ClinVar for Gene (Select 3627) - ClinVar

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

Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	DDX60L, MTHFD2L +537 more	Copy number gain	not provided	GPathogenic
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 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 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 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	LOC116158500, LOC116158501 +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 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)	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
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +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	LOC129992714, LOC129992715 +236 more	Copy number loss	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

Links from Gene

Items: 33