ClinVar Miner

List of variants in gene combination ADAM28, ADAM7, ADAMDEC1, ASAH1, 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, LOC101929066, 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 reported as pathogenic for Autistic disorder of childhood onset; Micrognathia; Low-set ears; Delayed speech and language development; Narrow forehead; Wide nasal bridge; Intellectual disability, mild; Delayed fine motor development

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Gene type:
ClinVar version:
Total variants: 1
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GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329)

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