ClinVar for Gene (Select 419) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129958	NM_001130016.3(ART3):c.872A>T (p.Asp291Val)	ART3 (D291V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129957	NM_001130016.3(ART3):c.521G>A (p.Gly174Glu)	ART3 (G174E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129956	NM_001130016.3(ART3):c.419T>A (p.Phe140Tyr)	ART3 (F140Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129955	NM_001130016.3(ART3):c.402G>T (p.Gln134His)	ART3 (Q134H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129954	NM_001130016.3(ART3):c.399C>G (p.Phe133Leu)	ART3 (F133L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129953	NM_001130016.3(ART3):c.20A>C (p.Glu7Ala)	ART3 (E7A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129952	NM_001130016.3(ART3):c.186C>G (p.Ser62Arg)	ART3 (S62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129951	NM_001130016.3(ART3):c.16T>C (p.Phe6Leu)	ART3 (F6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079166	NM_001565.4(CXCL10):c.83T>C (p.Val28Ala)	ART3, CXCL10 (V28A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062778	GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1	AREG, ART3 +37 more	Copy number loss	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2614113	NM_001130016.3(ART3):c.40G>T (p.Ala14Ser)	ART3 (A14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600348	NM_001130016.3(ART3):c.296T>A (p.Met99Lys)	ART3 (M99K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591156	NM_005409.5(CXCL11):c.190A>G (p.Ile64Val)	ART3, CXCL11 (I64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528238	NM_005409.5(CXCL11):c.234A>C (p.Lys78Asn)	ART3, CXCL11 (K78N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518196	NM_001130016.3(ART3):c.908G>A (p.Gly303Asp)	ART3 (G293D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518195	NM_001130016.3(ART3):c.454C>A (p.Pro152Thr)	ART3 (P152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517570	NM_001565.4(CXCL10):c.202A>G (p.Lys68Glu)	ART3, CXCL10 (K68E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516821	NM_001130016.3(ART3):c.577G>A (p.Ala193Thr)	ART3 (A193T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516678	NM_001130016.3(ART3):c.903C>A (p.Asp301Glu)	ART3 (D291E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494248	NM_005409.5(CXCL11):c.263A>C (p.Lys88Thr)	ART3, CXCL11 (K88T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492733	NM_001130016.3(ART3):c.920A>G (p.Gln307Arg)	ART3 (Q297R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464556	NM_001130016.3(ART3):c.163C>A (p.Leu55Met)	ART3 (L55M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460489	NM_001130016.3(ART3):c.1145C>A (p.Ala382Asp)	ART3 (A382D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457425	NM_001130016.3(ART3):c.613A>C (p.Thr205Pro)	ART3 (T205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409509	NM_005409.5(CXCL11):c.59A>C (p.Gln20Pro)	ART3, CXCL11 (Q20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385701	NM_001130016.3(ART3):c.872A>G (p.Asp291Gly)	ART3 (D291G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327969	NM_001565.4(CXCL10):c.158C>T (p.Ala53Val)	ART3, CXCL10 (A53V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303179	NM_001130016.3(ART3):c.414C>G (p.Phe138Leu)	ART3 (F138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289112	NM_001130016.3(ART3):c.898G>C (p.Glu300Gln)	ART3 (E268Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244510	NM_001130016.3(ART3):c.560A>G (p.Tyr187Cys)	ART3 (Y187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239963	NM_001130016.3(ART3):c.724C>T (p.Leu242Phe)	ART3 (L242F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233008	NM_001130016.3(ART3):c.353C>T (p.Ala118Val)	ART3 (A118V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229108	NM_005409.5(CXCL11):c.242A>T (p.Gln81Leu)	ART3, CXCL11 (Q81L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214856	NM_001565.4(CXCL10):c.89G>A (p.Cys30Tyr)	ART3, CXCL10 (C30Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212567	NM_001130016.3(ART3):c.1049T>C (p.Val350Ala)	ART3 (V318A +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808146	GRCh37/hg19 4q21.1(chr4:76872306-77038327)x1	ART3, CXCL10 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	CXCL11, LOC123477757 +330 more	Deletion	See cases	GPathogenic
Select item 1527097	GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	ABCG2, ABRAXAS1 +91 more	Copy number gain	not specified	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1456083	NC_000004.11:g.(?_76481293)_(77700330_?)del	ART3, CCDC158 +16 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 980097	GRCh37/hg19 4q21.1(chr4:76714825-76978984)x3	ART3, USO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980096	GRCh37/hg19 4q21.1(chr4:76998519-77433888)x3	STBD1, NUP54 +6 more	Copy number gain	not provided	GUncertain significance
Select item 980095	GRCh37/hg19 4q21.1(chr4:77029893-77105624)x1	NUP54, SCARB2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 773454	NM_001565.4(CXCL10):c.85C>T (p.Arg29Cys)	ART3, CXCL10 (R29C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 731714	NM_001565.4(CXCL10):c.243C>A (p.Ala81=)	ART3, CXCL10	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 562934	GRCh37/hg19 4q21.1(chr4:76770579-76998151)x3	ART3, CXCL9 +5 more	Copy number gain	not provided	GLikely benign
Select item 562933	GRCh37/hg19 4q13.3-21.1(chr4:75353931-77183033)x1	BTC, PARM1 +17 more	Copy number loss	not provided	GUncertain significance
Select item 562932	GRCh37/hg19 4q13.3-21.1(chr4:74890695-77318961)x1	CDKL2, AREG +25 more	Copy number loss	not provided	GUncertain significance
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	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992716, LOC129992717 +533 more	Copy number gain	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 57365	GRCh38/hg38 4q21.1(chr4:75729757-76160423)x1	ART3, CXCL10 +16 more	Copy number loss	See cases	GUncertain significance
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992733, LOC129992734 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 65