Gpt Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)

206 records found for search term Gpt

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
15194131	CV775316	single nucleotide variant	NM_005309.3(GPT):c.956+9G>A	not provided [RCV000933556]	likely benign	8	144506140	144506140	Human		name
15202677	CV759627	single nucleotide variant	NM_005309.3(GPT):c.252+10C>T	not provided [RCV000913502]	likely benign	8	144504703	144504703	Human		name
15203332	CV759628	single nucleotide variant	NM_005309.3(GPT):c.1287+8G>A	not provided [RCV000913876]	benign	8	144506664	144506664	Human		name
156226091	CV2115235	deletion	NM_005309.3(GPT):c.739+43_739+84del	not provided [RCV002918756]	uncertain significance	8	144505491	144505532	Human		name
156392963	CV2385508	single nucleotide variant	NM_005309.3(GPT):c.22C>T (p.Arg8Trp)	not specified [RCV004233153]	uncertain significance	8	144504326	144504326	Human		name
15184868	CV722950	single nucleotide variant	NM_005309.3(GPT):c.174G>A (p.Lys58=)	not provided [RCV000886544]	likely benign	8	144504615	144504615	Human		name
15164513	CV722951	single nucleotide variant	NM_005309.3(GPT):c.231G>A (p.Arg77=)	not provided [RCV000882210]	benign	8	144504672	144504672	Human		name
329384983	CV2435104	single nucleotide variant	NM_005309.3(GPT):c.92G>A (p.Arg31Gln)	not specified [RCV004252749]	uncertain significance	8	144504396	144504396	Human		name
8565409	CV31127	single nucleotide variant	NM_005309.3(GPT):c.40C>G (p.His14Asp)	GPT POLYMORPHISM [RCV000017468]	benign	8	144504344	144504344	Human		name , trait
405756182	CV3252335	single nucleotide variant	NM_005309.3(GPT):c.35T>A (p.Val12Glu)	not specified [RCV004393491]	uncertain significance	8	144504339	144504339	Human		name
405756214	CV3252340	single nucleotide variant	NM_005309.3(GPT):c.86G>A (p.Arg29His)	not specified [RCV004393496]	uncertain significance	8	144504390	144504390	Human		name
15167098	CV711410	single nucleotide variant	NM_005309.3(GPT):c.600C>T (p.Gly200=)	not provided [RCV000971327]	benign	8	144505350	144505350	Human		name
15165258	CV722949	single nucleotide variant	NM_005309.3(GPT):c.32C>A (p.Ala11Glu)	not provided [RCV000882373]	likely benign	8	144504336	144504336	Human	5	name
15165258	CV722949	single nucleotide variant	NM_005309.3(GPT):c.32C>A (p.Ala11Glu)	not provided [RCV000882373]	likely benign	8	144504336	144504337	Human	5	name
15108112	CV722952	single nucleotide variant	NM_005309.3(GPT):c.327G>A (p.Glu109=)	not provided [RCV000893607]	likely benign	8	144504845	144504845	Human		name
15131552	CV736543	single nucleotide variant	NM_005309.3(GPT):c.306C>T (p.Asp102=)	not provided [RCV000897795]	likely benign	8	144504824	144504824	Human		name
15114045	CV736545	single nucleotide variant	NM_005309.3(GPT):c.840C>T (p.Tyr280=)	not provided [RCV000894782]	likely benign	8	144506015	144506015	Human		name
15129890	CV751018	single nucleotide variant	NM_005309.3(GPT):c.381C>T (p.Ser127=)	not provided [RCV000919908]	likely benign	8	144505017	144505017	Human		name
15153745	CV751019	single nucleotide variant	NM_005309.3(GPT):c.441C>T (p.Ile147=)	not provided [RCV000924117]	likely benign	8	144505077	144505077	Human		name
15111491	CV751020	single nucleotide variant	NM_005309.3(GPT):c.567C>T (p.Tyr189=)	not provided [RCV000916739]	likely benign	8	144505317	144505317	Human		name
156271249	CV2237152	single nucleotide variant	NM_005309.3(GPT):c.110T>C (p.Val37Ala)	not specified [RCV004114897]	uncertain significance	8	144504414	144504414	Human		name
155925775	CV2258618	single nucleotide variant	NM_005309.3(GPT):c.158G>A (p.Arg53His)	not specified [RCV004116090]	uncertain significance	8	144504462	144504462	Human		name
156141961	CV2260633	single nucleotide variant	NM_005309.3(GPT):c.260C>T (p.Ala87Val)	not specified [RCV004123392]	uncertain significance	8	144504778	144504778	Human		name
156101605	CV2352191	single nucleotide variant	NM_005309.3(GPT):c.193C>T (p.Arg65Cys)	not specified [RCV004200676]	uncertain significance	8	144504634	144504634	Human		name
155953971	CV2379107	single nucleotide variant	NM_005309.3(GPT):c.113G>A (p.Arg38His)	not specified [RCV004235906]	uncertain significance	8	144504417	144504417	Human		name
405756174	CV3252334	single nucleotide variant	NM_005309.3(GPT):c.205G>A (p.Gly69Arg)	not specified [RCV004393490]	uncertain significance	8	144504646	144504646	Human		name
407526975	CV3436908	single nucleotide variant	NM_005309.3(GPT):c.280C>T (p.Leu94Phe)	not specified [RCV004632639]	uncertain significance	8	144504798	144504798	Human		name
598234311	CV3967526	single nucleotide variant	NM_005309.3(GPT):c.157C>T (p.Arg53Cys)	not specified [RCV005342890]	uncertain significance	8	144504461	144504461	Human		name
15120199	CV783050	single nucleotide variant	NM_005309.3(GPT):c.1434G>A (p.Arg478=)	not provided [RCV000979251]	likely benign	8	144506943	144506943	Human		name
156032965	CV2214558	single nucleotide variant	NM_005309.3(GPT):c.539C>T (p.Thr180Met)	not specified [RCV004088606]	uncertain significance	8	144505289	144505289	Human		name
156153211	CV2328511	single nucleotide variant	NM_005309.3(GPT):c.800T>C (p.Leu267Pro)	not specified [RCV004175886]	uncertain significance	8	144505908	144505908	Human		name
156050786	CV2391193	single nucleotide variant	NM_005309.3(GPT):c.493G>A (p.Val165Met)	not specified [RCV004237211]	uncertain significance	8	144505129	144505129	Human		name
401749773	CV2719395	single nucleotide variant	NM_005309.3(GPT):c.757G>A (p.Glu253Lys)	not specified [RCV004325016]	uncertain significance	8	144505865	144505865	Human		name
401761521	CV2726801	single nucleotide variant	NM_005309.3(GPT):c.751A>C (p.Thr251Pro)	not specified [RCV004323112]	uncertain significance	8	144505859	144505859	Human		name
401729472	CV2733077	single nucleotide variant	NM_005309.3(GPT):c.329G>A (p.Arg110His)	not specified [RCV004332011]	uncertain significance	8	144504847	144504847	Human		name
405756187	CV3252336	single nucleotide variant	NM_005309.3(GPT):c.536G>A (p.Arg179His)	not specified [RCV004393492]	uncertain significance	8	144505286	144505286	Human		name
405756194	CV3252337	single nucleotide variant	NM_005309.3(GPT):c.737C>T (p.Thr246Ile)	not specified [RCV004393493]	uncertain significance	8	144505487	144505487	Human		name
405756201	CV3252338	single nucleotide variant	NM_005309.3(GPT):c.748C>A (p.Gln250Lys)	not specified [RCV004393494]	uncertain significance	8	144505856	144505856	Human		name
405756208	CV3252339	single nucleotide variant	NM_005309.3(GPT):c.835G>C (p.Val279Leu)	not specified [RCV004393495]	uncertain significance	8	144506010	144506010	Human		name
405756220	CV3252341	single nucleotide variant	NM_005309.3(GPT):c.968G>A (p.Arg323His)	not specified [RCV004393497]	uncertain significance	8	144506243	144506243	Human		name
405756226	CV3252342	single nucleotide variant	NM_005309.3(GPT):c.968G>C (p.Arg323Pro)	not specified [RCV004393498]	uncertain significance	8	144506243	144506243	Human		name
407526969	CV3436905	single nucleotide variant	NM_005309.3(GPT):c.373G>A (p.Val125Ile)	not specified [RCV004632637]	likely benign	8	144505009	144505009	Human		name
407526972	CV3436907	single nucleotide variant	NM_005309.3(GPT):c.497C>T (p.Thr166Met)	not specified [RCV004632638]	uncertain significance	8	144505247	144505247	Human		name
407526978	CV3436909	single nucleotide variant	NM_005309.3(GPT):c.980T>C (p.Val327Ala)	not specified [RCV004632640]	uncertain significance	8	144506255	144506255	Human		name
407526980	CV3436910	single nucleotide variant	NM_005309.3(GPT):c.686G>A (p.Arg229His)	not specified [RCV004632641]	uncertain significance	8	144505436	144505436	Human		name
597770142	CV3681831	single nucleotide variant	NM_005309.3(GPT):c.368A>G (p.Tyr123Cys)	not specified [RCV004928244]	uncertain significance	8	144505004	144505004	Human		name
597745946	CV3681833	single nucleotide variant	NM_005309.3(GPT):c.797G>A (p.Arg266Gln)	not specified [RCV004922596]	uncertain significance	8	144505905	144505905	Human		name
597770151	CV3681835	single nucleotide variant	NM_005309.3(GPT):c.529C>T (p.His177Tyr)	not specified [RCV004928246]	uncertain significance	8	144505279	144505279	Human		name
598187021	CV3967524	single nucleotide variant	NM_005309.3(GPT):c.697C>T (p.Arg233Cys)	not specified [RCV005353619]	likely benign	8	144505447	144505447	Human		name
598234305	CV3967525	single nucleotide variant	NM_005309.3(GPT):c.944G>A (p.Gly315Asp)	not specified [RCV005342889]	uncertain significance	8	144506119	144506119	Human		name
15185991	CV700485	single nucleotide variant	NM_005309.3(GPT):c.320G>A (p.Arg107Lys)	not provided [RCV000953147]	benign	8	144504838	144504838	Human		name
15193538	CV700486	single nucleotide variant	NM_005309.3(GPT):c.676G>T (p.Gly226Cys)	not provided [RCV000955399]	likely benign	8	144505426	144505426	Human		name
15125890	CV711411	single nucleotide variant	NM_005309.3(GPT):c.796C>G (p.Arg266Gly)	not provided [RCV000963655]	benign	8	144505904	144505904	Human		name
15175176	CV736544	single nucleotide variant	NM_005309.3(GPT):c.766G>C (p.Glu256Gln)	not provided [RCV000906151]	likely benign	8	144505874	144505874	Human		name
15106607	CV783049	single nucleotide variant	NM_005309.3(GPT):c.592G>C (p.Glu198Gln)	not provided [RCV000976662]	likely benign	8	144505342	144505342	Human		name
156318788	CV2200385	single nucleotide variant	NM_005309.3(GPT):c.1378C>T (p.Arg460Trp)	not specified [RCV004076708]	uncertain significance	8	144506821	144506821	Human		name
156031754	CV2202788	single nucleotide variant	NM_005309.3(GPT):c.1211G>A (p.Ser404Asn)	not specified [RCV004083025]	uncertain significance	8	144506580	144506580	Human		name
156401604	CV2207457	single nucleotide variant	NM_005309.3(GPT):c.1324C>T (p.Arg442Cys)	not specified [RCV004089941]	uncertain significance	8	144506767	144506767	Human		name
155916130	CV2239660	single nucleotide variant	NM_005309.3(GPT):c.1267C>T (p.Arg423Trp)	not specified [RCV004108210]	uncertain significance	8	144506636	144506636	Human		name
156258776	CV2304887	single nucleotide variant	NM_005309.3(GPT):c.1432C>T (p.Arg478Trp)	not specified [RCV004168807]	uncertain significance	8	144506941	144506941	Human		name
156153017	CV2307681	single nucleotide variant	NM_005309.3(GPT):c.1340C>A (p.Thr447Asn)	not specified [RCV004168093]	uncertain significance	8	144506783	144506783	Human		name
156307346	CV2312281	single nucleotide variant	NM_005309.3(GPT):c.1090C>T (p.Pro364Ser)	not specified [RCV004166994]	uncertain significance	8	144506365	144506365	Human		name
156250678	CV2359154	single nucleotide variant	NM_005309.3(GPT):c.1262C>A (p.Pro421His)	not specified [RCV004214511]	uncertain significance	8	144506631	144506631	Human		name
156170476	CV2380596	single nucleotide variant	NM_005309.3(GPT):c.1252G>A (p.Val418Met)	not specified [RCV004224916]	uncertain significance	8	144506621	144506621	Human		name
401782188	CV2686580	single nucleotide variant	NM_005309.3(GPT):c.1097C>T (p.Ala366Val)	not specified [RCV004300009]	uncertain significance	8	144506372	144506372	Human		name
401861117	CV2769521	single nucleotide variant	NM_005309.3(GPT):c.1096G>A (p.Ala366Thr)	not specified [RCV004351179]	uncertain significance	8	144506371	144506371	Human		name
401888007	CV2781835	single nucleotide variant	NM_005309.3(GPT):c.1093C>A (p.Pro365Thr)	not specified [RCV004356787]	uncertain significance	8	144506368	144506368	Human		name
405756130	CV3252327	single nucleotide variant	NM_005309.3(GPT):c.1102A>T (p.Thr368Ser)	not specified [RCV004393483]	likely benign	8	144506377	144506377	Human		name
405756136	CV3252328	single nucleotide variant	NM_005309.3(GPT):c.1118C>T (p.Ala373Val)	not specified [RCV004393484]	uncertain significance	8	144506393	144506393	Human		name
405756144	CV3252329	single nucleotide variant	NM_005309.3(GPT):c.1193A>G (p.Asn398Ser)	not specified [RCV004393485]	uncertain significance	8	144506562	144506562	Human		name
405756149	CV3252330	single nucleotide variant	NM_005309.3(GPT):c.1285C>G (p.Gln429Glu)	not specified [RCV004393486]	uncertain significance	8	144506654	144506654	Human		name
405756155	CV3252331	single nucleotide variant	NM_005309.3(GPT):c.1399C>T (p.Arg467Trp)	not specified [RCV004393487]	uncertain significance	8	144506842	144506842	Human		name
405756160	CV3252332	single nucleotide variant	NM_005309.3(GPT):c.1430T>C (p.Leu477Pro)	not specified [RCV004393488]	uncertain significance	8	144506939	144506939	Human		name
405756169	CV3252333	single nucleotide variant	NM_005309.3(GPT):c.1433G>A (p.Arg478Gln)	not specified [RCV004393489]	uncertain significance	8	144506942	144506942	Human		name
407504221	CV3436906	single nucleotide variant	NM_005309.3(GPT):c.1274T>C (p.Val425Ala)	not specified [RCV004624015]	uncertain significance	8	144506643	144506643	Human		name
407526983	CV3436911	single nucleotide variant	NM_005309.3(GPT):c.1442T>C (p.Leu481Pro)	not specified [RCV004632642]	uncertain significance	8	144506951	144506951	Human		name
597745941	CV3681828	single nucleotide variant	NM_005309.3(GPT):c.1268G>C (p.Arg423Pro)	not specified [RCV004922595]	uncertain significance	8	144506637	144506637	Human		name
597770132	CV3681829	single nucleotide variant	NM_005309.3(GPT):c.1466C>T (p.Ala489Val)	not specified [RCV004928242]	uncertain significance	8	144506975	144506975	Human		name
597770137	CV3681830	single nucleotide variant	NM_005309.3(GPT):c.1178C>T (p.Thr393Ile)	not specified [RCV004928243]	uncertain significance	8	144506547	144506547	Human		name
597770146	CV3681832	single nucleotide variant	NM_005309.3(GPT):c.1243T>C (p.Phe415Leu)	not specified [RCV004928245]	uncertain significance	8	144506612	144506612	Human		name
597745951	CV3681834	single nucleotide variant	NM_005309.3(GPT):c.1439T>G (p.Leu480Arg)	not specified [RCV004922597]	uncertain significance	8	144506948	144506948	Human		name
15197826	CV722953	single nucleotide variant	NM_005309.3(GPT):c.1288G>C (p.Glu430Gln)	not provided [RCV000890174]	benign\|likely benign	8	144506731	144506732	Human	1	name
15197826	CV722953	single nucleotide variant	NM_005309.3(GPT):c.1288G>C (p.Glu430Gln)	not provided [RCV000890174]	benign\|likely benign	8	144506731	144506731	Human	1	name
15197829	CV722954	single nucleotide variant	NM_005309.3(GPT):c.1354G>C (p.Val452Leu)	not provided [RCV000890175]	benign\|likely benign	8	144506797	144506797	Human	3	name
15194637	CV766664	single nucleotide variant	NM_005309.3(GPT):c.1280G>A (p.Arg427His)	not provided [RCV000933701]	likely benign	8	144506649	144506649	Human		name
598127664	CV3888276	duplication	NM_005309.3(GPT):c.773_779dup (p.Phe261fs)	not provided [RCV005242962]	uncertain significance	8	144505877	144505878	Human		name
401722819	CV2737553	single nucleotide variant	NM_133443.4(GPT2):c.333+2T>G	Glutamate pyruvate transaminase 2 deficiency [RCV003314494]	likely pathogenic	16	46897739	46897739	Human	1	name
15192935	CV744859	single nucleotide variant	NM_133443.4(GPT2):c.334-3C>T	Intellectual disability [RCV001252247]\|not provided [RCV000910692]	likely benign	16	46900679	46900679	Human	2	name
15159251	CV779885	single nucleotide variant	NM_133443.4(GPT2):c.900+6A>C	not provided [RCV000969675]	benign	16	46916713	46916713	Human		name
155741161	CV1779836	single nucleotide variant	NM_133443.4(GPT2):c.1213-3C>G	not provided [RCV002302440]	not provided	16	46924386	46924386	Human		name
155799465	CV1862503	deletion	NM_133443.4(GPT2):c.1481+3del	Glutamate pyruvate transaminase 2 deficiency [RCV002471909]	uncertain significance	16	46927040	46927040	Human	1	name
155934104	CV1867309	single nucleotide variant	NM_133443.4(GPT2):c.1037+5G>C	GPT2-related neurodevelopmental disorder [RCV002509012]\|Inborn genetic diseases [RCV002569420]	uncertain significance\|not provided	16	46918762	46918762	Human	2	name , trait
156401802	CV2217775	single nucleotide variant	NM_133443.4(GPT2):c.1369-3T>C	Inborn genetic diseases [RCV002657126]	uncertain significance	16	46926922	46926922	Human	1	name
401934475	CV2807904	single nucleotide variant	NM_133443.4(GPT2):c.1482-6T>C	not provided [RCV003411343]	likely benign	16	46928901	46928901	Human		name
42723545	CV985519	single nucleotide variant	NM_133443.4(GPT2):c.1037+5G>A	Glutamate pyruvate transaminase 2 deficiency [RCV001293354]\|not provided [RCV003151848]	uncertain significance	16	46918762	46918762	Human	1	name
329351862	CV2476638	single nucleotide variant	NM_133443.4(GPT2):c.429C>T (p.Gly143=)	GPT2-related disorder [RCV003919035]\|not provided [RCV003222870]	benign	16	46900777	46900777	Human	1	name , trait , alternate_id
401934758	CV2800493	deletion	NM_133443.4(GPT2):c.1422_1423del (p.Gly475fs)	GPT2-related disorder [RCV003412006]	likely pathogenic	16	46926978	46926979	Human		name , trait , alternate_id
405294529	CV3208764	single nucleotide variant	NM_133443.4(GPT2):c.375C>T (p.Pro125=)	GPT2-related disorder [RCV003934441]	likely benign	16	46900723	46900723	Human		name , trait , alternate_id
405272922	CV3210220	single nucleotide variant	NM_133443.4(GPT2):c.418C>A (p.Gln140Lys)	GPT2-related disorder [RCV003914455]\|Inborn genetic diseases [RCV005353325]	likely benign	16	46900766	46900766	Human	2	name , trait , alternate_id
15101752	CV703693	single nucleotide variant	NM_133443.4(GPT2):c.1176G>C (p.Pro392=)	GPT2-related disorder [RCV003935908]\|not provided [RCV000959154]	benign	16	46922380	46922380	Human	1	name , trait , alternate_id
15167942	CV740196	single nucleotide variant	NM_133443.4(GPT2):c.343C>T (p.Leu115=)	GPT2-related disorder [RCV004749527]\|not provided [RCV000904751]	benign	16	46900691	46900691	Human	1	name , trait , alternate_id
401722673	CV2737374	deletion	NM_133443.4(GPT2):c.58del (p.Trp20fs)	Glutamate pyruvate transaminase 2 deficiency [RCV003314313]	likely pathogenic	16	46884773	46884773	Human	1	name
405260979	CV3186001	single nucleotide variant	NM_133443.4(GPT2):c.288G>A (p.Gly96=)	not provided [RCV003885077]	likely benign	16	46897692	46897692	Human		name
8635814	CV91037	single nucleotide variant	NM_133443.2(GPT2):c.270C>T (p.Val90=)	Malignant melanoma [RCV000071135]	not provided	16	46897674	46897674	Human		name
152080690	CV1667006	single nucleotide variant	NM_133443.4(GPT2):c.975C>T (p.Pro325=)	Inborn genetic diseases [RCV004047192]\|not provided [RCV002211351]	likely benign	16	46918695	46918695	Human	1	name
155905554	CV2349798	single nucleotide variant	NM_133443.4(GPT2):c.94T>G (p.Ser32Ala)	Inborn genetic diseases [RCV002990424]	uncertain significance	16	46884809	46884809	Human	1	name
155953865	CV2379094	single nucleotide variant	NM_133443.4(GPT2):c.32G>T (p.Gly11Val)	Inborn genetic diseases [RCV002753324]	uncertain significance	16	46884747	46884747	Human	1	name
401944499	CV2840152	single nucleotide variant	NM_133443.4(GPT2):c.600C>T (p.Ser200=)	not provided [RCV003457251]	likely benign	16	46909707	46909707	Human		name
405756266	CV3252348	single nucleotide variant	NM_133443.4(GPT2):c.65G>A (p.Arg22His)	Inborn genetic diseases [RCV004393504]	uncertain significance	16	46884780	46884780	Human	1	name
405756273	CV3252349	single nucleotide variant	NM_133443.4(GPT2):c.89A>C (p.Glu30Ala)	Inborn genetic diseases [RCV004393505]	uncertain significance	16	46884804	46884804	Human	1	name
405871742	CV3398047	single nucleotide variant	NM_133443.4(GPT2):c.981C>T (p.Tyr327=)	not provided [RCV004575047]	likely benign	16	46918701	46918701	Human		name
407526986	CV3436912	single nucleotide variant	NM_133443.4(GPT2):c.90G>C (p.Glu30Asp)	Inborn genetic diseases [RCV004632643]	uncertain significance	16	46884805	46884805	Human	1	name
598187035	CV3967529	single nucleotide variant	NM_133443.4(GPT2):c.38G>A (p.Gly13Asp)	Inborn genetic diseases [RCV005353622]	uncertain significance	16	46884753	46884753	Human	1	name
13530571	CV512212	single nucleotide variant	NM_133443.4(GPT2):c.70C>T (p.Gln24Ter)	Glutamate pyruvate transaminase 2 deficiency [RCV001030779]\|Inborn genetic diseases [RCV000622602]	pathogenic	16	46884785	46884785	Human	2	name
15124001	CV714919	single nucleotide variant	NM_133443.4(GPT2):c.510G>A (p.Arg170=)	not provided [RCV000963342]	benign	16	46906909	46906909	Human		name
15124008	CV714920	single nucleotide variant	NM_133443.4(GPT2):c.726G>A (p.Ala242=)	not provided [RCV000963343]	benign	16	46909833	46909833	Human		name
15178343	CV726641	single nucleotide variant	NM_133443.4(GPT2):c.468C>T (p.Val156=)	not provided [RCV000885039]	likely benign	16	46906867	46906867	Human		name
15097628	CV726642	single nucleotide variant	NM_133443.4(GPT2):c.915C>T (p.Asn305=)	not provided [RCV000891546]	likely benign	16	46918635	46918635	Human		name
15158292	CV755188	single nucleotide variant	NM_133443.4(GPT2):c.516C>T (p.Gly172=)	not provided [RCV000925039]	likely benign	16	46906915	46906915	Human		name
15203293	CV755189	single nucleotide variant	NM_133443.4(GPT2):c.681C>T (p.Asp227=)	not provided [RCV000913836]	benign	16	46909788	46909788	Human		name
15161934	CV755190	single nucleotide variant	NM_133443.4(GPT2):c.882C>G (p.Leu294=)	not provided [RCV000925788]	likely benign	16	46916689	46916689	Human		name
39456256	CV966529	deletion	NM_133443.4(GPT2):c.269del (p.Val90fs)	Rare genetic intellectual disability [RCV001257001]	likely pathogenic	16	46897673	46897673	Human		name
150542424	CV1314781	single nucleotide variant	NM_133443.4(GPT2):c.274C>T (p.Arg92Ter)	Glutamate pyruvate transaminase 2 deficiency [RCV001782232]	likely pathogenic	16	46897678	46897678	Human	1	name
151661455	CV1330569	single nucleotide variant	NM_133443.4(GPT2):c.286G>A (p.Gly96Arg)	Intellectual disability [RCV001824106]\|not provided [RCV003151866]	likely pathogenic\|uncertain significance	16	46897690	46897690	Human	2	name
155265365	CV1704753	single nucleotide variant	NM_133443.4(GPT2):c.1035C>T (p.Gly345=)	Glutamate pyruvate transaminase 2 deficiency [RCV002284979]	pathogenic\|uncertain significance	16	46918755	46918755	Human	1	name
156270036	CV2240303	single nucleotide variant	NM_133443.4(GPT2):c.232G>C (p.Glu78Gln)	Inborn genetic diseases [RCV002792414]	uncertain significance	16	46884947	46884947	Human	1	name
11633216	CV264947	single nucleotide variant	NM_133443.4(GPT2):c.181G>T (p.Glu61Ter)	not provided [RCV000318291]	pathogenic	16	46884896	46884896	Human		name
401943703	CV2840153	single nucleotide variant	NM_133443.4(GPT2):c.1461G>A (p.Arg487=)	not provided [RCV003456930]	likely benign	16	46927017	46927017	Human		name
405111386	CV3081712	single nucleotide variant	NM_133443.4(GPT2):c.217G>A (p.Gly73Ser)	Glutamate pyruvate transaminase 2 deficiency [RCV003751618]	uncertain significance	16	46884932	46884932	Human	1	name
405688395	CV3228530	deletion	NM_133443.4(GPT2):c.306del (p.Gln103fs)	Glutamate pyruvate transaminase 2 deficiency [RCV004006262]	pathogenic	16	46897707	46897707	Human	1	name
597683800	CV3681842	single nucleotide variant	NM_133443.4(GPT2):c.163C>T (p.Pro55Ser)	Inborn genetic diseases [RCV004983773]	uncertain significance	16	46884878	46884878	Human	1	name
15015006	CV679483	single nucleotide variant	NM_133443.4(GPT2):c.266A>G (p.Glu89Gly)	Aggressive behavior [RCV000853051]	uncertain significance	16	46897670	46897670	Human	2	name
15105727	CV714921	single nucleotide variant	NM_133443.4(GPT2):c.1260G>A (p.Thr420=)	not provided [RCV000959941]	benign\|likely benign	16	46924436	46924436	Human		name
15098903	CV726643	single nucleotide variant	NM_133443.4(GPT2):c.1284A>G (p.Pro428=)	not provided [RCV000891840]	likely benign	16	46924460	46924460	Human		name
15160778	CV740197	single nucleotide variant	NM_133443.4(GPT2):c.1017C>T (p.Thr339=)	not provided [RCV000903215]	benign	16	46918737	46918737	Human		name
15189216	CV740198	single nucleotide variant	NM_133443.4(GPT2):c.1176G>T (p.Pro392=)	not provided [RCV000909586]	benign\|likely benign	16	46922380	46922380	Human		name
15202086	CV755191	single nucleotide variant	NM_133443.4(GPT2):c.1083T>G (p.Pro361=)	not provided [RCV000913332]	likely benign	16	46922287	46922287	Human		name
15149680	CV755192	single nucleotide variant	NM_133443.4(GPT2):c.1134A>C (p.Pro378=)	not provided [RCV000923332]	likely benign	16	46922338	46922338	Human		name
15111919	CV755193	single nucleotide variant	NM_133443.4(GPT2):c.1203A>G (p.Gln401=)	not provided [RCV000916818]	likely benign	16	46922407	46922407	Human		name
15141781	CV755194	single nucleotide variant	NM_133443.4(GPT2):c.1413G>A (p.Leu471=)	not provided [RCV000921896]	likely benign	16	46926969	46926969	Human		name
15132222	CV770908	single nucleotide variant	NM_133443.4(GPT2):c.1113G>C (p.Leu371=)	not provided [RCV000942363]	likely benign	16	46922317	46922317	Human		name
15185970	CV770909	single nucleotide variant	NM_133443.4(GPT2):c.1149C>T (p.Ala383=)	not provided [RCV000931214]	likely benign	16	46922353	46922353	Human		name
15115393	CV785280	single nucleotide variant	NM_133443.4(GPT2):c.1434C>T (p.Val478=)	not provided [RCV000978395]	likely benign	16	46926990	46926990	Human		name
126728483	CV1018104	single nucleotide variant	NM_133443.4(GPT2):c.589A>G (p.Ile197Val)	Glutamate pyruvate transaminase 2 deficiency [RCV001332861]	uncertain significance	16	46909696	46909696	Human	1	name
126730633	CV1021468	single nucleotide variant	NM_133443.4(GPT2):c.371G>C (p.Ser124Thr)	Glutamate pyruvate transaminase 2 deficiency [RCV001333493]\|Inborn genetic diseases [RCV002546635]	uncertain significance	16	46900719	46900719	Human	2	name
126730638	CV1021469	single nucleotide variant	NM_133443.4(GPT2):c.478C>T (p.Arg160Cys)	Glutamate pyruvate transaminase 2 deficiency [RCV001333494]	uncertain significance	16	46906877	46906877	Human	1	name
150507159	CV1244496	duplication	NM_133443.4(GPT2):c.1133dup (p.Val379fs)	not provided [RCV001658745]	likely pathogenic	16	46922331	46922332	Human		name
150545696	CV1293905	single nucleotide variant	NM_133443.4(GPT2):c.487G>A (p.Val163Met)	Glutamate pyruvate transaminase 2 deficiency [RCV001799530]\|Inborn genetic diseases [RCV005350633]\|not provided [RCV001763086]	uncertain significance	16	46906886	46906886	Human	2	name
10041682	CV185748	single nucleotide variant	NM_133443.4(GPT2):c.459C>G (p.Ser153Arg)	Glutamate pyruvate transaminase 2 deficiency [RCV000167577]\|Inborn genetic diseases [RCV003162719]	pathogenic\|likely pathogenic\|not provided	16	46906858	46906858	Human	2	name
155798892	CV1862223	single nucleotide variant	NM_133443.4(GPT2):c.328C>T (p.Arg110Trp)	GPT2-related neurodevelopmental disorder [RCV002508982]\|Glutamate pyruvate transaminase 2 deficiency [RCV002471627]\|Inborn genetic diseases [RCV002573612]	uncertain significance\|not provided	16	46897732	46897732	Human	2	name , trait
155798970	CV1862256	single nucleotide variant	NM_133443.4(GPT2):c.886C>T (p.Leu296Phe)	Glutamate pyruvate transaminase 2 deficiency [RCV002471660]	uncertain significance	16	46916693	46916693	Human	1	name
155799477	CV1862507	single nucleotide variant	NM_133443.4(GPT2):c.839A>G (p.Lys280Arg)	Glutamate pyruvate transaminase 2 deficiency [RCV002471913]	uncertain significance	16	46916646	46916646	Human	1	name
156073388	CV2240695	single nucleotide variant	NM_133443.4(GPT2):c.409C>T (p.Arg137Trp)	Inborn genetic diseases [RCV002797528]	uncertain significance	16	46900757	46900757	Human	1	name
329382290	CV2424421	single nucleotide variant	NM_133443.4(GPT2):c.545A>T (p.Tyr182Phe)	Glutamate pyruvate transaminase 2 deficiency [RCV005021837]\|Inborn genetic diseases [RCV003188427]	uncertain significance	16	46906944	46906944	Human	2	name
11542161	CV249204	single nucleotide variant	NM_133443.4(GPT2):c.815C>T (p.Pro272Leu)	Glutamate pyruvate transaminase 2 deficiency [RCV000241536]	pathogenic\|uncertain significance	16	46909922	46909922	Human	1	name
401740121	CV2683264	single nucleotide variant	NM_133443.4(GPT2):c.745C>T (p.Arg249Trp)	Inborn genetic diseases [RCV003251137]	uncertain significance	16	46909852	46909852	Human	1	name
401891345	CV2779375	single nucleotide variant	NM_133443.4(GPT2):c.990C>G (p.Asn330Lys)	Inborn genetic diseases [RCV003369421]	uncertain significance	16	46918710	46918710	Human	1	name
405291164	CV3222126	single nucleotide variant	NM_133443.4(GPT2):c.971G>A (p.Gly324Glu)	Glutamate pyruvate transaminase 2 deficiency [RCV003984945]\|Inborn genetic diseases [RCV005353333]	uncertain significance	16	46918691	46918691	Human	2	name
405756260	CV3252347	single nucleotide variant	NM_133443.4(GPT2):c.595G>A (p.Val199Ile)	Inborn genetic diseases [RCV004393503]	uncertain significance	16	46909702	46909702	Human	1	name
407429165	CV3413552	single nucleotide variant	NM_133443.4(GPT2):c.518G>C (p.Gly173Ala)	Glutamate pyruvate transaminase 2 deficiency [RCV004594961]	uncertain significance	16	46906917	46906917	Human	1	name
407429166	CV3413553	single nucleotide variant	NM_133443.4(GPT2):c.935G>C (p.Arg312Thr)	Glutamate pyruvate transaminase 2 deficiency [RCV004594962]	uncertain significance	16	46918655	46918655	Human	1	name
596927310	CV3532556	single nucleotide variant	NM_133443.4(GPT2):c.500T>A (p.Ile167Asn)	not provided [RCV004778654]	uncertain significance	16	46906899	46906899	Human		name
597680962	CV3681836	single nucleotide variant	NM_133443.4(GPT2):c.836G>A (p.Arg279Lys)	Inborn genetic diseases [RCV004982754]	uncertain significance	16	46916643	46916643	Human	1	name
597680972	CV3681838	single nucleotide variant	NM_133443.4(GPT2):c.842G>A (p.Cys281Tyr)	Inborn genetic diseases [RCV004982756]	uncertain significance	16	46916649	46916649	Human	1	name
597680982	CV3681840	single nucleotide variant	NM_133443.4(GPT2):c.989A>G (p.Asn330Ser)	Inborn genetic diseases [RCV004982758]	uncertain significance	16	46918709	46918709	Human	1	name
597680986	CV3681841	single nucleotide variant	NM_133443.4(GPT2):c.410G>A (p.Arg137Gln)	Inborn genetic diseases [RCV004982759]	uncertain significance	16	46900758	46900758	Human	1	name
597680991	CV3681843	single nucleotide variant	NM_133443.4(GPT2):c.490G>T (p.Ala164Ser)	Inborn genetic diseases [RCV004982760]	uncertain significance	16	46906889	46906889	Human	1	name
598212312	CV4009032	single nucleotide variant	NM_133443.4(GPT2):c.643C>T (p.Gln215Ter)	Glutamate pyruvate transaminase 2 deficiency [RCV005400645]	likely pathogenic	16	46909750	46909750	Human	1	name
40888537	CV971605	single nucleotide variant	NM_133443.4(GPT2):c.400C>T (p.Arg134Cys)	Glutamate pyruvate transaminase 2 deficiency [RCV001263541]	pathogenic	16	46900748	46900748	Human	1	name
40888540	CV971609	single nucleotide variant	NM_133443.4(GPT2):c.812A>C (p.Asn271Thr)	Glutamate pyruvate transaminase 2 deficiency [RCV001263544]	pathogenic	16	46909919	46909919	Human	1	name
40888541	CV971610	single nucleotide variant	NM_133443.4(GPT2):c.775T>C (p.Cys259Arg)	Glutamate pyruvate transaminase 2 deficiency [RCV001263545]\|not provided [RCV001570929]	pathogenic\|uncertain significance	16	46909882	46909882	Human	1	name
40904236	CV976665	duplication	NM_133443.4(GPT2):c.1177dup (p.Val393fs)	Glutamate pyruvate transaminase 2 deficiency [RCV001270398]	likely pathogenic	16	46922379	46922380	Human	1	name
42723531	CV984410	single nucleotide variant	NM_133443.4(GPT2):c.844A>G (p.Ile282Val)	Neurodevelopmental disorder [RCV001291510]	uncertain significance	16	46916651	46916651	Human	1	name
153301939	CV1687984	single nucleotide variant	NM_133443.4(GPT2):c.1036G>A (p.Glu346Lys)	not provided [RCV002265210]	uncertain significance	16	46918756	46918756	Human		name
153347012	CV1694361	single nucleotide variant	NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser)	Glutamate pyruvate transaminase 2 deficiency [RCV002277756]\|Hereditary spastic paraplegia 73 [RCV003314037]	likely pathogenic\|conflicting interpretations of pathogenicity	16	46926997	46926997	Human	2	name
155971660	CV2262360	single nucleotide variant	NM_133443.4(GPT2):c.1222T>C (p.Ser408Pro)	Inborn genetic diseases [RCV002817760]	uncertain significance	16	46924398	46924398	Human	1	name
155929138	CV2369667	single nucleotide variant	NM_133443.4(GPT2):c.1223C>T (p.Ser408Leu)	Inborn genetic diseases [RCV002993028]	uncertain significance	16	46924399	46924399	Human	1	name
11542160	CV249203	single nucleotide variant	NM_133443.4(GPT2):c.1210C>T (p.Arg404Ter)	Glutamate pyruvate transaminase 2 deficiency [RCV000241531]\|not provided [RCV002243928]	pathogenic	16	46922414	46922414	Human	1	name
401855742	CV2753150	single nucleotide variant	NM_133443.4(GPT2):c.1120C>T (p.Arg374Cys)	Glutamate pyruvate transaminase 2 deficiency [RCV003338206]	uncertain significance	16	46922324	46922324	Human	1	name
401872547	CV2754394	single nucleotide variant	NM_133443.4(GPT2):c.1517C>T (p.Thr506Met)	Inborn genetic diseases [RCV003346855]	uncertain significance	16	46928942	46928942	Human	1	name
401934474	CV2807903	single nucleotide variant	NM_133443.4(GPT2):c.1354G>A (p.Val452Met)	not provided [RCV003411342]	likely benign	16	46924530	46924530	Human		name
401961007	CV2844387	single nucleotide variant	NM_133443.4(GPT2):c.1357G>A (p.Glu453Lys)	not provided [RCV003480182]	uncertain significance	16	46924533	46924533	Human		name
405756235	CV3252343	single nucleotide variant	NM_133443.4(GPT2):c.1065G>C (p.Glu355Asp)	Inborn genetic diseases [RCV004393499]	uncertain significance	16	46922269	46922269	Human	1	name
405756241	CV3252344	single nucleotide variant	NM_133443.4(GPT2):c.1307A>C (p.Gln436Pro)	Inborn genetic diseases [RCV004393500]	uncertain significance	16	46924483	46924483	Human	1	name
405756246	CV3252345	single nucleotide variant	NM_133443.4(GPT2):c.1343C>T (p.Pro448Leu)	Inborn genetic diseases [RCV004393501]	uncertain significance	16	46924519	46924519	Human	1	name
407526988	CV3436913	single nucleotide variant	NM_133443.4(GPT2):c.1184G>A (p.Gly395Glu)	Inborn genetic diseases [RCV004632644]	uncertain significance	16	46922388	46922388	Human	1	name
597680967	CV3681837	single nucleotide variant	NM_133443.4(GPT2):c.1135G>C (p.Val379Leu)	Inborn genetic diseases [RCV004982755]	uncertain significance	16	46922339	46922339	Human	1	name
597680977	CV3681839	single nucleotide variant	NM_133443.4(GPT2):c.1084G>C (p.Glu362Gln)	Inborn genetic diseases [RCV004982757]	uncertain significance	16	46922288	46922288	Human	1	name
597680996	CV3681844	single nucleotide variant	NM_133443.4(GPT2):c.1247A>G (p.Lys416Arg)	Inborn genetic diseases [RCV004982761]	uncertain significance	16	46924423	46924423	Human	1	name
598187026	CV3967527	single nucleotide variant	NM_133443.4(GPT2):c.1337T>C (p.Phe446Ser)	Inborn genetic diseases [RCV005353620]	uncertain significance	16	46924513	46924513	Human	1	name
598187031	CV3967528	single nucleotide variant	NM_133443.4(GPT2):c.1121G>A (p.Arg374His)	Inborn genetic diseases [RCV005353621]	uncertain significance	16	46922325	46922325	Human	1	name
598187041	CV3967530	single nucleotide variant	NM_133443.4(GPT2):c.1375C>G (p.Gln459Glu)	Inborn genetic diseases [RCV005353623]	likely benign	16	46926931	46926931	Human	1	name
598187044	CV3967531	single nucleotide variant	NM_133443.4(GPT2):c.1210C>G (p.Arg404Gly)	Inborn genetic diseases [RCV005353624]	uncertain significance	16	46922414	46922414	Human	1	name
616937859	CV4013788	single nucleotide variant	NM_133443.4(GPT2):c.1211G>T (p.Arg404Leu)	Glutamate pyruvate transaminase 2 deficiency [RCV005413280]	uncertain significance	16	46922415	46922415	Human	1	name
15156314	CV714922	single nucleotide variant	NM_133443.4(GPT2):c.1568C>T (p.Ala523Val)	not provided [RCV000969089]	benign	16	46928993	46928993	Human		name
15127882	CV740199	single nucleotide variant	NM_133443.4(GPT2):c.1198G>C (p.Glu400Gln)	Intellectual disability [RCV001252246]\|not provided [RCV000897182]	likely benign	16	46922402	46922402	Human	2	name
15147151	CV740200	single nucleotide variant	NM_133443.4(GPT2):c.1264G>T (p.Asp422Tyr)	not provided [RCV000900458]	likely benign	16	46924440	46924440	Human		name
8627817	CV82961	single nucleotide variant	NM_133443.4(GPT2):c.1172C>T (p.Pro391Leu)	Glutamate pyruvate transaminase 2 deficiency [RCV000768441]	conflicting interpretations of pathogenicity\|uncertain significance\|not provided	16	46922376	46922376	Human	1	name
34890444	CV904315	single nucleotide variant	NM_133443.4(GPT2):c.1175C>T (p.Pro392Leu)	Inborn genetic diseases [RCV004032934]\|not provided [RCV001171591]	likely pathogenic\|uncertain significance	16	46922379	46922379	Human	1	name
40888538	CV971606	single nucleotide variant	NM_133443.4(GPT2):c.1435G>A (p.Val479Met)	Glutamate pyruvate transaminase 2 deficiency [RCV001263542]	pathogenic	16	46926991	46926991	Human	1	name
126730377	CV986077	single nucleotide variant	NM_133443.4(GPT2):c.1306C>T (p.Gln436Ter)	Mental retardation, autosomal recessive 49 [RCV001294139]	pathogenic	16	46924482	46924482	Human		name
8635815	CV91038	single nucleotide variant	NM_001142466.1(GPT2):c.211G>A (p.Asp71Asn)	Malignant melanoma [RCV000071136]	not provided	16	46906910	46906910	Human		name
401722823	CV2737555	microsatellite	NM_133443.4(GPT2):c.924_925del (p.Pro309fs)	Glutamate pyruvate transaminase 2 deficiency [RCV003314496]	likely pathogenic	16	46918641	46918642	Human		name
151235958	CV1319386	microsatellite	NM_133443.4(GPT2):c.225CGAGCT[3] (p.76EL[3])	not provided [RCV001797331]	uncertain significance	16	46884938	46884939	Human		name
40888539	CV971607	microsatellite	NM_133443.4(GPT2):c.1432_1433del (p.Val478fs)	Glutamate pyruvate transaminase 2 deficiency [RCV001263543]	pathogenic	16	46926985	46926986	Human		name
401913083	CV2830188	indel	NM_133443.4(GPT2):c.630_631delinsTT (p.Met210_Ile211delinsIlePhe)	not provided [RCV003441403]	uncertain significance	16	46909737	46909738	Human		name

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message