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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPS1
(E43D)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease X-linked recessive 5
GPathogenic
PRPS1
(M115T)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth Neuropathy X
GLikely pathogenic
PRPS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+6 more
GBenign/Likely benign
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