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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DYNC1H1, LOC126862060
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2O
+6 more
GBenign
DYNC1H1, LOC126862060
(E3048K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2O
+1 more
GConflicting classifications of pathogenicity