6519[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 147991	GRCh38/hg38 2p21(chr2:43676810-45016061)x3	ABCG5, ABCG8 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146326	GRCh38/hg38 2p21(chr2:43762375-44960289)x3	ABCG5, ABCG8 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1263570	NC_000002.12:g.44275176T>G	SLC3A1	Single nucleotide variant	not provided	GBenign
Select item 897001	NM_000341.3(SLC3A1):c.-82T>G	SLC3A1	Single nucleotide variant	Cystinuria	GUncertain significance
Select item 336182	NM_000341.3(SLC3A1):c.-65C>T	SLC3A1	Single nucleotide variant	Cystinuria	GUncertain significance
Select item 897002	NM_000341.4(SLC3A1):c.-16C>T	SLC3A1	Single nucleotide variant (5 prime UTR variant)	Cystinuria	GUncertain significance
Select item 2682565	NM_000341.4(SLC3A1):c.1A>G (p.Met1Val)	SLC3A1 (M1V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2068627	NM_000341.4(SLC3A1):c.8A>G (p.Glu3Gly)	SLC3A1 (E3G)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2048144	NM_000341.4(SLC3A1):c.13A>G (p.Lys5Glu)	SLC3A1 (K5E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1507642	NM_000341.4(SLC3A1):c.17G>A (p.Ser6Asn)	SLC3A1 (S6N)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 336183	NM_000341.4(SLC3A1):c.24A>C (p.Arg8Ser)	SLC3A1 (R8S)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 618370	NM_000341.4(SLC3A1):c.50G>C (p.Gly17Ala)	SLC3A1 (G17A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1121819	NM_000341.4(SLC3A1):c.63C>T (p.Asn21=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 786807	NM_000341.4(SLC3A1):c.66C>T (p.Asn22=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GConflicting classifications of pathogenicity
Select item 1462171	NM_000341.4(SLC3A1):c.67G>A (p.Gly23Arg)	SLC3A1 (G23R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2066806	NM_000341.4(SLC3A1):c.100A>G (p.Thr34Ala)	SLC3A1 (T34A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 336184	NM_000341.4(SLC3A1):c.114A>C (p.Gly38=)	SLC3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 897481	NM_000341.4(SLC3A1):c.124G>C (p.Asp42His)	SLC3A1 (D42H)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2736060	NM_000341.4(SLC3A1):c.141C>T (p.Ser47=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 3164739	NM_000341.4(SLC3A1):c.148G>A (p.Gly50Ser)	SLC3A1 (G50S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2615335	NM_000341.4(SLC3A1):c.161C>A (p.Ser54Tyr)	SLC3A1 (S54Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 502014	NM_000341.4(SLC3A1):c.163del (p.Gln55fs)	SLC3A1 (Q55fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 336185	NM_000341.4(SLC3A1):c.166G>A (p.Glu56Lys)	SLC3A1 (E56K)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2289735	NM_000341.4(SLC3A1):c.170C>T (p.Pro57Leu)	SLC3A1 (P57L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446003	NM_000341.4(SLC3A1):c.183del (p.Val62fs)	SLC3A1 (V62fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 1559121	NM_000341.4(SLC3A1):c.183C>T (p.Gly61=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 336186	NM_000341.4(SLC3A1):c.184G>A (p.Val62Ile)	SLC3A1 (V62I)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 591307	NM_000341.4(SLC3A1):c.194A>G (p.Tyr65Cys)	SLC3A1 (Y65C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098911	NM_000341.4(SLC3A1):c.195T>C (p.Tyr65=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 3034811	NM_000341.4(SLC3A1):c.198G>A (p.Ala66=)	SLC3A1	Single nucleotide variant (synonymous variant)	SLC3A1-related disorder	GLikely benign
Select item 897482	NM_000341.4(SLC3A1):c.201G>T (p.Gly67=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GUncertain significance
Select item 526034	NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)	SLC3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897483	NM_000341.4(SLC3A1):c.241C>T (p.Arg81Cys)	SLC3A1 (R81C)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2582222	NM_000341.4(SLC3A1):c.242G>T (p.Arg81Leu)	SLC3A1	Single nucleotide variant (missense variant)	Cystinuria	GPathogenic
Select item 840022	NM_000341.4(SLC3A1):c.247C>T (p.Arg83Cys)	SLC3A1 (R83C)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2444138	NM_000341.4(SLC3A1):c.256C>T (p.Arg86Trp)	SLC3A1 (R86W)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 732135	NM_000341.4(SLC3A1):c.264C>T (p.Ile88=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2194451	NM_000341.4(SLC3A1):c.266T>C (p.Leu89Pro)	SLC3A1 (L89P)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 1597347	NM_000341.4(SLC3A1):c.276C>T (p.Leu92=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 1353812	NM_000341.4(SLC3A1):c.290T>C (p.Val97Ala)	SLC3A1 (V97A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 982868	NM_000341.4(SLC3A1):c.292C>A (p.Leu98Met)	SLC3A1 (L98M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 898638	NM_000341.4(SLC3A1):c.298C>T (p.Leu100Phe)	SLC3A1 (L100F)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 712263	NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)	SLC3A1	Single nucleotide variant (synonymous variant)	SLC3A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 336187	NM_000341.4(SLC3A1):c.303C>T (p.Ile101=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GUncertain significance
Select item 898639	NM_000341.4(SLC3A1):c.313A>G (p.Ile105Val)	SLC3A1 (I105V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 799110	NM_000341.4(SLC3A1):c.318C>T (p.Ala106=)	SLC3A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1713456	NM_000341.4(SLC3A1):c.322A>T (p.Ile108Phe)	SLC3A1 (I108F)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 950698	NM_000341.4(SLC3A1):c.322A>G (p.Ile108Val)	SLC3A1 (I108V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2825494	NM_000341.4(SLC3A1):c.327C>G (p.Ala109=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2446442	NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)	SLC3A1 (S111F)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 591216	NM_000341.4(SLC3A1):c.334C>T (p.Pro112Ser)	SLC3A1 (P112S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009821	NM_000341.4(SLC3A1):c.339G>A (p.Lys113=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 1064450	NM_000341.4(SLC3A1):c.342_346dup (p.Asp116delinsAlaTer)	SLC3A1	Duplication (nonsense)	Cystinuria	GPathogenic
Select item 3005575	NM_000341.4(SLC3A1):c.360G>A (p.Glu120=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 1625645	NM_000341.4(SLC3A1):c.363G>A (p.Gly121=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2814665	NM_000341.4(SLC3A1):c.368T>C (p.Met123Thr)	SLC3A1 (M123T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 336188	NM_000341.4(SLC3A1):c.395A>G (p.Lys132Arg)	SLC3A1 (K132R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 336189	NM_000341.4(SLC3A1):c.417C>T (p.Asn139=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GConflicting classifications of pathogenicity
Select item 2734171	NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)	SLC3A1 (G140R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 568132	NM_000341.4(SLC3A1):c.430+2T>G	SLC3A1	Single nucleotide variant (splice donor variant)	Cystinuria	GLikely pathogenic
Select item 619047	NC_000002.12:g.44277853_44353364del	PREPL, SLC3A1	Deletion	Premature ovarian insufficiency	GPathogenic
Select item 1261997	NM_000341.4(SLC3A1):c.431-182G>A	SLC3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 526035	NC_000002.12:g.(?_44280696)_(44346410_?)del	PREPL, SLC3A1	Deletion	Cystinuria +1 more	GPathogenic/Likely pathogenic
Select item 1916182	NM_000341.4(SLC3A1):c.431-11T>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 584389	NC_000002.12:g.(?_44280716)_(44346390_?)del	PREPL, SLC3A1	Deletion	Myasthenic syndrome, congenital, 22	GPathogenic
Select item 2446007	NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)	SLC3A1 (Q146*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 1983970	NM_000341.4(SLC3A1):c.438A>T (p.Gln146His)	SLC3A1 (Q146H)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 898640	NM_000341.4(SLC3A1):c.439G>C (p.Asp147His)	SLC3A1 (D147H)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2734172	NM_000341.4(SLC3A1):c.452A>G (p.Tyr151Cys)	SLC3A1 (Y151C)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 336190	NM_000341.4(SLC3A1):c.460G>T (p.Ala154Ser)	SLC3A1 (A154S)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 3319786	NM_000341.4(SLC3A1):c.472A>G (p.Lys158Glu)	SLC3A1 (K158E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1710014	NM_000341.4(SLC3A1):c.478G>T (p.Val160Phe)	SLC3A1 (V160F)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 336191	NM_000341.4(SLC3A1):c.478G>C (p.Val160Leu)	SLC3A1 (V160L)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2528340	NM_000341.4(SLC3A1):c.497A>G (p.Tyr166Cys)	SLC3A1 (Y166C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3237194	NM_000341.4(SLC3A1):c.503C>A (p.Ser168Ter)	SLC3A1 (S168*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 895655	NM_000341.4(SLC3A1):c.508C>G (p.Leu170Val)	SLC3A1 (L170V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2701711	NM_000341.4(SLC3A1):c.531T>A (p.Val177=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 2436031	NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)	SLC3A1 (E178A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 18118	NM_000341.4(SLC3A1):c.542G>A (p.Arg181Gln)	SLC3A1 (R181Q)	Single nucleotide variant (missense variant)	Cystinuria	GPathogenic
Select item 1463745	NM_000341.4(SLC3A1):c.544G>A (p.Glu182Lys)	SLC3A1 (E182K)	Single nucleotide variant (missense variant)	Cystinuria	GLikely benign
Select item 2069947	NM_000341.4(SLC3A1):c.554C>T (p.Pro185Leu)	SLC3A1 (P185L)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 962290	NM_000341.4(SLC3A1):c.566C>A (p.Thr189Lys)	SLC3A1 (T189K)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 709359	NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)	SLC3A1 (T189M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1579621	NM_000341.4(SLC3A1):c.567G>C (p.Thr189=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely benign
Select item 1052978	NM_000341.4(SLC3A1):c.569T>C (p.Met190Thr)	SLC3A1 (M190T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 336192	NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly)	SLC3A1 (E191G)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 548674	NM_000341.4(SLC3A1):c.592del (p.Ala198fs)	SLC3A1 (A198fs)	Deletion (frameshift variant)	Cystinuria	GPathogenic/Likely pathogenic
Select item 895656	NM_000341.4(SLC3A1):c.597C>A (p.Ala199=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria	GUncertain significance
Select item 2920210	NM_000341.4(SLC3A1):c.610+14A>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely benign
Select item 1213345	NM_000341.4(SLC3A1):c.610+61T>C	SLC3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258963	NM_000341.4(SLC3A1):c.610+109TCCC[5]	SLC3A1	Microsatellite (intron variant)	not provided	GBenign
Select item 1203670	NM_000341.4(SLC3A1):c.610+147C>T	SLC3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226457	NM_000341.4(SLC3A1):c.610+159T>G	SLC3A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206486	NM_000341.4(SLC3A1):c.610+169C>G	SLC3A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258997	NM_000341.4(SLC3A1):c.611-212dup	SLC3A1	Duplication (intron variant)	not provided	GBenign
Select item 3338629	NM_000341.4(SLC3A1):c.611-1G>A	SLC3A1	Single nucleotide variant (splice acceptor variant)	Cystinuria	GLikely pathogenic

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