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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NT5C3A
(V237fs +4 more)
Duplication
(frameshift variant +1 more)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
(G241R +4 more)
Single nucleotide variant
(missense variant +1 more)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
Single nucleotide variant
(splice acceptor variant +1 more)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
Single nucleotide variant
(splice acceptor variant +1 more)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
(D193fs +4 more)
Deletion
(frameshift variant)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
(N190S +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
(Y181* +4 more)
Single nucleotide variant
(nonsense)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
(Q177* +4 more)
Single nucleotide variant
(nonsense)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
(A163fs +4 more)
Duplication
(frameshift variant)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
GPathogenic
NT5C3A
(D98V +4 more)
Single nucleotide variant
(missense variant)
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
+1 more
GPathogenic/Likely pathogenic
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