ClinVar for Gene (Select 51251) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3202495	NM_001002010.5(NT5C3A):c.221G>A (p.Gly74Glu)	NT5C3A (G40E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3031407	NM_001002010.5(NT5C3A):c.139-9061C>A	NT5C3A	Single nucleotide variant (intron variant +1 more)	NT5C3A-related condition	GLikely benign
Select item 2961576	NM_001002010.5(NT5C3A):c.894+8T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958515	NM_001002010.5(NT5C3A):c.694-12T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2921185	NM_001002010.5(NT5C3A):c.268A>G (p.Arg90Gly)	NT5C3A (R57G +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2921029	NM_001002010.5(NT5C3A):c.354+17A>G	NT5C3A	Single nucleotide variant (intron variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GLikely benign
Select item 2920844	NM_001002010.5(NT5C3A):c.129C>A (p.Ile43=)	NT5C3A	Single nucleotide variant (5 prime UTR variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GLikely benign
Select item 2908036	NM_001002010.5(NT5C3A):c.475G>T (p.Ala159Ser)	NT5C3A (A125S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874113	NM_001002010.5(NT5C3A):c.167G>A (p.Arg56Gln)	NT5C3A (R56Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2854800	NM_001002010.5(NT5C3A):c.499_502del (p.Glu167fs)	NT5C3A (E100fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2844286	NM_001002010.5(NT5C3A):c.440G>A (p.Trp147Ter)	NT5C3A (W114* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2827284	NM_001002010.5(NT5C3A):c.694-4A>G	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766130	NM_001002010.5(NT5C3A):c.403C>A (p.Leu135Ile)	NT5C3A (L101I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689627	NM_001002010.5(NT5C3A):c.142C>A (p.Pro48Thr)	NT5C3A (P14T +2 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2689626	NM_001002010.5(NT5C3A):c.697G>T (p.Val233Leu)	NT5C3A (V166L +4 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2689625	NM_001002010.5(NT5C3A):c.139-9048_139-9037del	NT5C3A	Deletion (inframe_deletion +2 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2689624	NM_001002010.5(NT5C3A):c.362A>C (p.Gln121Pro)	NT5C3A (Q121P +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2689623	NM_001002010.5(NT5C3A):c.607G>A (p.Asp203Asn)	NT5C3A (D136N +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2689622	NM_001002010.5(NT5C3A):c.921_953dup (p.Glu318_Ser319insAspSerTyrAspIleValLeuValGlnAspGlu)	NT5C3A	Duplication (inframe_insertion)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2689621	NM_001002010.5(NT5C3A):c.544A>C (p.Asn182His)	NT5C3A (N115H +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2689620	NM_001002010.5(NT5C3A):c.254A>T (p.Asp85Val)	NT5C3A (D18V +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2683351	NM_001002010.5(NT5C3A):c.693+1G>A	NT5C3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2682970	NM_001002010.5(NT5C3A):c.581T>G (p.Val194Gly)	NT5C3A (V127G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682969	NM_001002010.5(NT5C3A):c.988A>G (p.Ile330Val)	NT5C3A (I263V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2593158	NM_001002010.5(NT5C3A):c.385A>G (p.Ile129Val)	NT5C3A (I129V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560547	NM_001002010.5(NT5C3A):c.257T>C (p.Met86Thr)	NT5C3A (M53T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527115	NM_001002010.5(NT5C3A):c.835A>G (p.Met279Val)	NT5C3A (M212V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515370	NM_001002010.5(NT5C3A):c.896T>C (p.Val299Ala)	NT5C3A (V232A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2434454	NM_001002010.5(NT5C3A):c.809T>C (p.Leu270Pro)	NT5C3A (L203P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2434453	NM_001002010.5(NT5C3A):c.628C>T (p.Arg210Cys)	NT5C3A (R143C +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2434452	NM_001002010.5(NT5C3A):c.520G>A (p.Val174Ile)	NT5C3A (V107I +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2434451	NM_001002010.5(NT5C3A):c.430A>G (p.Met144Val)	NT5C3A (M110V +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2434450	NM_001002010.5(NT5C3A):c.554A>G (p.Asp185Gly)	NT5C3A (D118G +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2434449	NM_001002010.5(NT5C3A):c.599G>T (p.Gly200Val)	NT5C3A (G133V +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 2428658	NM_001002010.5(NT5C3A):c.21G>A (p.Ala7=)	NT5C3A	Single nucleotide variant (5 prime UTR variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GLikely benign
Select item 2427651	NC_000007.13:g.(?_33054342)_(33185996_?)del	BBS9, RP9 +1 more	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 2411460	NM_001002010.5(NT5C3A):c.139-9035C>T	NT5C3A (A7V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382084	NM_001002010.5(NT5C3A):c.543G>T (p.Glu181Asp)	NT5C3A (E114D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2317712	NM_001002010.5(NT5C3A):c.452C>T (p.Ser151Leu)	NT5C3A (S151L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293306	NM_001002010.5(NT5C3A):c.382G>A (p.Ala128Thr)	NT5C3A (A61T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290736	NM_001002010.5(NT5C3A):c.971A>G (p.Asn324Ser)	NT5C3A (N278S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279439	NM_001002010.5(NT5C3A):c.137T>C (p.Met46Thr)	NT5C3A (M12T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2276185	NM_001002010.5(NT5C3A):c.592T>G (p.Ser198Ala)	NT5C3A (S131A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272324	NM_001002010.5(NT5C3A):c.350A>T (p.Lys117Ile)	NT5C3A (K84I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216502	NM_001002010.5(NT5C3A):c.653A>G (p.Asn218Ser)	NT5C3A (N151S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2127937	NM_001002010.5(NT5C3A):c.267T>C (p.Ser89=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2097382	NM_001002010.5(NT5C3A):c.669C>A (p.Ser223=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074849	NM_001002010.5(NT5C3A):c.139-9034C>T	NT5C3A	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2070549	NM_001002010.5(NT5C3A):c.903G>C (p.Glu301Asp)	NT5C3A (E234D +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency +2 more	GUncertain significance
Select item 2062752	NM_001002010.5(NT5C3A):c.949G>C (p.Asp317His)	NT5C3A (D250H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007498	NM_001002010.5(NT5C3A):c.694-20_694-19del	NT5C3A	Deletion (intron variant)	not provided	GLikely benign
Select item 1967665	NM_001002010.5(NT5C3A):c.579del (p.Val194fs)	NT5C3A (V127fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1950948	NM_001002010.5(NT5C3A):c.694-17del	NT5C3A	Deletion (intron variant)	not provided	GUncertain significance
Select item 1943644	NM_001002010.5(NT5C3A):c.405T>C (p.Leu135=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943149	NM_001002010.5(NT5C3A):c.582G>A (p.Val194=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1941350	NM_001002010.5(NT5C3A):c.278A>G (p.Tyr93Cys)	NT5C3A (Y26C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918824	NM_001002010.5(NT5C3A):c.976A>G (p.Ile326Val)	NT5C3A (I259V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911948	NM_001002010.5(NT5C3A):c.693+16C>T	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809379	GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1	ADCYAP1R1, AQP1 +50 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703687	GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069)	ADCYAP1R1, AQP1 +55 more	Copy number loss	Cyclical vomiting syndrome	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1687500	NM_001002010.5(NT5C3A):c.718G>T (p.Glu240Ter)	NT5C3A (E173* +4 more)	Single nucleotide variant (nonsense +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
Select item 1669636	NM_001002010.5(NT5C3A):c.489T>G (p.Ala163=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1634271	NM_001002010.5(NT5C3A):c.693+17G>A	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632273	NM_001002010.5(NT5C3A):c.324T>C (p.Cys108=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1607391	NM_001002010.5(NT5C3A):c.139-9025G>T	NT5C3A	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GLikely benign
Select item 1561525	NM_001002010.5(NT5C3A):c.381C>T (p.Tyr127=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1502788	NM_001002010.5(NT5C3A):c.582_584del (p.Phe195del)	NT5C3A (F149del +4 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1500103	NM_001002010.5(NT5C3A):c.776A>G (p.Asn259Ser)	NT5C3A (N225S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1330876	NM_001002010.5(NT5C3A):c.670A>C (p.Asn224His)	NT5C3A (N157H +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 1330788	NM_001002010.5(NT5C3A):c.139-4T>G	NT5C3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1330659	NM_001002010.5(NT5C3A):c.91T>C (p.Phe31Leu)	NT5C3A (F31L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GLikely benign
Select item 1330602	NM_001002010.5(NT5C3A):c.354+6C>A	NT5C3A	Single nucleotide variant (intron variant)	NT5C3A-related condition +1 more	GLikely benign
Select item 1330398	NM_001002010.5(NT5C3A):c.577C>A (p.Pro193Thr)	NT5C3A (P126T +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 1299469	NM_001002010.5(NT5C3A):c.342dup (p.Cys115fs)	NT5C3A (C115fs +4 more)	Duplication (frameshift variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GLikely pathogenic
Select item 1297958	NM_001002010.5(NT5C3A):c.531-295T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296003	NM_001002010.5(NT5C3A):c.355-266A>G	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295988	NC_000007.14:g.33062902G>A	NT5C3A	Single nucleotide variant	not provided	GBenign
Select item 1295975	NM_001002010.5(NT5C3A):c.307+159T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289594	NM_001002010.5(NT5C3A):c.224_225insTCTT	NT5C3A	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1278400	NC_000007.14:g.33062888A>C	LOC129998222, NT5C3A	Single nucleotide variant	not provided	GBenign
Select item 1276854	NM_001002010.5(NT5C3A):c.693+256del	NT5C3A	Deletion (intron variant)	not provided	GBenign
Select item 1274274	NM_001002010.5(NT5C3A):c.139-9268G>A	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274083	NM_001002010.5(NT5C3A):c.237+209G>A	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269506	NM_001002010.5(NT5C3A):c.441-71T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269287	NM_001002010.5(NT5C3A):c.139-8721T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259477	NM_001002010.5(NT5C3A):c.440+279_440+280del	NT5C3A	Deletion (intron variant)	not provided	GBenign
Select item 1257930	NC_000007.14:g.33062850C>T	LOC129998222, NT5C3A	Single nucleotide variant	not provided	GBenign
Select item 1253137	NM_001002010.5(NT5C3A):c.894+118A>G	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249936	NM_001002010.5(NT5C3A):c.*227del	NT5C3A	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1244090	NM_001002010.5(NT5C3A):c.440+129T>G	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239275	NM_001002010.5(NT5C3A):c.895-351A>G	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230632	NM_001002010.5(NT5C3A):c.354+266A>G	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229434	NM_001002010.5(NT5C3A):c.894+141G>A	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229370	NM_001002010.5(NT5C3A):c.138+213G>A	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226780	NM_001002010.5(NT5C3A):c.895-267G>A	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225236	NC_000007.14:g.33063100G>C	NT5C3A	Single nucleotide variant	not provided	GBenign

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