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Links from MedGen

Items: 1 to 100 of 3469

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5, LOC130009913
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD, PRADX
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
DNAJC5
(R36Q)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD, PRADX
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5, LOC130009913
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
(T3I)
Single nucleotide variant
(synonymous variant +2 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD, PRADX
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
(Q153*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
GPathogenic
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
DNAJC5
(Q160R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
(Q229E +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis
GLikely pathogenic
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
DNAJC5
(G196E)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
DNAJC5
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
DNAJC5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD, PRADX
Single nucleotide variant
(non-coding transcript variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
(Y174fs +1 more)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis
GPathogenic
CLN6
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN6
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CTSD
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
(A247T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
GUncertain significance
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