"MGZ Medical Genetics Center"[submitter] AND "CHD7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709604	NM_017780.4(CHD7):c.2377G>T (p.Glu793Ter)	CHD7 (E793*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 620086	NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)	CHD7 (R858*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1314967	NM_017780.4(CHD7):c.2900A>T (p.Lys967Ile)	CHD7 (K967I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1710005	NM_017780.4(CHD7):c.4409G>A (p.Gly1470Asp)	CHD7 (G1470D)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 1709132	NM_017780.4(CHD7):c.5935T>C (p.Ser1979Pro)	CHD7 (S1979P)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 1709788	NM_017780.4(CHD7):c.6236del (p.Lys2079fs)	CHD7 (K2079fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 1709660	NM_017780.4(CHD7):c.7604G>A (p.Ser2535Asn)	CHD7 (S2535N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 1709028	NM_017780.4(CHD7):c.8182G>A (p.Ala2728Thr)	CHD7 (A2728T +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance

ClinVar