ATP2B4 — 294 ClinVar variants

All ClinVar germline ATP2B4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

9 Conflicting · 30 Benign · 1 Benign/Likely benign · 77 Likely benign · 177 Uncertain significance

Full ATP2B4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ATP2B4 variants

Conflicting classifications of pathogenicity 9

p.Ala1048Thr Single submitter
p.Ala1109Val Single submitter
p.Ala666Thr Single submitter
p.Arg1144Pro Single submitter
p.Arg7His Single submitter
p.Arg993Cys Single submitter
p.Ile640Val Single submitter
p.Lys940Arg Single submitter
p.Thr1051Asn Single submitter

Benign 30

c.1557+18G>A Multiple submitters
c.2032-3T>C Multiple submitters
c.3133-10T>C Multiple submitters
p.Ala1073= Multiple submitters
p.Ala937= Multiple submitters
p.Asn555= Multiple submitters
p.Asn656= Multiple submitters
p.Asn733= Multiple submitters
p.Glu661Lys Multiple submitters
p.Gly229= Multiple submitters
p.Gly288Val Multiple submitters
p.Leu106= Multiple submitters
p.Leu1097= Multiple submitters
p.Pro558= Multiple submitters
p.Pro613= Multiple submitters
p.Ser1053Phe Multiple submitters
p.Ser37= Multiple submitters
p.Thr374= Multiple submitters
p.Thr515= Multiple submitters
p.Val342Ala Multiple submitters
p.Arg7Ser Single submitter
p.Asn616His Single submitter
p.Glu187= Single submitter
p.Ile161= Single submitter
p.Ile665= Single submitter
p.Pro894Ser Single submitter
p.Pro904= Single submitter
p.Thr2Met Single submitter
p.Thr535= Single submitter
p.Ser1194Leu No assertion criteria ATP2B4-related disorder

Benign/Likely benign 1

p.Val46Ile Multiple submitters

Likely benign 77

p.Arg7Cys Multiple submitters
p.Asn195= Multiple submitters
p.Met14Thr Multiple submitters
c.1799+12C>T Single submitter
c.1799+17A>G Single submitter
c.2211+17G>A Single submitter
c.2300-11G>A Single submitter
c.2300-13C>T Single submitter
c.2300-4C>G Single submitter
c.2407-5C>T Single submitter
c.2599-18G>C Single submitter
c.2599-5G>A Single submitter
c.2599-6C>T Single submitter
c.3025-19G>A Single submitter
c.3132+17C>T Single submitter
c.3132+9C>T Single submitter
c.3133-13C>T Single submitter
c.3133-17G>A Single submitter
c.3133-6T>G Single submitter
c.3309+11A>G Single submitter
c.3309+5678G>A Single submitter
c.3309+5729T>C Single submitter
c.3309+5836_3309+5838dup Single submitter
c.3310-10C>G Single submitter
c.3310-7G>C Single submitter
c.649+12G>A Single submitter
c.650-6C>T Single submitter
c.775+9C>G Single submitter
c.776-7C>T Single submitter
p.Ala1109= Single submitter
p.Ala552= Single submitter
p.Ala666= Single submitter
p.Ala854= Single submitter
p.Arg1052Gln Single submitter
p.Arg903Cys Single submitter
p.Asn986= Single submitter
p.Asp1157Glu Single submitter
p.Asp141= Single submitter
p.Asp170= Single submitter
p.Asp317= Single submitter
p.Gln353= Single submitter
p.Glu1116Lys Single submitter
p.Glu423= Single submitter
p.Gly364= Single submitter
p.Gly592= Single submitter
p.Gly609Ala Single submitter
p.Gly634= Single submitter
p.Ile114= Single submitter
p.Ile225= Single submitter
p.Ile332= Single submitter
p.Ile412= Single submitter
p.Ile658= Single submitter
p.Ile991= Single submitter
p.Leu239= Single submitter
p.Leu54= Single submitter
p.Leu720= Single submitter
p.Leu888= Single submitter
p.Lys684= Single submitter
p.Phe645= Single submitter
p.Pro650= Single submitter
p.Pro894= Single submitter
p.Pro910= Single submitter
p.Ser1160Pro Single submitter
p.Ser13= Single submitter
p.Ser757= Single submitter
p.Thr663= Single submitter
p.Thr696= Single submitter
p.Thr763= Single submitter
p.Val1012= Single submitter
p.Val500= Single submitter
c.1800-9C>T No assertion criteria ATP2B4-related disorder
c.3132+10G>A No assertion criteria ATP2B4-related disorder
c.3132+3G>A No assertion criteria ATP2B4-related disorder
p.Asn309= No assertion criteria ATP2B4-related disorder
p.Asp1185= No assertion criteria ATP2B4-related disorder
p.Leu470= No assertion criteria ATP2B4-related disorder
p.Pro1192= No assertion criteria ATP2B4-related disorder

Uncertain significance 177

p.Arg554Cys Multiple submitters
p.Arg624Cys Multiple submitters
p.Arg732Cys Multiple submitters
p.Arg993Gly Multiple submitters
p.Asn851Ser Multiple submitters
p.Asp333Gly Multiple submitters
p.Asp502Asn Multiple submitters
p.Gly634Arg Multiple submitters
p.Ile384Val Multiple submitters
p.Phe410Val Multiple submitters
p.Phe925Leu Multiple submitters
p.Pro139Ser Multiple submitters
p.Ser1200Gly Multiple submitters
p.Val495Ile Multiple submitters
p.Val987Ile Multiple submitters
c.193+1G>C Single submitter
c.2599-5G>T Single submitter
c.3024+5G>C Single submitter
c.3309+5682G>T Single submitter
c.3309+5770C>T Single submitter
c.3309+5802C>T Single submitter
c.3310-3T>C Single submitter
c.902-2A>G Single submitter
c.938-3C>T Single submitter
p.Ala1137Asp Single submitter
p.Ala1183Val Single submitter
p.Ala136Thr Single submitter
p.Ala153Thr Single submitter
p.Ala222Val Single submitter
p.Ala341Val Single submitter
p.Ala366Pro Single submitter
p.Ala461Thr Single submitter
p.Ala683Gly Single submitter
p.Ala688Thr Single submitter
p.Ala703Ser Single submitter
p.Ala950Ser Single submitter
p.Arg123Cys Single submitter
p.Arg123His Single submitter
p.Arg123Ser Single submitter
p.Arg178Gln Single submitter
p.Arg183Cys Single submitter
p.Arg183His Single submitter
p.Arg183Leu Single submitter
p.Arg18Cys Single submitter
p.Arg18His Single submitter
p.Arg18Leu Single submitter
p.Arg18Ser Single submitter
p.Arg310His Single submitter
p.Arg310Leu Single submitter
p.Arg358His Single submitter
p.Arg391His Single submitter
p.Arg448Gln Single submitter
p.Arg474Cys Single submitter
p.Arg474His Single submitter
p.Arg488Cys Single submitter
p.Arg488His Single submitter
p.Arg529Trp Single submitter
p.Arg572Cys Single submitter
p.Arg599Cys Single submitter
p.Arg603Gln Single submitter
p.Arg607Gln Single submitter
p.Arg607Leu Single submitter
p.Arg624His Single submitter
p.Arg643Gln Single submitter
p.Arg675Cys Single submitter
p.Arg675His Single submitter
p.Arg704Gln Single submitter
p.Arg704Trp Single submitter
p.Arg732His Single submitter
p.Arg751Trp Single submitter
p.Arg755Leu Single submitter
p.Arg777Gln Single submitter
p.Arg777Trp Single submitter
p.Arg903His Single submitter
p.Arg903Leu Single submitter
p.Asn277Ser Single submitter
p.Asn506Ser Single submitter
p.Asn53Ser Single submitter
p.Asn583Ser Single submitter
p.Asn616Ser Single submitter
p.Asp218Tyr Single submitter
p.Asp21Ala Single submitter ATP2B4-related disorder
p.Asp21Asn Single submitter
p.Asp21Val Single submitter
p.Asp251Glu Single submitter
p.Asp620Glu Single submitter
p.Asp644Gly Single submitter
p.Asp646Asn Single submitter
p.Asp717Asn Single submitter
p.Gln213Pro Single submitter
p.Gln78His Single submitter
p.Glu1039Gly Single submitter
p.Glu140Gln Single submitter
p.Glu294Lys Single submitter
p.Glu308Gln Single submitter
p.Glu536Lys Single submitter
p.Glu559Asp Single submitter
p.Glu610Asp Single submitter
p.Glu628Lys Single submitter
p.Glu74Lys Single submitter
p.Glu95Lys Single submitter
p.Glu984Asp Single submitter
p.Glu99Gln Single submitter
p.Gly1016Asp Single submitter
p.Gly1043Asp Single submitter
p.Gly1171Cys Single submitter
p.Gly126Arg Single submitter
p.Gly288Glu Single submitter
p.Gly301Val Single submitter
p.Gly484Cys Single submitter
p.Gly50Ala Single submitter
p.Gly584Cys Single submitter
p.Gly689Val Single submitter
p.Gly711Asp Single submitter
p.Ile1037Thr Single submitter
p.Ile1049Val Single submitter
p.Ile1069Leu Single submitter
p.Ile108Thr Single submitter
p.Ile111Phe Single submitter
p.Ile184Met Single submitter
p.Ile363Thr Single submitter
p.Ile379Val Single submitter
p.Ile384Thr Single submitter
p.Ile627Val Single submitter
p.Ile706Val Single submitter
p.Ile856Thr Single submitter
p.Ile864Asn Single submitter
p.Leu106Phe Single submitter
p.Leu1147Phe Single submitter
p.Leu1167Pro Single submitter
p.Lys1058Arg Single submitter
p.Lys299Gln Single submitter
p.Lys499Glu Single submitter
p.Lys534Thr Single submitter
p.Lys709Asn Single submitter
p.Lys949Glu Single submitter
p.Met255Thr Single submitter
p.Met472Val Single submitter
p.Met831Thr Single submitter
p.Met875Ile Single submitter
p.Phe1034Leu Single submitter
p.Phe1045Leu Single submitter
p.Phe942Leu Single submitter
p.Pro520Ala Single submitter
p.Pro62Ser Single submitter
p.Pro715Leu Single submitter
p.Ser1023Ile Single submitter
p.Ser1160Tyr Single submitter
p.Ser1204Pro Single submitter
p.Ser278Ala Single submitter
p.Ser5Ala Single submitter
p.Ser825Thr Single submitter
p.Ser839Cys Single submitter
p.Thr1022Arg Single submitter
p.Thr1022Ile Single submitter
p.Thr60Ile Single submitter
p.Thr708Ile Single submitter
p.Trp877Cys Single submitter
p.Tyr563Cys Single submitter
p.Val1189Leu Single submitter
p.Val163Ala Single submitter
p.Val163Met Single submitter
p.Val203Leu Single submitter
p.Val289Leu Single submitter
p.Val344Met Single submitter
p.Val500Ala Single submitter
p.Val505Phe Single submitter
p.Val51Ile Single submitter
p.Val543Ile Single submitter
p.Val667Met Single submitter
p.Val765Met Single submitter
p.Val798Ile Single submitter
p.Val850Ile Single submitter
p.Val852Met Single submitter
p.Val857Ala Single submitter
p.Val968Met Single submitter
p.Asp333Glu No assertion criteria prostate cancer