AGFG1 — 55 ClinVar variants
All ClinVar germline AGFG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
7 Likely benign · 48 Uncertain significance
Full AGFG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AGFG1 p.Ala210Val Uncertain significance Single submitter
- AGFG1 p.Ala355Pro Uncertain significance Single submitter
- AGFG1 p.Ala438Gly Uncertain significance Single submitter
- AGFG1 p.Ala439Val Uncertain significance Single submitter
- AGFG1 p.Arg186Leu Uncertain significance Single submitter
- AGFG1 p.Asn228Ser Uncertain significance Single submitter
- AGFG1 p.Asn335Ser Uncertain significance Single submitter
- AGFG1 p.Asn454Ser Uncertain significance Single submitter
- AGFG1 p.Asn512Asp Uncertain significance Single submitter
- AGFG1 p.Gln188Glu Uncertain significance Single submitter
- AGFG1 p.Gln267Arg Uncertain significance Single submitter
- AGFG1 p.Gln452His Uncertain significance Single submitter
- AGFG1 p.Glu193Asp Uncertain significance Single submitter
- AGFG1 p.His305Asp Uncertain significance Single submitter
- AGFG1 p.Leu160Met Uncertain significance Single submitter
- AGFG1 p.Leu23Ile Uncertain significance Single submitter
- AGFG1 p.Lys114Arg Uncertain significance Single submitter
- AGFG1 p.Lys195Gln Uncertain significance Single submitter
- AGFG1 p.Lys290Gln Uncertain significance Single submitter
- AGFG1 p.Lys354Arg Uncertain significance Single submitter
- AGFG1 p.Phe116Ile Uncertain significance Single submitter
- AGFG1 p.Pro211Ser Uncertain significance Single submitter
- AGFG1 p.Pro426Leu Uncertain significance Single submitter
- AGFG1 p.Pro471Leu Uncertain significance Single submitter
- AGFG1 p.Ser229Thr Uncertain significance Single submitter
- AGFG1 p.Ser264Thr Uncertain significance Single submitter
- AGFG1 p.Ser420Leu Uncertain significance Single submitter
- AGFG1 p.Ser447Pro Uncertain significance Single submitter
- AGFG1 p.Thr271Ala Uncertain significance Single submitter
- AGFG1 p.Thr407Pro Uncertain significance Single submitter
- AGFG1 p.Thr416Ile Uncertain significance Single submitter
- AGFG1 p.Thr433Ile Uncertain significance Single submitter
- AGFG1 p.Thr476Ile Uncertain significance Single submitter
- AGFG1 p.Thr522Ile Uncertain significance Single submitter
- AGFG1 p.Thr558Ala Uncertain significance Single submitter
- AGFG1 p.Val314Leu Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- AGFG1 p.Ala241Val Uncertain significance Single submitter
- AGFG1 p.Gln503Arg Uncertain significance Single submitter
- AGFG1 p.Ile336Thr Uncertain significance Single submitter
- AGFG1 p.Leu23Phe Uncertain significance Single submitter
- AGFG1 p.Met42Val Uncertain significance Single submitter
- AGFG1 p.Phe282Tyr Uncertain significance Single submitter
- AGFG1 p.Pro24Leu Uncertain significance Single submitter
- AGFG1 p.Ser215Leu Uncertain significance Single submitter
- AGFG1 p.Ser402Arg Uncertain significance Single submitter
- AGFG1 p.Val136Leu Uncertain significance Single submitter
All AGFG1 variants
Likely benign 7
- c.814+958T>C Single submitter
- p.Ala393= Single submitter
- p.Gly350= Single submitter
- p.Pro511= Single submitter
- p.Thr316Ala Single submitter
- p.Thr472Ala Single submitter
- p.Val139Ala Single submitter
Uncertain significance 48
- c.814+955G>A Single submitter
- p.Ala210Val Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala355Pro Single submitter ⚠
- p.Ala438Gly Single submitter ⚠
- p.Ala439Val Single submitter ⚠
- p.Arg186Leu Single submitter ⚠
- p.Asn228Ser Single submitter ⚠
- p.Asn335Ser Single submitter ⚠
- p.Asn454Ser Single submitter ⚠
- p.Asn512Asp Single submitter ⚠
- p.Gln188Glu Single submitter ⚠
- p.Gln267Arg Single submitter ⚠
- p.Gln452His Single submitter ⚠
- p.Gln503Arg Single submitter ⚠
- p.Glu193Asp Single submitter ⚠
- p.His305Asp Single submitter ⚠
- p.Ile336Thr Single submitter ⚠
- p.Leu160Met Single submitter ⚠
- p.Leu23Ile Single submitter ⚠
- p.Leu23Phe Single submitter ⚠
- p.Lys114Arg Single submitter ⚠
- p.Lys195Gln Single submitter ⚠
- p.Lys290Gln Single submitter ⚠
- p.Lys313fs Single submitter
- p.Lys354Arg Single submitter ⚠
- p.Met42Val Single submitter ⚠
- p.Phe116Ile Single submitter ⚠
- p.Phe282Tyr Single submitter ⚠
- p.Pro211Ser Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro426Leu Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Ser215Leu Single submitter ⚠
- p.Ser229Thr Single submitter ⚠
- p.Ser264Thr Single submitter ⚠
- p.Ser402Arg Single submitter ⚠
- p.Ser420Leu Single submitter ⚠
- p.Ser447Pro Single submitter ⚠
- p.Thr271Ala Single submitter ⚠
- p.Thr407Pro Single submitter ⚠
- p.Thr416Ile Single submitter ⚠
- p.Thr433Ile Single submitter ⚠
- p.Thr476Ile Single submitter ⚠
- p.Thr522Ile Single submitter ⚠
- p.Thr558Ala Single submitter ⚠
- p.Val136Leu Single submitter ⚠
- p.Val314Leu Single submitter ⚠