| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Acute myeloid leukemia |
Conflicting classifications of pathogenicity; Benign |
rs143298463, rs61731219 |
RCV005895165 RCV005891216 |
| Cervical cancer |
Conflicting classifications of pathogenicity; Benign |
rs143298463, rs61731219 |
RCV005895167 RCV005891217 |
| Clear cell carcinoma of kidney |
Benign |
rs56219052 |
RCV005905169 |
| Colon adenocarcinoma |
Benign |
rs61731219 |
RCV005891215 |
| Colorectal cancer |
Conflicting classifications of pathogenicity; Benign |
rs143298463, rs61731219 |
RCV005895168 RCV005891219 |
| Congenital heart disease |
Likely benign |
rs577978373 |
RCV005626814 |
| Familial cancer of breast |
Likely benign |
rs145867391 |
RCV005931344 |
| Gastric cancer |
Benign |
rs744501 |
RCV005918513 |
| Hepatocellular carcinoma |
Benign; Conflicting classifications of pathogenicity |
rs4774621, rs143298463 |
RCV005919652 RCV005895166 |
| Hereditary breast ovarian cancer syndrome |
Uncertain significance |
rs2038687080 |
RCV001374539 |
| Intellectual disability |
Conflicting classifications of pathogenicity; Likely benign |
rs56132571, rs147898420, rs199749277, rs1252205617, rs2042532335 |
RCV001252332 RCV001252330 RCV001252329 RCV001252331 RCV001252333 |
| Malignant tumor of esophagus |
Likely benign |
rs764237573 |
RCV005870963 |
| Malignant tumor of urinary bladder |
Benign |
rs56219052 |
RCV005905168 |
| Melanoma |
Conflicting classifications of pathogenicity; Benign |
rs143298463, rs56219052 |
RCV005895170 RCV005905171 |
| MYO5A-related disorder |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs199984961, rs186277072, rs370561421, rs376265116, rs748120877, rs577978373, rs373327087, rs748803995, rs369192466, rs750173276, rs2543406296, rs747382970, rs1004466186, rs2041412813, rs769898622, rs9282796, rs764237573, rs147898420, rs147582503, rs150624865, rs752461164, rs199675131, rs757170130 View all (8 more) |
RCV004757415 RCV003948839 RCV003958731 RCV003926351 RCV003898776 RCV003938927 RCV003954289 RCV003949006 RCV003894552 RCV003977233 RCV003931642 RCV003941694 RCV003949638 RCV003914481 RCV003954533 RCV003933278 RCV003930639 RCV003950694 RCV003895537 RCV003975743 RCV003950864 RCV003970633 RCV004757359 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs744501, rs61731219 |
RCV005918514 RCV005891220 |
| Sarcoma |
Benign |
rs744501, rs56219052 |
RCV005918512 RCV005905170 |
| Thymoma |
Benign |
rs61731219 |
RCV005891221 |
| Thyroid cancer, nonmedullary, 1 |
Conflicting classifications of pathogenicity |
rs143298463 |
RCV005895169 |
| Uterine corpus endometrial carcinoma |
Benign |
rs56219052 |
RCV005905172 |
| Uveal melanoma |
Benign |
rs61731219 |
RCV005891218 |