"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95780	NM_017780.4(CHD7):c.277A>G (p.Thr93Ala)	CHD7 (T93A)	Single nucleotide variant (missense variant)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 195328	NM_017780.4(CHD7):c.1170T>C (p.Tyr390=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 260891	NM_017780.4(CHD7):c.1397C>T (p.Ser466Leu)	CHD7 (S466L)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GConflicting classifications of pathogenicity
Select item 1016073	NM_017780.4(CHD7):c.1813C>G (p.His605Asp)	CHD7, LOC126860403 (H605D)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 95776	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	CHD7, LOC126860403	Duplication	not specified +4 more	GBenign/Likely benign
Select item 158282	NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser)	CHD7 (G744S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 690306	NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)	CHD7 (C1101R)	Single nucleotide variant (missense variant +1 more)	CHARGE association +1 more	GPathogenic
Select item 1174939	NM_017780.4(CHD7):c.4353+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 158311	NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr)	CHD7 (A2160T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 158317	NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)	CHD7 (M2527L)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 158318	NM_017780.4(CHD7):c.7590A>G (p.Lys2530=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 197037	NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)	CHD7 (A2789V +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity