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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 983058	NM_017780.4(CHD7):c.860C>T (p.Pro287Leu)	CHD7 (P287L)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3024539	NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr)	CHD7 (A1398T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 976043	NM_017780.4(CHD7):c.4787A>T (p.Asp1596Val)	CHD7 (D1596V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 982754	NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter)	CHD7 (W2091*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GPathogenic
Select item 2500730	NM_017780.4(CHD7):c.6371T>C (p.Phe2124Ser)	CHD7 (F2124S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 419586	NM_017780.4(CHD7):c.7297del (p.Val2433fs)	CHD7 (V2433fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome +1 more	GPathogenic
Select item 158321	NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)	CHD7 (R2653* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2580343	GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1	ASPH, CA8 +4 more	Copy number loss	CHARGE syndrome	GPathogenic

ClinVar