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Links from MedGen

Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCG
(T571S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(G411A)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(P524R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(R634C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(H74Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GLikely pathogenic
PRKCG
(H36R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(S132P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(Q127H)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(Y108C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(A404T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(R140Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(Q127P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(Y436*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(E156K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKCG
(A461T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(F643C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(L120F)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(H116R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GUncertain significance
PRKCG
(D95E)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(H101R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(M256T)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(R76*)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 14
GLikely benign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
+1 more
GBenign/Likely benign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(P635L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GConflicting classifications of pathogenicity
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GLikely benign
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GLikely benign
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(E237D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely benign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(H174D)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(A461V)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GUncertain significance
PRKCG
(G123R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GConflicting classifications of pathogenicity
PRKCG
(C77Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GConflicting classifications of pathogenicity
PRKCG
(Q127K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
PRKCG
(P628L)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(V583M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKCG
(R239W)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
+1 more
GBenign/Likely benign
PRKCG
(C66Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
(G159R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GBenign
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GBenign
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GBenign
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
PRKCG
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 14
GLikely benign
PRKCG
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(V696I)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GUncertain significance
PRKCG
(S687G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
PRKCG-related disorder
+3 more
GBenign/Likely benign
PRKCG
(S577L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
+2 more
GBenign
PRKCG
(R238C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
+2 more
GBenign/Likely benign
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PRKCG
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 14
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
+2 more
GBenign/Likely benign
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PRKCG
Single nucleotide variant
(5 prime UTR variant)
Spinocerebellar ataxia type 14
GUncertain significance
PRKCG
(C52S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GLikely pathogenic
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
+2 more
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
+2 more
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
Spinocerebellar ataxia type 14
+1 more
GBenign
PRKCG
(R26G)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(H139Q)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(C150F)
Indel
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(V138E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRKCG
(C131Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(C131R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
Gnot provided
PRKCG
(G123E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(G123R)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(S119F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(C114Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
Deletion
(inframe_deletion)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(C77S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(V692G)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKCG
(G63V)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(R41P)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(G360S)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
(D480Y)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
GPathogenic
PRKCG
Deletion
Spinocerebellar ataxia type 14
GPathogenic
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