| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Congenital anomaly of kidney and urinary tract |
Pathogenic; Likely pathogenic |
rs1309291116, rs2140253640, rs2139748846, rs2140576563, rs2140726371, rs753611080, rs757669327, rs2139746476, rs2139949646, rs2139974502, rs2140253913, rs2140369057, rs2140884265, rs2140884891, rs2502236129 |
RCV001849535 RCV001849536 RCV001849537 RCV001849538 RCV001849539 RCV001849540 RCV001849572 RCV001849768 RCV001849769 RCV001849770 RCV001849771 RCV001849772 RCV001849773 RCV001849774 RCV002466933 |
| Neurodevelopmental abnormality |
Likely pathogenic |
rs765831882 |
RCV002244563 |
| Neurodevelopmental delay |
Likely pathogenic |
rs2140575082 |
RCV002274391 |
| Neurodevelopmental disorder |
Likely pathogenic; Pathogenic |
rs1299725201, rs2139974701, rs2139911544, rs2502237560 |
RCV002277712 RCV002277713 RCV002277714 RCV003389187 |
| Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities |
Pathogenic; Likely pathogenic |
rs1309291116, rs2140253640, rs2139748846, rs2140576563, rs2140726371, rs753611080, rs2141041750, rs757669327, rs2141042140, rs2140727029, rs2139911402, rs2140885139, rs2140777563, rs2503109144, rs746920956, rs2501893676, rs2502367984, rs2502371902, rs2503112149, rs1953476601, rs2502238593, rs2503890804, rs1247894077, rs2502241927, rs904779823 View all (10 more) |
RCV001667843 RCV001667844 RCV001667845 RCV001667846 RCV001667847 RCV001667848 RCV001775422 RCV001785280 RCV001814705 RCV001843743 RCV002251109 RCV002251281 RCV002272590 RCV002287300 RCV002289186 RCV002291434 RCV002468814 RCV002468815 RCV003128024 RCV003225873 RCV003236351 RCV003327347 RCV003387554 RCV004018044 RCV004586193 |
| Seizure |
Likely pathogenic |
rs765831882 |
RCV002244563 |
| ZMYM2-related disorder |
Likely pathogenic; Pathogenic |
rs2140727029, rs2504185954, rs2502241506, rs2501897755 |
RCV003892882 RCV003982745 RCV003892233 RCV003937367 |
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