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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CADM3, CADM3-AS1
(Y308C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease, axonal, type 2FF
GUncertain significance
CADM3
Deletion
(splice acceptor variant)
Charcot-Marie-Tooth disease, axonal, type 2FF
GUncertain significance
CADM3, CADM3-AS1
(G288C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease, axonal, type 2FF
GUncertain significance
CADM3
(Y172C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, type 2FF
GLikely pathogenic
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