C0017926[trait identifier] AND "Counsyl"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 554445	NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	PFKM (R376Q +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GConflicting classifications of pathogenicity
Select item 255756	NM_000289.6(PFKM):c.2087G>A (p.Arg696His)	PFKM (R696H +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +2 more	GBenign/Likely benign