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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP1
(E141K +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Hereditary spastic paraplegia 31
+2 more
GConflicting classifications of pathogenicity
REEP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
+6 more
GConflicting classifications of pathogenicity
REEP1
(E100K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary spastic paraplegia 31
+1 more
GUncertain significance
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