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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PNPT1
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 13
GLikely pathogenic
PNPT1
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 13
GUncertain significance
PNPT1
(A510T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GUncertain significance
PNPT1
(R132*)
Single nucleotide variant
(nonsense)
Combined oxidative phosphorylation defect type 13
+1 more
GPathogenic/Likely pathogenic
PNPT1
(R136C)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GPathogenic
PNPT1
(P467H)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GLikely pathogenic
PNPT1
(Y527*)
Insertion
(nonsense)
Combined oxidative phosphorylation defect type 13
GPathogenic
PNPT1
Single nucleotide variant
(intron variant)
Combined oxidative phosphorylation defect type 13
GLikely pathogenic
PNPT1
Deletion
(intron variant)
Combined oxidative phosphorylation defect type 13
+2 more
GBenign/Likely benign
PNPT1
(D166N)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GUncertain significance
PNPT1
(P92A)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GUncertain significance
PNPT1
(D671V)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GUncertain significance
PNPT1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
PNPT1
(A559G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PNPT1
(V374A)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
+2 more
GUncertain significance
PNPT1
(R738H)
Single nucleotide variant
(missense variant)
PNPT1-related disorder
+3 more
GConflicting classifications of pathogenicity
PNPT1
(N540S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PNPT1
(P467S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PNPT1
Single nucleotide variant
(synonymous variant)
Combined oxidative phosphorylation defect type 13
+2 more
GPathogenic
PNPT1
(A176T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GLikely pathogenic
PNPT1
(I138V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PNPT1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PNPT1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PNPT1
(G499R)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GPathogenic
PNPT1
(D713Y)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GPathogenic
PNPT1
(S70P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GPathogenic
PNPT1
(R136H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PNPT1
(A454G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PNPT1
(A173T)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
+1 more
GConflicting classifications of pathogenicity
PNPT1
(Q254K)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GPathogenic
PNPT1
(A510P)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
+1 more
GPathogenic/Likely pathogenic
PNPT1
Single nucleotide variant
(splice acceptor variant)
Combined oxidative phosphorylation defect type 13
GPathogenic
PNPT1
(A507S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
PNPT1
(M485V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PNPT1
(E230Q)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
+3 more
GConflicting classifications of pathogenicity
PNPT1
(P165S)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
+2 more
GConflicting classifications of pathogenicity
PNPT1
Duplication
(3 prime UTR variant)
Combined oxidative phosphorylation defect type 13
+2 more
GBenign
PNPT1
(V509I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PNPT1
(T531R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PNPT1
(I121V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
PNPT1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
PNPT1
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
PNPT1
(Q387R)
Single nucleotide variant
(missense variant)
Combined oxidative phosphorylation defect type 13
GPathogenic
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