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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTN2
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
RTN2
(R333Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
RTN2
(R322S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RTN2
(L312fs +2 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
RTN2
(P315S)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
RTN2
(R78L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RTN2
(E50*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
RTN2
(L37R)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
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