| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Cervical cancer |
Benign |
rs61748283 |
RCV005931889 |
| History of neurodevelopmental disorder |
Likely benign; Benign; Uncertain significance |
rs150861758, rs61753876, rs141453548, rs142052951 |
RCV000720972 RCV000720941 RCV000721065 RCV000721070 |
| Intellectual disability |
Conflicting classifications of pathogenicity; Uncertain significance |
rs148721221, rs149300669, rs1931186403 |
RCV001251639 RCV001251638 RCV001251640 |
| Lung cancer |
Benign |
rs61748283 |
RCV005931891 |
| Sarcoma |
Benign |
rs61748283 |
RCV005931890 |
| See cases |
Conflicting classifications of pathogenicity; Uncertain significance |
rs149300669, rs950299265 |
RCV002251986 RCV002252448 |
| SHROOM4-related disorder |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs61753881, rs6614552, rs200860508, rs141331771, rs137923286, rs782099388, rs782168271, rs1230117461, rs1258060533, rs201191407, rs782673177, rs143058766, rs151180678, rs2519333148, rs1929223777, rs371469195, rs782582948, rs147607307, rs373003318, rs200540216, rs531622379, rs1012526566, rs189694750, rs3761506, rs143151534, rs782400213 View all (11 more) |
RCV003974984 RCV003974985 RCV003948699 RCV003971300 RCV003927807 RCV005399288 RCV003414089 RCV003400312 RCV003400379 RCV003411981 RCV003392811 RCV003894039 RCV003904650 RCV003911559 RCV003963966 RCV003964070 RCV003969248 RCV003926801 RCV003931980 RCV003932042 RCV003956797 RCV003968956 RCV003932775 RCV003932039 RCV003980356 RCV003918635 |
| Thyroid cancer, nonmedullary, 1 |
Uncertain significance |
rs2519241593, rs782476625, rs146961756 |
RCV005929878 RCV005927089 RCV005939198 |
|