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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SBF1
(Y1353C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GUncertain significance
SBF1
(D996G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SBF1
(V144E +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B3
GUncertain significance
SBF1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B3
+1 more
GConflicting classifications of pathogenicity
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