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Links from MedGen

Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(G140R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(R171H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
+1 more
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(P79S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(W75R)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(T245A +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(D159E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(P192S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(E160K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
REEP2-related disorder
+1 more
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
LOC129994740, REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(A229T +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Duplication
(inframe_insertion +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(G170S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(R206Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(E184K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(P170S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(I74M)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(A226V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GBenign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(E34K)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(R111G)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GBenign
REEP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(R173C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
+1 more
GUncertain significance
REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(T117I)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(A130T)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(T29fs)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(W42S)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
LOC129994740, REEP2
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
LOC129994740, REEP2
(M1V)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(R173* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 72
GLikely pathogenic
REEP2
(R111*)
Single nucleotide variant
(nonsense +1 more)
Hereditary spastic paraplegia 72
GLikely pathogenic
REEP2
(M40R)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GPathogenic
REEP2
(R173Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
+1 more
GUncertain significance
REEP2
(V44I)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(R160Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
Single nucleotide variant
(splice donor variant)
Hereditary spastic paraplegia 72
GLikely pathogenic
REEP2
Single nucleotide variant
(synonymous variant +1 more)
REEP2-related disorder
+1 more
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GBenign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GBenign
REEP2
Single nucleotide variant
(synonymous variant +1 more)
Hereditary spastic paraplegia 72
GLikely benign
REEP2
(P200L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
REEP2
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary spastic paraplegia 72
GBenign
REEP2
(G248R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GUncertain significance
REEP2
(V36E)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 72
GPathogenic
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