| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| ARHGEF6-associated Neurodevelopmental disorder |
Uncertain significance |
rs375084147 |
RCV002275049 |
| ARHGEF6-related disorder |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs35106300, rs138342895, rs12008084, rs75329154, rs2522148728, rs2522424517, rs766570806, rs762641850, rs140322310, rs145081421, rs140378313, rs770180249 |
RCV003952564 RCV003952565 RCV003905111 RCV003927762 RCV003427810 RCV003410608 RCV003931686 RCV003962063 RCV003902448 RCV003960148 RCV003943008 RCV003413787 |
| Familial cancer of breast |
Benign; Likely benign |
rs140322310 |
RCV005900606 |
| Genetic developmental and epileptic encephalopathy |
Benign; Likely benign |
rs35106300 |
RCV005621878 |
| History of neurodevelopmental disorder |
Conflicting classifications of pathogenicity |
rs147131853 |
RCV000721042 |
| Intellectual disability |
Benign; Likely benign |
rs35106300, rs757760891 |
RCV005621877 RCV001251679 |
| Intellectual disability, X-linked 46 |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs1426557239, rs2076312974, rs35106300, rs147131853, rs140322310, rs375084147 |
RCV001329326 RCV001329325 RCV000609668 RCV000990954 RCV002221232 RCV000990953 |
| Non-syndromic X-linked intellectual disability |
Conflicting classifications of pathogenicity; Uncertain significance; Likely benign |
rs75329154, rs968152666, rs751450350, rs757215282, rs770569536, rs775186031, rs1057515778 |
RCV000263759 RCV000344658 RCV000327777 RCV000289652 RCV000348922 RCV000310001 RCV000364644 |
| See cases |
Uncertain significance |
rs761576293 |
RCV001197148 |
| Thyroid cancer, nonmedullary, 1 |
Benign |
rs148319648 |
RCV005906552 |
| Uveal melanoma |
Benign; Likely benign |
rs140322310 |
RCV005900607 |
| Vanishing white matter disease |
Uncertain significance |
rs2076230593 |
RCV001253004 |