Aprt Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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198 records found for search term Aprt

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
11666192	CV344521	single nucleotide variant	NM_000485.3(APRT):c.*3A>G	Adenine phosphoribosyltransferase deficiency [RCV000388967]\|Morquio syndrome [RCV000323279]\|not provided [RCV001653568]	benign\|likely benign	16	88809695	88809695	Human	2	name , alternate_id
11614766	CV336613	single nucleotide variant	NM_000485.3(APRT):c.*83G>A	Adenine phosphoribosyltransferase deficiency [RCV000279323]	uncertain significance	16	88809615	88809615	Human	1	name , alternate_id
11665239	CV342867	single nucleotide variant	NM_000485.3(APRT):c.*47T>C	Adenine phosphoribosyltransferase deficiency [RCV000350708]\|Morquio syndrome [RCV000261137]\|not provided [RCV001575837]	likely benign	16	88809651	88809651	Human	2	name , alternate_id
597713943	CV3715821	single nucleotide variant	NM_000485.3(APRT):c.-11C>A	Adenine phosphoribosyltransferase deficiency [RCV005010034]	uncertain significance	16	88811910	88811910	Human	1	name , alternate_id
150509120	CV1229811	single nucleotide variant	NM_000485.3(APRT):c.*269C>A	not provided [RCV001636390]	benign	16	88809429	88809429	Human		name
11665894	CV326781	single nucleotide variant	NM_000485.3(APRT):c.*182A>G	Adenine phosphoribosyltransferase deficiency [RCV000320818]\|Morquio syndrome [RCV000300959]	likely benign\|uncertain significance	16	88809516	88809516	Human	2	name , alternate_id
11666530	CV326785	single nucleotide variant	NM_000485.3(APRT):c.*178A>G	Adenine phosphoribosyltransferase deficiency [RCV000377670]\|Morquio syndrome [RCV000353515]\|not provided [RCV001642999]	benign	16	88809520	88809520	Human	2	name , alternate_id
11626332	CV344511	single nucleotide variant	NM_000485.3(APRT):c.*178A>C	Adenine phosphoribosyltransferase deficiency [RCV000262095]	likely benign\|uncertain significance	16	88809520	88809520	Human	1	name , alternate_id
11629239	CV344518	single nucleotide variant	NM_000485.3(APRT):c.*152C>T	Adenine phosphoribosyltransferase deficiency [RCV000319131]	uncertain significance	16	88809546	88809546	Human	1	name , alternate_id
11631210	CV344520	single nucleotide variant	NM_000485.3(APRT):c.*122C>T	Adenine phosphoribosyltransferase deficiency [RCV000371435]	uncertain significance	16	88809576	88809576	Human	1	name , alternate_id
28884955	CV876140	single nucleotide variant	NM_000485.3(APRT):c.*210A>G	Adenine phosphoribosyltransferase deficiency [RCV001118891]	uncertain significance	16	88809488	88809488	Human	1	name , alternate_id
40903674	CV975998	single nucleotide variant	NM_000485.3(APRT):c.81-2A>G	Adenine phosphoribosyltransferase deficiency [RCV001269426]	pathogenic\|likely pathogenic	16	88811658	88811658	Human	1	name , alternate_id
40903673	CV975999	single nucleotide variant	NM_000485.3(APRT):c.81-3C>G	Adenine phosphoribosyltransferase deficiency [RCV001269425]	pathogenic\|likely pathogenic	16	88811659	88811659	Human	1	name , alternate_id
127329709	CV1125746	single nucleotide variant	NM_000485.3(APRT):c.321+7G>A	not provided [RCV001470383]	likely benign	16	88810416	88810416	Human		name
150511884	CV1228369	single nucleotide variant	NM_000485.3(APRT):c.80+52G>T	not provided [RCV001637501]	benign	16	88811768	88811768	Human		name
10407927	CV199814	duplication	NM_000485.3(APRT):c.400+2dup	Adenine phosphoribosyltransferase deficiency [RCV000192216]\|not provided [RCV001208272]	pathogenic\|conflicting interpretations of pathogenicity	16	88810067	88810068	Human	1	name , alternate_id
156309621	CV2031450	single nucleotide variant	NM_000485.3(APRT):c.400+6G>A	not provided [RCV002716456]	uncertain significance	16	88810064	88810064	Human		name
8654807	CV33334	duplication	NM_000485.3(APRT):c.321+2dup	Adenine phosphoribosyltransferase deficiency [RCV000033907]	pathogenic	16	88810420	88810421	Human	1	name , alternate_id
597713867	CV3715810	single nucleotide variant	NM_000485.3(APRT):c.187+2C>A	Adenine phosphoribosyltransferase deficiency [RCV005010027]	likely pathogenic	16	88811548	88811548	Human	1	name , alternate_id
40903704	CV975969	single nucleotide variant	NM_000485.3(APRT):c.400+3A>T	Adenine phosphoribosyltransferase deficiency [RCV001269454]	pathogenic	16	88810067	88810067	Human	1	name , alternate_id
40903703	CV975970	single nucleotide variant	NM_000485.3(APRT):c.400+1G>T	Adenine phosphoribosyltransferase deficiency [RCV001269453]	pathogenic	16	88810069	88810069	Human	1	name , alternate_id
40903682	CV975990	single nucleotide variant	NM_000485.3(APRT):c.188-3C>G	Adenine phosphoribosyltransferase deficiency [RCV001269434]	pathogenic	16	88810559	88810559	Human	1	name , alternate_id
150330931	CV1172920	single nucleotide variant	NM_000485.3(APRT):c.188-40T>C	not provided [RCV001538373]	benign	16	88810596	88810596	Human		name
150484381	CV1222479	single nucleotide variant	NM_000485.3(APRT):c.187+29G>C	not provided [RCV001617482]	benign	16	88811521	88811521	Human		name
150482216	CV1247418	single nucleotide variant	NM_000485.3(APRT):c.322-64C>G	not provided [RCV001673243]	benign	16	88810212	88810212	Human		name
152048590	CV1585409	single nucleotide variant	NM_000485.3(APRT):c.400+14C>T	Adenine phosphoribosyltransferase deficiency [RCV002494320]\|not provided [RCV002145382]	likely benign	16	88810056	88810056	Human	1	name , alternate_id
405239419	CV2996970	single nucleotide variant	NM_000485.3(APRT):c.400+18G>A	not provided [RCV003718786]	likely benign	16	88810052	88810052	Human		name
405007383	CV3117598	single nucleotide variant	NM_000485.3(APRT):c.187+18G>C	not provided [RCV003828653]	likely benign	16	88811532	88811532	Human		name
405103966	CV3120051	single nucleotide variant	NM_000485.3(APRT):c.322-15C>G	not provided [RCV003812121]	likely benign	16	88810163	88810163	Human		name
404982668	CV3179603	single nucleotide variant	NM_000485.3(APRT):c.400+15G>A	not provided [RCV003880584]	likely benign	16	88810055	88810055	Human		name
404984262	CV3180031	single nucleotide variant	NM_000485.3(APRT):c.321+17G>A	not provided [RCV003880833]	likely benign	16	88810406	88810406	Human		name
597758736	CV3715809	duplication	NM_000485.3(APRT):c.188-10dup	Adenine phosphoribosyltransferase deficiency [RCV005017870]	uncertain significance	16	88810565	88810566	Human	1	name , alternate_id
597973104	CV3790940	single nucleotide variant	NM_000485.3(APRT):c.401-16A>G	not provided [RCV005143155]	likely benign	16	88809856	88809856	Human		name
28875461	CV876734	single nucleotide variant	NM_000485.3(APRT):c.401-15C>T	Adenine phosphoribosyltransferase deficiency [RCV001115916]	uncertain significance	16	88809855	88809855	Human	1	name , alternate_id
150410500	CV1178072	single nucleotide variant	NM_000485.3(APRT):c.188-264G>A	not provided [RCV001546674]	likely benign	16	88810820	88810820	Human		name
150431451	CV1206354	duplication	NM_000485.3(APRT):c.322-103dup	not provided [RCV001581003]	likely benign	16	88810250	88810251	Human		name
150510342	CV1211584	single nucleotide variant	NM_000485.3(APRT):c.188-160C>T	not provided [RCV001597376]	benign	16	88810716	88810716	Human		name
150493552	CV1225687	microsatellite	NM_000485.3(APRT):c.*327CAG[1]	not provided [RCV001619203]	benign	16	88809366	88809368	Human		name
150486246	CV1283562	single nucleotide variant	NM_000485.3(APRT):c.322-110G>C	not provided [RCV001715757]	benign	16	88810258	88810258	Human		name
126730555	CV1021551	deletion	NM_000485.3(APRT):c.392_400+1del	Adenine phosphoribosyltransferase deficiency [RCV001333471]	pathogenic	16	88810069	88810078	Human		name
40903681	CV975991	deletion	NM_000485.3(APRT):c.184_187+22del	Adenine phosphoribosyltransferase deficiency [RCV001269433]	pathogenic	16	88811528	88811553	Human	1	name , alternate_id
40903683	CV975979	deletion	NM_000485.3(APRT):c.188-145_296del	Adenine phosphoribosyltransferase deficiency [RCV001269435]	pathogenic	16	88810448	88810701	Human	1	name , alternate_id
150548203	CV1314205	single nucleotide variant	NM_000485.3(APRT):c.3G>C (p.Met1Ile)	Adenine phosphoribosyltransferase deficiency [RCV001785958]	likely pathogenic	16	88811897	88811897	Human		name
11665314	CV336625	single nucleotide variant	NM_000485.3(APRT):c.90G>T (p.Ser30=)	Adenine phosphoribosyltransferase deficiency [RCV000345604]\|Morquio syndrome [RCV000264930]\|not provided [RCV000889785]	benign\|likely benign	16	88811647	88811647	Human	2	name , alternate_id
11665983	CV342872	single nucleotide variant	NM_000485.3(APRT):c.97C>T (p.Leu33=)	Adenine phosphoribosyltransferase deficiency [RCV000307036]\|Morquio syndrome [RCV000380514]\|not provided [RCV001518023]	benign\|likely benign	16	88811640	88811640	Human	2	name , alternate_id
40903671	CV976001	duplication	NM_000485.3(APRT):c.23dup (p.Val9fs)	Adenine phosphoribosyltransferase deficiency [RCV001269423]	pathogenic	16	88811876	88811877	Human	1	name , alternate_id
40903670	CV976002	single nucleotide variant	NM_000485.3(APRT):c.3G>A (p.Met1Ile)	Adenine phosphoribosyltransferase deficiency [RCV001269422]	pathogenic	16	88811897	88811897	Human	1	name , alternate_id
40903669	CV976003	single nucleotide variant	NM_000485.3(APRT):c.2T>C (p.Met1Thr)	Adenine phosphoribosyltransferase deficiency [RCV001269421]	pathogenic	16	88811898	88811898	Human	1	name , alternate_id
40903668	CV976004	single nucleotide variant	NM_000485.3(APRT):c.1A>G (p.Met1Val)	Adenine phosphoribosyltransferase deficiency [RCV001269420]\|not provided [RCV001384758]	pathogenic	16	88811899	88811899	Human	1	name , alternate_id
127282112	CV1082545	single nucleotide variant	NM_000485.3(APRT):c.288T>C (p.Thr96=)	APRT-related disorder [RCV004758166]\|not provided [RCV001410915]	likely benign	16	88810456	88810456	Human	1	name , trait , alternate_id
150548202	CV1314204	single nucleotide variant	NM_000485.3(APRT):c.13G>T (p.Glu5Ter)	Adenine phosphoribosyltransferase deficiency [RCV001785957]	likely pathogenic	16	88811887	88811887	Human	1	name , alternate_id
152106705	CV1560132	single nucleotide variant	NM_000485.3(APRT):c.135C>G (p.Leu45=)	not provided [RCV002133944]	likely benign	16	88811602	88811602	Human		name
156417690	CV1909968	single nucleotide variant	NM_000485.3(APRT):c.135C>T (p.Leu45=)	not provided [RCV002610852]	likely benign	16	88811602	88811602	Human		name
156415721	CV1987454	indel	NM_000485.3(APRT):c.322-1_322delinsAT	not provided [RCV002609802]	likely pathogenic	16	88810148	88810149	Human		name
156272325	CV2046175	single nucleotide variant	NM_000485.3(APRT):c.15G>C (p.Glu5Asp)	not provided [RCV002770086]	uncertain significance	16	88811885	88811885	Human		name
156061990	CV2161991	single nucleotide variant	NM_000485.3(APRT):c.270G>A (p.Gly90=)	not provided [RCV003019766]	likely benign	16	88810474	88810474	Human		name
156080019	CV2258130	single nucleotide variant	NM_000485.3(APRT):c.20A>T (p.Gln7Leu)	Inborn genetic diseases [RCV002797900]	uncertain significance	16	88811880	88811880	Human	1	name
11625699	CV336623	single nucleotide variant	NM_000485.3(APRT):c.162C>T (p.His54=)	Adenine phosphoribosyltransferase deficiency [RCV000402305]\|not provided [RCV000964550]	benign\|likely benign\|uncertain significance	16	88811575	88811575	Human	1	name , alternate_id
11621546	CV342871	single nucleotide variant	NM_000485.3(APRT):c.216C>A (p.Gly72=)	Adenine phosphoribosyltransferase deficiency [RCV000349759]\|not provided [RCV002056542]	likely benign\|uncertain significance	16	88810528	88810528	Human	1	name , alternate_id
407525256	CV3461081	single nucleotide variant	NM_000485.3(APRT):c.20A>G (p.Gln7Arg)	Inborn genetic diseases [RCV004653978]	uncertain significance	16	88811880	88811880	Human	1	name
597713931	CV3715820	single nucleotide variant	NM_000485.3(APRT):c.10T>C (p.Ser4Pro)	Adenine phosphoribosyltransferase deficiency [RCV005010033]	uncertain significance	16	88811890	88811890	Human	1	name , alternate_id
8604560	CV49433	single nucleotide variant	NM_000485.3(APRT):c.297C>T (p.Ala99=)	Deficiency of AMP pyrophorylase [RCV000033906]\|Adenine phosphoribosyltransferase deficiency [RCV000033906]	benign	16	88810447	88810447	Human		name
28875468	CV876145	single nucleotide variant	NM_000485.3(APRT):c.276G>A (p.Leu92=)	Adenine phosphoribosyltransferase deficiency [RCV001115919]\|not provided [RCV002069865]	likely benign\|uncertain significance	16	88810468	88810468	Human	1	name , alternate_id
127289437	CV1146629	single nucleotide variant	NM_000485.3(APRT):c.385C>T (p.Leu129=)	Adenine phosphoribosyltransferase deficiency [RCV002501701]\|not provided [RCV001495630]	likely benign	16	88810085	88810085	Human	1	name , alternate_id
150407281	CV1191866	deletion	NM_000485.3(APRT):c.322-126_322-123del	not provided [RCV001564971]	likely benign	16	88810271	88810274	Human		name
151758292	CV1438877	deletion	NM_000485.3(APRT):c.270del (p.Lys91fs)	not provided [RCV002007562]	pathogenic	16	88810474	88810474	Human		name
155709565	CV1775747	single nucleotide variant	NM_000485.3(APRT):c.53A>C (p.Asp18Ala)	not provided [RCV002296135]	uncertain significance	16	88811847	88811847	Human		name
156228079	CV1955877	single nucleotide variant	NM_000485.3(APRT):c.375C>T (p.Val125=)	not provided [RCV002575773]	likely benign	16	88810095	88810095	Human		name
156406712	CV1963735	single nucleotide variant	NM_000485.3(APRT):c.92C>T (p.Pro31Leu)	not provided [RCV002585992]	uncertain significance	16	88811645	88811645	Human		name
156399174	CV2204960	single nucleotide variant	NM_000485.3(APRT):c.55T>C (p.Phe19Leu)	Inborn genetic diseases [RCV002655907]	uncertain significance	16	88811845	88811845	Human	1	name
405199778	CV2876836	single nucleotide variant	NM_000485.3(APRT):c.354G>A (p.Glu118=)	not provided [RCV003551175]	likely benign	16	88810116	88810116	Human		name
402504371	CV3181460	single nucleotide variant	NM_000485.3(APRT):c.321G>A (p.Lys107=)	Adenine phosphoribosyltransferase deficiency [RCV005015065]\|not provided [RCV003878294]	uncertain significance	16	88810423	88810423	Human	1	name , alternate_id
404980970	CV3183309	deletion	NM_000485.3(APRT):c.108del (p.Ala37fs)	not provided [RCV003880332]	pathogenic	16	88811629	88811629	Human		name
597713878	CV3715813	single nucleotide variant	NM_000485.3(APRT):c.94G>A (p.Val32Ile)	Adenine phosphoribosyltransferase deficiency [RCV005010028]	uncertain significance	16	88811643	88811643	Human	1	name , alternate_id
597713889	CV3715814	single nucleotide variant	NM_000485.3(APRT):c.91C>G (p.Pro31Ala)	Adenine phosphoribosyltransferase deficiency [RCV005010029]	uncertain significance	16	88811646	88811646	Human	1	name , alternate_id
597713899	CV3715815	single nucleotide variant	NM_000485.3(APRT):c.85A>T (p.Ile29Phe)	Adenine phosphoribosyltransferase deficiency [RCV005010030]	uncertain significance	16	88811652	88811652	Human	1	name , alternate_id
597713911	CV3715816	single nucleotide variant	NM_000485.3(APRT):c.64C>T (p.Pro22Ser)	Adenine phosphoribosyltransferase deficiency [RCV005010031]	uncertain significance	16	88811836	88811836	Human	1	name , alternate_id
597713920	CV3715817	single nucleotide variant	NM_000485.3(APRT):c.49C>G (p.Pro17Ala)	Adenine phosphoribosyltransferase deficiency [RCV005010032]	uncertain significance	16	88811851	88811851	Human	1	name , alternate_id
597758756	CV3715819	single nucleotide variant	NM_000485.3(APRT):c.32A>G (p.Gln11Arg)	Adenine phosphoribosyltransferase deficiency [RCV005017874]	uncertain significance	16	88811868	88811868	Human	1	name , alternate_id
597859733	CV3832907	duplication	NM_000485.3(APRT):c.270dup (p.Lys91fs)	not provided [RCV005174820]	pathogenic	16	88810473	88810474	Human		name
598196067	CV4006126	single nucleotide variant	NM_000485.3(APRT):c.39C>G (p.Ile13Met)	Inborn genetic diseases [RCV005397642]	uncertain significance	16	88811861	88811861	Human	1	name
15135808	CV755529	single nucleotide variant	NM_000485.3(APRT):c.529C>T (p.Leu177=)	not provided [RCV000920909]	likely benign	16	88809712	88809712	Human		name
15131437	CV785426	single nucleotide variant	NM_000485.3(APRT):c.459C>T (p.Cys153=)	Adenine phosphoribosyltransferase deficiency [RCV002489445]\|not provided [RCV000981213]	likely benign	16	88809782	88809782	Human	1	name , alternate_id
28875458	CV876142	single nucleotide variant	NM_000485.3(APRT):c.411C>T (p.Asn137=)	Adenine phosphoribosyltransferase deficiency [RCV001115915]\|not provided [RCV002069864]	likely benign\|uncertain significance	16	88809830	88809830	Human	1	name , alternate_id
28875462	CV876143	single nucleotide variant	NM_000485.3(APRT):c.364A>C (p.Arg122=)	Adenine phosphoribosyltransferase deficiency [RCV001115917]\|not provided [RCV002556285]	likely benign\|uncertain significance	16	88810106	88810106	Human	1	name , alternate_id
40903677	CV975995	single nucleotide variant	NM_000485.3(APRT):c.98T>C (p.Leu33Pro)	Adenine phosphoribosyltransferase deficiency [RCV001269429]	pathogenic	16	88811639	88811639	Human	1	name , alternate_id
40903676	CV975996	single nucleotide variant	NM_000485.3(APRT):c.84C>A (p.Asp28Glu)	Adenine phosphoribosyltransferase deficiency [RCV001269428]	likely pathogenic	16	88811653	88811653	Human	1	name , alternate_id
40903675	CV975997	single nucleotide variant	NM_000485.3(APRT):c.82G>C (p.Asp28His)	Adenine phosphoribosyltransferase deficiency [RCV001269427]	pathogenic	16	88811655	88811655	Human	1	name , alternate_id
40903672	CV976000	single nucleotide variant	NM_000485.3(APRT):c.58C>T (p.Pro20Ser)	Adenine phosphoribosyltransferase deficiency [RCV001269424]	likely pathogenic	16	88811842	88811842	Human	1	name , alternate_id
126915904	CV1049959	single nucleotide variant	NM_000485.3(APRT):c.127A>C (p.Ile43Leu)	not provided [RCV001371191]	uncertain significance	16	88811610	88811610	Human		name
151866832	CV1381597	single nucleotide variant	NM_000485.3(APRT):c.292T>C (p.Trp98Arg)	not provided [RCV001905985]	uncertain significance	16	88810452	88810452	Human		name
151764479	CV1403155	single nucleotide variant	NM_000485.3(APRT):c.175G>A (p.Asp59Asn)	Adenine phosphoribosyltransferase deficiency [RCV002491915]\|Inborn genetic diseases [RCV004656736]\|not provided [RCV001914360]	uncertain significance	16	88811562	88811562	Human	2	name , alternate_id
156362674	CV2119600	single nucleotide variant	NM_000485.3(APRT):c.185C>T (p.Ala62Val)	APRT-related disorder [RCV003926612]\|not provided [RCV002967081]	benign\|likely benign	16	88811552	88811552	Human	1	name , trait , alternate_id
156286996	CV2327284	single nucleotide variant	NM_000485.3(APRT):c.293G>T (p.Trp98Leu)	Inborn genetic diseases [RCV002935320]	uncertain significance	16	88810451	88810451	Human	1	name
401757478	CV2707802	single nucleotide variant	NM_000485.3(APRT):c.181A>G (p.Ile61Val)	Adenine phosphoribosyltransferase deficiency [RCV005012847]\|Inborn genetic diseases [RCV003256058]	uncertain significance	16	88811556	88811556	Human	2	name , alternate_id
405673315	CV3289983	single nucleotide variant	NM_000485.3(APRT):c.232G>A (p.Glu78Lys)	Inborn genetic diseases [RCV004419998]	uncertain significance	16	88810512	88810512	Human	1	name
8603182	CV33336	single nucleotide variant	NM_000485.3(APRT):c.194A>T (p.Asp65Val)	Adenine phosphoribosyltransferase deficiency [RCV000033903]	pathogenic	16	88810550	88810550	Human	1	name , alternate_id
8603183	CV33337	single nucleotide variant	NM_000485.3(APRT):c.294G>A (p.Trp98Ter)	Adenine phosphoribosyltransferase deficiency [RCV000033905]	pathogenic	16	88810450	88810450	Human	1	name , alternate_id
597758722	CV3715804	single nucleotide variant	NM_000485.3(APRT):c.293G>A (p.Trp98Ter)	Adenine phosphoribosyltransferase deficiency [RCV005017867]	likely pathogenic	16	88810451	88810451	Human	1	name , alternate_id
597758732	CV3715805	single nucleotide variant	NM_000485.3(APRT):c.265C>T (p.Arg89Trp)	Adenine phosphoribosyltransferase deficiency [RCV005017869]	uncertain significance	16	88810479	88810479	Human	1	name , alternate_id
597713830	CV3715806	single nucleotide variant	NM_000485.3(APRT):c.241C>G (p.Leu81Val)	Adenine phosphoribosyltransferase deficiency [RCV005010024]	uncertain significance	16	88810503	88810503	Human	1	name , alternate_id
597713841	CV3715807	single nucleotide variant	NM_000485.3(APRT):c.235C>A (p.Leu79Ile)	Adenine phosphoribosyltransferase deficiency [RCV005010025]	uncertain significance	16	88810509	88810509	Human	1	name , alternate_id
597713854	CV3715808	single nucleotide variant	NM_000485.3(APRT):c.193G>T (p.Asp65Tyr)	Adenine phosphoribosyltransferase deficiency [RCV005010026]	uncertain significance	16	88810551	88810551	Human	1	name , alternate_id
597758746	CV3715812	single nucleotide variant	NM_000485.3(APRT):c.110C>T (p.Ala37Val)	Adenine phosphoribosyltransferase deficiency [RCV005017872]	uncertain significance	16	88811627	88811627	Human	1	name , alternate_id
597758751	CV3715818	deletion	NM_000485.3(APRT):c.14_41del (p.Glu5fs)	Adenine phosphoribosyltransferase deficiency [RCV005017873]	likely pathogenic	16	88811859	88811886	Human	1	name , alternate_id
597951385	CV3798320	single nucleotide variant	NM_000485.3(APRT):c.203G>A (p.Gly68Asp)	not provided [RCV005136100]	uncertain significance	16	88810541	88810541	Human		name
28875471	CV876146	single nucleotide variant	NM_000485.3(APRT):c.266G>A (p.Arg89Gln)	APRT-related disorder [RCV003918700]\|Adenine phosphoribosyltransferase deficiency [RCV001115920]\|not provided [RCV001489654]	benign\|likely benign	16	88810478	88810478	Human	1	name , trait , alternate_id
40903715	CV975962	deletion	NM_000485.3(APRT):c.510del (p.Val171fs)	Adenine phosphoribosyltransferase deficiency [RCV001269462]	pathogenic	16	88809731	88809731	Human	1	name , alternate_id
40903690	CV975983	single nucleotide variant	NM_000485.3(APRT):c.264G>T (p.Lys88Asn)	Adenine phosphoribosyltransferase deficiency [RCV001269442]	pathogenic	16	88810480	88810480	Human	1	name , alternate_id
40903689	CV975984	single nucleotide variant	NM_000485.3(APRT):c.259C>T (p.Arg87Ter)	Adenine phosphoribosyltransferase deficiency [RCV001269441]	pathogenic	16	88810485	88810485	Human	1	name , alternate_id
40903688	CV975985	single nucleotide variant	NM_000485.3(APRT):c.250G>A (p.Val84Met)	Adenine phosphoribosyltransferase deficiency [RCV001269440]	pathogenic\|uncertain significance	16	88810494	88810494	Human	1	name , alternate_id
40903687	CV975986	single nucleotide variant	NM_000485.3(APRT):c.227C>T (p.Ala76Val)	Adenine phosphoribosyltransferase deficiency [RCV001269439]	pathogenic	16	88810517	88810517	Human	1	name , alternate_id
40903686	CV975987	single nucleotide variant	NM_000485.3(APRT):c.200G>A (p.Arg67Gln)	Adenine phosphoribosyltransferase deficiency [RCV001269438]	pathogenic\|likely pathogenic	16	88810544	88810544	Human	1	name , alternate_id
40903685	CV975988	single nucleotide variant	NM_000485.3(APRT):c.199C>T (p.Arg67Ter)	Adenine phosphoribosyltransferase deficiency [RCV001269437]	pathogenic	16	88810545	88810545	Human	1	name , alternate_id
40903684	CV975989	single nucleotide variant	NM_000485.3(APRT):c.188G>A (p.Gly63Asp)	Adenine phosphoribosyltransferase deficiency [RCV001269436]	pathogenic\|likely pathogenic	16	88810556	88810556	Human	1	name , alternate_id
40903679	CV975993	single nucleotide variant	NM_000485.3(APRT):c.160C>G (p.His54Asp)	Adenine phosphoribosyltransferase deficiency [RCV001269431]	pathogenic\|likely pathogenic	16	88811577	88811577	Human	1	name , alternate_id
40903678	CV975994	single nucleotide variant	NM_000485.3(APRT):c.119G>C (p.Arg40Pro)	Adenine phosphoribosyltransferase deficiency [RCV001269430]	pathogenic	16	88811618	88811618	Human	1	name , alternate_id
126750146	CV1012478	single nucleotide variant	NM_000485.3(APRT):c.367G>C (p.Val123Leu)	not provided [RCV001326674]	uncertain significance	16	88810103	88810103	Human		name
127244848	CV1063778	single nucleotide variant	NM_000485.3(APRT):c.310G>T (p.Glu104Ter)	not provided [RCV001384257]	pathogenic	16	88810434	88810434	Human		name
151876362	CV1458634	single nucleotide variant	NM_000485.3(APRT):c.376G>T (p.Val126Leu)	not provided [RCV001998985]	uncertain significance	16	88810094	88810094	Human		name
151813009	CV1498277	single nucleotide variant	NM_000485.3(APRT):c.460G>A (p.Val154Met)	Adenine phosphoribosyltransferase deficiency [RCV002484814]\|not provided [RCV001954013]	uncertain significance	16	88809781	88809781	Human	1	name , alternate_id
151716327	CV1513045	single nucleotide variant	NM_000485.3(APRT):c.376G>A (p.Val126Met)	Adenine phosphoribosyltransferase deficiency [RCV002478230]\|not provided [RCV001890388]	uncertain significance	16	88810094	88810094	Human	1	name , alternate_id
155932767	CV1919722	single nucleotide variant	NM_000485.3(APRT):c.373G>A (p.Val125Ile)	not provided [RCV002615096]	uncertain significance	16	88810097	88810097	Human		name
156046732	CV2059874	inversion	NM_000485.3(APRT):c.16_17inv (p.Leu6Arg)	not provided [RCV002796630]	uncertain significance	16	88811883	88811884	Human		name
155997625	CV2074418	single nucleotide variant	NM_000485.3(APRT):c.442G>A (p.Ala148Thr)	not provided [RCV002843258]	uncertain significance	16	88809799	88809799	Human		name
156050976	CV2165214	single nucleotide variant	NM_000485.3(APRT):c.473A>G (p.Glu158Gly)	not provided [RCV003019394]	uncertain significance	16	88809768	88809768	Human		name
401771592	CV2711778	single nucleotide variant	NM_000485.3(APRT):c.347C>T (p.Ala116Val)	Inborn genetic diseases [RCV003261529]	uncertain significance	16	88810123	88810123	Human	1	name
402496026	CV2942745	single nucleotide variant	NM_000485.3(APRT):c.406A>G (p.Met136Val)	not provided [RCV003661114]	uncertain significance	16	88809835	88809835	Human		name
405673319	CV3289984	single nucleotide variant	NM_000485.3(APRT):c.514C>G (p.Pro172Ala)	Inborn genetic diseases [RCV004419999]	uncertain significance	16	88809727	88809727	Human	1	name
8600942	CV33335	single nucleotide variant	NM_000485.3(APRT):c.407T>C (p.Met136Thr)	APRT deficiency, Japanese type [RCV000019958]\|Adenine phosphoribosyltransferase deficiency [RCV000033908]	pathogenic	16	88809834	88809834	Human	1	name , trait , alternate_id
8600944	CV33339	single nucleotide variant	NM_000485.3(APRT):c.329T>C (p.Leu110Pro)	Adenine phosphoribosyltransferase deficiency [RCV000019962]	pathogenic	16	88810141	88810141	Human	1	name , alternate_id
8600945	CV33341	single nucleotide variant	NM_000485.3(APRT):c.542G>C (p.Ter181Ser)	Adenine phosphoribosyltransferase deficiency [RCV000019964]	pathogenic	16	88809699	88809699	Human	1	name , alternate_id
11616217	CV336616	single nucleotide variant	NM_000485.3(APRT):c.316G>A (p.Gly106Arg)	Adenine phosphoribosyltransferase deficiency [RCV000292516]	uncertain significance	16	88810428	88810428	Human	1	name , alternate_id
408383343	CV3518400	single nucleotide variant	NM_000485.3(APRT):c.482C>A (p.Ser161Ter)	Adenine phosphoribosyltransferase deficiency [RCV004759724]	pathogenic	16	88809759	88809759	Human	1	name , alternate_id
597758663	CV3715791	single nucleotide variant	NM_000485.3(APRT):c.534G>C (p.Gln178His)	Adenine phosphoribosyltransferase deficiency [RCV005017855]	uncertain significance	16	88809707	88809707	Human	1	name , alternate_id
597759125	CV3715792	single nucleotide variant	NM_000485.3(APRT):c.519C>G (p.Phe173Leu)	Adenine phosphoribosyltransferase deficiency [RCV005017856]	uncertain significance	16	88809722	88809722	Human	1	name , alternate_id
597759130	CV3715793	single nucleotide variant	NM_000485.3(APRT):c.494G>C (p.Arg165Thr)	Adenine phosphoribosyltransferase deficiency [RCV005017857]	uncertain significance	16	88809747	88809747	Human	1	name , alternate_id
597759135	CV3715794	single nucleotide variant	NM_000485.3(APRT):c.470T>C (p.Val157Ala)	Adenine phosphoribosyltransferase deficiency [RCV005017858]	uncertain significance	16	88809771	88809771	Human	1	name , alternate_id
597758681	CV3715795	single nucleotide variant	NM_000485.3(APRT):c.434G>A (p.Arg145His)	Adenine phosphoribosyltransferase deficiency [RCV005017859]	uncertain significance	16	88809807	88809807	Human	1	name , alternate_id
597758686	CV3715796	single nucleotide variant	NM_000485.3(APRT):c.412G>A (p.Ala138Thr)	Adenine phosphoribosyltransferase deficiency [RCV005017860]	uncertain significance	16	88809829	88809829	Human	1	name , alternate_id
597758693	CV3715797	single nucleotide variant	NM_000485.3(APRT):c.392C>A (p.Ala131Asp)	Adenine phosphoribosyltransferase deficiency [RCV005017861]	uncertain significance	16	88810078	88810078	Human	1	name , alternate_id
597758698	CV3715799	single nucleotide variant	NM_000485.3(APRT):c.386T>G (p.Leu129Arg)	Adenine phosphoribosyltransferase deficiency [RCV005017862]	uncertain significance	16	88810084	88810084	Human	1	name , alternate_id
597758703	CV3715800	single nucleotide variant	NM_000485.3(APRT):c.366G>C (p.Arg122Ser)	Adenine phosphoribosyltransferase deficiency [RCV005017863]	uncertain significance	16	88810104	88810104	Human	1	name , alternate_id
597758708	CV3715801	single nucleotide variant	NM_000485.3(APRT):c.365G>A (p.Arg122Lys)	Adenine phosphoribosyltransferase deficiency [RCV005017864]	uncertain significance	16	88810105	88810105	Human	1	name , alternate_id
597758713	CV3715802	single nucleotide variant	NM_000485.3(APRT):c.356C>T (p.Pro119Leu)	Adenine phosphoribosyltransferase deficiency [RCV005017865]	uncertain significance	16	88810114	88810114	Human	1	name , alternate_id
597758718	CV3715803	single nucleotide variant	NM_000485.3(APRT):c.350T>C (p.Leu117Pro)	Adenine phosphoribosyltransferase deficiency [RCV005017866]	uncertain significance	16	88810120	88810120	Human	1	name , alternate_id
598233038	CV3886515	single nucleotide variant	NM_000485.3(APRT):c.397G>C (p.Gly133Arg)	Adenine phosphoribosyltransferase deficiency [RCV005255959]	likely pathogenic	16	88810073	88810073	Human	1	name , alternate_id
8604561	CV49434	single nucleotide variant	NM_000485.3(APRT):c.448G>T (p.Val150Phe)	Adenine phosphoribosyltransferase deficiency [RCV000033909]	pathogenic	16	88809793	88809793	Human	1	name , alternate_id
15181162	CV740494	single nucleotide variant	NM_000485.3(APRT):c.362A>G (p.Gln121Arg)	not provided [RCV000907520]	likely benign	16	88810108	88810108	Human		name
26886909	CV844475	single nucleotide variant	NM_000485.3(APRT):c.482C>T (p.Ser161Leu)	Adenine phosphoribosyltransferase deficiency [RCV002479337]\|not provided [RCV001055578]	uncertain significance	16	88809759	88809759	Human	1	name , alternate_id
28891119	CV876141	single nucleotide variant	NM_000485.3(APRT):c.433C>A (p.Arg145Ser)	Adenine phosphoribosyltransferase deficiency [RCV001120853]	uncertain significance	16	88809808	88809808	Human	1	name , alternate_id
28875466	CV876144	single nucleotide variant	NM_000485.3(APRT):c.346G>A (p.Ala116Thr)	Adenine phosphoribosyltransferase deficiency [RCV001115918]\|not provided [RCV001321688]	likely benign\|uncertain significance	16	88810124	88810124	Human	1	name , alternate_id
40903666	CV975955	single nucleotide variant	NM_000485.3(APRT):c.543A>T (p.Ter181Cys)	Adenine phosphoribosyltransferase deficiency [RCV001269418]	pathogenic	16	88809698	88809698	Human	1	name , alternate_id
40903665	CV975956	single nucleotide variant	NM_000485.3(APRT):c.541T>C (p.Ter181Arg)	Adenine phosphoribosyltransferase deficiency [RCV001269417]	pathogenic	16	88809700	88809700	Human	1	name , alternate_id
40903664	CV975957	single nucleotide variant	NM_000485.3(APRT):c.532C>T (p.Gln178Ter)	Adenine phosphoribosyltransferase deficiency [RCV001269416]	pathogenic	16	88809709	88809709	Human	1	name , alternate_id
40903662	CV975959	single nucleotide variant	NM_000485.3(APRT):c.526C>T (p.Leu176Phe)	Adenine phosphoribosyltransferase deficiency [RCV001269414]	pathogenic	16	88809715	88809715	Human	1	name , alternate_id
40903717	CV975960	single nucleotide variant	NM_000485.3(APRT):c.524C>T (p.Ser175Phe)	Adenine phosphoribosyltransferase deficiency [RCV001269463]	likely pathogenic	16	88809717	88809717	Human	1	name , alternate_id
40903714	CV975963	single nucleotide variant	NM_000485.3(APRT):c.491G>A (p.Gly164Asp)	APRT-related disorder [RCV004758154]\|Adenine phosphoribosyltransferase deficiency [RCV001269461]	pathogenic\|uncertain significance	16	88809750	88809750	Human	1	name , trait , alternate_id
40903709	CV975966	single nucleotide variant	NM_000485.3(APRT):c.457T>C (p.Cys153Arg)	Adenine phosphoribosyltransferase deficiency [RCV001269458]	pathogenic	16	88809784	88809784	Human	1	name , alternate_id
40903708	CV975967	single nucleotide variant	NM_000485.3(APRT):c.439C>T (p.Gln147Ter)	Adenine phosphoribosyltransferase deficiency [RCV001269457]	pathogenic\|likely pathogenic	16	88809802	88809802	Human	1	name , alternate_id
40903706	CV975968	single nucleotide variant	NM_000485.3(APRT):c.428T>C (p.Leu143Pro)	Adenine phosphoribosyltransferase deficiency [RCV001269456]	pathogenic	16	88809813	88809813	Human	1	name , alternate_id
40903702	CV975971	single nucleotide variant	NM_000485.3(APRT):c.398G>A (p.Gly133Asp)	Adenine phosphoribosyltransferase deficiency [RCV001269452]	pathogenic	16	88810072	88810072	Human	1	name , alternate_id
40903705	CV975972	single nucleotide variant	NM_000485.3(APRT):c.389T>C (p.Leu130Pro)	Adenine phosphoribosyltransferase deficiency [RCV001269455]	likely pathogenic	16	88810081	88810081	Human	1	name , alternate_id
40903701	CV975973	single nucleotide variant	NM_000485.3(APRT):c.380A>G (p.Asp127Gly)	Adenine phosphoribosyltransferase deficiency [RCV001269451]	pathogenic	16	88810090	88810090	Human	1	name , alternate_id
40903699	CV975974	single nucleotide variant	NM_000485.3(APRT):c.371T>G (p.Val124Gly)	Adenine phosphoribosyltransferase deficiency [RCV001269450]	pathogenic	16	88810099	88810099	Human	1	name , alternate_id
40903698	CV975975	single nucleotide variant	NM_000485.3(APRT):c.359G>T (p.Gly120Val)	Adenine phosphoribosyltransferase deficiency [RCV001269449]	pathogenic	16	88810111	88810111	Human	1	name , alternate_id
40903697	CV975976	single nucleotide variant	NM_000485.3(APRT):c.352G>C (p.Glu118Gln)	Adenine phosphoribosyltransferase deficiency [RCV001269448]\|not provided [RCV003558783]	pathogenic\|uncertain significance	16	88810118	88810118	Human	1	name , alternate_id
40903695	CV975977	single nucleotide variant	NM_000485.3(APRT):c.334A>T (p.Ile112Phe)	Adenine phosphoribosyltransferase deficiency [RCV001269447]\|not provided [RCV003558782]	pathogenic\|likely pathogenic\|uncertain significance	16	88810136	88810136	Human	1	name , alternate_id
40903694	CV975978	single nucleotide variant	NM_000485.3(APRT):c.311A>G (p.Glu104Gly)	Adenine phosphoribosyltransferase deficiency [RCV001269446]	pathogenic	16	88810433	88810433	Human	1	name , alternate_id
151789081	CV1468129	deletion	NM_000485.3(APRT):c.279_283del (p.Gly94fs)	not provided [RCV001972872]	pathogenic	16	88810461	88810465	Human		name
8600943	CV33338	duplication	NM_000485.3(APRT):c.258_261dup (p.Lys88fs)	Adenine phosphoribosyltransferase deficiency [RCV000033904]	pathogenic	16	88810482	88810483	Human	1	name , alternate_id
597758741	CV3715811	deletion	NM_000485.3(APRT):c.116_137del (p.Phe39fs)	Adenine phosphoribosyltransferase deficiency [RCV005017871]	likely pathogenic	16	88811600	88811621	Human	1	name , alternate_id
40903693	CV975980	microsatellite	NM_000485.3(APRT):c.289_290del (p.Leu97fs)	Adenine phosphoribosyltransferase deficiency [RCV001269445]	pathogenic	16	88810454	88810455	Human		name , alternate_id
40903692	CV975981	deletion	NM_000485.3(APRT):c.286_287del (p.Thr96fs)	Adenine phosphoribosyltransferase deficiency [RCV001269444]\|not provided [RCV001880178]	pathogenic\|likely pathogenic	16	88810457	88810458	Human	1	name , alternate_id
40903691	CV975982	deletion	NM_000485.3(APRT):c.280_286del (p.Gly94fs)	Adenine phosphoribosyltransferase deficiency [RCV001269443]	pathogenic\|likely pathogenic	16	88810458	88810464	Human	1	name , alternate_id
156320317	CV2182566	microsatellite	NM_000485.3(APRT):c.372CGT[1] (p.Val126del)	not provided [RCV003046556]	uncertain significance	16	88810093	88810095	Human		name
405115660	CV2951596	deletion	NM_000485.3(APRT):c.388_397del (p.Leu130fs)	not provided [RCV003670920]	pathogenic	16	88810073	88810082	Human		name
8600941	CV33333	microsatellite	NM_000485.3(APRT):c.518TCT[1] (p.Phe174del)	Adenine phosphoribosyltransferase deficiency [RCV000019956]\|See cases [RCV002251916]\|not provided [RCV003546458]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	16	88809718	88809720	Human		name , alternate_id
597899564	CV3782907	duplication	NM_000485.3(APRT):c.452_453dup (p.Glu152fs)	not provided [RCV005126927]	pathogenic	16	88809787	88809788	Human		name
40903663	CV975958	deletion	NM_000485.3(APRT):c.526_530del (p.Leu176fs)	Adenine phosphoribosyltransferase deficiency [RCV001269415]	pathogenic	16	88809711	88809715	Human	1	name , alternate_id
40903711	CV975965	deletion	NM_000485.3(APRT):c.461_462del (p.Val154fs)	Adenine phosphoribosyltransferase deficiency [RCV001269459]	pathogenic	16	88809779	88809780	Human	1	name , alternate_id
40903680	CV975992	insertion	NM_000485.3(APRT):c.180_181insT (p.Ile61fs)	Adenine phosphoribosyltransferase deficiency [RCV001269432]	pathogenic	16	88811556	88811557	Human	1	name , alternate_id
151744336	CV1401552	deletion	NM_000485.3(APRT):c.484_486del (p.Leu162del)	not provided [RCV001947425]	likely pathogenic\|uncertain significance	16	88809755	88809757	Human		name
40903661	CV975961	deletion	NM_000485.3(APRT):c.522_524del (p.Ser175del)	Adenine phosphoribosyltransferase deficiency [RCV001269413]	pathogenic	16	88809717	88809719	Human	1	name , alternate_id
40903712	CV975964	deletion	NM_000485.3(APRT):c.472_474del (p.Glu158del)	Adenine phosphoribosyltransferase deficiency [RCV001269460]	pathogenic	16	88809767	88809769	Human	1	name , alternate_id
8566679	CV33340	indel	NM_000485.3(APRT):c.188-145_296delinsTTCCCGTA	Adenine phosphoribosyltransferase deficiency [RCV000019963]\|not provided [RCV005089284]	pathogenic\|likely pathogenic	16	88810448	88810701	Human		name , alternate_id
8659200	CV134120	single nucleotide variant	NM_030928.4(CDT1):c.1521G>A (p.Pro507=)	Adenine phosphoribosyltransferase deficiency [RCV002505041]\|not provided [RCV000970314]\|not specified [RCV000116643]	benign\|likely benign	16	88808158	88808158	Human	1	alternate_id
11550249	CV255948	single nucleotide variant	NM_000512.5(GALNS):c.*36G>A	Adenine phosphoribosyltransferase deficiency [RCV000335305]\|Morquio syndrome [RCV000302569]\|Mucopolysaccharidosis, MPS-IV-A [RCV001117488]\|not provided [RCV001668438]\|not specified [RCV000251496]	benign	16	88814403	88814403	Human	3	alternate_id
11666583	CV326786	single nucleotide variant	NM_000512.5(GALNS):c.*611A>G	Adenine phosphoribosyltransferase deficiency [RCV000382979]\|Morquio syndrome [RCV000358140]\|Mucopolysaccharidosis, MPS-IV-A [RCV001118986]\|not provided [RCV004709546]	benign	16	88813828	88813828	Human	3	alternate_id
11665226	CV336637	single nucleotide variant	NM_000512.5(GALNS):c.*524G>C	Adenine phosphoribosyltransferase deficiency [RCV000295639]\|Morquio syndrome [RCV000260216]\|Mucopolysaccharidosis, MPS-IV-A [RCV001118987]\|not provided [RCV004705344]	benign\|likely benign	16	88813915	88813915	Human	3	alternate_id
11665527	CV336644	single nucleotide variant	NM_000512.5(GALNS):c.*296A>G	Adenine phosphoribosyltransferase deficiency [RCV000400354]\|Morquio syndrome [RCV000277821]\|Mucopolysaccharidosis, MPS-IV-A [RCV001120960]\|not provided [RCV001613028]	benign\|likely benign	16	88814143	88814143	Human	3	alternate_id
11665870	CV342882	single nucleotide variant	NM_000512.5(GALNS):c.*224C>G	Adenine phosphoribosyltransferase deficiency [RCV000299081]\|Morquio syndrome [RCV000348177]\|Mucopolysaccharidosis, MPS-IV-A [RCV001116033]\|not provided [RCV001582962]	benign\|likely benign	16	88814215	88814215	Human	3	alternate_id
11665757	CV344525	single nucleotide variant	NM_000512.5(GALNS):c.*701C>G	Adenine phosphoribosyltransferase deficiency [RCV000292105]\|Morquio syndrome [RCV000393994]\|Mucopolysaccharidosis, MPS-IV-A [RCV001117375]\|not provided [RCV004709544]	benign	16	88813738	88813738	Human	3	alternate_id
11665968	CV344528	single nucleotide variant	NM_000512.5(GALNS):c.*652A>G	Adenine phosphoribosyltransferase deficiency [RCV000344622]\|Morquio syndrome [RCV000305896]\|Mucopolysaccharidosis, MPS-IV-A [RCV001117377]\|not provided [RCV004709545]	benign	16	88813787	88813787	Human	3	alternate_id
11666471	CV344533	single nucleotide variant	NM_000512.5(GALNS):c.*367T>C	Adenine phosphoribosyltransferase deficiency [RCV000348247]\|Morquio syndrome [RCV000388537]\|Mucopolysaccharidosis, MPS-IV-A [RCV001120959]\|not provided [RCV001597086]	benign	16	88814072	88814072	Human	3	alternate_id
11666174	CV353363	single nucleotide variant	NC_000016.10:g.88811949G>T	Adenine phosphoribosyltransferase deficiency [RCV000322291]\|Morquio syndrome [RCV000383897]\|not provided [RCV001683467]	benign\|likely benign	16	88811949	88811949	Human	2	alternate_id
28875707	CV876154	single nucleotide variant	NM_000512.5(GALNS):c.*212C>A	Adenine phosphoribosyltransferase deficiency [RCV001118989]\|Mucopolysaccharidosis, MPS-IV-A [RCV001116034]\|not provided [RCV004693710]	uncertain significance	16	88814227	88814227	Human	2	alternate_id
40903667	CV975954	deletion	NM_000485.2:c.-1_*1del	Adenine phosphoribosyltransferase deficiency [RCV001269419]	pathogenic				Human	1	alternate_id

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