ClinVar for MedGen (Select 327082) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892336	NM_000540.3(RYR1):c.9700A>G (p.Asn3234Asp)	RYR1 (N3234D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 3892333	NM_000540.3(RYR1):c.11782T>A (p.Ser3928Thr)	RYR1 (S3923T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 3780574	NM_000540.3(RYR1):c.855dup (p.Thr286fs)	RYR1 (T286fs)	Duplication (frameshift variant)	Central core myopathy +3 more	GLikely pathogenic
Select item 3780573	NM_000540.3(RYR1):c.2873A>G (p.Tyr958Cys)	RYR1 (Y958C)	Single nucleotide variant (missense variant)	Central core myopathy +3 more	GUncertain significance
Select item 3672421	NM_000540.3(RYR1):c.10450A>G (p.Ile3484Val)	RYR1 (I3484V)	Single nucleotide variant (missense variant +1 more)	King Denborough syndrome +4 more	GUncertain significance
Select item 3583774	NM_000540.3(RYR1):c.13471C>G (p.Pro4491Ala)	RYR1 (P4491A +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +4 more	GUncertain significance
Select item 3583773	NM_000540.3(RYR1):c.10828G>T (p.Glu3610Ter)	RYR1 (E3605* +1 more)	Single nucleotide variant (nonsense)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583772	NM_000540.3(RYR1):c.9886del (p.Leu3296fs)	RYR1 (L3296fs)	Deletion (frameshift variant)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583771	NM_000540.3(RYR1):c.9625C>T (p.Gln3209Ter)	RYR1 (Q3209*)	Single nucleotide variant (nonsense)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583769	NM_000540.3(RYR1):c.3382-1G>A	RYR1	Single nucleotide variant (splice acceptor variant)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3583768	NM_000540.3(RYR1):c.1297A>G (p.Thr433Ala)	RYR1 (T433A)	Single nucleotide variant (missense variant)	King Denborough syndrome +3 more	GUncertain significance
Select item 3583767	NM_000540.3(RYR1):c.718C>T (p.Gln240Ter)	RYR1 (Q240*)	Single nucleotide variant (nonsense)	King Denborough syndrome +3 more	GPathogenic
Select item 3382896	NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)	RYR1 (D2601N)	Single nucleotide variant (missense variant)	King Denborough syndrome +3 more	GUncertain significance
Select item 3382725	NM_000540.3(RYR1):c.13667T>C (p.Leu4556Pro)	RYR1 (L4551P +1 more)	Single nucleotide variant (missense variant)	King Denborough syndrome +3 more	GLikely pathogenic
Select item 3382718	NM_000540.3(RYR1):c.14138C>T (p.Pro4713Leu)	RYR1 (P4708L +1 more)	Single nucleotide variant (missense variant)	King Denborough syndrome +3 more	GUncertain significance
Select item 3382070	NM_000540.3(RYR1):c.11444T>C (p.Met3815Thr)	RYR1 (M3810T +1 more)	Single nucleotide variant (missense variant)	King Denborough syndrome +3 more	GUncertain significance
Select item 3338100	NM_000540.3(RYR1):c.11359+1del	RYR1	Deletion (splice donor variant)	King Denborough syndrome	GLikely pathogenic
Select item 3256762	NM_000540.3(RYR1):c.13913G>T (p.Gly4638Val)	RYR1 (G4633V +1 more)	Single nucleotide variant (missense variant)	King Denborough syndrome	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 3070675	NM_000540.3(RYR1):c.4589C>G (p.Ala1530Gly)	RYR1 (A1530G)	Single nucleotide variant (missense variant)	Central core myopathy +3 more	GUncertain significance
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 3017700	NM_000540.3(RYR1):c.7927-1G>T	RYR1	Single nucleotide variant (splice acceptor variant)	King Denborough syndrome +4 more	GLikely pathogenic
Select item 2991180	NM_000540.3(RYR1):c.12095-2A>G	RYR1	Single nucleotide variant (splice acceptor variant)	RYR1-related disorder +4 more	GLikely pathogenic
Select item 2916612	NM_000540.3(RYR1):c.11608+1G>A	RYR1	Single nucleotide variant (splice donor variant)	RYR1-related disorder +4 more	GLikely pathogenic
Select item 2738605	NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)	RYR1 (R4888L +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +4 more	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 2444194	NM_000540.3(RYR1):c.6500T>G (p.Ile2167Ser)	RYR1 (I2167S)	Single nucleotide variant (missense variant)	King Denborough syndrome	GLikely pathogenic
Select item 2168951	NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)	RYR1 (R817*)	Single nucleotide variant (nonsense)	King Denborough syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2066582	NM_000540.3(RYR1):c.1474C>G (p.Arg492Gly)	LOC129391106, RYR1 (R492G)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 2065051	NM_000540.3(RYR1):c.8541+1del	LOC126862902, RYR1	Deletion (splice donor variant)	Central core myopathy +4 more	GLikely pathogenic
Select item 1709285	NM_000540.3(RYR1):c.7871G>C (p.Arg2624Pro)	RYR1 (R2624P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GUncertain significance
Select item 1678617	NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	RYR1 (T214A)	Single nucleotide variant (missense variant)	Central core myopathy +4 more	GUncertain significance
Select item 1643897	NM_000540.3(RYR1):c.1925+19G>A	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +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)	Central core myopathy +6 more	GLikely benign
Select item 1567396	NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)	RYR1	Single nucleotide variant (synonymous variant)	RYR1-related disorder +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)	Central core myopathy +6 more	GUncertain significance
Select item 1508794	NM_000540.3(RYR1):c.1916A>G (p.Tyr639Cys)	RYR1 (Y639C)	Single nucleotide variant (missense variant)	Central core myopathy +2 more	GUncertain significance
Select item 1501089	NM_000540.3(RYR1):c.7039G>A (p.Glu2347Lys)	RYR1 (E2347K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1492576	NM_000540.3(RYR1):c.4258C>T (p.Arg1420Cys)	RYR1 (R1420C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GUncertain significance
Select item 1489982	NM_000540.3(RYR1):c.3124G>A (p.Val1042Met)	RYR1 (V1042M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1485334	NM_000540.3(RYR1):c.13437+14C>T	RYR1	Single nucleotide variant (intron variant)	Central core myopathy +5 more	GUncertain significance
Select item 1482326	NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser)	RYR1 (P3297S)	Single nucleotide variant (missense variant)	Central core myopathy +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 1476084	NM_000540.3(RYR1):c.742G>T (p.Gly248Trp)	RYR1 (G248W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 1467509	NM_000540.3(RYR1):c.10495C>T (p.Arg3499Trp)	RYR1 (R3499W +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1462896	NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu)	RYR1 (P1763L)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1462128	NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)	RYR1 (W275C)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1454292	NM_000540.3(RYR1):c.14130-2A>G	RYR1	Single nucleotide variant (splice acceptor variant)	Central core myopathy +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)	Central core myopathy +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)	Central core myopathy +5 more	GUncertain significance
Select item 1445779	NM_000540.3(RYR1):c.2608C>T (p.Arg870Trp)	RYR1 (R870W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +4 more	GUncertain significance
Select item 1441339	NM_000540.3(RYR1):c.5891G>A (p.Arg1964His)	RYR1 (R1964H)	Single nucleotide variant (missense variant)	Central core myopathy +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)	Central core myopathy +5 more	GUncertain significance
Select item 1438746	NM_000540.3(RYR1):c.5150T>G (p.Ile1717Ser)	RYR1 (I1717S)	Single nucleotide variant (missense variant)	Central core myopathy +5 more	GUncertain significance
Select item 1435104	NM_000540.3(RYR1):c.46-10G>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +2 more	GUncertain significance
Select item 1434613	NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del)	RYR1 (K374del)	Microsatellite (inframe_deletion)	Central core myopathy +6 more	GConflicting classifications of pathogenicity
Select item 1432518	NM_000540.3(RYR1):c.3826T>A (p.Trp1276Arg)	RYR1 (W1276R)	Single nucleotide variant (missense variant)	Central core myopathy +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)	Central core myopathy +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)	Central core myopathy +5 more	GUncertain significance
Select item 1419196	NM_000540.3(RYR1):c.5607G>C (p.Glu1869Asp)	RYR1 (E1869D)	Single nucleotide variant (missense variant)	Central core myopathy +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)	RYR1-related disorder +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)	Malignant hyperthermia, susceptibility to, 1 +7 more	GConflicting classifications of pathogenicity
Select item 1411026	NM_000540.3(RYR1):c.7793C>G (p.Ala2598Gly)	RYR1 (A2598G)	Single nucleotide variant (missense variant)	RYR1-related disorder +7 more	GUncertain significance
Select item 1403415	NM_000540.3(RYR1):c.12842_12859dup (p.Gly4281_Ala4286dup)	RYR1	Duplication (inframe_insertion)	RYR1-related disorder +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)	RYR1-related disorder +6 more	GUncertain significance
Select item 1398835	NM_000540.3(RYR1):c.1967C>T (p.Thr656Met)	RYR1 (T656M)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 1398137	NM_000540.3(RYR1):c.10318G>A (p.Glu3440Lys)	RYR1 (E3440K)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 1391067	NM_000540.3(RYR1):c.2074A>G (p.Thr692Ala)	RYR1 (T692A)	Single nucleotide variant (missense variant)	Central core myopathy +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)	RYR1-related disorder +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)	Malignant hyperthermia, susceptibility to, 1 +6 more	GConflicting classifications of pathogenicity
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)	Central core myopathy +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 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 1335340	NM_000540.3(RYR1):c.12846C>T (p.Leu4282=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +5 more	GLikely benign
Select item 1331337	NM_000540.3(RYR1):c.14449A>G (p.Ile4817Val)	RYR1 (I4812V +1 more)	Single nucleotide variant (missense variant)	Central core myopathy +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 significanceFDA 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 significanceFDA Recognized database
Select item 1305923	NM_000540.3(RYR1):c.2998G>A (p.Val1000Met)	RYR1 (V1000M)	Single nucleotide variant (missense variant)	Central core myopathy +6 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)	Central core myopathy +6 more	GUncertain significance
Select item 1217166	NM_000540.3(RYR1):c.12910G>A (p.Ala4304Thr)	RYR1 (A4299T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 significanceFDA 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 significanceFDA Recognized database
Select item 1200067	NM_000540.3(RYR1):c.2384G>A (p.Arg795His)	RYR1 (R795H)	Single nucleotide variant (missense variant)	RYR1-related disorder +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)	RYR1-related disorder +5 more	GLikely benign
Select item 1124852	NM_000540.3(RYR1):c.10476A>G (p.Glu3492=)	RYR1	Single nucleotide variant (synonymous variant)	King Denborough syndrome +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 significanceFDA Recognized database

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