Ugdh Variant Search Result - Rat Genome Database

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80 records found for search term Ugdh

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
21404251	CV801968	variation	UGDH, ALA44VAL	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 [RCV001004651]	pathogenic				Human		name
21404252	CV801969	variation	UGDH, TYR14CYS	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 [RCV001004652]	pathogenic				Human		name
21404253	CV801970	variation	UGDH, SER72ALA	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 [RCV001004653]	pathogenic				Human		name
21404254	CV801971	single nucleotide variant	UGDH, ALA82THR	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 [RCV001004654]	pathogenic				Human		name
21404255	CV801972	variation	UGDH, ARG65TER	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 [RCV001004655]	pathogenic				Human		name
21404256	CV801973	variation	UGDH, TYR367CYS	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 [RCV001004656]	pathogenic				Human		name
21404257	CV801974	single nucleotide variant	UGDH, ARG317GLN	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84 [RCV001004657]	pathogenic				Human		name
329954035	CV2669375	single nucleotide variant	NM_003359.4(UGDH):c.265-6C>G	not provided [RCV003231883]	uncertain significance	4	39510867	39510867	Human		name
155641976	CV1710005	duplication	NM_003359.4(UGDH):c.1038-8dup	not provided [RCV002293105]	likely benign	4	39505377	39505378	Human		name
15156911	CV777512	microsatellite	NM_003359.4(UGDH):c.163-9_163-3del	not provided [RCV000946787]	benign	4	39514187	39514193	Human		name
408367271	CV3507268	single nucleotide variant	NM_003359.4(UGDH):c.21C>T (p.Ile7=)	UGDH-related disorder [RCV004758304]	likely benign	4	39521492	39521492	Human		name , trait , alternate_id
151352996	CV1326529	single nucleotide variant	NM_003359.4(UGDH):c.132G>T (p.Ala44=)	not provided [RCV001815931]	likely benign	4	39521381	39521381	Human		name
401923281	CV2822496	single nucleotide variant	NM_003359.4(UGDH):c.213T>C (p.Phe71=)	not provided [RCV003435006]	likely benign	4	39514134	39514134	Human		name
401944150	CV2840508	single nucleotide variant	NM_003359.4(UGDH):c.105T>G (p.Val35=)	not provided [RCV003457120]	likely benign	4	39521408	39521408	Human		name
150435791	CV1274953	single nucleotide variant	NM_003359.4(UGDH):c.792G>A (p.Lys264=)	not provided [RCV001702169]	likely benign	4	39509779	39509779	Human		name
401923279	CV2822495	single nucleotide variant	NM_003359.4(UGDH):c.921T>C (p.Asn307=)	not provided [RCV003435005]	likely benign	4	39505734	39505734	Human		name
598189418	CV4008698	single nucleotide variant	NM_003359.4(UGDH):c.38G>C (p.Gly13Ala)	Developmental and epileptic encephalopathy, 84 [RCV005396197]	uncertain significance	4	39521475	39521475	Human	1	name
21070927	CV798947	single nucleotide variant	NM_003359.4(UGDH):c.70G>A (p.Ala24Thr)	Epileptic encephalopathy [RCV000999492]	likely pathogenic	4	39521443	39521443	Human	2	name
21070893	CV798948	single nucleotide variant	NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)	Developmental and epileptic encephalopathy, 84 [RCV001004652]\|Epileptic encephalopathy [RCV000999493]\|UGDH-related disorder [RCV004758135]	pathogenic\|likely pathogenic\|uncertain significance	4	39521472	39521472	Human	3	name , trait , alternate_id
152102813	CV1667329	single nucleotide variant	NM_003359.4(UGDH):c.1440G>C (p.Pro480=)	not provided [RCV002214316]	likely benign	4	39500188	39500188	Human		name
401928075	CV2822494	single nucleotide variant	NM_003359.4(UGDH):c.1083T>C (p.Gly361=)	not provided [RCV003439295]	likely benign	4	39505325	39505325	Human		name
597636003	CV3622870	single nucleotide variant	NM_003359.4(UGDH):c.241G>A (p.Glu81Lys)	Inborn genetic diseases [RCV004969795]	uncertain significance	4	39514106	39514106	Human	1	name
597636006	CV3622871	single nucleotide variant	NM_003359.4(UGDH):c.209T>C (p.Phe70Ser)	Inborn genetic diseases [RCV004969796]	uncertain significance	4	39514138	39514138	Human	1	name
21070936	CV798942	single nucleotide variant	NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)	Developmental and epileptic encephalopathy, 84 [RCV001004654]\|Epileptic encephalopathy [RCV000999487]	pathogenic\|likely pathogenic	4	39514103	39514103	Human	3	name
21070890	CV798943	single nucleotide variant	NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)	Developmental and epileptic encephalopathy, 84 [RCV001004653]\|Epileptic encephalopathy [RCV000999488]	pathogenic\|likely pathogenic	4	39514133	39514133	Human	3	name
21070933	CV798944	single nucleotide variant	NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	Developmental and epileptic encephalopathy, 84 [RCV001004655]\|Epileptic encephalopathy [RCV000999489]\|UGDH-related disorder [RCV004758134]	pathogenic\|likely pathogenic	4	39514154	39514154	Human	3	name , trait , alternate_id
21070931	CV798945	single nucleotide variant	NM_003359.4(UGDH):c.131C>T (p.Ala44Val)	Developmental and epileptic encephalopathy, 84 [RCV001004651]\|Epileptic encephalopathy [RCV000999490]\|West syndrome [RCV003490002]	pathogenic\|likely pathogenic	4	39521382	39521382	Human	5	name
21070929	CV798946	single nucleotide variant	NM_003359.4(UGDH):c.125T>C (p.Ile42Thr)	Epileptic encephalopathy [RCV000999491]	likely pathogenic	4	39521388	39521388	Human	2	name
150543327	CV1309409	single nucleotide variant	NM_003359.4(UGDH):c.734G>C (p.Gly245Ala)	not provided [RCV003238477]	uncertain significance	4	39509837	39509837	Human		name
152980041	CV1678365	single nucleotide variant	NM_003359.4(UGDH):c.421C>T (p.Arg141Cys)	UGDH-related disorder [RCV003916407]\|not provided [RCV004711913]\|not specified [RCV002246870]	benign\|likely benign	4	39510705	39510705	Human	1	name , trait , alternate_id
153345811	CV1691445	single nucleotide variant	NM_003359.4(UGDH):c.311C>T (p.Ala104Val)	Developmental and epileptic encephalopathy, 84 [RCV002272928]	uncertain significance	4	39510815	39510815	Human	1	name
155795540	CV1861361	single nucleotide variant	NM_003359.4(UGDH):c.949C>T (p.Arg317Trp)	Developmental and epileptic encephalopathy, 84 [RCV005397436]\|not provided [RCV002469643]	uncertain significance	4	39505706	39505706	Human	1	name
155959131	CV1936432	single nucleotide variant	NM_003359.4(UGDH):c.343C>T (p.Arg115Cys)	not provided [RCV002512248]	uncertain significance	4	39510783	39510783	Human		name
243052207	CV2404333	single nucleotide variant	NM_003359.4(UGDH):c.709A>G (p.Ile237Val)	not provided [RCV003129359]	uncertain significance	4	39509862	39509862	Human		name
329953701	CV2668533	single nucleotide variant	NM_003359.4(UGDH):c.528C>G (p.Asp176Glu)	not provided [RCV003230186]	uncertain significance	4	39510488	39510488	Human		name
329954036	CV2669376	single nucleotide variant	NM_003359.4(UGDH):c.305G>A (p.Arg102Gln)	not provided [RCV003231884]	uncertain significance	4	39510821	39510821	Human		name
401870025	CV2772597	single nucleotide variant	NM_003359.4(UGDH):c.569G>T (p.Arg190Ile)	Inborn genetic diseases [RCV003345994]	uncertain significance	4	39510447	39510447	Human	1	name
404999443	CV2851449	single nucleotide variant	NM_003359.4(UGDH):c.304C>T (p.Arg102Trp)	Developmental and epileptic encephalopathy, 84 [RCV003493205]	uncertain significance	4	39510822	39510822	Human	1	name
405804833	CV3337981	single nucleotide variant	NM_003359.4(UGDH):c.344G>A (p.Arg115His)	Inborn genetic diseases [RCV004479437]	uncertain significance	4	39510782	39510782	Human	1	name
405854635	CV3392506	single nucleotide variant	NM_003359.4(UGDH):c.927C>G (p.Tyr309Ter)	Developmental and epileptic encephalopathy, 84 [RCV004527526]	uncertain significance	4	39505728	39505728	Human	1	name
407523211	CV3491279	deletion	NM_003359.4(UGDH):c.1270del (p.Asp424fs)	Inborn genetic diseases [RCV004677989]	pathogenic	4	39503979	39503979	Human	1	name
596946714	CV3548544	single nucleotide variant	NM_003359.4(UGDH):c.602A>C (p.His201Pro)	not provided [RCV004810371]	uncertain significance	4	39510414	39510414	Human		name
597635993	CV3622864	single nucleotide variant	NM_003359.4(UGDH):c.509A>G (p.Lys170Arg)	Inborn genetic diseases [RCV004969792]	uncertain significance	4	39510507	39510507	Human	1	name
597636001	CV3622866	single nucleotide variant	NM_003359.4(UGDH):c.614G>C (p.Arg205Thr)	Inborn genetic diseases [RCV004969794]	uncertain significance	4	39510402	39510402	Human	1	name
598127283	CV3888108	single nucleotide variant	NM_003359.4(UGDH):c.422G>A (p.Arg141His)	Inborn genetic diseases [RCV005303538]\|not provided [RCV005242794]	uncertain significance	4	39510704	39510704	Human	1	name
598190319	CV3929200	single nucleotide variant	NM_003359.4(UGDH):c.377T>G (p.Val126Gly)	Inborn genetic diseases [RCV005288192]	uncertain significance	4	39510749	39510749	Human	1	name
598190324	CV3929201	single nucleotide variant	NM_003359.4(UGDH):c.665C>T (p.Ala222Val)	Inborn genetic diseases [RCV005288193]	uncertain significance	4	39509906	39509906	Human	1	name
598190329	CV3929202	single nucleotide variant	NM_003359.4(UGDH):c.607G>A (p.Val203Ile)	Inborn genetic diseases [RCV005288194]	uncertain significance	4	39510409	39510409	Human	1	name
13832589	CV583092	single nucleotide variant	NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	Developmental and epileptic encephalopathy, 84 [RCV001004657]\|Epileptic encephalopathy [RCV000723274]	pathogenic\|likely pathogenic	4	39505705	39505705	Human	3	name
21070878	CV798934	single nucleotide variant	NM_003359.4(UGDH):c.916A>G (p.Met306Val)	Epileptic encephalopathy [RCV000999479]	likely pathogenic	4	39505739	39505739	Human	2	name
21070879	CV798935	single nucleotide variant	NM_003359.4(UGDH):c.907G>A (p.Val303Ile)	Epileptic encephalopathy [RCV000999480]	likely pathogenic	4	39505748	39505748	Human	2	name
21070882	CV798936	single nucleotide variant	NM_003359.4(UGDH):c.811G>C (p.Gly271Arg)	Epileptic encephalopathy [RCV000999481]	likely pathogenic	4	39509760	39509760	Human	2	name
21070883	CV798937	single nucleotide variant	NM_003359.4(UGDH):c.764T>C (p.Ile255Thr)	Epileptic encephalopathy [RCV000999482]	likely pathogenic	4	39509807	39509807	Human	2	name
21070886	CV798938	single nucleotide variant	NM_003359.4(UGDH):c.651G>C (p.Glu217Asp)	Epileptic encephalopathy [RCV000999483]	likely pathogenic	4	39510365	39510365	Human	2	name
21070887	CV798939	single nucleotide variant	NM_003359.4(UGDH):c.523C>G (p.Pro175Ala)	Epileptic encephalopathy [RCV000999484]	likely pathogenic	4	39510493	39510493	Human	2	name
21070941	CV798940	single nucleotide variant	NM_003359.4(UGDH):c.463C>T (p.Gln155Ter)	Epileptic encephalopathy [RCV000999485]	likely pathogenic	4	39510663	39510663	Human	2	name
21070938	CV798941	single nucleotide variant	NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)	Epileptic encephalopathy [RCV000999486]	likely pathogenic	4	39510752	39510752	Human	2	name
155931148	CV2220984	single nucleotide variant	NM_003359.4(UGDH):c.1396G>A (p.Val466Met)	Inborn genetic diseases [RCV002728781]	uncertain significance	4	39500232	39500232	Human	1	name
155988397	CV2259565	single nucleotide variant	NM_003359.4(UGDH):c.1292A>G (p.Lys431Arg)	Inborn genetic diseases [RCV002793461]	uncertain significance	4	39503957	39503957	Human	1	name
155956349	CV2281912	single nucleotide variant	NM_003359.4(UGDH):c.1423C>T (p.Pro475Ser)	Inborn genetic diseases [RCV002840872]\|not provided [RCV003435909]	uncertain significance	4	39500205	39500205	Human	1	name
329394730	CV2461482	single nucleotide variant	NM_003359.4(UGDH):c.1439C>G (p.Pro480Arg)	Inborn genetic diseases [RCV003193808]	uncertain significance	4	39500189	39500189	Human	1	name
401871084	CV2783417	single nucleotide variant	NM_003359.4(UGDH):c.1421C>T (p.Ala474Val)	Inborn genetic diseases [RCV003381453]	uncertain significance	4	39500207	39500207	Human	1	name
405804830	CV3337980	single nucleotide variant	NM_003359.4(UGDH):c.1423C>A (p.Pro475Thr)	Inborn genetic diseases [RCV004479436]	uncertain significance	4	39500205	39500205	Human	1	name
408367496	CV3515899	single nucleotide variant	NM_003359.4(UGDH):c.1202C>T (p.Pro401Leu)	UGDH-related disorder [RCV004758543]	uncertain significance	4	39504478	39504478	Human		name , trait , alternate_id
408393885	CV3526263	single nucleotide variant	NM_003359.4(UGDH):c.1136A>T (p.Asp379Val)	Developmental and epileptic encephalopathy, 84 [RCV004771695]	uncertain significance	4	39505272	39505272	Human	1	name
596921770	CV3535396	single nucleotide variant	NM_003359.4(UGDH):c.1066T>C (p.Tyr356His)	Developmental and epileptic encephalopathy, 84 [RCV004784951]	uncertain significance	4	39505342	39505342	Human	1	name
597635997	CV3622865	single nucleotide variant	NM_003359.4(UGDH):c.1264G>A (p.Glu422Lys)	Inborn genetic diseases [RCV004969793]	uncertain significance	4	39503985	39503985	Human	1	name
597844966	CV3880340	single nucleotide variant	NM_003359.4(UGDH):c.1248G>C (p.Glu416Asp)	not provided [RCV005227228]	conflicting interpretations of pathogenicity\|uncertain significance	4	39504432	39504432	Human		name
598129826	CV3887248	single nucleotide variant	NM_003359.4(UGDH):c.1090C>G (p.Leu364Val)	not provided [RCV005245308]	uncertain significance	4	39505318	39505318	Human		name
598225317	CV3892341	single nucleotide variant	NM_003359.4(UGDH):c.1009G>A (p.Ala337Thr)	Developmental and epileptic encephalopathy, 84 [RCV005254176]	uncertain significance	4	39505646	39505646	Human	1	name
598266056	CV3929199	single nucleotide variant	NM_003359.4(UGDH):c.1196A>G (p.Lys399Arg)	Inborn genetic diseases [RCV005301854]	uncertain significance	4	39504484	39504484	Human	1	name
21070864	CV798927	single nucleotide variant	NM_003359.4(UGDH):c.1346A>G (p.His449Arg)	Epileptic encephalopathy [RCV000999472]	likely pathogenic	4	39503903	39503903	Human	2	name
21070865	CV798928	single nucleotide variant	NM_003359.4(UGDH):c.1328G>A (p.Arg443His)	Epileptic encephalopathy [RCV000999473]	likely pathogenic	4	39503921	39503921	Human	2	name
21070868	CV798929	single nucleotide variant	NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp)	Epileptic encephalopathy [RCV000999474]	likely pathogenic	4	39503925	39503925	Human	2	name
21070870	CV798930	single nucleotide variant	NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser)	Epileptic encephalopathy [RCV000999475]	likely pathogenic	4	39504452	39504452	Human	2	name
21070873	CV798931	single nucleotide variant	NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)	Developmental and epileptic encephalopathy, 84 [RCV003152743]\|Epileptic encephalopathy [RCV000999476]	likely pathogenic	4	39504503	39504503	Human	3	name
21070874	CV798932	single nucleotide variant	NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)	Developmental and epileptic encephalopathy, 84 [RCV001004656]\|Epileptic encephalopathy [RCV000999477]	pathogenic\|likely pathogenic	4	39505308	39505308	Human	3	name
21070876	CV798933	single nucleotide variant	NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter)	Epileptic encephalopathy [RCV000999478]	likely pathogenic	4	39505340	39505340	Human	2	name
596921771	CV3535397	microsatellite	NM_003359.4(UGDH):c.528_531del (p.Asp176fs)	Developmental and epileptic encephalopathy, 84 [RCV004784952]	likely pathogenic	4	39510485	39510488	Human		name
8625787	CV80911	single nucleotide variant	NM_001184700.1(UGDH):c.1058T>C (p.Phe353Ser)	Malignant melanoma [RCV000060988]	not provided	4	39504421	39504421	Human		name

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