FASTKD1 — 123 ClinVar variants
All ClinVar germline FASTKD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →
1 Pathogenic · 2 Benign · 9 Likely benign · 111 Uncertain significance
Full FASTKD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 110
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.
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FASTKD1 p.Tyr744Asn
Pathogenic
No assertion criteria
Glaucoma 1, open angle, B
Predictors lean, ClinVar uncertain 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FASTKD1 p.Ala177Asp Uncertain significance Single submitter
- FASTKD1 p.Ala522Thr Uncertain significance Single submitter
- FASTKD1 p.Ala61Gly Uncertain significance Single submitter
- FASTKD1 p.Ala621Asp Uncertain significance Single submitter
- FASTKD1 p.Ala750Val Uncertain significance Single submitter
- FASTKD1 p.Arg17Cys Uncertain significance Single submitter
- FASTKD1 p.Arg244Leu Uncertain significance Single submitter
- FASTKD1 p.Arg421His Uncertain significance Single submitter
- FASTKD1 p.Arg438Gln Uncertain significance Single submitter
- FASTKD1 p.Arg501Gln Uncertain significance Single submitter
- FASTKD1 p.Arg556Ser Uncertain significance Single submitter
- FASTKD1 p.Arg578Cys Uncertain significance Single submitter
- FASTKD1 p.Arg578Ser Uncertain significance Single submitter
- FASTKD1 p.Arg590Lys Uncertain significance Single submitter
- FASTKD1 p.Arg684His Uncertain significance Single submitter
- FASTKD1 p.Arg836Thr Uncertain significance Single submitter
- FASTKD1 p.Asp178Gly Uncertain significance Single submitter
- FASTKD1 p.Asp484Asn Uncertain significance Single submitter
- FASTKD1 p.Asp609His Uncertain significance Single submitter
- FASTKD1 p.Cys597Trp Uncertain significance Single submitter
- FASTKD1 p.Gln30Glu Uncertain significance Single submitter
- FASTKD1 p.Gln42Arg Uncertain significance Single submitter
- FASTKD1 p.Gln702Arg Uncertain significance Single submitter
- FASTKD1 p.Gln814Arg Uncertain significance Single submitter
- FASTKD1 p.Glu185Ala Uncertain significance Single submitter
- FASTKD1 p.Glu339Lys Uncertain significance Single submitter
- FASTKD1 p.Glu775Asp Uncertain significance Single submitter
- FASTKD1 p.Glu90Lys Uncertain significance Single submitter
- FASTKD1 p.Gly346Glu Uncertain significance Single submitter
- FASTKD1 p.Gly349Ala Uncertain significance Single submitter
- FASTKD1 p.Gly745Ala Uncertain significance Single submitter
- FASTKD1 p.His262Asp Uncertain significance Single submitter
- FASTKD1 p.His485Asn Uncertain significance Single submitter
- FASTKD1 p.His493Gln Uncertain significance Single submitter
- FASTKD1 p.His493Tyr Uncertain significance Single submitter
- FASTKD1 p.His600Leu Uncertain significance Single submitter
- FASTKD1 p.His747Arg Uncertain significance Single submitter
- FASTKD1 p.His95Arg Uncertain significance Single submitter
- FASTKD1 p.Ile200Val Uncertain significance Single submitter
- FASTKD1 p.Ile21Val Uncertain significance Single submitter
- FASTKD1 p.Ile223Val Uncertain significance Single submitter
- FASTKD1 p.Ile607Thr Uncertain significance Single submitter
- FASTKD1 p.Ile777Leu Uncertain significance Single submitter
- FASTKD1 p.Leu139Gln Uncertain significance Single submitter
- FASTKD1 p.Leu272His Uncertain significance Single submitter
- FASTKD1 p.Leu342Val Uncertain significance Single submitter
- FASTKD1 p.Leu366Pro Uncertain significance Single submitter
- FASTKD1 p.Leu480Val Uncertain significance Single submitter
- FASTKD1 p.Leu516Phe Uncertain significance Single submitter
- FASTKD1 p.Leu623Pro Uncertain significance Single submitter
- FASTKD1 p.Leu63Phe Uncertain significance Single submitter
- FASTKD1 p.Leu787Ile Uncertain significance Single submitter
- FASTKD1 p.Lys110Arg Uncertain significance Single submitter
- FASTKD1 p.Lys374Asn Uncertain significance Single submitter
- FASTKD1 p.Lys393Thr Uncertain significance Single submitter
- FASTKD1 p.Lys475Asn Uncertain significance Single submitter
- FASTKD1 p.Lys728Glu Uncertain significance Single submitter
- FASTKD1 p.Lys740Asn Uncertain significance Single submitter
- FASTKD1 p.Lys795Thr Uncertain significance Single submitter
- FASTKD1 p.Met173Thr Uncertain significance Single submitter
- FASTKD1 p.Met832Val Uncertain significance Single submitter
- FASTKD1 p.Phe387Ser Uncertain significance Single submitter
- FASTKD1 p.Phe55Val Uncertain significance Single submitter
- FASTKD1 p.Phe580Leu Uncertain significance Single submitter
- FASTKD1 p.Phe781Cys Uncertain significance Single submitter
- FASTKD1 p.Phe7Leu Uncertain significance Single submitter
- FASTKD1 p.Pro303Ala Uncertain significance Single submitter
- FASTKD1 p.Pro413Ser Uncertain significance Single submitter
- FASTKD1 p.Pro5Thr Uncertain significance Single submitter
- FASTKD1 p.Pro610Ala Uncertain significance Single submitter
- FASTKD1 p.Pro743Leu Uncertain significance Single submitter
- FASTKD1 p.Ser202Phe Uncertain significance Single submitter
- FASTKD1 p.Ser305Arg Uncertain significance Single submitter
- FASTKD1 p.Ser452Gly Uncertain significance Single submitter
- FASTKD1 p.Ser452Thr Uncertain significance Single submitter
- FASTKD1 p.Ser496Arg Uncertain significance Single submitter
- FASTKD1 p.Ser541Cys Uncertain significance Single submitter
- FASTKD1 p.Ser64Ala Uncertain significance Single submitter
- FASTKD1 p.Ser653Phe Uncertain significance Single submitter
- FASTKD1 p.Ser761Thr Uncertain significance Single submitter
- FASTKD1 p.Ser845Pro Uncertain significance Single submitter
- FASTKD1 p.Thr141Ile Uncertain significance Single submitter
- FASTKD1 p.Thr186Ser Uncertain significance Single submitter
- FASTKD1 p.Thr699Ile Uncertain significance Single submitter
- FASTKD1 p.Thr83Pro Uncertain significance Single submitter
- FASTKD1 p.Trp759Cys Uncertain significance Single submitter
- FASTKD1 p.Tyr373His Uncertain significance Single submitter
- FASTKD1 p.Val28Gly Uncertain significance Single submitter
- FASTKD1 p.Val416Leu Uncertain significance Single submitter
- FASTKD1 p.Val598Leu Uncertain significance Single submitter
- FASTKD1 p.Val717Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- FASTKD1 p.Ala105Gly Uncertain significance Single submitter
- FASTKD1 p.Arg811His Likely benign Single submitter
- FASTKD1 p.Arg831Trp Uncertain significance Single submitter
- FASTKD1 p.Asp151Val Uncertain significance Single submitter
- FASTKD1 p.Cys733Ser Uncertain significance Single submitter
- FASTKD1 p.Glu321Gly Uncertain significance Single submitter
- FASTKD1 p.His600Asp Uncertain significance Single submitter
- FASTKD1 p.Ile577Thr Uncertain significance Single submitter
- FASTKD1 p.Met351Ile Uncertain significance Single submitter
- FASTKD1 p.Ser201Pro Uncertain significance Single submitter
- FASTKD1 p.Ser417Pro Uncertain significance Single submitter
- FASTKD1 p.Ser424Pro Uncertain significance Single submitter
- FASTKD1 p.Ser496Ile Uncertain significance Single submitter
- FASTKD1 p.Thr382Pro Uncertain significance Single submitter
- FASTKD1 p.Thr723Met Uncertain significance Single submitter
- FASTKD1 p.Val241Phe Uncertain significance Single submitter
- FASTKD1 p.Val365Gly Uncertain significance Single submitter
- FASTKD1 p.Val68Met Uncertain significance Single submitter
All FASTKD1 variants
Pathogenic 1
- p.Tyr744Asn No assertion criteria Glaucoma 1, open angle, B ⚠
Benign 2
- p.Ser768Ter Multiple submitters
- p.Arg803fs Single submitter
Likely benign 9
- p.Arg488His Single submitter
- p.Arg501Trp Single submitter
- p.Arg811His Single submitter ⚠
- p.Asp530Glu Single submitter
- p.Asp697Asn Single submitter
- p.Glu538Gly Single submitter
- p.His526Arg Single submitter
- p.Ile521Val Single submitter
- p.Tyr91Cys Single submitter
Uncertain significance 111
- p.Ala105Gly Single submitter ⚠
- p.Ala177Asp Single submitter ⚠
- p.Ala522Thr Single submitter ⚠
- p.Ala61Gly Single submitter ⚠
- p.Ala621Asp Single submitter ⚠
- p.Ala750Val Single submitter ⚠
- p.Arg17Cys Single submitter ⚠
- p.Arg244Leu Single submitter ⚠
- p.Arg421His Single submitter ⚠
- p.Arg438Gln Single submitter ⚠
- p.Arg501Gln Single submitter ⚠
- p.Arg556Ser Single submitter ⚠
- p.Arg578Cys Single submitter ⚠
- p.Arg578Ser Single submitter ⚠
- p.Arg590Lys Single submitter ⚠
- p.Arg684His Single submitter ⚠
- p.Arg831Trp Single submitter ⚠
- p.Arg836Thr Single submitter ⚠
- p.Asp151Val Single submitter ⚠
- p.Asp178Gly Single submitter ⚠
- p.Asp484Asn Single submitter ⚠
- p.Asp609His Single submitter ⚠
- p.Cys597Trp Single submitter ⚠
- p.Cys733Ser Single submitter ⚠
- p.Gln30Glu Single submitter ⚠
- p.Gln42Arg Single submitter ⚠
- p.Gln702Arg Single submitter ⚠
- p.Gln814Arg Single submitter ⚠
- p.Glu185Ala Single submitter ⚠
- p.Glu321Gly Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Glu775Asp Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly346Glu Single submitter ⚠
- p.Gly349Ala Single submitter ⚠
- p.Gly745Ala Single submitter ⚠
- p.His262Asp Single submitter ⚠
- p.His485Asn Single submitter ⚠
- p.His493Gln Single submitter ⚠
- p.His493Tyr Single submitter ⚠
- p.His600Asp Single submitter ⚠
- p.His600Leu Single submitter ⚠
- p.His747Arg Single submitter ⚠
- p.His95Arg Single submitter ⚠
- p.Ile200Val Single submitter ⚠
- p.Ile21Val Single submitter ⚠
- p.Ile223Val Single submitter ⚠
- p.Ile577Thr Single submitter ⚠
- p.Ile607Thr Single submitter ⚠
- p.Ile777Leu Single submitter ⚠
- p.Leu139Gln Single submitter ⚠
- p.Leu272His Single submitter ⚠
- p.Leu342Val Single submitter ⚠
- p.Leu366Pro Single submitter ⚠
- p.Leu480Val Single submitter ⚠
- p.Leu516Phe Single submitter ⚠
- p.Leu623Pro Single submitter ⚠
- p.Leu63Phe Single submitter ⚠
- p.Leu787Ile Single submitter ⚠
- p.Lys110Arg Single submitter ⚠
- p.Lys374Asn Single submitter ⚠
- p.Lys393Thr Single submitter ⚠
- p.Lys475Asn Single submitter ⚠
- p.Lys728Glu Single submitter ⚠
- p.Lys740Asn Single submitter ⚠
- p.Lys795Thr Single submitter ⚠
- p.Met173Thr Single submitter ⚠
- p.Met351Ile Single submitter ⚠
- p.Met832Val Single submitter ⚠
- p.Phe387Ser Single submitter ⚠
- p.Phe53Ser Single submitter
- p.Phe55Val Single submitter ⚠
- p.Phe580Leu Single submitter ⚠
- p.Phe781Cys Single submitter ⚠
- p.Phe7Leu Single submitter ⚠
- p.Pro303Ala Single submitter ⚠
- p.Pro315His Single submitter
- p.Pro413Ser Single submitter ⚠
- p.Pro5Thr Single submitter ⚠
- p.Pro610Ala Single submitter ⚠
- p.Pro743Leu Single submitter ⚠
- p.Ser201Pro Single submitter ⚠
- p.Ser202Phe Single submitter ⚠
- p.Ser305Arg Single submitter ⚠
- p.Ser417Pro Single submitter ⚠
- p.Ser424Pro Single submitter ⚠
- p.Ser452Gly Single submitter ⚠
- p.Ser452Thr Single submitter ⚠
- p.Ser496Arg Single submitter ⚠
- p.Ser496Ile Single submitter ⚠
- p.Ser541Cys Single submitter ⚠
- p.Ser64Ala Single submitter ⚠
- p.Ser653Phe Single submitter ⚠
- p.Ser761Thr Single submitter ⚠
- p.Ser845Pro Single submitter ⚠
- p.Thr141Ile Single submitter ⚠
- p.Thr186Ser Single submitter ⚠
- p.Thr382Pro Single submitter ⚠
- p.Thr699Ile Single submitter ⚠
- p.Thr723Met Single submitter ⚠
- p.Thr83Pro Single submitter ⚠
- p.Trp759Cys Single submitter ⚠
- p.Tyr373His Single submitter ⚠
- p.Val241Phe Single submitter ⚠
- p.Val28Gly Single submitter ⚠
- p.Val365Gly Single submitter ⚠
- p.Val416Leu Single submitter ⚠
- p.Val598Leu Single submitter ⚠
- p.Val614Ala Single submitter
- p.Val68Met Single submitter ⚠
- p.Val717Ile Single submitter ⚠