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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPT1
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 1
+3 more
GConflicting classifications of pathogenicity
PPT1
(I302V +2 more)
Single nucleotide variant
(missense variant)
PPT1-related condition
+3 more
GConflicting classifications of pathogenicity
PPT1
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 1
+1 more
GConflicting classifications of pathogenicity
PPT1
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 1
+1 more
GPathogenic/Likely pathogenic
PPT1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
PPT1
(Y144H +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 1
+2 more
GPathogenic/Likely pathogenic
PPT1
(S241L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PPT1
(V226M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PPT1
(E184K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PPT1
(Q177E +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 1
+1 more
GPathogenic
PPT1
(H158Y +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 1
+1 more
GUncertain significance
PPT1
(R151* +1 more)
Single nucleotide variant
(nonsense)
PPT1-related condition
+5 more
GPathogenic/Likely pathogenic
PPT1
(G145S)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 1
+2 more
GUncertain significance
PPT1
(G145R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
PPT1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
PPT1
(N110S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
PPT1
(Q91E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PPT1
(L10*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
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