.Gly146Val No assertion criteria CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC
- p.Gly268Arg No assertion criteria Baraitser-Winter syndrome 1
- p.Leu65Val No assertion criteria Baraitser-Winter syndrome 1
- p.Lys373Ter No assertion criteria Baraitser-Winter syndrome 1
- p.Ser338_Ile341del No assertion criteria ACTB-associated syndromic thrombocytopenia
- p.Ser368fs No assertion criteria ACTB-associated syndromic thrombocytopenia
- p.Thr120Ile No assertion criteria Baraitser-Winter syndrome 1
- p.Thr149Ile No assertion criteria Baraitser-Winter syndrome 1
Pathogenic/Likely pathogenic 12
- p.Arg206Gln Multiple submitters Inborn genetic diseases
- p.Arg210His Multiple submitters Baraitser-Winter syndrome 1
- p.Glu276Lys Multiple submitters Baraitser-Winter syndrome 1
- p.Gly197Ser Multiple submitters Baraitser-Winter syndrome 1
- p.His40Tyr Multiple submitters ACTB-related BAFopathy
- p.His73Tyr Multiple submitters Baraitser-Winter syndrome 1
- p.Leu171Phe Multiple submitters Baraitser-Winter syndrome 1
- p.Ser348Leu Multiple submitters Baraitser-Winter syndrome 1
- p.Tyr53Cys Multiple submitters Baraitser-Winter syndrome 1
- p.Val209Met Multiple submitters ACTB-related BAFopathy
- p.Gly146Ala No assertion criteria CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC
- p.Gly146Ser No assertion criteria CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC
Likely pathogenic 76
- p.Ala22Thr Multiple submitters ACTB-associated syndromic thrombocytopenia
- p.Ala7Thr Multiple submitters Baraitser-Winter syndrome 1
- p.Arg196Leu Multiple submitters aminoacylase 1 deficiency
- p.Asp24Asn Multiple submitters Baraitser-Winter syndrome 1
- p.Gly74Ser Multiple submitters Baraitser-Winter syndrome 1
- p.Ile341Val Multiple submitters Baraitser-Winter syndrome 1
- p.Pro109Ser Multiple submitters Baraitser-Winter syndrome 1
- p.Pro258Leu Multiple submitters Inborn genetic diseases
- p.Ser145Cys Multiple submitters Baraitser-Winter syndrome 1
- p.Thr160Ala Multiple submitters Baraitser-Winter syndrome 1
- p.Thr160Ile Multiple submitters Baraitser-Winter syndrome 1
- p.Thr297fs Multiple submitters ACTB Haploinsufficiency syndrome
- p.Val159Ala Multiple submitters ACTB-related disorder
- c.364-3C>G Single submitter
- p.Ala108Asp Single submitter Baraitser-Winter syndrome 1
- p.Ala144Thr Single submitter
- p.Ala260Glu Single submitter Inborn genetic diseases
- p.Ala331Asp Single submitter Baraitser-Winter syndrome 1
- p.Arg183Gly Single submitter ACTB-related disorder
- p.Arg206Gly Single submitter
- p.Arg290Cys Single submitter
- p.Arg335Cys Single submitter
- p.Asn296Lys Single submitter Inborn genetic diseases
- p.Asp11del Single submitter neurodevelopmental disorder
- p.Asp25Asn Single submitter
- p.Asp2Tyr Single submitter Baraitser-Winter syndrome 1
- p.Asp311fs Single submitter
- p.Asp3Phe Single submitter Baraitser-Winter syndrome 1
- p.Asp56Asn Single submitter
- p.Asp56Tyr Single submitter neurodevelopmental disorder
- p.Cys272Arg Single submitter Baraitser-Winter syndrome 1
- p.Gln360fs Single submitter neurodevelopmental disorder
- p.Glu195Lys Single submitter
- p.Glu72Gly Single submitter Baraitser-Winter syndrome 1
- p.Gly245Arg Single submitter
- p.Gly268Cys Single submitter ACTB-related disorder
- p.Gly48Cys Single submitter Baraitser-Winter syndrome 1
- p.His371Arg Single submitter ACTB-related disorder
- p.His73Asp Single submitter
- p.His73Gln Single submitter Baraitser-Winter syndrome 1
- p.Ile165Met Single submitter
- p.Ile330fs Single submitter intellectual disability
- p.Ile369fs Single submitter
- p.Ile75Thr Single submitter Baraitser-Winter syndrome 1
- p.Leu110Val Single submitter
- p.Leu176Pro Single submitter Baraitser-Winter syndrome 1
- p.Leu349Met Single submitter
- p.Leu349Val Single submitter
- p.Lys359_Gln360delinsAsnTer Single submitter developmental malformations-deafness-dystonia syndrome
- p.Lys50Asn Single submitter
- p.Met305Ile Single submitter
- p.Phe200Val Single submitter Baraitser-Winter syndrome 1
- p.Pro164His Single submitter developmental malformations-deafness-dystonia syndrome
- p.Pro264His Single submitter
- p.Pro322Arg Single submitter Baraitser-Winter syndrome 1
- p.Pro32Arg Single submitter ACTB-related disorder
- p.Pro38Leu Single submitter Baraitser-Winter syndrome 1
- p.Ser199Arg Single submitter
- p.Ser265Thr Single submitter ⚠
- p.Ser300_Met305del Single submitter
- p.Ser60Arg Single submitter
- p.Ser60Asn Single submitter Abnormal brain morphology
- p.Thr148_Thr149insLeuTyrAlaSerGlyArgThr Single submitter Becker nevus syndrome
- p.Thr162Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Thr201Ile Single submitter Baraitser-Winter syndrome 1
- p.Trp356Ter Single submitter ACTB-associated syndromic thrombocytopenia
- p.Trp86Cys Single submitter
- p.Val209Leu Single submitter Baraitser-Winter syndrome 1
- p.Val219Ile Single submitter neurodevelopmental disorder ⚠
- p.Asn111Asp No assertion criteria congenital smooth muscle hamartoma
- p.Asn111Ser No assertion criteria ACTB-related disorder
- p.Asp292fs No assertion criteria Baraitser-Winter syndrome 1
- p.Asp311His No assertion criteria Baraitser-Winter syndrome 1
- p.Gln137His No assertion criteria congenital smooth muscle hamartoma
- p.Ser338Phe No assertion criteria Baraitser-Winter syndrome 1
- p.Tyr337Ter No assertion criteria ACTB-related disorder
Conflicting classifications of pathogenicity 25
- c.124-3C>T Single submitter Baraitser-Winter syndrome 1
- p.Ala144= Single submitter Baraitser-Winter syndrome 1
- p.Ala26= Single submitter Baraitser-Winter syndrome 1
- p.Ala310= Single submitter Baraitser-Winter syndrome 1
- p.Arg183Gln Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Arg28Gln Single submitter ACTB-related disorder ⚠
- p.Arg28Gly Single submitter ACTB-related BAFopathy ⚠
- p.Asp187fs Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Glu241Lys Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly245Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly268= Single submitter Baraitser-Winter syndrome 1
- p.Gly42Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly48Asp Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile192Asn Single submitter ⚠
- p.Leu65Phe Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Phe375= Single submitter Baraitser-Winter syndrome 1
- p.Phe90del Single submitter Baraitser-Winter syndrome 1
- p.Pro164Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Pro32Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Pro70Leu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ser60= Single submitter developmental malformations-deafness-dystonia syndrome
- p.Trp356Arg Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Val103Leu Single submitter Baraitser-Winter cerebrofrontofacial syndrome ⚠
- p.Val152Met Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Glu364Lys No assertion criteria ACTB-associated syndromic thrombocytopenia ⚠
Benign 33
- c.124-4C>T Multiple submitters developmental malformations-deafness-dystonia syndrome
- c.124-7T>A Multiple submitters developmental malformations-deafness-dystonia syndrome
- c.364-16T>C Multiple submitters developmental malformations-deafness-dystonia syndrome
- c.984+39G>A Multiple submitters Baraitser-Winter syndrome 1
- c.-6-33C>T Multiple submitters Baraitser-Winter syndrome 1
- c.-6-4G>T Multiple submitters Baraitser-Winter syndrome 1
- p.Gln314= Multiple submitters Baraitser-Winter syndrome 1
- p.Ile317= Multiple submitters Baraitser-Winter syndrome 1
- p.Ile341= Multiple submitters Baraitser-Winter syndrome 1
- p.Val339= Multiple submitters developmental malformations-deafness-dystonia syndrome
- c.363+30C>G Single submitter
- c.363+43C>T Single submitter
- c.363+62G>T Single submitter
- c.363+79C>G Single submitter
- c.363+79C>T Single submitter
- c.364-143T>C Single submitter
- c.364-31C>T Single submitter
- c.364-38G>T Single submitter
- c.803-26A>C Single submitter
- c.803-37C>T Single submitter
- c.803-38G>A Single submitter
- c.985-38A>G Single submitter
- c.985-9C>T Single submitter Baraitser-Winter syndrome 1
- c.-50G>C Single submitter
- c.-6-129C>G Single submitter
- c.-7+27_-7+32del Single submitter
- c.-7+33_-7+54del Single submitter
- c.-7+34_-7+49del Single submitter
- c.*124del Single submitter
- c.*124dup Single submitter
- c.*125G>T Single submitter
- c.*267G>A Single submitter
- p.Ala347= Single submitter Baraitser-Winter syndrome 1
Benign/Likely benign 13
- c.363+16C>T Multiple submitters Baraitser-Winter syndrome 1
- c.984+15T>C Multiple submitters Baraitser-Winter syndrome 1
- c.985-6C>T Multiple submitters developmental malformations-deafness-dystonia syndrome
- p.Arg254= Multiple submitters developmental malformations-deafness-dystonia syndrome
- p.Asp56= Multiple submitters developmental malformations-deafness-dystonia syndrome
- p.Glu214= Multiple submitters Baraitser-Winter syndrome 1
- p.Ile151= Multiple submitters Baraitser-Winter syndrome 1
- p.Ile369= Multiple submitters Baraitser-Winter syndrome 1
- p.Leu105= Multiple submitters Baraitser-Winter syndrome 1
- p.Leu140= Multiple submitters developmental malformations-deafness-dystonia syndrome
- p.Pro32= Multiple submitters Baraitser-Winter syndrome 1
- p.Ser234= Multiple submitters Baraitser-Winter syndrome 1
- p.Ser348= Multiple submitters developmental malformations-deafness-dystonia syndrome
Likely benign 259
- c.363+15A>C Multiple submitters developmental malformations-deafness-dystonia syndrome
- c.364-4_364-3insAA Multiple submitters Baraitser-Winter syndrome 1
- c.364-4A>G Multiple submitters Baraitser-Winter syndrome 1
- c.364-7C>T Multiple submitters Baraitser-Winter syndrome 1
- c.364-8C>T Multiple submitters Baraitser-Winter syndrome 1
- c.803-7C>T Multiple submitters Baraitser-Winter syndrome 1
- c.-6-15C>G Multiple submitters Baraitser-Winter syndrome 1
- c.-6-309C>T Multiple submitters
- p.Ala108= Multiple submitters Baraitser-Winter syndrome 1
- p.Asn12= Multiple submitters Baraitser-Winter syndrome 1
- p.Asp244= Multiple submitters Baraitser-Winter syndrome 1
- p.Asp286= Multiple submitters Baraitser-Winter syndrome 1
- p.Asp363= Multiple submitters Baraitser-Winter syndrome 1
- p.Gly158= Multiple submitters Baraitser-Winter syndrome 1
- p.Ile34= Multiple submitters Baraitser-Winter syndrome 1
- p.Leu142= Multiple submitters Baraitser-Winter syndrome 1
- p.Leu94= Multiple submitters Baraitser-Winter syndrome 1
- p.Lys215= Multiple submitters Baraitser-Winter syndrome 1
- p.Phe21= Multiple submitters Baraitser-Winter syndrome 1
- p.Phe31= Multiple submitters Baraitser-Winter syndrome 1
- p.Phe90= Multiple submitters Baraitser-Winter syndrome 1
- p.Ser338= Multiple submitters Baraitser-Winter syndrome 1
- p.Thr126= Multiple submitters Baraitser-Winter syndrome 1
- p.Thr66= Multiple submitters Baraitser-Winter syndrome 1
- p.Thr89= Multiple submitters Baraitser-Winter syndrome 1
- p.Tyr143= Multiple submitters developmental malformations-deafness-dystonia syndrome
- p.Tyr240= Multiple submitters Baraitser-Winter syndrome 1
- p.Tyr294= Multiple submitters Baraitser-Winter syndrome 1
- p.Tyr337= Multiple submitters Baraitser-Winter syndrome 1
- p.Val219= Multiple submitters Baraitser-Winter syndrome 1
- c.123+10C>G Single submitter Baraitser-Winter syndrome 1
- c.123+10C>T Single submitter Baraitser-Winter syndrome 1
- c.123+16G>A Single submitter Baraitser-Winter syndrome 1
- c.123+17G>A Single submitter Baraitser-Winter syndrome 1
- c.123+17G>C Single submitter Baraitser-Winter syndrome 1
- c.123+17G>T Single submitter Baraitser-Winter syndrome 1
- c.123+18G>A Single submitter Baraitser-Winter syndrome 1
- c.123+20G>C Single submitter Baraitser-Winter syndrome 1
- c.123+7G>T Single submitter Baraitser-Winter syndrome 1
- c.124-10T>C Single submitter Baraitser-Winter syndrome 1
- c.124-11T>G Single submitter Baraitser-Winter syndrome 1
- c.124-11TTCC[3] Single submitter Baraitser-Winter syndrome 1
- c.124-13C>T Single submitter Baraitser-Winter syndrome 1
- c.124-14C>G Single submitter Baraitser-Winter syndrome 1
- c.124-14C>T Single submitter Baraitser-Winter syndrome 1
- c.124-16G>A Single submitter Baraitser-Winter syndrome 1
- c.124-18T>C Single submitter Baraitser-Winter syndrome 1
- c.124-19_124-17del Single submitter Baraitser-Winter syndrome 1
- c.124-20T>G Single submitter Baraitser-Winter syndrome 1
- c.124-5C>T Single submitter Baraitser-Winter syndrome 1
- c.124-6T>G Single submitter Baraitser-Winter syndrome 1
- c.124-8C>T Single submitter Baraitser-Winter syndrome 1
- c.124-9C>G Single submitter Baraitser-Winter syndrome 1
- c.124-9C>T Single submitter Baraitser-Winter syndrome 1
- c.363+10C>T Single submitter Baraitser-Winter syndrome 1
- c.363+11C>T Single submitter Baraitser-Winter syndrome 1
- c.363+127C>A Single submitter
- c.363+12G>T Single submitter Baraitser-Winter syndrome 1
- c.363+15A>G Single submitter Baraitser-Winter syndrome 1
- c.363+17C>T Single submitter Baraitser-Winter syndrome 1
- c.363+19C>T Single submitter Baraitser-Winter syndrome 1
- c.363+20T>G Single submitter Baraitser-Winter syndrome 1
- c.363+8G>T Single submitter Baraitser-Winter syndrome 1
- c.363+98G>T Single submitter
- c.363+9C>T Single submitter Baraitser-Winter syndrome 1
- c.364-11C>G Single submitter Baraitser-Winter syndrome 1
- c.364-12T>A Single submitter
- c.364-13C>T Single submitter Baraitser-Winter syndrome 1
- c.364-16_364-15delinsCG Single submitter Baraitser-Winter syndrome 1
- c.364-44C>T Single submitter
- c.364-4dup Single submitter Baraitser-Winter syndrome 1
- c.364-5T>G Single submitter Baraitser-Winter syndrome 1
- c.364-7C>A Single submitter Baraitser-Winter syndrome 1
- c.364-7C>G Single submitter Baraitser-Winter syndrome 1
- c.364-9G>C Single submitter Baraitser-Winter syndrome 1
- c.802+10G>A Single submitter Baraitser-Winter syndrome 1
- c.802+10G>C Single submitter Baraitser-Winter syndrome 1
- c.802+12C>T Single submitter Baraitser-Winter syndrome 1
- c.802+13_802+19dup Single submitter Baraitser-Winter syndrome 1
- c.802+15_802+22del Single submitter Baraitser-Winter syndrome 1
- c.802+15T>C Single submitter Baraitser-Winter syndrome 1
- c.802+17dup Single submitter Baraitser-Winter syndrome 1
- c.802+18C>A Single submitter Baraitser-Winter syndrome 1
- c.802+18C>T Single submitter Baraitser-Winter syndrome 1
- c.802+20C>T Single submitter Baraitser-Winter syndrome 1
- c.802+20del Single submitter Baraitser-Winter syndrome 1
- c.802+6dup Single submitter Baraitser-Winter syndrome 1
- c.803-13A>G Single submitter Baraitser-Winter syndrome 1
- c.803-14C>T Single submitter Baraitser-Winter syndrome 1
- c.803-16C>T Single submitter Baraitser-Winter syndrome 1
- c.803-17C>T Single submitter Baraitser-Winter syndrome 1
- c.803-18C>A Single submitter Baraitser-Winter syndrome 1
- c.803-18C>T Single submitter Baraitser-Winter syndrome 1
- c.803-20T>A Single submitter Baraitser-Winter syndrome 1
- c.803-20T>C Single submitter Baraitser-Winter syndrome 1
- c.803-6T>G Single submitter Baraitser-Winter syndrome 1
- c.803-7C>G Single submitter Baraitser-Winter syndrome 1
- c.803-9C>G Single submitter Baraitser-Winter syndrome 1
- c.803-9C>T Single submitter Baraitser-Winter syndrome 1
- c.984+10T>A Single submitter Baraitser-Winter syndrome 1
- c.984+10T>C Single submitter Baraitser-Winter syndrome 1
- c.984+12dup Single submitter Baraitser-Winter syndrome 1
- c.984+13C>G Single submitter Baraitser-Winter syndrome 1
- c.984+16G>C Single submitter Baraitser-Winter syndrome 1
- c.984+17C>T Single submitter Baraitser-Winter syndrome 1
- c.984+19T>A Single submitter Baraitser-Winter syndrome 1
- c.984+9C>T Single submitter Baraitser-Winter syndrome 1
- c.985-10C>T Single submitter Baraitser-Winter syndrome 1
- c.985-13C>T Single submitter Baraitser-Winter syndrome 1
- c.985-15C>T Single submitter Baraitser-Winter syndrome 1
- c.985-16C>T Single submitter Baraitser-Winter syndrome 1
- c.985-17_985-16delinsAT Single submitter Baraitser-Winter syndrome 1
- c.985-18G>A Single submitter Baraitser-Winter syndrome 1
- c.985-5_985-3del Single submitter Baraitser-Winter syndrome 1
- c.985-7T>A Single submitter Baraitser-Winter syndrome 1
- c.985-8C>T Single submitter Baraitser-Winter syndrome 1
- c.-23T>C Single submitter
- c.-25_-9dup Single submitter
- c.-2C>G Single submitter
- c.-32C>A Single submitter
- c.-50G>T Single submitter
- c.-6-182G>A Single submitter
- c.-7+15C>G Single submitter
- c.*260G>A Single submitter
- c.*280G>A Single submitter
- c.*96dup Single submitter
- p.Ala131= Single submitter Baraitser-Winter syndrome 1
- p.Ala138= Single submitter Baraitser-Winter syndrome 1
- p.Ala170= Single submitter Baraitser-Winter syndrome 1
- p.Ala174= Single submitter Baraitser-Winter syndrome 1
- p.Ala19= Single submitter Baraitser-Winter syndrome 1
- p.Ala220= Single submitter Baraitser-Winter syndrome 1
- p.Ala260= Single submitter Baraitser-Winter syndrome 1
- p.Ala295= Single submitter Baraitser-Winter syndrome 1
- p.Ala6= Single submitter Baraitser-Winter syndrome 1
- p.Arg116= Single submitter Baraitser-Winter syndrome 1
- p.Arg196= Single submitter Baraitser-Winter syndrome 1
- p.Arg312= Single submitter
- p.Arg37= Single submitter Baraitser-Winter syndrome 1
- p.Arg372= Single submitter
- p.Asn252= Single submitter Baraitser-Winter syndrome 1
- p.Asn92= Single submitter Baraitser-Winter syndrome 1
- p.Asp154= Single submitter Baraitser-Winter syndrome 1
- p.Asp157= Single submitter Baraitser-Winter syndrome 1
- p.Asp179= Single submitter Baraitser-Winter syndrome 1
- p.Asp184= Single submitter Baraitser-Winter syndrome 1
- p.Asp187= Single submitter Baraitser-Winter syndrome 1
- p.Asp24= Single submitter Baraitser-Winter syndrome 1
- p.Asp288= Single submitter Baraitser-Winter syndrome 1
- p.Asp4= Single submitter Baraitser-Winter syndrome 1
- p.Cys217= Single submitter
- p.Cys374= Single submitter Baraitser-Winter syndrome 1
- p.Gln246= Single submitter Baraitser-Winter syndrome 1
- p.Gln353= Single submitter Baraitser-Winter syndrome 1
- p.Gln59= Single submitter Baraitser-Winter syndrome 1
- p.Glu107= Single submitter Baraitser-Winter syndrome 1
- p.Glu117= Single submitter Baraitser-Winter syndrome 1
- p.Glu207= Single submitter Baraitser-Winter syndrome 1
- p.Glu316= Single submitter Baraitser-Winter syndrome 1
- p.Glu99= Single submitter Baraitser-Winter syndrome 1
- p.Gly13= Single submitter Baraitser-Winter syndrome 1
- p.Gly146= Single submitter
- p.Gly168= Single submitter Baraitser-Winter syndrome 1
- p.Gly20= Single submitter Baraitser-Winter syndrome 1
- p.Gly23= Single submitter Baraitser-Winter syndrome 1
- p.Gly273= Single submitter Baraitser-Winter syndrome 1
- p.Gly301= Single submitter Baraitser-Winter syndrome 1
- p.Gly308= Single submitter Baraitser-Winter syndrome 1
- p.Gly342= Single submitter Baraitser-Winter syndrome 1
- p.Gly343= Single submitter Baraitser-Winter syndrome 1
- p.Gly46= Single submitter Baraitser-Winter syndrome 1
- p.His275= Single submitter Baraitser-Winter syndrome 1
- p.His73= Single submitter Baraitser-Winter syndrome 1
- p.His88= Single submitter Baraitser-Winter syndrome 1
- p.Ile122= Single submitter Baraitser-Winter syndrome 1
- p.Ile136= Single submitter Baraitser-Winter syndrome 1
- p.Ile165= Single submitter Baraitser-Winter syndrome 1
- p.Ile175= Single submitter Baraitser-Winter syndrome 1
- p.Ile192= Single submitter Baraitser-Winter syndrome 1
- p.Ile208= Single submitter Baraitser-Winter syndrome 1
- p.Ile248= Single submitter Baraitser-Winter syndrome 1
- p.Ile274= Single submitter Baraitser-Winter syndrome 1
- p.Ile5= Single submitter Baraitser-Winter syndrome 1
- p.Ile64= Single submitter Baraitser-Winter syndrome 1
- p.Ile71= Single submitter Baraitser-Winter syndrome 1
- p.Ile75= Single submitter
- p.Ile85= Single submitter Baraitser-Winter syndrome 1
- p.Leu104= Single submitter Baraitser-Winter syndrome 1
- p.Leu176= Single submitter Baraitser-Winter syndrome 1
- p.Leu178= Single submitter Baraitser-Winter syndrome 1
- p.Leu180= Single submitter Baraitser-Winter syndrome 1
- p.Leu185= Single submitter Baraitser-Winter syndrome 1
- p.Leu189= Single submitter Baraitser-Winter syndrome 1
- p.Leu193= Single submitter Baraitser-Winter syndrome 1
- p.Leu221= Single submitter Baraitser-Winter syndrome 1
- p.Leu236= Single submitter Baraitser-Winter syndrome 1
- p.Leu242= Single submitter Baraitser-Winter syndrome 1
- p.Leu261= Single submitter Baraitser-Winter syndrome 1
- p.Leu293= Single submitter Baraitser-Winter syndrome 1
- p.Leu320= Single submitter Baraitser-Winter syndrome 1
- p.Leu346= Single submitter Baraitser-Winter syndrome 1
- p.Leu349= Single submitter Baraitser-Winter syndrome 1
- p.Leu65= Single submitter Baraitser-Winter syndrome 1
- p.Leu67= Single submitter Baraitser-Winter syndrome 1
- p.Leu8= Single submitter Baraitser-Winter syndrome 1
- p.Lys118= Single submitter Baraitser-Winter syndrome 1
- p.Lys18= Single submitter Baraitser-Winter syndrome 1
- p.Lys291= Single submitter Baraitser-Winter syndrome 1
- p.Lys373= Single submitter Baraitser-Winter syndrome 1
- p.Lys50= Single submitter Baraitser-Winter syndrome 1
- p.Phe127= Single submitter Baraitser-Winter syndrome 1
- p.Phe223= Single submitter Baraitser-Winter syndrome 1
- p.Phe262= Single submitter Baraitser-Winter syndrome 1
- p.Phe266= Single submitter Baraitser-Winter syndrome 1
- p.Phe352= Single submitter Baraitser-Winter syndrome 1
- p.Pro102= Single submitter
- p.Pro109= Single submitter Baraitser-Winter syndrome 1
- p.Pro164= Single submitter Baraitser-Winter syndrome 1
- p.Pro172= Single submitter Baraitser-Winter syndrome 1
- p.Pro258= Single submitter
- p.Pro27= Single submitter Baraitser-Winter syndrome 1
- p.Pro322= Single submitter Baraitser-Winter syndrome 1
- p.Pro332= Single submitter Baraitser-Winter syndrome 1
- p.Pro367= Single submitter Baraitser-Winter syndrome 1
- p.Pro38= Single submitter Baraitser-Winter syndrome 1
- p.Pro70= Single submitter Baraitser-Winter syndrome 1
- p.Pro98= Single submitter Baraitser-Winter syndrome 1
- p.Ser14= Single submitter Baraitser-Winter syndrome 1
- p.Ser141= Single submitter Baraitser-Winter syndrome 1
- p.Ser155= Single submitter Baraitser-Winter syndrome 1
- p.Ser233= Single submitter Baraitser-Winter syndrome 1
- p.Ser265= Single submitter Baraitser-Winter syndrome 1
- p.Ser271= Single submitter Baraitser-Winter syndrome 1
- p.Ser300= Single submitter Baraitser-Winter syndrome 1
- p.Ser33= Single submitter
- p.Ser358= Single submitter Baraitser-Winter syndrome 1
- p.Ser365= Single submitter Baraitser-Winter syndrome 1
- p.Ser52= Single submitter Baraitser-Winter syndrome 1
- p.Thr106= Single submitter Baraitser-Winter syndrome 1
- p.Thr129= Single submitter Baraitser-Winter syndrome 1
- p.Thr194= Single submitter Baraitser-Winter syndrome 1
- p.Thr203= Single submitter Baraitser-Winter syndrome 1
- p.Thr229= Single submitter Baraitser-Winter syndrome 1
- p.Thr278= Single submitter Baraitser-Winter syndrome 1
- p.Thr297= Single submitter Baraitser-Winter syndrome 1
- p.Thr303= Single submitter Baraitser-Winter syndrome 1
- p.Thr351= Single submitter Baraitser-Winter syndrome 1
- p.Thr77= Single submitter Baraitser-Winter syndrome 1
- p.Tyr133= Single submitter Baraitser-Winter syndrome 1
- p.Tyr166= Single submitter Baraitser-Winter syndrome 1
- p.Tyr218= Single submitter Baraitser-Winter syndrome 1
- p.Tyr69= Single submitter Baraitser-Winter syndrome 1
- p.Tyr91= Single submitter Baraitser-Winter syndrome 1
- p.Val10= Single submitter Baraitser-Winter syndrome 1
- p.Val139= Single submitter Baraitser-Winter syndrome 1
- p.Val30= Single submitter Baraitser-Winter syndrome 1
- p.Val45= Single submitter Baraitser-Winter syndrome 1
- p.Val76= Single submitter Baraitser-Winter syndrome 1
- p.Val9= Single submitter Baraitser-Winter syndrome 1
Uncertain significance 161
- p.Arg372Cys Multiple submitters ⚠
- p.Arg372His Multiple submitters Baraitser-Winter syndrome 1 ⚠
- p.Asn280Thr Multiple submitters Baraitser-Winter syndrome 1 ⚠
- p.Asp179Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp2Val Multiple submitters Baraitser-Winter syndrome 1 ⚠
- p.Asp4del Multiple submitters Baraitser-Winter syndrome 1
- p.Glu57Lys Multiple submitters Baraitser-Winter syndrome 1 ⚠
- p.His101Tyr Multiple submitters ACTB-related disorder ⚠
- p.His371Tyr Multiple submitters Baraitser-Winter syndrome 1 ⚠
- p.Lys84Glu Multiple submitters Baraitser-Winter syndrome 1 ⚠
- p.Thr229Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr297Ile Multiple submitters Baraitser-Winter syndrome 1 ⚠
- p.Val134Ile Multiple submitters Baraitser-Winter syndrome 1 ⚠
- c.123+3A>C Single submitter Baraitser-Winter syndrome 1
- c.123+3A>G Single submitter Baraitser-Winter syndrome 1
- c.123+4G>A Single submitter Baraitser-Winter syndrome 1
- c.124-3C>A Single submitter Baraitser-Winter syndrome 1
- c.364-17_364-16delinsTC Single submitter Baraitser-Winter syndrome 1
- c.364-3C>T Single submitter Baraitser-Winter syndrome 1
- c.802+8G>C Single submitter Baraitser-Winter syndrome 1
- c.984+3G>A Single submitter
- c.984+4_984+5dup Single submitter Baraitser-Winter syndrome 1
- c.985-43_993dup Single submitter
- c.-1C>T Single submitter
- c.*4G>T Single submitter
- p.Ala108Val Single submitter ⚠
- p.Ala181_Leu185del Single submitter Baraitser-Winter syndrome 1
- p.Ala220Val Single submitter ⚠
- p.Ala22Val Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ala26Pro Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ala319Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ala319Thr Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ala58Val Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ala7Val Single submitter ACTB-related BAFopathy ⚠
- p.Arg147His Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Arg206fs Single submitter Baraitser-Winter syndrome 1
- p.Arg312Gly Single submitter ⚠
- p.Arg335Pro Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asn128Thr Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asn12Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asn252Asp Single submitter ⚠
- p.Asn252Ser Single submitter ⚠
- p.Asn296Asp Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asn296Ser Single submitter Inborn genetic diseases ⚠
- p.Asn92Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asp179His Single submitter ⚠
- p.Asp184Ala Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asp187Glu Single submitter ⚠
- p.Asp222_Phe223del Single submitter Baraitser-Winter syndrome 1
- p.Asp292Asn Single submitter ⚠
- p.Asp292Glu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asp311Asn Single submitter ⚠
- p.Asp3His Single submitter ⚠
- p.Asp80Glu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Cys257Tyr Single submitter ⚠
- p.Cys374Tyr Single submitter ⚠
- p.Gln137= Single submitter
- p.Gln225fs Single submitter Baraitser-Winter syndrome 1
- p.Gln225Glu Single submitter ⚠
- p.Gln263fs Single submitter Baraitser-Winter syndrome 1
- p.Gln263Pro Single submitter ⚠
- p.Gln353Pro Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Glu125Lys Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Glu195Gln Single submitter ACTB-associated syndromic thrombocytopenia ⚠
- p.Glu224Gln Single submitter ⚠
- p.Glu224Lys Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Glu270Asp Single submitter ⚠
- p.Glu276Asp Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Glu316del Single submitter
- p.Glu57Ala Single submitter Inborn genetic diseases ⚠
- p.Glu83Asp Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Glu93Gln Single submitter ⚠
- p.Gly15= Single submitter Baraitser-Winter syndrome 1
- p.Gly15Ala Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly20Asp Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly23Asp Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly251= Single submitter Baraitser-Winter syndrome 1
- p.Gly343Asp Single submitter ⚠
- p.Gly343Ser Single submitter ACTB-related disorder ⚠
- p.Gly366fs Single submitter Baraitser-Winter syndrome 1
- p.Gly366Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly42Ala Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Gly46Arg Single submitter Baraitser-Winter syndrome 1 ⚠
- p.His275Gln Single submitter ⚠
- p.His40Gln Single submitter Baraitser-Winter syndrome 1 ⚠
- p.His87Tyr Single submitter ⚠
- p.Ile136Leu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile136Val Single submitter Inborn genetic diseases ⚠
- p.Ile212Val Single submitter ⚠
- p.Ile274Val Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile282Val Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile289Val Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile309Met Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile309Phe Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile327Met Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile341Leu Single submitter ⚠
- p.Ile71Met Single submitter ⚠
- p.Ile75Met Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ile85Thr Single submitter ⚠
- p.Leu110Arg Single submitter Inborn genetic diseases ⚠
- p.Leu171_Ala174del Single submitter Baraitser-Winter syndrome 1
- p.Leu185Val Single submitter ⚠
- p.Leu267= Single submitter Baraitser-Winter syndrome 1
- p.Leu8Val Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Lys118del Single submitter neurodevelopmental disorder
- p.Lys215Asn Single submitter Inborn genetic diseases ⚠
- p.Lys315del Single submitter Baraitser-Winter syndrome 1
- p.Lys328= Single submitter Baraitser-Winter syndrome 1
- p.Lys336Arg Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Met123Ile Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Met153Arg Single submitter thrombocytopenia ⚠
- p.Met1Arg Single submitter Baraitser-Winter syndrome 1
- p.Met283Thr Single submitter Becker nevus syndrome ⚠
- p.Met305Thr Single submitter ⚠
- p.Met355fs Single submitter Baraitser-Winter syndrome 1
- p.Met355Ile Single submitter Inborn genetic diseases ⚠
- p.Met44Ile Single submitter ACTB-associated syndromic thrombocytopenia ⚠
- p.Met47Thr Single submitter ⚠
- p.Met82Ile Single submitter ⚠
- p.Phe223Ser Single submitter ⚠
- p.Phe262Leu Single submitter Inborn genetic diseases ⚠
- p.Pro130Arg Single submitter ⚠
- p.Pro130Leu Single submitter ⚠
- p.Pro172Arg Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Pro243Leu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Pro258Ala Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Pro307Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Pro367Leu Single submitter ⚠
- p.Ser141Cys Single submitter ⚠
- p.Ser265Ala Single submitter dystonic disorder ⚠
- p.Ser271Phe Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ser300Pro Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ser365Cys Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Ser52Phe Single submitter ⚠
- p.Thr120Ser Single submitter ⚠
- p.Thr129Ile Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Thr194Ala Single submitter ⚠
- p.Thr201Ala Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Thr229Met Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Thr249Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Thr318Ser Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Thr89Ala Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Trp79Ter Single submitter
- p.Trp86Ter Single submitter developmental malformations-deafness-dystonia syndrome
- p.Tyr166Cys Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Tyr294_Leu299del Single submitter Inborn genetic diseases
- p.Tyr294Asp Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Tyr362Cys Single submitter ⚠
- p.Tyr69His Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Val103Met Single submitter ⚠
- p.Val219Leu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Val247Ile Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Val247Phe Single submitter ⚠
- p.Val287Ala Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Val298Met Single submitter ⚠
- p.Val370Gly Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Val96Leu Single submitter Baraitser-Winter syndrome 1 ⚠
- p.Asp222Glu No assertion criteria ACTB-related disorder ⚠
- p.Glu361Lys No assertion criteria ⚠
- p.Ile317fs No assertion criteria thrombocytopenia
- p.Pro70His No assertion criteria Baraitser-Winter syndrome 1 ⚠