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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCG
(R26G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(R41P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(G63V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(C66Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(R76*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(C77S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(D95E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
Deletion
(inframe_deletion)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(H101Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRKCG
(H101R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(H101Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(C114Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(G118D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PRKCG
(S119P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(S119F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(G123R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(G123E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(Q127R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRKCG
(G128D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(C131R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(C131Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(V138E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRKCG
(H139Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(C150F)
Indel
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(M256T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(G360S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(S361G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(F643L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(V692G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PRKCG
Deletion
(stop lost +2 more)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
Deletion
Spinocerebellar ataxia type 14
GPathogenic
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