ATP2B2 — 610 ClinVar variants
All ClinVar germline ATP2B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 277 flagged for review →
28 Pathogenic · 4 Pathogenic/Likely pathogenic · 20 Likely pathogenic · 8 Conflicting · 98 Benign · 6 Benign/Likely benign · 162 Likely benign · 284 Uncertain significance
Full ATP2B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 277
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ATP2B2 p.Ala72Thr Conflicting Single submitter
-
ATP2B2 p.Ala985Thr
Conflicting
Single submitter
hearing loss, autosomal dominant 82
-
ATP2B2 p.Asp225Asn
Conflicting
Single submitter
neurodevelopmental disorder
- ATP2B2 p.Ile539Val Conflicting Single submitter
-
ATP2B2 p.Ser922Leu
Conflicting
Single submitter
ATP2B2-related Progressive hearing impairment
Predictors lean, ClinVar uncertain 168
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 168
- ATP2B2 p.Ala206Asp Uncertain significance Multiple submitters
- ATP2B2 p.Ala560Thr Uncertain significance Multiple submitters
- ATP2B2 p.Arg1174Gln Uncertain significance Multiple submitters
- ATP2B2 p.Arg646His Uncertain significance Multiple submitters
- ATP2B2 p.Asn1110Ser Uncertain significance Multiple submitters
- ATP2B2 p.Asp369Glu Uncertain significance Multiple submitters
-
ATP2B2 p.Asp779Gly
Uncertain significance
Multiple submitters
hearing loss, autosomal dominant 82
- ATP2B2 p.Asp795Glu Uncertain significance Multiple submitters
- ATP2B2 p.Gly292Asp Uncertain significance Multiple submitters
- ATP2B2 p.Gly398Arg Uncertain significance Multiple submitters
-
ATP2B2 p.Gly834Asp
Uncertain significance
Multiple submitters
autosomal recessive nonsyndromic hearing loss 12
- ATP2B2 p.Leu1059Pro Uncertain significance Multiple submitters
- ATP2B2 p.Leu429Val Uncertain significance Multiple submitters
-
ATP2B2 p.Lys349Arg
Uncertain significance
Multiple submitters
hearing loss, autosomal dominant 82
- ATP2B2 p.Met609Thr Uncertain significance Multiple submitters
- ATP2B2 p.Pro683Leu Uncertain significance Multiple submitters
- ATP2B2 p.Ser1200Leu Uncertain significance Multiple submitters
- ATP2B2 p.Thr40Ser Uncertain significance Multiple submitters
- ATP2B2 p.Thr569Met Uncertain significance Multiple submitters
- ATP2B2 p.Val1076Ile Uncertain significance Multiple submitters
- ATP2B2 p.Val1113Met Uncertain significance Multiple submitters
- ATP2B2 p.Val702Met Uncertain significance Multiple submitters
- ATP2B2 p.Ala1195Val Uncertain significance Single submitter
- ATP2B2 p.Ala197Asp Uncertain significance Single submitter
- ATP2B2 p.Ala206Pro Uncertain significance Single submitter
- ATP2B2 p.Ala348Val Uncertain significance Single submitter
- ATP2B2 p.Ala370Thr Uncertain significance Single submitter
- ATP2B2 p.Ala454Thr Uncertain significance Single submitter
- ATP2B2 p.Ala543Ser Uncertain significance Single submitter
- ATP2B2 p.Ala642Glu Uncertain significance Single submitter
- ATP2B2 p.Ala665Asp Uncertain significance Single submitter
- ATP2B2 p.Ala848Asp Uncertain significance Single submitter
- ATP2B2 p.Ala897Thr Uncertain significance Single submitter
- ATP2B2 p.Arg1014Cys Uncertain significance Single submitter
- ATP2B2 p.Arg1020Cys Uncertain significance Single submitter
- ATP2B2 p.Arg1020Leu Uncertain significance Single submitter
- ATP2B2 p.Arg1121Trp Uncertain significance Single submitter
- ATP2B2 p.Arg1136Gln Uncertain significance Single submitter
- ATP2B2 p.Arg1142His Uncertain significance Single submitter
-
ATP2B2 p.Arg180Pro
Uncertain significance
Single submitter
neurodevelopmental disorder
- ATP2B2 p.Arg180Trp Uncertain significance Single submitter
- ATP2B2 p.Arg196Gln Uncertain significance Single submitter
- ATP2B2 p.Arg508Leu Uncertain significance Single submitter
- ATP2B2 p.Arg59Leu Uncertain significance Single submitter
- ATP2B2 p.Arg621Leu Uncertain significance Single submitter
- ATP2B2 p.Arg646Cys Uncertain significance Single submitter
- ATP2B2 p.Arg649Trp Uncertain significance Single submitter
- ATP2B2 p.Arg651Cys Uncertain significance Single submitter
- ATP2B2 p.Arg670Cys Uncertain significance Single submitter
- ATP2B2 p.Arg710Gln Uncertain significance Single submitter
- ATP2B2 p.Arg710Trp Uncertain significance Single submitter
- ATP2B2 p.Arg728Cys Uncertain significance Single submitter
- ATP2B2 p.Arg739Pro Uncertain significance Single submitter
- ATP2B2 p.Arg790Cys Uncertain significance Single submitter
- ATP2B2 p.Arg790His Uncertain significance Single submitter
- ATP2B2 p.Arg869His Uncertain significance Single submitter
- ATP2B2 p.Arg942Cys Uncertain significance Single submitter
- ATP2B2 p.Arg942His Uncertain significance Single submitter
- ATP2B2 p.Asn13Thr Uncertain significance Single submitter
- ATP2B2 p.Asn886Lys Uncertain significance Single submitter
- ATP2B2 p.Asp246Glu Uncertain significance Single submitter
- ATP2B2 p.Asp352His Uncertain significance Single submitter
- ATP2B2 p.Asp3Asn Uncertain significance Single submitter
- ATP2B2 p.Asp652Asn Uncertain significance Single submitter
- ATP2B2 p.Asp824Glu Uncertain significance Single submitter
- ATP2B2 p.Cys163Tyr Uncertain significance Single submitter
- ATP2B2 p.Cys487Tyr Uncertain significance Single submitter
- ATP2B2 p.Cys57Tyr Uncertain significance Single submitter
- ATP2B2 p.Cys666Tyr Uncertain significance Single submitter
- ATP2B2 p.Gln1006Arg Uncertain significance Single submitter
- ATP2B2 p.Gln1060His Uncertain significance Single submitter
- ATP2B2 p.Gln337Pro Uncertain significance Single submitter
- ATP2B2 p.Gln345His Uncertain significance Single submitter
- ATP2B2 p.Gln84Glu Uncertain significance Single submitter
- ATP2B2 p.Glu101Asp Uncertain significance Single submitter
- ATP2B2 p.Glu1176Gln Uncertain significance Single submitter
- ATP2B2 p.Glu176Val Uncertain significance Single submitter
- ATP2B2 p.Glu207Asp Uncertain significance Single submitter
- ATP2B2 p.Glu266Lys Uncertain significance Single submitter
- ATP2B2 p.Glu295Asp Uncertain significance Single submitter
- ATP2B2 p.Glu585Lys Uncertain significance Single submitter
- ATP2B2 p.Glu618Lys Uncertain significance Single submitter
- ATP2B2 p.Glu706Lys Uncertain significance Single submitter
- ATP2B2 p.Glu758Lys Uncertain significance Single submitter
- ATP2B2 p.Gly1038Asp Uncertain significance Single submitter
- ATP2B2 p.Gly1071Glu Uncertain significance Single submitter
- ATP2B2 p.Gly1133Val Uncertain significance Single submitter
- ATP2B2 p.Gly226Asp Uncertain significance Single submitter
- ATP2B2 p.Gly269Ala Uncertain significance Single submitter
- ATP2B2 p.Gly277Val Uncertain significance Single submitter
- ATP2B2 p.Gly2Asp Uncertain significance Single submitter
- ATP2B2 p.Gly353Arg Uncertain significance Single submitter
- ATP2B2 p.Gly517Ser Uncertain significance Single submitter
- ATP2B2 p.Gly704Val Uncertain significance Single submitter
- ATP2B2 p.Gly825Glu Uncertain significance Single submitter
- ATP2B2 p.Gly941Ser Uncertain significance Single submitter
- ATP2B2 p.His1017Tyr Uncertain significance Single submitter
- ATP2B2 p.His263Leu Uncertain significance Single submitter
- ATP2B2 p.Ile1046Thr Uncertain significance Single submitter
- ATP2B2 p.Ile1175Met Uncertain significance Single submitter
- ATP2B2 p.Ile208Phe Uncertain significance Single submitter
- ATP2B2 p.Ile236Asn Uncertain significance Single submitter
- ATP2B2 p.Ile236Thr Uncertain significance Single submitter
- ATP2B2 p.Ile46Val Uncertain significance Single submitter
- ATP2B2 p.Ile530Val Uncertain significance Single submitter
- ATP2B2 p.Ile544Thr Uncertain significance Single submitter
- ATP2B2 p.Ile705Phe Uncertain significance Single submitter
- ATP2B2 p.Ile725Asn Uncertain significance Single submitter
- ATP2B2 p.Ile781Phe Uncertain significance Single submitter
- ATP2B2 p.Ile839Asn Uncertain significance Single submitter
- ATP2B2 p.Ile851Phe Uncertain significance Single submitter
- ATP2B2 p.Ile852Met Uncertain significance Single submitter
- ATP2B2 p.Ile966Phe Uncertain significance Single submitter
- ATP2B2 p.Leu108Val Uncertain significance Single submitter
- ATP2B2 p.Leu31Phe Uncertain significance Single submitter
- ATP2B2 p.Leu538Gln Uncertain significance Single submitter
- ATP2B2 p.Lys61Arg Uncertain significance Single submitter
- ATP2B2 p.Lys634Met Uncertain significance Single submitter
- ATP2B2 p.Met357Val Uncertain significance Single submitter
- ATP2B2 p.Met4Ile Uncertain significance Single submitter
-
ATP2B2 p.Met4Val
Uncertain significance
Single submitter
hearing loss disorder
- ATP2B2 p.Met509Leu Uncertain significance Single submitter
- ATP2B2 p.Met622Val Uncertain significance Single submitter
- ATP2B2 p.Phe444Ser Uncertain significance Single submitter
- ATP2B2 p.Pro1158Ala Uncertain significance Single submitter
- ATP2B2 p.Pro1202Leu Uncertain significance Single submitter
- ATP2B2 p.Pro1203Leu Uncertain significance Single submitter
- ATP2B2 p.Pro126Ser Uncertain significance Single submitter
- ATP2B2 p.Pro904Arg Uncertain significance Single submitter
- ATP2B2 p.Pro939Leu Uncertain significance Single submitter
- ATP2B2 p.Pro945Leu Uncertain significance Single submitter
-
ATP2B2 p.Ser1163Pro
Uncertain significance
Single submitter
hearing loss, autosomal dominant 82
- ATP2B2 p.Ser1242Leu Uncertain significance Single submitter
- ATP2B2 p.Ser18Leu Uncertain significance Single submitter
- ATP2B2 p.Ser466Trp Uncertain significance Single submitter
- ATP2B2 p.Ser470Leu Uncertain significance Single submitter
-
ATP2B2 p.Ser610Thr
Uncertain significance
Single submitter
hearing loss, autosomal dominant 82
- ATP2B2 p.Ser619Asn Uncertain significance Single submitter
- ATP2B2 p.Ser849Pro Uncertain significance Single submitter
- ATP2B2 p.Thr1188Ser Uncertain significance Single submitter
- ATP2B2 p.Thr1241Met Uncertain significance Single submitter
- ATP2B2 p.Thr168Met Uncertain significance Single submitter
- ATP2B2 p.Thr417Ser Uncertain significance Single submitter
- ATP2B2 p.Thr532Ser Uncertain significance Single submitter
- ATP2B2 p.Thr53Ile Uncertain significance Single submitter
- ATP2B2 p.Thr601Asn Uncertain significance Single submitter
- ATP2B2 p.Thr737Met Uncertain significance Single submitter
- ATP2B2 p.Thr895Lys Uncertain significance Single submitter
- ATP2B2 p.Thr933Ser Uncertain significance Single submitter
- ATP2B2 p.Thr94Ser Uncertain significance Single submitter
Predictors split 104
The independent predictors disagree with each other — read with care.
- ATP2B2 p.Ala135Val Uncertain significance Multiple submitters
- ATP2B2 p.Arg249His Uncertain significance Multiple submitters
- ATP2B2 p.Arg718Cys Uncertain significance Multiple submitters
- ATP2B2 p.Asp526His Uncertain significance Multiple submitters
- ATP2B2 p.Glu132Lys Uncertain significance Multiple submitters
- ATP2B2 p.Lys938Arg Uncertain significance Multiple submitters
- ATP2B2 p.Met535Val Uncertain significance Multiple submitters
- ATP2B2 p.Pro929Leu Uncertain significance Multiple submitters
- ATP2B2 p.Ser528Asn Uncertain significance Multiple submitters
- ATP2B2 p.Thr433Met Uncertain significance Multiple submitters
- ATP2B2 p.Thr794Met Uncertain significance Multiple submitters
- ATP2B2 p.Tyr50Phe Uncertain significance Multiple submitters
- ATP2B2 p.Val519Ile Likely benign Multiple submitters
- ATP2B2 p.Val587Met Uncertain significance Multiple submitters
-
ATP2B2 p.Val631Met
Benign
Multiple submitters
agenesis of the corpus callosum with peripheral neuropathy
- ATP2B2 p.Val887Met Uncertain significance Multiple submitters
- ATP2B2 p.Ala1212Thr Uncertain significance Single submitter
- ATP2B2 p.Ala141Thr Uncertain significance Single submitter
- ATP2B2 p.Ala543Thr Conflicting Single submitter
-
ATP2B2 p.Arg1020His
Uncertain significance
Single submitter
hearing loss, autosomal dominant 82
- ATP2B2 p.Arg1028Gln Uncertain significance Single submitter
- ATP2B2 p.Arg1121Gly Uncertain significance Single submitter
- ATP2B2 p.Arg1121Pro Uncertain significance Single submitter
- ATP2B2 p.Arg1124Gln Uncertain significance Single submitter
- ATP2B2 p.Arg1174Trp Uncertain significance Single submitter
- ATP2B2 p.Arg32Cys Uncertain significance Single submitter
- ATP2B2 p.Arg32His Uncertain significance Single submitter
- ATP2B2 p.Arg563Trp Uncertain significance Single submitter
- ATP2B2 p.Arg59His Uncertain significance Single submitter
- ATP2B2 p.Arg651His Likely benign Single submitter
- ATP2B2 p.Arg722Gln Likely benign Single submitter
- ATP2B2 p.Arg722Trp Uncertain significance Single submitter
- ATP2B2 p.Arg767His Uncertain significance Single submitter
- ATP2B2 p.Arg777Gln Uncertain significance Single submitter
- ATP2B2 p.Asn6Lys Uncertain significance Single submitter
- ATP2B2 p.Asp372Asn Uncertain significance Single submitter
- ATP2B2 p.Asp518Asn Likely benign Single submitter
- ATP2B2 p.Asp526Asn Uncertain significance Single submitter
- ATP2B2 p.Asp583Gly Uncertain significance Single submitter
- ATP2B2 p.Asp678Asn Uncertain significance Single submitter
- ATP2B2 p.Gln1140Lys Uncertain significance Single submitter
- ATP2B2 p.Gln202His Uncertain significance Single submitter
- ATP2B2 p.Glu1108Gly Uncertain significance Single submitter
- ATP2B2 p.Glu1111Lys Uncertain significance Single submitter
- ATP2B2 p.Glu23Lys Uncertain significance Single submitter
- ATP2B2 p.Glu41Ala Uncertain significance Single submitter
- ATP2B2 p.Glu54Lys Uncertain significance Single submitter
- ATP2B2 p.Gly1025Ser Uncertain significance Single submitter
- ATP2B2 p.Gly1126Ser Uncertain significance Single submitter
- ATP2B2 p.Gly1133Ser Uncertain significance Single submitter
- ATP2B2 p.Gly128Ser Uncertain significance Single submitter
- ATP2B2 p.Gly21Trp Uncertain significance Single submitter
- ATP2B2 p.Gly25Arg Uncertain significance Single submitter
- ATP2B2 p.Gly293Ser Likely benign Single submitter
-
ATP2B2 p.Gly307Arg
Uncertain significance
Single submitter
hearing loss, autosomal dominant 82
- ATP2B2 p.Gly641Arg Uncertain significance Single submitter
- ATP2B2 p.Gly70Val Uncertain significance Single submitter
- ATP2B2 p.His125Gln Uncertain significance Single submitter
- ATP2B2 p.His749Pro Uncertain significance Single submitter
- ATP2B2 p.Ile1016Val Uncertain significance Single submitter
- ATP2B2 p.Ile162Phe Uncertain significance Single submitter
- ATP2B2 p.Ile162Thr Uncertain significance Single submitter
- ATP2B2 p.Ile213Met Uncertain significance Single submitter
- ATP2B2 p.Ile46Met Uncertain significance Single submitter
- ATP2B2 p.Ile524Met Uncertain significance Single submitter
- ATP2B2 p.Ile693Thr Uncertain significance Single submitter
- ATP2B2 p.Ile891Met Uncertain significance Single submitter
- ATP2B2 p.Leu1061Pro Uncertain significance Single submitter
- ATP2B2 p.Leu166Met Uncertain significance Single submitter
- ATP2B2 p.Leu234Val Uncertain significance Single submitter
- ATP2B2 p.Leu936Val Uncertain significance Single submitter
- ATP2B2 p.Lys476Arg Conflicting Single submitter
- ATP2B2 p.Lys634Arg Uncertain significance Single submitter
- ATP2B2 p.Met535Thr Uncertain significance Single submitter
- ATP2B2 p.Met622Ile Uncertain significance Single submitter
- ATP2B2 p.Pro1030Arg Uncertain significance Single submitter
- ATP2B2 p.Pro1053Ser Uncertain significance Single submitter
- ATP2B2 p.Pro204Ala Uncertain significance Single submitter
- ATP2B2 p.Pro256Ala Uncertain significance Single submitter
- ATP2B2 p.Pro69Leu Benign Single submitter
- ATP2B2 p.Pro750Leu Uncertain significance Single submitter
- ATP2B2 p.Pro92Ala Uncertain significance Single submitter
- ATP2B2 p.Pro92Thr Uncertain significance Single submitter
- ATP2B2 p.Ser11Tyr Uncertain significance Single submitter
-
ATP2B2 p.Ser377Arg
Uncertain significance
Single submitter
hearing loss, autosomal dominant 82
- ATP2B2 p.Ser528Thr Uncertain significance Single submitter
- ATP2B2 p.Thr136Met Uncertain significance Single submitter
- ATP2B2 p.Thr27Ala Uncertain significance Single submitter
- ATP2B2 p.Thr27Lys Uncertain significance Single submitter
- ATP2B2 p.Thr53Pro Uncertain significance Single submitter
- ATP2B2 p.Thr5Ile Uncertain significance Single submitter
- ATP2B2 p.Thr698Ile Uncertain significance Single submitter
- ATP2B2 p.Thr809Ile Uncertain significance Single submitter
- ATP2B2 p.Thr931Met Uncertain significance Single submitter
- ATP2B2 p.Val1036Met Uncertain significance Single submitter
- ATP2B2 p.Val1144Leu Uncertain significance Single submitter
-
ATP2B2 p.Val1144Met
Likely pathogenic
Single submitter
hearing loss, autosomal dominant 82
- ATP2B2 p.Val437Met Uncertain significance Single submitter
- ATP2B2 p.Val511Ala Uncertain significance Single submitter
- ATP2B2 p.Val577Met Uncertain significance Single submitter
- ATP2B2 p.Val605Met Conflicting Single submitter
- ATP2B2 p.Val674Met Uncertain significance Single submitter
- ATP2B2 p.Val862Ile Uncertain significance Single submitter
- ATP2B2 p.Val871Ile Likely benign Single submitter
All ATP2B2 variants
Pathogenic 28
- p.Gly821Arg Multiple submitters
- c.1043-2A>G Single submitter hearing loss, autosomal dominant 82
- p.Ala642fs Single submitter
- p.Ala831Val Single submitter
- p.Arg1020fs Single submitter
- p.Arg482fs Single submitter hearing loss, autosomal dominant 82
- p.Arg588fs Single submitter
- p.Arg718fs Single submitter
- p.Cys571Ter Single submitter
- p.Gln178Ter Single submitter
- p.Glu974Ter Single submitter
- p.Gly120Arg Single submitter intellectual disability
- p.Gly502fs Single submitter
- p.Gly957fs Single submitter
- p.Ile839fs Single submitter
- p.Leu60fs Single submitter
- p.Lys299fs Single submitter
- p.Lys375Ter Single submitter
- p.Lys91fs Single submitter
- p.Met664fs Single submitter
- p.Met910fs Single submitter
- p.Phe754fs Single submitter
- p.Ser1087fs Single submitter Epileptic encephalopathy
- p.Ala319fs No assertion criteria hearing loss, autosomal dominant 82
- p.Arg777Ter No assertion criteria hearing loss, autosomal dominant 82
- p.Cys666Ter No assertion criteria hearing loss, autosomal dominant 82
- p.Gln345Ter No assertion criteria autosomal dominant nonsyndromic hearing loss
- p.Glu655Ter No assertion criteria hearing loss, autosomal dominant 82
Pathogenic/Likely pathogenic 4
- c.2136+1G>A Multiple submitters
- p.Arg1132Ter Multiple submitters Epileptic encephalopathy
- p.Phe444del Multiple submitters
- p.Thr503Met Multiple submitters neurodevelopmental disorder
Likely pathogenic 20
- p.Glu457Lys Multiple submitters ATP2B2-related disorder
- c.1660-1G>A Single submitter
- c.2316+1G>T Single submitter
- c.2316+2T>C Single submitter
- c.2405-2A>G Single submitter
- c.3130-2A>C Single submitter
- c.3420+1G>A Single submitter
- c.397+2T>C Single submitter
- c.782-2A>G Single submitter
- p.Arg1161Ter Single submitter
- p.Asp316fs Single submitter hearing loss, autosomal dominant 82
- p.Asp707Glu Single submitter
- p.Gln1006Ter Single submitter hearing loss, autosomal dominant 82
- p.Glu684fs Single submitter
- p.Gly447Asp Single submitter ATP2B2-related disorder
- p.Gly732Ser Single submitter hearing loss, autosomal dominant 82
- p.Ile186fs Single submitter
- p.Leu121fs Single submitter hearing loss, autosomal dominant 82
- p.Phe123fs Single submitter hearing loss, autosomal dominant 82
- p.Val1144Met Single submitter hearing loss, autosomal dominant 82 ⚠
Conflicting classifications of pathogenicity 8
- p.Ala543Thr Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Ala985Thr Single submitter hearing loss, autosomal dominant 82 ⚠
- p.Asp225Asn Single submitter neurodevelopmental disorder ⚠
- p.Ile539Val Single submitter ⚠
- p.Lys476Arg Single submitter ⚠
- p.Ser922Leu Single submitter ATP2B2-related Progressive hearing impairment ⚠
- p.Val605Met Single submitter ⚠
Benign 98
- c.1001-139T>C Multiple submitters
- c.1042+52C>T Multiple submitters
- c.1043-19C>T Multiple submitters
- c.1201+80G>C Multiple submitters
- c.1417-186C>A Multiple submitters
- c.1660-146A>G Multiple submitters
- c.1660-49C>A Multiple submitters
- c.1902-34C>T Multiple submitters
- c.199+52G>A Multiple submitters
- c.2136+109T>C Multiple submitters
- c.2136+111A>G Multiple submitters
- c.2136+122G>A Multiple submitters
- c.2511+172A>G Multiple submitters
- c.2703+8C>T Multiple submitters
- c.2703+9G>T Multiple submitters
- c.2917+11C>T Multiple submitters
- c.3129+29C>T Multiple submitters
- c.3129+66A>G Multiple submitters
- c.3238-167A>G Multiple submitters
- c.3421-2698T>C Multiple submitters
- c.397+32C>T Multiple submitters
- c.397+71C>T Multiple submitters
- c.656-145C>T Multiple submitters
- c.656-17G>A Multiple submitters
- c.781+98T>C Multiple submitters
- c.907+53T>A Multiple submitters
- c.908-143G>A Multiple submitters
- c.908-67C>T Multiple submitters
- c.941-179G>A Multiple submitters
- c.941-223T>C Multiple submitters
- c.941-6C>G Multiple submitters
- c.941-80A>G Multiple submitters
- c.-3A>G Multiple submitters
- c.*12C>G Multiple submitters
- p.Ala1119= Multiple submitters
- p.Asn479= Multiple submitters
- p.Gln1006= Multiple submitters
- p.Gln350= Multiple submitters
- p.Gly517= Multiple submitters
- p.His1118= Multiple submitters
- p.Ile542= Multiple submitters
- p.Leu111= Multiple submitters
- p.Lys1090= Multiple submitters
- p.Lys175= Multiple submitters
- p.Ser989= Multiple submitters
- p.Val201= Multiple submitters
- p.Val631Met Multiple submitters agenesis of the corpus callosum with peripheral neuropathy ⚠
- c.1001-272G>A Single submitter
- c.1042+157T>A Single submitter
- c.1043-207C>T Single submitter
- c.1043-244A>C Single submitter
- c.1202-18G>A Single submitter
- c.1416+17G>C Single submitter
- c.1659+102G>A Single submitter
- c.1659+152G>C Single submitter
- c.1659+296G>A Single submitter
- c.1660-296C>T Single submitter
- c.1902-318C>A Single submitter
- c.200-127T>A Single submitter
- c.2136+144A>G Single submitter
- c.2136+230T>C Single submitter
- c.2316+13A>G Single submitter
- c.2404+20G>A Single submitter
- c.2512-17del Single submitter
- c.2703+271G>A Single submitter
- c.2918-149A>C Single submitter
- c.2918-250T>C Single submitter
- c.3237+142T>C Single submitter
- c.3238-275_3238-274del Single submitter
- c.3420+2210G>A Single submitter
- c.3420+237T>C Single submitter
- c.3420+257A>G Single submitter
- c.397+150G>A Single submitter
- c.656-10C>G Single submitter
- c.656-150A>T Single submitter
- c.656-238G>A Single submitter
- c.656-328T>G Single submitter
- c.781+198C>T Single submitter
- c.907+49dup Single submitter
- c.908-284T>C Single submitter
- c.941-116dup Single submitter
- p.Ala318= Single submitter
- p.Ala454= Single submitter
- p.Arg1132= Single submitter
- p.Asn823= Single submitter
- p.Asn886= Single submitter
- p.Asp617= Single submitter
- p.Asp820= Single submitter
- p.Asp843= Single submitter
- p.Ile208= Single submitter
- p.Ile705= Single submitter
- p.Ile766= Single submitter
- p.Ile979= Single submitter
- p.Leu98= Single submitter
- p.Pro1105= Single submitter
- p.Pro69Leu Single submitter ⚠
- p.Ser981= Single submitter
- p.Tyr940= Single submitter
Benign/Likely benign 6
- p.Arg670= Multiple submitters
- p.Asn1110= Multiple submitters
- p.Asp1112= Multiple submitters
- p.Leu451= Multiple submitters
- p.Thr569= Multiple submitters
- p.Thr818= Multiple submitters
Likely benign 162
- c.1901+7G>A Multiple submitters
- p.Ala102= Multiple submitters
- p.Ala1146= Multiple submitters
- p.Ala985= Multiple submitters
- p.Asn1009= Multiple submitters
- p.Asn1218= Multiple submitters
- p.Asn640Ser Multiple submitters
- p.Asp369= Multiple submitters
- p.Asp617Asn Multiple submitters
- p.Glu570= Multiple submitters
- p.Gly51= Multiple submitters
- p.Ile630= Multiple submitters
- p.Pro945= Multiple submitters
- p.Thr1241= Multiple submitters
- p.Thr449= Multiple submitters
- p.Val385= Multiple submitters
- p.Val519Ile Multiple submitters ⚠
- c.1043-11G>T Single submitter
- c.1043-6C>G Single submitter
- c.1416+17G>A Single submitter
- c.1416+18C>T Single submitter
- c.1417-4C>T Single submitter
- c.1659+17C>G Single submitter
- c.1659+20A>G Single submitter
- c.1660-8C>G Single submitter
- c.1902-4C>A Single submitter
- c.199+10C>T Single submitter
- c.2136+5G>T Single submitter
- c.2316+14C>A Single submitter
- c.2316+15G>A Single submitter
- c.2317-10C>T Single submitter
- c.2404+13C>T Single submitter
- c.2404+19C>T Single submitter
- c.2405-12C>T Single submitter
- c.2405-20G>A Single submitter
- c.2511+9G>A Single submitter
- c.2703+8_2703+10dup Single submitter
- c.2704-6C>A Single submitter
- c.2704-9C>T Single submitter
- c.2917+10T>C Single submitter
- c.2917+7G>A Single submitter
- c.2918-12C>T Single submitter
- c.3129+8G>C Single submitter
- c.3130-14C>T Single submitter
- c.3238-14A>C Single submitter
- c.3238-9C>G Single submitter
- c.3420+13C>G Single submitter
- c.3420+2002A>T Single submitter
- c.397+10G>T Single submitter
- c.397+8G>A Single submitter
- c.398-18T>C Single submitter
- c.655+17C>T Single submitter
- c.656-17del Single submitter
- c.907+18G>A Single submitter
- c.941-106del Single submitter
- c.941-1G>A Single submitter autosomal recessive nonsyndromic hearing loss 12
- p.Ala1194= Single submitter
- p.Ala1195= Single submitter
- p.Ala1195Thr Single submitter
- p.Ala135= Single submitter
- p.Ala156= Single submitter
- p.Ala348= Single submitter
- p.Ala365= Single submitter
- p.Ala400= Single submitter
- p.Ala55= Single submitter
- p.Ala642= Single submitter
- p.Ala831= Single submitter
- p.Ala889= Single submitter
- p.Ala907= Single submitter
- p.Arg1121= Single submitter
- p.Arg196= Single submitter
- p.Arg270= Single submitter
- p.Arg373= Single submitter
- p.Arg651= Single submitter
- p.Arg651His Single submitter ⚠
- p.Arg722Gln Single submitter ⚠
- p.Asn1012= Single submitter
- p.Asn131= Single submitter
- p.Asn736= Single submitter
- p.Asn870= Single submitter
- p.Asn954= Single submitter
- p.Asp352= Single submitter
- p.Asp477= Single submitter
- p.Asp518Asn Single submitter ⚠
- p.Asp832= Single submitter
- p.Asp855= Single submitter
- p.Cys571= Single submitter
- p.Gln281= Single submitter
- p.Gln360= Single submitter
- p.Glu1074= Single submitter
- p.Glu30= Single submitter
- p.Glu593= Single submitter
- p.Gly128= Single submitter
- p.Gly181= Single submitter
- p.Gly290= Single submitter
- p.Gly293Ser Single submitter ⚠
- p.Gly368= Single submitter
- p.Gly447= Single submitter
- p.Gly70= Single submitter
- p.Gly732= Single submitter
- p.Gly868= Single submitter
- p.Gly896= Single submitter
- p.His1017= Single submitter
- p.His263= Single submitter
- p.His520= Single submitter
- p.Ile117= Single submitter
- p.Ile1236= Single submitter
- p.Ile186= Single submitter
- p.Ile285= Single submitter
- p.Ile397= Single submitter
- p.Leu1206= Single submitter
- p.Leu159= Single submitter
- p.Leu31= Single submitter
- p.Leu578= Single submitter
- p.Leu669= Single submitter
- p.Leu757= Single submitter
- p.Leu799= Single submitter
- p.Lys595= Single submitter
- p.Lys744= Single submitter
- p.Lys780= Single submitter
- p.Lys975Arg Single submitter
- p.Phe835= Single submitter
- p.Pro1202= Single submitter
- p.Pro1203= Single submitter
- p.Pro127= Single submitter
- p.Pro427= Single submitter
- p.Pro456= Single submitter
- p.Pro554= Single submitter
- p.Pro586= Single submitter
- p.Pro680= Single submitter
- p.Pro683= Single submitter
- p.Pro69= Single submitter
- p.Pro929= Single submitter
- p.Pro939= Single submitter
- p.Ser1230= Single submitter
- p.Ser1242= Single submitter
- p.Ser470= Single submitter
- p.Ser546= Single submitter
- p.Ser604= Single submitter
- p.Ser859= Single submitter
- p.Thr1220= Single submitter
- p.Thr168= Single submitter
- p.Thr193= Single submitter
- p.Thr503= Single submitter
- p.Thr506= Single submitter
- p.Thr71= Single submitter
- p.Thr794= Single submitter
- p.Thr931= Single submitter
- p.Thr933= Single submitter
- p.Tyr218= Single submitter
- p.Tyr584= Single submitter
- p.Val1076= Single submitter
- p.Val210= Single submitter
- p.Val216Ile Single submitter
- p.Val435= Single submitter
- p.Val65= Single submitter
- p.Val730= Single submitter
- p.Val871Ile Single submitter ⚠
- c.*2T>C No assertion criteria ATP2B2-related disorder
- p.Asp824= No assertion criteria ATP2B2-related disorder
- p.Ile1213= No assertion criteria ATP2B2-related disorder
- p.Pro1085= No assertion criteria ATP2B2-related disorder
Uncertain significance 284
- c.3420+1998G>T Multiple submitters
- p.Ala135Val Multiple submitters ⚠
- p.Ala206Asp Multiple submitters ⚠
- p.Ala560Thr Multiple submitters ⚠
- p.Arg1028_Phe1032del Multiple submitters
- p.Arg1174Gln Multiple submitters ⚠
- p.Arg249His Multiple submitters ⚠
- p.Arg646His Multiple submitters ⚠
- p.Arg718Cys Multiple submitters ⚠
- p.Asn1110Ser Multiple submitters ⚠
- p.Asp369Glu Multiple submitters ⚠
- p.Asp526His Multiple submitters ⚠
- p.Asp779Gly Multiple submitters hearing loss, autosomal dominant 82 ⚠
- p.Asp795Glu Multiple submitters ⚠
- p.Glu132Lys Multiple submitters ⚠
- p.Gly292Asp Multiple submitters ⚠
- p.Gly398Arg Multiple submitters ⚠
- p.Gly834Asp Multiple submitters autosomal recessive nonsyndromic hearing loss 12 ⚠
- p.Leu1059Pro Multiple submitters ⚠
- p.Leu429Val Multiple submitters ⚠
- p.Lys349Arg Multiple submitters hearing loss, autosomal dominant 82 ⚠
- p.Lys938Arg Multiple submitters ⚠
- p.Met535Val Multiple submitters ⚠
- p.Met609Thr Multiple submitters ⚠
- p.Pro683Leu Multiple submitters ⚠
- p.Pro929Leu Multiple submitters ⚠
- p.Ser1200Leu Multiple submitters ⚠
- p.Ser528Asn Multiple submitters ⚠
- p.Thr40Ser Multiple submitters ⚠
- p.Thr433Met Multiple submitters ⚠
- p.Thr569Met Multiple submitters ⚠
- p.Thr794Met Multiple submitters ⚠
- p.Tyr50Phe Multiple submitters ⚠
- p.Val1076Ile Multiple submitters ⚠
- p.Val1113Met Multiple submitters ⚠
- p.Val587Met Multiple submitters ⚠
- p.Val702Met Multiple submitters ⚠
- p.Val887Met Multiple submitters ⚠
- c.199+4A>G Single submitter
- c.2136+3A>G Single submitter
- c.2316+5G>A Single submitter
- c.2405-3C>T Single submitter
- c.2511+6A>G Single submitter
- c.2917+3G>A Single submitter
- c.2917+3G>C Single submitter
- c.2917+6C>T Single submitter
- c.3420+1997T>C Single submitter
- c.3420+2045G>C Single submitter
- c.656-3C>T Single submitter
- c.781+8T>G Single submitter
- p.Ala1119Thr Single submitter
- p.Ala1195Val Single submitter ⚠
- p.Ala1212Thr Single submitter ⚠
- p.Ala141Thr Single submitter ⚠
- p.Ala169_Phe170insAla Single submitter
- p.Ala197Asp Single submitter ⚠
- p.Ala206Pro Single submitter ⚠
- p.Ala348Val Single submitter ⚠
- p.Ala370Thr Single submitter ⚠
- p.Ala454Thr Single submitter ⚠
- p.Ala543Ser Single submitter ⚠
- p.Ala642Glu Single submitter ⚠
- p.Ala665Asp Single submitter ⚠
- p.Ala848Asp Single submitter ⚠
- p.Ala897Thr Single submitter ⚠
- p.Arg1014Cys Single submitter ⚠
- p.Arg1020Cys Single submitter ⚠
- p.Arg1020His Single submitter hearing loss, autosomal dominant 82 ⚠
- p.Arg1020Leu Single submitter ⚠
- p.Arg1028Gln Single submitter ⚠
- p.Arg1121Gly Single submitter ⚠
- p.Arg1121Pro Single submitter ⚠
- p.Arg1121Trp Single submitter ⚠
- p.Arg1124Gln Single submitter ⚠
- p.Arg1136Gln Single submitter ⚠
- p.Arg1142His Single submitter ⚠
- p.Arg1174Trp Single submitter ⚠
- p.Arg180Pro Single submitter neurodevelopmental disorder ⚠
- p.Arg180Trp Single submitter ⚠
- p.Arg196Gln Single submitter ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg32His Single submitter ⚠
- p.Arg508Leu Single submitter ⚠
- p.Arg563Trp Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Arg59Leu Single submitter ⚠
- p.Arg621Leu Single submitter ⚠
- p.Arg646Cys Single submitter ⚠
- p.Arg649Trp Single submitter ⚠
- p.Arg651Cys Single submitter ⚠
- p.Arg670Cys Single submitter ⚠
- p.Arg710Gln Single submitter ⚠
- p.Arg710Trp Single submitter ⚠
- p.Arg722Trp Single submitter ⚠
- p.Arg728Cys Single submitter ⚠
- p.Arg739Pro Single submitter ⚠
- p.Arg767His Single submitter ⚠
- p.Arg777Gln Single submitter ⚠
- p.Arg790Cys Single submitter ⚠
- p.Arg790His Single submitter ⚠
- p.Arg869His Single submitter ⚠
- p.Arg942Cys Single submitter ⚠
- p.Arg942His Single submitter ⚠
- p.Asn13Thr Single submitter ⚠
- p.Asn6Lys Single submitter ⚠
- p.Asn886Lys Single submitter ⚠
- p.Asp246Glu Single submitter ⚠
- p.Asp352His Single submitter ⚠
- p.Asp372Asn Single submitter ⚠
- p.Asp3Asn Single submitter ⚠
- p.Asp526Asn Single submitter ⚠
- p.Asp583Gly Single submitter ⚠
- p.Asp652Asn Single submitter ⚠
- p.Asp678Asn Single submitter ⚠
- p.Asp824Glu Single submitter ⚠
- p.Cys163Tyr Single submitter ⚠
- p.Cys487Tyr Single submitter ⚠
- p.Cys57Tyr Single submitter ⚠
- p.Cys666Tyr Single submitter ⚠
- p.Gln1006Arg Single submitter ⚠
- p.Gln1060His Single submitter ⚠
- p.Gln1140Lys Single submitter ⚠
- p.Gln202His Single submitter ⚠
- p.Gln337Pro Single submitter ⚠
- p.Gln345His Single submitter ⚠
- p.Gln84Glu Single submitter ⚠
- p.Glu101Asp Single submitter ⚠
- p.Glu1108Gly Single submitter ⚠
- p.Glu1111Lys Single submitter ⚠
- p.Glu1115del Single submitter
- p.Glu1176Gln Single submitter ⚠
- p.Glu176Val Single submitter ⚠
- p.Glu207Asp Single submitter ⚠
- p.Glu23Lys Single submitter ⚠
- p.Glu266Lys Single submitter ⚠
- p.Glu295Asp Single submitter ⚠
- p.Glu41Ala Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu585Lys Single submitter ⚠
- p.Glu618Lys Single submitter ⚠
- p.Glu706Lys Single submitter ⚠
- p.Glu758Lys Single submitter ⚠
- p.Gly1025Ser Single submitter ⚠
- p.Gly1038Asp Single submitter ⚠
- p.Gly1071Glu Single submitter ⚠
- p.Gly1126Ser Single submitter ⚠
- p.Gly1133Ile Single submitter
- p.Gly1133Ser Single submitter ⚠
- p.Gly1133Val Single submitter ⚠
- p.Gly128Ser Single submitter ⚠
- p.Gly21Trp Single submitter ⚠
- p.Gly226Asp Single submitter ⚠
- p.Gly25Arg Single submitter ⚠
- p.Gly269Ala Single submitter ⚠
- p.Gly277Val Single submitter ⚠
- p.Gly2Asp Single submitter ⚠
- p.Gly307Arg Single submitter hearing loss, autosomal dominant 82 ⚠
- p.Gly353Arg Single submitter ⚠
- p.Gly517Ser Single submitter ⚠
- p.Gly641Arg Single submitter ⚠
- p.Gly704Val Single submitter ⚠
- p.Gly70Val Single submitter ⚠
- p.Gly825Glu Single submitter ⚠
- p.Gly941Ser Single submitter ⚠
- p.His1017Tyr Single submitter ⚠
- p.His125Gln Single submitter ⚠
- p.His263Leu Single submitter ⚠
- p.His749Pro Single submitter ⚠
- p.Ile1016Val Single submitter ⚠
- p.Ile1046Thr Single submitter ⚠
- p.Ile1175Met Single submitter ⚠
- p.Ile162Phe Single submitter ⚠
- p.Ile162Thr Single submitter ⚠
- p.Ile208Phe Single submitter ⚠
- p.Ile213Met Single submitter ⚠
- p.Ile236Asn Single submitter ⚠
- p.Ile236Thr Single submitter ⚠
- p.Ile46Met Single submitter ⚠
- p.Ile46Val Single submitter ⚠
- p.Ile524Met Single submitter ⚠
- p.Ile530Val Single submitter ⚠
- p.Ile544Thr Single submitter ⚠
- p.Ile693Thr Single submitter ⚠
- p.Ile705Phe Single submitter ⚠
- p.Ile725Asn Single submitter ⚠
- p.Ile781Phe Single submitter ⚠
- p.Ile839Asn Single submitter ⚠
- p.Ile851Phe Single submitter ⚠
- p.Ile852Met Single submitter ⚠
- p.Ile891Met Single submitter ⚠
- p.Ile966Phe Single submitter ⚠
- p.Leu1061Pro Single submitter ⚠
- p.Leu108Val Single submitter ⚠
- p.Leu1151_Tyr1152insTer Single submitter
- p.Leu166Met Single submitter ⚠
- p.Leu234Val Single submitter ⚠
- p.Leu31Phe Single submitter ⚠
- p.Leu538Gln Single submitter ⚠
- p.Leu936Val Single submitter ⚠
- p.Lys191Val Single submitter
- p.Lys61Arg Single submitter ⚠
- p.Lys634Arg Single submitter ⚠
- p.Lys634Met Single submitter ⚠
- p.Met1Thr Single submitter
- p.Met357Val Single submitter ⚠
- p.Met4Ile Single submitter ⚠
- p.Met4Val Single submitter hearing loss disorder ⚠
- p.Met509Leu Single submitter ⚠
- p.Met535Thr Single submitter ⚠
- p.Met622Ile Single submitter ⚠
- p.Met622Val Single submitter ⚠
- p.Phe444Ser Single submitter ⚠
- p.Pro1030Arg Single submitter ⚠
- p.Pro1053Ser Single submitter ⚠
- p.Pro1158Ala Single submitter ⚠
- p.Pro1202Leu Single submitter ⚠
- p.Pro1203Leu Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Pro204Ala Single submitter ⚠
- p.Pro256Ala Single submitter ⚠
- p.Pro750Leu Single submitter ⚠
- p.Pro904Arg Single submitter ⚠
- p.Pro92Ala Single submitter ⚠
- p.Pro92Thr Single submitter ⚠
- p.Pro939Leu Single submitter ⚠
- p.Pro945Leu Single submitter ⚠
- p.Ser1163Pro Single submitter hearing loss, autosomal dominant 82 ⚠
- p.Ser11Tyr Single submitter ⚠
- p.Ser1242Leu Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser377Arg Single submitter hearing loss, autosomal dominant 82 ⚠
- p.Ser466Trp Single submitter ⚠
- p.Ser470Leu Single submitter ⚠
- p.Ser528Thr Single submitter ⚠
- p.Ser610Thr Single submitter hearing loss, autosomal dominant 82 ⚠
- p.Ser619Asn Single submitter ⚠
- p.Ser849Pro Single submitter ⚠
- p.Thr1188Ser Single submitter ⚠
- p.Thr1241Met Single submitter ⚠
- p.Thr136Met Single submitter ⚠
- p.Thr168Met Single submitter ⚠
- p.Thr27Ala Single submitter ⚠
- p.Thr27Lys Single submitter ⚠
- p.Thr417Ser Single submitter ⚠
- p.Thr532Ser Single submitter ⚠
- p.Thr53Ile Single submitter ⚠
- p.Thr53Pro Single submitter ⚠
- p.Thr5Ile Single submitter ⚠
- p.Thr601Asn Single submitter ⚠
- p.Thr698Ile Single submitter ⚠
- p.Thr737Met Single submitter ⚠
- p.Thr809Ile Single submitter ⚠
- p.Thr895Lys Single submitter ⚠
- p.Thr931Met Single submitter ⚠
- p.Thr933Ser Single submitter ⚠
- p.Thr94Ser Single submitter ⚠
- p.Trp173Cys Single submitter ⚠
- p.Tyr469His Single submitter ⚠
- p.Val1036Met Single submitter ⚠
- p.Val1144Leu Single submitter ⚠
- p.Val194Met Single submitter ⚠
- p.Val252Met Single submitter ⚠
- p.Val264Leu Single submitter ⚠
- p.Val304Leu Single submitter ⚠
- p.Val409Ala Single submitter ATP2B2-related disorder ⚠
- p.Val437Met Single submitter ⚠
- p.Val448Met Single submitter ⚠
- p.Val44Leu Single submitter ⚠
- p.Val450Leu Single submitter ⚠
- p.Val511Ala Single submitter ⚠
- p.Val512Ala Single submitter ⚠
- p.Val519_Asp526del Single submitter
- p.Val577Met Single submitter ⚠
- p.Val660Met Single submitter ⚠
- p.Val674Met Single submitter ⚠
- p.Val703Leu Single submitter ⚠
- p.Val833Met Single submitter ⚠
- p.Val862Ile Single submitter ⚠
- p.Val865Glu Single submitter ⚠
- p.Val888Met Single submitter ⚠
- c.3420+2048G>A No assertion criteria ATP2B2-related disorder
- p.Arg606Cys No assertion criteria ATP2B2-related disorder ⚠
- p.Lys614_Leu615insArgLysSerMetSerThrValIleLys No assertion criteria ATP2B2-related disorder
- p.Val452Gly No assertion criteria neurodevelopmental disorder ⚠