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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP1
(R149W +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary spastic paraplegia 31
+1 more
GUncertain significance
REEP1
(D62Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Spastic paraplegia
GUncertain significance
REEP1
Single nucleotide variant
(splice acceptor variant +1 more)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
(E100fs +2 more)
Microsatellite
(frameshift variant +1 more)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
(L60R +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
(S57fs +2 more)
Deletion
(frameshift variant +1 more)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
(D29H +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
(T22P +2 more)
Single nucleotide variant
(missense variant)
Spastic paraplegia
GUncertain significance
REEP1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 31
+1 more
GConflicting classifications of pathogenicity
REEP1
Insertion
(intron variant)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
(A26fs +1 more)
Duplication
(frameshift variant +1 more)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
(P19L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 31
GPathogenic
REEP1
Deletion
Hereditary spastic paraplegia 31
GPathogenic
REEP1
Deletion
Hereditary spastic paraplegia 31
GPathogenic
REEP1
Deletion
Hereditary spastic paraplegia 31
GPathogenic
REEP1
Duplication
Hereditary spastic paraplegia 31
GUncertain significance
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