CXCL12[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1291069	NM_000609.7(CXCL12):c.*519G>A	CXCL12	Single nucleotide variant (3 prime UTR 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)	not provided	GBenign
Select item 3037442	NM_001277990.2(CXCL12):c.110-6A>G	CXCL12	Single nucleotide variant (3 prime UTR variant +1 more)	CXCL12-related disorder	GLikely benign
Select item 1280296	NM_000609.7(CXCL12):c.267-65T>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 1272932	NM_000609.7(CXCL12):c.267-235G>A	CXCL12	Single nucleotide variant (intron variant)	not provided	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 1250974	NM_000609.7(CXCL12):c.266+2537C>T	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3044678	NM_199168.4(CXCL12):c.*884A>G	CXCL12	Single nucleotide variant (synonymous variant +2 more)	CXCL12-related disorder	GLikely benign
Select item 2640421	NM_199168.4(CXCL12):c.*881G>T	CXCL12	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2249000	NM_199168.4(CXCL12):c.*879G>T	CXCL12 (V140L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330339	NM_199168.4(CXCL12):c.*861T>C	CXCL12 (W134R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079169	NM_199168.4(CXCL12):c.*847C>T	CXCL12 (P129L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2493358	NM_199168.4(CXCL12):c.*825T>C	CXCL12 (C122R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079168	NM_199168.4(CXCL12):c.*817G>A	CXCL12 (R119Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3079167	NM_199168.4(CXCL12):c.*793C>T	CXCL12 (P111L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2523174	NM_199168.4(CXCL12):c.*757G>A	CXCL12 (R99K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3058031	NM_199168.4(CXCL12):c.*749C>T	CXCL12	Single nucleotide variant (synonymous variant +2 more)	CXCL12-related disorder	GLikely benign
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
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 1274726	NM_199168.4(CXCL12):c.87_88dup	CXCL12	Duplication (3 prime UTR variant +1 more)	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 1246518	NM_199168.4(CXCL12):c.180-45C>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 1234302	NM_199168.4(CXCL12):c.180-138C>A	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 2235121	NM_199168.4(CXCL12):c.106G>A (p.Glu36Lys)	CXCL12 (E36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520926	NM_199168.4(CXCL12):c.98G>A (p.Arg33Gln)	CXCL12 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1287130	NM_199168.4(CXCL12):c.62-127A>T	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 1263207	NM_199168.4(CXCL12):c.62-252G>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 1183129	NM_199168.4(CXCL12):c.61+186G>C	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 1257664	NM_199168.4(CXCL12):c.61+112G>A	CXCL12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291429	NM_199168.4(CXCL12):c.61+21_61+34dup	CXCL12	Duplication (intron variant)	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 2246712	NM_199168.4(CXCL12):c.52C>G (p.Leu18Val)	CXCL12 (L18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270401	NM_199168.4(CXCL12):c.46C>T (p.Leu16Phe)	CXCL12 (L16F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362027	NM_199168.4(CXCL12):c.44C>T (p.Ala15Val)	CXCL12 (A15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056613	NM_199168.4(CXCL12):c.-27CCGC[5]	CXCL12	Microsatellite (5 prime UTR variant)	CXCL12-related disorder	GBenign
Select item 2640422	NM_199168.4(CXCL12):c.-27CCGC[4]	CXCL12	Microsatellite (5 prime UTR variant)	not provided	GLikely benign
Select item 1174370	NC_000010.11:g.44385390T>C	CXCL12	Single nucleotide variant	not provided	GBenign

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Items: 43