excess mortality rate - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135406	NM_000551.4(VHL):c.3G>A (p.Met1Ile)	VHL (M1I)	Single nucleotide variant (missense variant +1 more)	Von Hippel-Lindau syndrome +6 more	GConflicting classifications of pathogenicity
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Hemochromatosis type 1 +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 808527	NM_000540.3(RYR1):c.251C>T (p.Thr84Met)	RYR1 (T84M)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133101	NM_000540.3(RYR1):c.1589G>A (p.Arg530His)	RYR1 (R530H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 813941	NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp)	RYR1 (R682W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 65980	NM_000540.3(RYR1):c.7361G>A (p.Arg2454His)	RYR1 (R2454H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 159864	NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)	RYR1 (C3193W)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GConflicting classifications of pathogenicity
Select item 1120228	NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg)	RYR1 (C4659R +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 65996	NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)	RYR1 (T4709M +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 12979	NM_000540.3(RYR1):c.14387A>G (p.Tyr4796Cys)	RYR1 (Y4796C +1 more)	Single nucleotide variant (missense variant)	succinylcholine response - Toxicity +7 more	GUncertain significance; drug response FDA Recognized database