ClinVar for MedGen (Select 868321) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599010	NM_000540.3(RYR1):c.1312G>C (p.Glu438Gln)	RYR1 (E438Q)	Single nucleotide variant (missense variant)	not provided +11 more	GUncertain significance
Select item 599009	NM_004667.6(HERC2):c.5045A>G (p.Asn1682Ser)	HERC2 (N1682S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GUncertain significance