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Links from MedGen

Items: 1 to 100 of 210

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN5
(W102* +1 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5, LOC130009913
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 5
+1 more
GLikely pathogenic
CLN5
(L323fs)
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(C144fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic/Likely pathogenic
CLN5, LOC130009913
(S42fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5, LOC130009913
(E12* +1 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(E134* +1 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(W158fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(M116fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(Y209* +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(N240*)
Duplication
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(G121R +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(W175* +1 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(Y209C +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(H117P +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5, LOC130009913
(W26fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(T124S +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(G24R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(V214fs)
Insertion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GPathogenic
CLN5, LOC130009913
(R15fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(L113* +1 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(T145K +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(C159R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CLN5
(Y329*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN5
(M1I)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN5
(R96Q)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN5
(F327fs)
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
Deletion
(nonsense)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic/Likely pathogenic
CLN5
(Q194*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic
CLN5
(N271fs)
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic
CLN5
(W330*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic
CLN5
(N255T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
CLN5, LOC130009913
(L30P)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5, LOC130009913
(W26S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLN5
Single nucleotide variant
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
(G280*)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN5, LOC130009913
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CLN5, LOC130009913
(V38fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic
CLN5
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 5
+1 more
GConflicting classifications of pathogenicity
CLN5
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(I288M)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(L269R)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(R258I)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GBenign
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(M191T)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN5, LOC130009913
(S45P)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
+1 more
GLikely benign
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(5 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(3 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5, LOC130009913
(W28*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic
CLN5
(Y322fs)
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic
CLN5
Single nucleotide variant
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN5
Deletion
Neuronal ceroid lipofuscinosis
+3 more
GConflicting classifications of pathogenicity
CLN5
Single nucleotide variant
Neuronal ceroid lipofuscinosis
GLikely benign
CLN5
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CLN5
(I350V)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
+3 more
GUncertain significance
CLN5
(C144R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN5
(R59H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN5
(C70R)
Single nucleotide variant
(missense variant)
Pontocerebellar hypoplasia type 2D
+1 more
GConflicting classifications of pathogenicity
CLN5
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(M133R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN5
(C144Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GPathogenic
CLN5
(F312S)
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+3 more
GUncertain significance
CLN5
Single nucleotide variant
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN5
Single nucleotide variant
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN5
(A164S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN5
(W225fs)
Duplication
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(P64fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN5
(L236fs)
Microsatellite
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic/Likely pathogenic
CLN5
(H148fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN5
(R351fs)
Duplication
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(E303fs)
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5, LOC130009913
(G40fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5, LOC130009913
Duplication
(inframe_insertion)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(G280fs)
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
+1 more
GPathogenic/Likely pathogenic
CLN5
Duplication
(splice donor variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
+2 more
GConflicting classifications of pathogenicity
CLN5
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
Deletion
(inframe_deletion)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5, LOC130009913
(W26*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 5
GPathogenic
CLN5
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(L332fs)
Deletion
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(T238fs)
Deletion
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN5
(P347fs)
Duplication
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
Single nucleotide variant
(5 prime UTR variant)
Neuronal ceroid lipofuscinosis 5
GUncertain significance
CLN5
(D6fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 5
GLikely pathogenic
CLN5
(S307N)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CLN5
(R63fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN5
(W225*)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
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