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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRX
(K1062N)
Single nucleotide variant
(3 prime UTR variant +1 more)
Charcot-Marie-Tooth disease type 4F
+5 more
GConflicting classifications of pathogenicity
CACNA1S
(R1239H)
Single nucleotide variant
(missense variant)
Hypokalemic periodic paralysis, type 1
+3 more
GConflicting classifications of pathogenicity