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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RTN2
(Y66*)
Single nucleotide variant
(nonsense)
Hereditary spastic paraplegia 12
GLikely pathogenic
RTN2
(R325G +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(L283F)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(G309fs)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 12
GLikely pathogenic
RTN2
(G71V)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(R107Q +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+1 more
GUncertain significance
LOC130064702, RTN2
Microsatellite
(5 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
RTN2
(E50*)
Single nucleotide variant
(nonsense)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
RTN2
(P315T)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(G57fs)
Deletion
(frameshift variant)
Spastic paraplegia
+1 more
GPathogenic/Likely pathogenic
RTN2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(L321R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RTN2
Single nucleotide variant
(synonymous variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(R107W +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(I401T +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(A536V +2 more)
Single nucleotide variant
(missense variant)
RTN2-related disorder
+2 more
GLikely benign
RTN2
(S540P +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+2 more
GUncertain significance
RTN2
(A471T +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
RTN2
Deletion
(intron variant)
Hereditary spastic paraplegia 12
GLikely pathogenic
RTN2
(T314fs)
Duplication
(frameshift variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
RTN2
(T314fs)
Deletion
(frameshift variant +1 more)
Spastic paraplegia
+1 more
GConflicting classifications of pathogenicity
RTN2
(S329N)
Single nucleotide variant
(missense variant +2 more)
Spastic paraplegia
+3 more
GConflicting classifications of pathogenicity
RTN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 12
GLikely benign
RTN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
Single nucleotide variant
(3 prime UTR variant)
Hereditary spastic paraplegia 12
GUncertain significance
RTN2
(S367F +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
RTN2
Deletion
Hereditary spastic paraplegia 12
GPathogenic
RTN2
(R60fs)
Duplication
(frameshift variant)
Hereditary spastic paraplegia 12
GPathogenic
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