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
Criteria Provided
Conflicting Classifications
CA014561 rs_587778046

11 SubmittersRCV000120047RCV000163521RCV000199434RCV000677785RCV000677786RCV000677787RCV001704030RCV003952585

NM_001530.4(HIF1A):c.1744C>T (p.Pro582Ser) SNV
Germline
Chr14:61740839 Conflicting classifications of pathogenicity Cholangiocarcinoma
Condition: not provided
Criteria Provided
Conflicting Classifications

3 SubmittersRCV003312797RCV003481485