KCNA4 — 81 ClinVar variants
All ClinVar germline KCNA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
1 Benign · 7 Likely benign · 73 Uncertain significance
Full KCNA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KCNA4 p.Ala45Pro Uncertain significance Single submitter
-
KCNA4 p.Ala49Val
Uncertain significance
Single submitter
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- KCNA4 p.Arg225His Uncertain significance Single submitter
- KCNA4 p.Arg240His Uncertain significance Single submitter
- KCNA4 p.Arg26Trp Uncertain significance Single submitter
- KCNA4 p.Arg277Lys Uncertain significance Single submitter
- KCNA4 p.Arg87Gln Uncertain significance Single submitter
-
KCNA4 p.Arg89Gln
Uncertain significance
Single submitter
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- KCNA4 p.Asn641His Uncertain significance Single submitter
- KCNA4 p.Asp149Gly Uncertain significance Single submitter
- KCNA4 p.Asp635Gly Uncertain significance Single submitter
- KCNA4 p.Asp75Asn Uncertain significance Single submitter
- KCNA4 p.Cys629Gly Uncertain significance Single submitter
- KCNA4 p.Cys71Tyr Uncertain significance Single submitter
- KCNA4 p.Gln578His Uncertain significance Single submitter
- KCNA4 p.Glu120Lys Uncertain significance Single submitter
- KCNA4 p.Glu136Ala Uncertain significance Single submitter
- KCNA4 p.Glu620Gly Uncertain significance Single submitter
- KCNA4 p.Gly112Asp Uncertain significance Single submitter
- KCNA4 p.Gly148Arg Uncertain significance Single submitter
- KCNA4 p.Gly363Arg Uncertain significance Single submitter
- KCNA4 p.Gly429Arg Uncertain significance Single submitter
- KCNA4 p.Gly430Ser Uncertain significance Single submitter
- KCNA4 p.His358Tyr Uncertain significance Single submitter
- KCNA4 p.His65Tyr Uncertain significance Single submitter
- KCNA4 p.His74Arg Uncertain significance Single submitter
- KCNA4 p.Ile251Val Uncertain significance Single submitter
- KCNA4 p.Ile317Val Uncertain significance Single submitter
- KCNA4 p.Ile323Thr Uncertain significance Single submitter
- KCNA4 p.Ile487Val Uncertain significance Single submitter
- KCNA4 p.Leu156Val Uncertain significance Single submitter
- KCNA4 p.Leu351Phe Uncertain significance Single submitter
- KCNA4 p.Leu605Pro Uncertain significance Single submitter
- KCNA4 p.Lys608Arg Uncertain significance Single submitter
- KCNA4 p.Lys640Arg Uncertain significance Single submitter
- KCNA4 p.Met340Ile Uncertain significance Single submitter
- KCNA4 p.Met340Thr Uncertain significance Single submitter
- KCNA4 p.Met438Thr Uncertain significance Single submitter
- KCNA4 p.Phe140Leu Uncertain significance Single submitter
- KCNA4 p.Phe371Cys Uncertain significance Single submitter
- KCNA4 p.Phe492Ser Uncertain significance Single submitter
- KCNA4 p.Pro158Ser Uncertain significance Single submitter
- KCNA4 p.Pro214Ser Uncertain significance Single submitter
- KCNA4 p.Ser101Arg Uncertain significance Single submitter
- KCNA4 p.Ser343Arg Uncertain significance Single submitter
- KCNA4 p.Ser599Gly Uncertain significance Single submitter
- KCNA4 p.Ser644Phe Uncertain significance Single submitter
- KCNA4 p.Ser90Phe Uncertain significance Single submitter
- KCNA4 p.Thr365Arg Uncertain significance Single submitter
- KCNA4 p.Thr580Met Uncertain significance Single submitter
- KCNA4 p.Trp381Cys Uncertain significance Single submitter
- KCNA4 p.Val245Ile Uncertain significance Single submitter
- KCNA4 p.Val374Met Uncertain significance Single submitter
- KCNA4 p.Val377Ile Uncertain significance Single submitter
- KCNA4 p.Val388Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
-
KCNA4 p.Lys608Asn
Uncertain significance
Multiple submitters
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- KCNA4 p.Ala265Val Uncertain significance Single submitter
- KCNA4 p.Arg170Cys Uncertain significance Single submitter
- KCNA4 p.Arg28Gln Uncertain significance Single submitter
- KCNA4 p.Arg32Lys Uncertain significance Single submitter
- KCNA4 p.Glu132Lys Uncertain significance Single submitter
- KCNA4 p.Glu133Lys Uncertain significance Single submitter
-
KCNA4 p.Phe249Tyr
Uncertain significance
Single submitter
microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- KCNA4 p.Phe400Val Uncertain significance Single submitter
- KCNA4 p.Pro18Ala Uncertain significance Single submitter
- KCNA4 p.Thr651Ala Uncertain significance Single submitter
- KCNA4 p.Tyr19His Uncertain significance Single submitter
- KCNA4 p.Val314Ile Uncertain significance Single submitter
All KCNA4 variants
Benign 1
- p.Gly345= Multiple submitters
Likely benign 7
Uncertain significance 73
- p.Lys608Asn Multiple submitters microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum ⚠
- p.Ala265Val Single submitter ⚠
- p.Ala45Pro Single submitter ⚠
- p.Ala49Val Single submitter microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum ⚠
- p.Arg170Cys Single submitter ⚠
- p.Arg225His Single submitter ⚠
- p.Arg240His Single submitter ⚠
- p.Arg26Trp Single submitter ⚠
- p.Arg277Lys Single submitter ⚠
- p.Arg28Gln Single submitter ⚠
- p.Arg32Lys Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg89Gln Single submitter microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum ⚠
- p.Arg98fs Single submitter
- p.Asn641His Single submitter ⚠
- p.Asp149Gly Single submitter ⚠
- p.Asp635Gly Single submitter ⚠
- p.Asp75Asn Single submitter ⚠
- p.Cys629Gly Single submitter ⚠
- p.Cys71Tyr Single submitter ⚠
- p.Gln578His Single submitter ⚠
- p.Glu120Lys Single submitter ⚠
- p.Glu132Lys Single submitter ⚠
- p.Glu133Lys Single submitter ⚠
- p.Glu136Ala Single submitter ⚠
- p.Glu503Asp Single submitter
- p.Glu620Gly Single submitter ⚠
- p.Gly112Asp Single submitter ⚠
- p.Gly148Arg Single submitter ⚠
- p.Gly363Arg Single submitter ⚠
- p.Gly429Arg Single submitter ⚠
- p.Gly430Ser Single submitter ⚠
- p.His358Tyr Single submitter ⚠
- p.His469Tyr Single submitter
- p.His65Tyr Single submitter ⚠
- p.His74Arg Single submitter ⚠
- p.Ile251Val Single submitter ⚠
- p.Ile317Val Single submitter ⚠
- p.Ile323Thr Single submitter ⚠
- p.Ile487Val Single submitter ⚠
- p.Leu156Val Single submitter ⚠
- p.Leu351Phe Single submitter ⚠
- p.Leu605Pro Single submitter ⚠
- p.Lys608Arg Single submitter ⚠
- p.Lys640Arg Single submitter ⚠
- p.Met340Ile Single submitter ⚠
- p.Met340Thr Single submitter ⚠
- p.Met438Thr Single submitter ⚠
- p.Phe140Leu Single submitter ⚠
- p.Phe249Tyr Single submitter microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum ⚠
- p.Phe371Cys Single submitter ⚠
- p.Phe400Val Single submitter ⚠
- p.Phe492Ser Single submitter ⚠
- p.Pro158Ser Single submitter ⚠
- p.Pro18Ala Single submitter ⚠
- p.Pro214Ser Single submitter ⚠
- p.Ser101Arg Single submitter ⚠
- p.Ser343Arg Single submitter ⚠
- p.Ser599Gly Single submitter ⚠
- p.Ser644Phe Single submitter ⚠
- p.Ser90Phe Single submitter ⚠
- p.Thr365Arg Single submitter ⚠
- p.Thr580Met Single submitter ⚠
- p.Thr651Ala Single submitter ⚠
- p.Trp381Cys Single submitter ⚠
- p.Tyr19His Single submitter ⚠
- p.Val245Ile Single submitter ⚠
- p.Val314Ile Single submitter ⚠
- p.Val374Leu Single submitter
- p.Val374Met Single submitter ⚠
- p.Val377Ile Single submitter ⚠
- p.Val388Ile Single submitter ⚠
- p.Val535Leu Single submitter