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Links from MedGen

Items: 1 to 100 of 135

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN8
(C203R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(A142fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis 8
GPathogenic
CLN8
(C149*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 8
GPathogenic
CLN8
(V261A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN8
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(W213fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 8
+1 more
GConflicting classifications of pathogenicity
CLN8
(H139R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
GUncertain significance
CLN8
(P171R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(N125I)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
+2 more
GUncertain significance
CLN8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
+2 more
GBenign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
(R70P)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
+1 more
GConflicting classifications of pathogenicity
CLN8
(A80T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(V261M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(K271R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
GUncertain significance
CLN8
(M211V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLN8
(F128L)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(S124Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(R54C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(I13V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(W195C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(V38F)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(D94N)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(M200fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN8
(D6Y)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(A239V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(D94H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(T108M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CLN8
(R97C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(M200V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(T111M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(T69M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(V175I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLN8
(I137M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(N101K)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+3 more
GLikely benign
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+2 more
GLikely benign
CLN8
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
+2 more
GBenign
CLN8
(R24C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(K95R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(V33A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant
+1 more
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
CLN8
(R54H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CLN8
(T111A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(G278R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(F39L)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(S47F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CLN8
(Q255*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN8
(L133*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN8
(R204H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
+1 more
GConflicting classifications of pathogenicity
CLN8
(T69fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(Y227*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 8
GUncertain significance
CLN8
(Q76*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN8
(W104*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 8
+1 more
GPathogenic/Likely pathogenic
CLN8
(D17fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(M1T)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(H199fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(K95*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CLN8
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 8
GUncertain significance
CLN8, CLN8-AS1
Deletion
(splice donor variant)
Neuronal ceroid lipofuscinosis 8
GUncertain significance
CLN8
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(W102*)
Single nucleotide variant
(nonsense)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(L233V)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CLN8
(M205T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CLN8
(M1V)
Single nucleotide variant
(missense variant +1 more)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic
CLN8
(E275Q)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(L241V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
GUncertain significance
CLN8
(L207V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLN8
(P89R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLN8
(A182V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(A266T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CLN8
(A30S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CLN8
(R282Q)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(R129Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLN8
(L133F)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(T26M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(L36F)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
+1 more
GUncertain significance
CLN8
(A96V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis
+1 more
GLikely pathogenic
CLN8
(L16fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(D88fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 8
+1 more
GPathogenic/Likely pathogenic
CLN8
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CLN8
(F32L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CLN8
(N264K +1 more)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
GLikely pathogenic
CLN8
(H157R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
+1 more
GConflicting classifications of pathogenicity
CLN8
(N259S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GConflicting classifications of pathogenicity
CLN8
(V136F)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+2 more
GUncertain significance
CLN8
(N125S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CLN8
(S20C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CLN8
(Y18F)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+3 more
GUncertain significance
CLN8
(D17G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CLN8
(D6G)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+4 more
GUncertain significance
CLN8
(D6H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(E269G)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis
+1 more
GUncertain significance
CLN8
(P260L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
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