C5830701[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 544398	NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro)	RYR1 (L417P)	Single nucleotide variant (missense variant)	Myopathy, RYR1-associated +6 more	GConflicting classifications of pathogenicity
Select item 1705733	NM_000540.3(RYR1):c.2168-1G>A	RYR1	Single nucleotide variant (splice acceptor variant)	Central core myopathy	GLikely pathogenic
Select item 478300	NM_000540.3(RYR1):c.9457G>A (p.Gly3153Arg)	RYR1 (G3153R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 329090	NM_000540.3(RYR1):c.9635A>G (p.Glu3212Gly)	RYR1 (E3212G)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 1047755	NM_000540.3(RYR1):c.13927G>A (p.Ala4643Thr)	RYR1 (A4643T +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 1498872	NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)	RYR1 (F4803Y +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GLikely pathogenic
Select item 478201	NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter)	RYR1 (R4945* +1 more)	Single nucleotide variant (nonsense)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity

ClinVar