ATP8B4 — 169 ClinVar variants

All ClinVar germline ATP8B4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 152 flagged for review →

2 Benign · 8 Likely benign · 159 Uncertain significance

Full ATP8B4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 152

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors lean, ClinVar uncertain 121

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 31

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

All ATP8B4 variants

Benign 2

p.Ala442= Multiple submitters
p.Asn1165Lys Multiple submitters

Likely benign 8

p.Ala442Val Single submitter
p.Arg176Cys Single submitter ⚠
p.Asp563= Single submitter
p.Pro371His Single submitter ⚠
p.Tyr414= Single submitter
p.Val116= Single submitter
p.Val935Met Single submitter
p.Val959Met Single submitter

Uncertain significance 159

p.Ala1106Ser Single submitter ⚠
p.Ala1150Thr Single submitter ⚠
p.Ala29Val Single submitter ⚠
p.Ala56Ser Single submitter
p.Ala618Thr Single submitter ⚠
p.Ala645Thr Single submitter ⚠
p.Ala764Thr Single submitter ⚠
p.Ala796Thr Single submitter ⚠
p.Ala995Glu Single submitter ⚠
p.Arg102Cys Single submitter ⚠
p.Arg1101Cys Single submitter ⚠
p.Arg1101His Single submitter ⚠
p.Arg1116Gln Single submitter ⚠
p.Arg1116Pro Single submitter ⚠
p.Arg1121His Single submitter ⚠
p.Arg1126Gly Single submitter ⚠
p.Arg112Trp Single submitter ⚠
p.Arg1149Leu Single submitter ⚠
p.Arg176His Single submitter ⚠
p.Arg32His Single submitter ⚠
p.Arg361Gln Single submitter ⚠
p.Arg361Trp Single submitter ⚠
p.Arg549Gln Single submitter ⚠
p.Arg594Gln Single submitter ⚠
p.Arg594Trp Single submitter ⚠
p.Arg852Ser Single submitter ⚠
p.Arg953Cys Single submitter ⚠
p.Arg953His Single submitter ⚠
p.Arg953Ser Single submitter ⚠
p.Asn110Ser Single submitter ⚠
p.Asn111His Single submitter ⚠
p.Asn141Thr Single submitter ⚠
p.Asn505His Single submitter ⚠
p.Asn538Ser Single submitter ⚠
p.Asn539Thr Single submitter ⚠
p.Asn667Asp Single submitter ⚠
p.Asn683Ser Single submitter ⚠
p.Asn933Lys Single submitter ⚠
p.Asn979Ser Single submitter ⚠
p.Asp106Tyr Single submitter ⚠
p.Asp219Glu Single submitter ⚠
p.Asp392Asn Single submitter ⚠
p.Asp443Val Single submitter ⚠
p.Asp697Val Single submitter ⚠
p.Asp743His Single submitter ⚠
p.Asp984Glu Single submitter ⚠
p.Cys1174Tyr Single submitter ⚠
p.Cys160Tyr Single submitter ⚠
p.Cys780Ser Single submitter ⚠
p.Cys788Phe Single submitter ⚠
p.Cys937Phe Single submitter ⚠
p.Gln142His Single submitter ⚠
p.Gln257Lys Single submitter ⚠
p.Gln429Glu Single submitter ⚠
p.Gln932Arg Single submitter ⚠
p.Glu1171Ala Single submitter ⚠
p.Glu170Val Single submitter ⚠
p.Glu616Lys Single submitter ⚠
p.Glu635Asp Single submitter ⚠
p.Glu735Gly Single submitter ⚠
p.Glu983Lys Single submitter ⚠
p.Gly250Asp Single submitter ⚠
p.Gly282Ala Single submitter ⚠
p.Gly315Arg Single submitter ⚠
p.Gly485Glu Single submitter ⚠
p.Gly592Asp Single submitter ⚠
p.Gly644Asp Single submitter ⚠
p.Gly814Val Single submitter ⚠
p.Gly829Asp Single submitter ⚠
p.Gly944Arg Single submitter ⚠
p.Gly985Glu Single submitter
p.His1022Arg Single submitter
p.His451Arg Single submitter ⚠
p.His887Arg Single submitter ⚠
p.Ile1025Leu Single submitter ⚠
p.Ile1067Met Single submitter ⚠
p.Ile14Arg Single submitter ⚠
p.Ile235Leu Single submitter ⚠
p.Ile33Met Single submitter ⚠
p.Ile386Thr Single submitter
p.Ile413Asn Single submitter ⚠
p.Ile813Thr Single submitter ⚠
p.Ile907Phe Single submitter ⚠
p.Ile907Val Single submitter ⚠
p.Ile988Thr Single submitter ⚠
p.Leu1062Pro Single submitter ⚠
p.Leu1088Ser Single submitter
p.Leu1173Ser Single submitter ⚠
p.Leu179Val Single submitter ⚠
p.Leu351Val Single submitter ⚠
p.Leu473Val Single submitter ⚠
p.Leu838Phe Single submitter ⚠
p.Leu859Pro Single submitter ⚠
p.Leu909Pro Single submitter ⚠
p.Leu946Pro Single submitter ⚠
p.Lys104Glu Single submitter ⚠
p.Lys1175Asn Single submitter ⚠
p.Lys1175Glu Single submitter ⚠
p.Lys1188Glu Single submitter ⚠
p.Lys1191Gln Single submitter ⚠
p.Lys6Met Single submitter ⚠
p.Lys942Thr Single submitter ⚠
p.Met1080Thr Single submitter ⚠
p.Met128Leu Single submitter ⚠
p.Met256Ile Single submitter ⚠
p.Met256Lys Single submitter ⚠
p.Met273Val Single submitter ⚠
p.Met695Leu Single submitter ⚠
p.Met781Ile Single submitter ⚠
p.Met90Val Single submitter ⚠
p.Phe1048Leu Single submitter ⚠
p.Phe1087Leu Single submitter ⚠
p.Phe510Leu Single submitter ⚠
p.Phe52Val Single submitter ⚠
p.Phe567Cys Single submitter
p.Phe567Leu Single submitter ⚠
p.Phe872Leu Single submitter ⚠
p.Pro251Ala Single submitter ⚠
p.Pro371Arg Single submitter ⚠
p.Pro83Ala Single submitter ⚠
p.Pro83Ser Single submitter ⚠
p.Ser1001Thr Single submitter ⚠
p.Ser1034Cys Single submitter ⚠
p.Ser318Ile Single submitter ⚠
p.Ser319Pro Single submitter ⚠
p.Ser512Phe Single submitter ⚠
p.Ser662Ile Single submitter ⚠
p.Ser769Thr Single submitter ⚠
p.Ser966Leu Single submitter ⚠
p.Thr1075Ala Single submitter ⚠
p.Thr1075Ile Single submitter ⚠
p.Thr1189Ala Single submitter ⚠
p.Thr164Ile Single submitter ⚠
p.Thr171Met Single submitter ⚠
p.Thr35Ile Single submitter ⚠
p.Thr581Ala Single submitter ⚠
p.Thr581Met Single submitter ⚠
p.Thr915Ser Single submitter ⚠
p.Trp1017Arg Single submitter ⚠
p.Tyr343His Single submitter ⚠
p.Tyr414Cys Single submitter ⚠
p.Tyr875Cys Single submitter ⚠
p.Tyr878Cys Single submitter ⚠
p.Tyr964His Single submitter
p.Tyr974Cys Single submitter ⚠
p.Tyr991Cys Single submitter ⚠
p.Val1005Ala Single submitter ⚠
p.Val1023Ile Single submitter ⚠
p.Val1055Ile Single submitter ⚠
p.Val116Glu Single submitter ⚠
p.Val1181Met Single submitter ⚠
p.Val15Ala Single submitter
p.Val203Met Single submitter ⚠
p.Val348Ile Single submitter ⚠
p.Val477Ile Single submitter ⚠
p.Val660Leu Single submitter ⚠
p.Val790Ile Single submitter ⚠
p.Val886Leu Single submitter
p.Val901Phe Single submitter ⚠