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Links from MedGen

Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(Y225C)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(Y218*)
Single nucleotide variant
(nonsense +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(A117V)
Inversion
(missense variant +1 more)
Huntington disease-like 1
GPathogenic
PRNP
(L250P)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(Y163H)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
ADAM33, ADISSP
+60 more
Duplication
Pigmentary pallidal degeneration
+1 more
GUncertain significance
PRNP
(I182M)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(P239S)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(M134I)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(Q17*)
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(R151C)
Single nucleotide variant
(3 prime UTR variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(T188R)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GLikely pathogenic
PRNP
(R151H)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(R25H)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(T188M)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(Y149*)
Duplication
(nonsense +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Microsatellite
(inframe_insertion)
Huntington disease-like 1
GUncertain significance
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(A11T)
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GBenign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(Y169H)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(G93D)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Deletion
(inframe_deletion)
Huntington disease-like 1
GLikely benign
PRNP
(A46T)
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+5 more
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+1 more
GLikely benign
PRNP
(M129V)
Inversion
(missense variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(G10R)
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(R136T)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(R148H)
Single nucleotide variant
(missense variant +1 more)
Inherited Creutzfeldt-Jakob disease
+1 more
GLikely pathogenic
PRNP
(R136S)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(P165S)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Deletion
(inframe_deletion)
not specified
+1 more
GUncertain significance
PRNP
(G29E)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(V252A)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(M166I)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+5 more
GUncertain significance
PRNP
(E207G)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(R208C)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(V209M)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
(R151L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRNP
(Q212P)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+1 more
GConflicting classifications of pathogenicity
PRNP
(S97N)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+1 more
GUncertain significance
PRNP
(P39L)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+1 more
GConflicting classifications of pathogenicity
PRNP
(A2V)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+1 more
GConflicting classifications of pathogenicity
PRNP
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PRNP
(S17T)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+1 more
GUncertain significance
PRNP
Deletion
(inframe_deletion)
Huntington disease-like 1
GUncertain significance
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(E73K)
Single nucleotide variant
(synonymous variant +1 more)
Gerstmann-Straussler-Scheinker syndrome
+6 more
GBenign/Likely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(L234F)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
GLikely benign
PRNP
(M154I)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Deletion
(inframe_deletion)
not provided
+1 more
GBenign/Likely benign
PRNP
Single nucleotide variant
(3 prime UTR variant)
Huntington disease-like 1
+6 more
GUncertain significance
PRNP
(G142S)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+2 more
GBenign/Likely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+2 more
GBenign/Likely benign
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+2 more
GBenign
PRNP
(T53A)
Single nucleotide variant
(synonymous variant +1 more)
Inherited prion disease
+1 more
GBenign
PRNP
(S39P)
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+2 more
GBenign
PRNP
(G54S +1 more)
Single nucleotide variant
(missense variant)
Inherited prion disease
+1 more
GLikely benign
PRNP
(R24W)
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+6 more
GBenign/Likely benign
PRNP
(P47S)
Single nucleotide variant
(synonymous variant +1 more)
Inherited prion disease
+2 more
GBenign/Likely benign
PRNP
(E211D)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GUncertain significance
PRNP
Microsatellite
(inframe_deletion)
Huntington disease-like 1
+6 more
GLikely benign
PRNP
(D178N)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PRNP
(Q160*)
Single nucleotide variant
(nonsense +1 more)
Huntington disease-like 1
GPathogenic
PRNP
(R208H)
Single nucleotide variant
(missense variant +1 more)
PRNP-Related Disorders
+2 more
GPathogenic/Likely pathogenic
PRNP
(G131V)
Single nucleotide variant
(missense variant +1 more)
Gerstmann-Straussler-Scheinker syndrome
+1 more
GPathogenic/Likely pathogenic
PRNP
(E219K)
Single nucleotide variant
(missense variant +1 more)
Inherited prion disease
+2 more
GBenign
PRNP
(N171S)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
PRNP
(T183A)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GPathogenic
PRNP
(M232R)
Single nucleotide variant
(missense variant +1 more)
Fatal familial insomnia
+5 more
GUncertain significance
PRNP
(V180I)
Single nucleotide variant
(missense variant +1 more)
Fatal familial insomnia
+6 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
PRNP
(V210I)
Single nucleotide variant
(missense variant +1 more)
Spongiform encephalopathy with neuropsychiatric features
+5 more
GLikely pathogenic/Pathogenic, low penetrance
PRNP
(Q217R)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
GLikely pathogenic
PRNP
(F198S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
PRNP
(M129V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inherited Creutzfeldt-Jakob disease
+1 more
GPathogenic
PRNP
(E200K)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+1 more
GPathogenic
PRNP
(M129V)
Single nucleotide variant
(missense variant +1 more)
not provided
+7 more
GBenign/Likely benign
PRNP
(P102L)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
PRNP
Microsatellite
Inherited prion disease
+3 more
GPathogenic
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