TM4SF20 — 101 ClinVar variants

All ClinVar germline TM4SF20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →

1 Pathogenic · 1 Conflicting · 8 Benign · 24 Likely benign · 67 Uncertain significance

Full TM4SF20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 58

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

TM4SF20 p.Leu99Val Conflicting Single submitter

Predictors lean, ClinVar uncertain 48

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

Predictors split 9

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

All TM4SF20 variants

Pathogenic 1

c.249+769_401+102del Single submitter specific language impairment 5

Conflicting classifications of pathogenicity 1

p.Leu99Val Single submitter ⚠

Benign 8

p.Ala27Val Multiple submitters
p.Asn125Ser Multiple submitters
p.Leu25= Multiple submitters
p.Leu89Phe Multiple submitters
p.Lys223Thr Multiple submitters
p.Val191Ala Multiple submitters
p.Ile212= Single submitter
p.Leu218= Single submitter

Likely benign 24

c.250-13T>C Multiple submitters
p.Gly213= Multiple submitters
p.Ile28Thr Multiple submitters
c.183+17T>C Single submitter
c.250-9A>C Single submitter
c.401+10T>C Single submitter
c.402-17T>C Single submitter
p.Ala27= Single submitter
p.Ala76= Single submitter
p.Asn163= Single submitter
p.Asn26Ser Single submitter
p.Cys4= Single submitter
p.Gln227Arg Single submitter
p.Ile187Val Single submitter specific language impairment 5
p.Ile200= Single submitter
p.Leu103= Single submitter
p.Leu89= Single submitter
p.Met166Thr Single submitter
p.Phe141= Single submitter
p.Phe52Leu Single submitter ⚠
p.Ser162= Single submitter
p.Ser9Ala Single submitter
p.Val221= Single submitter
p.Val229= Single submitter

Uncertain significance 67

c.250-2A>G Multiple submitters
p.Arg75Ser Multiple submitters ⚠
p.Ile93Thr Multiple submitters ⚠
p.Ser91Gly Multiple submitters specific language impairment 5 ⚠
p.Trp170Ter Multiple submitters specific language impairment 5
p.Val221Ile Multiple submitters ⚠
c.250-11T>G Single submitter
c.402-2A>G Single submitter
p.Ala108fs Single submitter
p.Ala167Val Single submitter ⚠
p.Ala172Thr Single submitter ⚠
p.Arg171Lys Single submitter ⚠
p.Arg171Ser Single submitter ⚠
p.Arg224Gln Single submitter ⚠
p.Arg225Ile Single submitter ⚠
p.Asn117Tyr Single submitter ⚠
p.Asn11Ser Single submitter ⚠
p.Asn148Ser Single submitter ⚠
p.Asn182Lys Single submitter ⚠
p.Asp164Glu Single submitter ⚠
p.Asp178Asn Single submitter ⚠
p.Asp178Val Single submitter ⚠
p.Glu139Asp Single submitter ⚠
p.Glu5Lys Single submitter ⚠
p.Gly156Ser Single submitter ⚠
p.Gly199Arg Single submitter ⚠
p.Gly213Ser Single submitter
p.Gly220Arg Single submitter ⚠
p.His137Gln Single submitter ⚠
p.His188Tyr Single submitter ⚠
p.Ile200_Glu202del Single submitter
p.Ile45Thr Single submitter
p.Ile96Thr Single submitter ⚠
p.Leu103Val Single submitter ⚠
p.Leu197Phe Single submitter TM4SF20-related disorder ⚠
p.Leu201Val Single submitter ⚠
p.Leu204Met Single submitter ⚠
p.Leu207Phe Single submitter ⚠
p.Leu218Pro Single submitter ⚠
p.Leu25Val Single submitter ⚠
p.Leu34Phe Single submitter ⚠
p.Lys183fs Single submitter
p.Met166Ile Single submitter ⚠
p.Phe13Leu Single submitter ⚠
p.Phe177Leu Single submitter ⚠
p.Pro153Ser Single submitter TM4SF20-related disorder ⚠
p.Pro29Ser Single submitter ⚠
p.Pro29Thr Single submitter ⚠
p.Pro44Ser Single submitter ⚠
p.Ser120Thr Single submitter ⚠
p.Ser150Pro Single submitter ⚠
p.Ser173Thr Single submitter ⚠
p.Ser190Ter Single submitter
p.Ser226Arg Single submitter ⚠
p.Ser33Gly Single submitter ⚠
p.Ser41Phe Single submitter ⚠
p.Ser88Pro Single submitter ⚠
p.Thr155Ala Single submitter ⚠
p.Trp7Leu Single submitter ⚠
p.Tyr100Phe Single submitter ⚠
p.Val191Ile Single submitter ⚠
p.Val191Leu Single submitter specific language impairment 5 ⚠
p.Val198Asp Single submitter ⚠
p.Val203Phe Single submitter ⚠
p.Val24Ile Single submitter ⚠
p.Val35Asp Single submitter ⚠
p.Val92_Ile93insTer Single submitter