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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GH-LCR, GH1
Deletion
(inframe_deletion)
Ateleiotic dwarfism
GUncertain significance
GH-LCR, SCN4A
(G723V)
Single nucleotide variant
(missense variant)
Paramyotonia congenita of Von Eulenburg
GUncertain significance