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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
REEP1
Single nucleotide variant
(3 prime UTR variant +1 more)
Neuronopathy, distal hereditary motor, type 5B
+5 more
GConflicting classifications of pathogenicity
REEP1
(Q216P +1 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 5B
GUncertain significance
REEP1
(K69T +2 more)
Single nucleotide variant
(missense variant +1 more)
Neuronopathy, distal hereditary motor, type 5B
GUncertain significance
REEP1
(F27V +2 more)
Single nucleotide variant
(missense variant)
Neuronopathy, distal hereditary motor, type 5B
GUncertain significance
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