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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRSAM1
(R400Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
+1 more
GConflicting classifications of pathogenicity
LRSAM1
(L679P +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance