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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRNP
Microsatellite
Inherited prion disease
+3 more
GPathogenic
PRNP
Microsatellite
(inframe_deletion)
Inherited Creutzfeldt-Jakob disease
+6 more
GLikely benign
PRNP
(P102L)
Single nucleotide variant
(missense variant +1 more)
Spongiform encephalopathy with neuropsychiatric features
+3 more
GPathogenic
PRNP
(V180I)
Single nucleotide variant
(missense variant +1 more)
Spongiform encephalopathy with neuropsychiatric features
+6 more
GPathogenic/Likely pathogenic/Pathogenic, low penetrance
PRNP
(E200K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
PRNP
(V210I)
Single nucleotide variant
(missense variant +1 more)
Spongiform encephalopathy with neuropsychiatric features
+5 more
GLikely pathogenic/Pathogenic, low penetrance
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