Total 2 pathogenic variants reported for Cholangiocarcinoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser)	SNV Germline	Chr5:112843926	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 1 Neoplasm of the liver Hepatocellular carcinoma Intrahepatic cholangiocarcinoma Condition: not provided APC-related disorder Familial adenomatous polyposis 1 Desmoid disease, hereditary	Criteria Provided Conflicting Classifications	CA014561	rs_587778046	12 SubmittersRCV000120047 RCV000163521 RCV000199434 RCV000677785 RCV000677786 RCV000677787 RCV001704030 RCV003952585 RCV005359131
NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser)	SNV Germline	Chr14:61740839	Conflicting classifications of pathogenicity	Condition: not provided Cholangiocarcinoma	Criteria Provided Conflicting Classifications	CA7216005	rs_11549465	3 SubmittersRCV003481485 RCV003312797