ClinVar for Gene (Select 6261) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235057	NM_000540.3(RYR1):c.4054G>A (p.Ala1352Thr)	RYR1 (A1352T)	Single nucleotide variant (missense variant)	Central core myopathy	GUncertain significance
Select item 3233561	NM_000540.3(RYR1):c.7715C>T (p.Thr2572Ile)	RYR1 (T2572I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157349	NM_000540.3(RYR1):c.9631A>G (p.Asn3211Asp)	RYR1 (N3211D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157348	NM_000540.3(RYR1):c.952T>A (p.Ser318Thr)	RYR1 (S318T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157347	NM_000540.3(RYR1):c.8858A>T (p.Lys2953Met)	RYR1 (K2953M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157346	NM_000540.3(RYR1):c.8474A>G (p.Lys2825Arg)	LOC126862902, RYR1 (K2825R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157345	NM_000540.3(RYR1):c.7822A>C (p.Met2608Leu)	RYR1 (M2608L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157344	NM_000540.3(RYR1):c.7663T>C (p.Cys2555Arg)	RYR1 (C2555R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157343	NM_000540.3(RYR1):c.713A>G (p.Asp238Gly)	RYR1 (D238G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157341	NM_000540.3(RYR1):c.6267C>A (p.Ser2089Arg)	RYR1 (S2089R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157340	NM_000540.3(RYR1):c.5170C>G (p.Arg1724Gly)	RYR1 (R1724G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157337	NM_000540.3(RYR1):c.3553G>A (p.Asp1185Asn)	RYR1 (D1185N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157336	NM_000540.3(RYR1):c.2771C>G (p.Ser924Cys)	RYR1 (S924C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157335	NM_000540.3(RYR1):c.1926C>T (p.Ser642=)	RYR1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3157334	NM_000540.3(RYR1):c.1489A>G (p.Thr497Ala)	LOC129391106, RYR1 (T497A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157333	NM_000540.3(RYR1):c.14836G>A (p.Asp4946Asn)	RYR1 (D4946N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157331	NM_000540.3(RYR1):c.14437C>G (p.His4813Asp)	RYR1 (H4808D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157330	NM_000540.3(RYR1):c.14413T>C (p.Tyr4805His)	RYR1 (Y4800H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157329	NM_000540.3(RYR1):c.13297G>A (p.Gly4433Ser)	LOC130064357, RYR1 (G4433S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157328	NM_000540.3(RYR1):c.12313C>T (p.Pro4105Ser)	RYR1 (P4105S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157327	NM_000540.3(RYR1):c.11980G>A (p.Val3994Met)	RYR1 (V3989M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157326	NM_000540.3(RYR1):c.11603A>G (p.Gln3868Arg)	RYR1 (Q3868R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148962	NM_000540.3(RYR1):c.1289C>A (p.Pro430His)	RYR1 (P430H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3075767	NM_000540.3(RYR1):c.12487C>T (p.Leu4163=)	RYR1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3075499	NM_000540.3(RYR1):c.6078G>T (p.Glu2026Asp)	RYR1 (E2026D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075491	NM_000540.3(RYR1):c.5529G>C (p.Lys1843Asn)	RYR1 (K1843N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075489	NM_000540.3(RYR1):c.3751C>G (p.His1251Asp)	RYR1 (H1251D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075485	NM_000540.3(RYR1):c.2818A>G (p.Met940Val)	RYR1 (M940V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075476	NM_000540.3(RYR1):c.2061C>T (p.Leu687=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075474	NM_000540.3(RYR1):c.7234G>A (p.Glu2412Lys)	RYR1 (E2412K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075472	NM_000540.3(RYR1):c.2214C>T (p.Ala738=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075468	NM_000540.3(RYR1):c.11488A>G (p.Ser3830Gly)	RYR1 (S3825G +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075455	NM_000540.3(RYR1):c.10659G>C (p.Leu3553=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075454	NM_000540.3(RYR1):c.11295G>C (p.Gln3765His)	RYR1 (Q3760H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075445	NM_000540.3(RYR1):c.8132C>T (p.Pro2711Leu)	RYR1 (P2711L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075418	NM_000540.3(RYR1):c.6987G>A (p.Glu2329=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075414	NM_000540.3(RYR1):c.12036G>T (p.Leu4012=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075411	NM_000540.3(RYR1):c.4974G>C (p.Leu1658=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075403	NM_000540.3(RYR1):c.2647C>A (p.Leu883Ile)	RYR1 (L883I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075395	NM_000540.3(RYR1):c.1099C>A (p.Arg367=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075389	NM_000540.3(RYR1):c.15022-5C>T	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075385	NM_000540.3(RYR1):c.14420A>G (p.Asn4807Ser)	RYR1 (N4802S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075375	NM_000540.3(RYR1):c.12184G>A (p.Asp4062Asn)	RYR1 (D4057N +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075374	NM_000540.3(RYR1):c.7804G>A (p.Val2602Ile)	RYR1 (V2602I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075362	NM_000540.3(RYR1):c.4976A>G (p.Gln1659Arg)	RYR1 (Q1659R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075361	NM_000540.3(RYR1):c.8522A>C (p.Lys2841Thr)	LOC126862902, RYR1 (K2841T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075352	NM_000540.3(RYR1):c.706G>A (p.Asp236Asn)	RYR1 (D236N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075347	NM_000540.3(RYR1):c.10194C>A (p.Phe3398Leu)	RYR1 (F3398L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075346	NM_000540.3(RYR1):c.7807A>T (p.Ile2603Phe)	RYR1 (I2603F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075343	NM_000540.3(RYR1):c.14168G>T (p.Arg4723Leu)	RYR1 (R4718L +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075337	NM_000540.3(RYR1):c.6518A>G (p.Gln2173Arg)	RYR1 (Q2173R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075335	NM_000540.3(RYR1):c.7730T>C (p.Ile2577Thr)	RYR1 (I2577T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075319	NM_000540.3(RYR1):c.14452G>A (p.Ala4818Thr)	RYR1 (A4813T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075293	NM_000540.3(RYR1):c.6622A>G (p.Met2208Val)	RYR1 (M2208V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075281	NM_000540.3(RYR1):c.8016G>C (p.Leu2672=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075280	NM_000540.3(RYR1):c.13864G>A (p.Gly4622Ser)	RYR1 (G4617S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075272	NM_000540.3(RYR1):c.637G>C (p.Val213Leu)	RYR1 (V213L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075271	NM_000540.3(RYR1):c.9418C>G (p.Leu3140Val)	RYR1 (L3140V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075268	NM_000540.3(RYR1):c.1600A>G (p.Ser534Gly)	RYR1 (S534G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075266	NM_000540.3(RYR1):c.9977A>G (p.Asn3326Ser)	RYR1 (N3326S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075261	NM_000540.3(RYR1):c.885C>A (p.Asp295Glu)	RYR1 (D295E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075256	NM_000540.3(RYR1):c.2212G>A (p.Ala738Thr)	RYR1 (A738T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075252	NM_000540.3(RYR1):c.10444G>C (p.Gly3482Arg)	RYR1 (G3482R)	Single nucleotide variant (missense variant +1 more)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075251	NM_000540.3(RYR1):c.10445G>T (p.Gly3482Val)	RYR1 (G3482V)	Single nucleotide variant (missense variant +1 more)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075237	NM_000540.3(RYR1):c.11549A>G (p.Asn3850Ser)	RYR1 (N3845S +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075235	NM_000540.3(RYR1):c.9763G>T (p.Gly3255Trp)	RYR1 (G3255W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075225	NM_000540.3(RYR1):c.11152G>A (p.Glu3718Lys)	RYR1 (E3713K +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075223	NM_000540.3(RYR1):c.6121C>T (p.His2041Tyr)	RYR1 (H2041Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075206	NM_000540.3(RYR1):c.8692+1del	RYR1	Deletion (splice donor variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075203	NM_000540.3(RYR1):c.4604G>A (p.Ser1535Asn)	RYR1 (S1535N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075197	NM_000540.3(RYR1):c.6944C>T (p.Ala2315Val)	RYR1 (A2315V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075185	NM_000540.3(RYR1):c.859G>C (p.Gly287Arg)	RYR1 (G287R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075150	NM_000540.3(RYR1):c.1853A>G (p.Asp618Gly)	RYR1 (D618G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075146	NM_000540.3(RYR1):c.3214C>T (p.Arg1072Cys)	RYR1 (R1072C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075145	NM_000540.3(RYR1):c.14173-9C>G	RYR1	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075143	NM_000540.3(RYR1):c.12718A>G (p.Thr4240Ala)	RYR1 (T4235A +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075138	NM_000540.3(RYR1):c.3901C>G (p.Arg1301Gly)	RYR1 (R1301G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075128	NM_000540.3(RYR1):c.4634C>G (p.Thr1545Ser)	RYR1 (T1545S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075127	NM_000540.3(RYR1):c.1473C>A (p.Asp491Glu)	LOC129391106, RYR1 (D491E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075122	NM_000540.3(RYR1):c.6236A>G (p.Lys2079Arg)	RYR1 (K2079R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075121	NM_000540.3(RYR1):c.4222C>T (p.Pro1408Ser)	RYR1 (P1408S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075119	NM_000540.3(RYR1):c.9088C>T (p.His3030Tyr)	RYR1 (H3030Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075118	NM_000540.3(RYR1):c.1667C>T (p.Ser556Leu)	RYR1 (S556L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075116	NM_000540.3(RYR1):c.9372C>T (p.Gly3124=)	RYR1	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 1	GLikely benign
Select item 3075114	NM_000540.3(RYR1):c.10700C>G (p.Pro3567Arg)	RYR1 (P3562R +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075110	NM_000540.3(RYR1):c.10709G>A (p.Arg3570His)	RYR1 (R3565H +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075095	NM_000540.3(RYR1):c.9020A>G (p.Asn3007Ser)	RYR1 (N3007S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075094	NM_000540.3(RYR1):c.14345G>A (p.Gly4782Glu)	RYR1 (G4777E +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075088	NM_000540.3(RYR1):c.13375G>A (p.Asp4459Asn)	RYR1 (D4454N +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075075	NM_000540.3(RYR1):c.10837T>A (p.Tyr3613Asn)	RYR1 (Y3608N +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075072	NM_000540.3(RYR1):c.12427G>A (p.Ala4143Thr)	RYR1 (A4138T +1 more)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075069	NM_000540.3(RYR1):c.3466G>T (p.Glu1156Ter)	RYR1 (E1156*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075060	NM_000540.3(RYR1):c.2786+1G>A	RYR1	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075056	NM_000540.3(RYR1):c.8225C>T (p.Thr2742Ile)	RYR1 (T2742I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance
Select item 3075054	NM_000540.3(RYR1):c.8830A>G (p.Met2944Val)	RYR1 (M2944V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 1	GUncertain significance

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