ADH5[gene] - ClinVar

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Items: 39

	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 3272990	NM_000671.4(ADH5):c.1102A>G (p.Ile368Val)	ADH5 (I368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257614	NM_000671.4(ADH5):c.1037T>A (p.Val346Glu)	ADH5 (V346E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995825	NM_000671.4(ADH5):c.966del (p.Gly321_Trp322insTer)	ADH5	Deletion (nonsense)	AMED syndrome, digenic	GPathogenic
Select item 2553200	NM_000671.4(ADH5):c.950C>A (p.Thr317Asn)	ADH5 (T317N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065836	NM_000671.4(ADH5):c.938_943del (p.Thr313_Trp314del)	ADH5	Deletion (inframe_deletion)	AMED syndrome, digenic	GUncertain significance
Select item 2545071	NM_000671.4(ADH5):c.916T>C (p.Phe306Leu)	ADH5 (F306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511029	NM_000671.4(ADH5):c.880G>A (p.Val294Ile)	ADH5 (V294I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995827	NM_000671.4(ADH5):c.832G>C (p.Ala278Pro)	ADH5	Single nucleotide variant (missense variant)	AMED syndrome, digenic	GPathogenic
Select item 2654962	NM_000671.4(ADH5):c.826-8G>T	ADH5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2323718	NM_000671.4(ADH5):c.753G>C (p.Gln251His)	ADH5 (Q251H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089068	NM_000671.4(ADH5):c.719G>A (p.Cys240Tyr)	ADH5 (C240Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272985	NM_000671.4(ADH5):c.667G>A (p.Asp223Asn)	ADH5 (D223N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089065	NM_000671.4(ADH5):c.653G>T (p.Arg218Leu)	ADH5 (R218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 995826	NM_000671.4(ADH5):c.564+1G>A	ADH5	Single nucleotide variant (splice donor variant)	AMED syndrome, digenic	GPathogenic
Select item 2494532	NM_000671.4(ADH5):c.556A>G (p.Thr186Ala)	ADH5 (T186A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231105	NM_000671.4(ADH5):c.464T>C (p.Ile155Thr)	ADH5 (I155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385301	NM_000671.4(ADH5):c.421A>G (p.Met141Val)	ADH5 (M141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251334	NM_000671.4(ADH5):c.392C>A (p.Thr131Asn)	ADH5 (T131N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507689	NM_000671.4(ADH5):c.178T>G (p.Cys60Gly)	ADH5 (C60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357812	NM_000671.4(ADH5):c.107G>A (p.Arg36Gln)	ADH5 (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533081	NM_000671.4(ADH5):c.64A>G (p.Ile22Val)	ADH5 (I22V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1722970	NM_000671.4(ADH5):c.9C>G (p.Asn3Lys)	ADH5 (N3K)	Single nucleotide variant (missense variant)	not provided	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 1808609	GRCh37/hg19 4q23(chr4:99918661-100046008)x1	ADH4, ADH5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1527113	GRCh37/hg19 4q23(chr4:99835828-100089147)	ADH4, ADH5 +2 more	Copy number loss	not specified	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 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: 39