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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRSAM1
(A95V)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GConflicting classifications of pathogenicity
LRSAM1
(R173*)
Single nucleotide variant
(nonsense +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
LRSAM1
(D255V)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(R427* +1 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GPathogenic/Likely pathogenic
LRSAM1
(Y520* +2 more)
Single nucleotide variant
(nonsense +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
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