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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTMR2
(Y507fs +1 more)
Indel
(frameshift variant)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(Q482* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
MTMR2
(Q426* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4
GPathogenic
MTMR2
(E276* +1 more)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 4B1
GPathogenic
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