"Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064774	NM_001170629.2(CHD8):c.7112dup (p.Asn2371fs)	CHD8 (N2092fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 2627837	NM_001170629.2(CHD8):c.5856_5863dup (p.Phe1955fs)	CHD8 (F1676fs +1 more)	Duplication (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 545056	NM_001170629.2(CHD8):c.4468_4469insA (p.Cys1490Ter)	CHD8 (C1211* +1 more)	Insertion (nonsense)	not provided	GPathogenic
Select item 916099	NM_001170629.2(CHD8):c.4115del (p.Asn1372fs)	CHD8 (N1093fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 437423	NM_001170629.2(CHD8):c.3724C>T (p.Arg1242Ter)	CHD8 (R963* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 916093	NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter)	CHD8 (R1188* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1321936	NM_001170629.2(CHD8):c.2364+1G>C	CHD8	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GLikely pathogenic

ClinVar