ClinVar for Gene (Select 93034) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2609027	NM_033253.4(NT5C1B):c.433C>T (p.Arg145Cys)	NT5C1B, NT5C1B-RDH14 (R145C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607709	NM_033253.4(NT5C1B):c.703A>G (p.Ser235Gly)	NT5C1B, NT5C1B-RDH14 (S237G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603241	NM_033253.4(NT5C1B):c.120+467G>T	NT5C1B, NT5C1B-RDH14 (M86I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2599640	NM_033253.4(NT5C1B):c.196C>T (p.Arg66Trp)	NT5C1B-RDH14, NT5C1B (R109W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591314	NM_033253.4(NT5C1B):c.252T>G (p.Ser84Arg)	NT5C1B, NT5C1B-RDH14 (S144R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588328	NM_033253.4(NT5C1B):c.120+448T>C	NT5C1B, NT5C1B-RDH14 (I63T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588178	NM_033253.4(NT5C1B):c.107G>A (p.Arg36His)	NT5C1B, NT5C1B-RDH14 (R36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551755	NM_033253.4(NT5C1B):c.418G>A (p.Asp140Asn)	NT5C1B, NT5C1B-RDH14 (D183N +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547519	NM_033253.4(NT5C1B):c.814C>A (p.Leu272Met)	NT5C1B, NT5C1B-RDH14 (L272M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537751	NM_033253.4(NT5C1B):c.1411A>G (p.Ile471Val)	NT5C1B, NT5C1B-RDH14 (I548V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532851	NM_033253.4(NT5C1B):c.362C>G (p.Ala121Gly)	NT5C1B-RDH14, NT5C1B (A181G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531246	NM_033253.4(NT5C1B):c.1396C>T (p.Arg466Trp)	NT5C1B, NT5C1B-RDH14 (R509W +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526869	NM_033253.4(NT5C1B):c.1271A>G (p.His424Arg)	NT5C1B, NT5C1B-RDH14 (H501R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523797	NM_033253.4(NT5C1B):c.60G>C (p.Glu20Asp)	NT5C1B, NT5C1B-RDH14 (E20D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521453	NM_033253.4(NT5C1B):c.1628G>T (p.Gly543Val)	NT5C1B, NT5C1B-RDH14 (G543V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2465604	NM_033253.4(NT5C1B):c.217C>T (p.Pro73Ser)	NT5C1B, NT5C1B-RDH14 (P116S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457606	NM_033253.4(NT5C1B):c.120+450C>T	NT5C1B, NT5C1B-RDH14 (R81C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455157	NM_033253.4(NT5C1B):c.361G>C (p.Ala121Pro)	NT5C1B, NT5C1B-RDH14 (A121P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407514	NM_033253.4(NT5C1B):c.120+399C>T	NT5C1B, NT5C1B-RDH14 (R47C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2383548	NM_033253.4(NT5C1B):c.197G>A (p.Arg66Gln)	NT5C1B-RDH14, NT5C1B (R109Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360778	NM_033253.4(NT5C1B):c.1345T>C (p.Phe449Leu)	NT5C1B-RDH14, NT5C1B (F509L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358408	NM_033253.4(NT5C1B):c.780G>C (p.Met260Ile)	NT5C1B, NT5C1B-RDH14 (M322I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349634	NM_033253.4(NT5C1B):c.1589T>C (p.Ile530Thr)	NT5C1B-RDH14, NT5C1B (I573T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348681	NM_033253.4(NT5C1B):c.120+421G>C	NT5C1B, NT5C1B-RDH14 (G71A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332477	NM_033253.4(NT5C1B):c.173G>T (p.Arg58Leu)	NT5C1B, NT5C1B-RDH14 (R118L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311957	NM_033253.4(NT5C1B):c.616G>C (p.Glu206Gln)	NT5C1B, NT5C1B-RDH14 (E268Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299440	NM_033253.4(NT5C1B):c.533C>T (p.Thr178Met)	NT5C1B, NT5C1B-RDH14 (T178M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299439	NM_033253.4(NT5C1B):c.1204C>T (p.Leu402Phe)	NT5C1B, NT5C1B-RDH14 (L404F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288578	NM_033253.4(NT5C1B):c.502C>T (p.Arg168Trp)	NT5C1B, NT5C1B-RDH14 (R211W +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277730	NM_033253.4(NT5C1B):c.610C>G (p.Leu204Val)	NT5C1B-RDH14, NT5C1B (L264V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274135	NM_033253.4(NT5C1B):c.760T>A (p.Ser254Thr)	NT5C1B, NT5C1B-RDH14 (S256T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273667	NM_033253.4(NT5C1B):c.1272T>A (p.His424Gln)	NT5C1B, NT5C1B-RDH14 (H486Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222703	NM_033253.4(NT5C1B):c.106C>T (p.Arg36Cys)	NT5C1B, NT5C1B-RDH14 (R36C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205311	NM_033253.4(NT5C1B):c.1618G>A (p.Ala540Thr)	NT5C1B-RDH14, NT5C1B (A602T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1180531	GRCh37/hg19 2p24.3-24.1(chr2:15640273-19609496)x1	CYRIA, DDX1 +13 more	Copy number loss	not provided	GPathogenic
Select item 770125	NM_033253.4(NT5C1B):c.312T>C (p.His104=)	NT5C1B, NT5C1B-RDH14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731342	NM_033253.4(NT5C1B):c.330G>A (p.Pro110=)	NT5C1B-RDH14, NT5C1B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 726715	NM_033253.4(NT5C1B):c.157C>T (p.Arg53Ter)	NT5C1B-RDH14, NT5C1B (R130* +3 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 725561	NM_033253.4(NT5C1B):c.120+359G>A	NT5C1B, NT5C1B-RDH14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712926	NM_033253.4(NT5C1B):c.140T>C (p.Leu47Pro)	NT5C1B, NT5C1B-RDH14 (L90P +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 710542	NM_033253.4(NT5C1B):c.120+348C>G	NT5C1B, NT5C1B-RDH14 (P47A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 687179	GRCh37/hg19 2p24.3-24.1(chr2:15631145-21729493)x1	APOB, CYRIA +25 more	Copy number loss	not provided	GPathogenic
Select item 446356	GRCh37/hg19 2p24.2(chr2:17814030-18851257)x3	GEN1, KCNS3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 155299	GRCh38/hg38 2p24.2-24.1(chr2:18439073-19428650)x1	LINC01376, LOC121725080 +21 more	Copy number loss	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129932995, LOC129932996 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806176, LOC126806177 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	LOC129933180, LOC129933181 +498 more	Copy number gain	See cases	GPathogenic
Select item 150627	GRCh38/hg38 2p24.2-24.1(chr2:16723596-21600734)x1	HS1BP3, APOB +131 more	Copy number loss	See cases	GPathogenic
Select item 148848	GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3	LOC126806154, LOC126806155 +546 more	Copy number gain	See cases	GPathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	ACP1, ADAM17 +736 more	Copy number gain	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933242, LOC129933243 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 61