SLC27A2 — 97 ClinVar variants

All ClinVar germline SLC27A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

1 Pathogenic · 7 Likely benign · 89 Uncertain significance

Full SLC27A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 61

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

Predictors split 20

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

All SLC27A2 variants

Pathogenic 1

p.Ala612fs No assertion criteria familial hypercholesterolemia

Likely benign 7

p.Ala375= Single submitter
p.Ala375Thr Single submitter
p.Ala63Val Single submitter
p.Gln444= Single submitter
p.Met236Val Single submitter
p.Ser614Asn Single submitter
p.Val579Met Single submitter

Uncertain significance 89

p.Ala140Val Single submitter ⚠
p.Ala270Thr Single submitter ⚠
p.Ala336Glu Single submitter ⚠
p.Ala336Thr Single submitter ⚠
p.Ala375Val Single submitter ⚠
p.Ala380Val Single submitter
p.Ala443Pro Single submitter ⚠
p.Ala591Pro Single submitter ⚠
p.Ala63Glu Single submitter
p.Arg289Gln Single submitter ⚠
p.Arg289Trp Single submitter
p.Arg329His Single submitter ⚠
p.Arg334Thr Single submitter
p.Arg342Gly Single submitter ⚠
p.Arg408Pro Single submitter ⚠
p.Arg41Gln Single submitter ⚠
p.Arg480Gly Single submitter ⚠
p.Arg486Trp Single submitter ⚠
p.Arg557Gln Single submitter ⚠
p.Arg574Cys Single submitter ⚠
p.Asn137Ser Single submitter ⚠
p.Asn473Ile Single submitter ⚠
p.Asp175His Single submitter ⚠
p.Asp176Val Single submitter ⚠
p.Asp196His Single submitter ⚠
p.Asp257Gly Single submitter ⚠
p.Asp404Asn Single submitter ⚠
p.Asp404Val Single submitter
p.Asp470Tyr Single submitter ⚠
p.Asp479Asn Single submitter ⚠
p.Asp479Val Single submitter ⚠
p.Asp538Gly Single submitter ⚠
p.Cys149Ser Single submitter ⚠
p.Gln310His Single submitter ⚠
p.Gln508Lys Single submitter ⚠
p.Glu405Lys Single submitter ⚠
p.Glu421Val Single submitter ⚠
p.Glu521Gly Single submitter ⚠
p.Glu77Asp Single submitter ⚠
p.Gly151Arg Single submitter ⚠
p.Gly253Arg Single submitter ⚠
p.Gly278Arg Single submitter ⚠
p.Gly412Glu Single submitter ⚠
p.Gly437Ser Single submitter ⚠
p.Gly522Asp Single submitter ⚠
p.His277Gln Single submitter ⚠
p.His471Asp Single submitter ⚠
p.His516Tyr Single submitter ⚠
p.Ile191Thr Single submitter ⚠
p.Ile280Thr Single submitter
p.Ile280Val Single submitter ⚠
p.Ile312Val Single submitter ⚠
p.Ile567Asn Single submitter ⚠
p.Leu315Arg Single submitter ⚠
p.Leu459Arg Single submitter ⚠
p.Leu503Pro Single submitter ⚠
p.Leu56Pro Single submitter ⚠
p.Leu72Arg Single submitter ⚠
p.Lys153Glu Single submitter ⚠
p.Lys173Gln Single submitter ⚠
p.Lys377Arg Single submitter ⚠
p.Lys540Arg Single submitter ⚠
p.Lys575Arg Single submitter ⚠
p.Lys69Glu Single submitter ⚠
p.Met131Val Single submitter ⚠
p.Met531Ile Single submitter ⚠
p.Phe194Ser Single submitter ⚠
p.Phe59Leu Single submitter ⚠
p.Pro205Ala Single submitter ⚠
p.Pro51Leu Single submitter ⚠
p.Pro585Thr Single submitter ⚠
p.Ser45Asn Single submitter ⚠
p.Ser88Asn Single submitter ⚠
p.Thr188Arg Single submitter ⚠
p.Thr249Ile Single submitter ⚠
p.Thr307Ile Single submitter ⚠
p.Thr484Ile Single submitter ⚠
p.Thr564Ile Single submitter ⚠
p.Thr577Ala Single submitter ⚠
p.Thr598Arg Single submitter ⚠
p.Thr80Asn Single submitter ⚠
p.Trp210Arg Single submitter ⚠
p.Trp243Leu Single submitter ⚠
p.Tyr180Cys Single submitter ⚠
p.Tyr261His Single submitter ⚠
p.Tyr32Cys Single submitter ⚠
p.Tyr460Cys Single submitter
p.Val251Ile Single submitter ⚠
p.Val517Met Single submitter