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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPP1
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 2
+4 more
GBenign/Likely benign
TPP1
(Q373E)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
+3 more
GBenign/Likely benign
TPP1
(R339Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
Deletion
(intron variant)
not provided
GBenign
TPP1
Deletion
(intron variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+1 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis
+5 more
GPathogenic
TPP1
(Q100R)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
TPP1
(T98M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 2
+3 more
GConflicting classifications of pathogenicity
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