"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344751	NM_017780.4(CHD7):c.732C>G (p.Ser244Arg)	CHD7 (S244R)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 581160	NM_017780.4(CHD7):c.1375C>T (p.Arg459Cys)	CHD7 (R459C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 588393	NM_017780.4(CHD7):c.2182G>C (p.Asp728His)	CHD7 (D728H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1344753	NM_017780.4(CHD7):c.5114C>A (p.Pro1705Gln)	CHD7 (P1705Q)	Single nucleotide variant (missense variant +1 more)	Amenorrhea	GUncertain significance
Select item 529141	NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp)	CHD7 (R1942W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158317	NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)	CHD7 (M2527L)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign

ClinVar