C0265354[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375575	NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter)	CHD7 (Q518*)	Single nucleotide variant (nonsense)	CHARGE association	GPathogenic
Select item 559419	NM_017780.4(CHD7):c.2910_2925del (p.Glu970_Tyr971insTer)	CHD7	Deletion (frameshift variant +1 more)	CHARGE association	GLikely pathogenic
Select item 998080	NM_017780.4(CHD7):c.3522+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE association	GPathogenic
Select item 403702	NM_017780.4(CHD7):c.4985del (p.Ser1662fs)	CHD7 (S1662fs)	Deletion (frameshift variant +1 more)	CHARGE association	GLikely pathogenic
Select item 1299708	NM_017780.4(CHD7):c.4989C>A (p.Phe1663Leu)	CHD7 (F1663L)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 403716	NM_017780.4(CHD7):c.6292del (p.Arg2098fs)	CHD7 (R2098fs)	Deletion (frameshift variant +1 more)	CHARGE association	GPathogenic

ClinVar