NT5C3A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	ABCB5, ACTB +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 57469	GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	ADCYAP1R1, AQP1 +85 more	Copy number gain	See cases	GPathogenic
Select item 152941	GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	LOC110120652, LOC123956128 +54 more	Copy number loss	See cases	GLikely pathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 1178214	NM_001002010.5(NT5C3A):c.*230T>C	NT5C3A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1249936	NM_001002010.5(NT5C3A):c.*227del	NT5C3A	Deletion (3 prime UTR 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 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 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 2290736	NM_001002010.5(NT5C3A):c.971A>G (p.Asn324Ser)	NT5C3A (N278S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 2515370	NM_001002010.5(NT5C3A):c.896T>C (p.Val299Ala)	NT5C3A (V232A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 810083	NM_001002010.5(NT5C3A):c.895-2A>G	NT5C3A	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 1163865	NM_001002010.5(NT5C3A):c.895-3del	NT5C3A	Deletion (intron variant)	not provided	GUncertain significance
Select item 1226780	NM_001002010.5(NT5C3A):c.895-267G>A	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 1229434	NM_001002010.5(NT5C3A):c.894+141G>A	NT5C3A	Single nucleotide variant (intron 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 2961576	NM_001002010.5(NT5C3A):c.894+8T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 780675	NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=)	NT5C3A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 4482	NM_001002010.5(NT5C3A):c.844_845dup (p.Val283fs)	NT5C3A (V237fs +4 more)	Duplication (frameshift variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
Select item 2527115	NM_001002010.5(NT5C3A):c.835A>G (p.Met279Val)	NT5C3A (M212V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 4488	NM_001002010.5(NT5C3A):c.823G>C (p.Gly275Arg)	NT5C3A (G241R +4 more)	Single nucleotide variant (missense variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
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 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 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 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 4485	NM_001002010.5(NT5C3A):c.694-1G>C	NT5C3A	Single nucleotide variant (splice acceptor variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
Select item 4481	NM_001002010.5(NT5C3A):c.694-1G>T	NT5C3A	Single nucleotide variant (splice acceptor variant +1 more)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
Select item 2827284	NM_001002010.5(NT5C3A):c.694-4A>G	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 1950948	NM_001002010.5(NT5C3A):c.694-17del	NT5C3A	Deletion (intron 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 1276854	NM_001002010.5(NT5C3A):c.693+256del	NT5C3A	Deletion (intron variant)	not provided	GBenign
Select item 1179599	NM_001002010.5(NT5C3A):c.693+131C>T	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1634271	NM_001002010.5(NT5C3A):c.693+17G>A	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911948	NM_001002010.5(NT5C3A):c.693+16C>T	NT5C3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2683351	NM_001002010.5(NT5C3A):c.693+1G>A	NT5C3A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 811287	NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val)	NT5C3A (D162V +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GUncertain significance
Select item 4487	NM_001002010.5(NT5C3A):c.679del (p.Asp227fs)	NT5C3A (D193fs +4 more)	Deletion (frameshift variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
Select item 4486	NM_001002010.5(NT5C3A):c.671A>G (p.Asn224Ser)	NT5C3A (N190S +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
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 2097382	NM_001002010.5(NT5C3A):c.669C>A (p.Ser223=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2216502	NM_001002010.5(NT5C3A):c.653A>G (p.Asn218Ser)	NT5C3A (N151S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4483	NM_001002010.5(NT5C3A):c.645T>G (p.Tyr215Ter)	NT5C3A (Y181* +4 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
Select item 4480	NM_001002010.5(NT5C3A):c.631C>T (p.Gln211Ter)	NT5C3A (Q177* +4 more)	Single nucleotide variant (nonsense)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
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 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 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 2276185	NM_001002010.5(NT5C3A):c.592T>G (p.Ser198Ala)	NT5C3A (S131A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1943149	NM_001002010.5(NT5C3A):c.582G>A (p.Val194=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1967665	NM_001002010.5(NT5C3A):c.579del (p.Val194fs)	NT5C3A (V127fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 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 932629	NM_001002010.5(NT5C3A):c.530AAG[1] (p.Glu178del)	NT5C3A (E111del +4 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1297958	NM_001002010.5(NT5C3A):c.531-295T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
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 2854800	NM_001002010.5(NT5C3A):c.499_502del (p.Glu167fs)	NT5C3A (E100fs +4 more)	Deletion (frameshift variant)	not provided	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 4484	NM_001002010.5(NT5C3A):c.486dup (p.Ala163fs)	NT5C3A (A163fs +4 more)	Duplication (frameshift variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	GPathogenic
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 2317712	NM_001002010.5(NT5C3A):c.452C>T (p.Ser151Leu)	NT5C3A (S151L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1269506	NM_001002010.5(NT5C3A):c.441-71T>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 1244090	NM_001002010.5(NT5C3A):c.440+129T>G	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811542	NM_001002010.5(NT5C3A):c.440+9A>G	NT5C3A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 785212	NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 811355	NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala)	NT5C3A (T102A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 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 4479	NM_001002010.5(NT5C3A):c.395A>T (p.Asp132Val)	NT5C3A (D98V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2593158	NM_001002010.5(NT5C3A):c.385A>G (p.Ile129Val)	NT5C3A (I129V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293306	NM_001002010.5(NT5C3A):c.382G>A (p.Ala128Thr)	NT5C3A (A61T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1561525	NM_001002010.5(NT5C3A):c.381C>T (p.Tyr127=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 440011	NM_001002010.5(NT5C3A):c.378T>C (p.Tyr126=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 1296003	NM_001002010.5(NT5C3A):c.355-266A>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 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 1330602	NM_001002010.5(NT5C3A):c.354+6C>A	NT5C3A	Single nucleotide variant (intron variant)	NT5C3A-related condition +1 more	GLikely benign
Select item 2272324	NM_001002010.5(NT5C3A):c.350A>T (p.Lys117Ile)	NT5C3A (K84I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 618762	NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln)	NT5C3A (K75Q +4 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency +1 more	GUncertain significance
Select item 1632273	NM_001002010.5(NT5C3A):c.324T>C (p.Cys108=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1295975	NM_001002010.5(NT5C3A):c.307+159T>C	NT5C3A	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2127937	NM_001002010.5(NT5C3A):c.267T>C (p.Ser89=)	NT5C3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2560547	NM_001002010.5(NT5C3A):c.257T>C (p.Met86Thr)	NT5C3A (M53T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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