TM9SF4 — 52 ClinVar variants
All ClinVar germline TM9SF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
4 Likely benign · 48 Uncertain significance
Full TM9SF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TM9SF4 p.Ala443Val Uncertain significance Single submitter
- TM9SF4 p.Arg119Gln Uncertain significance Single submitter
- TM9SF4 p.Arg191Gln Uncertain significance Single submitter
- TM9SF4 p.Arg203His Uncertain significance Single submitter
- TM9SF4 p.Arg206Cys Uncertain significance Single submitter
- TM9SF4 p.Arg303Gln Uncertain significance Single submitter
- TM9SF4 p.Arg399Cys Uncertain significance Single submitter
- TM9SF4 p.Arg399Leu Uncertain significance Single submitter
- TM9SF4 p.Arg408Trp Uncertain significance Single submitter
- TM9SF4 p.Arg499Gln Uncertain significance Single submitter
- TM9SF4 p.Arg566His Uncertain significance Single submitter
- TM9SF4 p.Asn137His Uncertain significance Single submitter
- TM9SF4 p.Asn592Thr Uncertain significance Single submitter
- TM9SF4 p.Asp173Asn Uncertain significance Single submitter
- TM9SF4 p.Gln65Arg Uncertain significance Single submitter
- TM9SF4 p.Glu116Lys Uncertain significance Single submitter
- TM9SF4 p.Glu195Lys Uncertain significance Single submitter
- TM9SF4 p.Glu97Lys Uncertain significance Single submitter
- TM9SF4 p.Gly368Val Uncertain significance Single submitter
- TM9SF4 p.Gly437Arg Uncertain significance Single submitter
- TM9SF4 p.Ile240Val Uncertain significance Single submitter
- TM9SF4 p.Ile427Val Uncertain significance Single submitter
- TM9SF4 p.Ile587Thr Uncertain significance Single submitter
- TM9SF4 p.Lys244Met Uncertain significance Single submitter
- TM9SF4 p.Met194Leu Uncertain significance Single submitter
- TM9SF4 p.Ser325Ala Uncertain significance Single submitter
- TM9SF4 p.Ser350Leu Uncertain significance Single submitter
- TM9SF4 p.Ser96Gly Uncertain significance Single submitter
-
TM9SF4 p.Tyr188His
Uncertain significance
Single submitter
TM9SF4-related disorder
- TM9SF4 p.Val161Leu Uncertain significance Single submitter
- TM9SF4 p.Val334Ile Uncertain significance Single submitter
- TM9SF4 p.Val430Ile Uncertain significance Single submitter
- TM9SF4 p.Val444Met Uncertain significance Single submitter
- TM9SF4 p.Val464Ile Uncertain significance Single submitter
- TM9SF4 p.Val545Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- TM9SF4 p.Ala30Val Uncertain significance Single submitter
- TM9SF4 p.Ala513Thr Uncertain significance Single submitter
- TM9SF4 p.His180Gln Uncertain significance Single submitter
- TM9SF4 p.Leu12Ser Uncertain significance Single submitter
- TM9SF4 p.Phe185Leu Uncertain significance Single submitter
- TM9SF4 p.Ser213Asn Uncertain significance Single submitter
- TM9SF4 p.Tyr252Phe Uncertain significance Single submitter
- TM9SF4 p.Tyr477His Uncertain significance Single submitter
- TM9SF4 p.Tyr59Phe Uncertain significance Single submitter
- TM9SF4 p.Val632Ala Uncertain significance Single submitter
All TM9SF4 variants
Likely benign 4
- p.Arg215Lys Single submitter
- p.Gly349= Single submitter
- p.Gly471Ser Single submitter autism spectrum disorder
- p.Phe511= Single submitter
Uncertain significance 48
- p.Ala30Val Single submitter ⚠
- p.Ala443Val Single submitter ⚠
- p.Ala513Thr Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg191Gln Single submitter ⚠
- p.Arg203His Single submitter ⚠
- p.Arg206Cys Single submitter ⚠
- p.Arg303Gln Single submitter ⚠
- p.Arg399Cys Single submitter ⚠
- p.Arg399Leu Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg473Gln Single submitter
- p.Arg499Gln Single submitter ⚠
- p.Arg566His Single submitter ⚠
- p.Asn137His Single submitter ⚠
- p.Asn592Thr Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Gln65Arg Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu195Lys Single submitter ⚠
- p.Glu97Lys Single submitter ⚠
- p.Gly368Val Single submitter ⚠
- p.Gly437Arg Single submitter ⚠
- p.His180Gln Single submitter ⚠
- p.Ile240Val Single submitter ⚠
- p.Ile427Val Single submitter ⚠
- p.Ile587Thr Single submitter ⚠
- p.Leu12Ser Single submitter ⚠
- p.Lys244Met Single submitter ⚠
- p.Met194Leu Single submitter ⚠
- p.Phe185Leu Single submitter ⚠
- p.Pro337Thr Single submitter
- p.Ser213Asn Single submitter ⚠
- p.Ser325Ala Single submitter ⚠
- p.Ser350Leu Single submitter ⚠
- p.Ser96Gly Single submitter ⚠
- p.Tyr188His Single submitter TM9SF4-related disorder ⚠
- p.Tyr252Phe Single submitter ⚠
- p.Tyr477His Single submitter ⚠
- p.Tyr59Phe Single submitter ⚠
- p.Val161Leu Single submitter ⚠
- p.Val334Ile Single submitter ⚠
- p.Val430Ile Single submitter ⚠
- p.Val444Met Single submitter ⚠
- p.Val464Ile Single submitter ⚠
- p.Val545Met Single submitter ⚠
- p.Val632Ala Single submitter ⚠
- p.Pro211Ala No assertion criteria TM9SF4-related disorder