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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN5, LOC130009913
(W26R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+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)
Neuronal ceroid lipofuscinosis
+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
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