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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3TC2
Deletion
(nonsense)
Charcot-Marie-Tooth disease type 4C
GUncertain significance
SH3TC2
(L951fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 4C
GLikely pathogenic