Related gene-specific medical variations for Gene (Select 51251) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 687354	GRCh37/hg19 7p14.3(chr7:33074784-33084764)x1	NT5C3A	Copy number loss	not provided	GPathogenic