ClinVar for PubMed (Select 16732084) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029908	NM_000540.3(RYR1):c.12242C>T (p.Thr4081Met)	RYR1 (T4081M +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 224380	NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys)	RYR1 (R1667C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 133242	NM_000540.3(RYR1):c.947G>T (p.Arg316Leu)	RYR1 (R316L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133241	NM_000540.3(RYR1):c.9356G>A (p.Arg3119His)	RYR1 (R3119H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133226	NM_000540.3(RYR1):c.8518C>T (p.Arg2840Trp)	LOC126862902, RYR1 (R2840W)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133218	NM_000540.3(RYR1):c.8188G>C (p.Asp2730His)	RYR1 (D2730H)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133207	NM_000540.3(RYR1):c.7523G>A (p.Arg2508His)	RYR1 (R2508H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 133206	NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly)	RYR1 (R2508G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133204	NM_000540.3(RYR1):c.7487C>T (p.Pro2496Leu)	RYR1 (P2496L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133201	NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln)	RYR1 (R2452Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133160	NM_000540.3(RYR1):c.652G>A (p.Val218Ile)	RYR1 (V218I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133146	NM_000540.3(RYR1):c.51_53del (p.Asp17del)	RYR1 (D17del)	Deletion (inframe_deletion)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133141	NM_000540.3(RYR1):c.497A>G (p.Asp166Gly)	RYR1 (D166G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133135	NM_000540.3(RYR1):c.4775C>T (p.Pro1592Leu)	RYR1 (P1592L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133132	NM_000540.3(RYR1):c.463C>A (p.Gln155Lys)	RYR1 (Q155K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 133129	NM_000540.3(RYR1):c.38T>G (p.Leu13Arg)	RYR1 (L13R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 133103	NM_000540.3(RYR1):c.1598G>A (p.Arg533His)	RYR1 (R533H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133096	NM_000540.3(RYR1):c.14879T>A (p.Phe4960Tyr)	RYR1 (F4960Y +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133087	NM_000540.3(RYR1):c.14680G>A (p.Ala4894Thr)	RYR1 (A4894T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133074	NM_000540.3(RYR1):c.14512C>G (p.Leu4838Val)	RYR1 (L4838V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 133063	NM_000540.3(RYR1):c.1422G>T (p.Gln474His)	RYR1 (Q474H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133053	NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)	RYR1 (R4645Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133044	NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3])	RYR1	Microsatellite (inframe_insertion)	not provided +6 more	GUncertain significance
Select item 133042	NM_000540.3(RYR1):c.12848A>T (p.Glu4283Val)	RYR1 (E4283V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 133035	NM_000540.3(RYR1):c.12241A>T (p.Thr4081Ser)	RYR1 (T4081S +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 133013	NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)	RYR1 (V3840I +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133011	NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu)	RYR1 (Q3751E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 132992	NM_000540.3(RYR1):c.1021G>C (p.Gly341Arg)	RYR1 (G341R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GPathogenic FDA Recognized database
Select item 65981	NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)	RYR1 (R2508C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 65956	NM_000540.3(RYR1):c.10100A>G (p.Lys3367Arg)	RYR1 (K3367R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 65933	NM_000540.3(RYR1):c.7635G>C (p.Glu2545Asp)	RYR1 (E2545D)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 12974	NM_000540.3(RYR1):c.6488G>A (p.Arg2163His)	RYR1 (R2163H)	Single nucleotide variant (missense variant)	methoxyflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12972	NM_000540.3(RYR1):c.7373G>A (p.Arg2458His)	RYR1 (R2458H)	Single nucleotide variant (missense variant)	methoxyflurane response - Toxicity +6 more	Gdrug response
Select item 12971	NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)	RYR1 (R2458C)	Single nucleotide variant (missense variant)	methoxyflurane response - Toxicity +7 more	GLikely pathogenic; drug response FDA Recognized database
Select item 12967	NM_000540.3(RYR1):c.487C>T (p.Arg163Cys)	RYR1 (R163C)	Single nucleotide variant (missense variant)	methoxyflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database
Select item 12966	NM_000540.3(RYR1):c.7304G>A (p.Arg2435His)	RYR1 (R2435H)	Single nucleotide variant (missense variant)	sevoflurane response - Toxicity +7 more	GPathogenic; drug response FDA Recognized database

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Items: 36