Total 1 pathogenic variants reported for Primary biliary cholangitis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)	SNV Germline	Chr9:69252864	Conflicting classifications of pathogenicity	Hypercholanemia, familial 1 Cholestasis, progressive familial intrahepatic, 4 Hypercholanemia, familial 1 Primary biliary cholangitis Condition: not provided TJP2-related disorder	Criteria Provided Conflicting Classifications	CA5073949	rs_376663560	6 SubmittersRCV001250044 RCV002248632 RCV003447525 RCV001850941 RCV003897819