ADH4[gene] - ClinVar

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Items: 47

	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 3088966	NM_000670.5(ADH4):c.1124G>A (p.Arg375Gln)	ADH4, LOC100507053 (R375Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088964	NM_000670.5(ADH4):c.1073T>C (p.Phe358Ser)	ADH4, LOC100507053 (F358S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296682	NM_000670.5(ADH4):c.1042C>G (p.Leu348Val)	ADH4, LOC100507053 (L367V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089037	NM_000670.5(ADH4):c.953G>T (p.Arg318Leu)	ADH4, LOC100507053 (R318L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089031	NM_000670.5(ADH4):c.952C>T (p.Arg318Cys)	ADH4, LOC100507053 (R318C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380330	NM_000670.5(ADH4):c.893T>C (p.Ile298Thr)	ADH4, LOC100507053 (I298T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547097	NM_000670.5(ADH4):c.703T>C (p.Phe235Leu)	ADH4, LOC100507053 (F235L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378356	NM_000670.5(ADH4):c.692A>G (p.Asn231Ser)	ADH4, LOC100507053 (N231S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591771	NM_000670.5(ADH4):c.664G>A (p.Ala222Thr)	ADH4, LOC100507053 (A241T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590461	NM_000670.5(ADH4):c.632T>C (p.Leu211Pro)	ADH4, LOC100507053 (L230P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089012	NM_000670.5(ADH4):c.625G>T (p.Val209Leu)	ADH4, LOC100507053 (V209L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089007	NM_000670.5(ADH4):c.602G>A (p.Cys201Tyr)	ADH4, LOC100507053 (C201Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089004	NM_000670.5(ADH4):c.563C>T (p.Ala188Val)	ADH4, LOC100507053 (A207V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088995	NM_000670.5(ADH4):c.438C>G (p.Phe146Leu)	ADH4, LOC100507053 (F146L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088989	NM_000670.5(ADH4):c.395A>C (p.Lys132Thr)	ADH4, LOC100507053 (K151T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546986	NM_000670.5(ADH4):c.275T>C (p.Ile92Thr)	ADH4, LOC100507053 (I111T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210437	NM_000670.5(ADH4):c.260C>G (p.Pro87Arg)	ADH4, LOC100507053 (P106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357164	NM_000670.5(ADH4):c.253G>A (p.Val85Ile)	ADH4, LOC100507053 (V85I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617910	NM_000670.5(ADH4):c.215C>T (p.Ala72Val)	ADH4, LOC100507053 (A72V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555225	NM_000670.5(ADH4):c.206A>G (p.His69Arg)	ADH4, LOC100507053 (H88R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088973	NM_000670.5(ADH4):c.200T>C (p.Val67Ala)	ADH4, LOC100507053 (V86A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088971	NM_000670.5(ADH4):c.199G>A (p.Val67Ile)	ADH4, LOC100507053 (V67I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405162	NM_000670.5(ADH4):c.184G>C (p.Ala62Pro)	ADH4, LOC100507053 (A62P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226617	NM_000670.5(ADH4):c.97A>G (p.Lys33Glu)	ADH4, LOC100507053 (K52E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089044	NM_000670.5(ADH4):c.95C>G (p.Pro32Arg)	LOC100507053, ADH4 (P32R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222891	NM_000670.5(ADH4):c.95C>T (p.Pro32Leu)	ADH4, LOC100507053 (P32L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204549	NM_000670.5(ADH4):c.82G>A (p.Glu28Lys)	ADH4, LOC100507053 (E28K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226403	NM_000670.5(ADH4):c.61C>G (p.Pro21Ala)	ADH4, LOC100507053 (P21A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 805977	NM_000670.5(ADH4):c.51dup (p.Ala18fs)	LOC100507053, ADH4 (A18fs +1 more)	Duplication (frameshift variant)	CIC-DUX Sarcoma	Gnot provided
Select item 3088998	NM_000670.5(ADH4):c.43G>A (p.Ala15Thr)	ADH4, LOC100507053 (A15T +1 more)	Single nucleotide variant (missense variant)	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	SPATA18, SPATA4 +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

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Items: 47