ADH1C[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2654963	NM_000669.5(ADH1C):c.1113C>T (p.Thr371=)	ADH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2664885	NM_000669.5(ADH1C):c.1066A>G (p.Ile356Val)	ADH1C (I356V)	Single nucleotide variant (missense variant +1 more)	Parkinson disease, late-onset	GUncertain significance
Select item 778860	NM_000669.5(ADH1C):c.1054C>A (p.Pro352Thr)	ADH1C (P352T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 18180	NM_000669.5(ADH1C):c.1048A>G (p.Ile350Val)	ADH1C (I350V)	Single nucleotide variant (missense variant +1 more)	Alcohol dependence	Gprotective
Select item 2209605	NM_000669.5(ADH1C):c.938G>A (p.Arg313His)	ADH1C (R313H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277839	NM_000669.5(ADH1C):c.883G>C (p.Val295Leu)	ADH1C (V295L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267997	NM_000669.5(ADH1C):c.874A>T (p.Ile292Phe)	ADH1C (I292F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479648	NM_000669.5(ADH1C):c.839T>G (p.Leu280Arg)	ADH1C (L280R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654964	NM_000669.5(ADH1C):c.828+7T>A	ADH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654965	NM_000669.5(ADH1C):c.828+6A>T	ADH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 18179	NM_000669.5(ADH1C):c.815G>A (p.Arg272Gln)	ADH1C (R272Q)	Single nucleotide variant (missense variant)	Alcohol dependence	Gprotective
Select item 2654966	NM_000669.5(ADH1C):c.678C>T (p.Asn226=)	ADH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2219134	NM_000669.5(ADH1C):c.623T>C (p.Val208Ala)	ADH1C (V208A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2283917	NM_000669.5(ADH1C):c.556A>G (p.Lys186Glu)	ADH1C (K186E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 776589	NM_000669.5(ADH1C):c.522C>T (p.Gly174=)	ADH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2481751	NM_000669.5(ADH1C):c.491C>T (p.Ala164Val)	ADH1C (A164V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088929	NM_000669.5(ADH1C):c.436A>T (p.Thr146Ser)	ADH1C (T146S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716191	NM_000669.5(ADH1C):c.429C>T (p.Gly143=)	ADH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 730985	NM_000669.5(ADH1C):c.423C>T (p.Phe141=)	ADH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2330567	NM_000669.5(ADH1C):c.371T>C (p.Leu124Pro)	ADH1C (L124P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337934	NM_000669.5(ADH1C):c.359C>G (p.Pro120Arg)	ADH1C (P120R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402344	NM_000669.5(ADH1C):c.232= (p.Gly78=)	ADH1C	Single nucleotide variant (no sequence alteration +1 more)	not specified	GBenign
Select item 18181	NM_000669.5(ADH1C):c.232G>T (p.Gly78Ter)	ADH1C (G78*)	Single nucleotide variant (nonsense +1 more)	Parkinson disease, mitochondrial	Grisk factor
Select item 2589003	NM_000669.5(ADH1C):c.217A>G (p.Ile73Val)	ADH1C (I73V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458075	NM_000669.5(ADH1C):c.191T>C (p.Val64Ala)	ADH1C (V64A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2325316	NM_000669.5(ADH1C):c.155A>T (p.His52Leu)	ADH1C (H52L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709733	NM_000669.5(ADH1C):c.143G>A (p.Arg48His)	ADH1C (R48H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2301596	NM_000669.5(ADH1C):c.50A>C (p.Glu17Ala)	ADH1C (E17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 28