ClinVar for Gene (Select 6505) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	ABCA1, ABCA2 +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 condition	GLikely benign
Select item 3038542	NM_004170.6(SLC1A1):c.1290C>T (p.Ala430=)	SLC1A1	Single nucleotide variant (synonymous variant)	SLC1A1-related condition	GLikely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	ACER2, ACO1 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2618694	NM_004170.6(SLC1A1):c.1308C>G (p.Ile436Met)	SLC1A1 (I436M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613850	NM_004170.6(SLC1A1):c.1078C>A (p.Pro360Thr)	SLC1A1 (P360T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551882	NM_004170.6(SLC1A1):c.871A>C (p.Thr291Pro)	SLC1A1 (T291P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481396	NM_004170.6(SLC1A1):c.472T>C (p.Cys158Arg)	SLC1A1 (C158R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2427400	NC_000009.11:g.(?_3828272)_(5126791_?)del	RCL1, SLC1A1 +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)	Inborn genetic diseases	GUncertain significance
Select item 2385268	NM_004170.6(SLC1A1):c.1025G>A (p.Arg342His)	SLC1A1 (R342H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371240	NM_004170.6(SLC1A1):c.410G>A (p.Ser137Asn)	SLC1A1 (S137N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352898	NM_004170.6(SLC1A1):c.386G>A (p.Arg129Lys)	SLC1A1 (R129K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349604	NM_004170.6(SLC1A1):c.36G>C (p.Lys12Asn)	SLC1A1 (K12N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304607	NM_004170.6(SLC1A1):c.436A>C (p.Ile146Leu)	SLC1A1 (I146L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299513	NM_004170.6(SLC1A1):c.1189A>C (p.Ile397Leu)	SLC1A1 (I397L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296270	NM_004170.6(SLC1A1):c.563T>C (p.Met188Thr)	SLC1A1 (M188T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279456	NM_004170.6(SLC1A1):c.962C>T (p.Ala321Val)	SLC1A1 (A321V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252704	NM_004170.6(SLC1A1):c.310A>G (p.Ile104Val)	SLC1A1 (I104V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238886	NM_004170.6(SLC1A1):c.13G>A (p.Ala5Thr)	LOC130001482, SLC1A1 (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220384	NM_004170.6(SLC1A1):c.1015G>C (p.Val339Leu)	SLC1A1 (V339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213794	NM_004170.6(SLC1A1):c.126C>G (p.Ser42Arg)	SLC1A1 (S42R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	AK3, CD274 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	DMRT3, DOCK8 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	FOXD4, PLGRKT +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706515	GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1	KIAA2026, RLN2 +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, CD274 +36 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703680	GRCh37/hg19 9p24.3-23(chr9:203861-12570076)	AK3, CD274 +37 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703678	GRCh37/hg19 9p24.3-23(chr9:203861-12127088)	AK3, CD274 +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	LOC130001549, LOC130001550 +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)	RIGI, RLN1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	CDKN2B-AS1, ABHD17B +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACO1, IFNA8 +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, CD274 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, CD274 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, CD274 +41 more	Copy number loss	not specified	GPathogenic
Select item 1527480	GRCh37/hg19 9p24.3-23(chr9:203861-11414732)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527479	GRCh37/hg19 9p24.3-23(chr9:203861-9631665)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527478	GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)	AK3, CD274 +37 more	Copy number loss	not specified	GPathogenic
Select item 1527477	GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331)	AK3, CD274 +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
Select item 1244425	NM_004170.6(SLC1A1):c.875+67G>T	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239990	NM_004170.6(SLC1A1):c.325+55G>A	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231703	NM_004170.6(SLC1A1):c.999-118T>G	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227280	NM_004170.6(SLC1A1):c.767+180G>A	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226556	NM_004170.6(SLC1A1):c.1193+88G>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181392	NM_004170.6(SLC1A1):c.483+121A>C	SLC1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	ADAMTSL1, AK3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 1047875	GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677)	AK3, CD274 +25 more	Copy number gain	Global developmental delay	GPathogenic
Select item 1042801	NC_000009.11:g.(?_2029023)_(5300444_?)dup	AK3, CDC37L1 +15 more	Duplication	not provided	GUncertain significance
Select item 1034055	NM_004170.6(SLC1A1):c.768-4C>G	SLC1A1	Single nucleotide variant (intron variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	AK3, BNC2 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 980909	GRCh37/hg19 9p24.2(chr9:4465803-4529860)x1	SLC1A1	Copy number loss	not provided	GLikely benign
Select item 976601	NM_004170.6(SLC1A1):c.173T>A (p.Ile58Asn)	SLC1A1 (I58N)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 976565	NM_004170.6(SLC1A1):c.398C>A (p.Thr133Asn)	SLC1A1 (T133N)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance
Select item 976564	NM_004170.6(SLC1A1):c.274C>A (p.Leu92Met)	SLC1A1 (L92M)	Single nucleotide variant (missense variant)	Dicarboxylic aminoaciduria	GUncertain significance

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