SLC30A7 — 64 ClinVar variants
All ClinVar germline SLC30A7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 2 Benign · 8 Likely benign · 49 Uncertain significance
Full SLC30A7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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.
Predictors lean, ClinVar uncertain 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC30A7 p.His189Arg Uncertain significance Multiple submitters
- SLC30A7 p.Ile241Val Uncertain significance Multiple submitters
- SLC30A7 p.Trp58Arg Uncertain significance Multiple submitters
- SLC30A7 p.Ala119Asp Uncertain significance Single submitter
- SLC30A7 p.Ala186Thr Uncertain significance Single submitter
- SLC30A7 p.Ala362Thr Uncertain significance Single submitter
- SLC30A7 p.Ala375Val Uncertain significance Single submitter
- SLC30A7 p.Ala83Gly Uncertain significance Single submitter
- SLC30A7 p.Arg349Lys Uncertain significance Single submitter
- SLC30A7 p.Asn357Ser Uncertain significance Single submitter
- SLC30A7 p.Asn93Ser Uncertain significance Single submitter
- SLC30A7 p.Asp345Asn Uncertain significance Single submitter
- SLC30A7 p.Gln259Lys Uncertain significance Single submitter
- SLC30A7 p.Gln310Arg Uncertain significance Single submitter
- SLC30A7 p.Gln324Glu Uncertain significance Single submitter
- SLC30A7 p.Gly148Val Uncertain significance Single submitter
- SLC30A7 p.Gly56Ala Uncertain significance Single submitter
- SLC30A7 p.His137Tyr Uncertain significance Single submitter
- SLC30A7 p.His176Leu Uncertain significance Single submitter
- SLC30A7 p.His189Asp Uncertain significance Single submitter
- SLC30A7 p.Ile276Ser Uncertain significance Single submitter
- SLC30A7 p.Ile276Val Uncertain significance Single submitter
- SLC30A7 p.Ile283Phe Uncertain significance Single submitter
- SLC30A7 p.Leu183Val Uncertain significance Single submitter
- SLC30A7 p.Met257Val Uncertain significance Single submitter
- SLC30A7 p.Met264Lys Uncertain significance Single submitter
- SLC30A7 p.Pro221Leu Uncertain significance Single submitter
- SLC30A7 p.Ser304Gly Uncertain significance Single submitter
- SLC30A7 p.Val251Gly Uncertain significance Single submitter
- SLC30A7 p.Val369Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- SLC30A7 p.Cys308Tyr Uncertain significance Multiple submitters
- SLC30A7 p.His216Arg Uncertain significance Multiple submitters
- SLC30A7 p.His218Arg Uncertain significance Multiple submitters
- SLC30A7 p.Ile154Thr Uncertain significance Multiple submitters
- SLC30A7 p.Ala374Glu Uncertain significance Single submitter
- SLC30A7 p.Cys330Tyr Uncertain significance Single submitter
- SLC30A7 p.His172Arg Uncertain significance Single submitter
- SLC30A7 p.His210Tyr Uncertain significance Single submitter
- SLC30A7 p.His356Asn Uncertain significance Single submitter
- SLC30A7 p.Leu44Val Uncertain significance Single submitter
- SLC30A7 p.Phe179Leu Uncertain significance Single submitter
All SLC30A7 variants
Pathogenic 1
- p.His164Ser No assertion criteria Joubert syndrome 1
Likely pathogenic 3
- c.296+1G>A Single submitter severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
- c.842+15T>C Single submitter atrophy of testis
- p.Ile122fs Single submitter Ziegler-Huang syndrome
Conflicting classifications of pathogenicity 1
- p.Gly262Asp Single submitter ⚠
Benign 2
- p.Gly169Asp Multiple submitters
- p.Ala343= Single submitter
Likely benign 8
- p.Ala255= Multiple submitters
- p.Pro221= Multiple submitters
- c.511+16C>G Single submitter
- c.512-17A>G Single submitter
- c.843-16T>C Single submitter
- p.Asp244= Single submitter
- p.Ile154Val Single submitter
- p.Ser304= Single submitter
Uncertain significance 49
- p.Cys308Tyr Multiple submitters ⚠
- p.His189Arg Multiple submitters ⚠
- p.His216Arg Multiple submitters ⚠
- p.His218Arg Multiple submitters ⚠
- p.Ile154Thr Multiple submitters ⚠
- p.Ile241Val Multiple submitters ⚠
- p.Pro133Leu Multiple submitters
- p.Trp58Arg Multiple submitters ⚠
- p.Tyr368Cys Multiple submitters
- p.Ala103Val Single submitter
- p.Ala119Asp Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Ala362Thr Single submitter ⚠
- p.Ala374Glu Single submitter ⚠
- p.Ala375Val Single submitter ⚠
- p.Ala83Gly Single submitter ⚠
- p.Arg349Lys Single submitter ⚠
- p.Asn357del Single submitter Ziegler-Huang syndrome
- p.Asn357Ser Single submitter ⚠
- p.Asn93Ser Single submitter ⚠
- p.Asp345Asn Single submitter ⚠
- p.Cys330Tyr Single submitter ⚠
- p.Gln232His Single submitter
- p.Gln259Lys Single submitter ⚠
- p.Gln310Arg Single submitter ⚠
- p.Gln324Glu Single submitter ⚠
- p.Gly148Val Single submitter ⚠
- p.Gly56Ala Single submitter ⚠
- p.His137Tyr Single submitter ⚠
- p.His172Arg Single submitter ⚠
- p.His174Arg Single submitter
- p.His176Leu Single submitter ⚠
- p.His189Asp Single submitter ⚠
- p.His210Tyr Single submitter ⚠
- p.His356Asn Single submitter ⚠
- p.Ile276Ser Single submitter ⚠
- p.Ile276Val Single submitter ⚠
- p.Ile283Phe Single submitter ⚠
- p.Leu183Val Single submitter ⚠
- p.Leu44Val Single submitter ⚠
- p.Met257Val Single submitter ⚠
- p.Met264Lys Single submitter ⚠
- p.Phe179Leu Single submitter ⚠
- p.Pro221Leu Single submitter ⚠
- p.Ser304Gly Single submitter ⚠
- p.Ser47Phe Single submitter
- p.Trp58Gly Single submitter
- p.Val251Gly Single submitter ⚠
- p.Val369Ile Single submitter ⚠