"Department of Genetics, Rouen University Hospital, Normandy Center fo - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429995	NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)	CHD8 (D2270del +1 more)	Microsatellite (inframe_deletion)	Autism spectrum disorder	GLikely benign
Select item 2429994	NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)	CHD8 (H2224P +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 1343110	NM_001170629.2(CHD8):c.4310G>A (p.Arg1437His)	CHD8 (R1158H +1 more)	Single nucleotide variant (missense variant)	Developmental disorder	GUncertain significance
Select item 2429996	NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)	CHD8 (E1082* +1 more)	Single nucleotide variant (nonsense)	Developmental disorder	GLikely pathogenic
Select item 2430094	NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)	CHD8 (Q1171* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 2430093	NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)	CHD8 (L701fs +1 more)	Indel (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2429993	NM_001170629.2(CHD8):c.2365-10T>G	CHD8	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely benign
Select item 2430092	NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)	CHD8 (K249fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2920694	NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)	CHD8 (Q131* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic