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Links from MedGen

Items: 1 to 100 of 244

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNP
(A28V)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GLikely pathogenic
PNP
(R171fs)
Deletion
(frameshift variant)
Purine-nucleoside phosphorylase deficiency
GPathogenic
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(L175V)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(R67Q)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(splice donor variant)
Purine-nucleoside phosphorylase deficiency
GLikely pathogenic
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(D215fs)
Duplication
(frameshift variant)
Purine-nucleoside phosphorylase deficiency
GPathogenic
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Deletion
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Deletion
(intron variant)
Purine-nucleoside phosphorylase deficiency
GBenign
PNP
(G190V)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GLikely pathogenic
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(N243S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(S33P)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GLikely pathogenic
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP, RNASE12
+38 more
Deletion
Purine-nucleoside phosphorylase deficiency
GPathogenic
PNP
Deletion
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(splice acceptor variant)
Purine-nucleoside phosphorylase deficiency
GLikely pathogenic
PNP
(P99S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Deletion
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(I136fs)
Duplication
(frameshift variant)
Purine-nucleoside phosphorylase deficiency
GPathogenic
PNP
(R168W)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(N55S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(I129del)
Deletion
(inframe_deletion)
Purine-nucleoside phosphorylase deficiency
GLikely pathogenic
PNP
(T60I)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(D248G)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(N115S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(F124L)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(I246V)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(I129T)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(F155S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Deletion
(intron variant)
Purine-nucleoside phosphorylase deficiency
GBenign
PNP
(V27I)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(I29M)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(G190S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(E201*)
Single nucleotide variant
(nonsense)
Severe combined immunodeficiency disease
+1 more
GPathogenic/Likely pathogenic
PNP
(M81T)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(M279R)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
+1 more
GLikely benign
PNP
Deletion
(intron variant)
Purine-nucleoside phosphorylase deficiency
GBenign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GBenign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
+1 more
GConflicting classifications of pathogenicity
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(intron variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
Single nucleotide variant
(synonymous variant)
Purine-nucleoside phosphorylase deficiency
GLikely benign
PNP
(N151S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(D157N)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(G107S)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(H230N)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(N74K)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(M170V)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
PNP
(R158C)
Single nucleotide variant
(missense variant)
Purine-nucleoside phosphorylase deficiency
GUncertain significance
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