10638[HGNC] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	PARM1-AS1, PCAT4 +330 more	Deletion	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 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 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 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	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 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
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 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 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 3270400	NM_005409.5(CXCL11):c.215A>G (p.Gln72Arg)	ART3, CXCL11 (Q72R)	Single nucleotide variant (missense variant +1 more)	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 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 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	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 1808146	GRCh37/hg19 4q21.1(chr4:76872306-77038327)x1	ART3, CXCL10 +4 more	Copy number loss	not provided	GUncertain significance
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 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	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic

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Items: 33