"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663913	NM_001170629.2(CHD8):c.5488C>T (p.Arg1830Cys)	CHD8, SNORD8 +1 more (R1551C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GConflicting classifications of pathogenicity
Select item 987389	NM_001170629.2(CHD8):c.5389C>T (p.Arg1797Ter)	CHD8 (R1518* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 973313	NM_001170629.2(CHD8):c.4871G>A (p.Trp1624Ter)	CHD8 (W1624* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 987154	NM_001170629.2(CHD8):c.3638del (p.Gly1213fs)	CHD8 (G1213fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987310	NM_001170629.2(CHD8):c.2486+1G>A	CHD8	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 986872	NM_001170629.2(CHD8):c.1540G>T (p.Glu514Ter)	CHD8 (E235* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987082	NM_001170629.2(CHD8):c.1351A>T (p.Arg451Ter)	CHD8 (R172* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

ClinVar