SLC30A5 — 79 ClinVar variants
All ClinVar germline SLC30A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
2 Likely pathogenic · 5 Benign · 2 Likely benign · 70 Uncertain significance
Full SLC30A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC30A5 p.Ala334Val Uncertain significance Single submitter
- SLC30A5 p.Ala550Val Uncertain significance Single submitter
- SLC30A5 p.Arg236Cys Uncertain significance Single submitter
- SLC30A5 p.Arg368Thr Uncertain significance Single submitter
- SLC30A5 p.Arg510Thr Uncertain significance Single submitter
- SLC30A5 p.Asp230Asn Uncertain significance Single submitter
- SLC30A5 p.Asp622Val Uncertain significance Single submitter
- SLC30A5 p.Cys555Ser Uncertain significance Single submitter
- SLC30A5 p.Gln397Arg Uncertain significance Single submitter
- SLC30A5 p.Gln646Arg Uncertain significance Single submitter
- SLC30A5 p.Glu659Asp Uncertain significance Single submitter
- SLC30A5 p.Gly305Val Uncertain significance Single submitter
- SLC30A5 p.Gly376Glu Uncertain significance Single submitter
- SLC30A5 p.Gly482Arg Uncertain significance Single submitter
- SLC30A5 p.Gly482Ser Uncertain significance Single submitter
- SLC30A5 p.His242Leu Uncertain significance Single submitter
- SLC30A5 p.His572Asn Uncertain significance Single submitter
- SLC30A5 p.His694Asp Uncertain significance Single submitter
- SLC30A5 p.Ile104Met Uncertain significance Single submitter
- SLC30A5 p.Ile133Leu Uncertain significance Single submitter
- SLC30A5 p.Ile33Val Uncertain significance Single submitter
- SLC30A5 p.Ile491Val Uncertain significance Single submitter
- SLC30A5 p.Ile497Thr Uncertain significance Single submitter
- SLC30A5 p.Ile670Met Uncertain significance Single submitter
- SLC30A5 p.Ile670Thr Uncertain significance Single submitter
- SLC30A5 p.Leu249Val Uncertain significance Single submitter
- SLC30A5 p.Leu411Ile Uncertain significance Single submitter
- SLC30A5 p.Leu511Met Uncertain significance Single submitter
- SLC30A5 p.Leu627Val Uncertain significance Single submitter
- SLC30A5 p.Lys300Arg Uncertain significance Single submitter
- SLC30A5 p.Lys728Glu Uncertain significance Single submitter
- SLC30A5 p.Lys89Gln Uncertain significance Single submitter
- SLC30A5 p.Met172Val Uncertain significance Single submitter
- SLC30A5 p.Met272Lys Uncertain significance Single submitter
- SLC30A5 p.Met331Val Uncertain significance Single submitter
- SLC30A5 p.Met388Thr Uncertain significance Single submitter
- SLC30A5 p.Phe73Ser Uncertain significance Single submitter
- SLC30A5 p.Ser137Thr Uncertain significance Single submitter
- SLC30A5 p.Ser142Asn Uncertain significance Single submitter
- SLC30A5 p.Ser366Thr Uncertain significance Single submitter
- SLC30A5 p.Ser447Leu Uncertain significance Single submitter
- SLC30A5 p.Ser478Phe Uncertain significance Single submitter
- SLC30A5 p.Ser561Asn Uncertain significance Single submitter
- SLC30A5 p.Thr193Ala Uncertain significance Single submitter
- SLC30A5 p.Thr740Ala Uncertain significance Single submitter
- SLC30A5 p.Thr86Ala Uncertain significance Single submitter
- SLC30A5 p.Val207Ile Uncertain significance Single submitter
- SLC30A5 p.Val229Leu Uncertain significance Single submitter
- SLC30A5 p.Val231Ile Uncertain significance Single submitter
- SLC30A5 p.Val288Met Uncertain significance Single submitter
- SLC30A5 p.Val608Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- SLC30A5 p.Ala621Thr Uncertain significance Single submitter
- SLC30A5 p.Arg475Pro Uncertain significance Single submitter
- SLC30A5 p.Cys216Tyr Uncertain significance Single submitter
- SLC30A5 p.Gln409His Uncertain significance Single submitter
- SLC30A5 p.Gln78Arg Uncertain significance Single submitter
- SLC30A5 p.Gly573Arg Uncertain significance Single submitter
- SLC30A5 p.His548Arg Uncertain significance Single submitter
- SLC30A5 p.His562Tyr Uncertain significance Single submitter
- SLC30A5 p.Leu122Ser Uncertain significance Single submitter
- SLC30A5 p.Met296Thr Uncertain significance Single submitter
- SLC30A5 p.Met585Val Uncertain significance Single submitter
- SLC30A5 p.Phe501Leu Uncertain significance Single submitter
- SLC30A5 p.Trp109Cys Uncertain significance Single submitter
- SLC30A5 p.Tyr481Cys Uncertain significance Single submitter
- SLC30A5 p.Val231Ala Uncertain significance Single submitter
All SLC30A5 variants
Likely pathogenic 2
- p.His661fs Single submitter hydrops fetalis
- p.Ile278fs Single submitter hypertrophic cardiomyopathy
Benign 5
- c.206+7G>A Multiple submitters
- p.Arg483Gln Multiple submitters
- p.Gly69= Multiple submitters
- p.Val719= Multiple submitters
- c.206+17dup Single submitter
Likely benign 2
- p.Gly583Arg Single submitter
- p.Ser414Asn Single submitter
Uncertain significance 70
- p.Ala334Val Single submitter ⚠
- p.Ala550Val Single submitter ⚠
- p.Ala621Thr Single submitter ⚠
- p.Arg236Cys Single submitter ⚠
- p.Arg368Thr Single submitter ⚠
- p.Arg475Pro Single submitter ⚠
- p.Arg510Thr Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Asp622Val Single submitter ⚠
- p.Cys216Tyr Single submitter ⚠
- p.Cys555Ser Single submitter ⚠
- p.Gln397Arg Single submitter ⚠
- p.Gln409His Single submitter ⚠
- p.Gln646Arg Single submitter ⚠
- p.Gln78Arg Single submitter ⚠
- p.Glu659Asp Single submitter ⚠
- p.Gly305Val Single submitter ⚠
- p.Gly376Glu Single submitter ⚠
- p.Gly482Arg Single submitter ⚠
- p.Gly482Ser Single submitter ⚠
- p.Gly573Arg Single submitter ⚠
- p.His242Leu Single submitter ⚠
- p.His548Arg Single submitter ⚠
- p.His562Tyr Single submitter ⚠
- p.His572Asn Single submitter ⚠
- p.His694Asp Single submitter ⚠
- p.Ile104Met Single submitter ⚠
- p.Ile133Leu Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Ile491Val Single submitter ⚠
- p.Ile497Thr Single submitter ⚠
- p.Ile670Met Single submitter ⚠
- p.Ile670Thr Single submitter ⚠
- p.Leu122Ser Single submitter ⚠
- p.Leu171His Single submitter
- p.Leu240Ter Single submitter
- p.Leu249Val Single submitter ⚠
- p.Leu384Val Single submitter
- p.Leu411Ile Single submitter ⚠
- p.Leu511Met Single submitter ⚠
- p.Leu627Val Single submitter ⚠
- p.Lys300Arg Single submitter ⚠
- p.Lys728Glu Single submitter ⚠
- p.Lys89Gln Single submitter ⚠
- p.Met172Val Single submitter ⚠
- p.Met272Lys Single submitter ⚠
- p.Met296Thr Single submitter ⚠
- p.Met331Val Single submitter ⚠
- p.Met388Thr Single submitter ⚠
- p.Met585Val Single submitter ⚠
- p.Phe501Leu Single submitter ⚠
- p.Phe73Ser Single submitter ⚠
- p.Ser137Thr Single submitter ⚠
- p.Ser142Asn Single submitter ⚠
- p.Ser366Thr Single submitter ⚠
- p.Ser447Leu Single submitter ⚠
- p.Ser478Phe Single submitter ⚠
- p.Ser561Asn Single submitter ⚠
- p.Thr193Ala Single submitter ⚠
- p.Thr740Ala Single submitter ⚠
- p.Thr86Ala Single submitter ⚠
- p.Trp109Cys Single submitter ⚠
- p.Tyr481Cys Single submitter ⚠
- p.Val207Ile Single submitter ⚠
- p.Val229Leu Single submitter ⚠
- p.Val231Ala Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val288Met Single submitter ⚠
- p.Val608Ile Single submitter ⚠
- p.Val637Ile Single submitter