GTF2F1 — 97 ClinVar variants

All ClinVar germline GTF2F1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

2 Benign · 5 Likely benign · 90 Uncertain significance

Full GTF2F1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 54

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

Predictors split 35

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

All GTF2F1 variants

Benign 2

c.899-9C>T Multiple submitters
p.Thr122= Single submitter

Likely benign 5

c.837-2A>G Single submitter
p.Ala392Thr Single submitter
p.Gly450= Single submitter
p.Ile113= Single submitter
p.Ser7Gly Single submitter

Uncertain significance 90

p.Ala257Asp Single submitter ⚠
p.Ala33Val Single submitter ⚠
p.Ala3Ser Single submitter ⚠
p.Arg153His Single submitter ⚠
p.Arg180Gln Single submitter ⚠
p.Arg180Trp Single submitter ⚠
p.Arg197Cys Single submitter ⚠
p.Arg197His Single submitter ⚠
p.Arg199His Single submitter ⚠
p.Arg206Cys Single submitter ⚠
p.Arg337Cys Single submitter ⚠
p.Arg386Cys Single submitter ⚠
p.Arg386Pro Single submitter ⚠
p.Arg402Gln Single submitter ⚠
p.Arg402Trp Single submitter ⚠
p.Arg422Gln Single submitter ⚠
p.Arg460Cys Single submitter ⚠
p.Arg460His Single submitter ⚠
p.Arg499Gln Single submitter ⚠
p.Arg504His Single submitter ⚠
p.Arg504Ser Single submitter ⚠
p.Arg73His Single submitter ⚠
p.Arg92Gln Single submitter ⚠
p.Asn103Lys Single submitter ⚠
p.Asn10His Single submitter ⚠
p.Asn508Ser Single submitter ⚠
p.Asp188Gly Single submitter ⚠
p.Asp209Ala Single submitter ⚠
p.Asp219Asn Single submitter ⚠
p.Asp219His Single submitter
p.Asp254Glu Single submitter ⚠
p.Asp262Asn Single submitter ⚠
p.Asp262Glu Single submitter ⚠
p.Asp302Asn Single submitter ⚠
p.Asp50Asn Single submitter ⚠
p.Gln179Arg Single submitter ⚠
p.Gln293Lys Single submitter ⚠
p.Glu189Gly Single submitter ⚠
p.Glu319Gly Single submitter ⚠
p.Glu326Lys Single submitter ⚠
p.Glu343Lys Single submitter ⚠
p.Glu350Asp Single submitter ⚠
p.Glu487Lys Single submitter ⚠
p.Glu517Lys Single submitter ⚠
p.Glu90Ala Single submitter ⚠
p.Glu94Lys Single submitter ⚠
p.Gly225Ala Single submitter ⚠
p.Gly277Ser Single submitter ⚠
p.Gly450Ser Single submitter ⚠
p.Gly66Cys Single submitter ⚠
p.Leu100Phe Single submitter ⚠
p.Leu149Pro Single submitter ⚠
p.Leu99Val Single submitter ⚠
p.Lys25Asn Single submitter ⚠
p.Lys321Glu Single submitter ⚠
p.Lys336Gln Single submitter ⚠
p.Lys339Glu Single submitter ⚠
p.Lys371Arg Single submitter ⚠
p.Lys421Arg Single submitter ⚠
p.Met274Ile Single submitter ⚠
p.Met274Val Single submitter ⚠
p.Met363Val Single submitter ⚠
p.Phe266Leu Single submitter ⚠
p.Pro239Gln Single submitter ⚠
p.Pro239Leu Single submitter ⚠
p.Pro316Leu Single submitter ⚠
p.Pro332Leu Single submitter ⚠
p.Pro332Ser Single submitter ⚠
p.Pro376Leu Single submitter ⚠
p.Pro438His Single submitter ⚠
p.Pro6Leu Single submitter ⚠
p.Ser217Leu Single submitter ⚠
p.Ser221Asn Single submitter ⚠
p.Ser261Asn Single submitter ⚠
p.Ser287Ile Single submitter ⚠
p.Ser287Thr Single submitter ⚠
p.Ser355Asn Single submitter ⚠
p.Ser377Leu Single submitter ⚠
p.Ser436Leu Single submitter ⚠
p.Ser52Arg Single submitter ⚠
p.Ser7Arg Single submitter ⚠
p.Ser7Thr Single submitter ⚠
p.Thr368Met Single submitter ⚠
p.Thr389Met Single submitter ⚠
p.Thr41Met Single submitter ⚠
p.Thr427Met Single submitter ⚠
p.Val102Ile Single submitter ⚠
p.Val118Ile Single submitter ⚠
p.Val301Ile Single submitter ⚠
p.Val492Leu Single submitter ⚠