C0751951[trait identifier] AND "Genetics and Molecular Pathology, SA P - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12988	NM_000540.3(RYR1):c.325C>T (p.Arg109Trp)	RYR1 (R109W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
Select item 159840	NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)	RYR1 (D708N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 161369	NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp)	RYR1 (N759D)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	Hydrops fetalis +8 more	GConflicting classifications of pathogenicity
Select item 12970	NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)	RYR1 (G2434R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 590403	NM_000540.3(RYR1):c.12443A>C (p.Asn4148Thr)	RYR1 (N4148T +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance

ClinVar