84706[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 148231	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1	ABCC11, ABCC12 +210 more	Copy number loss	See cases	GPathogenic
Select item 148087	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3	ABCC11, ABCC12 +209 more	Copy number gain	See cases	GPathogenic
Select item 59468	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1	ABCC11, ABCC12 +202 more	Copy number loss	See cases	GPathogenic
Select item 59467	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1	ABCC11, ABCC12 +204 more	Copy number loss	See cases	GPathogenic
Select item 59486	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1	ABCC11, ABCC12 +209 more	Copy number loss	See cases	GPathogenic
Select item 2399132	NM_133443.4(GPT2):c.32G>T (p.Gly11Val)	GPT2 (G11V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2572428	NM_133443.4(GPT2):c.58del (p.Trp20fs)	GPT2 (W20fs)	Deletion (5 prime UTR variant +1 more)	Glutamate pyruvate transaminase 2 deficiency	GLikely pathogenic
Select item 3102095	NM_133443.4(GPT2):c.65G>A (p.Arg22His)	GPT2 (R22H)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 522105	NM_133443.4(GPT2):c.70C>T (p.Gln24Ter)	GPT2 (Q24*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 3102096	NM_133443.4(GPT2):c.89A>C (p.Glu30Ala)	GPT2 (E30A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364031	NM_133443.4(GPT2):c.94T>G (p.Ser32Ala)	GPT2 (S32A)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 280442	NM_133443.4(GPT2):c.181G>T (p.Glu61Ter)	GPT2 (E61*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2921252	NM_133443.4(GPT2):c.217G>A (p.Gly73Ser)	GPT2 (G73S)	Single nucleotide variant (5 prime UTR variant +1 more)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 1328699	NM_133443.4(GPT2):c.225CGAGCT[3] (p.76EL[3])	GPT2	Microsatellite (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2257374	NM_133443.4(GPT2):c.232G>C (p.Glu78Gln)	GPT2 (E78Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 691768	NM_133443.4(GPT2):c.266A>G (p.Glu89Gly)	GPT2 (E89G)	Single nucleotide variant (5 prime UTR variant +1 more)	Frequent falls +3 more	GUncertain significance
Select item 978392	NM_133443.4(GPT2):c.269del (p.Val90fs)	GPT2 (V90fs)	Deletion (5 prime UTR variant +1 more)	Rare genetic intellectual disability	GLikely pathogenic
Select item 1324512	NM_133443.4(GPT2):c.274C>T (p.Arg92Ter)	GPT2 (R92*)	Single nucleotide variant (5 prime UTR variant +1 more)	Glutamate pyruvate transaminase 2 deficiency	GLikely pathogenic
Select item 1339470	NM_133443.4(GPT2):c.286G>A (p.Gly96Arg)	GPT2 (G96R)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 3025689	NM_133443.4(GPT2):c.288G>A (p.Gly96=)	GPT2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3069205	NM_133443.4(GPT2):c.306del (p.Gln103fs)	GPT2 (Q103fs +1 more)	Deletion (frameshift variant +1 more)	Glutamate pyruvate transaminase 2 deficiency	GPathogenic
Select item 1805209	NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)	GPT2 (R10W +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency +1 more	GUncertain significance
Select item 2572609	NM_133443.4(GPT2):c.333+2T>G	GPT2	Single nucleotide variant (splice donor variant)	Glutamate pyruvate transaminase 2 deficiency	GLikely pathogenic
Select item 735183	NM_133443.4(GPT2):c.334-3C>T	GPT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730017	NM_133443.4(GPT2):c.343C>T (p.Leu115=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1031604	NM_133443.4(GPT2):c.371G>C (p.Ser124Thr)	GPT2 (S24T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3045890	NM_133443.4(GPT2):c.375C>T (p.Pro125=)	GPT2	Single nucleotide variant (synonymous variant)	GPT2-related disorder	GLikely benign
Select item 983537	NM_133443.4(GPT2):c.400C>T (p.Arg134Cys)	GPT2 (R134C +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GPathogenic
Select item 2259062	NM_133443.4(GPT2):c.409C>T (p.Arg137Trp)	GPT2 (R137W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039119	NM_133443.4(GPT2):c.418C>A (p.Gln140Lys)	GPT2 (Q140K +1 more)	Single nucleotide variant (missense variant)	GPT2-related disorder	GLikely benign
Select item 2498661	NM_133443.4(GPT2):c.429C>T (p.Gly143=)	GPT2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 187856	NM_133443.4(GPT2):c.459C>G (p.Ser153Arg)	GPT2 (S153R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 712974	NM_133443.4(GPT2):c.468C>T (p.Val156=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031605	NM_133443.4(GPT2):c.478C>T (p.Arg160Cys)	GPT2 (R160C +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 1303628	NM_133443.4(GPT2):c.487G>A (p.Val163Met)	GPT2 (V163M +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency +1 more	GUncertain significance
Select item 782015	NM_133443.4(GPT2):c.510G>A (p.Arg170=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 748258	NM_133443.4(GPT2):c.516C>T (p.Gly172=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455852	NM_133443.4(GPT2):c.545A>T (p.Tyr182Phe)	GPT2 (Y82F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1031115	NM_133443.4(GPT2):c.589A>G (p.Ile197Val)	GPT2 (I197V +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 3102094	NM_133443.4(GPT2):c.595G>A (p.Val199Ile)	GPT2 (V199I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672632	NM_133443.4(GPT2):c.600C>T (p.Ser200=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2662738	NM_133443.4(GPT2):c.630_631delinsTT (p.Met210_Ile211delinsIlePhe)	GPT2	Indel (missense variant)	not provided	GUncertain significance
Select item 737994	NM_133443.4(GPT2):c.681C>T (p.Asp227=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 782016	NM_133443.4(GPT2):c.726G>A (p.Ala242=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509804	NM_133443.4(GPT2):c.745C>T (p.Arg249Trp)	GPT2 (R149W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 983542	NM_133443.4(GPT2):c.775T>C (p.Cys259Arg)	GPT2 (C259R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983541	NM_133443.4(GPT2):c.812A>C (p.Asn271Thr)	GPT2 (N271T +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GPathogenic
Select item 254656	NM_133443.4(GPT2):c.815C>T (p.Pro272Leu)	GPT2 (P272L +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 1805495	NM_133443.4(GPT2):c.839A>G (p.Lys280Arg)	GPT2 (K180R +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 996735	NM_133443.4(GPT2):c.844A>G (p.Ile282Val)	GPT2 (I182V +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 748960	NM_133443.4(GPT2):c.882C>G (p.Leu294=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805242	NM_133443.4(GPT2):c.886C>T (p.Leu296Phe)	GPT2 (L196F +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 787443	NM_133443.4(GPT2):c.900+6A>C	GPT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 718571	NM_133443.4(GPT2):c.915C>T (p.Asn305=)	GPT2, LOC130058930	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2572611	NM_133443.4(GPT2):c.924_925del (p.Pro309fs)	GPT2, LOC130058930 (P209fs +1 more)	Microsatellite (frameshift variant)	Glutamate pyruvate transaminase 2 deficiency	GLikely pathogenic
Select item 3061898	NM_133443.4(GPT2):c.971G>A (p.Gly324Glu)	GPT2, LOC130058930 (G224E +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 1675622	NM_133443.4(GPT2):c.975C>T (p.Pro325=)	GPT2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2607025	NM_133443.4(GPT2):c.990C>G (p.Asn330Lys)	GPT2 (N330K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 728688	NM_133443.4(GPT2):c.1017C>T (p.Thr339=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1706442	NM_133443.4(GPT2):c.1035C>T (p.Gly345=)	GPT2	Single nucleotide variant (synonymous variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 1695575	NM_133443.4(GPT2):c.1036G>A (p.Glu346Lys)	GPT2 (E246K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810308	NM_133443.4(GPT2):c.1037+5G>C	GPT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 997801	NM_133443.4(GPT2):c.1037+5G>A	GPT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3102090	NM_133443.4(GPT2):c.1065G>C (p.Glu355Asp)	GPT2 (E355D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 737547	NM_133443.4(GPT2):c.1083T>G (p.Pro361=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764060	NM_133443.4(GPT2):c.1113G>C (p.Leu371=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585589	NM_133443.4(GPT2):c.1120C>T (p.Arg374Cys)	GPT2 (R374C +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 1254563	NM_133443.4(GPT2):c.1133dup (p.Val379fs)	GPT2 (V279fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 746704	NM_133443.4(GPT2):c.1134A>C (p.Pro378=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753929	NM_133443.4(GPT2):c.1149C>T (p.Ala383=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 72070	NM_133443.4(GPT2):c.1172C>T (p.Pro391Leu)	GPT2 (P291L +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GConflicting classifications of pathogenicity
Select item 988735	NM_133443.4(GPT2):c.1177dup (p.Val393fs)	GPT2 (V293fs +1 more)	Duplication (frameshift variant)	Glutamate pyruvate transaminase 2 deficiency	GLikely pathogenic
Select item 916089	NM_133443.4(GPT2):c.1175C>T (p.Pro392Leu)	GPT2 (P292L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 778503	NM_133443.4(GPT2):c.1176G>C (p.Pro392=)	GPT2	Single nucleotide variant (synonymous variant)	GPT2-related disorder +1 more	GBenign
Select item 734196	NM_133443.4(GPT2):c.1176G>T (p.Pro392=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 723424	NM_133443.4(GPT2):c.1198G>C (p.Glu400Gln)	GPT2 (E400Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 740723	NM_133443.4(GPT2):c.1203A>G (p.Gln401=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 254655	NM_133443.4(GPT2):c.1210C>T (p.Arg404Ter)	GPT2 (R404* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1722326	NM_133443.4(GPT2):c.1213-3C>G	GPT2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 2275129	NM_133443.4(GPT2):c.1222T>C (p.Ser408Pro)	GPT2 (S308P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374032	NM_133443.4(GPT2):c.1223C>T (p.Ser408Leu)	GPT2 (S308L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779164	NM_133443.4(GPT2):c.1260G>A (p.Thr420=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 726268	NM_133443.4(GPT2):c.1264G>T (p.Asp422Tyr)	GPT2 (D322Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 718832	NM_133443.4(GPT2):c.1284A>G (p.Pro428=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3102091	NM_133443.4(GPT2):c.1307A>C (p.Gln436Pro)	GPT2 (Q336P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3102092	NM_133443.4(GPT2):c.1343C>T (p.Pro448Leu)	GPT2 (P348L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2646489	NM_133443.4(GPT2):c.1354G>A (p.Val452Met)	GPT2 (V352M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2683362	NM_133443.4(GPT2):c.1357G>A (p.Glu453Lys)	GPT2 (E353K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2221847	NM_133443.4(GPT2):c.1369-3T>C	GPT2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 745372	NM_133443.4(GPT2):c.1413G>A (p.Leu471=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628776	NM_133443.4(GPT2):c.1422_1423del (p.Gly475fs)	GPT2 (G375fs +1 more)	Deletion (frameshift variant)	GPT2-related disorder	GLikely pathogenic
Select item 983539	NM_133443.4(GPT2):c.1432_1433del (p.Val478fs)	GPT2 (V378fs +1 more)	Microsatellite (frameshift variant)	Glutamate pyruvate transaminase 2 deficiency	GPathogenic
Select item 795088	NM_133443.4(GPT2):c.1434C>T (p.Val478=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 983538	NM_133443.4(GPT2):c.1435G>A (p.Val479Met)	GPT2 (V479M +1 more)	Single nucleotide variant (missense variant)	Glutamate pyruvate transaminase 2 deficiency	GPathogenic
Select item 1701973	NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser)	GPT2 (G381S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 73 +1 more	GConflicting classifications of pathogenicity
Select item 2672633	NM_133443.4(GPT2):c.1461G>A (p.Arg487=)	GPT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805491	NM_133443.4(GPT2):c.1481+3del	GPT2	Deletion (intron variant)	Glutamate pyruvate transaminase 2 deficiency	GUncertain significance
Select item 2646490	NM_133443.4(GPT2):c.1482-6T>C	GPT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2589038	NM_133443.4(GPT2):c.1517C>T (p.Thr506Met)	GPT2 (T506M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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