| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Adrenocortical carcinoma, hereditary |
Uncertain significance |
rs747762064 |
RCV005913700 |
| Autosomal dominant thrombocytopenia |
Uncertain significance |
rs1239580692 |
RCV002244251 |
| MASTL-related disorder |
Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity |
rs200461088, rs2539969168, rs2539708321, rs537654014, rs1012781973, rs141882356, rs142221261, rs144174245, rs767592505, rs146116709, rs746804927, rs756961236, rs148839815, rs144503451, rs146165894, rs140163549, rs41282224, rs34635408, rs190402403 View all (4 more) |
RCV003417126 RCV003402283 RCV003400404 RCV003410580 RCV003391303 RCV003924007 RCV003902221 RCV003904662 RCV003916823 RCV003976804 RCV003983520 RCV003959444 RCV003967862 RCV003953474 RCV003918683 RCV003973075 RCV003945814 RCV003918688 RCV003938448 |
| Scimitar anomaly, multiple cardiac malformations, and craniofacial and central nervous system abnormalities |
Uncertain significance |
rs2539964632 |
RCV002466943 |
| Thrombocytopenia |
Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity |
rs7919803, rs7907981, rs7907988, rs151176548, rs56204835, rs7068375, rs36121140, rs1981296, rs3802526, rs41282228, rs10741130, rs10764686, rs886046952, rs41282214, rs886046955, rs150868633, rs751957791, rs886046958, rs545742347, rs369253474, rs759432726, rs370730895, rs886046960, rs10764687, rs1338, rs886046963, rs574340842, rs3824594, rs3824593, rs374260260, rs377728904, rs749431813, rs886046959, rs570707157, rs886046962, rs41282216, rs115175971, rs28365962, rs886046953, rs886046954, rs553530687, rs566954562, rs554557381, rs886046957, rs148839815, rs139695329, rs761812157, rs886046961, rs150341657, rs138288481, rs2057331026, rs201425706, rs750516173, rs148318181, rs370895860, rs144503451, rs146165894, rs117134003, rs145821259, rs74126920, rs147548167, rs2057895488, rs35413630, rs145592194, rs140163549, rs747762064, rs41282224, rs34635408, rs200073086, rs140272771, rs1188516311, rs752083792, rs570139166, rs190402403 View all (59 more) |
RCV001106116 RCV000265571 RCV000323031 RCV001106117 RCV000323174 RCV000283283 RCV000334567 RCV000364431 RCV000404316 RCV000361095 RCV000372462 RCV000296331 RCV000285992 RCV000343410 RCV000312082 RCV000261910 RCV000380017 RCV000338217 RCV000374215 RCV000407875 RCV000306486 RCV000266538 RCV000262564 RCV000332560 RCV000348212 RCV000391324 RCV000354245 RCV000300651 RCV000357922 RCV000377754 RCV000279577 RCV000313648 RCV000321165 RCV000387040 RCV000293253 RCV000403931 RCV000357279 RCV000381640 RCV000289925 RCV000347260 RCV000393935 RCV000350832 RCV000296987 RCV000268125 RCV000407871 RCV000349549 RCV000309782 RCV000317769 RCV001106207 RCV001105157 RCV001106118 RCV001108329 RCV001103149 RCV001103151 RCV001103152 RCV001103153 RCV001105059 RCV001105060 RCV001105061 RCV001105062 RCV001105063 RCV001106206 RCV001106208 RCV001108423 RCV001108424 RCV001108425 RCV001108426 RCV001108427 RCV001103243 RCV001103244 RCV001103245 RCV001105158 RCV001105159 RCV001103150 |
| Thrombocytopenia 2 |
Uncertain significance; Benign; Likely benign |
rs28941470, rs535159862, rs138288481 |
RCV000002573 RCV000714836 RCV002466596 |
|