ADH1A[gene] - ClinVar

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Items: 34

	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 2331714	NM_000667.4(ADH1A):c.1010T>C (p.Met337Thr)	ADH1A, LOC100507053 (M337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770906	NM_000667.4(ADH1A):c.964+6T>C	ADH1A, LOC100507053	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2240747	NM_000667.4(ADH1A):c.923T>C (p.Leu308Pro)	ADH1A, LOC100507053 (L308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249573	NM_000667.4(ADH1A):c.893A>G (p.Asp298Gly)	ADH1A, LOC100507053 (D298G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088837	NM_000667.4(ADH1A):c.890C>A (p.Pro297His)	ADH1A, LOC100507053 (P297H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288668	NM_000667.4(ADH1A):c.883G>T (p.Val295Leu)	ADH1A, LOC100507053 (V295L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361425	NM_000667.4(ADH1A):c.796T>A (p.Ser266Thr)	ADH1A, LOC100507053 (S266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088830	NM_000667.4(ADH1A):c.553G>C (p.Val185Leu)	ADH1A, LOC100507053 (V185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527329	NM_000667.4(ADH1A):c.520G>C (p.Gly174Arg)	ADH1A, LOC100507053 (G174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088825	NM_000667.4(ADH1A):c.467A>G (p.Asn156Ser)	ADH1A, LOC100507053 (N156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521051	NM_000667.4(ADH1A):c.407A>C (p.Lys136Thr)	ADH1A, LOC100507053 (K136T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326990	NM_000667.4(ADH1A):c.368C>A (p.Thr123Asn)	ADH1A, LOC100507053 (T123N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618342	NM_000667.4(ADH1A):c.320C>T (p.Pro107Leu)	ADH1A, LOC100507053 (P107L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272902	NM_000667.4(ADH1A):c.245C>T (p.Thr82Ile)	ADH1A, LOC100507053 +1 more (T82I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2206376	NM_000667.4(ADH1A):c.214G>A (p.Gly72Ser)	ADH1A, LOC100507053 +1 more (G72S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3272893	NM_000667.4(ADH1A):c.163A>G (p.Ser55Gly)	ADH1A, LOC100507053 +1 more (S55G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2593284	NM_000667.4(ADH1A):c.150T>A (p.Asp50Glu)	ADH1A, LOC100507053 +1 more (D50E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3088809	NM_000667.4(ADH1A):c.113G>A (p.Arg38His)	ADH1A, LOC100507053 (R38H)	Single nucleotide variant (missense variant)	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	CAMK2D, GIMD1 +537 more	Copy number gain	not provided	GPathogenic
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 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: 34