DAB1 — 148 ClinVar variants
All ClinVar germline DAB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 92 flagged for review →
1 Likely pathogenic · 3 Conflicting · 33 Benign · 4 Benign/Likely benign · 25 Likely benign · 82 Uncertain significance
Full DAB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 92
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DAB1 p.Ala103Val Uncertain significance Multiple submitters
-
DAB1 p.Arg41Gln
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 37
- DAB1 p.Pro334Leu Uncertain significance Multiple submitters
- DAB1 p.Pro391Ser Uncertain significance Multiple submitters
- DAB1 p.Pro516Leu Uncertain significance Multiple submitters
-
DAB1 p.Val240Leu
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 37
- DAB1 p.Ala281Val Uncertain significance Single submitter
- DAB1 p.Ala340Ser Uncertain significance Single submitter
- DAB1 p.Ala364Gly Uncertain significance Single submitter
- DAB1 p.Ala365Thr Uncertain significance Single submitter
- DAB1 p.Ala377Asp Uncertain significance Single submitter
- DAB1 p.Ala497Pro Uncertain significance Single submitter
- DAB1 p.Ala524Val Uncertain significance Single submitter
- DAB1 p.Arg137Lys Uncertain significance Single submitter
- DAB1 p.Arg41Trp Uncertain significance Single submitter
- DAB1 p.Arg76His Uncertain significance Single submitter
- DAB1 p.Asp463Gly Uncertain significance Single submitter
- DAB1 p.Asp526Asn Uncertain significance Single submitter
- DAB1 p.Asp98Asn Uncertain significance Single submitter
- DAB1 p.Gln314Pro Uncertain significance Single submitter
- DAB1 p.Gln489His Uncertain significance Single submitter
- DAB1 p.Gln62Lys Uncertain significance Single submitter
- DAB1 p.Glu441Asp Uncertain significance Single submitter
- DAB1 p.Glu520Lys Uncertain significance Single submitter
- DAB1 p.Gly554Ser Uncertain significance Single submitter
- DAB1 p.Ile258Val Uncertain significance Single submitter
- DAB1 p.Ile508Val Uncertain significance Single submitter
- DAB1 p.Ile89Val Uncertain significance Single submitter
- DAB1 p.Leu154Phe Uncertain significance Single submitter
- DAB1 p.Leu346Pro Uncertain significance Single submitter
- DAB1 p.Lys172Glu Uncertain significance Single submitter
- DAB1 p.Lys21Arg Uncertain significance Single submitter
- DAB1 p.Phe537Ser Uncertain significance Single submitter
- DAB1 p.Pro262Leu Uncertain significance Single submitter
- DAB1 p.Pro328Ser Uncertain significance Single submitter
- DAB1 p.Pro386Ser Uncertain significance Single submitter
- DAB1 p.Pro536Ala Uncertain significance Single submitter
- DAB1 p.Ser298Pro Uncertain significance Single submitter
- DAB1 p.Ser396Pro Uncertain significance Single submitter
- DAB1 p.Thr215Ala Uncertain significance Single submitter
- DAB1 p.Thr224Pro Uncertain significance Single submitter
- DAB1 p.Thr278Asn Uncertain significance Single submitter
- DAB1 p.Thr3Ala Uncertain significance Single submitter
- DAB1 p.Thr437Ile Uncertain significance Single submitter
- DAB1 p.Thr88Ile Uncertain significance Single submitter
- DAB1 p.Val193Ile Uncertain significance Single submitter
- DAB1 p.Val317Ile Uncertain significance Single submitter
- DAB1 p.Val322Phe Uncertain significance Single submitter
- DAB1 p.Val390Ile Uncertain significance Single submitter
-
DAB1 p.Gly70Asp
Uncertain significance
No assertion criteria
spinocerebellar ataxia type 37
Predictors split 39
The independent predictors disagree with each other — read with care.
- DAB1 p.Ala75Thr Uncertain significance Multiple submitters
- DAB1 p.Gly554Cys Benign/Likely benign Multiple submitters
- DAB1 p.Pro280Ser Likely benign Multiple submitters
- DAB1 p.Pro376Ala Uncertain significance Multiple submitters
- DAB1 c.724-7520C>T Likely benign Single submitter
- DAB1 p.Ala336Pro Uncertain significance Single submitter
- DAB1 p.Ala54Thr Uncertain significance Single submitter
- DAB1 p.Arg429His Uncertain significance Single submitter
- DAB1 p.Arg429Leu Uncertain significance Single submitter
- DAB1 p.Asp212Gly Uncertain significance Single submitter
- DAB1 p.Asp460Asn Uncertain significance Single submitter
- DAB1 p.Glu247Lys Uncertain significance Single submitter
- DAB1 p.Gly292Asp Uncertain significance Single submitter
- DAB1 p.Gly312Ser Uncertain significance Single submitter
-
DAB1 p.Gly359Arg
Likely benign
Single submitter
Peters anomaly
- DAB1 p.Gly451Arg Uncertain significance Single submitter
-
DAB1 p.His107Tyr
Uncertain significance
Single submitter
spinocerebellar ataxia type 37
- DAB1 p.Leu164Phe Uncertain significance Single submitter
- DAB1 p.Leu469Met Uncertain significance Single submitter
- DAB1 p.Leu7Phe Uncertain significance Single submitter
- DAB1 p.Leu87Val Uncertain significance Single submitter
- DAB1 p.Met333Thr Uncertain significance Single submitter
-
DAB1 p.Pro255Ser
Likely pathogenic
Single submitter
spastic ataxia
- DAB1 p.Pro344Leu Uncertain significance Single submitter
- DAB1 p.Pro362Leu Likely benign Single submitter
- DAB1 p.Pro368Ala Uncertain significance Single submitter
- DAB1 p.Pro386Arg Uncertain significance Single submitter
- DAB1 p.Pro406His Uncertain significance Single submitter
- DAB1 p.Pro540Ser Uncertain significance Single submitter
- DAB1 p.Ser253Phe Uncertain significance Single submitter
- DAB1 p.Ser400Asn Uncertain significance Single submitter
- DAB1 p.Ser445Arg Uncertain significance Single submitter
- DAB1 p.Ser491Cys Uncertain significance Single submitter
- DAB1 p.Ser517Cys Uncertain significance Single submitter
- DAB1 p.Ser541Gly Uncertain significance Single submitter
- DAB1 p.Tyr300His Uncertain significance Single submitter
- DAB1 p.Val426Met Uncertain significance Single submitter
-
DAB1 p.His106Gln
Likely benign
No assertion criteria
DAB1-related disorder
-
DAB1 p.Ser287Asn
Benign
No assertion criteria
DAB1-related disorder
All DAB1 variants
Likely pathogenic 1
- p.Pro255Ser Single submitter spastic ataxia ⚠
Conflicting classifications of pathogenicity 3
- p.Ala15Thr Single submitter spinocerebellar ataxia type 37 ⚠
- p.Ala330Thr Single submitter ⚠
- p.Ile120Thr Single submitter ⚠
Benign 33
- c.1444+132G>C Multiple submitters
- c.1445-89C>G Multiple submitters
- c.208-20C>T Multiple submitters
- c.208-69A>G Multiple submitters
- c.558+133C>T Multiple submitters
- c.559-207T>C Multiple submitters
- c.597+114A>G Multiple submitters
- c.598-100G>T Multiple submitters
- c.664-156T>C Multiple submitters
- c.68-228T>C Multiple submitters
- c.68-74C>G Multiple submitters
- c.68-93A>G Multiple submitters
- c.723+34G>A Multiple submitters
- c.787-217T>G Multiple submitters
- c.895+67A>G Multiple submitters
- p.Val71Ile Multiple submitters
- c.1445-205C>T Single submitter
- c.307-10del Single submitter
- c.307-9C>T Single submitter
- c.438+188T>C Single submitter
- c.438+201G>C Single submitter
- c.438+202dup Single submitter
- c.438+217_438+218del Single submitter
- c.438+218del Single submitter
- c.438+224A>G Single submitter
- c.787-194C>T Single submitter
- c.896-180A>G Single submitter
- c.-136-142A>C Single submitter
- c.-136-179T>A Single submitter
- c.-136-203T>G Single submitter
- c.-136-4G>T Single submitter spinocerebellar ataxia type 37
- c.307-10dup No assertion criteria DAB1-related disorder
- p.Ser287Asn No assertion criteria DAB1-related disorder ⚠
Benign/Likely benign 4
- p.Ala553= Multiple submitters
- p.Gly554Cys Multiple submitters ⚠
- p.His207= Multiple submitters
- p.Pro368= Multiple submitters
Likely benign 25
- p.Leu157= Multiple submitters
- p.Pro280Ser Multiple submitters ⚠
- c.1444+8C>A Single submitter
- c.438+10C>T Single submitter
- c.439-3C>T Single submitter
- c.67+8T>C Single submitter
- c.724-7520C>T Single submitter ⚠
- p.Ala205= Single submitter
- p.Ala265Thr Single submitter
- p.Asp457= Single submitter
- p.Gln62= Single submitter
- p.Gly292Ser Single submitter
- p.Gly359Arg Single submitter Peters anomaly ⚠
- p.Pro308= Single submitter
- p.Pro362Leu Single submitter ⚠
- p.Ser53= Single submitter
- p.Thr393= Single submitter
- p.Val329= Single submitter
- p.Ala358= No assertion criteria DAB1-related disorder
- p.His106Gln No assertion criteria DAB1-related disorder ⚠
- p.Ile339= No assertion criteria DAB1-related disorder
- p.Met410Thr No assertion criteria DAB1-related disorder
- p.Pro223= No assertion criteria DAB1-related disorder
- p.Pro424= No assertion criteria DAB1-related disorder
- p.Ser14= No assertion criteria DAB1-related disorder
Uncertain significance 82
- p.Ala103Val Multiple submitters ⚠
- p.Ala75Thr Multiple submitters ⚠
- p.Arg41Gln Multiple submitters spinocerebellar ataxia type 37 ⚠
- p.Pro334Leu Multiple submitters ⚠
- p.Pro376Ala Multiple submitters ⚠
- p.Pro391Ser Multiple submitters ⚠
- p.Pro516Leu Multiple submitters ⚠
- p.Val240Leu Multiple submitters spinocerebellar ataxia type 37 ⚠
- p.Ala281Val Single submitter ⚠
- p.Ala336Pro Single submitter ⚠
- p.Ala340Ser Single submitter ⚠
- p.Ala364Gly Single submitter ⚠
- p.Ala365Thr Single submitter ⚠
- p.Ala377Asp Single submitter ⚠
- p.Ala497Pro Single submitter ⚠
- p.Ala524Val Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Arg137Lys Single submitter ⚠
- p.Arg41Trp Single submitter ⚠
- p.Arg429His Single submitter ⚠
- p.Arg429Leu Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Asp212Gly Single submitter ⚠
- p.Asp460Asn Single submitter ⚠
- p.Asp463Gly Single submitter ⚠
- p.Asp526Asn Single submitter ⚠
- p.Asp98Asn Single submitter ⚠
- p.Gln314Pro Single submitter ⚠
- p.Gln489His Single submitter ⚠
- p.Gln62Lys Single submitter ⚠
- p.Glu247Lys Single submitter ⚠
- p.Glu441Asp Single submitter ⚠
- p.Glu520Lys Single submitter ⚠
- p.Gly292Asp Single submitter ⚠
- p.Gly312Ser Single submitter ⚠
- p.Gly451Arg Single submitter ⚠
- p.Gly554Ser Single submitter ⚠
- p.His107Tyr Single submitter spinocerebellar ataxia type 37 ⚠
- p.Ile258Val Single submitter ⚠
- p.Ile508Val Single submitter ⚠
- p.Ile89Val Single submitter ⚠
- p.Leu154Phe Single submitter ⚠
- p.Leu164Phe Single submitter ⚠
- p.Leu346Pro Single submitter ⚠
- p.Leu469Met Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Leu87Val Single submitter ⚠
- p.Lys172Glu Single submitter ⚠
- p.Lys21Arg Single submitter ⚠
- p.Met333Thr Single submitter ⚠
- p.Phe537Ser Single submitter ⚠
- p.Pro262Leu Single submitter ⚠
- p.Pro328Ser Single submitter ⚠
- p.Pro344Leu Single submitter ⚠
- p.Pro368Ala Single submitter ⚠
- p.Pro386Arg Single submitter ⚠
- p.Pro386Ser Single submitter ⚠
- p.Pro406His Single submitter ⚠
- p.Pro536Ala Single submitter ⚠
- p.Pro540Ser Single submitter ⚠
- p.Ser253Phe Single submitter ⚠
- p.Ser298Pro Single submitter ⚠
- p.Ser396Pro Single submitter ⚠
- p.Ser400Asn Single submitter ⚠
- p.Ser445Arg Single submitter ⚠
- p.Ser491Cys Single submitter ⚠
- p.Ser517Cys Single submitter ⚠
- p.Ser541Gly Single submitter ⚠
- p.Thr215Ala Single submitter ⚠
- p.Thr224Pro Single submitter ⚠
- p.Thr278Asn Single submitter ⚠
- p.Thr3Ala Single submitter ⚠
- p.Thr437Ile Single submitter ⚠
- p.Thr88Ile Single submitter ⚠
- p.Tyr300His Single submitter ⚠
- p.Val193Ile Single submitter ⚠
- p.Val317Ile Single submitter ⚠
- p.Val322Phe Single submitter ⚠
- p.Val390Ile Single submitter ⚠
- p.Val426Met Single submitter ⚠
- p.Ala146= No assertion criteria DAB1-related disorder
- p.Gly70Asp No assertion criteria spinocerebellar ataxia type 37 ⚠