"Center of Genomic medicine, Geneva, University Hospital of Geneva"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627553	NM_017780.4(CHD7):c.3523-19A>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely pathogenic
Select item 226115	NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter)	CHD7 (R2098*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome +2 more	GPathogenic
Select item 523619	NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter)	CHD7 (R2428*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome +1 more	GPathogenic

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