| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Uncertain significance; Benign |
rs2554994, rs546089281, rs376483443 |
RCV005891940 RCV005896441 RCV005913687 |
| Cervical cancer |
Likely benign |
rs45475694, rs1991303 |
RCV005916420 RCV005917641 |
| Cholangiocarcinoma |
Benign |
rs546089281 |
RCV005896443 |
| Congenital disorder of glycosylation |
Uncertain significance; Likely benign; Conflicting classifications of pathogenicity |
rs886047666, rs782298169, rs3833761, rs886047663, rs886047672, rs534577430, rs150703313, rs371625196, rs782323400, rs886047668, rs886047671, rs782618635, rs782084496, rs573760463, rs886047664, rs376955296, rs886047665, rs886047669, rs886047670, rs541176886 View all (5 more) |
RCV000363122 RCV000375575 RCV000263848 RCV000302692 RCV000296484 RCV000401254 RCV000368486 RCV000383905 RCV000348407 RCV000384714 RCV000388364 RCV000340766 RCV000274374 RCV000288294 RCV000359530 RCV000267404 RCV000324881 RCV000292804 RCV000331541 RCV000272683 RCV000276255 |
| Familial cancer of breast |
Benign; Likely benign |
rs72994380, rs188642550, rs528601164 |
RCV005887644 RCV005916324 RCV005896426 |
| Familial cystic renal disease |
Uncertain significance |
rs782761440 |
RCV005429427 |
| Gastric cancer |
Benign |
rs546089281 |
RCV005896442 |
| Gillessen-Kaesbach-Nishimura dysplasia |
Conflicting classifications of pathogenicity |
rs786205134 |
RCV000170339 |
| Hepatocellular carcinoma |
Benign |
rs72994380 |
RCV005887645 |
| Lung cancer |
Likely benign; Benign |
rs17113305, rs528601164 |
RCV005931697 RCV005896428 |
| Malignant lymphoma, large B-cell, diffuse |
Benign |
rs72994380 |
RCV005887646 |
| Malignant tumor of esophagus |
Likely benign; Benign |
rs1991303, rs528601164 |
RCV005917640 RCV005896427 |
| Ovarian serous cystadenocarcinoma |
Likely benign |
rs45475694 |
RCV005916422 |
| Sarcoma |
Likely benign |
rs188642550, rs45475694, rs1991303 |
RCV005916325 RCV005916421 RCV005917642 |
| See cases |
Conflicting classifications of pathogenicity |
rs36111204 |
RCV002251972 |
| Thymoma |
Likely benign |
rs45475694 |
RCV005916423 |
| Uterine carcinosarcoma |
Benign |
rs72994380 |
RCV005887647 |
| Uterine corpus endometrial carcinoma |
Likely benign |
rs1991303 |
RCV005917643 |