"Mendelics"[submitter] AND "RYR1"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 590504	NM_000540.3(RYR1):c.2602C>T (p.Arg868Cys)	RYR1 (R868C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 161362	NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)	RYR1 (G893S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +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 803552	NM_000540.3(RYR1):c.2936C>G (p.Ala979Gly)	RYR1 (A979G)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
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 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 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 478235	NM_000540.3(RYR1):c.5011G>A (p.Ala1671Thr)	RYR1 (A1671T)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
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 478260	NM_000540.3(RYR1):c.6671G>A (p.Arg2224His)	RYR1 (R2224H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance 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 803553	NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn)	RYR1 (I2358N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 803554	NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg)	RYR1 (G2375R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GLikely pathogenic
Select item 133190	NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GBenign
Select item 161365	NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)	RYR1 (E3238G)	Single nucleotide variant (missense variant)	Multiminicore myopathy +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 1685080	NM_000540.3(RYR1):c.10555C>T (p.Pro3519Ser)	RYR1 (P3514S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 803555	NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)	RYR1 (P3514L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance 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 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 161361	NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	RYR1 (Y3921* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 133021	NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)	RYR1 (Y3928C)	Single nucleotide variant (missense variant)	See cases +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 803556	NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)	RYR1 (L4563V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 803557	NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)	RYR1 (M4640V +1 more)	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 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 12984	NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	RYR1 (V4849I +1 more)	Single nucleotide variant (missense variant)	sevoflurane response - Toxicity +6 more	Gdrug response
Select item 1055202	NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del)	RYR1 (N4860del +1 more)	Microsatellite (inframe_deletion)	Central core myopathy +1 more	GConflicting classifications of pathogenicity
Select item 12975	NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)	RYR1 (I4898T +1 more)	Single nucleotide variant (missense variant)	methoxyflurane response - Toxicity +7 more	GUncertain significance; drug response FDA Recognized database

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Items: 34