"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC129930 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 460288	NM_001625.4(AK2):c.49C>G (p.Arg17Gly)	AK2, LOC129930068 (R17G)	Single nucleotide variant (missense variant +2 more)	AK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 737934	NM_001625.4(AK2):c.25G>A (p.Glu9Lys)	AK2, LOC129930068 (E9K)	Single nucleotide variant (missense variant +2 more)	AK2-related disorder +1 more	GLikely benign