AGGF1 — 97 ClinVar variants

All ClinVar germline AGGF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →

1 Likely pathogenic · 4 Benign · 2 Benign/Likely benign · 9 Likely benign · 81 Uncertain significance

Full AGGF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 80

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 72

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

Predictors split 8

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

All AGGF1 variants

Likely pathogenic 1

p.Arg44_Glu45insSerCysLysArgGlnValArg Single submitter non-syndromic syndactyly

Benign 4

c.313+6T>C Multiple submitters
p.Met706Leu Multiple submitters
c.1845-4A>G Single submitter
p.Glu123Lys Single submitter

Benign/Likely benign 2

p.Glu133Lys Multiple submitters
p.Tyr382= Multiple submitters

Likely benign 9

p.Tyr112Cys Multiple submitters
p.Asn308Ser Single submitter
p.Ile342Val Single submitter
p.Leu582Val Single submitter
p.Lys140Glu Single submitter
p.Lys28= Single submitter
p.Pro490= Single submitter
p.Thr581Ala Single submitter
p.Tyr161Cys Single submitter

Uncertain significance 81

p.Ala314Thr Single submitter ⚠
p.Ala385Val Single submitter ⚠
p.Ala5Gly Single submitter ⚠
p.Ala685Thr Single submitter ⚠
p.Arg249Cys Single submitter ⚠
p.Arg255Gln Single submitter ⚠
p.Arg55Pro Single submitter ⚠
p.Arg594His Single submitter ⚠
p.Arg688Trp Single submitter ⚠
p.Arg80His Single submitter ⚠
p.Asn113Ser Single submitter ⚠
p.Asn170Ser Single submitter ⚠
p.Asn293Ser Single submitter ⚠
p.Asn328Asp Single submitter ⚠
p.Asn328Ser Single submitter ⚠
p.Asn340Thr Single submitter ⚠
p.Asn483Ser Single submitter ⚠
p.Asn584Lys Single submitter ⚠
p.Asn86Asp Single submitter ⚠
p.Asp271Glu Single submitter ⚠
p.Asp280Glu Single submitter ⚠
p.Asp401Gly Single submitter ⚠
p.Asp441Asn Single submitter ⚠
p.Asp463Glu Single submitter ⚠
p.Asp541Asn Single submitter ⚠
p.Asp619Gly Single submitter ⚠
p.Gln699Pro Single submitter ⚠
p.Gln70Arg Single submitter ⚠
p.Gln70Glu Single submitter ⚠
p.Glu288Gly Single submitter ⚠
p.Glu343Gln Single submitter ⚠
p.Glu509Lys Single submitter ⚠
p.Glu553Lys Single submitter ⚠
p.Glu695Val Single submitter ⚠
p.Glu92Gly Single submitter ⚠
p.Gly437Arg Single submitter ⚠
p.Gly623Asp Single submitter ⚠
p.Gly637Cys Single submitter ⚠
p.Gly659Asp Single submitter ⚠
p.Gly704Arg Single submitter ⚠
p.Gly711Arg Single submitter ⚠
p.His347Tyr Single submitter ⚠
p.His517Arg Single submitter ⚠
p.Ile350Val Single submitter ⚠
p.Ile386Val Single submitter ⚠
p.Ile410Val Single submitter ⚠
p.Ile415Val Single submitter ⚠
p.Ile565Thr Single submitter ⚠
p.Leu185Ser Single submitter ⚠
p.Leu488Phe Single submitter ⚠
p.Leu653Arg Single submitter ⚠
p.Lys40Asn Single submitter ⚠
p.Lys48Gln Single submitter ⚠
p.Lys87Arg Single submitter ⚠
p.Met630Ile Single submitter ⚠
p.Phe107Ser Single submitter ⚠
p.Pro100Leu Single submitter ⚠
p.Pro15Leu Single submitter ⚠
p.Pro262Leu Single submitter ⚠
p.Pro262Ser Single submitter ⚠
p.Pro518Leu Single submitter ⚠
p.Pro6Arg Single submitter ⚠
p.Pro6Gln Single submitter ⚠
p.Ser139Ala Single submitter ⚠
p.Ser171Leu Single submitter ⚠
p.Ser264fs Single submitter
p.Ser269Asn Single submitter ⚠
p.Ser283Phe Single submitter ⚠
p.Ser301Gly Single submitter ⚠
p.Ser329Gly Single submitter ⚠
p.Ser351Pro Single submitter ⚠
p.Ser600Arg Single submitter ⚠
p.Thr110Met Single submitter ⚠
p.Thr364Pro Single submitter ⚠
p.Thr445Ile Single submitter ⚠
p.Thr574Ala Single submitter ⚠
p.Thr647Met Single submitter ⚠
p.Thr696Ala Single submitter ⚠
p.Tyr224Cys Single submitter ⚠
p.Val115Ile Single submitter ⚠
p.Val498Ile Single submitter ⚠