"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 981314	NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter)	CHD8 (R1555* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 981315	NM_001170629.2(CHD8):c.3524T>G (p.Leu1175Ter)	CHD8 (L1175* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 981313	NM_001170629.2(CHD8):c.2811del (p.Arg938fs)	CHD8 (R659fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic

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