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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN5, LOC130009913
(R15fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5, LOC130009913
(W26fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(M133R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
+1 more
GUncertain significance
CLN5
(F276L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(C144fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
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