ClinVar for MedGen (Select 340597) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237453	NM_000540.3(RYR1):c.7522C>A (p.Arg2508Ser)	RYR1 (R2508S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3236858	NM_000540.3(RYR1):c.693del (p.Ile232fs)	RYR1 (I232fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3236857	NM_000540.3(RYR1):c.165+1G>T	RYR1	Single nucleotide variant (splice donor variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3236838	NM_000540.3(RYR1):c.[10097G>A;11798A>G4711A>G]	RYR1 (R3366H +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3070211	NM_000540.3(RYR1):c.15021+2T>G	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3024255	NM_000540.3(RYR1):c.14804G>A (p.Gly4935Asp)	RYR1 (G4930D +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +3 more	GPathogenic
Select item 2904997	NM_000540.3(RYR1):c.6469del (p.Glu2157fs)	RYR1 (E2157fs)	Deletion (frameshift variant)	RYR1-related disorder +2 more	GConflicting classifications of pathogenicity
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 2583137	NM_000540.3(RYR1):c.10441-48G>A	RYR1	Single nucleotide variant (intron variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 2574674	NM_000540.3(RYR1):c.[1834G>C];[2045G>A]			Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 2572642	NM_000540.3(RYR1):c.128A>C (p.Asn43Thr)	RYR1 (N43T)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 2506533	GRCh37/hg19 19q13.2(chr19:38987608-38993136)	RYR1	Copy number loss	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 2444411	NM_000540.3(RYR1):c.11761T>C (p.Tyr3921His)	RYR1 (Y3916H +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 2168903	NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)	RYR1 (A4348fs +1 more)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GPathogenic/Likely pathogenic
Select item 2165746	NM_000540.3(RYR1):c.12012G>A (p.Gln4004=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GConflicting classifications of pathogenicity
Select item 2141851	NM_000540.3(RYR1):c.10561G>A (p.Gly3521Ser)	RYR1 (G3521S +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2039302	NM_000540.3(RYR1):c.6797-6_6798del	RYR1	Deletion (splice acceptor variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GPathogenic
Select item 1694455	NM_000540.3(RYR1):c.2682G>C (p.Pro894=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +1 more	GUncertain significance
Select item 1678617	NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	RYR1 (T214A)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GUncertain significance
Select item 1643897	NM_000540.3(RYR1):c.1925+19G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +5 more	GLikely benign
Select item 1639537	NM_000540.3(RYR1):c.11091C>T (p.Pro3697=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GLikely benign
Select item 1624248	NM_000540.3(RYR1):c.12013-18C>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +5 more	GLikely benign
Select item 1567396	NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +5 more	GLikely benign
Select item 1513075	NM_000540.3(RYR1):c.4853G>A (p.Arg1618His)	RYR1 (R1618H)	Single nucleotide variant (missense variant)	King Denborough syndrome +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)	King Denborough syndrome +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 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)	King Denborough syndrome +5 more	GUncertain significance
Select item 1482326	NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser)	RYR1 (P3297S)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1480072	NM_000540.3(RYR1):c.7628C>T (p.Thr2543Ile)	RYR1 (T2543I)	Single nucleotide variant (missense variant)	King Denborough syndrome +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)	King Denborough syndrome +5 more	GUncertain significance
Select item 1462896	NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu)	RYR1 (P1763L)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1462128	NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)	RYR1 (W275C)	Single nucleotide variant (missense variant)	King Denborough syndrome +5 more	GUncertain significance
Select item 1454292	NM_000540.3(RYR1):c.14130-2A>G	RYR1	Single nucleotide variant (splice acceptor variant)	King Denborough syndrome +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)	King Denborough syndrome +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)	King Denborough syndrome +5 more	GUncertain significance
Select item 1441339	NM_000540.3(RYR1):c.5891G>A (p.Arg1964His)	RYR1 (R1964H)	Single nucleotide variant (missense variant)	King Denborough syndrome +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)	King Denborough syndrome +5 more	GUncertain significance
Select item 1438746	NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser)	RYR1 (I1717S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1434613	NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)	RYR1 (K374del)	Microsatellite (inframe_deletion)	King Denborough syndrome +5 more	GUncertain significance
Select item 1432518	NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg)	RYR1 (W1276R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1431756	NM_000540.3(RYR1):c.4674dup (p.Asn1559fs)	RYR1 (N1559fs)	Duplication (frameshift variant)	King Denborough syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1430036	NM_000540.3(RYR1):c.985G>A (p.Asp329Asn)	RYR1 (D329N)	Single nucleotide variant (missense variant)	King Denborough syndrome +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)	King Denborough syndrome +5 more	GUncertain significance
Select item 1421397	NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe)	RYR1 (L3003F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1419196	NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp)	RYR1 (E1869D)	Single nucleotide variant (missense variant)	not provided +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)	King Denborough syndrome +5 more	GUncertain significance
Select item 1414780	NM_000540.3(RYR1):c.5384C>T (p.Pro1795Leu)	RYR1 (P1795L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +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)	not provided +6 more	GUncertain significance
Select item 1403415	NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup)	RYR1	Duplication (inframe_insertion)	King Denborough syndrome +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)	not provided +6 more	GUncertain significance
Select item 1398835	NM_000540.3(RYR1):c.1967C>T (p.Thr656Met)	RYR1 (T656M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1398137	NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys)	RYR1 (E3440K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1391067	NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)	RYR1 (T692A)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1384442	NM_000540.3(RYR1):c.4633A>G (p.Thr1545Ala)	RYR1 (T1545A)	Single nucleotide variant (missense variant)	King Denborough syndrome +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)	RYR1-related disorder +6 more	GUncertain significance
Select item 1367389	NM_000540.3(RYR1):c.947G>A (p.Arg316His)	RYR1 (R316H)	Single nucleotide variant (missense variant)	RYR1-related disorder +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)	RYR1-related disorder +5 more	GUncertain significance
Select item 1356329	NM_000540.3(RYR1):c.3056G>A (p.Arg1019Gln)	RYR1 (R1019Q)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 1354990	NM_000540.3(RYR1):c.13032_13040dup (p.4343AGA[3])	RYR1	Duplication (inframe_insertion)	King Denborough syndrome +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)	RYR1-related disorder +5 more	GUncertain significance
Select item 1346888	NM_000540.3(RYR1):c.9731C>T (p.Pro3244Leu)	RYR1 (P3244L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1346689	NM_000540.3(RYR1):c.3371A>G (p.Asn1124Ser)	RYR1 (N1124S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1341375	NM_000540.3(RYR1):c.10729C>G (p.Arg3577Gly)	RYR1 (R3572G +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 1341371	NM_000540.3(RYR1):c.12739_12750del (p.Ala4247_Ile4250del)	RYR1	Deletion (inframe_deletion)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 1341370	NM_000540.3(RYR1):c.13762C>T (p.Pro4588Ser)	RYR1 (P4583S +1 more)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 1339210	NM_000540.3(RYR1):c.13565C>A (p.Pro4522His)	RYR1 (P4517H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1335340	NM_000540.3(RYR1):c.12846C>T (p.Leu4282=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GLikely benign
Select item 1333731	NM_000540.3(RYR1):c.14542G>C (p.Val4848Leu)	RYR1 (V4843L +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
Select item 1331337	NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val)	RYR1 (I4812V +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 1330370	NM_000540.3(RYR1):c.14364+1G>T	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 1330369	NM_000540.3(RYR1):c.9868G>A (p.Glu3290Lys)	RYR1 (E3290K)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia	GUncertain significance FDA Recognized database
Select item 1312192	NM_000540.3(RYR1):c.24C>A (p.Asp8Glu)	RYR1 (D8E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GUncertain significance
Select item 1305923	NM_000540.3(RYR1):c.2998G>A (p.Val1000Met)	RYR1 (V1000M)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1304575	NM_000540.3(RYR1):c.737A>G (p.Tyr246Cys)	RYR1 (Y246C)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1303160	NM_000540.3(RYR1):c.13885G>A (p.Val4629Met)	RYR1 (V4624M +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 1301434	NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg)	RYR1 (W4697R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1217166	NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr)	RYR1 (A4299T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 1210308	NM_000540.3(RYR1):c.6304G>C (p.Val2102Leu)	RYR1 (V2102L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 1210306	NM_000540.3(RYR1):c.119G>C (p.Gly40Ala)	RYR1 (G40A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance FDA Recognized database
Select item 1200067	NM_000540.3(RYR1):c.2384G>A (p.Arg795His)	RYR1 (R795H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +6 more	GUncertain significance
Select item 1187815	NM_000540.3(RYR1):c.9511A>C (p.Ser3171Arg)	RYR1 (S3171R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1179445	NM_000540.3(RYR1):c.7723C>T (p.Arg2575Cys)	RYR1 (R2575C)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1141782	NM_000540.3(RYR1):c.2931G>A (p.Thr977=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GLikely benign
Select item 1124852	NM_000540.3(RYR1):c.10476A>G (p.Glu3492=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GLikely benign
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 1120218	NM_000540.2(RYR1):c.[14344G>A;14928C>G]	RYR1 (F4976L +3 more)	Single nucleotide variant (missense variant)	Central core myopathy	GPathogenic
Select item 1089697	NM_000540.3(RYR1):c.1518A>G (p.Ala506=)	LOC129391106, RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia +6 more	GLikely benign
Select item 1072861	NM_000540.3(RYR1):c.2427_2446dup (p.Pro816fs)	RYR1 (P816fs)	Duplication (frameshift variant)	RYR1-related disorder +1 more	GPathogenic
Select item 1061038	NM_000540.3(RYR1):c.10347C>T (p.His3449=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1061036	NM_000540.3(RYR1):c.2682G>T (p.Pro894=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 1060765	NM_000540.3(RYR1):c.2686C>T (p.Arg896Trp)	RYR1 (R896W)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 1060273	NM_000540.3(RYR1):c.3853A>G (p.Met1285Val)	RYR1 (M1285V)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 1059287	NM_000540.3(RYR1):c.8904C>A (p.Asp2968Glu)	RYR1 (D2968E)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1059239	NM_000540.3(RYR1):c.3505A>G (p.Met1169Val)	RYR1 (M1169V)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1059238	NM_000540.3(RYR1):c.9796A>T (p.Met3266Leu)	RYR1 (M3266L)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance
Select item 1054955	NM_000540.3(RYR1):c.3052C>G (p.Pro1018Ala)	RYR1 (P1018A)	Single nucleotide variant (missense variant)	Central core myopathy +6 more	GUncertain significance

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