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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HK1
(S433L +6 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
HK1
(T445M +6 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 4G
+5 more
GConflicting classifications of pathogenicity