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Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRKCG
(G3D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(G23E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(A24P)
Indel
(missense variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PRKCG
(F48S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
Deletion
(inframe_deletion)
not provided
GUncertain significance
PRKCG
(H74R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(C77R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(C77Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKCG
(C85F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PRKCG
(S119F)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
Duplication
(inframe_insertion)
not provided
GUncertain significance
PRKCG
(L121P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(G123R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKCG
(Q127R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
PRKCG
(G128R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRKCG
(C131Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PRKCG
(C134F)
Indel
(missense variant)
not provided
GLikely pathogenic
PRKCG
(V138M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCG
(V138E)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PRKCG
(H139N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCG
(C142Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(C150R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(E156K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRKCG
(G159R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRKCG
(G159E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(R160L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRKCG
(I165M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PRKCG
Single nucleotide variant
(intron variant)
not provided
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
PRKCG
(R205W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(R213Q)
Single nucleotide variant
(missense variant)
not provided
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
PRKCG-related condition
+2 more
GBenign/Likely benign
PRKCG
(V236A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(R238H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
PRKCG
(R249W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCG
(V271M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(P289Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(P289L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(D294V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(P325L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(S352N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(S361R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCG
(S361G)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
PRKCG
(V398L)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PRKCG
(E399Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(G409R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PRKCG
(G450D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
PRKCG
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PRKCG
(T510K)
Single nucleotide variant
(missense variant)
Autosomal dominant cerebellar ataxia
+2 more
GConflicting classifications of pathogenicity
PRKCG
(T518I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(D556E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PRKCG
(E569G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PRKCG
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PRKCG
(R580W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
PRKCG
(V583M)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 14
+1 more
GConflicting classifications of pathogenicity
PRKCG
Single nucleotide variant
(splice donor variant)
not provided
GConflicting classifications of pathogenicity
PRKCG
Single nucleotide variant
(splice donor variant)
not provided
GConflicting classifications of pathogenicity
PRKCG
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
PRKCG
(R624Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRKCG
Single nucleotide variant
(synonymous variant)
PRKCG-related condition
+1 more
GLikely benign
PRKCG
(L662P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRKCG
(D669fs)
Deletion
(frameshift variant)
not provided
+1 more
GUncertain significance
PRKCG
(V692G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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