| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal dominant non-syndromic intellectual disability |
Likely pathogenic |
rs2482324124 |
RCV004577411 |
| Intellectual developmental disorder, autosomal dominant 64 |
Likely pathogenic; Pathogenic |
rs2127862686, rs2127871142, rs2127864363, rs2127867444, rs2127870787, rs867732475, rs764995318, rs2127871067, rs2127872112, rs1775506324, rs1253246966, rs2482313661, rs2482327974, rs2482358615, rs2482346171, rs2482299481, rs2482336212, rs2482341145, rs1770500301, rs2482295209, rs2482287354, rs2482314736, rs2482339428, rs2482349746, rs2482290757, rs1135401779, rs865909396, rs1301328139, rs1775194783, rs1775264625, rs1775285095, rs1775334064, rs1775468280 View all (18 more) |
RCV003151863 RCV001775314 RCV001775419 RCV001806689 RCV001807990 RCV001813899 RCV005053987 RCV002244190 RCV002272811 RCV002287606 RCV004771520 RCV002465379 RCV002471295 RCV002471768 RCV003127381 RCV003140493 RCV003149126 RCV003223511 RCV003314278 RCV003322654 RCV003330358 RCV003388972 RCV003596257 RCV003993714 RCV006249912 RCV004595278 RCV001292572 RCV001292569 RCV001292573 RCV001292570 RCV004762032 RCV001292574 RCV001292571 RCV001810008 |
| Intellectual disability |
Likely pathogenic; Pathogenic |
rs764995318, rs1135401779, rs865909396, rs1775154516, rs1775236367, rs1301328139 |
RCV001815148 RCV000496170 RCV001260783 RCV001260789 RCV001260830 RCV001260794 |
| Microcephaly |
Likely pathogenic; Pathogenic |
rs1775264625 |
RCV001290249 |
| Mild intellectual disability |
Likely pathogenic; Pathogenic |
rs1775264625 |
RCV001290249 |
| Motor delay |
Likely pathogenic |
rs2127862686 |
RCV001526603 |
| Neurodevelopmental delay |
Pathogenic |
rs2127859550 |
RCV002274393 |
| Neurodevelopmental disorder |
Pathogenic; Likely pathogenic |
rs2127867376, rs1135401779, rs1554208945, rs865909396, rs1775236367, rs1301328139, rs1772907934, rs1775120706, rs1775143865, rs1775161294, rs1775179321, rs1775194783, rs1775218146, rs1775264625, rs1775284293, rs1775285095, rs772762833, rs1775334064, rs1775368255, rs1280838951, rs1775403177, rs1775415071, rs1775442122, rs764995318, rs1775468280, rs866467799, rs377387515 View all (12 more) |
RCV001374995 RCV001261701 RCV001261762 RCV001261693 RCV001261760 RCV001261752 RCV001261694 RCV001261695 RCV001261697 RCV001261758 RCV001261698 RCV001261699 RCV001261700 RCV001261702 RCV001261703 RCV001261704 RCV001261705 RCV001261706 RCV001261707 RCV001261708 RCV001261761 RCV001261709 RCV001261710 RCV001261751 RCV001261753 RCV001261754 RCV001261755 |
| Short stature |
Likely pathogenic; Pathogenic |
rs1775264625 |
RCV001290249 |
| ZNF292-related disorder |
Likely pathogenic; Pathogenic |
rs764995318, rs2482353470, rs1775229041, rs1775161294 |
RCV004741084 RCV003402532 RCV003919462 RCV003416137 |
| ZNF292-related neurodevelopmental condition |
Likely pathogenic |
rs1554208945 |
RCV000626040 |
|