ClinVar for Gene (Select 6387) - ClinVar

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Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058031	NM_199168.4(CXCL12):c.*749C>T	CXCL12	Single nucleotide variant (synonymous variant +2 more)	CXCL12-related condition	GLikely benign
Select item 3056613	NM_199168.4(CXCL12):c.-27CCGC[5]	CXCL12	Microsatellite (5 prime UTR variant)	CXCL12-related condition	GBenign
Select item 3044678	NM_199168.4(CXCL12):c.*884A>G	CXCL12	Single nucleotide variant (intron variant +2 more)	CXCL12-related condition	GLikely benign
Select item 3037442	NM_001277990.2(CXCL12):c.110-6A>G	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	CXCL12-related condition	GLikely benign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2640422	NM_199168.4(CXCL12):c.-27CCGC[4]	CXCL12	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 2640421	NM_199168.4(CXCL12):c.*881G>T	CXCL12	Single nucleotide variant (synonymous variant +2 more)	CXCL12-related condition +1 more	GBenign/Likely benign
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2523174	NM_199168.4(CXCL12):c.*757G>A	CXCL12 (R99K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2520926	NM_199168.4(CXCL12):c.98G>A (p.Arg33Gln)	CXCL12 (R33Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493358	NM_199168.4(CXCL12):c.*825T>C	CXCL12 (C122R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2362027	NM_199168.4(CXCL12):c.44C>T (p.Ala15Val)	CXCL12 (A15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330339	NM_199168.4(CXCL12):c.*861T>C	CXCL12 (W134R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2249000	NM_199168.4(CXCL12):c.*879G>T	CXCL12 (V140L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2246712	NM_199168.4(CXCL12):c.52C>G (p.Leu18Val)	CXCL12 (L18V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235121	NM_199168.4(CXCL12):c.106G>A (p.Glu36Lys)	CXCL12 (E36K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ACBD7, ABI1 +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1291429	NM_199168.4(CXCL12):c.61+21_61+34dup	CXCL12	Duplication (intron variant)	not provided	GBenign
Select item 1291069	NM_000609.7(CXCL12):c.*519G>A	CXCL12	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1287130	NM_199168.4(CXCL12):c.62-127A>T	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284236	NM_199168.4(CXCL12):c.180-82G>A	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282625	NM_199168.4(CXCL12):c.62-171A>G	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280296	NM_000609.7(CXCL12):c.267-65T>G	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279262	NM_199168.4(CXCL12):c.179+329G>C	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274726	NM_199168.4(CXCL12):c.87_88dup	CXCL12	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1273360	NM_199168.4(CXCL12):c.61+17G>A	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272932	NM_000609.7(CXCL12):c.267-235G>A	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263207	NM_199168.4(CXCL12):c.62-252G>C	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257664	NM_199168.4(CXCL12):c.61+112G>A	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251315	NM_199168.4(CXCL12):c.*232T>C	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1250974	NM_000609.7(CXCL12):c.266+2537C>T	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246518	NM_199168.4(CXCL12):c.180-45C>T	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240590	NM_199168.4(CXCL12):c.61+133A>G	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237787	NM_000609.7(CXCL12):c.267-73G>A	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234302	NM_199168.4(CXCL12):c.180-138C>A	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233193	NM_001277990.2(CXCL12):c.183G>A (p.Leu61=)	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	CXCL12-related condition +1 more	GBenign
Select item 1220639	NM_000609.7(CXCL12):c.267-2555C>T	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1183129	NM_199168.4(CXCL12):c.61+186G>C	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181019	NM_199168.4(CXCL12):c.62-258A>T	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174370	NC_000010.11:g.44385390T>C	CXCL12	Single nucleotide variant	not provided	GBenign
Select item 625926	NM_199168.4(CXCL12):c.*2C>T	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	Susceptibility to HIV infection	GUncertain significance
Select item 624469	GRCh37/hg19 10p11.21-q11.22(chr10:37149872-46169876)x3	ALOX5, ANKRD30A +24 more	Copy number gain	not provided	GLikely pathogenic
Select item 563770	GRCh37/hg19 10q11.21(chr10:44175698-45465655)x1	TMEM72, RASSF4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 495230	NC_000010.10:g.43611191_61663279inv	CCDC6, ZNF32 +75 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	NFKB2, NHLRC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ANXA8L1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	A1CF, AGAP10 +309 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	A1CF, AGAP10 +306 more	Copy number gain	See cases	GPathogenic
Select item 8762	NM_199168.4(CXCL12):c.*531G>A	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	Susceptibility to HIV infection	Gprotective

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Links from Gene

Items: 58