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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTN2
(A471T +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
RTN2
(R107Q +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
RTN2
(R325G +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(G309fs)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 12
GLikely pathogenic
RTN2
(L283F)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(E50*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
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