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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CLN8
(A4V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CLN8
(L16M)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 8
+4 more
GUncertain significance
CLN8
(L16R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CLN8
(F32V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CLN8
(A51T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLN8
(A67V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CLN8
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CLN8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CLN8
(H92Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CLN8
(R97H)
Single nucleotide variant
(missense variant)
CLN8-related condition
+4 more
GBenign/Likely benign
CLN8
(N125S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
CLN8
(R129W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CLN8
Single nucleotide variant
(synonymous variant)
CLN8-related condition
+3 more
GConflicting classifications of pathogenicity
CLN8
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis
+4 more
GConflicting classifications of pathogenicity
CLN8
(S176F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CLN8
(M205T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
CLN8
(G221S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CLN8
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign
CLN8
(E269V)
Single nucleotide variant
(missense variant)
CLN8-related condition
+7 more
GConflicting classifications of pathogenicity
CLN8
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CLN8
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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