Upb1 Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

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

219 records found for search term Upb1

Refine Term:

Assembly:

Chr

Sort By:

Export

CSV

TAB

RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405260627	CV3204173	single nucleotide variant	NM_016327.3(UPB1):c.*4G>A	UPB1-related disorder [RCV003944037]	likely benign	22	24525798	24525798	Human		name , trait , alternate_id
405283186	CV3218465	single nucleotide variant	NM_016327.3(UPB1):c.*2C>A	UPB1-related disorder [RCV003957262]	likely benign	22	24525796	24525796	Human		name , trait , alternate_id
11630464	CV347206	single nucleotide variant	NM_016327.3(UPB1):c.-7C>G	Deficiency of beta-ureidopropionase [RCV000349952]	likely benign\|uncertain significance	22	24495397	24495397	Human	1	name
28883839	CV890954	single nucleotide variant	NM_016327.3(UPB1):c.*3G>A	Deficiency of beta-ureidopropionase [RCV001150381]	benign	22	24525797	24525797	Human	1	name
8646559	CV106032	single nucleotide variant	NM_016327.3(UPB1):c.-17A>T	Deficiency of beta-ureidopropionase [RCV000402048]\|not provided [RCV000086538]	benign\|not provided	22	24495387	24495388	Human	4	name
8646559	CV106032	single nucleotide variant	NM_016327.3(UPB1):c.-17A>T	Deficiency of beta-ureidopropionase [RCV000402048]\|not provided [RCV000086538]	benign\|not provided	22	24495387	24495387	Human	4	name
11621256	CV337627	single nucleotide variant	NM_016327.3(UPB1):c.-27G>C	Deficiency of beta-ureidopropionase [RCV000346235]	uncertain significance	22	24495377	24495377	Human	1	name
11616244	CV337635	single nucleotide variant	NM_016327.3(UPB1):c.-11G>A	Deficiency of beta-ureidopropionase [RCV000292674]	uncertain significance	22	24495393	24495393	Human	1	name
11624444	CV337641	single nucleotide variant	NM_016327.3(UPB1):c.*23G>A	Deficiency of beta-ureidopropionase [RCV000385911]	uncertain significance	22	24525817	24525817	Human	1	name
11661922	CV351205	single nucleotide variant	NM_016327.3(UPB1):c.-65T>C	Deficiency of beta-ureidopropionase [RCV000381136]	uncertain significance	22	24495339	24495339	Human	1	name
11627819	CV351206	single nucleotide variant	NM_016327.3(UPB1):c.-63C>T	Deficiency of beta-ureidopropionase [RCV000288983]	likely benign\|uncertain significance	22	24495341	24495341	Human	1	name
28871667	CV890940	single nucleotide variant	NM_016327.2(UPB1):c.-79C>T	Deficiency of beta-ureidopropionase [RCV001145962]	uncertain significance	22	24495325	24495325	Human	1	name
28878627	CV890941	single nucleotide variant	NM_016327.3(UPB1):c.-61C>T	Deficiency of beta-ureidopropionase [RCV001148746]	uncertain significance	22	24495343	24495343	Human	1	name
28883842	CV890955	single nucleotide variant	NM_016327.3(UPB1):c.*10G>A	Deficiency of beta-ureidopropionase [RCV001150382]	uncertain significance	22	24525804	24525804	Human	1	name
28883845	CV890956	single nucleotide variant	NM_016327.3(UPB1):c.*93A>G	Deficiency of beta-ureidopropionase [RCV001150383]	uncertain significance	22	24525887	24525887	Human	1	name
11630507	CV351219	single nucleotide variant	NM_016327.3(UPB1):c.*398G>C	Deficiency of beta-ureidopropionase [RCV000351223]	uncertain significance	22	24526192	24526192	Human	1	name
11632425	CV351220	single nucleotide variant	NM_016327.3(UPB1):c.*652A>T	Deficiency of beta-ureidopropionase [RCV000408401]	uncertain significance	22	24526446	24526446	Human	1	name
11650646	CV352223	duplication	NM_016327.3(UPB1):c.*296dup	Deficiency of beta-ureidopropionase [RCV000293946]	benign	22	24526079	24526080	Human	1	name
11631844	CV352225	single nucleotide variant	NM_016327.3(UPB1):c.*505A>G	Deficiency of beta-ureidopropionase [RCV000389484]	uncertain significance	22	24526299	24526299	Human	1	name
11629899	CV352235	single nucleotide variant	NM_016327.3(UPB1):c.*619C>T	Deficiency of beta-ureidopropionase [RCV000336402]	uncertain significance	22	24526413	24526413	Human	1	name
11628450	CV352236	single nucleotide variant	NM_016327.3(UPB1):c.*690T>G	Deficiency of beta-ureidopropionase [RCV000301290]\|not provided [RCV004712258]	benign	22	24526484	24526484	Human	1	name
28883850	CV890957	single nucleotide variant	NM_016327.3(UPB1):c.*179A>C	Deficiency of beta-ureidopropionase [RCV001150384]	uncertain significance	22	24525973	24525973	Human	1	name
28883853	CV890958	single nucleotide variant	NM_016327.3(UPB1):c.*356G>A	Deficiency of beta-ureidopropionase [RCV001150385]	likely benign	22	24526150	24526150	Human	1	name
28904023	CV890959	single nucleotide variant	NM_016327.3(UPB1):c.*549A>C	Deficiency of beta-ureidopropionase [RCV001144290]	uncertain significance	22	24526343	24526343	Human	1	name
127253295	CV1056663	single nucleotide variant	NM_016327.3(UPB1):c.364+1G>C	not provided [RCV001378929]	likely pathogenic	22	24502214	24502214	Human		name
8646565	CV106038	single nucleotide variant	NM_016327.3(UPB1):c.873+9C>T	Deficiency of beta-ureidopropionase [RCV000360133]\|not provided [RCV000086545]	benign\|likely benign\|uncertain significance\|not provided	22	24520477	24520477	Human	1	name
150418839	CV1199327	duplication	NM_016327.3(UPB1):c.873+2dup	not provided [RCV001576914]\|not specified [RCV004782767]	uncertain significance	22	24520469	24520470	Human		name
150545444	CV1315592	single nucleotide variant	NM_016327.3(UPB1):c.873+2T>A	Deficiency of beta-ureidopropionase [RCV001784010]	likely pathogenic	22	24520470	24520470	Human		name
151837266	CV1371554	single nucleotide variant	NM_016327.3(UPB1):c.873+5G>A	not provided [RCV001921117]	uncertain significance	22	24520473	24520473	Human		name
151774448	CV1424151	single nucleotide variant	NM_016327.3(UPB1):c.916+4T>C	not provided [RCV002025675]	uncertain significance	22	24522032	24522032	Human		name
152076670	CV1591942	single nucleotide variant	NM_016327.3(UPB1):c.365-8A>G	not provided [RCV002112198]	likely benign	22	24510741	24510741	Human		name
152064071	CV1644913	single nucleotide variant	NM_016327.3(UPB1):c.792-5T>C	not provided [RCV002147158]	likely benign	22	24520382	24520382	Human		name
153348336	CV1695368	single nucleotide variant	NM_016327.3(UPB1):c.364+6T>G	Deficiency of beta-ureidopropionase [RCV002279889]	pathogenic	22	24502219	24502219	Human	1	name
8557919	CV19186	single nucleotide variant	NM_016327.3(UPB1):c.105-2A>G	Deficiency of beta-ureidopropionase [RCV000004363]\|Inborn genetic diseases [RCV002512751]\|UPB1-related disorder [RCV004751199]\|not provided [RCV001384579]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	24500105	24500105	Human	2	name , trait , alternate_id
8557920	CV19187	single nucleotide variant	NM_016327.3(UPB1):c.917-2A>G	Deficiency of beta-ureidopropionase [RCV000004364]	pathogenic	22	24523617	24523617	Human		name
156071922	CV2028926	single nucleotide variant	NM_016327.3(UPB1):c.792-3C>T	not provided [RCV002760346]	uncertain significance	22	24520384	24520384	Human		name
155971552	CV2139766	single nucleotide variant	NM_016327.3(UPB1):c.105-6A>G	not provided [RCV002995650]	likely benign	22	24500101	24500101	Human		name
155954810	CV2143900	single nucleotide variant	NM_016327.3(UPB1):c.791+5C>G	not provided [RCV002994834]	uncertain significance	22	24515375	24515375	Human		name
11579426	CV264981	single nucleotide variant	NM_016327.3(UPB1):c.873+1G>A	Deficiency of beta-ureidopropionase [RCV001334907]\|not provided [RCV000303418]	pathogenic\|likely pathogenic	22	24520469	24520469	Human	1	name
405069388	CV2876337	duplication	NM_016327.3(UPB1):c.874-9dup	not provided [RCV003548436]	likely benign	22	24521976	24521977	Human		name
13462408	CV439218	single nucleotide variant	NM_016327.3(UPB1):c.917-1G>A	Deficiency of beta-ureidopropionase [RCV000763075]\|Inborn genetic diseases [RCV002528233]\|UPB1-related disorder [RCV003424067]\|not provided [RCV000514100]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	24523618	24523618	Human	8	name , trait , alternate_id
13462408	CV439218	single nucleotide variant	NM_016327.3(UPB1):c.917-1G>A	Deficiency of beta-ureidopropionase [RCV000763075]\|Inborn genetic diseases [RCV002528233]\|UPB1-related disorder [RCV003424067]\|not provided [RCV000514100]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	24523618	24523619	Human	8	name , trait , alternate_id
13832261	CV582753	single nucleotide variant	NM_016327.3(UPB1):c.364+1G>A	not provided [RCV000722946]	uncertain significance	22	24502214	24502214	Human		name
8646560	CV106033	single nucleotide variant	NM_016327.3(UPB1):c.105-61A>G	not provided [RCV000086539]	not provided	22	24500046	24500046	Human		name
8646562	CV106035	single nucleotide variant	NM_016327.3(UPB1):c.365-67G>A	not provided [RCV000086542]	not provided	22	24510682	24510682	Human		name
8646566	CV106039	single nucleotide variant	NM_016327.3(UPB1):c.874-64A>G	not provided [RCV000086546]	not provided	22	24521922	24521922	Human		name
152105708	CV1614733	single nucleotide variant	NM_016327.3(UPB1):c.792-16T>C	not provided [RCV002079580]	benign	22	24520371	24520371	Human		name
152116018	CV1653700	single nucleotide variant	NM_016327.3(UPB1):c.917-11T>C	not provided [RCV002153665]	likely benign	22	24523608	24523608	Human		name
156374325	CV1963267	single nucleotide variant	NM_016327.3(UPB1):c.916+11T>C	not provided [RCV002582670]	likely benign	22	24522039	24522039	Human		name
156107363	CV1996751	single nucleotide variant	NM_016327.3(UPB1):c.917-15T>G	not provided [RCV002662348]	likely benign	22	24523604	24523604	Human		name
156332496	CV2000681	single nucleotide variant	NM_016327.3(UPB1):c.1071+6T>C	not provided [RCV002649898]	uncertain significance	22	24523779	24523779	Human		name
155903767	CV2127135	single nucleotide variant	NM_016327.3(UPB1):c.460-13A>G	not provided [RCV002967583]	likely benign	22	24513311	24513311	Human		name
405091795	CV2859362	single nucleotide variant	NM_016327.3(UPB1):c.276+20T>C	not provided [RCV003549857]	likely benign	22	24500298	24500298	Human		name
405050957	CV2886995	single nucleotide variant	NM_016327.3(UPB1):c.874-12C>T	not provided [RCV003579691]	likely benign	22	24521974	24521974	Human		name
405139438	CV3125475	single nucleotide variant	NM_016327.3(UPB1):c.917-20G>A	not provided [RCV003816582]	likely benign	22	24523599	24523599	Human		name
405167270	CV3125741	single nucleotide variant	NM_016327.3(UPB1):c.365-19C>T	not provided [RCV003818824]	likely benign	22	24510730	24510730	Human		name
597830236	CV3742935	single nucleotide variant	NM_016327.3(UPB1):c.621+13T>A	not provided [RCV005061943]	likely benign	22	24513498	24513498	Human		name
597846885	CV3761946	single nucleotide variant	NM_016327.3(UPB1):c.873+15C>T	not provided [RCV005087364]	likely benign	22	24520483	24520483	Human		name
597907431	CV3773213	single nucleotide variant	NM_016327.3(UPB1):c.873+10G>A	not provided [RCV005113278]	likely benign	22	24520478	24520478	Human		name
597884486	CV3834951	single nucleotide variant	NM_016327.3(UPB1):c.621+17A>G	not provided [RCV005178675]	likely benign	22	24513502	24513502	Human		name
401921862	CV2822061	single nucleotide variant	NM_016327.3(UPB1):c.364+188T>G	not provided [RCV003433188]	likely benign	22	24502401	24502401	Human		name
28878988	CV891812	single nucleotide variant	NM_016327.3(UPB1):c.1071+10C>T	Deficiency of beta-ureidopropionase [RCV001148857]\|not provided [RCV002557196]	likely benign\|uncertain significance	22	24523783	24523783	Human	1	name
11647934	CV352234	microsatellite	NM_016327.3(UPB1):c.*548AAGT[1]	Deficiency of beta-ureidopropionase [RCV000279049]	uncertain significance	22	24526341	24526344	Human		name
152144398	CV1616244	single nucleotide variant	NM_016327.3(UPB1):c.9C>T (p.Gly3=)	not provided [RCV002120813]	likely benign	22	24495412	24495412	Human		name
153348338	CV1695372	duplication	NM_016327.3(UPB1):c.916+1_916+2dup	Deficiency of beta-ureidopropionase [RCV002279891]	pathogenic	22	24522028	24522029	Human	1	name
152052196	CV1658953	single nucleotide variant	NM_016327.3(UPB1):c.25C>T (p.Leu9=)	not provided [RCV002189552]	likely benign	22	24495428	24495428	Human		name
150547431	CV1292023	single nucleotide variant	NM_016327.3(UPB1):c.5C>G (p.Ala2Gly)	Deficiency of beta-ureidopropionase [RCV001733689]\|not provided [RCV005428415]	uncertain significance	22	24495408	24495408	Human	1	name
156174371	CV2188383	deletion	NM_016327.3(UPB1):c.916+6_916+181del	not provided [RCV003041132]	uncertain significance	22	24522033	24522208	Human		name
597940189	CV3836627	single nucleotide variant	NM_016327.3(UPB1):c.90T>C (p.Tyr30=)	not provided [RCV005187648]	likely benign	22	24495493	24495493	Human		name
28878629	CV890942	single nucleotide variant	NM_016327.3(UPB1):c.54G>A (p.Pro18=)	Deficiency of beta-ureidopropionase [RCV001148747]\|not provided [RCV002557191]	likely benign\|uncertain significance	22	24495457	24495457	Human	1	name
156341143	CV1961727	single nucleotide variant	NM_016327.3(UPB1):c.117G>A (p.Leu39=)	not provided [RCV002580512]	likely benign	22	24500119	24500119	Human		name
156162942	CV1989789	single nucleotide variant	NM_016327.3(UPB1):c.291T>C (p.His97=)	not provided [RCV002642477]	likely benign	22	24502140	24502140	Human		name
156263532	CV2170015	deletion	NM_016327.3(UPB1):c.97del (p.Glu33fs)	not provided [RCV003026738]	pathogenic	22	24495499	24495499	Human		name
401830744	CV2748392	deletion	NM_016327.3(UPB1):c.47del (p.His16fs)	not provided [RCV003330001]	likely pathogenic	22	24495450	24495450	Human		name
405063152	CV3129609	single nucleotide variant	NM_016327.3(UPB1):c.252C>T (p.Pro84=)	not provided [RCV003832878]	likely benign	22	24500254	24500254	Human		name
11632384	CV351208	single nucleotide variant	NM_016327.3(UPB1):c.26T>C (p.Leu9Pro)	Deficiency of beta-ureidopropionase [RCV000406876]\|not provided [RCV001861195]	uncertain significance	22	24495429	24495429	Human	1	name
12848977	CV364030	single nucleotide variant	NM_016327.3(UPB1):c.10G>A (p.Ala4Thr)	not provided [RCV000421814]	uncertain significance	22	24495413	24495413	Human		name
597838583	CV3824835	single nucleotide variant	NM_016327.3(UPB1):c.279C>T (p.Val93=)	not provided [RCV005171699]	likely benign	22	24502128	24502128	Human		name
15158232	CV742802	single nucleotide variant	NM_016327.3(UPB1):c.219C>T (p.His73=)	not provided [RCV000902692]	likely benign	22	24500221	24500221	Human		name
28883590	CV890944	single nucleotide variant	NM_016327.3(UPB1):c.225G>T (p.Gly75=)	Deficiency of beta-ureidopropionase [RCV001150305]\|not provided [RCV002070821]	likely benign\|uncertain significance	22	24500227	24500227	Human	1	name
126738383	CV1018798	single nucleotide variant	NM_016327.3(UPB1):c.38T>C (p.Leu13Ser)	Deficiency of beta-ureidopropionase [RCV001328948]\|Inborn genetic diseases [RCV002546291]\|not provided [RCV001567909]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	24495441	24495441	Human	2	name
8646563	CV106036	single nucleotide variant	NM_016327.3(UPB1):c.702C>T (p.Tyr234=)	Deficiency of beta-ureidopropionase [RCV001144172]\|UPB1-related disorder [RCV004751261]\|not provided [RCV000086543]	benign\|not provided	22	24515281	24515281	Human	1	name , trait , alternate_id
8646564	CV106037	single nucleotide variant	NM_016327.3(UPB1):c.846C>T (p.Phe282=)	Deficiency of beta-ureidopropionase [RCV000303080]\|not provided [RCV000086544]	benign\|uncertain significance\|not provided	22	24520441	24520441	Human	1	name
8646567	CV106040	single nucleotide variant	NM_016327.3(UPB1):c.957G>A (p.Val319=)	Deficiency of beta-ureidopropionase [RCV001148855]\|UPB1-related disorder [RCV003925096]\|not provided [RCV000086547]	benign\|likely benign\|not provided	22	24523659	24523659	Human	1	name , trait , alternate_id
8646568	CV106041	single nucleotide variant	NM_016327.3(UPB1):c.976C>A (p.Arg326=)	Deficiency of beta-ureidopropionase [RCV000382705]\|not provided [RCV000086548]	benign\|uncertain significance\|not provided	22	24523678	24523678	Human	1	name
151722370	CV1498045	single nucleotide variant	NM_016327.3(UPB1):c.59C>T (p.Pro20Leu)	not provided [RCV001983272]	uncertain significance	22	24495462	24495462	Human		name
152045088	CV1534607	single nucleotide variant	NM_016327.3(UPB1):c.309C>T (p.Ile103=)	not provided [RCV002088457]	likely benign	22	24502158	24502158	Human		name
152029646	CV1568373	single nucleotide variant	NM_016327.3(UPB1):c.657C>T (p.Pro219=)	not provided [RCV002105658]	likely benign	22	24515236	24515236	Human		name
152172331	CV1599080	single nucleotide variant	NM_016327.3(UPB1):c.399T>G (p.Leu133=)	not provided [RCV002143742]	likely benign	22	24510783	24510783	Human		name
152165895	CV1612754	single nucleotide variant	NM_016327.3(UPB1):c.669G>A (p.Thr223=)	not provided [RCV002160537]	likely benign	22	24515248	24515248	Human		name
152108407	CV1634861	single nucleotide variant	NM_016327.3(UPB1):c.810C>T (p.Ile270=)	not provided [RCV002079915]	likely benign	22	24520405	24520405	Human		name
152072092	CV1643671	single nucleotide variant	NM_016327.3(UPB1):c.855C>T (p.Ala285=)	not provided [RCV002111594]	likely benign	22	24520450	24520450	Human		name
156316052	CV1903578	single nucleotide variant	NM_016327.3(UPB1):c.807C>T (p.Pro269=)	not provided [RCV003088726]	likely benign	22	24520402	24520402	Human		name
156418283	CV1914669	single nucleotide variant	NM_016327.3(UPB1):c.573G>A (p.Leu191=)	not provided [RCV002611463]	likely benign	22	24513437	24513437	Human		name
156200242	CV1916724	single nucleotide variant	NM_016327.3(UPB1):c.465G>A (p.Ala155=)	not provided [RCV002595677]	likely benign	22	24513329	24513329	Human		name
156446781	CV1948135	single nucleotide variant	NM_016327.3(UPB1):c.543C>T (p.Ala181=)	not provided [RCV003118297]	likely benign	22	24513407	24513407	Human		name
156446263	CV1951300	single nucleotide variant	NM_016327.3(UPB1):c.954T>C (p.Tyr318=)	not provided [RCV003117234]	likely benign	22	24523656	24523656	Human		name
156105774	CV2061208	single nucleotide variant	NM_016327.3(UPB1):c.834C>T (p.Ala278=)	not provided [RCV002824723]	likely benign	22	24520429	24520429	Human		name
155964990	CV2134756	single nucleotide variant	NM_016327.3(UPB1):c.62A>T (p.Asp21Val)	Inborn genetic diseases [RCV003170789]\|not provided [RCV002972567]	uncertain significance	22	24495465	24495465	Human	1	name
156344070	CV2176184	single nucleotide variant	NM_016327.3(UPB1):c.690G>A (p.Val230=)	not provided [RCV003030458]	uncertain significance	22	24515269	24515269	Human		name
401925992	CV2822062	single nucleotide variant	NM_016327.3(UPB1):c.744C>T (p.Asn248=)	not provided [RCV003437535]	likely benign	22	24515323	24515323	Human		name
405227086	CV2892479	single nucleotide variant	NM_016327.3(UPB1):c.771G>A (p.Ser257=)	not provided [RCV003554746]	likely benign	22	24515350	24515350	Human		name
405287160	CV3205578	single nucleotide variant	NM_016327.3(UPB1):c.873C>A (p.Thr291=)	UPB1-related disorder [RCV003959720]	likely benign	22	24520468	24520468	Human		name , trait , alternate_id
405810226	CV3345177	single nucleotide variant	NM_016327.3(UPB1):c.41A>G (p.Glu14Gly)	Inborn genetic diseases [RCV004482137]	uncertain significance	22	24495444	24495444	Human	1	name
405854390	CV3393020	deletion	NM_016327.3(UPB1):c.254del (p.Ala85fs)	Deficiency of beta-ureidopropionase [RCV004527177]	pathogenic	22	24500256	24500256	Human	1	name
11628325	CV347207	single nucleotide variant	NM_016327.3(UPB1):c.384T>C (p.Cys128=)	Deficiency of beta-ureidopropionase [RCV000299275]\|not provided [RCV005090544]	benign\|uncertain significance	22	24510768	24510768	Human	1	name
11632295	CV352222	single nucleotide variant	NM_016327.3(UPB1):c.354G>A (p.Gln118=)	Deficiency of beta-ureidopropionase [RCV000403430]\|not provided [RCV002523209]	likely benign\|uncertain significance	22	24502203	24502203	Human	1	name
597642099	CV3629144	single nucleotide variant	NM_016327.3(UPB1):c.70G>A (p.Glu24Lys)	Inborn genetic diseases [RCV004971868]	uncertain significance	22	24495473	24495473	Human	1	name
597850632	CV3746926	single nucleotide variant	NM_016327.3(UPB1):c.885G>A (p.Pro295=)	not provided [RCV005060554]	likely benign	22	24521997	24521997	Human		name
597894189	CV3810016	single nucleotide variant	NM_016327.3(UPB1):c.729T>C (p.Leu243=)	not provided [RCV005151737]	likely benign	22	24515308	24515308	Human		name
597957135	CV3838435	single nucleotide variant	NM_016327.3(UPB1):c.687G>A (p.Ala229=)	not provided [RCV005191810]	likely benign	22	24515266	24515266	Human		name
597897686	CV3854416	single nucleotide variant	NM_016327.3(UPB1):c.663C>T (p.Phe221=)	not provided [RCV005201523]	likely benign	22	24515242	24515242	Human		name
617149720	CV4021309	single nucleotide variant	NM_016327.3(UPB1):c.53C>T (p.Pro18Leu)	not provided [RCV005425278]	uncertain significance	22	24495456	24495456	Human		name
13462103	CV438924	single nucleotide variant	NM_016327.3(UPB1):c.91G>A (p.Gly31Ser)	Deficiency of beta-ureidopropionase [RCV000765616]\|not provided [RCV000513730]	conflicting interpretations of pathogenicity\|uncertain significance	22	24495494	24495494	Human	1	name
15121295	CV717366	single nucleotide variant	NM_016327.3(UPB1):c.82G>A (p.Val28Ile)	Deficiency of beta-ureidopropionase [RCV001150303]\|not provided [RCV000962867]	likely benign	22	24495485	24495485	Human	1	name
15194554	CV729082	single nucleotide variant	NM_016327.3(UPB1):c.888C>T (p.Asn296=)	not provided [RCV000889254]	likely benign	22	24522000	24522000	Human		name
21073247	CV792023	single nucleotide variant	NM_016327.3(UPB1):c.47A>C (p.His16Pro)	Deficiency of beta-ureidopropionase [RCV000990384]	likely benign	22	24495450	24495450	Human	1	name
28903721	CV890946	single nucleotide variant	NM_016327.3(UPB1):c.387G>A (p.Thr129=)	Deficiency of beta-ureidopropionase [RCV001144169]\|not provided [RCV002557072]	likely benign\|uncertain significance	22	24510771	24510771	Human	1	name
28903725	CV890948	single nucleotide variant	NM_016327.3(UPB1):c.684C>T (p.Ile228=)	Deficiency of beta-ureidopropionase [RCV001144171]\|not provided [RCV002070737]	likely benign\|uncertain significance	22	24515263	24515263	Human	1	name
28871906	CV890949	single nucleotide variant	NM_016327.3(UPB1):c.792C>T (p.Ser264=)	Deficiency of beta-ureidopropionase [RCV001146061]\|not provided [RCV001772341]	uncertain significance	22	24520387	24520387	Human	1	name
28871910	CV890950	single nucleotide variant	NM_016327.3(UPB1):c.822C>T (p.Asn274=)	Deficiency of beta-ureidopropionase [RCV001146062]	uncertain significance	22	24520417	24520417	Human	1	name
28871911	CV890951	single nucleotide variant	NM_016327.3(UPB1):c.903A>G (p.Gly301=)	Deficiency of beta-ureidopropionase [RCV001146063]\|not provided [RCV002557125]	likely benign\|uncertain significance	22	24522015	24522015	Human	1	name
126738391	CV1018799	deletion	NM_016327.3(UPB1):c.807del (p.Ile270fs)	not provided [RCV001772662]	pathogenic\|uncertain significance	22	24520400	24520400	Human		name
8646561	CV106034	single nucleotide variant	NM_016327.3(UPB1):c.143C>G (p.Ser48Cys)	not provided [RCV000086540]	uncertain significance\|not provided	22	24500145	24500145	Human		name
151760465	CV1357997	single nucleotide variant	NM_016327.3(UPB1):c.127G>A (p.Ala43Thr)	not provided [RCV001928449]	uncertain significance	22	24500129	24500129	Human		name
151846557	CV1483803	deletion	NM_016327.3(UPB1):c.674del (p.Phe225fs)	not provided [RCV001903513]	pathogenic	22	24515252	24515252	Human		name
153301921	CV1687975	deletion	NM_016327.3(UPB1):c.357del (p.Ala120fs)	Deficiency of beta-ureidopropionase [RCV005239337]\|not provided [RCV002265201]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	24502205	24502205	Human	1	name
156363410	CV1900830	single nucleotide variant	NM_016327.3(UPB1):c.185C>T (p.Ala62Val)	not provided [RCV002581891]	uncertain significance	22	24500187	24500187	Human		name
8596305	CV19188	single nucleotide variant	NM_016327.3(UPB1):c.254C>A (p.Ala85Glu)	Deficiency of beta-ureidopropionase [RCV000004365]\|not provided [RCV000086541]\|not specified [RCV000455167]	pathogenic\|benign\|likely benign\|uncertain significance\|not provided	22	24500256	24500256	Human	1	name
8596306	CV19189	single nucleotide variant	NM_016327.3(UPB1):c.209G>C (p.Arg70Pro)	Deficiency of beta-ureidopropionase [RCV000004366]	pathogenic\|uncertain significance	22	24500211	24500211	Human	1	name
156098570	CV1920580	single nucleotide variant	NM_016327.3(UPB1):c.1077G>A (p.Thr359=)	not provided [RCV002592186]	likely benign	22	24525716	24525716	Human		name
156389382	CV1955190	single nucleotide variant	NM_016327.3(UPB1):c.191A>G (p.Glu64Gly)	not provided [RCV002583736]	uncertain significance	22	24500193	24500193	Human		name
156221859	CV1960275	single nucleotide variant	NM_016327.3(UPB1):c.208C>T (p.Arg70Cys)	Inborn genetic diseases [RCV002582792]\|not provided [RCV002575558]	uncertain significance	22	24500210	24500210	Human	1	name
156416047	CV1966424	single nucleotide variant	NM_016327.3(UPB1):c.1110C>T (p.Ala370=)	not provided [RCV002589500]	likely benign	22	24525749	24525749	Human		name
156336026	CV1997165	single nucleotide variant	NM_016327.3(UPB1):c.193C>T (p.Gln65Ter)	not provided [RCV002650074]	pathogenic	22	24500195	24500195	Human		name
156116573	CV2015717	single nucleotide variant	NM_016327.3(UPB1):c.275A>G (p.Gln92Arg)	not provided [RCV002695873]	uncertain significance	22	24500277	24500277	Human		name
156144549	CV2037241	single nucleotide variant	NM_016327.3(UPB1):c.1095C>T (p.Tyr365=)	not provided [RCV002786641]	likely benign	22	24525734	24525734	Human		name
156245360	CV2044698	single nucleotide variant	NM_016327.3(UPB1):c.253G>A (p.Ala85Thr)	not provided [RCV002805821]	uncertain significance	22	24500255	24500255	Human		name
156377079	CV2124248	single nucleotide variant	NM_016327.3(UPB1):c.206C>T (p.Pro69Leu)	not provided [RCV002942818]	uncertain significance	22	24500208	24500208	Human		name
156137698	CV2186573	single nucleotide variant	NM_016327.3(UPB1):c.254C>T (p.Ala85Val)	not provided [RCV003056063]	uncertain significance	22	24500256	24500256	Human		name
156197460	CV2259269	deletion	NM_016327.3(UPB1):c.641del (p.Gly214fs)	Inborn genetic diseases [RCV002803237]	pathogenic	22	24515218	24515218	Human	1	name
329381595	CV2471307	single nucleotide variant	NM_016327.3(UPB1):c.133G>A (p.Glu45Lys)	Inborn genetic diseases [RCV003213144]	uncertain significance	22	24500135	24500135	Human	1	name
401733797	CV2713220	single nucleotide variant	NM_016327.3(UPB1):c.206C>G (p.Pro69Arg)	Inborn genetic diseases [RCV003272431]	uncertain significance	22	24500208	24500208	Human	1	name
11629622	CV347212	single nucleotide variant	NM_016327.3(UPB1):c.1122G>A (p.Lys374=)	Deficiency of beta-ureidopropionase [RCV000329229]\|UPB1-related disorder [RCV003957757]\|not provided [RCV000885439]	benign\|uncertain significance	22	24525761	24525761	Human	1	name , trait , alternate_id
407454831	CV3489409	single nucleotide variant	NM_016327.3(UPB1):c.286C>A (p.Leu96Ile)	Inborn genetic diseases [RCV004685253]	uncertain significance	22	24502135	24502135	Human	1	name
11629107	CV351211	single nucleotide variant	NM_016327.3(UPB1):c.142T>C (p.Ser48Pro)	Deficiency of beta-ureidopropionase [RCV000314960]	uncertain significance	22	24500144	24500144	Human	1	name
11629852	CV351212	single nucleotide variant	NM_016327.3(UPB1):c.296G>A (p.Arg99His)	Deficiency of beta-ureidopropionase [RCV000334304]	uncertain significance	22	24502145	24502145	Human	1	name
11626915	CV351216	single nucleotide variant	NM_016327.3(UPB1):c.1026C>T (p.Leu342=)	Deficiency of beta-ureidopropionase [RCV000271862]	uncertain significance	22	24523728	24523728	Human	1	name
13831956	CV582453	deletion	NM_016327.3(UPB1):c.671del (p.Gln224fs)	not provided [RCV000722641]	uncertain significance	22	24515250	24515250	Human		name
15177967	CV705837	single nucleotide variant	NM_016327.3(UPB1):c.1086T>C (p.Tyr362=)	Deficiency of beta-ureidopropionase [RCV001148858]\|not provided [RCV000951163]	benign	22	24525725	24525725	Human	1	name
15170270	CV717367	single nucleotide variant	NM_016327.3(UPB1):c.1107C>T (p.Leu369=)	Deficiency of beta-ureidopropionase [RCV001150380]\|UPB1-related disorder [RCV003972932]\|not provided [RCV000971980]	benign\|likely benign	22	24525746	24525746	Human	1	name , trait , alternate_id
28883585	CV890943	single nucleotide variant	NM_016327.3(UPB1):c.203G>A (p.Arg68Gln)	Deficiency of beta-ureidopropionase [RCV001150304]\|Inborn genetic diseases [RCV004963154]	uncertain significance	22	24500205	24500205	Human	2	name
127245797	CV1064959	single nucleotide variant	NM_016327.3(UPB1):c.352C>T (p.Gln118Ter)	not provided [RCV001384430]	pathogenic	22	24502201	24502201	Human		name
150545443	CV1315591	single nucleotide variant	NM_016327.3(UPB1):c.505C>T (p.Arg169Ter)	Deficiency of beta-ureidopropionase [RCV003989419]	likely pathogenic	22	24513369	24513369	Human	1	name
151663623	CV1334089	single nucleotide variant	NM_016327.3(UPB1):c.732G>A (p.Met244Ile)	Deficiency of beta-ureidopropionase [RCV001839263]\|Inborn genetic diseases [RCV004041040]	uncertain significance	22	24515311	24515311	Human	2	name
151794652	CV1393006	single nucleotide variant	NM_016327.3(UPB1):c.731T>A (p.Met244Lys)	not provided [RCV001952368]	uncertain significance	22	24515310	24515310	Human		name
151870522	CV1395558	single nucleotide variant	NM_016327.3(UPB1):c.562G>A (p.Gly188Arg)	not provided [RCV002035602]	uncertain significance	22	24513426	24513426	Human		name
151797077	CV1446561	single nucleotide variant	NM_016327.3(UPB1):c.853G>A (p.Ala285Thr)	not provided [RCV002027746]	uncertain significance	22	24520448	24520448	Human		name
151716421	CV1470631	single nucleotide variant	NM_016327.3(UPB1):c.884C>T (p.Pro295Leu)	not provided [RCV001909037]	uncertain significance	22	24521996	24521996	Human		name
151888435	CV1512711	single nucleotide variant	NM_016327.3(UPB1):c.754A>G (p.Ile252Val)	not provided [RCV001887961]	uncertain significance	22	24515333	24515333	Human		name
152167420	CV1557946	single nucleotide variant	NM_016327.3(UPB1):c.770C>T (p.Ser257Leu)	not provided [RCV002182165]	likely benign\|conflicting interpretations of pathogenicity	22	24515349	24515349	Human		name
153301919	CV1687974	single nucleotide variant	NM_016327.3(UPB1):c.506G>A (p.Arg169Gln)	not provided [RCV002265200]	uncertain significance	22	24513370	24513370	Human		name
156348281	CV1868577	single nucleotide variant	NM_016327.3(UPB1):c.703G>A (p.Gly235Arg)	not provided [RCV003064645]	uncertain significance	22	24515282	24515282	Human		name
156348297	CV1868578	single nucleotide variant	NM_016327.3(UPB1):c.811G>A (p.Glu271Lys)	not provided [RCV003064646]	likely pathogenic	22	24520406	24520406	Human		name
156364628	CV1897237	single nucleotide variant	NM_016327.3(UPB1):c.386C>T (p.Thr129Met)	Deficiency of beta-ureidopropionase [RCV005002019]\|not provided [RCV002581972]	likely pathogenic\|uncertain significance	22	24510770	24510770	Human	1	name
156362334	CV1931788	single nucleotide variant	NM_016327.3(UPB1):c.863G>A (p.Arg288Gln)	Inborn genetic diseases [RCV004070595]\|not provided [RCV002632764]	uncertain significance	22	24520458	24520458	Human	1	name
156101768	CV1960364	single nucleotide variant	NM_016327.3(UPB1):c.539C>T (p.Thr180Ile)	Inborn genetic diseases [RCV002570874]\|not provided [RCV002570873]	uncertain significance	22	24513403	24513403	Human	1	name
156151699	CV1967466	single nucleotide variant	NM_016327.3(UPB1):c.658G>A (p.Val220Met)	Inborn genetic diseases [RCV004965953]\|not provided [RCV002594165]	uncertain significance	22	24515237	24515237	Human	1	name
156323965	CV1976426	single nucleotide variant	NM_016327.3(UPB1):c.640G>A (p.Gly214Arg)	not provided [RCV002600412]	uncertain significance	22	24515219	24515219	Human		name
156181063	CV2068462	single nucleotide variant	NM_016327.3(UPB1):c.859A>T (p.Asn287Tyr)	not provided [RCV002851836]	uncertain significance	22	24520454	24520454	Human		name
156167427	CV2075353	single nucleotide variant	NM_016327.3(UPB1):c.472C>T (p.His158Tyr)	not provided [RCV002851426]	uncertain significance	22	24513336	24513336	Human		name
155908830	CV2131004	single nucleotide variant	NM_016327.3(UPB1):c.551T>A (p.Ile184Asn)	not provided [RCV002967892]	uncertain significance	22	24513415	24513415	Human		name
156232292	CV2184151	single nucleotide variant	NM_016327.3(UPB1):c.946T>G (p.Ser316Ala)	not provided [RCV003043132]	uncertain significance	22	24523648	24523648	Human		name
156030372	CV2202412	single nucleotide variant	NM_016327.3(UPB1):c.675C>G (p.Phe225Leu)	Inborn genetic diseases [RCV002691534]	uncertain significance	22	24515254	24515254	Human	1	name
156336793	CV2228590	single nucleotide variant	NM_016327.3(UPB1):c.464C>G (p.Ala155Gly)	Inborn genetic diseases [RCV002718646]	uncertain significance	22	24513328	24513328	Human	1	name
12901784	CV227414	single nucleotide variant	NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)	Deficiency of beta-ureidopropionase [RCV000490512]\|not provided [RCV000514134]\|not specified [RCV001449779]	conflicting interpretations of pathogenicity\|uncertain significance	22	24523679	24523679	Human	1	name
156035177	CV2376741	single nucleotide variant	NM_016327.3(UPB1):c.398T>G (p.Leu133Arg)	Inborn genetic diseases [RCV002703948]	uncertain significance	22	24510782	24510782	Human	1	name
401782753	CV2715961	single nucleotide variant	NM_016327.3(UPB1):c.488T>C (p.Val163Ala)	Inborn genetic diseases [RCV003309150]	uncertain significance	22	24513352	24513352	Human	1	name
401884287	CV2762843	single nucleotide variant	NM_016327.3(UPB1):c.994C>T (p.Arg332Cys)	Inborn genetic diseases [RCV003351249]\|not provided [RCV004809998]	uncertain significance	22	24523696	24523696	Human	1	name
401864154	CV2767515	single nucleotide variant	NM_016327.3(UPB1):c.303G>C (p.Lys101Asn)	Inborn genetic diseases [RCV003359265]	uncertain significance	22	24502152	24502152	Human	1	name
401919248	CV2794816	single nucleotide variant	NM_016327.3(UPB1):c.670C>T (p.Gln224Ter)	Deficiency of beta-ureidopropionase [RCV003388491]	pathogenic	22	24515249	24515249	Human	1	name
405192263	CV2872130	single nucleotide variant	NM_016327.3(UPB1):c.707G>A (p.Arg236Gln)	Deficiency of beta-ureidopropionase [RCV004558141]\|not provided [RCV003550512]	uncertain significance	22	24515286	24515286	Human	1	name
402471400	CV3171476	single nucleotide variant	NM_016327.3(UPB1):c.874G>T (p.Glu292Ter)	not provided [RCV003874260]	pathogenic	22	24521986	24521986	Human		name
405810222	CV3345175	single nucleotide variant	NM_016327.3(UPB1):c.325A>G (p.Met109Val)	Inborn genetic diseases [RCV004482135]	uncertain significance	22	24502174	24502174	Human	1	name
405810228	CV3345178	single nucleotide variant	NM_016327.3(UPB1):c.757A>G (p.Ile253Val)	Inborn genetic diseases [RCV004482138]	uncertain significance	22	24515336	24515336	Human	1	name
11612966	CV337637	single nucleotide variant	NM_016327.3(UPB1):c.514G>A (p.Glu172Lys)	Deficiency of beta-ureidopropionase [RCV000264336]\|not provided [RCV002057795]	likely benign\|uncertain significance	22	24513378	24513378	Human	1	name
11619470	CV337639	single nucleotide variant	NM_016327.3(UPB1):c.899C>T (p.Ser300Leu)	Deficiency of beta-ureidopropionase [RCV000325723]\|not provided [RCV001861196]	uncertain significance	22	24522011	24522011	Human	1	name
11630674	CV347210	single nucleotide variant	NM_016327.3(UPB1):c.464C>T (p.Ala155Val)	Deficiency of beta-ureidopropionase [RCV000356477]	conflicting interpretations of pathogenicity\|uncertain significance	22	24513328	24513328	Human	1	name
11626643	CV351215	single nucleotide variant	NM_016327.3(UPB1):c.889G>A (p.Glu297Lys)	Deficiency of beta-ureidopropionase [RCV000267807]\|Inborn genetic diseases [RCV005286068]	uncertain significance	22	24522001	24522001	Human	2	name
408387154	CV3518722	single nucleotide variant	NM_016327.3(UPB1):c.307A>C (p.Ile103Leu)	not provided [RCV004761041]	uncertain significance	22	24502156	24502156	Human		name
597642094	CV3629142	single nucleotide variant	NM_016327.3(UPB1):c.466A>G (p.Lys156Glu)	Inborn genetic diseases [RCV004971867]	uncertain significance	22	24513330	24513330	Human	1	name
597642102	CV3629145	single nucleotide variant	NM_016327.3(UPB1):c.487G>C (p.Val163Leu)	Inborn genetic diseases [RCV004971869]	uncertain significance	22	24513351	24513351	Human	1	name
597642106	CV3629146	single nucleotide variant	NM_016327.3(UPB1):c.932G>A (p.Gly311Asp)	Inborn genetic diseases [RCV004971870]	uncertain significance	22	24523634	24523634	Human	1	name
598191461	CV3925735	single nucleotide variant	NM_016327.3(UPB1):c.668C>T (p.Thr223Met)	Inborn genetic diseases [RCV005288362]	uncertain significance	22	24515247	24515247	Human	1	name
598191466	CV3925737	single nucleotide variant	NM_016327.3(UPB1):c.884C>G (p.Pro295Arg)	Inborn genetic diseases [RCV005288363]	uncertain significance	22	24521996	24521996	Human	1	name
12913578	CV422377	single nucleotide variant	NM_016327.3(UPB1):c.985G>T (p.Gly329Trp)	Inborn genetic diseases [RCV004965502]\|not provided [RCV002527113]\|not specified [RCV000493993]	uncertain significance	22	24523687	24523687	Human	1	name
13472478	CV446381	single nucleotide variant	NM_016327.3(UPB1):c.814G>A (p.Ala272Thr)	not provided [RCV000519139]	uncertain significance	22	24520409	24520409	Human		name
13831507	CV582005	single nucleotide variant	NM_016327.3(UPB1):c.509A>G (p.Asp170Gly)	not provided [RCV000722187]	uncertain significance	22	24513373	24513373	Human		name
13831630	CV582127	single nucleotide variant	NM_016327.3(UPB1):c.386C>G (p.Thr129Arg)	not provided [RCV000722309]	uncertain significance	22	24510770	24510770	Human		name
14693229	CV620684	single nucleotide variant	NM_016327.3(UPB1):c.792C>A (p.Ser264Arg)	Deficiency of beta-ureidopropionase [RCV000778649]\|not provided [RCV001305775]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	24520387	24520387	Human	3	name
14693229	CV620684	single nucleotide variant	NM_016327.3(UPB1):c.792C>A (p.Ser264Arg)	Deficiency of beta-ureidopropionase [RCV000778649]\|not provided [RCV001305775]	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	24520387	24520388	Human	3	name
28883594	CV890945	single nucleotide variant	NM_016327.3(UPB1):c.310G>A (p.Val104Ile)	Deficiency of beta-ureidopropionase [RCV001150306]\|Inborn genetic diseases [RCV002557236]	likely benign\|uncertain significance	22	24502159	24502159	Human	2	name
28903722	CV890947	single nucleotide variant	NM_016327.3(UPB1):c.676G>A (p.Gly226Arg)	Deficiency of beta-ureidopropionase [RCV001144170]\|not provided [RCV002557073]	uncertain significance	22	24515255	24515255	Human	1	name
38465592	CV961792	single nucleotide variant	NM_016327.3(UPB1):c.358G>T (p.Ala120Ser)	Deficiency of beta-ureidopropionase [RCV001250092]\|not provided [RCV002570413]	likely benign\|uncertain significance	22	24502207	24502207	Human	1	name
151820879	CV1390969	single nucleotide variant	NM_016327.3(UPB1):c.1144G>A (p.Val382Met)	not provided [RCV001992757]	uncertain significance	22	24525783	24525783	Human		name
153348337	CV1695370	single nucleotide variant	NM_016327.3(UPB1):c.1034A>T (p.Asn345Ile)	Deficiency of beta-ureidopropionase [RCV002279890]\|UPB1-related disorder [RCV004750721]\|not provided [RCV003443021]	pathogenic\|likely pathogenic\|uncertain significance	22	24523736	24523736	Human	1	name , trait , alternate_id
156025860	CV1896238	single nucleotide variant	NM_016327.3(UPB1):c.1000C>T (p.Arg334Trp)	Inborn genetic diseases [RCV003082694]\|not provided [RCV003100421]	uncertain significance	22	24523702	24523702	Human	1	name
155915880	CV2200568	single nucleotide variant	NM_016327.3(UPB1):c.1108G>A (p.Ala370Thr)	Inborn genetic diseases [RCV002682127]	uncertain significance	22	24525747	24525747	Human	1	name
156396498	CV2322414	single nucleotide variant	NM_016327.3(UPB1):c.1097C>T (p.Ala366Val)	Inborn genetic diseases [RCV002944967]	uncertain significance	22	24525736	24525736	Human	1	name
11639779	CV269585	single nucleotide variant	NM_016327.3(UPB1):c.1076C>T (p.Thr359Met)	not provided [RCV000326748]	uncertain significance	22	24525715	24525715	Human		name
401917260	CV2829757	single nucleotide variant	NM_016327.3(UPB1):c.1042C>T (p.Gln348Ter)	not provided [RCV003443801]	uncertain significance	22	24523744	24523744	Human		name
407454832	CV3489410	single nucleotide variant	NM_016327.3(UPB1):c.1111G>A (p.Glu371Lys)	Inborn genetic diseases [RCV004685254]	uncertain significance	22	24525750	24525750	Human	1	name
598274740	CV3925736	single nucleotide variant	NM_016327.3(UPB1):c.1016T>C (p.Val339Ala)	Inborn genetic diseases [RCV005304093]	uncertain significance	22	24523718	24523718	Human	1	name
13704835	CV539103	single nucleotide variant	NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly)	Deficiency of beta-ureidopropionase [RCV000662083]	uncertain significance	22	24525738	24525738	Human	1	name
28878984	CV890952	single nucleotide variant	NM_016327.3(UPB1):c.1027G>A (p.Asp343Asn)	Deficiency of beta-ureidopropionase [RCV001148856]	uncertain significance	22	24523729	24523729	Human	1	name
28878992	CV890953	single nucleotide variant	NM_016327.3(UPB1):c.1092G>A (p.Met364Ile)	Deficiency of beta-ureidopropionase [RCV001148859]	uncertain significance	22	24525731	24525731	Human	1	name
39456472	CV965568	microsatellite	NM_016327.3(UPB1):c.148_149dup (p.Asp51fs)	Deficiency of beta-ureidopropionase [RCV004799346]\|not provided [RCV001255097]	likely pathogenic	22	24500146	24500147	Human		name
597916572	CV3810997	deletion	NM_016327.3(UPB1):c.952_964del (p.Tyr318fs)	not provided [RCV005155032]	pathogenic	22	24523653	24523665	Human		name
156222964	CV1965595	deletion	NM_016327.3(UPB1):c.478_480del (p.Met160del)	not provided [RCV002596528]	uncertain significance	22	24513342	24513344	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