| - GRCh38:
- Chr18:69541066-80373285
| LOC126862800, LOC126862801, LOC126862802, LOC126862803, LOC126862804, LOC126862805, LOC126862806, LOC126862807, LOC126862808, LOC126862809, LOC126862810, LOC126862811, LOC126862812, LOC126862813, LOC126862814, LOC126862815, LOC126862816, LOC126862817, LOC126862818, LOC126862819, LOC126862820, LOC126862821, LOC126862822, LOC126862823, LOC126862824, LOC126862825, LOC126862826, LOC126862827, LOC126862828, LOC126862829, LOC126862830, LOC126862831, LOC126862832, LOC126862833, LOC126862834, LOC284240, LOC339298, MBP, MIR548AV, NETO1, NETO1-DT, NFATC1, PARD6G, PARD6G-AS1, PTGR3, RBFA, RBFADN, RTTN, SALL3, SLC66A2, SMIM21, SOCS6, TIMM21, TSHZ1, TXNL4A, ZNF236, ZNF236-DT, ZNF407, ZNF407-AS1, ZNF516, ZNF516-AS1, ZNF516-DT, ADNP2, ATP9B, C18orf63, CBLN2, CD226, CNDP1, CNDP2, CTDP1, CTDP1-DT, CYB5A, DIPK1C, DOK6, FBXO15, GALR1, GTSCR1, HSBP1L1, KCNG2, LINC00683, LINC00908, LINC01029, LINC01541, LINC01879, LINC01893, LINC01896, LINC01898, LINC01899, LINC01909, LINC01910, LINC01922, LINC01927, LINC02582, LINC02864, LIVAR, LOC107992389, LOC110120868, LOC110120915, LOC110120931, LOC110120935, LOC110121312, LOC110121314, LOC110121318, LOC110121330, LOC112543433, LOC116276492, LOC121627836, LOC121627838, LOC121627839, LOC121627840, LOC121627841, LOC121852970, LOC124904333, LOC125371438, LOC125371439, LOC125371440, LOC125371441, LOC125371442, LOC125371443, LOC126862784, LOC126862785, LOC126862786, LOC126862787, LOC126862788, LOC126862789, LOC126862790, LOC126862791, LOC126862792, LOC126862793, LOC126862794, LOC126862795, LOC126862796, LOC126862797, LOC126862798, LOC126862799 | | Microcephaly, Parietal foramina, Pulmonary valve stenosis,
Proportionate short stature, Short stature, Failure to thrive,
Scoliosis, Intellectual disability, Nystagmus,
Gray matter heterotopia, Intellectual disability, severe ...see more | Pathogenic
(Apr 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:115910972
- GRCh38:
- Chr10:114151213
| CCDC186 | S256* | Seizure, Failure to thrive, Pulmonary valve stenosis,
EEG with spike-wave complexes, Severe global developmental delay, Hypothyroidism,
Relative macrocephaly, Growth delay, Developmental stagnation,
Microcephaly | Pathogenic
(Mar 23, 2021) | criteria provided, single submitter |