ClinVar for Gene (Select 126) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3272949	NM_000669.5(ADH1C):c.353G>C (p.Gly118Ala)	ADH1C (G118A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3272943	NM_000669.5(ADH1C):c.622G>A (p.Val208Ile)	ADH1C (V208I)	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 3062772	GRCh37/hg19 4q23-25(chr4:100172302-107880077)x1	ADH1A, ADH1B +34 more	Copy number loss	not specified	GPathogenic
Select item 3062757	GRCh37/hg19 4q23-24(chr4:99355670-107274288)x1	ADH1A, ADH1B +39 more	Copy number loss	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
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 2654966	NM_000669.5(ADH1C):c.678C>T (p.Asn226=)	ADH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2654965	NM_000669.5(ADH1C):c.828+6A>T	ADH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2654964	NM_000669.5(ADH1C):c.828+7T>A	ADH1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
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 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 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 2427353	NC_000004.11:g.(?_100239320)_(100528137_?)del	ADH1B, ADH1C +4 more	Deletion	not provided	GPathogenic
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 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 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 2301596	NM_000669.5(ADH1C):c.50A>C (p.Glu17Ala)	ADH1C (E17A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 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 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 1477317	NC_000004.11:g.(?_100239320)_(100544005_?)dup	ADH1B, ADH1C +4 more	Duplication	not provided	GUncertain significance
Select item 1340302	GRCh37/hg19 4q22.3-25(chr4:95490755-109977216)x3	ADH1A, ADH1B +55 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 980109	GRCh37/hg19 4q22.2-24(chr4:94692345-101308220)x1	RAP1GDS1, UNC5C +26 more	Copy number loss	not provided	GLikely pathogenic
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 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 730985	NM_000669.5(ADH1C):c.423C>T (p.Phe141=)	ADH1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 709733	NM_000669.5(ADH1C):c.143G>A (p.Arg48His)	ADH1C (R48H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688691	GRCh37/hg19 4q23(chr4:100224894-100482676)x3	ADH1B, ADH1C +3 more	Copy number gain	not provided	GUncertain significance
Select item 688689	GRCh37/hg19 4q23(chr4:100224894-100482676)x3	ADH1B, ADH1C +3 more	Copy number gain	not provided	GUncertain significance
Select item 686973	GRCh37/hg19 4q23(chr4:100239111-100509321)x3	ADH1B, ADH1C +4 more	Copy number gain	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443286	GRCh37/hg19 4q22.1-24(chr4:92201567-103043808)x1	ADH1A, ADH1B +30 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 402344	NM_000669.5(ADH1C):c.232= (p.Gly78=)	ADH1C	Single nucleotide variant (no sequence alteration +1 more)	not specified +1 more	GBenign
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	ADH1A, ADH1B +123 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
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 18180	NM_000669.5(ADH1C):c.1048A>G (p.Ile350Val)	ADH1C (I350V)	Single nucleotide variant (missense variant +1 more)	Alcohol dependence	Gprotective
Select item 18179	NM_000669.5(ADH1C):c.815G>A (p.Arg272Gln)	ADH1C (R272Q)	Single nucleotide variant (missense variant)	Alcohol dependence	Gprotective

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 51