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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRNP
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+5 more
GLikely benign
PRNP
(R148H)
Single nucleotide variant
(missense variant +1 more)
Inherited Creutzfeldt-Jakob disease
+1 more
GLikely pathogenic
PRNP
(M166I)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+5 more
GUncertain significance
PRNP
(E73K)
Single nucleotide variant
(synonymous variant +1 more)
Gerstmann-Straussler-Scheinker syndrome
+6 more
GBenign/Likely benign
PRNP
Single nucleotide variant
(3 prime UTR variant)
Kuru, susceptibility to
+6 more
GUncertain significance
PRNP
(R24W)
Single nucleotide variant
(synonymous variant +1 more)
Huntington disease-like 1
+6 more
GBenign/Likely benign
PRNP
(E211Q)
Single nucleotide variant
(missense variant +1 more)
Inherited Creutzfeldt-Jakob disease
GPathogenic
PRNP
Microsatellite
(inframe_deletion)
Fatal familial insomnia
+6 more
GLikely benign
PRNP
(R208H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PRNP
(M232R)
Single nucleotide variant
(missense variant +1 more)
Spongiform encephalopathy with neuropsychiatric features
+5 more
GUncertain significance
PRNP
(V180I)
Single nucleotide variant
(missense variant +1 more)
Spongiform encephalopathy with neuropsychiatric features
+6 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
PRNP
(V210I)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+6 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
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)
not provided
+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)
Spongiform encephalopathy with neuropsychiatric features
+3 more
GPathogenic
PRNP
Microsatellite
Huntington disease-like 1
+3 more
GPathogenic
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