BEGAIN — 75 ClinVar variants
All ClinVar germline BEGAIN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 70 flagged for review →
3 Benign · 1 Likely benign · 71 Uncertain significance
Full BEGAIN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 70
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 lean, ClinVar uncertain 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BEGAIN p.Gly388Arg
Uncertain significance
Multiple submitters
Marfanoid habitus and intellectual disability
- BEGAIN p.Ala194Ser Uncertain significance Single submitter
- BEGAIN p.Ala221Gly Uncertain significance Single submitter
- BEGAIN p.Ala285Gly Uncertain significance Single submitter
- BEGAIN p.Ala339Thr Uncertain significance Single submitter
- BEGAIN p.Ala454Pro Uncertain significance Single submitter
- BEGAIN p.Ala471Pro Uncertain significance Single submitter
- BEGAIN p.Ala571Gly Uncertain significance Single submitter
- BEGAIN p.Arg109His Uncertain significance Single submitter
- BEGAIN p.Arg172Cys Uncertain significance Single submitter
- BEGAIN p.Arg217Leu Uncertain significance Single submitter
- BEGAIN p.Arg260Pro Uncertain significance Single submitter
- BEGAIN p.Arg262Trp Uncertain significance Single submitter
- BEGAIN p.Arg277Pro Uncertain significance Single submitter
- BEGAIN p.Arg400Cys Uncertain significance Single submitter
- BEGAIN p.Arg457Cys Uncertain significance Single submitter
- BEGAIN p.Arg524His Uncertain significance Single submitter
- BEGAIN p.Arg589Gln Uncertain significance Single submitter
- BEGAIN p.Arg589Gly Uncertain significance Single submitter
- BEGAIN p.Arg589Trp Uncertain significance Single submitter
- BEGAIN p.Arg99Cys Uncertain significance Single submitter
- BEGAIN p.Arg99His Uncertain significance Single submitter
- BEGAIN p.Asp220Asn Uncertain significance Single submitter
- BEGAIN p.Asp267Gly Uncertain significance Single submitter
- BEGAIN p.Asp517Asn Uncertain significance Single submitter
- BEGAIN p.Asp95Asn Uncertain significance Single submitter
- BEGAIN p.Glu114Lys Uncertain significance Single submitter
- BEGAIN p.Glu257Asp Uncertain significance Single submitter
- BEGAIN p.Glu290Val Uncertain significance Single submitter
- BEGAIN p.Glu380Lys Uncertain significance Single submitter
- BEGAIN p.Glu382Lys Uncertain significance Single submitter
- BEGAIN p.Glu536Asp Uncertain significance Single submitter
- BEGAIN p.Gly157Ser Uncertain significance Single submitter
- BEGAIN p.Gly406Asp Uncertain significance Single submitter
- BEGAIN p.Gly469Val Uncertain significance Single submitter
- BEGAIN p.Gly470Val Uncertain significance Single submitter
- BEGAIN p.Gly472Arg Uncertain significance Single submitter
- BEGAIN p.Gly537Ala Uncertain significance Single submitter
- BEGAIN p.Gly537Arg Uncertain significance Single submitter
- BEGAIN p.Gly537Glu Uncertain significance Single submitter
- BEGAIN p.Gly544Arg Uncertain significance Single submitter
- BEGAIN p.Gly592Val Uncertain significance Single submitter
- BEGAIN p.Ile245Val Uncertain significance Single submitter
- BEGAIN p.Ile60Thr Uncertain significance Single submitter
- BEGAIN p.Leu206Pro Uncertain significance Single submitter
- BEGAIN p.Leu486Val Uncertain significance Single submitter
- BEGAIN p.Leu506Pro Uncertain significance Single submitter
- BEGAIN p.Met177Leu Uncertain significance Single submitter
- BEGAIN p.Pro191Arg Uncertain significance Single submitter
- BEGAIN p.Pro239Ser Uncertain significance Single submitter
- BEGAIN p.Pro240Ala Uncertain significance Single submitter
- BEGAIN p.Pro358Leu Uncertain significance Single submitter
- BEGAIN p.Pro413Ser Uncertain significance Single submitter
- BEGAIN p.Pro414Gln Uncertain significance Single submitter
- BEGAIN p.Pro439Leu Uncertain significance Single submitter
- BEGAIN p.Ser133Leu Uncertain significance Single submitter
- BEGAIN p.Ser392Thr Uncertain significance Single submitter
- BEGAIN p.Thr325Met Uncertain significance Single submitter
- BEGAIN p.Tyr98His Uncertain significance Single submitter
- BEGAIN p.Val201Ile Uncertain significance Single submitter
- BEGAIN p.Val375Leu Uncertain significance Single submitter
- BEGAIN p.Val545Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- BEGAIN p.Arg109Cys Uncertain significance Single submitter
- BEGAIN p.Arg389Trp Uncertain significance Single submitter
- BEGAIN p.Glu45Lys Uncertain significance Single submitter
- BEGAIN p.Gly181Asp Uncertain significance Single submitter
- BEGAIN p.Leu62Arg Uncertain significance Single submitter
- BEGAIN p.Met84Ile Uncertain significance Single submitter
- BEGAIN p.Phe387Leu Uncertain significance Single submitter
- BEGAIN p.Thr250Ile Uncertain significance Single submitter
All BEGAIN variants
Benign 3
- p.Asp195Asn Multiple submitters
- p.Pro237Gln Multiple submitters
- p.Pro530= Single submitter
Likely benign 1
- p.Gly311Ala Single submitter
Uncertain significance 71
- p.Gly388Arg Multiple submitters Marfanoid habitus and intellectual disability ⚠
- p.Ala194Ser Single submitter ⚠
- p.Ala221Gly Single submitter ⚠
- p.Ala285Gly Single submitter ⚠
- p.Ala339Thr Single submitter ⚠
- p.Ala454Pro Single submitter ⚠
- p.Ala471Pro Single submitter ⚠
- p.Ala571Gly Single submitter ⚠
- p.Arg109Cys Single submitter ⚠
- p.Arg109His Single submitter ⚠
- p.Arg172Cys Single submitter ⚠
- p.Arg217Leu Single submitter ⚠
- p.Arg260Pro Single submitter ⚠
- p.Arg262Trp Single submitter ⚠
- p.Arg277Pro Single submitter ⚠
- p.Arg389Trp Single submitter ⚠
- p.Arg400Cys Single submitter ⚠
- p.Arg457Cys Single submitter ⚠
- p.Arg524His Single submitter ⚠
- p.Arg589Gln Single submitter ⚠
- p.Arg589Gly Single submitter ⚠
- p.Arg589Trp Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asp220Asn Single submitter ⚠
- p.Asp267Gly Single submitter ⚠
- p.Asp517Asn Single submitter ⚠
- p.Asp95Asn Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu257Asp Single submitter ⚠
- p.Glu290Val Single submitter ⚠
- p.Glu380Lys Single submitter ⚠
- p.Glu382Lys Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Glu536Asp Single submitter ⚠
- p.Gly157Ser Single submitter ⚠
- p.Gly181Asp Single submitter ⚠
- p.Gly406Asp Single submitter ⚠
- p.Gly469Val Single submitter ⚠
- p.Gly470Val Single submitter ⚠
- p.Gly472Arg Single submitter ⚠
- p.Gly537Ala Single submitter ⚠
- p.Gly537Arg Single submitter ⚠
- p.Gly537Glu Single submitter ⚠
- p.Gly544Arg Single submitter ⚠
- p.Gly592Val Single submitter ⚠
- p.Ile245Val Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Leu206Pro Single submitter ⚠
- p.Leu486Val Single submitter ⚠
- p.Leu506Pro Single submitter ⚠
- p.Leu62Arg Single submitter ⚠
- p.Met177Leu Single submitter ⚠
- p.Met84Ile Single submitter ⚠
- p.Phe387Leu Single submitter ⚠
- p.Pro191Arg Single submitter ⚠
- p.Pro239Ser Single submitter ⚠
- p.Pro240Ala Single submitter ⚠
- p.Pro255Arg Single submitter
- p.Pro358Leu Single submitter ⚠
- p.Pro413Ser Single submitter ⚠
- p.Pro414Gln Single submitter ⚠
- p.Pro439Leu Single submitter ⚠
- p.Ser133Leu Single submitter ⚠
- p.Ser392Thr Single submitter ⚠
- p.Thr250Ile Single submitter ⚠
- p.Thr325Met Single submitter ⚠
- p.Tyr98His Single submitter ⚠
- p.Val201Ile Single submitter ⚠
- p.Val375Leu Single submitter ⚠
- p.Val545Leu Single submitter ⚠