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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HK1
(L18P +1 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease type 4G
+4 more
GLikely benign
HK1
(G285S +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
HK1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
HK1
(T445M +6 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
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