C0265354[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1473535	NM_017780.4(CHD7):c.2377-1G>A	CHD7	Single nucleotide variant (splice acceptor variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 3027468	NM_017780.4(CHD7):c.3818del (p.His1273fs)	CHD7 (H1273fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic