"Ambry Genetics"[submitter] AND "LOC126806068"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 565988	NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)	LOC126806068, RYR2 (M4139V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2587823	NM_001035.3(RYR2):c.12419G>C (p.Gly4140Ala)	LOC126806068, RYR2 (G4140A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 920547	NM_001035.3(RYR2):c.12435C>T (p.Ile4145=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 519230	NM_001035.3(RYR2):c.12437A>G (p.Glu4146Gly)	LOC126806068, RYR2 (E4146G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 532407	NM_001035.3(RYR2):c.12471A>G (p.Arg4157=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 201183	NM_001035.3(RYR2):c.12492G>A (p.Gln4164=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 201401	NM_001035.3(RYR2):c.12526G>A (p.Val4176Met)	LOC126806068, RYR2 (V4176M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 642361	NM_001035.3(RYR2):c.12530T>A (p.Val4177Asp)	LOC126806068, RYR2 (V4177D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 201334	NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser)	LOC126806068, RYR2 (N4178S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2188183	NM_001035.3(RYR2):c.12534C>T (p.Asn4178=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 959953	NM_001035.3(RYR2):c.12535G>A (p.Glu4179Lys)	LOC126806068, RYR2 (E4179K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 463557	NM_001035.3(RYR2):c.12540C>T (p.Gly4180=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 499175	NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)	LOC126806068, RYR2 (G4181R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 412823	NM_001035.3(RYR2):c.12549A>G (p.Lys4183=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1298463	NM_001035.3(RYR2):c.12552G>A (p.Glu4184=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 1761816	NM_001035.3(RYR2):c.12565T>C (p.Phe4189Leu)	LOC126806068, RYR2 (F4189L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 463559	NM_001035.3(RYR2):c.12579C>T (p.Cys4193=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 380758	NM_001035.3(RYR2):c.12609G>A (p.Ala4203=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 227907	NM_001035.3(RYR2):c.12609G>T (p.Ala4203=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 1763212	NM_001035.3(RYR2):c.12612T>C (p.Ala4204=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 918469	NM_001035.3(RYR2):c.12621G>A (p.Ser4207=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1763370	NM_001035.3(RYR2):c.12626C>T (p.Ser4209Leu)	LOC126806068, RYR2 (S4209L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 263346	NM_001035.3(RYR2):c.12627G>A (p.Ser4209=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2151500	NM_001035.3(RYR2):c.12636C>T (p.Asn4212=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 1172423	NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys)	LOC126806068, RYR2 (E4213K)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1003245	NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly)	LOC126806068, RYR2 (E4213G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1763746	NM_001035.3(RYR2):c.12647C>A (p.Ala4216Glu)	LOC126806068, RYR2 (A4216E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 496089	NM_001035.3(RYR2):c.12648G>A (p.Ala4216=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 924009	NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys)	LOC126806068, RYR2 (E4220K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 919135	NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)	LOC126806068, RYR2 (E4220D)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 227908	NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 201411	NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)	LOC126806068, RYR2 (K4223del)	Deletion (inframe_deletion)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GConflicting classifications of pathogenicity
Select item 749196	NM_001035.3(RYR2):c.12669G>A (p.Lys4223=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 519497	NM_001035.3(RYR2):c.12685C>T (p.Gln4229Ter)	LOC126806068, RYR2 (Q4229*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GUncertain significance
Select item 923238	NM_001035.3(RYR2):c.12693G>A (p.Pro4231=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GLikely benign
Select item 1492959	NM_001035.3(RYR2):c.12697A>G (p.Met4233Val)	LOC126806068, RYR2 (M4233V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 201341	NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr)	LOC126806068, RYR2 (A4234T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 43721	NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 706617	NM_001035.3(RYR2):c.12715C>T (p.Leu4239=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 1765515	NM_001035.3(RYR2):c.12717G>C (p.Leu4239=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 382856	NM_001035.3(RYR2):c.12720G>C (p.Thr4240=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GLikely benign
Select item 1765652	NM_001035.3(RYR2):c.12729G>A (p.Ser4243=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 926443	NM_001035.3(RYR2):c.12747G>A (p.Arg4249=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 155834	NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr)	LOC126806068, RYR2 (M4256T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 700750	NM_001035.3(RYR2):c.12786G>A (p.Lys4262=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1768182	NM_001035.3(RYR2):c.12825C>T (p.Thr4275=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 201184	NM_001035.3(RYR2):c.12826G>A (p.Val4276Met)	LOC126806068, RYR2 (V4276M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 222794	NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile)	LOC126806068, RYR2 (M4279I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 1768510	NM_001035.3(RYR2):c.12840C>T (p.Val4280=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 201185	NM_001035.3(RYR2):c.12858C>T (p.Ser4286=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 165127	NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)	LOC126806068, RYR2 (Y4287H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 1768981	NM_001035.3(RYR2):c.12874A>C (p.Met4292Leu)	LOC126806068, RYR2 (M4292L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1053845	NM_001035.3(RYR2):c.12892G>A (p.Val4298Met)	LOC126806068, RYR2 (V4298M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1769030	NM_001035.3(RYR2):c.12898_12909del (p.Ser4300_Arg4303del)	LOC126806068, RYR2	Deletion (inframe_deletion)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 201186	NM_001035.3(RYR2):c.12917T>C (p.Phe4306Ser)	LOC126806068, RYR2 (F4306S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 191546	NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys)	LOC126806068, RYR2 (R4307C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GConflicting classifications of pathogenicity
Select item 927712	NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)	LOC126806068, RYR2 (R4307H)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1094121	NM_001035.3(RYR2):c.12927T>A (p.Ile4309=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GLikely benign
Select item 412824	NM_001035.3(RYR2):c.12939G>C (p.Leu4313=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 451678	NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)	LOC126806068, RYR2 (G4315E)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 700384	NM_001035.3(RYR2):c.12954C>T (p.Leu4318=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1769184	NM_001035.3(RYR2):c.12956T>A (p.Val4319Asp)	LOC126806068, RYR2 (V4319D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 178126	NM_001035.3(RYR2):c.12957C>T (p.Val4319=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 707417	NM_001035.3(RYR2):c.12960A>G (p.Glu4320=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2587830	NM_001035.3(RYR2):c.12980T>C (p.Val4327Ala)	LOC126806068, RYR2 (V4327A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1769410	NM_001035.3(RYR2):c.13012A>G (p.Thr4338Ala)	LOC126806068, RYR2 (T4338A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2454009	NM_001035.3(RYR2):c.13035T>A (p.Asp4345Glu)	LOC126806068, RYR2 (D4345E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2568273	NM_001035.3(RYR2):c.13038G>A (p.Gly4346=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1769470	NM_001035.3(RYR2):c.13040AGG[1] (p.Glu4348del)	LOC126806068, RYR2 (E4348del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 920754	NM_001035.3(RYR2):c.13044G>A (p.Glu4348=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GLikely benign
Select item 2774400	NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly)	LOC126806068, RYR2 (E4350G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 920510	NM_001035.3(RYR2):c.13065A>G (p.Glu4355=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 514526	NM_001035.3(RYR2):c.13069G>A (p.Ala4357Thr)	LOC126806068, RYR2 (A4357T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 918908	NM_001035.3(RYR2):c.13077C>T (p.Pro4359=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 860684	NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe)	LOC126806068, RYR2 (S4360F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 515485	NM_001035.3(RYR2):c.13080C>T (p.Ser4360=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 2496724	NM_001035.3(RYR2):c.13081G>C (p.Glu4361Gln)	LOC126806068, RYR2 (E4361Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 201343	NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys)	LOC126806068, RYR2 (E4361K)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 619281	NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)	LOC126806068, RYR2 (D4365N)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 3232383	NM_001035.3(RYR2):c.13121A>G (p.Asp4374Gly)	LOC126806068, RYR2 (D4374G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2291964	NM_001035.3(RYR2):c.13122C>A (p.Asp4374Glu)	LOC126806068, RYR2 (D4374E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 43723	NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GConflicting classifications of pathogenicity
Select item 575869	NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)	LOC126806068, RYR2 (K4392R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 463563	NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp)	LOC126806068, RYR2 (N4399D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1769884	NM_001035.3(RYR2):c.13203G>A (p.Gly4401=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 43724	NM_001035.3(RYR2):c.13206C>T (p.Leu4402=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1769886	NM_001035.3(RYR2):c.13207A>G (p.Ser4403Gly)	LOC126806068, RYR2 (S4403G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1171449	NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu)	LOC126806068, RYR2 (M4406L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 518758	NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)	LOC126806068, RYR2 (S4407N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GConflicting classifications of pathogenicity
Select item 1446877	NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)	LOC126806068, RYR2 (V4410A)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 450585	NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)	LOC126806068, RYR2 (P4413T)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 532353	NM_001035.3(RYR2):c.13249G>C (p.Glu4417Gln)	LOC126806068, RYR2 (E4417Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance

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Items: 92