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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTMR2
(S619P +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4B1
+4 more
GConflicting classifications of pathogenicity
MTMR2
(E502Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
MTMR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease type 4B1
+3 more
GBenign/Likely benign
MTMR2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease
+3 more
GBenign
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