| - GRCh37:
- Chr10:112661299
- GRCh38:
- Chr10:110901541
| BBIP1 | A89V, Q37*, Q15* | Flat nasal alae, Downslanted palpebral fissures, Hypogonadotropic hypogonadism 7 with or without anosmia,
Narrow forehead, Round face, Specific learning disability,
Obesity, Micropenis, Postaxial hand polydactyly,
Rod-cone dystrophy | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr8:194617-6816918
| AGPAT5, ANGPT2, ARHGEF10, CLN8, CSMD1, DEFA4, DEFA6, DEFB1, DLGAP2, ERICH1, FBXO25, KBTBD11, MCPH1, MYOM2, TDRP, XKR5, ZNF596 | | Intellectual disability, mild, Autism, Delayed fine motor development,
Narrow forehead, Wide nasal bridge, Delayed speech and language development,
Micrognathia, Low-set ears | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr8:12580104-25947329
| ADAM28, ADAM7, ADAMDEC1, ASAH1, ASAH1-AS1, ATP6V1B2, BIN3, BMP1, C8orf48, C8orf58, CCAR2, CDCA2, CHMP7, CNOT7, CSGALNACT1, DLC1, DMTN, DOCK5, DOK2, EBF2, EGR3, ENTPD4, FGF17, FGF20, FGL1, FHIP2B, GFRA2, GNRH1, HR, INTS10, KCTD9, LGI3, LONRF1, LOXL2, LPL, LZTS1, MICU3, MIR320A, MSR1, MTMR7, MTUS1, NAT1, NAT2, NEFL, NEFM, NKX2-6, NKX3-1, NPM2, NUDT18, PCM1, PDGFRL, PDLIM2, PEBP4, PHYHIP, PIWIL2, POLR3D, PPP3CC, PSD3, R3HCC1, REEP4, RHOBTB2, SFTPC, SGCZ, SH2D4A, SLC18A1, SLC25A37, SLC39A14, SLC7A2, SORBS3, STC1, TNFRSF10A, TNFRSF10B, TNFRSF10C, TNFRSF10D, TRMT9B, TUSC3, VPS37A, XPO7, ZDHHC2 | | Intellectual disability, mild, Autism, Delayed fine motor development,
Narrow forehead, Wide nasal bridge, Delayed speech and language development,
Micrognathia, Low-set ears | Pathogenic
(Jan 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:123276877
- GRCh38:
- Chr10:121517363
| FGFR2 | S347C, S258C, S232C, S119C | Hypointensity of cerebral white matter on MRI, Low-set ears, Abnormal posterior cranial fossa morphology,
Shallow orbits, Abnormal pinna morphology, Downslanted palpebral fissures,
Hydrocephalus, Hypertelorism, Wide anterior fontanel,
Facial asymmetry, High foreheadChoanal stenosis,
Cranial asymmetry, High palate, Mild fetal ventriculomegaly,
Deviated nasal septum, Brachyturricephaly, Lateral ventricle dilatation,
Short neck, Abnormal zygomatic bone morphology, Flat occiput,
Narrow forehead, not provided, Craniofacial dysostosis,
Pfeiffer syndrome, FGFR2-related craniosynostosis, ...see more | Pathogenic/Likely pathogenic
(Apr 6, 2023) | criteria provided, multiple submitters, no conflicts |