C3552553[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028059	NM_017780.4(CHD7):c.5C>A (p.Ala2Glu)	CHD7 (A2E)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GLikely pathogenic
Select item 1032765	NM_017780.4(CHD7):c.519del (p.Pro174fs)	CHD7 (P174fs)	Deletion (frameshift variant)	CHARGE association +1 more	GPathogenic
Select item 1028056	NM_017780.4(CHD7):c.2499-20A>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 267424	NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)	CHD7 (I1081F)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1028057	NM_017780.4(CHD7):c.4847A>G (p.Tyr1616Cys)	CHD7 (Y1616C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 195978	NM_017780.4(CHD7):c.5405-17G>A	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GPathogenic/Likely pathogenic
Select item 488680	NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter)	CHD7 (Q1990*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic

ClinVar