C0270960[trait identifier] AND "CSER _CC_NCGL, University of Washingto - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 161362	NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)	RYR1 (G893S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 161367	NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)	RYR1 (R986C)	Single nucleotide variant (missense variant)	RYR1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 159865	NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)	RYR1 (I3253T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 161361	NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	RYR1 (Y3921* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 161366	NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)	RYR1 (E4502G +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 161378	NM_000540.3(RYR1):c.14468C>T (p.Thr4823Met)	RYR1 (T4823M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance