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Links from MedGen

Items: 1 to 100 of 253

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN3
Copy number loss
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
(H30fs +2 more)
Deletion
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(V102fs +4 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(V116fs +4 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Single nucleotide variant
(intron variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(Y100* +3 more)
Single nucleotide variant
(nonsense +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Deletion
(intron variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(C253fs +4 more)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(E204* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Deletion
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(W183* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(L122fs +3 more)
Duplication
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Deletion
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Deletion
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(R103fs +4 more)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(S108fs +4 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
(L119fs +3 more)
Insertion
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
Deletion
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
(W106* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN3
(W42*)
Single nucleotide variant
(nonsense +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN3
(W160* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
+1 more
GPathogenic/Likely pathogenic
CLN3
(V274fs +4 more)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
+1 more
GPathogenic/Likely pathogenic
CLN3
(S7fs)
Deletion
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 3
+1 more
GPathogenic/Likely pathogenic
CLN3
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 3
+1 more
GPathogenic/Likely pathogenic
CLN3
(A19E +2 more)
Single nucleotide variant
(nonsense +2 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(Y122* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(W183fs +4 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(W246* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(Y184* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(Q104* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(V104fs +4 more)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
(V156M +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN3
(L114fs +4 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN3
(S117F +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN3
(N49K)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+1 more
GLikely benign
CLN3
(F307fs +4 more)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
CLN3
(L106H +3 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CLN3
(R103W +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN3
(L276fs +4 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(W221* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(L259fs +4 more)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
+1 more
GPathogenic/Likely pathogenic
CLN3
Single nucleotide variant
(intron variant +1 more)
Neuronal ceroid lipofuscinosis 3
+1 more
GPathogenic
CLN3
(A5T +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 3
+3 more
GConflicting classifications of pathogenicity
CLN3
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN3
Copy number loss
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
(G135W +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 3
GConflicting classifications of pathogenicity
CLN3
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
Single nucleotide variant
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
Single nucleotide variant
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
Single nucleotide variant
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN3
(V290I +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 3
GUncertain significance
CLN3
(S15W +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN3
(D284N +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN3
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CLN3
(Q251* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+2 more
GPathogenic/Likely pathogenic
CLN3
(V101G +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 3
+2 more
GUncertain significance
CLN3
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN3
(S161L +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CLN3
Copy number loss
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN3
Deletion
(splice acceptor variant +1 more)
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 3
+1 more
GPathogenic/Likely pathogenic
CLN3
Deletion
(splice acceptor variant +1 more)
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
(S401R +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN3
(P429S +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLN3
(I414V +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN3
(S215Y +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN3
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN3
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Duplication
(intron variant)
Neuronal ceroid lipofuscinosis 3
GLikely benign
CLN3
Single nucleotide variant
(splice acceptor variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Single nucleotide variant
(intron variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GConflicting classifications of pathogenicity
CLN3
Deletion
(splice donor variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN3
Single nucleotide variant
(intron variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Deletion
(intron variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(K66fs +1 more)
Duplication
(frameshift variant +1 more)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(Y372* +4 more)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(M1V)
Single nucleotide variant
(missense variant +2 more)
Neuronal ceroid lipofuscinosis
+2 more
GPathogenic/Likely pathogenic
CLN3
(V303fs +4 more)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 3
GLikely pathogenic
CLN3
(R250W +4 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 3
+1 more
GUncertain significance
CLN3
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
CLN3
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
CLN3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
CLN3
(V363M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CLN3
(E257D +4 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLN3
(S51F)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 3
+2 more
GUncertain significance
CLN3
(A113fs +4 more)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 3
+2 more
GPathogenic
CLN3
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 3
+2 more
GLikely benign
CLN3
(M1T)
Single nucleotide variant
(synonymous variant +2 more)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN3
(T80M +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 3
+2 more
GUncertain significance
CLN3
Deletion
(splice acceptor variant +1 more)
Neuronal ceroid lipofuscinosis 3
GPathogenic
CLN3
(I285V +4 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy
+2 more
GUncertain significance
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