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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPP1
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 2
+3 more
GConflicting classifications of pathogenicity
TPP1
(R520S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
TPP1
(P499A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
TPP1
(R418W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TPP1
(N414I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TPP1
(R350Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(R339Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
Deletion
(intron variant)
not specified
GLikely benign
TPP1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TPP1
(R266W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
TPP1
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
TPP1
(N222S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(S181F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
TPP1
(R175C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TPP1
Single nucleotide variant
(splice acceptor variant)
TPP1-related condition
+5 more
GPathogenic
TPP1
Duplication
(intron variant)
Neuronal Ceroid-Lipofuscinosis, Recessive
+2 more
GBenign/Likely benign
TPP1
(Q100R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+5 more
GBenign/Likely benign
TPP1
(T98M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TPP1
(R40C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TPP1
(A5D)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TPP1
(L3I)
Single nucleotide variant
(missense variant)
Autosomal recessive spinocerebellar ataxia 7
+4 more
GConflicting classifications of pathogenicity
TPP1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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