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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SH3TC2
(R1171H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4
+3 more
GUncertain significance
SH3TC2
(R954*)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic