C0265354[trait identifier] AND "Broad Center for Mendelian Genomics, B - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2500922	NM_017780.4(CHD7):c.3431del (p.Leu1144fs)	CHD7 (L1144fs)	Deletion (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 592245	NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)	CHD7 (R1339*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 95795	NM_017780.4(CHD7):c.5405-7G>A	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GPathogenic
Select item 267435	NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)	CHD7 (R2027*)	Single nucleotide variant (nonsense +1 more)	CHARGE association +1 more	GPathogenic
Select item 930111	NM_017780.4(CHD7):c.7276del (p.Gln2426fs)	CHD7 (Q2426fs)	Deletion (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 95813	NM_017780.4(CHD7):c.7463G>A (p.Gly2488Asp)	CHD7 (G2488D)	Single nucleotide variant (missense variant +1 more)	CHARGE association +3 more	GConflicting classifications of pathogenicity

ClinVar