"Institute of Human Genetics, University of Wuerzburg"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 689565	NM_000540.3(RYR1):c.396C>T (p.Phe132=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +1 more	GLikely benign
Select item 291315	NM_000540.3(RYR1):c.1597C>A (p.Arg533Ser)	RYR1 (R533S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 427768	NM_000540.3(RYR1):c.4160+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GLikely pathogenic
Select item 992818	NM_000540.3(RYR1):c.10520C>T (p.Thr3507Met)	RYR1 (T3502M +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 3340139	NM_000540.3(RYR1):c.11531A>T (p.Asn3844Ile)	RYR1 (N3839I +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2687747	NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)	RYR1 (H4808R +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 291314	NM_000540.3(RYR1):c.15088C>T (p.Arg5030Cys)	RYR1 (R5030C +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 2497680	NC_000019.10:g.38455669G>A	RYR1	Single nucleotide variant	Malignant hyperthermia of anesthesia	GUncertain significance

ClinVar