ClinVar for MedGen (Select 340597) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 1037

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896972	NM_000540.3(RYR1):c.2902C>A (p.Pro968Thr)	RYR1 (P968T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 3896384	NM_000540.3(RYR1):c.11671dup (p.Cys3891fs)	RYR1 (C3886fs +1 more)	Duplication (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 3892336	NM_000540.3(RYR1):c.9700A>G (p.Asn3234Asp)	RYR1 (N3234D)	Single nucleotide variant (missense variant)	Central core myopathy +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)	Central core myopathy +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 3776009	NM_000540.3(RYR1):c.8461T>C (p.Trp2821Arg)	LOC126862902, RYR1 (W2821R)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 3775620	NM_000540.3(RYR1):c.8025_8026del (p.Arg2676fs)	RYR1 (R2676fs)	Microsatellite (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3775467	NM_000540.3(RYR1):c.2786+1G>C	RYR1	Single nucleotide variant (splice donor variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3731509	NM_000540.3(RYR1):c.7841T>G (p.Ile2614Ser)	RYR1 (I2614S)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 3731508	NM_000540.3(RYR1):c.3149A>G (p.Tyr1050Cys)	RYR1 (Y1050C)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 3672421	NM_000540.3(RYR1):c.10450A>G (p.Ile3484Val)	RYR1 (I3484V)	Single nucleotide variant (missense variant +1 more)	RYR1-related disorder +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 3573465	NM_000540.3(RYR1):c.7833C>T (p.Cys2611=)	RYR1	Single nucleotide variant (synonymous variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3392480	NM_000540.3(RYR1):c.10336del (p.Ser3446fs)	RYR1 (S3446fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3382896	NM_000540.3(RYR1):c.7801G>A (p.Asp2601Asn)	RYR1 (D2601N)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +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)	Congenital multicore myopathy with external ophthalmoplegia +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)	Congenital multicore myopathy with external ophthalmoplegia +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)	Congenital multicore myopathy with external ophthalmoplegia +3 more	GUncertain significance
Select item 3377284	NM_000540.3(RYR1):c.3899del (p.Phe1300fs)	RYR1 (F1300fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GPathogenic
Select item 3341464	NM_000540.3(RYR1):c.2065G>T (p.Glu689Ter)	RYR1 (E689*)	Single nucleotide variant (nonsense)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3256723	NM_000540.3(RYR1):c.8068-3C>G	RYR1	Single nucleotide variant (intron variant)	Congenital multicore myopathy with external ophthalmoplegia	GUncertain significance
Select item 3255605	NM_000540.3(RYR1):c.1007_1008del (p.Pro336fs)	RYR1 (P336fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
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)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
Select item 3236857	NM_000540.3(RYR1):c.165+1G>T	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
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 3233240	NM_000540.3(RYR1):c.8373del (p.Arg2792fs)	LOC126862902, RYR1 (R2792fs)	Deletion (frameshift variant)	Congenital multicore myopathy with external ophthalmoplegia	GLikely pathogenic
Select item 3070675	NM_000540.3(RYR1):c.4589C>G (p.Ala1530Gly)	RYR1 (A1530G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +3 more	GUncertain significance
Select item 3070323	NM_000540.3(RYR1):c.14643G>A (p.Met4881Ile)	RYR1 (M4876I +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +1 more	GConflicting classifications of pathogenicity
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)	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)	Congenital multicore myopathy with external ophthalmoplegia +4 more	GLikely pathogenic
Select item 2916612	NM_000540.3(RYR1):c.11608+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Central core myopathy +4 more	GLikely pathogenic
Select item 2904997	NM_000540.3(RYR1):c.6469del (p.Glu2157fs)	RYR1 (E2157fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2865933	NM_000540.3(RYR1):c.11956del (p.Asp3986fs)	RYR1 (D3986fs +1 more)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 2738605	NM_000540.3(RYR1):c.14678G>T (p.Arg4893Leu)	RYR1 (R4888L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +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 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 2175784	NM_000540.3(RYR1):c.5227G>A (p.Ala1743Thr)	RYR1 (A1743T)	Single nucleotide variant (missense variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GUncertain significance
Select item 2168951	NM_000540.3(RYR1):c.2449C>T (p.Arg817Ter)	RYR1 (R817*)	Single nucleotide variant (nonsense)	RYR1-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 2168903	NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs)	RYR1 (A4348fs +1 more)	Deletion (frameshift variant)	RYR1-related disorder +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 2141021	NM_000540.3(RYR1):c.14725G>A (p.Glu4909Lys)	RYR1 (E4904K +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +3 more	GUncertain significance
Select item 2066582	NM_000540.3(RYR1):c.1474C>G (p.Arg492Gly)	LOC129391106, RYR1 (R492G)	Single nucleotide variant (missense variant)	RYR1-related disorder +6 more	GUncertain significance
Select item 2065051	NM_000540.3(RYR1):c.8541+1del	LOC126862902, RYR1	Deletion (splice donor variant)	RYR1-related disorder +4 more	GLikely pathogenic
Select item 2039302	NM_000540.3(RYR1):c.6797-6_6798del	RYR1	Deletion (splice acceptor variant)	Congenital multicore myopathy with external ophthalmoplegia +2 more	GPathogenic
Select item 1980760	NM_000540.3(RYR1):c.5335C>T (p.Pro1779Ser)	RYR1 (P1779S)	Single nucleotide variant (missense variant)	RYR1-related disorder	GUncertain significance
Select item 1717712	NM_000540.3(RYR1):c.14587T>C (p.Phe4863Leu)	RYR1 (F4858L +1 more)	Single nucleotide variant (missense variant)	RYR1-related disorder +1 more	GUncertain significance
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 1678617	NM_000540.3(RYR1):c.640A>G (p.Thr214Ala)	RYR1 (T214A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +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)	Malignant hyperthermia, susceptibility to, 1 +5 more	GLikely benign
Select item 1624248	NM_000540.3(RYR1):c.12013-18C>A	RYR1	Single nucleotide variant (intron variant)	RYR1-related disorder +6 more	GLikely benign
Select item 1567396	NM_000540.3(RYR1):c.12813C>T (p.Gly4271=)	RYR1	Single nucleotide variant (synonymous variant)	Central core myopathy +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)	Malignant hyperthermia, susceptibility to, 1 +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)	Malignant hyperthermia, susceptibility to, 1 +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)	Malignant hyperthermia, susceptibility to, 1 +5 more	GUncertain significance
Select item 1482326	NM_000540.3(RYR1):c.9889C>T (p.Pro3297Ser)	RYR1 (P3297S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +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)	RYR1-related disorder +5 more	GUncertain significance
Select item 1462896	NM_000540.3(RYR1):c.5288C>T (p.Pro1763Leu)	RYR1 (P1763L)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 1462128	NM_000540.3(RYR1):c.825G>T (p.Trp275Cys)	RYR1 (W275C)	Single nucleotide variant (missense variant)	RYR1-related disorder +5 more	GUncertain significance
Select item 1455334	NM_000540.3(RYR1):c.9905dup (p.Pro3303fs)	RYR1 (P3303fs)	Duplication (frameshift variant)	RYR1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1454292	NM_000540.3(RYR1):c.14130-2A>G	RYR1	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 1 +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)	RYR1-related disorder +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)	RYR1-related disorder +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)	RYR1-related disorder +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)	not provided +6 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)	not provided +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)	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)	RYR1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 1430036	NM_000540.3(RYR1):c.985G>A (p.Asp329Asn)	RYR1 (D329N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1 +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)	RYR1-related disorder +5 more	GUncertain significance
Select item 1421397	NM_000540.3(RYR1):c.9007C>T (p.Leu3003Phe)	RYR1 (L3003F)	Single nucleotide variant (missense variant)	RYR1-related disorder +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)	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)	RYR1-related disorder +5 more	GUncertain significance
Select item 1412777	NM_000540.3(RYR1):c.6860C>A (p.Ala2287Asp)	RYR1 (A2287D)	Single nucleotide variant (missense variant)	RYR1-related disorder +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)	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)	King Denborough syndrome +6 more	GUncertain significance

<< First< Prev

Page of 11