"CSER _CC_NCGL, University of Washington"[submitter] AND "RYR1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 133046	NM_000540.3(RYR1):c.131G>A (p.Arg44His)	RYR1 (R44H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133076	NM_000540.3(RYR1):c.1453A>G (p.Met485Val)	LOC129391106, RYR1 (M485V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	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 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 12964	NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)	RYR1 (R614C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 161368	NM_000540.3(RYR1):c.2119G>A (p.Gly707Ser)	RYR1 (G707S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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)	RYR1-Related Disorders +9 more	GConflicting classifications of pathogenicity
Select item 496666	NM_000540.3(RYR1):c.2320G>A (p.Gly774Arg)	RYR1 (G774R)	Single nucleotide variant (missense variant)	RYR1-related myopathy +8 more	GUncertain significance
Select item 161362	NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)	RYR1 (G893S)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 161363	NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)	RYR1 (A933T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 161367	NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys)	RYR1 (R986C)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 133124	NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)	RYR1 (R1043C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 161370	NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg)	RYR1 (P1267R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 496649	NM_000540.3(RYR1):c.4006C>A (p.Arg1336Ser)	RYR1 (R1336S)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GUncertain significance
Select item 159846	NM_000540.3(RYR1):c.4055C>G (p.Ala1352Gly)	RYR1 (A1352G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 496659	NM_000540.3(RYR1):c.4088C>G (p.Ala1363Gly)	RYR1 (A1363G)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GUncertain significance
Select item 93269	NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)	RYR1 (K1393R)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GBenign FDA Recognized database
Select item 161371	NM_000540.3(RYR1):c.4400A>G (p.Lys1467Arg)	RYR1 (K1467R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 161372	NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp)	RYR1 (R1469W)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +7 more	GConflicting classifications of pathogenicity
Select item 226046	NM_000540.3(RYR1):c.4424T>C (p.Met1475Thr)	RYR1 (M1475T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 159851	NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)	RYR1 (I1571V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 161364	NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)	RYR1 (R1679H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 161373	NM_000540.3(RYR1):c.5120G>A (p.Arg1707His)	RYR1 (R1707H)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 133144	NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)	RYR1 (S1728F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 161374	NM_000540.3(RYR1):c.6478G>A (p.Gly2160Ser)	RYR1 (G2160S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133168	NM_000540.3(RYR1):c.6640G>A (p.Val2214Ile)	RYR1 (V2214I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 159856	NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)	RYR1 (R2241*)	Single nucleotide variant (nonsense)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 133173	NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val)	RYR1 (I2321V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 133175	NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)	RYR1 (N2342S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 133182	NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr)	RYR1 (A2350T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +7 more	GPathogenic; drug response FDA Recognized database
Select item 133187	NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr)	RYR1 (A2367T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 161379	NM_000540.3(RYR1):c.7210G>A (p.Glu2404Lys)	RYR1 (E2404K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 133194	NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn)	RYR1 (D2431N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 161365	NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)	RYR1 (E3238G)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +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 132990	NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)	RYR1 (R3366H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign FDA Recognized database
Select item 132997	NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)	RYR1 (R3539H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GLikely benign FDA Recognized database
Select item 161375	NM_000540.3(RYR1):c.10621G>A (p.Ala3541Thr)	RYR1 (A3541T +1 more)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
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 161376	NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys)	RYR1 (E3853K +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GConflicting classifications of pathogenicity
Select item 161361	NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	RYR1 (Y3921* +1 more)	Single nucleotide variant (nonsense)	RYR1-Related Disorders +7 more	GPathogenic/Likely pathogenic
Select item 133021	NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	RYR1 (Y3928C)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
Select item 133032	NM_000540.3(RYR1):c.12121C>T (p.Arg4041Trp)	RYR1 (R4041W +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 93249	NM_000540.3(RYR1):c.12879G>C (p.Ala4293=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-Related Disorders +8 more	GConflicting classifications of pathogenicity
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 93252	NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)	RYR1 (D4505H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GBenign FDA Recognized database
Select item 65984	NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln)	RYR1 (R4558Q +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 161377	NM_000540.3(RYR1):c.13760C>T (p.Pro4587Leu)	RYR1 (P4587L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	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
Select item 133075	NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)	RYR1 (V4842M +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 65926	NM_000540.3(RYR1):c.14717C>T (p.Ala4906Val)	RYR1 (A4906V +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders	GLikely pathogenic
Select item 133098	NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)	RYR1 (P4973L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic FDA Recognized database
Select item 201154	NM_000540.3(RYR1):c.14928C>G (p.Phe4976Leu)	RYR1 (F4976L +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +4 more	GConflicting classifications of pathogenicity

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Items: 54