Nt5c3 Variant Search Result - Rat Genome Database

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148 records found for search term Nt5c3

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
150339678	CV1167411	single nucleotide variant	NM_001002010.5(NT5C3A):c.*230T>C	not provided [RCV001534453]	benign	7	33014500	33014500	Human		name
150465856	CV1240311	deletion	NM_001002010.5(NT5C3A):c.*227del	not provided [RCV001650072]	benign	7	33014503	33014503	Human		name
127289541	CV1152267	deletion	NM_001002010.5(NT5C3A):c.895-3del	not provided [RCV001509306]	uncertain significance	7	33014834	33014834	Human		name
151349497	CV1321281	single nucleotide variant	NM_001002010.5(NT5C3A):c.354+6C>A	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001802261]\|NT5C3A-related disorder [RCV003941138]	likely benign	7	33022047	33022047	Human	1	name , trait , alternate_id
151349613	CV1321466	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-4T>G	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001802447]\|not provided [RCV002074161]	benign	7	33026919	33026919	Human	1	name
8596442	CV19520	single nucleotide variant	NM_001002010.5(NT5C3A):c.694-1G>T	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004738]	pathogenic	7	33015871	33015871	Human	1	name
8596445	CV19524	single nucleotide variant	NM_001002010.5(NT5C3A):c.694-1G>C	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004742]	pathogenic	7	33015871	33015871	Human	1	name
401960996	CV2844376	single nucleotide variant	NM_001002010.5(NT5C3A):c.693+1G>A	not provided [RCV003480171]	likely pathogenic	7	33017438	33017438	Human		name
405238972	CV2983236	single nucleotide variant	NM_001002010.5(NT5C3A):c.694-4A>G	not provided [RCV003683608]	likely benign	7	33015874	33015874	Human		name
405202888	CV3116739	single nucleotide variant	NM_001002010.5(NT5C3A):c.894+8T>C	not provided [RCV003822222]	likely benign	7	33015662	33015662	Human		name
21069498	CV796034	single nucleotide variant	NM_001002010.5(NT5C3A):c.895-2A>G	not provided [RCV000998786]	likely pathogenic\|conflicting interpretations of pathogenicity	7	33014833	33014833	Human		name
21405952	CV799509	single nucleotide variant	NM_001002010.5(NT5C3A):c.440+9A>G	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001001517]\|not provided [RCV002068773]	benign	7	33021263	33021263	Human	1	name
150454338	CV1260646	single nucleotide variant	NM_001002010.5(NT5C3A):c.441-71T>C	not provided [RCV001681139]	benign	7	33019795	33019795	Human		name
152079125	CV1632358	single nucleotide variant	NM_001002010.5(NT5C3A):c.693+17G>A	not provided [RCV002130609]	likely benign	7	33017422	33017422	Human		name
156246779	CV1969575	single nucleotide variant	NM_001002010.5(NT5C3A):c.693+16C>T	not provided [RCV002597335]	likely benign	7	33017423	33017423	Human		name
155909586	CV2017551	deletion	NM_001002010.5(NT5C3A):c.694-17del	not provided [RCV002681615]	uncertain significance	7	33015887	33015887	Human		name
405082244	CV3081490	single nucleotide variant	NM_001002010.5(NT5C3A):c.354+17A>G	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003613030]	likely benign	7	33022036	33022036	Human	1	name
405141402	CV3125823	single nucleotide variant	NM_001002010.5(NT5C3A):c.694-12T>C	not provided [RCV003816738]	likely benign	7	33015882	33015882	Human		name
597966825	CV3823895	single nucleotide variant	NM_001002010.5(NT5C3A):c.530+13G>C	not provided [RCV005165315]	likely benign	7	33019622	33019622	Human		name
150331776	CV1169243	single nucleotide variant	NM_001002010.5(NT5C3A):c.693+131C>T	not provided [RCV001536620]	benign	7	33017308	33017308	Human		name
150476027	CV1216752	single nucleotide variant	NM_001002010.5(NT5C3A):c.895-267G>A	not provided [RCV001616045]	benign	7	33015098	33015098	Human		name
150436883	CV1220626	single nucleotide variant	NM_001002010.5(NT5C3A):c.138+213G>A	not provided [RCV001609610]	benign	7	33062355	33062355	Human		name
150437235	CV1220689	single nucleotide variant	NM_001002010.5(NT5C3A):c.894+141G>A	not provided [RCV001609674]	benign	7	33015529	33015529	Human		name
150479996	CV1221883	single nucleotide variant	NM_001002010.5(NT5C3A):c.354+266A>G	not provided [RCV001616679]	benign	7	33021787	33021787	Human		name
150508278	CV1229605	single nucleotide variant	NM_001002010.5(NT5C3A):c.895-351A>G	not provided [RCV001636183]	benign	7	33015182	33015182	Human		name
150454816	CV1232343	single nucleotide variant	NM_001002010.5(NT5C3A):c.440+129T>G	not provided [RCV001648356]	benign	7	33021143	33021143	Human		name
150468966	CV1243081	single nucleotide variant	NM_001002010.5(NT5C3A):c.894+118A>G	not provided [RCV001650599]	benign	7	33015552	33015552	Human		name
150475759	CV1263548	single nucleotide variant	NM_001002010.5(NT5C3A):c.237+209G>A	not provided [RCV001685071]	benign	7	33026608	33026608	Human		name
150439086	CV1266724	deletion	NM_001002010.5(NT5C3A):c.693+256del	not provided [RCV001690159]	benign	7	33017183	33017183	Human		name
150503506	CV1285770	single nucleotide variant	NM_001002010.5(NT5C3A):c.307+159T>C	not provided [RCV001719193]	benign	7	33023880	33023880	Human		name
150503646	CV1285798	single nucleotide variant	NM_001002010.5(NT5C3A):c.355-266A>G	not provided [RCV001719221]	benign	7	33021623	33021623	Human		name
150442561	CV1287744	single nucleotide variant	NM_001002010.5(NT5C3A):c.531-295T>C	not provided [RCV001725465]	benign	7	33017896	33017896	Human		name
150452715	CV1260430	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-8721T>C	not provided [RCV001680920]	benign	7	33035636	33035636	Human		name
150477065	CV1262449	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-9268G>A	not provided [RCV001685262]	benign	7	33036183	33036183	Human		name
152173047	CV1572701	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-9025G>T	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003611566]\|not provided [RCV002162664]	likely benign	7	33035940	33035940	Human	1	name
156141426	CV2137943	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-9034C>T	not provided [RCV002982327]	likely benign	7	33035949	33035949	Human		name
156004343	CV2400975	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-9035C>T	not specified [RCV004244260]	uncertain significance	7	33035950	33035950	Human		name
405264423	CV3189959	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-9061C>A	NT5C3A-related disorder [RCV003897003]	likely benign	7	33035976	33035976	Human		name , trait , alternate_id
597948182	CV3852444	duplication	NM_001002010.5(NT5C3A):c.139-9021dup	not provided [RCV005189522]	pathogenic	7	33035935	33035936	Human		name
41407380	CV981600	single nucleotide variant	NM_001002010.5(NT5C3A):c.139-9046T>C	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001289724]\|not provided [RCV001692371]	benign	7	33035961	33035961	Human	1	name
41405703	CV981601	deletion	NM_001002010.5(NT5C3A):c.139-9060del	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001287233]	benign	7	33035975	33035975	Human	1	name
127289545	CV1152268	indel	NM_001002010.5(NT5C3A):c.-42_-41delinsAT	not provided [RCV001509307]	uncertain significance	7	33062746	33062747	Human		name
150477314	CV1279425	insertion	NM_001002010.5(NT5C3A):c.224_225insTCTT	not provided [RCV001714114]	benign	7	33014505	33014506	Human		name
155977446	CV2073159	deletion	NM_001002010.5(NT5C3A):c.694-20_694-19del	not provided [RCV002842357]	likely benign	7	33015889	33015890	Human		name
150485503	CV1250240	deletion	NM_001002010.5(NT5C3A):c.440+279_440+280del	not provided [RCV001673853]	benign	7	33020992	33020993	Human		name
404977514	CV2850660	deletion	NM_001002010.5(NT5C3A):c.139-9048_139-9037del	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486173]	uncertain significance	7	33035952	33035963	Human	1	name
405030749	CV3081307	single nucleotide variant	NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003613026]\|NT5C3A-related disorder [RCV004757613]	likely benign	7	33062577	33062577	Human	1	name , trait , alternate_id
156435944	CV2402100	single nucleotide variant	NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003120259]	likely benign	7	33062685	33062685	Human	1	name
405726915	CV3359565	single nucleotide variant	NM_052935.5(NT5C3B):c.82C>G (p.Leu28Val)	not specified [RCV004495897]	uncertain significance	17	41835888	41835888	Human		name
156222267	CV2208945	single nucleotide variant	NM_052935.5(NT5C3B):c.260T>C (p.Ile87Thr)	not specified [RCV004085293]	uncertain significance	17	41832446	41832446	Human		name
156270081	CV2326432	single nucleotide variant	NM_052935.5(NT5C3B):c.196A>T (p.Ser66Cys)	not specified [RCV004183002]	uncertain significance	17	41835102	41835102	Human		name
405726877	CV3359561	single nucleotide variant	NM_052935.5(NT5C3B):c.112G>A (p.Val38Met)	not specified [RCV004495893]	uncertain significance	17	41835272	41835272	Human		name
405726887	CV3359562	single nucleotide variant	NM_052935.5(NT5C3B):c.217T>C (p.Cys73Arg)	not specified [RCV004495894]	uncertain significance	17	41835081	41835081	Human		name
405726894	CV3359563	single nucleotide variant	NM_052935.5(NT5C3B):c.248A>G (p.His83Arg)	not specified [RCV004495895]	uncertain significance	17	41832458	41832458	Human		name
407477116	CV3462128	single nucleotide variant	NM_052935.5(NT5C3B):c.178T>G (p.Tyr60Asp)	not specified [RCV004638770]	uncertain significance	17	41835206	41835206	Human		name
598121988	CV3883015	single nucleotide variant	NM_001002010.5(NT5C3A):c.93C>T (p.Phe31=)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV005234548]	likely benign	7	33062613	33062613	Human	1	name
598265138	CV3994838	single nucleotide variant	NM_052935.5(NT5C3B):c.278G>A (p.Arg93Gln)	not specified [RCV005387892]	uncertain significance	17	41832428	41832428	Human		name
598221348	CV3994840	single nucleotide variant	NM_052935.5(NT5C3B):c.126T>G (p.Phe42Leu)	not specified [RCV005379637]	uncertain significance	17	41835258	41835258	Human		name
156028816	CV2185814	single nucleotide variant	NM_001002010.5(NT5C3A):c.267T>C (p.Ser89=)	not provided [RCV003036095]	likely benign	7	33024079	33024079	Human		name
156016474	CV2360463	single nucleotide variant	NM_052935.5(NT5C3B):c.466T>C (p.Ser156Pro)	not specified [RCV004208783]	uncertain significance	17	41828891	41828891	Human		name
156388299	CV2380270	single nucleotide variant	NM_052935.5(NT5C3B):c.392A>G (p.Asn131Ser)	not specified [RCV004224625]	likely benign	17	41830813	41830813	Human		name
156056562	CV2396250	single nucleotide variant	NM_052935.5(NT5C3B):c.458T>C (p.Phe153Ser)	not specified [RCV004240202]	uncertain significance	17	41828899	41828899	Human		name
405726906	CV3359564	single nucleotide variant	NM_052935.5(NT5C3B):c.305T>C (p.Met102Thr)	not specified [RCV004495896]	uncertain significance	17	41832401	41832401	Human		name
407521451	CV3462130	single nucleotide variant	NM_052935.5(NT5C3B):c.565G>A (p.Asp189Asn)	not specified [RCV004652531]	uncertain significance	17	41828792	41828792	Human		name
597708226	CV3577157	single nucleotide variant	NM_052935.5(NT5C3B):c.423C>A (p.Phe141Leu)	not specified [RCV004840537]	uncertain significance	17	41828934	41828934	Human		name
597839489	CV3737029	single nucleotide variant	NM_001002010.5(NT5C3A):c.246G>A (p.Thr82=)	not provided [RCV005064509]	likely benign	7	33024100	33024100	Human		name
598221331	CV3994837	single nucleotide variant	NM_052935.5(NT5C3B):c.446A>G (p.Asn149Ser)	not specified [RCV005379635]	uncertain significance	17	41828911	41828911	Human		name
598265144	CV3994841	single nucleotide variant	NM_052935.5(NT5C3B):c.522C>A (p.His174Gln)	not specified [RCV005387893]	uncertain significance	17	41828835	41828835	Human		name
151349534	CV1321338	single nucleotide variant	NM_001002010.5(NT5C3A):c.91T>C (p.Phe31Leu)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001802318]\|not provided [RCV004707720]	benign\|likely benign	7	33062615	33062615	Human	3	name
152084778	CV1554950	single nucleotide variant	NM_001002010.5(NT5C3A):c.381C>T (p.Tyr127=)	not provided [RCV002211894]	likely benign	7	33021331	33021331	Human		name
152060437	CV1650604	single nucleotide variant	NM_001002010.5(NT5C3A):c.324T>C (p.Cys108=)	not provided [RCV002128277]	likely benign	7	33022083	33022083	Human		name
152126181	CV1665890	single nucleotide variant	NM_001002010.5(NT5C3A):c.489T>G (p.Ala163=)	not provided [RCV002198703]	likely benign	7	33019676	33019676	Human		name
156294705	CV1995185	single nucleotide variant	NM_001002010.5(NT5C3A):c.405T>C (p.Leu135=)	not provided [RCV002670905]	likely benign	7	33021307	33021307	Human		name
156291690	CV1998137	single nucleotide variant	NM_001002010.5(NT5C3A):c.582G>A (p.Val194=)	not provided [RCV002670791]	likely benign	7	33017550	33017550	Human		name
155987610	CV2153991	single nucleotide variant	NM_001002010.5(NT5C3A):c.669C>A (p.Ser223=)	not provided [RCV003016667]	likely benign	7	33017463	33017463	Human		name
597684694	CV3577153	single nucleotide variant	NM_001002010.5(NT5C3A):c.43G>T (p.Ala15Ser)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV005230799]\|not specified [RCV004840534]	likely benign\|uncertain significance	7	33062663	33062663	Human	1	name
597938593	CV3760136	single nucleotide variant	NM_001002010.5(NT5C3A):c.603C>T (p.Ile201=)	not provided [RCV005077060]	likely benign	7	33017529	33017529	Human		name
597867294	CV3764073	single nucleotide variant	NM_001002010.5(NT5C3A):c.519C>T (p.Asp173=)	not provided [RCV005107070]	likely benign	7	33019646	33019646	Human		name
598265132	CV3994835	single nucleotide variant	NM_001002010.5(NT5C3A):c.65C>T (p.Ala22Val)	not specified [RCV005387891]	uncertain significance	7	33062641	33062641	Human		name
598221323	CV3994836	single nucleotide variant	NM_001002010.5(NT5C3A):c.31G>C (p.Ala11Pro)	not specified [RCV005379634]	uncertain significance	7	33062675	33062675	Human		name
13436159	CV433763	single nucleotide variant	NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000506680]\|not provided [RCV001722432]	benign	7	33021334	33021334	Human	1	name
15115026	CV710976	single nucleotide variant	NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001286944]\|not provided [RCV000961779]	benign	7	33015703	33015703	Human	1	name
15145711	CV710977	single nucleotide variant	NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001804143]\|not provided [RCV000967044]	benign	7	33021304	33021304	Human	1	name
150520316	CV1289525	duplication	NM_001002010.5(NT5C3A):c.342dup (p.Cys115fs)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001728169]	likely pathogenic	7	33022064	33022065	Human	1	name
8654636	CV19523	duplication	NM_001002010.5(NT5C3A):c.486dup (p.Ala163fs)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004741]	pathogenic	7	33019678	33019679	Human	1	name
8596447	CV19526	deletion	NM_001002010.5(NT5C3A):c.679del (p.Asp227fs)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004744]	pathogenic	7	33017453	33017453	Human	1	name
156351155	CV1997636	single nucleotide variant	NM_001002010.5(NT5C3A):c.278A>G (p.Tyr93Cys)	not provided [RCV002675604]	uncertain significance	7	33024068	33024068	Human		name
155912568	CV2021764	deletion	NM_001002010.5(NT5C3A):c.579del (p.Val194fs)	not provided [RCV002726912]	pathogenic	7	33017553	33017553	Human		name
156168313	CV2270552	single nucleotide variant	NM_001002010.5(NT5C3A):c.137T>C (p.Met46Thr)	not specified [RCV004137502]	uncertain significance	7	33062569	33062569	Human		name
401753346	CV2720719	single nucleotide variant	NM_001002010.5(NT5C3A):c.257T>C (p.Met86Thr)	not specified [RCV004328077]	uncertain significance	7	33024089	33024089	Human		name
404977504	CV2850655	single nucleotide variant	NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486168]	uncertain significance	7	33024092	33024092	Human	1	name
404977518	CV2850662	single nucleotide variant	NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486175]	uncertain significance	7	33026912	33026912	Human	1	name
405235599	CV3040933	single nucleotide variant	NM_001002010.5(NT5C3A):c.167G>A (p.Arg56Gln)	not provided [RCV003712301]	uncertain significance	7	33026887	33026887	Human		name
405082281	CV3081646	single nucleotide variant	NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003613035]	uncertain significance	7	33024078	33024078	Human	1	name
405726860	CV3359559	single nucleotide variant	NM_001002010.5(NT5C3A):c.221G>A (p.Gly74Glu)	not specified [RCV004495891]	uncertain significance	7	33026833	33026833	Human		name
598127632	CV3882788	single nucleotide variant	NM_001002010.5(NT5C3A):c.163G>A (p.Val55Ile)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV005234319]	uncertain significance	7	33026891	33026891	Human	1	name
38468114	CV920778	single nucleotide variant	NM_001002010.5(NT5C3A):c.248A>T (p.Asp83Val)	not provided [RCV001200532]	uncertain significance	7	33024098	33024098	Human		name
150339804	CV980861	single nucleotide variant	NM_001002010.5(NT5C3A):c.166C>T (p.Arg56Ter)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001534612]	pathogenic	7	33026888	33026888	Human	1	name
151349846	CV1321077	single nucleotide variant	NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001803490]\|not specified [RCV004837812]	uncertain significance	7	33017555	33017555	Human	1	name
151349662	CV1321553	single nucleotide variant	NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001802535]	uncertain significance	7	33017462	33017462	Human	1	name
151819951	CV1385923	single nucleotide variant	NM_001002010.5(NT5C3A):c.776A>G (p.Asn259Ser)	not provided [RCV002013277]	uncertain significance	7	33015788	33015788	Human		name
152999438	CV1679793	single nucleotide variant	NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV002251182]	pathogenic	7	33015846	33015846	Human	1	name
8596440	CV19518	single nucleotide variant	NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004736]\|not provided [RCV003555917]	pathogenic\|likely pathogenic	7	33021317	33021317	Human	1	name
8596441	CV19519	single nucleotide variant	NM_001002010.5(NT5C3A):c.631C>T (p.Gln211Ter)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004737]	pathogenic	7	33017501	33017501	Human	1	name
8596444	CV19522	single nucleotide variant	NM_001002010.5(NT5C3A):c.645T>G (p.Tyr215Ter)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004740]	pathogenic	7	33017487	33017487	Human	1	name
8596446	CV19525	single nucleotide variant	NM_001002010.5(NT5C3A):c.671A>G (p.Asn224Ser)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004743]	pathogenic	7	33017461	33017461	Human	1	name
8596448	CV19527	single nucleotide variant	NM_001002010.5(NT5C3A):c.823G>C (p.Gly275Arg)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004745]	pathogenic	7	33015741	33015741	Human	1	name
156356091	CV1971265	single nucleotide variant	NM_001002010.5(NT5C3A):c.976A>G (p.Ile326Val)	not provided [RCV002602173]	uncertain significance	7	33014750	33014750	Human		name
156248463	CV2119782	single nucleotide variant	NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003134568]\|not provided [RCV002959120]\|not specified [RCV004068246]	uncertain significance	7	33014823	33014823	Human	1	name
156216798	CV2128028	single nucleotide variant	NM_001002010.5(NT5C3A):c.949G>C (p.Asp317His)	not provided [RCV002957978]	uncertain significance	7	33014777	33014777	Human		name
156029385	CV2205987	single nucleotide variant	NM_001002010.5(NT5C3A):c.653A>G (p.Asn218Ser)	not provided [RCV005099495]\|not specified [RCV004078406]	uncertain significance	7	33017479	33017479	Human		name
155964987	CV2261720	single nucleotide variant	NM_001002010.5(NT5C3A):c.350A>T (p.Lys117Ile)	not specified [RCV004126021]	uncertain significance	7	33022057	33022057	Human		name
156153579	CV2266007	single nucleotide variant	NM_001002010.5(NT5C3A):c.592T>G (p.Ser198Ala)	not specified [RCV004126833]	uncertain significance	7	33017540	33017540	Human		name
156170944	CV2277058	single nucleotide variant	NM_001002010.5(NT5C3A):c.382G>A (p.Ala128Thr)	not specified [RCV004140377]	uncertain significance	7	33021330	33021330	Human		name
155918506	CV2279242	single nucleotide variant	NM_001002010.5(NT5C3A):c.971A>G (p.Asn324Ser)	not specified [RCV004139766]	uncertain significance	7	33014755	33014755	Human		name
155910437	CV2303595	single nucleotide variant	NM_001002010.5(NT5C3A):c.452C>T (p.Ser151Leu)	not specified [RCV004161681]	uncertain significance	7	33019713	33019713	Human		name
156344489	CV2364289	single nucleotide variant	NM_001002010.5(NT5C3A):c.543G>T (p.Glu181Asp)	not provided [RCV003481434]\|not specified [RCV004223514]	uncertain significance	7	33017589	33017589	Human		name
243057549	CV2408386	single nucleotide variant	NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003133081]	uncertain significance	7	33017533	33017533	Human	1	name
243054995	CV2408387	single nucleotide variant	NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003131835]\|not specified [RCV004636715]	uncertain significance	7	33017578	33017578	Human	1	name
243057550	CV2408388	single nucleotide variant	NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003133082]	uncertain significance	7	33021282	33021282	Human	1	name
243057433	CV2408389	single nucleotide variant	NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003133083]	uncertain significance	7	33019645	33019645	Human	1	name
243054997	CV2408390	single nucleotide variant	NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003131836]	uncertain significance	7	33017504	33017504	Human	1	name
243057435	CV2408391	single nucleotide variant	NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003133084]\|not provided [RCV003481452]	uncertain significance	7	33015755	33015755	Human	1	name
401744158	CV2680903	single nucleotide variant	NM_001002010.5(NT5C3A):c.896T>C (p.Val299Ala)	not specified [RCV004295978]	uncertain significance	7	33014830	33014830	Human		name
401748151	CV2698298	single nucleotide variant	NM_001002010.5(NT5C3A):c.835A>G (p.Met279Val)	not specified [RCV004304846]	uncertain significance	7	33015729	33015729	Human		name
401893730	CV2762016	single nucleotide variant	NM_001002010.5(NT5C3A):c.385A>G (p.Ile129Val)	not specified [RCV004341839]	uncertain significance	7	33021327	33021327	Human		name
401961675	CV2843997	single nucleotide variant	NM_001002010.5(NT5C3A):c.988A>G (p.Ile330Val)	not provided [RCV003481836]	uncertain significance	7	33014738	33014738	Human		name
401961676	CV2843998	single nucleotide variant	NM_001002010.5(NT5C3A):c.581T>G (p.Val194Gly)	not provided [RCV003481837]	uncertain significance	7	33017551	33017551	Human		name
404977505	CV2850656	single nucleotide variant	NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486169]	uncertain significance	7	33017588	33017588	Human	1	name
404977510	CV2850658	single nucleotide variant	NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486171]	uncertain significance	7	33017525	33017525	Human	1	name
404977512	CV2850659	single nucleotide variant	NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486172]	uncertain significance	7	33021350	33021350	Human	1	name
404977517	CV2850661	single nucleotide variant	NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486174]	uncertain significance	7	33015867	33015867	Human	1	name
405056135	CV2932036	single nucleotide variant	NM_001002010.5(NT5C3A):c.403C>A (p.Leu135Ile)	not provided [RCV003580143]	uncertain significance	7	33021309	33021309	Human		name
405076125	CV3007927	single nucleotide variant	NM_001002010.5(NT5C3A):c.440G>A (p.Trp147Ter)	not provided [RCV003716767]	pathogenic	7	33021272	33021272	Human		name
405166674	CV3059734	single nucleotide variant	NM_001002010.5(NT5C3A):c.475G>T (p.Ala159Ser)	not provided [RCV003727503]	uncertain significance	7	33019690	33019690	Human		name
597708206	CV3577154	single nucleotide variant	NM_001002010.5(NT5C3A):c.760A>G (p.Asn254Asp)	not specified [RCV004840535]	uncertain significance	7	33015804	33015804	Human		name
597643343	CV3577155	single nucleotide variant	NM_001002010.5(NT5C3A):c.854A>G (p.Asn285Ser)	not specified [RCV004832592]	uncertain significance	7	33015710	33015710	Human		name
597708216	CV3577156	single nucleotide variant	NM_001002010.5(NT5C3A):c.619G>A (p.Glu207Lys)	not specified [RCV004840536]	uncertain significance	7	33017513	33017513	Human		name
597835969	CV3828332	single nucleotide variant	NM_001002010.5(NT5C3A):c.345T>G (p.Cys115Trp)	not provided [RCV005171224]	uncertain significance	7	33022062	33022062	Human		name
597963759	CV3830287	single nucleotide variant	NM_001002010.5(NT5C3A):c.727C>G (p.His243Asp)	not provided [RCV005164427]	uncertain significance	7	33015837	33015837	Human		name
14394279	CV609661	single nucleotide variant	NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001542432]\|not provided [RCV000757573]	uncertain significance	7	33022082	33022082	Human	1	name
21405717	CV799508	single nucleotide variant	NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001001047]	uncertain significance	7	33017446	33017446	Human	1	name
21405781	CV799510	single nucleotide variant	NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV001001158]\|not provided [RCV002549155]\|not specified [RCV004030266]	uncertain significance	7	33021306	33021306	Human	1	name
8596443	CV19521	duplication	NM_001002010.5(NT5C3A):c.844_845dup (p.Val283fs)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV000004739]\|not provided [RCV005089166]	pathogenic	7	33015718	33015719	Human	1	name
405082098	CV3007336	deletion	NM_001002010.5(NT5C3A):c.499_502del (p.Glu167fs)	not provided [RCV003699122]	pathogenic	7	33019663	33019666	Human		name
38468636	CV920777	deletion	NM_001002010.5(NT5C3A):c.530AAG[1] (p.Glu178del)	not provided [RCV001200531]	uncertain significance	7	33017597	33017599	Human		name
151795445	CV1404381	deletion	NM_001002010.5(NT5C3A):c.582_584del (p.Phe195del)	not provided [RCV002011082]	uncertain significance	7	33017548	33017550	Human		name
404977507	CV2850657	duplication	NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency [RCV003486170]	uncertain significance	7	33014772	33014773	Human	1	name

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