ADH5[gene] - ClinVar

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

Search results

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	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +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 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 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	ARHGEF38, ARL9 +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)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36