| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal dominant polycystic liver disease |
Pathogenic; Likely pathogenic |
rs1787750092, rs2114458613, rs1011931149, rs2114454119, rs2114453997, rs768615942, rs779331877, rs2114434218, rs2114476431, rs2114406531, rs2114476499, rs2114476485, rs1403483213, rs1787002281, rs749842172, rs2114426916, rs1787041288, rs2114447040, rs2114461992, rs2114406508, rs768568123, rs2114403750, rs2114487759, rs755795110 View all (9 more) |
RCV005361587 RCV001844876 RCV001844886 RCV001844892 RCV001844905 RCV001844916 RCV001844928 RCV001844934 RCV001844945 RCV001844949 RCV001844951 RCV001844952 RCV001844953 RCV001844954 RCV001844955 RCV001844957 RCV001844958 RCV001844959 RCV001844960 RCV001844961 RCV001844962 RCV001844963 RCV001844964 RCV001844965 |
| Biliary tract abnormality |
Likely pathogenic; Pathogenic |
rs768568123 |
RCV005622119 |
| Polycystic liver disease 1 |
Likely pathogenic; Pathogenic |
rs869312977, rs869312978 |
RCV000210666 RCV000210741 |
| Polycystic liver disease 2 |
Pathogenic; Likely pathogenic |
rs2114446923, rs768615942, rs1403483213, rs768568123, rs2114403750, rs755795110, rs773300876, rs1787039042, rs119103233, rs886041027, rs886041028, rs2482059146, rs752868449, rs1323035335, rs869312977, rs2482042289, rs753182877, rs2482054151, rs1554236269, rs1787041288 View all (5 more) |
RCV001353245 RCV002477879 RCV003992538 RCV002471134 RCV002488454 RCV002506715 RCV001783724 RCV002497853 RCV000002251 RCV000002252 RCV000002253 RCV002471763 RCV002500471 RCV005034440 RCV005031784 RCV003319955 RCV003319956 RCV004018021 RCV000625615 RCV001280819 |
| SEC63-related disorder |
Likely pathogenic; Pathogenic |
rs1403483213, rs2114403750, rs2481999708 |
RCV003394193 RCV003405746 RCV003983385 |
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| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal dominant medullary cystic kidney disease with or without hyperuricemia |
Conflicting classifications of pathogenicity |
rs115710123 |
RCV001328095 |
| Cholangiocarcinoma |
Benign; Likely benign; Conflicting classifications of pathogenicity |
rs9373986, rs77730234, rs66526324, rs115710123 |
RCV005922029 RCV005922619 RCV005869384 RCV005909315 |
| Chronic lymphocytic leukemia/small lymphocytic lymphoma |
Benign; Likely benign |
rs398124248, rs749125299, rs66526324 |
RCV005868241 RCV005869918 RCV005869385 |
| Colon adenocarcinoma |
Uncertain significance; Benign |
rs66526324, rs143570743 |
RCV005867168 RCV005899024 |
| Colorectal cancer |
Benign |
rs398124248 |
RCV005868239 |
| Familial cancer of breast |
Benign; Likely benign |
rs77730234, rs2064201, rs143570743 |
RCV005922616 RCV005922620 RCV005888461 RCV005899023 |
| Familial pancreatic carcinoma |
Benign; Likely benign |
rs398124248, rs66526324 |
RCV005868238 RCV005869381 |
| Gastric cancer |
Likely benign |
rs78128983 |
RCV005914762 |
| Hepatocellular carcinoma |
Benign; Likely benign |
rs66526324 |
RCV005869378 |
| Lung cancer |
Likely benign |
rs78128983 |
RCV005914765 |
| Lymphoma |
Benign; Likely benign |
rs398124248, rs66526324 |
RCV005868240 RCV005869383 |
| Malignant lymphoma, large B-cell, diffuse |
Benign; Likely benign |
rs77730234, rs66526324 |
RCV005922618 RCV005869382 |
| Malignant tumor of esophagus |
Benign; Likely benign |
rs77730234 |
RCV005922617 |
| Nonpapillary renal cell carcinoma |
Uncertain significance; Benign; Likely benign |
rs66526324, rs398124248 |
RCV005867169 RCV005868237 RCV005869379 |
| Ovarian cancer |
Benign; Likely benign |
rs66526324 |
RCV005869380 |
| Ovarian serous cystadenocarcinoma |
Likely benign |
rs78128983 |
RCV005914763 |
| Sarcoma |
Likely benign |
rs78128983 |
RCV005914761 |
| Thymoma |
Likely benign |
rs78128983, rs901861082 |
RCV005914764 RCV005905260 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs143570743 |
RCV005899025 |
| Uterine carcinosarcoma |
Benign; Conflicting classifications of pathogenicity |
rs9373986, rs115710123 |
RCV005922028 RCV005909314 |
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