ClinVar for Gene (Select 6505) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3339720	NC_000009.11:g.(4490771_4544566)_(4587470_?)del	SLC1A1	Deletion	not specified	GUncertain significance
Select item 3337591	NM_004170.6(SLC1A1):c.1285C>T (p.Pro429Ser)	SLC1A1 (P429S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3319025	NM_004170.6(SLC1A1):c.140T>C (p.Leu47Pro)	SLC1A1 (L47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319024	NM_004170.6(SLC1A1):c.784A>G (p.Ile262Val)	SLC1A1 (I262V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245400	NC_000009.11:g.(?_3828272)_(4585558_?)dup	GLIS3, SLC1A1	Duplication	not provided	GUncertain significance
Select item 3163262	NM_004170.6(SLC1A1):c.918C>A (p.Phe306Leu)	SLC1A1 (F306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163261	NM_004170.6(SLC1A1):c.77C>G (p.Ala26Gly)	SLC1A1 (A26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163260	NM_004170.6(SLC1A1):c.670C>A (p.Leu224Ile)	SLC1A1 (L224I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163259	NM_004170.6(SLC1A1):c.441G>A (p.Arg147=)	SLC1A1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3163258	NM_004170.6(SLC1A1):c.23G>A (p.Gly8Glu)	SLC1A1 (G8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163257	NM_004170.6(SLC1A1):c.1462G>A (p.Glu488Lys)	SLC1A1 (E488K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163256	NM_004170.6(SLC1A1):c.1301C>A (p.Thr434Asn)	SLC1A1 (T434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163255	NM_004170.6(SLC1A1):c.1199C>T (p.Thr400Met)	SLC1A1 (T400M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163254	NM_004170.6(SLC1A1):c.1136T>C (p.Val379Ala)	SLC1A1 (V379A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163253	NM_004170.6(SLC1A1):c.10C>T (p.Pro4Ser)	LOC130001482, SLC1A1 (P4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065478	NM_004170.6(SLC1A1):c.484-2A>G	SLC1A1	Single nucleotide variant (splice acceptor variant)	Dicarboxylic aminoaciduria	GLikely pathogenic
Select item 3063832	NC_000009.11:g.(?_4490467)_(4587470_?)dup	SLC1A1	Duplication	not specified	GUncertain significance
Select item 3063123	GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063109	GRCh37/hg19 9p24.2-24.1(chr9:4386287-4611862)x1	SLC1A1, SPATA6L	Copy number loss	not specified	GUncertain significance
Select item 3063089	GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 3063065	GRCh37/hg19 9p24.2(chr9:4339192-4523382)x1	SLC1A1	Copy number loss	not specified	GPathogenic
Select item 3063063	GRCh37/hg19 9p24.2(chr9:4386287-4561374)x1	SLC1A1	Copy number loss	not specified	GPathogenic
Select item 3042165	NM_004170.6(SLC1A1):c.483+4A>C	SLC1A1	Single nucleotide variant (intron variant)	SLC1A1-related disorder	GLikely benign
Select item 3038542	NM_004170.6(SLC1A1):c.1290C>T (p.Ala430=)	SLC1A1	Single nucleotide variant (synonymous variant)	SLC1A1-related disorder	GLikely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2664560	NM_004170.6(SLC1A1):c.749del (p.Ile250fs)	SLC1A1 (I250fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2618694	NM_004170.6(SLC1A1):c.1308C>G (p.Ile436Met)	SLC1A1 (I436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613850	NM_004170.6(SLC1A1):c.1078C>A (p.Pro360Thr)	SLC1A1 (P360T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551882	NM_004170.6(SLC1A1):c.871A>C (p.Thr291Pro)	SLC1A1 (T291P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481396	NM_004170.6(SLC1A1):c.472T>C (p.Cys158Arg)	SLC1A1 (C158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427400	NC_000009.11:g.(?_3828272)_(5126791_?)del	AK3, CDC37L1 +7 more	Deletion	not provided	GPathogenic
Select item 2405116	NM_004170.6(SLC1A1):c.1472T>A (p.Ile491Asn)	SLC1A1 (I491N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385268	NM_004170.6(SLC1A1):c.1025G>A (p.Arg342His)	SLC1A1 (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371240	NM_004170.6(SLC1A1):c.410G>A (p.Ser137Asn)	SLC1A1 (S137N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352898	NM_004170.6(SLC1A1):c.386G>A (p.Arg129Lys)	SLC1A1 (R129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349604	NM_004170.6(SLC1A1):c.36G>C (p.Lys12Asn)	SLC1A1 (K12N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304607	NM_004170.6(SLC1A1):c.436A>C (p.Ile146Leu)	SLC1A1 (I146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299513	NM_004170.6(SLC1A1):c.1189A>C (p.Ile397Leu)	SLC1A1 (I397L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296270	NM_004170.6(SLC1A1):c.563T>C (p.Met188Thr)	SLC1A1 (M188T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279456	NM_004170.6(SLC1A1):c.962C>T (p.Ala321Val)	SLC1A1 (A321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252704	NM_004170.6(SLC1A1):c.310A>G (p.Ile104Val)	SLC1A1 (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238886	NM_004170.6(SLC1A1):c.13G>A (p.Ala5Thr)	LOC130001482, SLC1A1 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220384	NM_004170.6(SLC1A1):c.1015G>C (p.Val339Leu)	SLC1A1 (V339L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213794	NM_004170.6(SLC1A1):c.126C>G (p.Ser42Arg)	SLC1A1 (S42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808278	GRCh37/hg19 9p24.2-24.1(chr9:4386288-5003101)x1	AK3, CDC37L1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1807926	GRCh37/hg19 9p24.2-24.1(chr9:4064988-4668671)x3	GLIS3, PLPP6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1807859	GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4	RIC1, RLN1 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	AK3, BRD10 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	AK3, BRD10 +37 more	Copy number loss	See cases	GPathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703682	GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823)	AK3, BRD10 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	IL33, RCL1 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, BRD10 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1684649	Single allele	LOC130001502, LOC130001503 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 1527500	GRCh37/hg19 9p24.2-24.1(chr9:4529859-4734644)	AK3, CDC37L1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, BRD10 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, BRD10 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, BRD10 +41 more	Copy number loss	not specified	GPathogenic
Select item 1527480	GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527479	GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527478	GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	AK3, BRD10 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527477	GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331)	AK3, BRD10 +35 more	Copy number loss	not specified	GPathogenic
Select item 1527476	GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)	AK3, CD274 +28 more	Copy number loss	not specified	GPathogenic
Select item 1341105	GRCh37/hg19 9p24.2-24.1(chr9:4442475-4684969)x3	CDC37L1, PLPP6 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1341036	GRCh37/hg19 9p24.2-24.1(chr9:4493035-4620791)x1	SLC1A1, SPATA6L	Copy number loss	not provided	GUncertain significance
Select item 1340961	GRCh37/hg19 9p24.2(chr9:4128010-4547288)x3	GLIS3, SLC1A1	Copy number gain	not provided	GUncertain significance
Select item 1340722	GRCh37/hg19 9p24.2(chr9:4400990-4522460)x1	SLC1A1	Copy number loss	not provided	GUncertain significance
Select item 1340407	GRCh37/hg19 9p24.2(chr9:4465464-4529860)x1	SLC1A1	Copy number loss	not provided	GLikely benign
Select item 1294858	NM_004170.6(SLC1A1):c.1194-195T>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291041	NM_004170.6(SLC1A1):c.233-28T>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285926	NM_004170.6(SLC1A1):c.998+44G>A	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281848	NM_004170.6(SLC1A1):c.1328+203G>A	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275626	NM_004170.6(SLC1A1):c.325+89G>A	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274848	NC_000009.12:g.4490207C>A	GLIS3, SLC1A1	Single nucleotide variant	not provided	GBenign
Select item 1267341	NC_000009.12:g.4490134T>G	GLIS3, SLC1A1	Single nucleotide variant	not provided	GBenign
Select item 1266422	NM_004170.6(SLC1A1):c.767+92T>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264590	NM_004170.6(SLC1A1):c.91+110T>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263804	NM_004170.6(SLC1A1):c.232+200A>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262562	NM_004170.6(SLC1A1):c.325+110G>A	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261545	NM_004170.6(SLC1A1):c.441-213A>G	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259249	NM_004170.6(SLC1A1):c.233-23T>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254104	NM_004170.6(SLC1A1):c.233-75C>T	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252865	NM_004170.6(SLC1A1):c.325+228T>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246247	NM_004170.6(SLC1A1):c.875+31C>G	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246214	NM_004170.6(SLC1A1):c.768-321G>T	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245469	NM_004170.6(SLC1A1):c.876-328A>G	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245171	NM_004170.6(SLC1A1):c.767+88C>T	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign

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