ATP1A2 — 1544 ClinVar variants

All ClinVar germline ATP1A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 586 flagged for review →

57 Pathogenic · 16 Pathogenic/Likely pathogenic · 66 Likely pathogenic · 86 Conflicting · 95 Benign · 41 Benign/Likely benign · 505 Likely benign · 678 Uncertain significance

Full ATP1A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 586

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 45

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ATP1A2 p.Ala272Thr Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala283Val Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala318Glu Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala643Gly Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg1007Gln Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg1007Trp Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg279Gln Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Arg348Cys Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg3His Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg421Gln Conflicting Single submitter
alternating hemiplegia of childhood 1
ATP1A2 p.Arg51His Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg564Gln Conflicting Single submitter
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
ATP1A2 p.Arg593Gln Conflicting Single submitter
ATP1A2-related disorder
ATP1A2 p.Arg593Trp Conflicting Single submitter
ATP1A2-related disorder
ATP1A2 p.Arg604Gln Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg65Leu Conflicting Single submitter
developmental and epileptic encephalopathy 98
ATP1A2 p.Arg763His Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Asn556Tyr Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Asp470Glu Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Asp528Asn Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Asp718Asn Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Gln532Glu Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Gly324Ser Conflicting Single submitter
developmental and epileptic encephalopathy 98
ATP1A2 p.Gly551Arg Conflicting Single submitter
fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
ATP1A2 p.Gly762Ser Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Gly874Ser Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Ile647Val Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Leu102Pro Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Lys567Arg Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Met829Thr Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Pro979Arg Conflicting Single submitter
alternating hemiplegia of childhood 1
ATP1A2 p.Ser220Leu Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Ser499Asn Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Thr15Met Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Thr343Ile Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Thr376Arg Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Thr378Ile Conflicting Single submitter
hemiplegic migraine-developmental and epileptic encephalopathy spectrum
ATP1A2 p.Thr577Met Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Thr959Met Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Tyr851Cys Conflicting Single submitter
ATP1A2 p.Tyr9Asn Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Val197Ile Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Val330Met Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Val430Ile Conflicting Single submitter
familial hemiplegic migraine
ATP1A2 p.Val69Ile Conflicting Single submitter
familial hemiplegic migraine

Predictors lean, ClinVar uncertain 428

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 428

ATP1A2 p.Ala13Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala13Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ala361Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala387Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala418Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala606Ser Uncertain significance Multiple submitters
ATP1A2 p.Ala688Ser Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala707Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ala710Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ala871Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala960Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg1002Gly Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg1007Pro Uncertain significance Multiple submitters
ATP1A2 p.Arg171Trp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg196Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg238Cys Uncertain significance Multiple submitters
ATP1A2-related disorder
ATP1A2 p.Arg262Gln Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg262Trp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg267Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg267His Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg348His Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg383Leu Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg412Gln Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg428Cys Uncertain significance Multiple submitters
alternating hemiplegia of childhood 1
ATP1A2 p.Arg428His Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg443Gln Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg443Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg471Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg493Gln Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg510Cys Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg514Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg514Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg514Trp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg644Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg644Trp Uncertain significance Multiple submitters
migraine, familial hemiplegic, 2
ATP1A2 p.Arg763Cys Uncertain significance Multiple submitters
ATP1A2-related disorder
ATP1A2 p.Arg7His Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg831Trp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg890Trp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg908Trp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg976Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Asn246Asp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asn437Ser Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp590Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp676Asn Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp68Tyr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp714Glu Uncertain significance Multiple submitters
ATP1A2 p.Asp737Gly Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp744Asn Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp894Tyr Uncertain significance Multiple submitters
migraine, familial hemiplegic, 2
ATP1A2 p.Cys354Tyr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Cys457Arg Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gln54Lys Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gln64His Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Glu228Asp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Glu760Asp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly1011Cys Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly19Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly20Asp Uncertain significance Multiple submitters
ATP1A2 p.Gly366Asp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly544Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly560Ala Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly565Asp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly629Ser Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly664Ser Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly861Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gly96Arg Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.His388Arg Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.His491Asn Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile1005Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ile107Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile240Asn Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile255Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile268Arg Uncertain significance Multiple submitters
migraine, familial hemiplegic, 2
ATP1A2 p.Ile268Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ile708Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile792Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Leu111Pro Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Leu455Ile Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Leu94Phe Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Leu951Gln Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Leu993Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Met156Ile Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Met892Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Phe243Tyr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Phe752Ile Uncertain significance Multiple submitters
alternating hemiplegia of childhood 1
ATP1A2 p.Phe964Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Pro123Gln Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Pro198Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Pro497His Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Pro796Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy 98
ATP1A2 p.Pro990Leu Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ser10Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ser145Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ser206Tyr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ser516Ala Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ser672Thr Uncertain significance Multiple submitters
alternating hemiplegia of childhood 1
ATP1A2 p.Thr415Met Uncertain significance Multiple submitters
ATP1A2-related disorder
ATP1A2 p.Thr417Ala Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Thr417Met Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Thr445Ile Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Thr620Arg Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Thr917Met Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Tyr53Cys Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val133Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Val248Phe Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val440Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Val686Ile Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val69Phe Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val711Met Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Val759Ala Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val924Met Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val925Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Ala112Asp Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala12Thr Uncertain significance Single submitter
ATP1A2 p.Ala135Thr Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Ala136Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala167Asp Uncertain significance Single submitter
ATP1A2 p.Ala167Gly Uncertain significance Single submitter
ATP1A2 p.Ala16Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala199Asp Uncertain significance Single submitter
ATP1A2 p.Ala252Thr Uncertain significance Single submitter
alternating hemiplegia of childhood 1
ATP1A2 p.Ala252Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala269Thr Uncertain significance Single submitter
ATP1A2 p.Ala283Glu Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala318Val Uncertain significance Single submitter
ATP1A2 p.Ala328Gly Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Ala328Thr Uncertain significance Single submitter
ATP1A2 p.Ala346Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala346Val Uncertain significance Single submitter
ATP1A2 p.Ala350Glu Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Ala387Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala38Ser Uncertain significance Single submitter
ATP1A2 p.Ala38Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala418Ser Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala429Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala453Pro Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala476Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala507Ser Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala595Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala5Ser Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala621Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala642Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala710Thr Uncertain significance Single submitter
ATP1A2 p.Ala71Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala871Glu Uncertain significance Single submitter
ATP1A2 p.Ala918Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala974Asp Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg171Gln Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg196His Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 113

The independent predictors disagree with each other — read with care.

ATP1A2 p.Ala117Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala963Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg1008Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg225His Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg3Cys Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg469Lys Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg51Leu Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg564Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg655Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg65Trp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg72Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy 98
ATP1A2 p.Arg7Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Arg890Gln Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg92Cys Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Arg92His Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Asn161Asp Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp392Asn Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Asp533His Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Gln554Leu Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Glu332Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy 98
ATP1A2 p.Glu572Lys Uncertain significance Multiple submitters
ATP1A2-associated neurological disorder
ATP1A2 p.Gly114Ser Benign/Likely benign Multiple submitters
alternating hemiplegia of childhood 1
ATP1A2 p.His207Tyr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile104Thr Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile478Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ile631Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Leu955Val Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Met670Val Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Pro526Leu Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Thr224Asn Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Thr838Met Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Thr904Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Val298Leu Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val306Met Uncertain significance Multiple submitters
Inborn genetic diseases
ATP1A2 p.Val440Met Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Val756Ile Uncertain significance Multiple submitters
familial hemiplegic migraine
ATP1A2 p.Ala117Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala433Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala476Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala625Ser Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala659Ser Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala793Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ala921Thr Uncertain significance Single submitter
ATP1A2 p.Arg1008Trp Conflicting Single submitter
developmental and epileptic encephalopathy
ATP1A2 p.Arg225Cys Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg351Gln Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg351Gly Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg51Cys Conflicting Single submitter
migraine, familial hemiplegic, 2
ATP1A2 p.Arg879Trp Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Arg938His Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Asn437Ile Uncertain significance Single submitter
ATP1A2 p.Asn835Asp Uncertain significance Single submitter
ATP1A2 p.Asn873Tyr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Asn939Ser Uncertain significance Single submitter
ATP1A2 p.Asp121Val Uncertain significance Single submitter
ATP1A2 p.Asp31Asn Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Asp31Gly Uncertain significance Single submitter
ATP1A2 p.Asp528Gly Uncertain significance Single submitter
ATP1A2 p.Cys581Arg Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Gln166Lys Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Gln177Lys Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Gln705Arg Uncertain significance Single submitter
ATP1A2 p.Glu174Lys Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Glu182Gly Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Glu182Lys Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Glu232Gln Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Glu232Gly Uncertain significance Single submitter
ATP1A2 p.Glu276Asp Uncertain significance Single submitter
ATP1A2 p.Glu27Lys Uncertain significance Single submitter
ATP1A2 p.Glu27Val Uncertain significance Single submitter
ATP1A2 p.Glu492Lys Conflicting Single submitter
Inborn genetic diseases
ATP1A2 p.Glu524Gln Likely benign Single submitter
Seizure
ATP1A2 p.Glu906Gln Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Glu957Ala Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Gly706Arg Uncertain significance Single submitter
ATP1A2 p.Gly706Glu Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.His288Tyr Conflicting Single submitter
migraine, familial hemiplegic, 2
ATP1A2 p.His500Gln Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Ile518Leu Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ile518Met Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ile630Val Uncertain significance Single submitter
ATP1A2 p.Ile647Thr Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ile733Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ile817Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ile950Met Uncertain significance Single submitter
ATP1A2 p.Leu1006Val Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Leu46Phe Uncertain significance Single submitter
ATP1A2 p.Lys523Met Uncertain significance Single submitter
ATP1A2 p.Lys949Arg Uncertain significance Single submitter
ATP1A2 p.Met468Val Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Met586Leu Uncertain significance Single submitter
ATP1A2 p.Met856Ile Uncertain significance Single submitter
ATP1A2 p.Phe953Leu Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Pro1010Ala Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Pro222Ser Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Pro654His Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ser205Cys Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Ser367Cys Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Ser672Leu Conflicting Single submitter
migraine, familial hemiplegic, 2
ATP1A2 p.Thr517Ala Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Thr517Asn Conflicting Single submitter
alternating hemiplegia of childhood 1
ATP1A2 p.Thr570Met Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Thr757Met Uncertain significance Single submitter
ATP1A2 p.Thr84Ala Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Thr983Ile Uncertain significance Single submitter
ATP1A2 p.Val132Met Uncertain significance Single submitter
ATP1A2 p.Val163Ile Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Val185Ala Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Val185Leu Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Val55Leu Uncertain significance Single submitter
Inborn genetic diseases
ATP1A2 p.Val662Met Uncertain significance Single submitter
familial hemiplegic migraine
ATP1A2 p.Val709Ala Uncertain significance Single submitter
ATP1A2 p.Val191Met Pathogenic No assertion criteria
migraine, familial hemiplegic, 2

All ATP1A2 variants

Pathogenic 57

p.Ala606Thr Multiple submitters Paroxysmal central nervous system disorders
p.Arg548Cys Multiple submitters familial hemiplegic migraine
p.Arg548His Multiple submitters developmental and epileptic encephalopathy 98
p.Arg604Ter Multiple submitters familial hemiplegic migraine
p.Arg834Gln Multiple submitters familial hemiplegic migraine
p.Glu547fs Multiple submitters familial hemiplegic migraine
p.Glu957Ter Multiple submitters polymicrogyria
p.Gly301Arg Multiple submitters familial hemiplegic migraine
p.Gly715Arg Multiple submitters familial hemiplegic migraine
p.Gly855Arg Multiple submitters ATP1A2-related disorder
p.Gly855Glu Multiple submitters familial hemiplegic migraine
p.Ile293Met Multiple submitters Inborn genetic diseases
p.Lys485Ter Multiple submitters familial hemiplegic migraine
p.Pro979Leu Multiple submitters ATP1A2-related disorder
p.Val628Met Multiple submitters familial hemiplegic migraine
c.1216+1G>T Single submitter
c.2285-2A>C Single submitter spastic ataxia
p.Ala13fs Single submitter alternating hemiplegia of childhood 1
p.Ala824_Glu825insTer Single submitter familial hemiplegic migraine
p.Arg202Gln Single submitter familial hemiplegic migraine
p.Arg279fs Single submitter fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Arg469Ter Single submitter familial hemiplegic migraine
p.Arg593Leu Single submitter familial hemiplegic migraine
p.Asn63fs Single submitter familial hemiplegic migraine
p.Asn717Lys Single submitter
p.Asp812His Single submitter familial hemiplegic migraine
p.Asp839fs Single submitter familial hemiplegic migraine
p.Asp999His Single submitter
p.Cys341Phe Single submitter developmental and epileptic encephalopathy 98
p.Cys581Ter Single submitter familial hemiplegic migraine
p.Cys702fs Single submitter familial hemiplegic migraine
p.Gln487Ter Single submitter migraine, familial hemiplegic, 2
p.Gln832Ter Single submitter familial hemiplegic migraine
p.Glu524Ter Single submitter familial hemiplegic migraine
p.Glu760fs Single submitter fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Gly194Ter Single submitter familial hemiplegic migraine
p.Gly366Val Single submitter familial hemiplegic migraine
p.Gly377Val Single submitter familial hemiplegic migraine
p.Ile100fs Single submitter polymicrogyria
p.Ile240fs Single submitter familial hemiplegic migraine
p.Ile286fs Single submitter familial hemiplegic migraine
p.Ile290fs Single submitter familial hemiplegic migraine
p.Ile708fs Single submitter familial hemiplegic migraine
p.Ile995fs Single submitter familial hemiplegic migraine
p.Leu994del Single submitter familial hemiplegic migraine
p.Lys175fs Single submitter familial hemiplegic migraine
p.Lys375Arg Single submitter familial hemiplegic migraine
p.Pro331Ala Single submitter familial hemiplegic migraine
p.Pro786Leu Single submitter familial hemiplegic migraine
p.Thr811Arg Single submitter familial hemiplegic migraine
p.Trp903Ter Single submitter familial hemiplegic migraine
p.Val610fs Single submitter familial hemiplegic migraine
p.Val709fs Single submitter familial hemiplegic migraine
p.Leu764Pro No assertion criteria migraine, familial hemiplegic, 2
p.Thr345Ala No assertion criteria migraine, familial hemiplegic, 2
p.Trp887Arg No assertion criteria migraine, familial hemiplegic, 2
p.Val191Met No assertion criteria migraine, familial hemiplegic, 2 ⚠

Pathogenic/Likely pathogenic 16

p.Ala297Thr Multiple submitters ATP1A2-related disorder
p.Arg1002Gln Multiple submitters familial hemiplegic migraine
p.Arg383His Multiple submitters familial hemiplegic migraine
p.Arg412Ter Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Arg421Ter Multiple submitters familial hemiplegic migraine
p.Arg493Ter Multiple submitters familial hemiplegic migraine
p.Arg908Gln Multiple submitters ATP1A2-related disorder
p.Gly366Ser Multiple submitters developmental and epileptic encephalopathy 98
p.Gly615Arg Multiple submitters familial hemiplegic migraine
p.Gly701fs Multiple submitters familial hemiplegic migraine
p.Met813Lys Multiple submitters developmental and epileptic encephalopathy 98
p.Thr263Met Multiple submitters migraine, familial hemiplegic, 2
p.Thr364Met Multiple submitters ATP1A2-related disorder
p.Thr376Met Multiple submitters ATP1A2-related disorder
p.Thr378Asn Multiple submitters ATP1A2-related disorder
p.Tyr1009Ter Multiple submitters familial hemiplegic migraine

Likely pathogenic 66

p.Arg689Gln Multiple submitters migraine, familial hemiplegic, 2
p.Arg937Cys Multiple submitters alternating hemiplegia of childhood 1
p.Arg937His Multiple submitters Inborn genetic diseases
p.Cys341Tyr Multiple submitters developmental and epileptic encephalopathy 98
p.Gly900Arg Multiple submitters migraine, familial hemiplegic, 2
p.Phe305del Multiple submitters Inborn genetic diseases
c.1017+5G>A Single submitter
c.117+1G>A Single submitter
c.12+1G>A Single submitter familial hemiplegic migraine
c.12+2T>A Single submitter migraine, familial hemiplegic, 2
c.1326+2T>C Single submitter familial hemiplegic migraine
c.1652-1G>T Single submitter familial hemiplegic migraine
c.177+2T>G Single submitter familial hemiplegic migraine
c.178-2A>G Single submitter familial hemiplegic migraine
c.1965-2A>G Single submitter familial hemiplegic migraine
c.2284+1G>A Single submitter familial hemiplegic migraine
c.2440-1G>T Single submitter familial hemiplegic migraine
c.2563+2T>C Single submitter familial hemiplegic migraine
c.381+1G>A Single submitter familial hemiplegic migraine
c.495+2T>C Single submitter familial hemiplegic migraine
c.496-1G>A Single submitter familial hemiplegic migraine
p.Ala606Glu Single submitter
p.Arg202Trp Single submitter familial hemiplegic migraine
p.Arg763Leu Single submitter fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Arg834Leu Single submitter familial hemiplegic migraine
p.Arg937fs Single submitter alternating hemiplegia of childhood
p.Asp930Val Single submitter hemiplegic migraine-developmental and epileptic encephalopathy spectrum
p.Cys143fs Single submitter ATP1A2-related disorder
p.Cys341Arg Single submitter developmental and epileptic encephalopathy 98
p.Gln943Ter Single submitter
p.Glu276Ter Single submitter epilepsy
p.Gly105Glu Single submitter ATP1A2-related disorder
p.Gly295fs Single submitter
p.Gly301Glu Single submitter familial hemiplegic migraine
p.Gly333Arg Single submitter developmental and epileptic encephalopathy
p.Gly544fs Single submitter
p.Gly551Ter Single submitter epilepsy
p.Ile139fs Single submitter fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Ile286Thr Single submitter familial hemiplegic migraine
p.Ile320Asn Single submitter migraine, familial hemiplegic, 2
p.Leu300Pro Single submitter ATP1A2-related disorder
p.Leu379fs Single submitter
p.Leu545fs Single submitter
p.Met731Thr Single submitter migraine, familial hemiplegic, 2
p.Met829Val Single submitter familial hemiplegic migraine
p.Pro796Arg Single submitter
p.Pro815Arg Single submitter migraine, familial hemiplegic, 2
p.Pro979Lys Single submitter alternating hemiplegia of childhood 1
p.Ser691fs Single submitter
p.Ser691Phe Single submitter
p.Ser779Asn Single submitter alternating hemiplegia of childhood 1
p.Ter1021Arg Single submitter
p.Ter1021TyrextTer? Single submitter
p.Thr368Met Single submitter familial hemiplegic migraine
p.Thr378Pro Single submitter developmental and epileptic encephalopathy 98
p.Thr690Lys Single submitter migraine, familial hemiplegic, 2
p.Thr712Met Single submitter migraine, familial hemiplegic, 2
p.Tyr775Asp Single submitter
p.Val362Met Single submitter
p.Val600Ala Single submitter
p.Val88fs Single submitter ATP1A2-related disorder
p.Val926Leu Single submitter
c.1216+1G>A No assertion criteria ATP1A2-related disorder
c.2285-1G>A No assertion criteria ATP1A2-related disorder
p.Arg1008fs No assertion criteria hemiplegia
p.Ile630Leu No assertion criteria migraine, familial hemiplegic, 2

Conflicting classifications of pathogenicity 86

c.1216+5T>C Single submitter familial hemiplegic migraine
c.1216+5T>G Single submitter familial hemiplegic migraine
c.1652-8C>T Single submitter familial hemiplegic migraine
c.1827+13C>T Single submitter familial hemiplegic migraine
c.2115+8C>T Single submitter familial hemiplegic migraine
c.2116-19G>A Single submitter familial hemiplegic migraine
c.2285-7C>T Single submitter alternating hemiplegia of childhood 1
c.2439+6C>T Single submitter familial hemiplegic migraine
c.2563+15G>A Single submitter familial hemiplegic migraine
c.2564-14C>T Single submitter familial hemiplegic migraine
c.3034+6C>A Single submitter familial hemiplegic migraine
c.748+1G>C Single submitter Inborn genetic diseases
c.*932T>C Single submitter migraine, familial hemiplegic, 2
p.Ala272Thr Single submitter familial hemiplegic migraine ⚠
p.Ala283Val Single submitter familial hemiplegic migraine ⚠
p.Ala318Glu Single submitter familial hemiplegic migraine ⚠
p.Ala643Gly Single submitter familial hemiplegic migraine ⚠
p.Arg1007Gln Single submitter familial hemiplegic migraine ⚠
p.Arg1007Trp Single submitter familial hemiplegic migraine ⚠
p.Arg1008Trp Single submitter developmental and epileptic encephalopathy ⚠
p.Arg279Gln Single submitter Inborn genetic diseases ⚠
p.Arg348Cys Single submitter familial hemiplegic migraine ⚠
p.Arg3His Single submitter familial hemiplegic migraine ⚠
p.Arg421Gln Single submitter alternating hemiplegia of childhood 1 ⚠
p.Arg51Cys Single submitter migraine, familial hemiplegic, 2 ⚠
p.Arg51His Single submitter familial hemiplegic migraine ⚠
p.Arg564Gln Single submitter fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies ⚠
p.Arg593Gln Single submitter ATP1A2-related disorder ⚠
p.Arg593Trp Single submitter ATP1A2-related disorder ⚠
p.Arg604Gln Single submitter familial hemiplegic migraine ⚠
p.Arg65Leu Single submitter developmental and epileptic encephalopathy 98 ⚠
p.Arg763His Single submitter familial hemiplegic migraine ⚠
p.Arg834Ter Single submitter familial hemiplegic migraine
p.Asn127= Single submitter familial hemiplegic migraine
p.Asn382= Single submitter migraine, familial hemiplegic, 2
p.Asn556Tyr Single submitter familial hemiplegic migraine ⚠
p.Asp470Glu Single submitter familial hemiplegic migraine ⚠
p.Asp528Asn Single submitter familial hemiplegic migraine ⚠
p.Asp718Asn Single submitter familial hemiplegic migraine ⚠
p.Cys209= Single submitter familial hemiplegic migraine
p.Cys915= Single submitter familial hemiplegic migraine
p.Gln532Glu Single submitter Inborn genetic diseases ⚠
p.Glu120= Single submitter Inborn genetic diseases
p.Glu492Lys Single submitter Inborn genetic diseases ⚠
p.Gly324Ser Single submitter developmental and epileptic encephalopathy 98 ⚠
p.Gly551Arg Single submitter fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies ⚠
p.Gly607= Single submitter Inborn genetic diseases
p.Gly762Ser Single submitter Inborn genetic diseases ⚠
p.Gly874= Single submitter familial hemiplegic migraine
p.Gly874Ser Single submitter familial hemiplegic migraine ⚠
p.His288Tyr Single submitter migraine, familial hemiplegic, 2 ⚠
p.Ile647Val Single submitter familial hemiplegic migraine ⚠
p.Ile729= Single submitter familial hemiplegic migraine
p.Ile804= Single submitter familial hemiplegic migraine
p.Ile854= Single submitter familial hemiplegic migraine
p.Leu102Pro Single submitter familial hemiplegic migraine ⚠
p.Lys567Arg Single submitter Inborn genetic diseases ⚠
p.Lys840= Single submitter familial hemiplegic migraine
p.Met829Thr Single submitter familial hemiplegic migraine ⚠
p.Phe95= Single submitter familial hemiplegic migraine
p.Pro526= Single submitter familial hemiplegic migraine
p.Pro558= Single submitter migraine, familial hemiplegic, 2
p.Pro979Arg Single submitter alternating hemiplegia of childhood 1 ⚠
p.Ser220Leu Single submitter familial hemiplegic migraine ⚠
p.Ser303= Single submitter familial hemiplegic migraine
p.Ser499Asn Single submitter Inborn genetic diseases ⚠
p.Ser672Leu Single submitter migraine, familial hemiplegic, 2 ⚠
p.Thr15= Single submitter migraine, familial hemiplegic, 2
p.Thr15Met Single submitter Inborn genetic diseases ⚠
p.Thr343Ile Single submitter familial hemiplegic migraine ⚠
p.Thr376Arg Single submitter familial hemiplegic migraine ⚠
p.Thr378Ile Single submitter hemiplegic migraine-developmental and epileptic encephalopathy spectrum ⚠
p.Thr517Asn Single submitter alternating hemiplegia of childhood 1 ⚠
p.Thr577Met Single submitter Inborn genetic diseases ⚠
p.Thr757= Single submitter familial hemiplegic migraine
p.Thr917= Single submitter Inborn genetic diseases
p.Thr959Met Single submitter familial hemiplegic migraine ⚠
p.Tyr851Cys Single submitter ⚠
p.Tyr991= Single submitter Inborn genetic diseases
p.Tyr9Asn Single submitter Inborn genetic diseases ⚠
p.Val191= Single submitter familial hemiplegic migraine
p.Val197Ile Single submitter familial hemiplegic migraine ⚠
p.Val330Met Single submitter Inborn genetic diseases ⚠
p.Val430Ile Single submitter familial hemiplegic migraine ⚠
p.Val69Ile Single submitter familial hemiplegic migraine ⚠
p.Val842= Single submitter familial hemiplegic migraine

Benign 95

c.1017+56G>A Multiple submitters alternating hemiplegia of childhood 1
c.12+205A>C Multiple submitters
c.12+292A>C Multiple submitters
c.13-11_13-8del Multiple submitters migraine, familial hemiplegic, 2
c.13-22T>C Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.1326+49dup Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.1651+49C>T Multiple submitters developmental and epileptic encephalopathy 98
c.177+95T>C Multiple submitters developmental and epileptic encephalopathy 98
c.2115+14C>T Multiple submitters developmental and epileptic encephalopathy 98
c.2284+18G>T Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.2709+26G>A Multiple submitters developmental and epileptic encephalopathy 98
c.2840+176C>T Multiple submitters
c.2841-20dup Multiple submitters developmental and epileptic encephalopathy 98
c.2943-27G>C Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.2943-47C>G Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.3034+14C>T Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.3034+61G>A Multiple submitters developmental and epileptic encephalopathy 98
c.382-41G>T Multiple submitters
c.382-85G>A Multiple submitters developmental and epileptic encephalopathy 98
c.495+65T>C Multiple submitters alternating hemiplegia of childhood 1
c.495+81T>A Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.495+96G>A Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.630+123T>C Multiple submitters
c.630+238A>G Multiple submitters
c.748+84T>A Multiple submitters alternating hemiplegia of childhood 1
c.749-27C>A Multiple submitters
c.-48C>G Multiple submitters developmental and epileptic encephalopathy 98
c.*1026A>G Multiple submitters developmental and epileptic encephalopathy 98
c.*1095T>A Multiple submitters developmental and epileptic encephalopathy 98
c.*1211C>A Multiple submitters migraine, familial hemiplegic, 2
c.*1280G>A Multiple submitters alternating hemiplegia of childhood 1
c.*1284C>T Multiple submitters migraine, familial hemiplegic, 2
c.*1547G>T Multiple submitters alternating hemiplegia of childhood 1
c.*1548C>T Multiple submitters alternating hemiplegia of childhood 1
c.*1629T>C Multiple submitters alternating hemiplegia of childhood 1
c.*1780G>A Multiple submitters migraine, familial hemiplegic, 2
c.*2259T>A Multiple submitters alternating hemiplegia of childhood 1
c.*253C>T Multiple submitters migraine, familial hemiplegic, 2
c.*546G>A Multiple submitters alternating hemiplegia of childhood 1
c.*589G>C Multiple submitters alternating hemiplegia of childhood 1
c.*682T>C Multiple submitters migraine, familial hemiplegic, 2
c.*686G>A Multiple submitters alternating hemiplegia of childhood 1
c.*703G>A Multiple submitters developmental and epileptic encephalopathy 98
c.*72G>A Multiple submitters developmental and epileptic encephalopathy 98
c.*746C>T Multiple submitters developmental and epileptic encephalopathy 98
c.*748C>T Multiple submitters developmental and epileptic encephalopathy 98
p.Ala753= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Cys660= Multiple submitters Inborn genetic diseases
p.Cys987= Multiple submitters Inborn genetic diseases
p.Lys43= Multiple submitters familial hemiplegic migraine
p.Ser373= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.1217-15dup Single submitter familial hemiplegic migraine
c.13-11T>C Single submitter
c.13-13del Single submitter
c.13-19C>T Single submitter familial hemiplegic migraine
c.13-237T>G Single submitter
c.1652-6del Single submitter familial hemiplegic migraine
c.177+305G>A Single submitter
c.1828-248CA[10] Single submitter
c.1828-248CA[11] Single submitter
c.1828-248CA[12] Single submitter
c.1828-248CA[8] Single submitter
c.1828-269CA[4] Single submitter
c.1828-300C>T Single submitter
c.1964+39A>C Single submitter
c.1965-214A>C Single submitter
c.2116-8C>G Single submitter familial hemiplegic migraine
c.2285-47G>A Single submitter
c.2285-86T>C Single submitter
c.2440-10C>T Single submitter familial hemiplegic migraine
c.2709+43C>T Single submitter
c.2841-243A>G Single submitter
c.2943-19T>A Single submitter familial hemiplegic migraine
c.3034+23dup Single submitter familial hemiplegic migraine
c.3035-143C>T Single submitter
c.3035-152A>G Single submitter
c.3035-168A>G Single submitter
c.3035-185A>G Single submitter
c.3035-196A>G Single submitter
c.3035-272C>T Single submitter
c.3035-277T>C Single submitter
c.631-282A>G Single submitter
c.748+21dup Single submitter familial hemiplegic migraine
c.748+246dup Single submitter
c.749-13del Single submitter familial hemiplegic migraine
c.-371A>T Single submitter
c.*1000T>G Single submitter alternating hemiplegia of childhood 1
c.*1212G>C Single submitter alternating hemiplegia of childhood 1
c.*1355C>T Single submitter migraine, familial hemiplegic, 2
c.*142A>G Single submitter alternating hemiplegia of childhood 1
c.*1781C>T Single submitter migraine, familial hemiplegic, 2
c.*482A>C Single submitter alternating hemiplegia of childhood 1
c.*621A>G Single submitter alternating hemiplegia of childhood 1
c.*86G>A Single submitter alternating hemiplegia of childhood 1
c.*9GAA[2] Single submitter

Benign/Likely benign 41

c.13-15_13-12del Multiple submitters familial hemiplegic migraine
c.1326+8del Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.1652-11C>G Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.1652-18C>A Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.1652-7C>A Multiple submitters developmental and epileptic encephalopathy 98
c.1652-7C>G Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.178-21C>T Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.2116-14C>T Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.2563+14C>T Multiple submitters familial hemiplegic migraine
c.2563+4C>T Multiple submitters developmental and epileptic encephalopathy 98
c.2564-8A>G Multiple submitters familial hemiplegic migraine
c.2709+11C>T Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.2943-15C>T Multiple submitters alternating hemiplegia of childhood 1
c.381+16C>T Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.631-16A>G Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
c.*15G>A Multiple submitters alternating hemiplegia of childhood 1
p.Ala429= Multiple submitters familial hemiplegic migraine
p.Ala710= Multiple submitters familial hemiplegic migraine
p.Arg196= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Asn472Ser Multiple submitters Inborn genetic diseases
p.Asp157= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Asp714= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Glu524= Multiple submitters developmental and epileptic encephalopathy 98
p.Gly114Ser Multiple submitters alternating hemiplegia of childhood 1 ⚠
p.Gly758Ala Multiple submitters familial hemiplegic migraine
p.His500= Multiple submitters familial hemiplegic migraine
p.Ile323= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Ile490= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Lys375= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Phe568= Multiple submitters developmental and epileptic encephalopathy 98
p.Phe989= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Pro82= Multiple submitters Inborn genetic diseases
p.Ser439= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Ser587= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Thr263= Multiple submitters Inborn genetic diseases
p.Thr376= Multiple submitters developmental and epileptic encephalopathy 98
p.Thr401= Multiple submitters Inborn genetic diseases
p.Thr838= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Thr959= Multiple submitters fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies
p.Tyr113= Multiple submitters familial hemiplegic migraine
c.*1000T>A Single submitter migraine, familial hemiplegic, 2

Likely benign 505

Showing the top 300 by review status; the full set is in the sitemap.

c.1017+9G>T Multiple submitters familial hemiplegic migraine
c.1018-15_1018-13del Multiple submitters familial hemiplegic migraine
c.1018-5A>G Multiple submitters Inborn genetic diseases
c.1216+12C>T Multiple submitters familial hemiplegic migraine
c.1216+14C>G Multiple submitters familial hemiplegic migraine
c.1327-12C>G Multiple submitters familial hemiplegic migraine
c.1461+91G>C Multiple submitters
c.1652-6C>A Multiple submitters familial hemiplegic migraine
c.1652-8C>A Multiple submitters familial hemiplegic migraine
c.178-20G>A Multiple submitters familial hemiplegic migraine
c.178-79G>A Multiple submitters
c.1964+14A>G Multiple submitters familial hemiplegic migraine
c.2115+15G>A Multiple submitters familial hemiplegic migraine
c.2115+19G>A Multiple submitters familial hemiplegic migraine
c.2284+8G>C Multiple submitters familial hemiplegic migraine
c.2439+13G>A Multiple submitters familial hemiplegic migraine
c.2440-14C>T Multiple submitters familial hemiplegic migraine
c.2709+13G>A Multiple submitters familial hemiplegic migraine
c.2709+16T>A Multiple submitters familial hemiplegic migraine
c.2709+17A>G Multiple submitters familial hemiplegic migraine
c.2710-19C>G Multiple submitters familial hemiplegic migraine
c.2840+36G>A Multiple submitters
c.2942+11C>G Multiple submitters familial hemiplegic migraine
c.2942+16G>A Multiple submitters familial hemiplegic migraine
c.2942+19C>T Multiple submitters familial hemiplegic migraine
c.2943-75C>G Multiple submitters
c.3035-119A>G Multiple submitters
c.381+12C>T Multiple submitters familial hemiplegic migraine
c.381+13G>A Multiple submitters familial hemiplegic migraine
c.381+13G>T Multiple submitters familial hemiplegic migraine
c.495+9G>T Multiple submitters familial hemiplegic migraine
c.496-15T>C Multiple submitters familial hemiplegic migraine
p.Ala361= Multiple submitters familial hemiplegic migraine
p.Ala743= Multiple submitters familial hemiplegic migraine
p.Arg171= Multiple submitters familial hemiplegic migraine
p.Arg428= Multiple submitters Inborn genetic diseases
p.Arg593= Multiple submitters familial hemiplegic migraine
p.Arg644= Multiple submitters familial hemiplegic migraine
p.Arg65= Multiple submitters familial hemiplegic migraine
p.Arg879Gln Multiple submitters familial hemiplegic migraine
p.Arg890= Multiple submitters familial hemiplegic migraine
p.Asn329= Multiple submitters familial hemiplegic migraine
p.Asn358= Multiple submitters familial hemiplegic migraine
p.Asn653= Multiple submitters familial hemiplegic migraine
p.Asn717= Multiple submitters familial hemiplegic migraine
p.Asp444= Multiple submitters familial hemiplegic migraine
p.Asp737= Multiple submitters familial hemiplegic migraine
p.Asp930= Multiple submitters familial hemiplegic migraine
p.Gln177= Multiple submitters familial hemiplegic migraine
p.Gln394= Multiple submitters familial hemiplegic migraine
p.Glu36= Multiple submitters familial hemiplegic migraine
p.Glu530= Multiple submitters familial hemiplegic migraine
p.Gly627= Multiple submitters Inborn genetic diseases
p.Gly97= Multiple submitters familial hemiplegic migraine
p.Gly972= Multiple submitters familial hemiplegic migraine
p.His491= Multiple submitters familial hemiplegic migraine
p.His663= Multiple submitters familial hemiplegic migraine
p.Ile525= Multiple submitters familial hemiplegic migraine
p.Ile923= Multiple submitters familial hemiplegic migraine
p.Leu235= Multiple submitters familial hemiplegic migraine
p.Leu271= Multiple submitters familial hemiplegic migraine
p.Leu696= Multiple submitters familial hemiplegic migraine
p.Leu809= Multiple submitters familial hemiplegic migraine
p.Leu885= Multiple submitters familial hemiplegic migraine
p.Leu895= Multiple submitters Inborn genetic diseases
p.Leu965= Multiple submitters familial hemiplegic migraine
p.Lys347= Multiple submitters familial hemiplegic migraine
p.Lys456= Multiple submitters Inborn genetic diseases
p.Lys579Glu Multiple submitters Inborn genetic diseases
p.Phe305= Multiple submitters familial hemiplegic migraine
p.Phe575= Multiple submitters familial hemiplegic migraine
p.Pro227= Multiple submitters familial hemiplegic migraine
p.Pro654= Multiple submitters familial hemiplegic migraine
p.Ser496= Multiple submitters familial hemiplegic migraine
p.Ser605= Multiple submitters familial hemiplegic migraine
p.Ser672= Multiple submitters Inborn genetic diseases
p.Thr370= Multiple submitters familial hemiplegic migraine
p.Thr385= Multiple submitters familial hemiplegic migraine
p.Thr417= Multiple submitters familial hemiplegic migraine
p.Thr570= Multiple submitters familial hemiplegic migraine
p.Thr614= Multiple submitters familial hemiplegic migraine
p.Thr637= Multiple submitters Inborn genetic diseases
p.Thr690= Multiple submitters Inborn genetic diseases
p.Thr712= Multiple submitters Inborn genetic diseases
p.Thr801= Multiple submitters familial hemiplegic migraine
p.Tyr851= Multiple submitters familial hemiplegic migraine
p.Val296= Multiple submitters familial hemiplegic migraine
p.Val386= Multiple submitters familial hemiplegic migraine
p.Val501Met Multiple submitters alternating hemiplegia of childhood 1
p.Val759= Multiple submitters familial hemiplegic migraine
c.1017+10T>C Single submitter familial hemiplegic migraine
c.1017+10T>G Single submitter familial hemiplegic migraine
c.1017+15C>T Single submitter familial hemiplegic migraine
c.1017+20G>T Single submitter familial hemiplegic migraine
c.1017+7G>A Single submitter familial hemiplegic migraine
c.1018-11T>G Single submitter familial hemiplegic migraine
c.1018-12T>C Single submitter familial hemiplegic migraine
c.1018-15C>T Single submitter familial hemiplegic migraine
c.1018-19T>C Single submitter familial hemiplegic migraine
c.1018-4C>T Single submitter familial hemiplegic migraine
c.117+19C>T Single submitter familial hemiplegic migraine
c.117+83G>A Single submitter
c.118-11C>A Single submitter familial hemiplegic migraine
c.118-16A>T Single submitter familial hemiplegic migraine
c.118-18T>C Single submitter familial hemiplegic migraine
c.118-19C>T Single submitter familial hemiplegic migraine
c.12+10C>T Single submitter familial hemiplegic migraine
c.12+11C>T Single submitter familial hemiplegic migraine
c.12+12T>A Single submitter familial hemiplegic migraine
c.12+12T>G Single submitter familial hemiplegic migraine
c.12+16del Single submitter familial hemiplegic migraine
c.12+80G>T Single submitter
c.12+9C>T Single submitter familial hemiplegic migraine
c.1216+13T>C Single submitter familial hemiplegic migraine
c.1216+14C>T Single submitter familial hemiplegic migraine
c.1216+18A>G Single submitter familial hemiplegic migraine
c.1216+20G>A Single submitter familial hemiplegic migraine
c.1216+48G>A Single submitter
c.1216+7G>T Single submitter familial hemiplegic migraine
c.1216+8G>A Single submitter familial hemiplegic migraine
c.1216+8G>T Single submitter familial hemiplegic migraine
c.1216+9G>C Single submitter familial hemiplegic migraine
c.1217-12_1217-5del Single submitter familial hemiplegic migraine
c.1217-16C>T Single submitter familial hemiplegic migraine
c.1217-18C>A Single submitter familial hemiplegic migraine
c.1217-18C>T Single submitter
c.1217-4C>T Single submitter familial hemiplegic migraine
c.1217-8C>T Single submitter familial hemiplegic migraine
c.1217-9T>C Single submitter familial hemiplegic migraine
c.13-11T>G Single submitter familial hemiplegic migraine
c.13-20G>A Single submitter familial hemiplegic migraine
c.13-20G>C Single submitter familial hemiplegic migraine
c.13-4T>A Single submitter familial hemiplegic migraine
c.13-4T>G Single submitter familial hemiplegic migraine
c.13-5C>T Single submitter familial hemiplegic migraine
c.13-6C>A Single submitter familial hemiplegic migraine
c.13-8T>A Single submitter familial hemiplegic migraine
c.13-9C>T Single submitter
c.1326+13G>A Single submitter familial hemiplegic migraine
c.1326+14AC[5] Single submitter familial hemiplegic migraine
c.1326+15C>A Single submitter familial hemiplegic migraine
c.1326+15C>T Single submitter familial hemiplegic migraine
c.1326+19C>G Single submitter familial hemiplegic migraine
c.1326+7G>A Single submitter familial hemiplegic migraine
c.1326+8G>T Single submitter familial hemiplegic migraine
c.1327-11T>A Single submitter familial hemiplegic migraine
c.1327-14G>A Single submitter familial hemiplegic migraine
c.1327-14G>T Single submitter familial hemiplegic migraine
c.1327-19T>C Single submitter familial hemiplegic migraine
c.1327-6T>C Single submitter familial hemiplegic migraine
c.1461+10G>A Single submitter familial hemiplegic migraine
c.1461+11G>T Single submitter familial hemiplegic migraine
c.1461+15C>T Single submitter familial hemiplegic migraine
c.1461+19G>A Single submitter familial hemiplegic migraine
c.1461+9G>C Single submitter familial hemiplegic migraine
c.1462-10G>C Single submitter familial hemiplegic migraine
c.1462-13G>A Single submitter familial hemiplegic migraine
c.1462-15C>G Single submitter familial hemiplegic migraine
c.1462-17A>G Single submitter familial hemiplegic migraine
c.1462-5T>A Single submitter
c.1651+18G>T Single submitter familial hemiplegic migraine
c.1651+7G>A Single submitter familial hemiplegic migraine
c.1652-17C>T Single submitter familial hemiplegic migraine
c.1652-19C>T Single submitter familial hemiplegic migraine
c.1652-6C>G Single submitter familial hemiplegic migraine
c.1652-6C>T Single submitter
c.1652-8C>G Single submitter familial hemiplegic migraine
c.177+14_177+22del Single submitter familial hemiplegic migraine
c.177+14C>T Single submitter familial hemiplegic migraine
c.177+17C>T Single submitter familial hemiplegic migraine
c.177+20G>C Single submitter
c.177+21G>C Single submitter
c.178-14C>T Single submitter familial hemiplegic migraine
c.178-16C>G Single submitter familial hemiplegic migraine
c.178-16C>T Single submitter familial hemiplegic migraine
c.178-7C>A Single submitter familial hemiplegic migraine
c.1827+10del Single submitter familial hemiplegic migraine
c.1827+134A>G Single submitter
c.1827+17C>T Single submitter familial hemiplegic migraine
c.1827+19C>T Single submitter familial hemiplegic migraine
c.1827+38C>T Single submitter
c.1827+8C>A Single submitter familial hemiplegic migraine
c.1827+8C>T Single submitter familial hemiplegic migraine
c.1828-12C>T Single submitter familial hemiplegic migraine
c.1828-13T>G Single submitter familial hemiplegic migraine
c.1964+12del Single submitter familial hemiplegic migraine
c.1964+13C>A Single submitter familial hemiplegic migraine
c.1964+15G>A Single submitter familial hemiplegic migraine
c.1964+16G>A Single submitter familial hemiplegic migraine
c.1964+18A>G Single submitter familial hemiplegic migraine
c.1965-11C>T Single submitter familial hemiplegic migraine
c.1965-12C>T Single submitter familial hemiplegic migraine
c.1965-130G>T Single submitter
c.1965-14C>A Single submitter familial hemiplegic migraine
c.1965-15C>T Single submitter familial hemiplegic migraine
c.1965-189T>C Single submitter
c.1965-36_1965-12del Single submitter familial hemiplegic migraine
c.1965-6C>A Single submitter familial hemiplegic migraine
c.1965-7C>A Single submitter familial hemiplegic migraine
c.1965-9A>T Single submitter familial hemiplegic migraine
c.2115+17G>A Single submitter familial hemiplegic migraine
c.2116-12T>C Single submitter familial hemiplegic migraine
c.2116-13G>A Single submitter familial hemiplegic migraine
c.2116-13G>C Single submitter familial hemiplegic migraine
c.2116-14C>G Single submitter familial hemiplegic migraine
c.2116-16G>T Single submitter familial hemiplegic migraine
c.2116-17G>T Single submitter familial hemiplegic migraine
c.2116-18T>C Single submitter familial hemiplegic migraine
c.2116-20T>C Single submitter familial hemiplegic migraine
c.2116-4C>T Single submitter familial hemiplegic migraine
c.2116-7C>A Single submitter familial hemiplegic migraine
c.2284+12G>A Single submitter familial hemiplegic migraine
c.2284+15T>C Single submitter familial hemiplegic migraine
c.2284+17G>C Single submitter familial hemiplegic migraine
c.2284+9G>C Single submitter familial hemiplegic migraine
c.2285-20C>T Single submitter familial hemiplegic migraine
c.2439+11G>A Single submitter familial hemiplegic migraine
c.2439+14G>A Single submitter familial hemiplegic migraine
c.2439+7G>A Single submitter familial hemiplegic migraine
c.2440-26C>T Single submitter
c.2440-27_2440-16del Single submitter familial hemiplegic migraine
c.2440-6A>C Single submitter familial hemiplegic migraine
c.2440-7C>G Single submitter familial hemiplegic migraine
c.2563+17G>A Single submitter
c.2563+7C>A Single submitter familial hemiplegic migraine
c.2563+9A>G Single submitter familial hemiplegic migraine
c.2564-10C>T Single submitter familial hemiplegic migraine
c.2564-12C>T Single submitter familial hemiplegic migraine
c.2564-5C>T Single submitter familial hemiplegic migraine
c.2709+89del Single submitter
c.2710-10C>T Single submitter familial hemiplegic migraine
c.2710-12C>A Single submitter familial hemiplegic migraine
c.2710-12C>T Single submitter familial hemiplegic migraine
c.2710-15_2710-14del Single submitter familial hemiplegic migraine
c.2710-16C>T Single submitter familial hemiplegic migraine
c.2840+10C>T Single submitter familial hemiplegic migraine
c.2840+10del Single submitter familial hemiplegic migraine
c.2840+12C>A Single submitter familial hemiplegic migraine
c.2840+14C>T Single submitter familial hemiplegic migraine
c.2840+17A>G Single submitter familial hemiplegic migraine
c.2840+7G>T Single submitter familial hemiplegic migraine
c.2841-17C>T Single submitter
c.2841-18C>G Single submitter familial hemiplegic migraine
c.2841-20C>T Single submitter familial hemiplegic migraine
c.2841-4T>C Single submitter familial hemiplegic migraine
c.2841-7C>T Single submitter
c.2841-8C>T Single submitter familial hemiplegic migraine
c.2942+12_2942+15del Single submitter familial hemiplegic migraine
c.2942+15C>G Single submitter familial hemiplegic migraine
c.2942+15C>T Single submitter familial hemiplegic migraine
c.2942+16G>C Single submitter familial hemiplegic migraine
c.2942+19C>A Single submitter familial hemiplegic migraine
c.2942+20G>A Single submitter familial hemiplegic migraine
c.2942+9C>T Single submitter familial hemiplegic migraine
c.2943-11A>G Single submitter familial hemiplegic migraine
c.2943-11A>T Single submitter familial hemiplegic migraine
c.2943-18C>G Single submitter familial hemiplegic migraine
c.3034+13A>G Single submitter familial hemiplegic migraine
c.3034+16T>C Single submitter familial hemiplegic migraine
c.3034+17T>G Single submitter familial hemiplegic migraine
c.3034+18C>T Single submitter familial hemiplegic migraine
c.3034+20_3034+23del Single submitter familial hemiplegic migraine
c.3034+275C>T Single submitter
c.3035-284A>T Single submitter
c.3035-286G>A Single submitter
c.3035-9C>T Single submitter familial hemiplegic migraine
c.381+13G>C Single submitter familial hemiplegic migraine
c.381+19C>A Single submitter familial hemiplegic migraine
c.381+19C>G Single submitter familial hemiplegic migraine
c.382-12del Single submitter familial hemiplegic migraine
c.382-17C>T Single submitter familial hemiplegic migraine
c.495+10C>G Single submitter familial hemiplegic migraine
c.495+10dup Single submitter familial hemiplegic migraine
c.495+11A>C Single submitter familial hemiplegic migraine
c.495+14G>A Single submitter familial hemiplegic migraine
c.495+17G>A Single submitter familial hemiplegic migraine
c.495+18G>C Single submitter familial hemiplegic migraine
c.495+7T>C Single submitter familial hemiplegic migraine
c.495+7T>G Single submitter familial hemiplegic migraine
c.496-11G>T Single submitter familial hemiplegic migraine
c.496-14G>A Single submitter familial hemiplegic migraine
c.496-14G>T Single submitter familial hemiplegic migraine
c.496-5C>G Single submitter familial hemiplegic migraine
c.630+8G>A Single submitter familial hemiplegic migraine
c.631-14T>G Single submitter familial hemiplegic migraine
c.631-16A>T Single submitter familial hemiplegic migraine
c.631-17C>A Single submitter familial hemiplegic migraine
c.631-17C>T Single submitter familial hemiplegic migraine
c.631-18G>A Single submitter familial hemiplegic migraine
c.631-231T>G Single submitter
c.631-9C>T Single submitter familial hemiplegic migraine
c.748+16G>T Single submitter familial hemiplegic migraine
c.748+18C>T Single submitter familial hemiplegic migraine
c.749-16C>A Single submitter familial hemiplegic migraine
c.749-16C>T Single submitter familial hemiplegic migraine
c.749-20G>T Single submitter familial hemiplegic migraine
c.749-210A>G Single submitter
c.749-4G>A Single submitter familial hemiplegic migraine
c.-14C>G Single submitter
c.-30G>A Single submitter

Uncertain significance 678

Showing the top 300 by review status; the full set is in the sitemap.

c.117+3G>A Multiple submitters familial hemiplegic migraine
c.1461+5G>A Multiple submitters familial hemiplegic migraine
c.2115+5G>A Multiple submitters
c.2439+5G>A Multiple submitters familial hemiplegic migraine
c.2563+3G>C Multiple submitters familial hemiplegic migraine
c.2840+5G>A Multiple submitters familial hemiplegic migraine
p.Ala117Val Multiple submitters familial hemiplegic migraine ⚠
p.Ala13Thr Multiple submitters familial hemiplegic migraine ⚠
p.Ala13Val Multiple submitters Inborn genetic diseases ⚠
p.Ala361Val Multiple submitters familial hemiplegic migraine ⚠
p.Ala387Val Multiple submitters familial hemiplegic migraine ⚠
p.Ala418Val Multiple submitters familial hemiplegic migraine ⚠
p.Ala606Ser Multiple submitters ⚠
p.Ala688Ser Multiple submitters familial hemiplegic migraine ⚠
p.Ala707Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala710Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala871Thr Multiple submitters familial hemiplegic migraine ⚠
p.Ala960Val Multiple submitters Inborn genetic diseases ⚠
p.Ala963Thr Multiple submitters familial hemiplegic migraine ⚠
p.Arg1002Gly Multiple submitters familial hemiplegic migraine ⚠
p.Arg1007Pro Multiple submitters ⚠
p.Arg1008Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg171Trp Multiple submitters familial hemiplegic migraine ⚠
p.Arg196Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg225His Multiple submitters familial hemiplegic migraine ⚠
p.Arg238Cys Multiple submitters ATP1A2-related disorder ⚠
p.Arg262Gln Multiple submitters familial hemiplegic migraine ⚠
p.Arg262Trp Multiple submitters familial hemiplegic migraine ⚠
p.Arg267Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg267His Multiple submitters familial hemiplegic migraine ⚠
p.Arg348His Multiple submitters Inborn genetic diseases ⚠
p.Arg383Leu Multiple submitters familial hemiplegic migraine ⚠
p.Arg3Cys Multiple submitters familial hemiplegic migraine ⚠
p.Arg412Gln Multiple submitters familial hemiplegic migraine ⚠
p.Arg428Cys Multiple submitters alternating hemiplegia of childhood 1 ⚠
p.Arg428His Multiple submitters familial hemiplegic migraine ⚠
p.Arg443Gln Multiple submitters familial hemiplegic migraine ⚠
p.Arg443Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg469Lys Multiple submitters familial hemiplegic migraine ⚠
p.Arg471Thr Multiple submitters familial hemiplegic migraine ⚠
p.Arg493Gln Multiple submitters familial hemiplegic migraine ⚠
p.Arg510Cys Multiple submitters familial hemiplegic migraine ⚠
p.Arg514Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg514Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg514Trp Multiple submitters familial hemiplegic migraine ⚠
p.Arg51Leu Multiple submitters familial hemiplegic migraine ⚠
p.Arg564Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg644Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg644Trp Multiple submitters migraine, familial hemiplegic, 2 ⚠
p.Arg655Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg65Trp Multiple submitters familial hemiplegic migraine ⚠
p.Arg72Gln Multiple submitters developmental and epileptic encephalopathy 98 ⚠
p.Arg763Cys Multiple submitters ATP1A2-related disorder ⚠
p.Arg7Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg7His Multiple submitters familial hemiplegic migraine ⚠
p.Arg831Trp Multiple submitters familial hemiplegic migraine ⚠
p.Arg890Gln Multiple submitters familial hemiplegic migraine ⚠
p.Arg890Trp Multiple submitters familial hemiplegic migraine ⚠
p.Arg908Trp Multiple submitters familial hemiplegic migraine ⚠
p.Arg92Cys Multiple submitters familial hemiplegic migraine ⚠
p.Arg92His Multiple submitters Inborn genetic diseases ⚠
p.Arg976Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn161Asp Multiple submitters familial hemiplegic migraine ⚠
p.Asn246Asp Multiple submitters familial hemiplegic migraine ⚠
p.Asn437Ser Multiple submitters familial hemiplegic migraine ⚠
p.Asp392Asn Multiple submitters familial hemiplegic migraine ⚠
p.Asp533His Multiple submitters familial hemiplegic migraine ⚠
p.Asp590Val Multiple submitters familial hemiplegic migraine ⚠
p.Asp676Asn Multiple submitters familial hemiplegic migraine ⚠
p.Asp68Tyr Multiple submitters familial hemiplegic migraine ⚠
p.Asp714Glu Multiple submitters ⚠
p.Asp737Gly Multiple submitters familial hemiplegic migraine ⚠
p.Asp744Asn Multiple submitters familial hemiplegic migraine ⚠
p.Asp894Tyr Multiple submitters migraine, familial hemiplegic, 2 ⚠
p.Cys354Tyr Multiple submitters familial hemiplegic migraine ⚠
p.Cys457Arg Multiple submitters familial hemiplegic migraine ⚠
p.Gln54Lys Multiple submitters familial hemiplegic migraine ⚠
p.Gln554Leu Multiple submitters familial hemiplegic migraine ⚠
p.Gln64His Multiple submitters Inborn genetic diseases ⚠
p.Glu228Asp Multiple submitters familial hemiplegic migraine ⚠
p.Glu332Gln Multiple submitters developmental and epileptic encephalopathy 98 ⚠
p.Glu572Lys Multiple submitters ATP1A2-associated neurological disorder ⚠
p.Glu760Asp Multiple submitters familial hemiplegic migraine ⚠
p.Gly1011Cys Multiple submitters familial hemiplegic migraine ⚠
p.Gly19Val Multiple submitters familial hemiplegic migraine ⚠
p.Gly20Asp Multiple submitters ⚠
p.Gly366Asp Multiple submitters familial hemiplegic migraine ⚠
p.Gly544Val Multiple submitters familial hemiplegic migraine ⚠
p.Gly560Ala Multiple submitters familial hemiplegic migraine ⚠
p.Gly565Asp Multiple submitters familial hemiplegic migraine ⚠
p.Gly629Ser Multiple submitters familial hemiplegic migraine ⚠
p.Gly664Ser Multiple submitters familial hemiplegic migraine ⚠
p.Gly861Val Multiple submitters familial hemiplegic migraine ⚠
p.Gly96Arg Multiple submitters familial hemiplegic migraine ⚠
p.His207Tyr Multiple submitters familial hemiplegic migraine ⚠
p.His388Arg Multiple submitters familial hemiplegic migraine ⚠
p.His491Asn Multiple submitters familial hemiplegic migraine ⚠
p.Ile1005Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile104Thr Multiple submitters familial hemiplegic migraine ⚠
p.Ile107Val Multiple submitters familial hemiplegic migraine ⚠
p.Ile240Asn Multiple submitters familial hemiplegic migraine ⚠
p.Ile255Thr Multiple submitters familial hemiplegic migraine ⚠
p.Ile268Arg Multiple submitters migraine, familial hemiplegic, 2 ⚠
p.Ile268Val Multiple submitters Inborn genetic diseases ⚠
p.Ile478Val Multiple submitters familial hemiplegic migraine ⚠
p.Ile631Val Multiple submitters familial hemiplegic migraine ⚠
p.Ile708Thr Multiple submitters familial hemiplegic migraine ⚠
p.Ile792Val Multiple submitters Inborn genetic diseases ⚠
p.Leu111Pro Multiple submitters familial hemiplegic migraine ⚠
p.Leu455Ile Multiple submitters familial hemiplegic migraine ⚠
p.Leu580Phe Multiple submitters familial hemiplegic migraine
p.Leu94Ile Multiple submitters familial hemiplegic migraine
p.Leu94Phe Multiple submitters familial hemiplegic migraine ⚠
p.Leu951Gln Multiple submitters familial hemiplegic migraine ⚠
p.Leu955Val Multiple submitters familial hemiplegic migraine ⚠
p.Leu993Phe Multiple submitters Inborn genetic diseases ⚠
p.Met156Ile Multiple submitters familial hemiplegic migraine ⚠
p.Met670Val Multiple submitters Inborn genetic diseases ⚠
p.Met892Thr Multiple submitters familial hemiplegic migraine ⚠
p.Phe243Tyr Multiple submitters familial hemiplegic migraine ⚠
p.Phe752Ile Multiple submitters alternating hemiplegia of childhood 1 ⚠
p.Phe964Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro123Gln Multiple submitters familial hemiplegic migraine ⚠
p.Pro198Thr Multiple submitters familial hemiplegic migraine ⚠
p.Pro497His Multiple submitters familial hemiplegic migraine ⚠
p.Pro526Leu Multiple submitters familial hemiplegic migraine ⚠
p.Pro796Leu Multiple submitters developmental and epileptic encephalopathy 98 ⚠
p.Pro990Leu Multiple submitters familial hemiplegic migraine ⚠
p.Ser10Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser145Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser206Tyr Multiple submitters familial hemiplegic migraine ⚠
p.Ser516Ala Multiple submitters familial hemiplegic migraine ⚠
p.Ser672Thr Multiple submitters alternating hemiplegia of childhood 1 ⚠
p.Thr224Asn Multiple submitters familial hemiplegic migraine ⚠
p.Thr415Met Multiple submitters ATP1A2-related disorder ⚠
p.Thr417Ala Multiple submitters familial hemiplegic migraine ⚠
p.Thr417Met Multiple submitters familial hemiplegic migraine ⚠
p.Thr445Ile Multiple submitters familial hemiplegic migraine ⚠
p.Thr577Lys Multiple submitters familial hemiplegic migraine
p.Thr620Arg Multiple submitters familial hemiplegic migraine ⚠
p.Thr671Ile Multiple submitters familial hemiplegic migraine
p.Thr838Met Multiple submitters familial hemiplegic migraine ⚠
p.Thr83Ile Multiple submitters Inborn genetic diseases
p.Thr904Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr917Met Multiple submitters familial hemiplegic migraine ⚠
p.Tyr53Cys Multiple submitters familial hemiplegic migraine ⚠
p.Val133Ala Multiple submitters Inborn genetic diseases ⚠
p.Val248Phe Multiple submitters familial hemiplegic migraine ⚠
p.Val298Leu Multiple submitters familial hemiplegic migraine ⚠
p.Val306Met Multiple submitters Inborn genetic diseases ⚠
p.Val37= Multiple submitters familial hemiplegic migraine
p.Val386Ile Multiple submitters familial hemiplegic migraine
p.Val440Leu Multiple submitters Inborn genetic diseases ⚠
p.Val440Met Multiple submitters familial hemiplegic migraine ⚠
p.Val503Leu Multiple submitters familial hemiplegic migraine
p.Val686Ile Multiple submitters familial hemiplegic migraine ⚠
p.Val69Phe Multiple submitters familial hemiplegic migraine ⚠
p.Val711Met Multiple submitters Inborn genetic diseases ⚠
p.Val756Ile Multiple submitters familial hemiplegic migraine ⚠
p.Val759Ala Multiple submitters familial hemiplegic migraine ⚠
p.Val924Met Multiple submitters familial hemiplegic migraine ⚠
p.Val925Ala Multiple submitters Inborn genetic diseases ⚠
c.1017+3G>A Single submitter familial hemiplegic migraine
c.118-12T>A Single submitter migraine, familial hemiplegic, 2
c.118-3C>T Single submitter
c.12+24_12+45dup Single submitter familial hemiplegic migraine
c.12+3G>A Single submitter familial hemiplegic migraine
c.12+6T>C Single submitter familial hemiplegic migraine
c.1216+3G>A Single submitter familial hemiplegic migraine
c.1326+6G>T Single submitter familial hemiplegic migraine
c.1461+18_1461+19delinsTA Single submitter familial hemiplegic migraine
c.1461+5G>T Single submitter familial hemiplegic migraine
c.1462-3C>T Single submitter familial hemiplegic migraine
c.1652-3T>C Single submitter familial hemiplegic migraine
c.1652-9C>A Single submitter familial hemiplegic migraine
c.1827+3A>G Single submitter familial hemiplegic migraine
c.1828-3T>C Single submitter familial hemiplegic migraine
c.2115+16G>T Single submitter
c.2115+1G>C Single submitter
c.2115+24_2115+49dup Single submitter familial hemiplegic migraine
c.2115+6C>G Single submitter familial hemiplegic migraine
c.2116-14_2116-13delinsAA Single submitter familial hemiplegic migraine
c.2285-3C>T Single submitter familial hemiplegic migraine
c.2439+3G>A Single submitter familial hemiplegic migraine
c.2439+3G>C Single submitter ATP1A2-related disorder
c.2439+6C>A Single submitter familial hemiplegic migraine
c.2556_2563+1dup Single submitter familial hemiplegic migraine
c.2563+4C>A Single submitter familial hemiplegic migraine
c.2563+5G>A Single submitter familial hemiplegic migraine
c.2563+6C>T Single submitter familial hemiplegic migraine
c.2564-16G>A Single submitter familial hemiplegic migraine
c.2564-3C>A Single submitter developmental and epileptic encephalopathy 98
c.2564-7C>T Single submitter
c.2564-96C>T Single submitter migraine, familial hemiplegic, 2
c.2709+3G>A Single submitter familial hemiplegic migraine
c.2709+5G>C Single submitter familial hemiplegic migraine
c.2709+6T>C Single submitter migraine, familial hemiplegic, 2
c.2840+3G>A Single submitter familial hemiplegic migraine
c.2942+4_2942+7del Single submitter Inborn genetic diseases
c.2942+5G>T Single submitter familial hemiplegic migraine
c.2942+7G>C Single submitter developmental and epileptic encephalopathy 98
c.2943-3C>G Single submitter familial hemiplegic migraine
c.381+3G>A Single submitter familial hemiplegic migraine
c.381+3G>T Single submitter familial hemiplegic migraine
c.381+5G>A Single submitter familial hemiplegic migraine
c.382-20A>G Single submitter familial hemiplegic migraine
c.382-9C>G Single submitter
c.495+17_495+28dup Single submitter familial hemiplegic migraine
c.495+1G>A Single submitter familial hemiplegic migraine
c.630+6G>A Single submitter familial hemiplegic migraine
c.631-10_631-4del Single submitter familial hemiplegic migraine
c.631-6C>T Single submitter migraine, familial hemiplegic, 2
c.748+3G>T Single submitter familial hemiplegic migraine
c.749-15C>G Single submitter familial hemiplegic migraine
c.-146G>A Single submitter migraine, familial hemiplegic, 2
c.-70G>A Single submitter alternating hemiplegia of childhood 1
c.*1007G>C Single submitter migraine, familial hemiplegic, 2
c.*1035A>G Single submitter migraine, familial hemiplegic, 2
c.*1207G>T Single submitter alternating hemiplegia of childhood 1
c.*120A>G Single submitter alternating hemiplegia of childhood 1
c.*1241del Single submitter
c.*1245A>C Single submitter alternating hemiplegia of childhood 1
c.*1284C>A Single submitter alternating hemiplegia of childhood 1
c.*1290T>C Single submitter alternating hemiplegia of childhood 1
c.*1356G>A Single submitter migraine, familial hemiplegic, 2
c.*143G>T Single submitter migraine, familial hemiplegic, 2
c.*1461C>T Single submitter migraine, familial hemiplegic, 2
c.*147C>T Single submitter alternating hemiplegia of childhood 1
c.*1712C>A Single submitter migraine, familial hemiplegic, 2
c.*1737C>T Single submitter migraine, familial hemiplegic, 2
c.*175C>T Single submitter alternating hemiplegia of childhood 1
c.*1815G>C Single submitter alternating hemiplegia of childhood 1
c.*1835C>T Single submitter alternating hemiplegia of childhood 1
c.*18C>T Single submitter alternating hemiplegia of childhood 1
c.*1953T>C Single submitter alternating hemiplegia of childhood 1
c.*2065G>A Single submitter alternating hemiplegia of childhood 1
c.*2070C>T Single submitter migraine, familial hemiplegic, 2
c.*2073A>G Single submitter alternating hemiplegia of childhood 1
c.*2147T>G Single submitter alternating hemiplegia of childhood 1
c.*2184A>G Single submitter migraine, familial hemiplegic, 2
c.*2223C>T Single submitter alternating hemiplegia of childhood 1
c.*25T>C Single submitter alternating hemiplegia of childhood 1
c.*286G>C Single submitter migraine, familial hemiplegic, 2
c.*383C>T Single submitter migraine, familial hemiplegic, 2
c.*488G>T Single submitter alternating hemiplegia of childhood 1
c.*511C>G Single submitter migraine, familial hemiplegic, 2
c.*535G>C Single submitter migraine, familial hemiplegic, 2
c.*648A>G Single submitter alternating hemiplegia of childhood 1
c.*73G>A Single submitter migraine, familial hemiplegic, 2
c.*850C>T Single submitter alternating hemiplegia of childhood 1
c.*870G>A Single submitter alternating hemiplegia of childhood 1
c.*910A>G Single submitter migraine, familial hemiplegic, 2
p.Ala112Asp Single submitter familial hemiplegic migraine ⚠
p.Ala117Thr Single submitter familial hemiplegic migraine ⚠
p.Ala12Thr Single submitter ⚠
p.Ala135Thr Single submitter Inborn genetic diseases ⚠
p.Ala136Val Single submitter familial hemiplegic migraine ⚠
p.Ala150= Single submitter
p.Ala167Asp Single submitter ⚠
p.Ala167Gly Single submitter ⚠
p.Ala16Thr Single submitter familial hemiplegic migraine ⚠
p.Ala199Asp Single submitter ⚠
p.Ala252Thr Single submitter alternating hemiplegia of childhood 1 ⚠
p.Ala252Val Single submitter familial hemiplegic migraine ⚠
p.Ala269Thr Single submitter ⚠
p.Ala283Glu Single submitter familial hemiplegic migraine ⚠
p.Ala283Thr Single submitter Inborn genetic diseases
p.Ala318Val Single submitter ⚠
p.Ala328Gly Single submitter Inborn genetic diseases ⚠
p.Ala328Thr Single submitter ⚠
p.Ala346Thr Single submitter familial hemiplegic migraine ⚠
p.Ala346Val Single submitter ⚠
p.Ala350Glu Single submitter Inborn genetic diseases ⚠
p.Ala387Thr Single submitter familial hemiplegic migraine ⚠
p.Ala38Ser Single submitter ⚠
p.Ala38Thr Single submitter familial hemiplegic migraine ⚠
p.Ala418Ser Single submitter familial hemiplegic migraine ⚠
p.Ala429Thr Single submitter familial hemiplegic migraine ⚠
p.Ala433Thr Single submitter familial hemiplegic migraine ⚠
p.Ala453Pro Single submitter familial hemiplegic migraine ⚠
p.Ala476Thr Single submitter familial hemiplegic migraine ⚠
p.Ala476Val Single submitter familial hemiplegic migraine ⚠
p.Ala507Ser Single submitter familial hemiplegic migraine ⚠
p.Ala595Val Single submitter familial hemiplegic migraine ⚠
p.Ala5Ser Single submitter familial hemiplegic migraine ⚠
p.Ala621Thr Single submitter familial hemiplegic migraine ⚠
p.Ala625Ser Single submitter familial hemiplegic migraine ⚠
p.Ala642Val Single submitter familial hemiplegic migraine ⚠
p.Ala659Ser Single submitter familial hemiplegic migraine ⚠
p.Ala710Thr Single submitter ⚠
p.Ala71Thr Single submitter familial hemiplegic migraine ⚠
p.Ala793Val Single submitter familial hemiplegic migraine ⚠
p.Ala871Glu Single submitter ⚠
p.Ala918Thr Single submitter familial hemiplegic migraine ⚠
p.Ala921Thr Single submitter ⚠
p.Ala974Asp Single submitter familial hemiplegic migraine ⚠
p.Arg1002Ter Single submitter
p.Arg171Gln Single submitter familial hemiplegic migraine ⚠
p.Arg196His Single submitter Inborn genetic diseases ⚠
p.Arg225Cys Single submitter familial hemiplegic migraine ⚠