B4galt1 Variant Search Result - Rat Genome Database

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183 records found for search term B4galt1

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405265749	CV3220821	single nucleotide variant	NM_001497.4(B4GALT1):c.-6G>A	B4GALT1-related disorder [RCV003968995]	likely benign	9	33167175	33167175	Human		name , trait , alternate_id
11607401	CV312589	single nucleotide variant	NM_001497.3(B4GALT1):c.-81G>A	Congenital disorder of glycosylation [RCV000343268]	uncertain significance	9	33167250	33167250	Human		name
11610188	CV318477	single nucleotide variant	NM_001497.3(B4GALT1):c.-60C>T	Congenital disorder of glycosylation [RCV000378044]	uncertain significance	9	33167229	33167229	Human		name
11649166	CV318479	single nucleotide variant	NM_001497.3(B4GALT1):c.-69G>T	Congenital disorder of glycosylation [RCV000285873]	uncertain significance	9	33167238	33167238	Human		name
13540894	CV502931	single nucleotide variant	NM_001497.4(B4GALT1):c.-35G>T	not specified [RCV000615353]	likely benign	9	33167204	33167204	Human		name
150429358	CV1187482	single nucleotide variant	NM_001497.4(B4GALT1):c.*154G>A	not provided [RCV001563493]	likely benign	9	33113300	33113300	Human		name
150535462	CV1311897	single nucleotide variant	NM_001497.4(B4GALT1):c.*153C>T	not provided [RCV001779707]	likely benign	9	33113301	33113301	Human		name
11653438	CV308194	single nucleotide variant	NM_001497.3(B4GALT1):c.*925A>G	Congenital disorder of glycosylation [RCV000310829]	uncertain significance	9	33112529	33112529	Human		name
11644379	CV308200	single nucleotide variant	NM_001497.3(B4GALT1):c.*706A>T	Congenital disorder of glycosylation [RCV000259902]	uncertain significance	9	33112748	33112748	Human		name
11611768	CV308203	single nucleotide variant	NM_001497.3(B4GALT1):c.*183C>G	Congenital disorder of glycosylation [RCV000399624]	uncertain significance	9	33113271	33113271	Human		name
11659880	CV312563	single nucleotide variant	NM_001497.4(B4GALT1):c.*714G>C	Congenital disorder of glycosylation [RCV000361915]	uncertain significance	9	33112740	33112740	Human	1	name
11635182	CV312566	duplication	NM_001497.4(B4GALT1):c.*705dup	Congenital disorder of glycosylation [RCV000317423]	uncertain significance	9	33112748	33112749	Human	1	name
11609934	CV312570	single nucleotide variant	NM_001497.3(B4GALT1):c.*414G>C	Congenital disorder of glycosylation [RCV000374366]	uncertain significance	9	33113040	33113040	Human		name
11606337	CV312572	single nucleotide variant	NM_001497.3(B4GALT1):c.*331C>T	Congenital disorder of glycosylation [RCV000330422]	benign	9	33113123	33113123	Human		name
11662008	CV312583	single nucleotide variant	NM_001497.3(B4GALT1):c.*251C>G	Congenital disorder of glycosylation [RCV000382180]	uncertain significance	9	33113203	33113203	Human		name
11603744	CV312584	single nucleotide variant	NM_001497.4(B4GALT1):c.*130G>A	not provided [RCV001714188]	benign	9	33113324	33113324	Human	4	name
11603744	CV312584	single nucleotide variant	NM_001497.4(B4GALT1):c.*130G>A	not provided [RCV001714188]	benign	9	33113324	33113325	Human	4	name
11662941	CV312590	single nucleotide variant	NM_001497.3(B4GALT1):c.-159G>C	Congenital disorder of glycosylation [RCV000390930]	uncertain significance	9	33167328	33167328	Human		name
11608668	CV318436	single nucleotide variant	NM_001497.3(B4GALT1):c.*879T>C	Congenital disorder of glycosylation [RCV000358421]	uncertain significance	9	33112575	33112575	Human		name
11599474	CV318443	single nucleotide variant	NM_001497.3(B4GALT1):c.*829T>G	Congenital disorder of glycosylation [RCV000266061]	likely benign	9	33112625	33112625	Human		name
11599174	CV318446	single nucleotide variant	NM_001497.3(B4GALT1):c.*386C>T	Congenital disorder of glycosylation [RCV000263373]	uncertain significance	9	33113068	33113068	Human		name
11610884	CV318447	single nucleotide variant	NM_001497.3(B4GALT1):c.*316G>A	Congenital disorder of glycosylation [RCV000387288]	uncertain significance	9	33113138	33113138	Human		name
11602380	CV318455	single nucleotide variant	NM_001497.3(B4GALT1):c.*226G>A	Congenital disorder of glycosylation [RCV000290133]	uncertain significance	9	33113228	33113228	Human		name
11651398	CV318482	single nucleotide variant	NM_001497.3(B4GALT1):c.-112C>A	Congenital disorder of glycosylation [RCV000298891]	uncertain significance	9	33167281	33167281	Human		name
11602930	CV318949	single nucleotide variant	NM_001497.3(B4GALT1):c.*286T>G	Congenital disorder of glycosylation [RCV000295351]	uncertain significance	9	33113168	33113168	Human	1	name
11602930	CV318949	single nucleotide variant	NM_001497.3(B4GALT1):c.*286T>G	Congenital disorder of glycosylation [RCV000295351]	uncertain significance	9	33113168	33113169	Human	1	name
11608218	CV318951	single nucleotide variant	NM_001497.4(B4GALT1):c.*256C>A	not provided [RCV001638937]	benign	9	33113198	33113198	Human		name
11607788	CV318953	single nucleotide variant	NM_001497.3(B4GALT1):c.*219C>A	Congenital disorder of glycosylation [RCV000347455]	uncertain significance	9	33113235	33113235	Human		name
11611926	CV318975	single nucleotide variant	NM_001497.4(B4GALT1):c.-101C>T	not provided [RCV001786110]	likely benign\|uncertain significance	9	33167270	33167270	Human		name
11656912	CV318980	single nucleotide variant	NM_001497.3(B4GALT1):c.-132C>G	Congenital disorder of glycosylation [RCV000337536]	uncertain significance	9	33167301	33167301	Human		name
126915621	CV1046150	single nucleotide variant	NM_001497.4(B4GALT1):c.648+6G>A	not provided [RCV001360098]	uncertain significance	9	33135183	33135183	Human		name
11663916	CV308170	deletion	NM_001497.4(B4GALT1):c.*2398del	Congenital disorder of glycosylation [RCV000400836]	uncertain significance	9	33111056	33111056	Human	1	name
11606780	CV308171	single nucleotide variant	NM_001497.3(B4GALT1):c.*2269C>G	Congenital disorder of glycosylation [RCV000335878]	uncertain significance	9	33111185	33111185	Human		name
11611243	CV308172	single nucleotide variant	NM_001497.3(B4GALT1):c.*2253G>A	Congenital disorder of glycosylation [RCV000392408]	uncertain significance	9	33111201	33111201	Human		name
11645275	CV308184	single nucleotide variant	NM_001497.4(B4GALT1):c.*1874C>T	Congenital disorder of glycosylation [RCV000264743]	uncertain significance	9	33111580	33111580	Human	1	name
11609828	CV308185	single nucleotide variant	NM_001497.3(B4GALT1):c.*1499C>T	Congenital disorder of glycosylation [RCV000373458]	uncertain significance	9	33111955	33111955	Human	1	name
11609828	CV308185	single nucleotide variant	NM_001497.3(B4GALT1):c.*1499C>T	Congenital disorder of glycosylation [RCV000373458]	uncertain significance	9	33111955	33111956	Human	1	name
11601305	CV308187	single nucleotide variant	NM_001497.3(B4GALT1):c.*1461A>T	Congenital disorder of glycosylation [RCV000281343]	uncertain significance	9	33111993	33111993	Human		name
11663723	CV308188	single nucleotide variant	NM_001497.3(B4GALT1):c.*1332C>A	Congenital disorder of glycosylation [RCV000398838]	uncertain significance	9	33112122	33112122	Human		name
11609127	CV308193	single nucleotide variant	NM_001497.3(B4GALT1):c.*1014A>G	Congenital disorder of glycosylation [RCV000364395]	likely benign	9	33112440	33112440	Human		name
11606435	CV312539	single nucleotide variant	NM_001497.3(B4GALT1):c.*2759T>G	Congenital disorder of glycosylation [RCV000331485]	uncertain significance	9	33110695	33110695	Human		name
11647557	CV312543	single nucleotide variant	NM_001497.4(B4GALT1):c.*2718G>C	Congenital disorder of glycosylation [RCV000277205]	uncertain significance	9	33110736	33110736	Human	1	name
11606221	CV312544	single nucleotide variant	NM_001497.3(B4GALT1):c.*2458C>T	Congenital disorder of glycosylation [RCV000328851]	uncertain significance	9	33110996	33110996	Human		name
11600017	CV312547	single nucleotide variant	NM_001497.3(B4GALT1):c.*2104T>C	Congenital disorder of glycosylation [RCV000270491]	likely benign	9	33111350	33111350	Human		name
11657091	CV312553	single nucleotide variant	NM_001497.3(B4GALT1):c.*1337C>G	Congenital disorder of glycosylation [RCV000338760]	uncertain significance	9	33112117	33112117	Human		name
11650503	CV312559	single nucleotide variant	NM_001497.3(B4GALT1):c.*1327T>C	Congenital disorder of glycosylation [RCV000293400]	uncertain significance	9	33112127	33112127	Human		name
11608053	CV312561	single nucleotide variant	NM_001497.3(B4GALT1):c.*1122C>T	Congenital disorder of glycosylation [RCV000350633]	uncertain significance	9	33112332	33112332	Human		name
11611328	CV312562	single nucleotide variant	NM_001497.3(B4GALT1):c.*1005C>A	Congenital disorder of glycosylation [RCV000393590]	uncertain significance	9	33112449	33112449	Human		name
11610936	CV318404	single nucleotide variant	NM_001497.3(B4GALT1):c.*2729C>T	Congenital disorder of glycosylation [RCV000388406]	uncertain significance	9	33110725	33110725	Human		name
11605922	CV318413	single nucleotide variant	NM_001497.3(B4GALT1):c.*2613G>A	Congenital disorder of glycosylation [RCV000325217]	likely benign	9	33110841	33110841	Human		name
11634829	CV318417	duplication	NM_001497.3(B4GALT1):c.*2404dup	Congenital disorder of glycosylation [RCV000283956]	likely benign	9	33111049	33111050	Human		name
11607269	CV318419	single nucleotide variant	NM_001497.3(B4GALT1):c.*2402G>A	Congenital disorder of glycosylation [RCV000341252]	uncertain significance	9	33111052	33111052	Human		name
11605628	CV318431	single nucleotide variant	NM_001497.3(B4GALT1):c.*1766C>T	Congenital disorder of glycosylation [RCV000322254]	uncertain significance	9	33111688	33111688	Human		name
11634925	CV318434	duplication	NM_001497.4(B4GALT1):c.*1675dup	Congenital disorder of glycosylation [RCV000287084]	likely benign	9	33111778	33111779	Human	1	name
11604241	CV318435	single nucleotide variant	NM_001497.3(B4GALT1):c.*1080T>C	Congenital disorder of glycosylation [RCV000307353]	uncertain significance	9	33112374	33112374	Human		name
11662019	CV318875	single nucleotide variant	NM_001497.3(B4GALT1):c.*2569G>C	Congenital disorder of glycosylation [RCV000382261]	uncertain significance	9	33110885	33110885	Human		name
11602341	CV318876	single nucleotide variant	NM_001497.3(B4GALT1):c.*2490C>T	Congenital disorder of glycosylation [RCV000290197]	uncertain significance	9	33110964	33110964	Human		name
11610064	CV318885	single nucleotide variant	NM_001497.3(B4GALT1):c.*2441G>A	Congenital disorder of glycosylation [RCV000376544]	uncertain significance	9	33111013	33111013	Human		name
11647791	CV318909	single nucleotide variant	NM_001497.3(B4GALT1):c.*2292A>T	Congenital disorder of glycosylation [RCV000278596]	uncertain significance	9	33111162	33111162	Human		name
11609327	CV318912	single nucleotide variant	NM_001497.3(B4GALT1):c.*2178T>G	Congenital disorder of glycosylation [RCV000367058]	uncertain significance	9	33111276	33111276	Human		name
11609026	CV318918	single nucleotide variant	NM_001497.3(B4GALT1):c.*2175G>T	Congenital disorder of glycosylation [RCV000362838]	uncertain significance	9	33111279	33111279	Human		name
11606114	CV318924	single nucleotide variant	NM_001497.3(B4GALT1):c.*2041G>A	Congenital disorder of glycosylation [RCV000327881]	likely benign	9	33111413	33111413	Human		name
11609264	CV318926	deletion	NM_001497.4(B4GALT1):c.*1890del	Congenital disorder of glycosylation [RCV000366157]	likely benign	9	33111564	33111564	Human	1	name
11661683	CV318942	single nucleotide variant	NM_001497.3(B4GALT1):c.*1751G>A	Congenital disorder of glycosylation [RCV000379087]	uncertain significance	9	33111703	33111703	Human		name
11605174	CV318945	single nucleotide variant	NM_001497.3(B4GALT1):c.*1664A>G	Congenital disorder of glycosylation [RCV000316544]	likely benign	9	33111790	33111790	Human		name
11635763	CV318946	duplication	NM_001497.4(B4GALT1):c.*1087dup	Congenital disorder of glycosylation [RCV000393571]	uncertain significance	9	33112366	33112367	Human	1	name
597866992	CV3802933	single nucleotide variant	NM_001497.4(B4GALT1):c.836+8A>C	not provided [RCV005147720]	likely benign	9	33120411	33120411	Human		name
150468803	CV1243054	single nucleotide variant	NM_001497.4(B4GALT1):c.960-94G>A	not provided [RCV001650572]	benign	9	33113972	33113972	Human	1	name
150468803	CV1243054	single nucleotide variant	NM_001497.4(B4GALT1):c.960-94G>A	not provided [RCV001650572]	benign	9	33113972	33113973	Human	1	name
150548637	CV1316444	single nucleotide variant	NM_001497.4(B4GALT1):c.959+22T>C	not provided [RCV001786246]	likely benign	9	33115969	33115969	Human		name
152136430	CV1560649	single nucleotide variant	NM_001497.4(B4GALT1):c.959+15T>C	not provided [RCV002137602]	likely benign	9	33115976	33115976	Human		name
152175415	CV1663641	single nucleotide variant	NM_001497.4(B4GALT1):c.413-18C>T	not provided [RCV002163549]	likely benign	9	33135442	33135442	Human		name
11350921	CV237110	single nucleotide variant	NM_001497.4(B4GALT1):c.1064+5A>T	not provided [RCV000224633]	conflicting interpretations of pathogenicity\|uncertain significance	9	33113769	33113769	Human		name
405245938	CV2965612	single nucleotide variant	NM_001497.4(B4GALT1):c.412+15C>T	not provided [RCV003685300]	likely benign	9	33166743	33166743	Human		name
405219330	CV3143840	single nucleotide variant	NM_001497.4(B4GALT1):c.1065-5T>C	not provided [RCV003846810]	likely benign	9	33113591	33113591	Human		name
11599016	CV318457	single nucleotide variant	NM_001497.4(B4GALT1):c.960-12T>C	not provided [RCV001718794]	benign\|likely benign\|uncertain significance	9	33113890	33113890	Human		name
11599885	CV318971	single nucleotide variant	NM_001497.4(B4GALT1):c.412+11G>T	not provided [RCV001518436]\|not specified [RCV000425479]	benign\|likely benign	9	33166747	33166747	Human		name
405282400	CV3190989	single nucleotide variant	NM_001497.4(B4GALT1):c.837-10T>C	B4GALT1-related disorder [RCV003921413]	likely benign	9	33116123	33116123	Human		name , trait , alternate_id
597938761	CV3852901	single nucleotide variant	NM_001497.4(B4GALT1):c.1065-9T>C	not provided [RCV005187302]	likely benign	9	33113595	33113595	Human		name
13516842	CV488301	duplication	NM_001497.4(B4GALT1):c.412+44dup	not provided [RCV000596027]	conflicting interpretations of pathogenicity\|uncertain significance	9	33166713	33166714	Human		name
150338967	CV1167468	single nucleotide variant	NM_001497.4(B4GALT1):c.836+213T>C	not provided [RCV001533942]	benign	9	33120206	33120206	Human	3	name
150338967	CV1167468	single nucleotide variant	NM_001497.4(B4GALT1):c.836+213T>C	not provided [RCV001533942]	benign	9	33120206	33120207	Human	3	name
150333132	CV1169336	single nucleotide variant	NM_001497.4(B4GALT1):c.836+206T>C	not provided [RCV001537177]	benign	9	33120213	33120213	Human		name
150474972	CV1217880	single nucleotide variant	NM_001497.4(B4GALT1):c.649-102T>C	not provided [RCV001615891]	benign	9	33120708	33120708	Human		name
150487123	CV1225856	single nucleotide variant	NM_001497.4(B4GALT1):c.836+156A>G	not provided [RCV001618017]	benign	9	33120263	33120263	Human	1	name
150487123	CV1225856	single nucleotide variant	NM_001497.4(B4GALT1):c.836+156A>G	not provided [RCV001618017]	benign	9	33120263	33120264	Human	1	name
150507466	CV1226599	single nucleotide variant	NM_001497.4(B4GALT1):c.413-212A>G	not provided [RCV001635967]	benign	9	33135636	33135636	Human		name
150517219	CV1226667	single nucleotide variant	NM_001497.4(B4GALT1):c.648+325T>A	not provided [RCV001639761]	benign	9	33134864	33134864	Human		name
150508904	CV1229759	single nucleotide variant	NM_001497.4(B4GALT1):c.649-161A>G	not provided [RCV001636338]	benign	9	33120767	33120767	Human		name
150497425	CV1237020	single nucleotide variant	NM_001497.4(B4GALT1):c.836+214T>C	not provided [RCV001656084]	benign	9	33120205	33120205	Human		name
150469773	CV1247877	deletion	NM_001497.4(B4GALT1):c.837-128del	not provided [RCV001670913]	benign	9	33116241	33116241	Human		name
150471415	CV1270071	single nucleotide variant	NM_001497.4(B4GALT1):c.412+141A>G	not provided [RCV001695359]	benign	9	33166617	33166617	Human		name
150535081	CV1311768	single nucleotide variant	NM_001497.4(B4GALT1):c.959+135G>A	not provided [RCV001779578]	likely benign	9	33115856	33115856	Human		name
151232754	CV1316895	single nucleotide variant	NM_001497.4(B4GALT1):c.1064+32C>G	not provided [RCV001786715]	likely benign	9	33113742	33113742	Human		name
12837150	CV370878	single nucleotide variant	NM_001497.4(B4GALT1):c.1065-12T>A	not specified [RCV000424673]	likely benign	9	33113598	33113598	Human		name
14730061	CV664297	single nucleotide variant	NM_001497.4(B4GALT1):c.648+102C>T	B4GALT1-congenital disorder of glycosylation [RCV001554210]\|not provided [RCV000835505]	benign	9	33135087	33135087	Human	1	name , trait , alternate_id
11611245	CV308177	microsatellite	NM_001497.4(B4GALT1):c.*2172GTT[1]	Congenital disorder of glycosylation [RCV000392424]\|not provided [RCV004696136]	uncertain significance	9	33111277	33111279	Human		name
11605752	CV308196	microsatellite	NM_001497.4(B4GALT1):c.*730AGAA[1]	Congenital disorder of glycosylation [RCV000323528]\|not provided [RCV004696137]	uncertain significance	9	33112717	33112720	Human		name
598125404	CV3883981	duplication	NM_001497.4(B4GALT1):c.960-61_964dup	not provided [RCV005236336]	uncertain significance	9	33113873	33113874	Human		name
11651724	CV312545	deletion	NM_001497.4(B4GALT1):c.2200_2203del	Congenital disorder of glycosylation [RCV000300707]\|not provided [RCV004696135]	uncertain significance	9	33111251	33111254	Human	1	name
11653847	CV318427	deletion	NM_001497.4(B4GALT1):c.2172_2176del	Congenital disorder of glycosylation [RCV000313639]	uncertain significance	9	33111278	33111282	Human	1	name
152099963	CV1655238	single nucleotide variant	NM_001497.4(B4GALT1):c.96G>A (p.Leu32=)	B4GALT1-related disorder [RCV003923603]\|not provided [RCV002115198]	likely benign	9	33167074	33167074	Human	1	name , trait , alternate_id
156264782	CV2054095	deletion	NM_001497.4(B4GALT1):c.412+13_412+17del	not provided [RCV002792139]	likely benign	9	33166741	33166745	Human		name
11607110	CV312588	single nucleotide variant	NM_001497.3(B4GALT1):c.39G>A (p.Ala13=)	Congenital disorder of glycosylation [RCV000339562]	uncertain significance	9	33167131	33167131	Human		name
405287397	CV3220744	single nucleotide variant	NM_001497.4(B4GALT1):c.39G>T (p.Ala13=)	B4GALT1-related disorder [RCV003959860]	likely benign	9	33167131	33167131	Human		name , trait , alternate_id
12838151	CV371228	single nucleotide variant	NM_001497.4(B4GALT1):c.84C>T (p.Ala28=)	B4GALT1-related disorder [RCV003942428]\|not specified [RCV000426434]	likely benign	9	33167086	33167086	Human	1	name , trait , alternate_id
14710134	CV664284	deletion	NM_001497.4(B4GALT1):c.960-19_960-18del	not provided [RCV000842464]	likely benign	9	33113896	33113897	Human		name
15114518	CV751678	single nucleotide variant	NM_001497.4(B4GALT1):c.54C>G (p.Ser18=)	not provided [RCV000917291]	likely benign	9	33167116	33167116	Human		name
21071807	CV790903	single nucleotide variant	NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr)	B4GALT1-congenital disorder of glycosylation [RCV000988174]\|not provided [RCV002550608]	uncertain significance	9	33167165	33167165	Human	1	name , trait , alternate_id
127320484	CV1140464	single nucleotide variant	NM_001497.4(B4GALT1):c.186C>G (p.Gly62=)	not provided [RCV001504396]	likely benign	9	33166984	33166984	Human		name
127294017	CV1140465	single nucleotide variant	NM_001497.4(B4GALT1):c.180G>A (p.Leu60=)	not provided [RCV001496895]	likely benign	9	33166990	33166990	Human		name
150549521	CV1295294	single nucleotide variant	NM_001497.4(B4GALT1):c.10C>T (p.Arg4Trp)	not provided [RCV001765194]	uncertain significance	9	33167160	33167160	Human		name
15174798	CV711949	single nucleotide variant	NM_001497.4(B4GALT1):c.27C>A (p.Ser9Arg)	B4GALT1-related disorder [RCV003962899]\|not provided [RCV000972794]	likely benign	9	33167143	33167143	Human	1	name , trait , alternate_id
15117075	CV751677	single nucleotide variant	NM_001497.4(B4GALT1):c.192G>A (p.Ser64=)	not provided [RCV000917736]	likely benign	9	33166978	33166978	Human		name
152109239	CV1563843	single nucleotide variant	NM_001497.4(B4GALT1):c.765T>C (p.Asn255=)	not provided [RCV002174118]	likely benign	9	33120490	33120490	Human		name
155697625	CV1778694	single nucleotide variant	NM_001497.4(B4GALT1):c.28G>T (p.Gly10Cys)	not provided [RCV002299738]	uncertain significance	9	33167142	33167142	Human		name
156394662	CV1876445	single nucleotide variant	NM_001497.4(B4GALT1):c.777G>A (p.Ala259=)	not provided [RCV003068449]	likely benign	9	33120478	33120478	Human		name
329376699	CV2454997	single nucleotide variant	NM_001497.4(B4GALT1):c.50C>T (p.Ala17Val)	Inborn genetic diseases [RCV003211602]\|not provided [RCV004779513]	uncertain significance	9	33167120	33167120	Human	1	name
11642062	CV265735	single nucleotide variant	NM_001497.4(B4GALT1):c.864T>G (p.Gly288=)	not provided [RCV000368422]	uncertain significance	9	33116086	33116086	Human		name
11636797	CV265736	single nucleotide variant	NM_001497.4(B4GALT1):c.867C>G (p.Val289=)	not provided [RCV000273704]	uncertain significance	9	33116083	33116083	Human		name
405151891	CV2888630	single nucleotide variant	NM_001497.4(B4GALT1):c.459C>T (p.Leu153=)	B4GALT1-related disorder [RCV003966504]\|not provided [RCV003561788]	likely benign	9	33135378	33135378	Human	1	name , trait , alternate_id
11606523	CV318461	single nucleotide variant	NM_001497.4(B4GALT1):c.621G>A (p.Leu207=)	not provided [RCV000954407]	likely benign\|uncertain significance	9	33135216	33135216	Human		name
11662171	CV318462	single nucleotide variant	NM_001497.4(B4GALT1):c.357G>T (p.Val119=)	B4GALT1-related disorder [RCV003933391]\|not provided [RCV002097886]	likely benign\|uncertain significance	9	33166813	33166813	Human	1	name , trait , alternate_id
597631446	CV3627992	single nucleotide variant	NM_001497.4(B4GALT1):c.67T>C (p.Cys23Arg)	Inborn genetic diseases [RCV004967702]	uncertain significance	9	33167103	33167103	Human	1	name
12839093	CV371217	single nucleotide variant	NM_001497.4(B4GALT1):c.987T>C (p.Ser329=)	not provided [RCV000903605]\|not specified [RCV000428184]	likely benign	9	33113851	33113851	Human		name
597941108	CV3757339	single nucleotide variant	NM_001497.4(B4GALT1):c.660T>C (p.Thr220=)	not provided [RCV005077525]	likely benign	9	33120595	33120595	Human		name
126733965	CV985822	single nucleotide variant	NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)	B4GALT1-congenital disorder of glycosylation [RCV001293780]	uncertain significance	9	33167109	33167109	Human	1	name , trait , alternate_id
8640696	CV99682	single nucleotide variant	NM_001497.4(B4GALT1):c.597C>T (p.His199=)	B4GALT1-congenital disorder of glycosylation [RCV001554211]\|not provided [RCV001515161]\|not specified [RCV000079717]	benign\|likely benign	9	33135240	33135240	Human	1	name , trait , alternate_id
156016688	CV2044111	single nucleotide variant	NM_001497.4(B4GALT1):c.257C>T (p.Pro86Leu)	not provided [RCV002795382]	uncertain significance	9	33166913	33166913	Human		name
156028649	CV2238249	single nucleotide variant	NM_001497.4(B4GALT1):c.278A>C (p.Gln93Pro)	Inborn genetic diseases [RCV002757904]	uncertain significance	9	33166892	33166892	Human	1	name
329374460	CV2463580	single nucleotide variant	NM_001497.4(B4GALT1):c.112C>T (p.Leu38Phe)	Inborn genetic diseases [RCV003210814]	uncertain significance	9	33167058	33167058	Human	1	name
11608377	CV308204	single nucleotide variant	NM_001497.4(B4GALT1):c.1050A>G (p.Glu350=)	B4GALT1-congenital disorder of glycosylation [RCV002488829]\|not provided [RCV000963462]\|not specified [RCV000437780]	benign\|likely benign\|uncertain significance	9	33113788	33113788	Human	1	name , trait , alternate_id
11607274	CV312585	single nucleotide variant	NM_001497.3(B4GALT1):c.1156T>C (p.Leu386=)	Congenital disorder of glycosylation [RCV000341317]	uncertain significance	9	33113495	33113495	Human		name
405690507	CV3290691	single nucleotide variant	NM_001497.4(B4GALT1):c.229C>T (p.Leu77Phe)	Inborn genetic diseases [RCV004423604]	uncertain significance	9	33166941	33166941	Human	1	name
597958551	CV3848453	single nucleotide variant	NM_001497.4(B4GALT1):c.203C>T (p.Ala68Val)	not provided [RCV005192154]	uncertain significance	9	33166967	33166967	Human		name
13482616	CV444474	single nucleotide variant	NM_001497.4(B4GALT1):c.143G>A (p.Ser48Asn)	Inborn genetic diseases [RCV004023586]\|not provided [RCV000521835]	uncertain significance	9	33167027	33167027	Human	1	name
15104617	CV723550	single nucleotide variant	NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser)	B4GALT1-congenital disorder of glycosylation [RCV002501476]\|not provided [RCV000892920]\|not specified [RCV003317397]	likely benign\|uncertain significance	9	33166911	33166911	Human	1	name , trait , alternate_id
126732232	CV1020634	single nucleotide variant	NM_001497.4(B4GALT1):c.811G>A (p.Val271Ile)	B4GALT1-congenital disorder of glycosylation [RCV001333950]\|not provided [RCV001865798]	uncertain significance	9	33120444	33120444	Human	1	name , trait , alternate_id
126764058	CV1029178	single nucleotide variant	NM_001497.4(B4GALT1):c.800G>A (p.Arg267Gln)	not provided [RCV001341514]	uncertain significance	9	33120455	33120455	Human		name
151730995	CV1457842	single nucleotide variant	NM_001497.4(B4GALT1):c.557A>G (p.Asn186Ser)	not provided [RCV001967110]	uncertain significance	9	33135280	33135280	Human		name
151743287	CV1478285	single nucleotide variant	NM_001497.4(B4GALT1):c.526C>T (p.His176Tyr)	not provided [RCV002006029]	uncertain significance	9	33135311	33135311	Human		name
151848439	CV1514266	single nucleotide variant	NM_001497.4(B4GALT1):c.538A>G (p.Ile180Val)	not provided [RCV001957649]	uncertain significance	9	33135299	33135299	Human		name
155996373	CV1875857	single nucleotide variant	NM_001497.4(B4GALT1):c.898A>G (p.Ile300Val)	Inborn genetic diseases [RCV004603281]\|not provided [RCV003076364]	uncertain significance	9	33116052	33116052	Human	1	name
156021912	CV1909607	single nucleotide variant	NM_001497.4(B4GALT1):c.790T>G (p.Ser264Ala)	not provided [RCV002619438]	uncertain significance	9	33120465	33120465	Human		name
156330592	CV1988959	single nucleotide variant	NM_001497.4(B4GALT1):c.716A>G (p.Tyr239Cys)	B4GALT1-congenital disorder of glycosylation [RCV004771526]\|not provided [RCV002649796]	uncertain significance	9	33120539	33120539	Human	1	name , trait , alternate_id
156013239	CV2121209	single nucleotide variant	NM_001497.4(B4GALT1):c.611G>A (p.Arg204His)	not provided [RCV002948392]	uncertain significance	9	33135226	33135226	Human		name
156314255	CV2196617	single nucleotide variant	NM_001497.4(B4GALT1):c.661A>G (p.Ile221Val)	Inborn genetic diseases [RCV002648450]	uncertain significance	9	33120594	33120594	Human	1	name
156000362	CV2287373	single nucleotide variant	NM_001497.4(B4GALT1):c.776C>G (p.Ala259Gly)	Inborn genetic diseases [RCV002865299]	uncertain significance	9	33120479	33120479	Human	1	name
155944964	CV2291897	single nucleotide variant	NM_001497.4(B4GALT1):c.547C>G (p.Pro183Ala)	Inborn genetic diseases [RCV002880098]	uncertain significance	9	33135290	33135290	Human	1	name
155910691	CV2303649	single nucleotide variant	NM_001497.4(B4GALT1):c.403C>G (p.Pro135Ala)	Inborn genetic diseases [RCV002902539]	uncertain significance	9	33166767	33166767	Human	1	name
156041529	CV2387737	single nucleotide variant	NM_001497.4(B4GALT1):c.445G>A (p.Val149Met)	Inborn genetic diseases [RCV002758788]	uncertain significance	9	33135392	33135392	Human	1	name
243064883	CV2409441	single nucleotide variant	NM_001497.4(B4GALT1):c.487A>G (p.Met163Val)	Inborn genetic diseases [RCV003358152]\|not provided [RCV003487316]	likely benign\|uncertain significance	9	33135350	33135350	Human	1	name
401762054	CV2699503	single nucleotide variant	NM_001497.4(B4GALT1):c.814G>A (p.Ala272Thr)	Inborn genetic diseases [RCV003281065]	uncertain significance	9	33120441	33120441	Human	1	name
401770233	CV2715091	single nucleotide variant	NM_001497.4(B4GALT1):c.703G>A (p.Ala235Thr)	Inborn genetic diseases [RCV003303947]	uncertain significance	9	33120552	33120552	Human	1	name
401884338	CV2761672	single nucleotide variant	NM_001497.4(B4GALT1):c.513C>G (p.Asp171Glu)	Inborn genetic diseases [RCV003366151]\|not provided [RCV004723279]	uncertain significance	9	33135324	33135324	Human	1	name
405216490	CV2911429	single nucleotide variant	NM_001497.4(B4GALT1):c.757C>G (p.Pro253Ala)	not provided [RCV003567849]	likely benign	9	33120498	33120498	Human		name
8565521	CV31268	duplication	NM_001497.4(B4GALT1):c.1031dup (p.Arg345fs)	B4GALT1-congenital disorder of glycosylation [RCV000017616]	pathogenic	9	33113806	33113807	Human	1	name , trait , alternate_id
11603548	CV318458	single nucleotide variant	NM_001497.3(B4GALT1):c.892C>G (p.Leu298Val)	Congenital disorder of glycosylation [RCV000300936]	uncertain significance	9	33116058	33116058	Human		name
11600572	CV318459	single nucleotide variant	NM_001497.4(B4GALT1):c.770A>G (p.His257Arg)	B4GALT1-related disorder [RCV003950300]\|Inborn genetic diseases [RCV002523790]\|not provided [RCV000918400]	benign\|likely benign\|uncertain significance	9	33120485	33120485	Human	2	name , trait , alternate_id
11602530	CV318463	single nucleotide variant	NM_001497.4(B4GALT1):c.328C>A (p.Pro110Thr)	not provided [RCV001066156]	uncertain significance	9	33166842	33166842	Human		name
11609353	CV318957	single nucleotide variant	NM_001497.4(B4GALT1):c.776C>T (p.Ala259Val)	Inborn genetic diseases [RCV002757327]	uncertain significance	9	33120479	33120479	Human	1	name
11606031	CV318973	single nucleotide variant	NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)	B4GALT1-congenital disorder of glycosylation [RCV003225724]\|Congenital disorder of glycosylation [RCV000326771]\|not provided [RCV001245732]\|not specified [RCV002230210]	uncertain significance	9	33166778	33166778	Human	2	name , trait , alternate_id
405690513	CV3290692	single nucleotide variant	NM_001497.4(B4GALT1):c.575A>C (p.Lys192Thr)	Inborn genetic diseases [RCV004423605]	uncertain significance	9	33135262	33135262	Human	1	name
407479188	CV3423501	single nucleotide variant	NM_001497.4(B4GALT1):c.746T>C (p.Val249Ala)	Inborn genetic diseases [RCV004601922]	uncertain significance	9	33120509	33120509	Human	1	name
407479216	CV3423511	single nucleotide variant	NM_001497.4(B4GALT1):c.460G>A (p.Val154Met)	Inborn genetic diseases [RCV004601929]	uncertain significance	9	33135377	33135377	Human	1	name
407479077	CV3427400	single nucleotide variant	NM_001497.4(B4GALT1):c.431A>C (p.Glu144Ala)	Inborn genetic diseases [RCV004601888]	uncertain significance	9	33135406	33135406	Human	1	name
407468524	CV3427409	single nucleotide variant	NM_001497.4(B4GALT1):c.391C>T (p.Pro131Ser)	Inborn genetic diseases [RCV004614728]	uncertain significance	9	33166779	33166779	Human	1	name
407479131	CV3427419	single nucleotide variant	NM_001497.4(B4GALT1):c.817A>T (p.Met273Leu)	Inborn genetic diseases [RCV004601902]	uncertain significance	9	33120438	33120438	Human	1	name
597631441	CV3627971	single nucleotide variant	NM_001497.4(B4GALT1):c.790T>C (p.Ser264Pro)	Inborn genetic diseases [RCV004967700]	uncertain significance	9	33120465	33120465	Human	1	name
597631447	CV3628001	single nucleotide variant	NM_001497.4(B4GALT1):c.625T>C (p.Tyr209His)	Inborn genetic diseases [RCV004967703]	uncertain significance	9	33135212	33135212	Human	1	name
597625784	CV3628013	single nucleotide variant	NM_001497.4(B4GALT1):c.730T>C (p.Phe244Leu)	Inborn genetic diseases [RCV004964768]	uncertain significance	9	33120525	33120525	Human	1	name
126729353	CV985821	single nucleotide variant	NM_001497.4(B4GALT1):c.579C>G (p.Tyr193Ter)	B4GALT1-congenital disorder of glycosylation [RCV001293779]	pathogenic	9	33135258	33135258	Human	1	name , trait , alternate_id
8640695	CV99681	single nucleotide variant	NM_001497.4(B4GALT1):c.517G>A (p.Val173Ile)	not provided [RCV000079716]	uncertain significance	9	33135320	33135320	Human		name
155993897	CV1890718	single nucleotide variant	NM_001497.4(B4GALT1):c.1149A>T (p.Arg383Ser)	not provided [RCV003076246]	uncertain significance	9	33113502	33113502	Human		name
156047914	CV2244964	single nucleotide variant	NM_001497.4(B4GALT1):c.1112T>G (p.Leu371Trp)	Inborn genetic diseases [RCV002781845]	uncertain significance	9	33113539	33113539	Human	1	name
156173509	CV2247604	single nucleotide variant	NM_001497.4(B4GALT1):c.1194C>G (p.Ser398Arg)	Inborn genetic diseases [RCV002788196]	uncertain significance	9	33113457	33113457	Human	1	name
329394011	CV2450019	single nucleotide variant	NM_001497.4(B4GALT1):c.1096A>G (p.Met366Val)	Inborn genetic diseases [RCV003193463]	uncertain significance	9	33113555	33113555	Human	1	name
329847864	CV2534493	single nucleotide variant	NM_001497.4(B4GALT1):c.1055A>G (p.Asn352Ser)	Combined low LDL and fibrinogen [RCV003228703]	pathogenic	9	33113783	33113783	Human		name
11612391	CV312587	single nucleotide variant	NM_001497.3(B4GALT1):c.1073G>A (p.Arg358Gln)	Congenital disorder of glycosylation [RCV000408398]	uncertain significance	9	33113578	33113578	Human		name
597631574	CV3627981	single nucleotide variant	NM_001497.4(B4GALT1):c.1142T>C (p.Val381Ala)	Inborn genetic diseases [RCV004967701]	uncertain significance	9	33113509	33113509	Human	1	name
13475963	CV444473	single nucleotide variant	NM_001497.4(B4GALT1):c.1096A>T (p.Met366Leu)	not provided [RCV000520027]	uncertain significance	9	33113555	33113555	Human		name
38495568	CV955802	single nucleotide variant	NM_001497.4(B4GALT1):c.1130A>G (p.Gln377Arg)	not provided [RCV001242018]	uncertain significance	9	33113521	33113521	Human		name
11639356	CV265832	indel	NM_001497.4(B4GALT1):c.864_867delinsGGTG (p.Gly288_Val289=)	not provided [RCV000319555]	uncertain significance	9	33116083	33116086	Human		name

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