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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HARS1
(Y454S +6 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
HARS1
(R137Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant Charcot-Marie-Tooth disease type 2W
+3 more
GUncertain significance