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Links from MedGen

Items: 92

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+1 more
GLikely benign
CTSD
(L11fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 10
GPathogenic
CTSD
Deletion
(intron variant)
not provided
+1 more
GBenign
CTSD
(P17S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
(E408K)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+1 more
GUncertain significance
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
+1 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
+1 more
GConflicting classifications of pathogenicity
CTSD
(K345R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+1 more
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
(R411H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CTSD
(A239V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CTSD
(T395A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+1 more
GUncertain significance
CTSD
(T189I)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+1 more
GUncertain significance
CTSD
(V95I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CTSD
(H273Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CTSD
(F229del)
Microsatellite
(inframe_deletion)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CTSD, LOC130005119
Single nucleotide variant
(5 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GLikely benign
CTSD, LOC130005119
Single nucleotide variant
(5 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD, LOC130005119
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CTSD, LOC130005119
Single nucleotide variant
(5 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD, PRADX
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+3 more
GConflicting classifications of pathogenicity
CTSD, PRADX
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CTSD
(Q220P)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
(Q220H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
(A314T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
(G316R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 10
+1 more
GConflicting classifications of pathogenicity
CTSD
(G362R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+3 more
GBenign/Likely benign
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GLikely benign
CTSD
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GBenign
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 10
GUncertain significance
CTSD
(V388I)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CTSD
(A337T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
CTSD
(R399H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CTSD
(G149V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
GPathogenic
CTSD
(R309H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+3 more
GConflicting classifications of pathogenicity
CTSD, LOC130005119
(P3L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CTSD
(M373I)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CTSD
(E310K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
+3 more
GBenign/Likely benign
CTSD, LOC130005119
(S5T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+2 more
GUncertain significance
CTSD, PRADX
(V52I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CTSD, LOC130005119
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
CTSD
Single nucleotide variant
(synonymous variant)
CTSD-related condition
+4 more
GConflicting classifications of pathogenicity
PRADX, CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
+3 more
GBenign/Likely benign
CTSD
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GBenign
CTSD
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
CTSD
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+2 more
GBenign/Likely benign
CTSD
(G282R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+4 more
GBenign/Likely benign
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
+4 more
GBenign
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
+4 more
GBenign
CTSD, PRADX
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
CTSD, PRADX
(A58V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
+4 more
GBenign/Likely benign
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 10
+4 more
GBenign
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+3 more
GBenign/Likely benign
CTSD
Single nucleotide variant
Neuronal ceroid lipofuscinosis 10
GPathogenic
CTSD
(S157L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CTSD
(Y255*)
Duplication
(nonsense)
Neuronal ceroid lipofuscinosis 10
GPathogenic
CTSD
(W383C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
GPathogenic
CTSD
(F229I)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 10
GPathogenic
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