"Centogene AG - the Rare Disease Company"[submitter] AND "CHD8"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 39629	NM_001170629.2(CHD8):c.3712C>T (p.Gln1238Ter)	CHD8 (Q1238* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 1333799	NM_001170629.2(CHD8):c.2650A>G (p.Met884Val)	CHD8 (M605V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 1333798	NM_001170629.2(CHD8):c.2226+3G>T	CHD8	Single nucleotide variant (intron variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1333797	NM_001170629.2(CHD8):c.1478G>A (p.Arg493Gln)	CHD8 (R214Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1309304	NM_001170629.2(CHD8):c.1351A>G (p.Arg451Gly)	CHD8 (R172G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333801	NM_001170629.2(CHD8):c.635G>A (p.Arg212Gln)	CHD8 (R212Q)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1333800	NM_001170629.2(CHD8):c.314C>T (p.Pro105Leu)	CHD8 (P105L)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance