| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Adrenocortical carcinoma, hereditary |
Uncertain significance |
rs201987227 |
RCV005934776 |
| Aplasia/Hypoplasia of the phalanges of the 4th toe |
not provided |
rs190907175 |
RCV002463837 |
| Cervical cancer |
Benign |
rs75415082, rs113452769 |
RCV005907313 RCV005903605 |
| DIP2C-associated disorder |
Conflicting classifications of pathogenicity |
rs1954570162 |
RCV005622065 |
| DIP2C-related disorder |
Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance |
rs4881274, rs768099475, rs77328768, rs146207311, rs150975809, rs2288681, rs147311405, rs200354695, rs10904083, rs143857501, rs757666221, rs533136772, rs6560837, rs4880611, rs559996108, rs151164098, rs3740304, rs201616323, rs199841295, rs148545889, rs140375826, rs200561296, rs755155831, rs2541158841, rs1564499793, rs1966309744, rs371940286, rs774357371, rs374957162, rs199725116, rs2540222565, rs781439681, rs112940959, rs75415082, rs141856119 View all (20 more) |
RCV003980843 RCV003968660 RCV003948762 RCV003958781 RCV003948889 RCV003973337 RCV003913673 RCV003958538 RCV003978856 RCV003933382 RCV003978905 RCV003923465 RCV003978528 RCV003978529 RCV003968769 RCV003933395 RCV003978686 RCV003923654 RCV003911179 RCV003941280 RCV003923787 RCV003933421 RCV003936288 RCV003402249 RCV003399940 RCV003404488 RCV003909016 RCV003909752 RCV003961544 RCV003937163 RCV003954743 RCV003932055 RCV003903206 RCV003920488 RCV003912830 |
| Familial cancer of breast |
Benign |
rs139751623 |
RCV005927825 |
| Gastric cancer |
Uncertain significance; Benign |
rs543656258, rs75415082 |
RCV005924311 RCV005907315 |
| Lung cancer |
Likely benign; Benign |
rs41288735, rs139751623 |
RCV005921129 RCV005927827 |
| Malignant tumor of esophagus |
Benign |
rs75415082 |
RCV005907312 |
| Neurodevelopmental delay |
Uncertain significance |
rs965093390 |
RCV001253273 |
| Neurodevelopmental disorder |
Uncertain significance |
rs766542518, rs2132443689, rs779890829, rs2540673729 |
RCV001780059 RCV001780060 RCV001780061 RCV003389202 |
| Obesity |
Uncertain significance |
rs965093390 |
RCV001253273 |
| Ovarian serous cystadenocarcinoma |
Benign |
rs113452769 |
RCV005903606 |
| Sarcoma |
Benign |
rs139751623, rs75415082 |
RCV005927826 RCV005907314 |
| See cases |
Uncertain significance |
rs2132167956, rs771770814 |
RCV005255502 RCV002253089 |
| Streaky metaphyseal sclerosis |
not provided |
rs190907175 |
RCV002463837 |
|