ADH6[gene] - ClinVar

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Items: 36

	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 3273011	NM_001102470.2(ADH6):c.1081G>A (p.Glu361Lys)	ADH6, LOC100507053 (E361K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089091	NM_001102470.2(ADH6):c.1079T>C (p.Val360Ala)	ADH6, LOC100507053 (V360A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089088	NM_001102470.2(ADH6):c.1076C>G (p.Ala359Gly)	ADH6, LOC100507053 (A359G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599871	NM_001102470.2(ADH6):c.1054A>T (p.Asn352Tyr)	ADH6, LOC100507053 (N352Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218691	NM_001102470.2(ADH6):c.1010T>C (p.Met337Thr)	ADH6, LOC100507053 (M337T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478023	NM_001102470.2(ADH6):c.982C>T (p.His328Tyr)	ADH6, LOC100507053 (H328Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564124	NM_001102470.2(ADH6):c.937C>T (p.Arg313Cys)	ADH6, LOC100507053 (R313C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388508	NM_001102470.2(ADH6):c.841G>A (p.Ala281Thr)	ADH6, LOC100507053 (A281T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273032	NM_001102470.2(ADH6):c.818T>C (p.Leu273Pro)	ADH6, LOC100507053 (L273P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3089130	NM_001102470.2(ADH6):c.814A>C (p.Asn272His)	ADH6, LOC100507053 (N272H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488566	NM_001102470.2(ADH6):c.700C>A (p.Gln234Lys)	ADH6, LOC100507053 (Q234K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2315442	NM_001102470.2(ADH6):c.649G>A (p.Ala217Thr)	ADH6, LOC100507053 (A217T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089113	NM_001102470.2(ADH6):c.466A>G (p.Ile156Val)	ADH6, LOC100507053 (I156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262599	NM_001102470.2(ADH6):c.328G>A (p.Gly110Ser)	ADH6, LOC100507053 (G110S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314698	NM_001102470.2(ADH6):c.275T>C (p.Ile92Thr)	ADH6, LOC100507053 (I92T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089104	NM_001102470.2(ADH6):c.265G>A (p.Asp89Asn)	ADH6, LOC100507053 (D89N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273001	NM_001102470.2(ADH6):c.233T>C (p.Ile78Thr)	ADH6, LOC100507053 (I78T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241964	NM_001102470.2(ADH6):c.217G>A (p.Gly73Arg)	ADH6, LOC100507053 (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300138	NM_001102470.2(ADH6):c.64T>C (p.Phe22Leu)	ADH6, LOC100507053 (F22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273022	NM_001102470.2(ADH6):c.58G>A (p.Ala20Thr)	ADH6, LOC100507053 (A20T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089096	NM_001102470.2(ADH6):c.19G>T (p.Val7Phe)	ADH6, LOC100507053 (V7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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: 36