251[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	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 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 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 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 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 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 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 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
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 2427353	NC_000004.11:g.(?_100239320)_(100528137_?)del	ADH1B, ADH1C +4 more	Deletion	not provided	GPathogenic
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 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 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 51