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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBF1
(G1064E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
SBF1
(R763H +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GLikely pathogenic