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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KPNA3
(M372I)
Single nucleotide variant
(missense variant)
Spastic paraplegia 88, autosomal dominant
GUncertain significance
KPNA3
Single nucleotide variant
(missense variant)
Spastic paraplegia 88, autosomal dominant
GPathogenic
KPNA3
(L328P)
Single nucleotide variant
(missense variant)
Spastic paraplegia 88, autosomal dominant
GPathogenic
KPNA3
(L350P)
Single nucleotide variant
(missense variant)
Spastic paraplegia 88, autosomal dominant
GPathogenic
KPNA3
(T315I)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KPNA3
(L334R)
Single nucleotide variant
(missense variant)
Spastic paraplegia 88, autosomal dominant
GPathogenic
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