KCNK17 — 63 ClinVar variants
All ClinVar germline KCNK17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
1 Likely pathogenic · 1 Benign · 6 Likely benign · 55 Uncertain significance
Full KCNK17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNK17 p.Arg177Gln Uncertain significance Multiple submitters
- KCNK17 p.Ala180Val Uncertain significance Single submitter
- KCNK17 p.Ala31Ser Uncertain significance Single submitter
- KCNK17 p.Ala325Thr Uncertain significance Single submitter
- KCNK17 p.Ala73Val Uncertain significance Single submitter
- KCNK17 p.Ala8Glu Uncertain significance Single submitter
- KCNK17 p.Arg150Gln Uncertain significance Single submitter
- KCNK17 p.Arg236Ser Uncertain significance Single submitter
- KCNK17 p.Arg296Trp Uncertain significance Single submitter
- KCNK17 p.Arg7Gln Uncertain significance Single submitter
- KCNK17 p.Asn121Ser Uncertain significance Single submitter
- KCNK17 p.Asp226Val Uncertain significance Single submitter
- KCNK17 p.Gln83Arg Uncertain significance Single submitter
- KCNK17 p.Glu61Asp Uncertain significance Single submitter
- KCNK17 p.Gly168Ser Uncertain significance Single submitter
- KCNK17 p.Gly181Val Uncertain significance Single submitter
- KCNK17 p.Gly225Ser Uncertain significance Single submitter
- KCNK17 p.Gly38Arg Uncertain significance Single submitter
- KCNK17 p.Ile315Val Uncertain significance Single submitter
- KCNK17 p.Ile316Thr Uncertain significance Single submitter
- KCNK17 p.Leu179Met Uncertain significance Single submitter
- KCNK17 p.Leu185Phe Uncertain significance Single submitter
- KCNK17 p.Leu186Phe Uncertain significance Single submitter
- KCNK17 p.Leu191Phe Uncertain significance Single submitter
- KCNK17 p.Leu219Arg Uncertain significance Single submitter
- KCNK17 p.Leu250Pro Uncertain significance Single submitter
- KCNK17 p.Leu74Gln Uncertain significance Single submitter
- KCNK17 p.Lys175Met Uncertain significance Single submitter
- KCNK17 p.Lys286Asn Uncertain significance Single submitter
- KCNK17 p.Met203Leu Uncertain significance Single submitter
- KCNK17 p.Phe135Val Uncertain significance Single submitter
- KCNK17 p.Pro294Thr Uncertain significance Single submitter
- KCNK17 p.Pro298Thr Uncertain significance Single submitter
- KCNK17 p.Pro4Leu Uncertain significance Single submitter
- KCNK17 p.Ser187Leu Uncertain significance Single submitter
- KCNK17 p.Thr218Ala Uncertain significance Single submitter
- KCNK17 p.Trp101Arg Uncertain significance Single submitter
- KCNK17 p.Tyr213Cys Uncertain significance Single submitter
- KCNK17 p.Tyr308Cys Uncertain significance Single submitter
- KCNK17 p.Val146Met Uncertain significance Single submitter
- KCNK17 p.Val14Asp Uncertain significance Single submitter
- KCNK17 p.Val19Met Uncertain significance Single submitter
- KCNK17 p.Val82Leu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- KCNK17 p.Ala163Thr Uncertain significance Single submitter
- KCNK17 p.Arg130His Uncertain significance Single submitter
- KCNK17 p.Arg71Cys Uncertain significance Single submitter
- KCNK17 p.Asn243Lys Uncertain significance Single submitter
- KCNK17 p.Gln64Pro Uncertain significance Single submitter
- KCNK17 p.Thr96Ile Uncertain significance Single submitter
- KCNK17 p.Tyr29His Uncertain significance Single submitter
- KCNK17 p.Val228Met Uncertain significance Single submitter
All KCNK17 variants
Likely pathogenic 1
- p.Gly88Arg No assertion criteria
Benign 1
- p.Glu61Lys Single submitter
Likely benign 6
- p.Ala89Thr Single submitter
- p.Gln157Arg Single submitter
- p.Gly306Glu Single submitter
- p.Leu189fs Single submitter
- p.Met244Thr Single submitter
- p.Thr221= Single submitter
Uncertain significance 55
- p.Arg177Gln Multiple submitters ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala180Val Single submitter ⚠
- p.Ala31Ser Single submitter ⚠
- p.Ala325Thr Single submitter ⚠
- p.Ala73Val Single submitter ⚠
- p.Ala8Glu Single submitter ⚠
- p.Arg130His Single submitter ⚠
- p.Arg150Gln Single submitter ⚠
- p.Arg236Ser Single submitter ⚠
- p.Arg296Trp Single submitter ⚠
- p.Arg71Cys Single submitter ⚠
- p.Arg7Gln Single submitter ⚠
- p.Asn121Ser Single submitter ⚠
- p.Asn243Lys Single submitter ⚠
- p.Asp226Val Single submitter ⚠
- p.Gln64Pro Single submitter ⚠
- p.Gln64Ter Single submitter
- p.Gln83Arg Single submitter ⚠
- p.Glu61Asp Single submitter ⚠
- p.Gly168Ser Single submitter ⚠
- p.Gly181Val Single submitter ⚠
- p.Gly225Ser Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.Ile117Thr Single submitter
- p.Ile315Val Single submitter ⚠
- p.Ile316Thr Single submitter ⚠
- p.Leu179Met Single submitter ⚠
- p.Leu185Phe Single submitter ⚠
- p.Leu186Phe Single submitter ⚠
- p.Leu191Phe Single submitter ⚠
- p.Leu219Arg Single submitter ⚠
- p.Leu250Pro Single submitter ⚠
- p.Leu74Gln Single submitter ⚠
- p.Lys175Met Single submitter ⚠
- p.Lys286Asn Single submitter ⚠
- p.Met203Leu Single submitter ⚠
- p.Phe135Val Single submitter ⚠
- p.Pro294Thr Single submitter ⚠
- p.Pro298Thr Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Ser187Leu Single submitter ⚠
- p.Thr218Ala Single submitter ⚠
- p.Thr96Ile Single submitter ⚠
- p.Trp101Arg Single submitter ⚠
- p.Tyr213Cys Single submitter ⚠
- p.Tyr29His Single submitter ⚠
- p.Tyr308Cys Single submitter ⚠
- p.Val146Met Single submitter ⚠
- p.Val14Asp Single submitter ⚠
- p.Val19Met Single submitter ⚠
- p.Val228Met Single submitter ⚠
- p.Val82Leu Single submitter ⚠
- p.Asp331= No assertion criteria
- p.Leu145= No assertion criteria