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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN5
Single nucleotide variant
CLN5-related condition
+4 more
GConflicting classifications of pathogenicity
CLN5
Single nucleotide variant
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
+5 more
GBenign
CLN5
Single nucleotide variant
not provided
+1 more
GUncertain significance
CLN5
Single nucleotide variant
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
+5 more
GConflicting classifications of pathogenicity
CLN5
Single nucleotide variant
CLN5-related condition
+5 more
GBenign/Likely benign
CLN5
Single nucleotide variant
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
+5 more
GBenign/Likely benign
CLN5
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CLN5
(A2V)
Single nucleotide variant
(missense variant)
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
+4 more
GConflicting classifications of pathogenicity
CLN5, LOC130009913
(W26R)
Single nucleotide variant
(missense variant)
CLN5-related condition
+5 more
GConflicting classifications of pathogenicity
CLN5, LOC130009913
Single nucleotide variant
(synonymous variant)
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
+4 more
GBenign/Likely benign
CLN5, LOC130009913
(A36P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CLN5, LOC130009913
(R51H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CLN5, LOC130009913
Single nucleotide variant
(intron variant)
Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive
+3 more
GBenign
CLN5, LOC130009913
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CLN5
(D89N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CLN5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN5
(F139L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLN5
(M153I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CLN5
(N193K)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CLN5
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CLN5
(T254I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CLN5
(N255K)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CLN5
(I259L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CLN5
(G270fs)
Deletion
(3 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
CLN5
(L309fs)
Microsatellite
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+2 more
GPathogenic
CLN5
(K319R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+5 more
GBenign/Likely benign
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