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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CTSD
(V388I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CTSD
(D387N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTSD
(A337T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+3 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(synonymous variant)
CTSD-related condition
+5 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign
CTSD
(G282R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
CTSD
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CTSD
(A116T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CTSD, PRADX
(A58V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
CTSD, PRADX
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRADX, CTSD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CTSD, LOC130005119
(P3L)
Single nucleotide variant
(missense variant)
CTSD-related condition
+4 more
GConflicting classifications of pathogenicity
CTSD, LOC130005119
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
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