ClinVar for MedGen (Select 199773) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3075936	NM_000540.3(RYR1):c.7968C>A (p.Cys2656Ter)	RYR1 (C2656*)	Single nucleotide variant (nonsense)	Central core myopathy	GLikely pathogenic
Select item 3075935	NM_000540.3(RYR1):c.2578-2A>G	RYR1	Single nucleotide variant (splice acceptor variant)	Central core myopathy	GLikely pathogenic
Select item 3075910	NM_000540.3(RYR1):c.1999dup (p.Val667fs)	RYR1 (V667fs)	Duplication (frameshift variant)	Central core myopathy	GLikely pathogenic
Select item 3075886	NM_000540.3(RYR1):c.3364del (p.Val1122fs)	RYR1 (V1122fs)	Deletion (frameshift variant)	Central core myopathy	GLikely pathogenic
Select item 3075759	NM_000540.3(RYR1):c.1441-2A>G	LOC129391106, RYR1	Single nucleotide variant (splice acceptor variant)	Central core myopathy	GLikely pathogenic
Select item 3069521	NM_000540.3(RYR1):c.11193+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Central core myopathy +1 more	GConflicting classifications of pathogenicity
Select item 3066373	NM_000540.3(RYR1):c.13363G>A (p.Gly4455Arg)	RYR1 (G4450R +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3066267	NM_000540.3(RYR1):c.1837G>C (p.Val613Leu)	RYR1 (V613L)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GUncertain significance
Select item 3066192	NM_000540.3(RYR1):c.2812G>T (p.Val938Leu)	RYR1 (V938L)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3065844	NM_000540.3(RYR1):c.7679C>T (p.Pro2560Leu)	RYR1 (P2560L)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3065667	NM_000540.3(RYR1):c.10010G>T (p.Arg3337Leu)	RYR1 (R3337L)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3065285	NM_000540.3(RYR1):c.7282G>T (p.Ala2428Ser)	RYR1 (A2428S)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 3024255	NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)	RYR1 (G4930D +1 more)	Single nucleotide variant (missense variant)	King Denborough syndrome +3 more	GPathogenic
Select item 2885872	NM_000540.3(RYR1):c.10450dup (p.Ile3484fs)	RYR1 (I3484fs)	Duplication (frameshift variant +1 more)	Central core myopathy +1 more	GPathogenic/Likely pathogenic
Select item 2687747	NM_000540.3(RYR1):c.14438A>G (p.His4813Arg)	RYR1 (H4808R +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 2627379	NM_000540.3(RYR1):c.[11941C>T;8342_8343del]	RYR1, LOC126862902 (H3976Y +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 2585627	NM_000540.3(RYR1):c.14624T>A (p.Met4875Lys)	RYR1 (M4875K +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2585584	NM_000540.3(RYR1):c.6340C>A (p.Pro2114Thr)	RYR1 (P2114T)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2585510	NM_000540.3(RYR1):c.14594A>G (p.Asn4865Ser)	RYR1 (N4860S +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2585509	NM_000540.3(RYR1):c.4582T>A (p.Phe1528Ile)	RYR1 (F1528I)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2585200	NM_000540.3(RYR1):c.11308C>G (p.His3770Asp)	RYR1 (H3770D +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2584942	NM_000540.3(RYR1):c.334C>T (p.His112Tyr)	RYR1 (H112Y)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GUncertain significance
Select item 2584885	NM_000540.3(RYR1):c.13858G>A (p.Ala4620Thr)	RYR1 (A4620T +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2584884	NM_000540.3(RYR1):c.12590_12591del (p.Ile4196_Ser4197insTer)	RYR1	Deletion (nonsense)	Central core myopathy	GLikely pathogenic
Select item 2584344	NM_000540.3(RYR1):c.9910T>C (p.Cys3304Arg)	RYR1 (C3304R)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 2583180	NM_000540.3(RYR1):c.10868T>G (p.Leu3623Arg)	RYR1 (L3618R +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 2138288	NM_000540.3(RYR1):c.8953C>T (p.Arg2985Ter)	RYR1 (R2985*)	Single nucleotide variant (nonsense)	Central core myopathy +1 more	GPathogenic/Likely pathogenic
Select item 1933235	NM_000540.3(RYR1):c.2633A>G (p.His878Arg)	RYR1 (H878R)	Single nucleotide variant (missense variant)	Central core myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1710274	NM_000540.3(RYR1):c.9760G>A (p.Gly3254Arg)	RYR1 (G3254R)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1710030	NM_000540.3(RYR1):c.2753A>G (p.Asn918Ser)	RYR1 (N918S)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1709977	NM_000540.3(RYR1):c.14596A>G (p.Lys4866Glu)	RYR1 (K4861E +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 1709698	NM_000540.3(RYR1):c.7426A>T (p.Ile2476Phe)	RYR1 (I2476F)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GUncertain significance
Select item 1709328	NM_000540.3(RYR1):c.14599A>G (p.Ser4867Gly)	RYR1 (S4862G +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GUncertain significance
Select item 1709254	NM_000540.3(RYR1):c.6995T>G (p.Leu2332Arg)	RYR1 (L2332R)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1709183	NM_000540.3(RYR1):c.10749GGA[1] (p.Glu3584del)	RYR1 (E3579del +1 more)	Microsatellite (inframe_deletion)	Central core myopathy +1 more	GUncertain significance
Select item 1709010	NM_000540.3(RYR1):c.6811_6836del (p.Thr2271fs)	RYR1 (T2271fs)	Deletion (frameshift variant)	Central core myopathy	GPathogenic
Select item 1708990	NM_000540.3(RYR1):c.1492A>T (p.Thr498Ser)	LOC129391106, RYR1 (T498S)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1708106	NM_000540.3(RYR1):c.7166A>G (p.Asp2389Gly)	RYR1 (D2389G)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GUncertain significance
Select item 1708098	NM_000540.3(RYR1):c.11120G>A (p.Arg3707His)	RYR1 (R3702H +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GUncertain significance
Select item 1705733	NM_000540.3(RYR1):c.2168-1G>A	RYR1	Single nucleotide variant (splice acceptor variant)	Central core myopathy	GLikely pathogenic
Select item 1702862	NM_000540.3(RYR1):c.9345del (p.Ser3116fs)	RYR1 (S3116fs)	Deletion (frameshift variant)	RYR1-Related Disorders	GPathogenic
Select item 1701932	NM_000540.3(RYR1):c.10009C>T (p.Arg3337Trp)	RYR1 (R3337W)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +2 more	GUncertain significance
Select item 1696863	NM_000540.3(RYR1):c.12853_12864dup (p.Thr4285_Thr4288dup)	RYR1	Duplication (inframe_insertion)	Central core myopathy	GUncertain significance
Select item 1695404	NM_000540.3(RYR1):c.11715G>C (p.Gln3905His)	RYR1 (Q3900H +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 1694455	NM_000540.3(RYR1):c.2682G>C (p.Pro894=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +1 more	GUncertain significance
Select item 1678653	NM_000540.3(RYR1):c.10958T>A (p.Phe3653Tyr)	RYR1 (F3648Y +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1678617	NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	RYR1 (T214A)	Single nucleotide variant (missense variant)	King Denborough syndrome +4 more	GUncertain significance
Select item 1643897	NM_000540.3(RYR1):c.1925+19G>A	RYR1	Single nucleotide variant (intron variant)	Congenital myopathy with fiber type disproportion +5 more	GLikely benign
Select item 1639537	NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital myopathy with fiber type disproportion +5 more	GLikely benign
Select item 1624248	NM_000540.3(RYR1):c.12013-18C>A	RYR1	Single nucleotide variant (intron variant)	King Denborough syndrome +5 more	GLikely benign
Select item 1567396	NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +5 more	GLikely benign
Select item 1513075	NM_000540.3(RYR1):c.4853G>A (p.Arg1618His)	RYR1 (R1618H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1509002	NM_000540.3(RYR1):c.13168G>A (p.Glu4390Lys)	RYR1 (E4385K +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +6 more	GUncertain significance
Select item 1501089	NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys)	RYR1 (E2347K)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1498872	NM_000540.3(RYR1):c.14423T>A (p.Phe4808Tyr)	RYR1 (F4803Y +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GLikely pathogenic
Select item 1492576	NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys)	RYR1 (R1420C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1489982	NM_000540.3(RYR1):c.3124G>A (p.Val1042Met)	RYR1 (V1042M)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1485334	NM_000540.3(RYR1):c.13437+14C>T	RYR1	Single nucleotide variant (intron variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1482326	NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser)	RYR1 (P3297S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1480072	NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile)	RYR1 (T2543I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1467509	NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp)	RYR1 (R3499W +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1462896	NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu)	RYR1 (P1763L)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1462128	NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)	RYR1 (W275C)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1454292	NM_000540.3(RYR1):c.14130-2A>G	RYR1	Single nucleotide variant (splice acceptor variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1450238	NM_000540.3(RYR1):c.13201G>A (p.Gly4401Arg)	RYR1 (G4396R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1448577	NM_000540.3(RYR1):c.12314C>G (p.Pro4105Arg)	RYR1 (P4105R +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1441339	NM_000540.3(RYR1):c.5891G>A (p.Arg1964His)	RYR1 (R1964H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 1439051	NM_000540.3(RYR1):c.10489A>C (p.Lys3497Gln)	RYR1 (K3492Q +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GUncertain significance
Select item 1438746	NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser)	RYR1 (I1717S)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +5 more	GUncertain significance
Select item 1434613	NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)	RYR1 (K374del)	Microsatellite (inframe_deletion)	Central core myopathy +5 more	GUncertain significance
Select item 1432518	NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg)	RYR1 (W1276R)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +5 more	GUncertain significance
Select item 1431756	NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)	RYR1 (N1559fs)	Duplication (frameshift variant)	Central core myopathy +5 more	GPathogenic/Likely pathogenic
Select item 1430036	NM_000540.3(RYR1):c.985G>A (p.Asp329Asn)	RYR1 (D329N)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +5 more	GUncertain significance
Select item 1428315	NM_000540.3(RYR1):c.13774G>A (p.Asp4592Asn)	RYR1 (D4587N +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1421397	NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe)	RYR1 (L3003F)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1419196	NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp)	RYR1 (E1869D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 1415915	NM_000540.3(RYR1):c.13279C>T (p.His4427Tyr)	LOC130064357, RYR1 (H4422Y +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1414780	NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu)	RYR1 (P1795L)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1412777	NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)	RYR1 (A2287D)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1411026	NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly)	RYR1 (A2598G)	Single nucleotide variant (missense variant)	King Denborough syndrome +6 more	GUncertain significance
Select item 1403415	NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup)	RYR1	Duplication (inframe_insertion)	Central core myopathy +5 more	GUncertain significance
Select item 1400496	NM_000540.3(RYR1):c.12310G>A (p.Gly4104Ser)	RYR1 (G4099S +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 1398835	NM_000540.3(RYR1):c.1967C>T (p.Thr656Met)	RYR1 (T656M)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1398137	NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys)	RYR1 (E3440K)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1391067	NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)	RYR1 (T692A)	Single nucleotide variant (missense variant)	King Denborough syndrome +6 more	GUncertain significance
Select item 1384442	NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala)	RYR1 (T1545A)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1377190	NM_000540.3(RYR1):c.12585G>T (p.Glu4195Asp)	RYR1 (E4190D +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1368612	NM_000540.3(RYR1):c.7153C>T (p.Arg2385Cys)	RYR1 (R2385C)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 1367389	NM_000540.3(RYR1):c.947G>A (p.Arg316His)	RYR1 (R316H)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1366106	NM_000540.3(RYR1):c.12599A>T (p.Asn4200Ile)	RYR1 (N4200I +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1356329	NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln)	RYR1 (R1019Q)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1354990	NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3])	RYR1	Duplication (inframe_insertion)	Central core myopathy +5 more	GUncertain significance
Select item 1352926	NM_000540.3(RYR1):c.13168G>C (p.Glu4390Gln)	RYR1 (E4385Q +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1346888	NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu)	RYR1 (P3244L)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1346689	NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser)	RYR1 (N1124S)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1341373	NM_000540.3(RYR1):c.14811C>G (p.Ile4937Met)	RYR1 (I4932M +1 more)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +1 more	GLikely pathogenic
Select item 1341372	NM_000540.3(RYR1):c.14591A>C (p.Tyr4864Ser)	RYR1 (Y4859S +1 more)	Single nucleotide variant (missense variant)	Central core myopathy	GLikely pathogenic
Select item 1339210	NM_000540.3(RYR1):c.13565C>A (p.Pro4522His)	RYR1 (P4517H +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1339209	NM_000540.3(RYR1):c.1888C>G (p.Leu630Val)	RYR1 (L630V)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 1339042	NM_000540.3(RYR1):c.7215-3C>T	RYR1	Single nucleotide variant (intron variant)	Central core myopathy	GUncertain significance

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