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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRNP
(P26L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRNP
Microsatellite
(inframe insertion)
not provided
GUncertain significance
PRNP
(G64S +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PRNP
(D178N)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
PRNP
(E200K)
Single nucleotide variant
(missense variant +1 more)
Huntington disease-like 1
+1 more
GPathogenic
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