AGAP6 — 132 ClinVar variants

All ClinVar germline AGAP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

1 Benign · 5 Likely benign · 126 Uncertain significance

Full AGAP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 46

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 78

The independent predictors disagree with each other — read with care.

All AGAP6 variants

Benign 1

p.Lys264fs Single submitter

Likely benign 5

p.Arg137His Single submitter
p.Arg68Ser Single submitter
p.Leu144Ser Single submitter
p.Thr31Ile Single submitter
p.Val49= Single submitter

Uncertain significance 126

p.Ala105Thr Single submitter ⚠
p.Ala109Thr Single submitter ⚠
p.Ala135Val Single submitter ⚠
p.Ala180Gly Single submitter ⚠
p.Ala425Thr Single submitter ⚠
p.Ala433Val Single submitter ⚠
p.Ala43Ser Single submitter ⚠
p.Ala444Pro Single submitter ⚠
p.Ala596Pro Single submitter ⚠
p.Ala640Glu Single submitter ⚠
p.Ala655Thr Single submitter ⚠
p.Ala664Asp Single submitter ⚠
p.Ala664Thr Single submitter ⚠
p.Ala664Val Single submitter ⚠
p.Ala667Thr Single submitter ⚠
p.Arg126Ser Single submitter ⚠
p.Arg246Gln Single submitter ⚠
p.Arg280Gly Single submitter ⚠
p.Arg292Gln Single submitter ⚠
p.Arg39Lys Single submitter ⚠
p.Arg507His Single submitter ⚠
p.Arg515Cys Single submitter ⚠
p.Arg515His Single submitter ⚠
p.Arg517Gln Single submitter ⚠
p.Arg565Gly Single submitter ⚠
p.Arg565Trp Single submitter ⚠
p.Arg568Cys Single submitter ⚠
p.Arg568His Single submitter ⚠
p.Arg593Gln Single submitter ⚠
p.Arg633Cys Single submitter ⚠
p.Arg633His Single submitter ⚠
p.Arg665Gln Single submitter ⚠
p.Arg665Trp Single submitter ⚠
p.Arg70Trp Single submitter ⚠
p.Arg8His Single submitter ⚠
p.Asn106Ser Single submitter ⚠
p.Asn541Asp Single submitter ⚠
p.Asn636Lys Single submitter ⚠
p.Asn79Lys Single submitter
p.Asp18Val Single submitter ⚠
p.Asp228Val Single submitter ⚠
p.Asp263Glu Single submitter ⚠
p.Asp599Gly Single submitter ⚠
p.Cys482Tyr Single submitter ⚠
p.Gln157His Single submitter ⚠
p.Gln226Arg Single submitter ⚠
p.Gln447Leu Single submitter ⚠
p.Gln468Pro Single submitter ⚠
p.Gln95Glu Single submitter
p.Glu16Ala Single submitter ⚠
p.Glu16Asp Single submitter ⚠
p.Glu30Gln Single submitter ⚠
p.Glu430Lys Single submitter ⚠
p.Glu556Lys Single submitter ⚠
p.Glu556Val Single submitter ⚠
p.Glu572Lys Single submitter ⚠
p.Glu57Lys Single submitter ⚠
p.Glu617Lys Single submitter ⚠
p.Glu74Gln Single submitter ⚠
p.Gly208Arg Single submitter ⚠
p.Gly277Arg Single submitter ⚠
p.Gly35Arg Single submitter ⚠
p.Gly59Asp Single submitter ⚠
p.Gly620Arg Single submitter ⚠
p.Gly624Ser Single submitter ⚠
p.Gly635Glu Single submitter ⚠
p.Gly647Arg Single submitter ⚠
p.His629Tyr Single submitter ⚠
p.Ile112Val Single submitter ⚠
p.Ile175Val Single submitter ⚠
p.Ile338Leu Single submitter ⚠
p.Ile535Val Single submitter ⚠
p.Ile673Val Single submitter ⚠
p.Leu333His Single submitter ⚠
p.Leu389Ile Single submitter ⚠
p.Leu591Val Single submitter ⚠
p.Leu592Met Single submitter ⚠
p.Leu677Pro Single submitter ⚠
p.Lys324Glu Single submitter ⚠
p.Lys339Asn Single submitter ⚠
p.Met202Ile Single submitter ⚠
p.Met40Leu Single submitter ⚠
p.Met45Thr Single submitter ⚠
p.Met473Thr Single submitter ⚠
p.Met498Thr Single submitter ⚠
p.Met532Ile Single submitter ⚠
p.Met64Val Single submitter ⚠
p.Met72Val Single submitter ⚠
p.Phe149Ser Single submitter ⚠
p.Pro240Ala Single submitter ⚠
p.Pro240His Single submitter ⚠
p.Pro354Ser Single submitter ⚠
p.Pro393His Single submitter ⚠
p.Pro682Arg Single submitter ⚠
p.Ser12Thr Single submitter ⚠
p.Ser216Thr Single submitter ⚠
p.Ser217Pro Single submitter ⚠
p.Ser256Phe Single submitter ⚠
p.Ser29Tyr Single submitter ⚠
p.Ser346Phe Single submitter ⚠
p.Ser346Thr Single submitter ⚠
p.Ser360Asn Single submitter ⚠
p.Ser374Tyr Single submitter ⚠
p.Ser386Ile Single submitter ⚠
p.Ser440Cys Single submitter ⚠
p.Ser460Gly Single submitter ⚠
p.Ser469Leu Single submitter ⚠
p.Ser508Asn Single submitter ⚠
p.Ser508Gly Single submitter ⚠
p.Thr236Ala Single submitter ⚠
p.Thr241Met Single submitter ⚠
p.Thr335Ala Single submitter ⚠
p.Thr427Met Single submitter ⚠
p.Thr595Ala Single submitter ⚠
p.Thr602Ile Single submitter ⚠
p.Thr618Ser Single submitter ⚠
p.Trp300Arg Single submitter ⚠
p.Tyr663Cys Single submitter ⚠
p.Val13Ile Single submitter ⚠
p.Val305Leu Single submitter ⚠
p.Val496Ile Single submitter ⚠
p.Val526Ile Single submitter ⚠
p.Val536Gly Single submitter ⚠
p.Val615Met Single submitter ⚠
p.Val637Met Single submitter ⚠
p.Val650Ile Single submitter ⚠