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	Cholestasis, progressive familial intrahepatic, 4 Hypercholanemia, familial 1 Primary biliary cholangitis Hypercholanemia, familial 1 TJP2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA5073949	rs_376663560	5 SubmittersRCV001250044 RCV003447525 RCV002248632 RCV003897819 RCV001850941