U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP1
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
REEP1
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
REEP1
(P122fs +5 more)
Insertion
(frameshift variant)
not provided
GUncertain significance
REEP1
(G174A +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 31
+2 more
GUncertain significance
REEP1
(P140S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
REEP1
(F124fs +3 more)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
REEP1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
REEP1
Single nucleotide variant
(synonymous variant +1 more)
Neuronopathy, distal hereditary motor, type 5B
+4 more
GBenign
REEP1
(F27fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
REEP1
(A46T +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
REEP1
(M39R +2 more)
Single nucleotide variant
(missense variant)
Hereditary spastic paraplegia 31
+1 more
GUncertain significance
REEP1
Single nucleotide variant
(intron variant)
Hereditary spastic paraplegia 31
+1 more
GConflicting classifications of pathogenicity
REEP1
(A20E +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 31
+2 more
GPathogenic/Likely pathogenic
REEP1
Microsatellite
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
Format
Items per page
Sort by
Choose Destination