LOC100507053[gene] - ClinVar

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Items: 74

	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 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)	ADH4, LOC100507053 (A18fs +1 more)	Duplication (frameshift variant)	CIC-rearranged 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 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 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

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Items: 74