KATNAL2 — 160 ClinVar variants
All ClinVar germline KATNAL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →
1 Conflicting · 11 Benign · 54 Likely benign · 94 Uncertain significance
Full KATNAL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 82
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 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- KATNAL2 p.Glu452Asp Uncertain significance Multiple submitters
-
KATNAL2 p.Leu246Ile
Uncertain significance
Multiple submitters
KATNAL2-related disorder
- KATNAL2 p.Ala196Val Uncertain significance Single submitter
- KATNAL2 p.Ala346Thr Uncertain significance Single submitter
- KATNAL2 p.Ala430Asp Uncertain significance Single submitter
- KATNAL2 p.Ala430Ser Uncertain significance Single submitter
- KATNAL2 p.Ala430Thr Uncertain significance Single submitter
- KATNAL2 p.Ala521Thr Uncertain significance Single submitter
- KATNAL2 p.Arg127Ser Uncertain significance Single submitter
- KATNAL2 p.Arg129Trp Uncertain significance Single submitter
- KATNAL2 p.Arg182Gln Uncertain significance Single submitter
- KATNAL2 p.Arg242Trp Uncertain significance Single submitter
- KATNAL2 p.Arg375Gln Uncertain significance Single submitter
- KATNAL2 p.Arg412Cys Uncertain significance Single submitter
- KATNAL2 p.Arg425Trp Uncertain significance Single submitter
- KATNAL2 p.Asn114His Uncertain significance Single submitter
- KATNAL2 p.Asp210Asn Uncertain significance Single submitter
- KATNAL2 p.Asp353Glu Uncertain significance Single submitter
- KATNAL2 p.Asp421Asn Uncertain significance Single submitter
- KATNAL2 p.Asp512Glu Uncertain significance Single submitter
- KATNAL2 p.Asp95Asn Uncertain significance Single submitter
- KATNAL2 p.Glu235Asp Uncertain significance Single submitter
- KATNAL2 p.Glu235Lys Uncertain significance Single submitter
- KATNAL2 p.Glu379Asp Uncertain significance Single submitter
- KATNAL2 p.Glu391Asp Uncertain significance Single submitter
- KATNAL2 p.Glu536Gln Uncertain significance Single submitter
- KATNAL2 p.Glu98Asp Uncertain significance Single submitter
- KATNAL2 p.Gly135Arg Uncertain significance Single submitter
- KATNAL2 p.Gly138Glu Uncertain significance Single submitter
- KATNAL2 p.Gly164Ser Uncertain significance Single submitter
- KATNAL2 p.Gly175Arg Uncertain significance Single submitter
- KATNAL2 p.Gly329Arg Uncertain significance Single submitter
- KATNAL2 p.Gly465Arg Uncertain significance Single submitter
- KATNAL2 p.His166Gln Uncertain significance Single submitter
- KATNAL2 p.His434Tyr Uncertain significance Single submitter
- KATNAL2 p.His490Gln Uncertain significance Single submitter
- KATNAL2 p.Ile432Met Uncertain significance Single submitter
-
KATNAL2 p.Ile468Thr
Uncertain significance
Single submitter
KATNAL2-related disorder
- KATNAL2 p.Leu284Pro Uncertain significance Single submitter
- KATNAL2 p.Leu402Pro Uncertain significance Single submitter
- KATNAL2 p.Lys263Gln Uncertain significance Single submitter
- KATNAL2 p.Lys88Arg Uncertain significance Single submitter
- KATNAL2 p.Lys91Arg Uncertain significance Single submitter
- KATNAL2 p.Met112Ile Uncertain significance Single submitter
- KATNAL2 p.Met477Val Uncertain significance Single submitter
- KATNAL2 p.Pro102Leu Uncertain significance Single submitter
- KATNAL2 p.Pro213Leu Uncertain significance Single submitter
- KATNAL2 p.Pro498Ala Uncertain significance Single submitter
- KATNAL2 p.Ser168Leu Uncertain significance Single submitter
- KATNAL2 p.Ser174Asn Uncertain significance Single submitter
- KATNAL2 p.Ser231Gly Uncertain significance Single submitter
- KATNAL2 p.Ser373Gly Uncertain significance Single submitter
- KATNAL2 p.Ser454Asn Uncertain significance Single submitter
- KATNAL2 p.Ser466Pro Uncertain significance Single submitter
- KATNAL2 p.Thr515Ile Uncertain significance Single submitter
- KATNAL2 p.Tyr272His Uncertain significance Single submitter
- KATNAL2 p.Val152Ala Uncertain significance Single submitter
- KATNAL2 p.Val239Met Uncertain significance Single submitter
- KATNAL2 p.Val335Ile Uncertain significance Single submitter
- KATNAL2 p.Val335Leu Uncertain significance Single submitter
- KATNAL2 p.Val394Ile Uncertain significance Single submitter
- KATNAL2 p.Val81Glu Uncertain significance Single submitter
-
KATNAL2 p.Glu371Lys
Uncertain significance
No assertion criteria
KATNAL2-related disorder
Predictors split 18
The independent predictors disagree with each other — read with care.
-
KATNAL2 p.His247Tyr
Uncertain significance
Multiple submitters
KATNAL2-related autism
- KATNAL2 p.Leu302Ser Uncertain significance Multiple submitters
- KATNAL2 p.Ala320Thr Uncertain significance Single submitter
- KATNAL2 p.Ala320Val Likely benign Single submitter
- KATNAL2 p.Ala430Val Uncertain significance Single submitter
- KATNAL2 p.Arg343His Likely benign Single submitter
- KATNAL2 p.Asn250Ser Uncertain significance Single submitter
- KATNAL2 p.Asn28Ser Benign Single submitter
- KATNAL2 p.Asp188Gly Uncertain significance Single submitter
- KATNAL2 p.Gln278Pro Uncertain significance Single submitter
- KATNAL2 p.Glu536Lys Uncertain significance Single submitter
- KATNAL2 p.Leu279Ile Uncertain significance Single submitter
- KATNAL2 p.Lys221Thr Uncertain significance Single submitter
- KATNAL2 p.Pro479Ser Uncertain significance Single submitter
- KATNAL2 p.Thr506Ala Uncertain significance Single submitter
- KATNAL2 p.Tyr528His Uncertain significance Single submitter
- KATNAL2 p.Val240Met Uncertain significance Single submitter
-
KATNAL2 p.Glu461Gly
Uncertain significance
No assertion criteria
KATNAL2-related disorder
All KATNAL2 variants
Conflicting classifications of pathogenicity 1
- p.Arg171Cys Single submitter ⚠
Benign 11
- c.290-5C>A Multiple submitters
- p.Gly294= Multiple submitters
- p.Ser160Asn Multiple submitters
- p.Thr460= Multiple submitters
- c.1211+6865C>T Single submitter
- p.Asn28Ser Single submitter ⚠
- p.Leu265Val Single submitter
- c.1211+6886T>C No assertion criteria KATNAL2-related disorder
- c.1212-1009dup No assertion criteria KATNAL2-related disorder
- c.1212-907G>T No assertion criteria KATNAL2-related disorder
- c.1212-956_1212-954del No assertion criteria KATNAL2-related disorder
Likely benign 54
- c.649-3C>T Multiple submitters
- p.Ala134= Multiple submitters
- p.Ala134Val Multiple submitters
- p.Leu502= Multiple submitters
- p.Phe163= Multiple submitters
- c.1211+857del Single submitter
- c.1212-833A>G Single submitter
- c.51+16256C>T Single submitter
- c.51+16361C>T Single submitter
- c.51+16373C>T Single submitter
- c.51+16436G>A Single submitter
- c.51+16472G>A Single submitter
- c.51+16829C>T Single submitter
- c.51+22126T>C Single submitter
- c.51+22330C>T Single submitter
- c.51+22462G>A Single submitter
- c.51+22471G>A Single submitter
- c.51+22546C>T Single submitter
- c.51+22630C>T Single submitter
- c.51+22756C>T Single submitter
- c.52-17145G>C Single submitter
- c.52-17520C>T Single submitter
- c.52-18009C>T Single submitter
- p.Ala320Val Single submitter ⚠
- p.Arg111= Single submitter
- p.Arg157His Single submitter
- p.Arg343His Single submitter ⚠
- p.Arg375= Single submitter
- p.Arg425Gln Single submitter
- p.Arg443= Single submitter
- p.Gly329= Single submitter
- p.Ile504Thr Single submitter
- p.Leu259= Single submitter
- p.Leu303= Single submitter
- p.Met113Ile Single submitter
- p.Pro102= Single submitter
- p.Ser142Leu Single submitter
- p.Ser454= Single submitter
- p.Ser495= Single submitter
- p.Thr156Ser Single submitter
- p.Tyr293= Single submitter
- p.Val420= Single submitter
- p.Val513= Single submitter
- c.1212-1075A>G No assertion criteria KATNAL2-related disorder
- c.1477+8T>C No assertion criteria KATNAL2-related disorder
- c.451-4T>C No assertion criteria KATNAL2-related disorder
- c.52-17681T>G No assertion criteria ELOA3P-related condition
- c.52-17841G>A No assertion criteria ELOA3P-related condition
- c.52-17901T>C No assertion criteria ELOA3P-related condition
- c.825+8C>T No assertion criteria KATNAL2-related disorder
- c.-338A>T No assertion criteria KATNAL2-related disorder
- p.Ala238= No assertion criteria KATNAL2-related disorder
- p.Arg129= No assertion criteria KATNAL2-related disorder
- p.Arg58Gln No assertion criteria KATNAL2-related disorder
Uncertain significance 94
- p.Glu452Asp Multiple submitters ⚠
- p.Gly294fs Multiple submitters
- p.His247Tyr Multiple submitters KATNAL2-related autism ⚠
- p.Leu246Ile Multiple submitters KATNAL2-related disorder ⚠
- p.Leu302Ser Multiple submitters ⚠
- c.1211+6922A>G Single submitter KATNAL2-related disorder
- c.289+3A>G Single submitter KATNAL2-related disorder
- c.890-3T>C Single submitter
- c.-9C>T Single submitter KATNAL2-related disorder
- p.Ala196Val Single submitter ⚠
- p.Ala320Thr Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala430Asp Single submitter ⚠
- p.Ala430Ser Single submitter ⚠
- p.Ala430Thr Single submitter ⚠
- p.Ala430Val Single submitter ⚠
- p.Ala521Thr Single submitter ⚠
- p.Arg111fs Single submitter
- p.Arg127Ser Single submitter ⚠
- p.Arg129Trp Single submitter ⚠
- p.Arg182Gln Single submitter ⚠
- p.Arg218Ter Single submitter KATNAL2-related disorder
- p.Arg242Trp Single submitter ⚠
- p.Arg375Gln Single submitter ⚠
- p.Arg412Cys Single submitter ⚠
- p.Arg425Trp Single submitter ⚠
- p.Arg58Ter Single submitter KATNAL2-related disorder
- p.Asn114His Single submitter ⚠
- p.Asn230Lys Single submitter
- p.Asn250Ser Single submitter ⚠
- p.Asp188Gly Single submitter ⚠
- p.Asp210Asn Single submitter ⚠
- p.Asp353Glu Single submitter ⚠
- p.Asp421Asn Single submitter ⚠
- p.Asp512Glu Single submitter ⚠
- p.Asp95Asn Single submitter ⚠
- p.Gln126Ter Single submitter Inborn genetic diseases
- p.Gln278Pro Single submitter ⚠
- p.Glu235Asp Single submitter ⚠
- p.Glu235Lys Single submitter ⚠
- p.Glu379Asp Single submitter ⚠
- p.Glu391Asp Single submitter ⚠
- p.Glu40Lys Single submitter
- p.Glu536Gln Single submitter ⚠
- p.Glu536Lys Single submitter ⚠
- p.Glu98Asp Single submitter ⚠
- p.Gly135Arg Single submitter ⚠
- p.Gly138Glu Single submitter ⚠
- p.Gly164Ser Single submitter ⚠
- p.Gly175Arg Single submitter ⚠
- p.Gly329Arg Single submitter ⚠
- p.Gly465Arg Single submitter ⚠
- p.His166Gln Single submitter ⚠
- p.His434Tyr Single submitter ⚠
- p.His490Gln Single submitter ⚠
- p.Ile432Met Single submitter ⚠
- p.Ile468Thr Single submitter KATNAL2-related disorder ⚠
- p.Leu279Ile Single submitter ⚠
- p.Leu284Pro Single submitter ⚠
- p.Leu402Pro Single submitter ⚠
- p.Lys221Thr Single submitter ⚠
- p.Lys263Gln Single submitter ⚠
- p.Lys88Arg Single submitter ⚠
- p.Lys91Arg Single submitter ⚠
- p.Met112Ile Single submitter ⚠
- p.Met477Val Single submitter ⚠
- p.Phe189Leu Single submitter
- p.Pro102Leu Single submitter ⚠
- p.Pro213Leu Single submitter ⚠
- p.Pro479Ser Single submitter ⚠
- p.Pro498Ala Single submitter ⚠
- p.Ser168Leu Single submitter ⚠
- p.Ser174Asn Single submitter ⚠
- p.Ser231Gly Single submitter ⚠
- p.Ser241Asn Single submitter
- p.Ser373Gly Single submitter ⚠
- p.Ser442fs Single submitter
- p.Ser454Asn Single submitter ⚠
- p.Ser466Pro Single submitter ⚠
- p.Thr506Ala Single submitter ⚠
- p.Thr515Ile Single submitter ⚠
- p.Thr517Ile Single submitter
- p.Tyr272His Single submitter ⚠
- p.Tyr528His Single submitter ⚠
- p.Val152Ala Single submitter ⚠
- p.Val239Met Single submitter ⚠
- p.Val240Met Single submitter ⚠
- p.Val335Ile Single submitter ⚠
- p.Val335Leu Single submitter ⚠
- p.Val394Ile Single submitter ⚠
- p.Val81Glu Single submitter ⚠
- c.-313T>A No assertion criteria KATNAL2-related disorder
- p.Glu371Lys No assertion criteria KATNAL2-related disorder ⚠
- p.Glu461Gly No assertion criteria KATNAL2-related disorder ⚠