"Blueprint Genetics"[submitter] AND "RYR2"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165069	NM_001035.3(RYR2):c.365G>A (p.Arg122His)	RYR2 (R122H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 222783	NM_001035.3(RYR2):c.378T>A (p.Ser126Arg)	RYR2 (S126R)	Single nucleotide variant (missense variant)	Cardiac arrest	GUncertain significance
Select item 201194	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	RYR2 (R176Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic
Select item 222784	NM_001035.3(RYR2):c.1238C>T (p.Ser413Leu)	RYR2 (S413L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 180485	NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)	RYR2 (A440T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 201374	NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)	RYR2 (R485Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 222785	NM_001035.3(RYR2):c.1604A>G (p.Glu535Gly)	RYR2 (E535G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
Select item 180486	NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu)	RYR2 (S616L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely pathogenic
Select item 180487	NM_001035.3(RYR2):c.2203+3_2203+4dup	RYR2	Duplication (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 36739	NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	RYR2 (S756N)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 180488	NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)	RYR2 (G797R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 180489	NM_001035.3(RYR2):c.2630A>C (p.His877Pro)	RYR2 (H877P)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 180490	NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn)	RYR2 (S984N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 180491	NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala)	RYR2 (T1017A)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180492	NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys)	RYR2 (R1027K)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 36740	NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)	RYR2 (R1084K)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 180493	NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)	RYR2 (E1091K)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
Select item 222786	NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)	LOC126806067, RYR2 (S1280C)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GUncertain significance
Select item 155831	NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)	RYR2 (M1564I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 165099	NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser)	RYR2 (N1669S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 222787	NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn)	RYR2 (S1735N)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 180494	NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)	RYR2 (R1807Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 222788	NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln)	RYR2 (R1888Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 180495	NM_001035.3(RYR2):c.5732A>T (p.Gln1911Leu)	RYR2 (Q1911L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 222789	NM_001035.3(RYR2):c.6022+5G>A	RYR2	Single nucleotide variant (intron variant)	Heart disease +4 more	GUncertain significance
Select item 222790	NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu)	RYR2 (R2068L)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 155832	NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)	RYR2 (G2145R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 180496	NM_001035.3(RYR2):c.6793-4G>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 201279	NM_001035.3(RYR2):c.7202G>A (p.Arg2401His)	RYR2 (R2401H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 222791	NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val)	RYR2 (A2673V)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 180497	NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	RYR2 (E2715D)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 180498	NM_001035.3(RYR2):c.8209-4T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 180499	NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg)	RYR2 (G3118R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 180500	NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser)	RYR2 (N3308S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GLikely benign
Select item 190999	NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu)	RYR2 (S3349L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 222792	NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)	RYR2 (L3366F)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 222793	NM_001035.3(RYR2):c.10471C>G (p.Leu3491Val)	RYR2 (L3491V)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy	GUncertain significance
Select item 180501	NM_001035.3(RYR2):c.10766A>C (p.Lys3589Thr)	RYR2 (K3589T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 155833	NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys)	RYR2 (Y3857C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180502	NM_001035.3(RYR2):c.12325A>G (p.Met4109Val)	RYR2 (M4109V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 180503	NM_001035.3(RYR2):c.12379A>C (p.Asn4127His)	RYR2 (N4127H)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
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 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 222795	NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)	LOC126806068, RYR2 (S4377L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 222798	NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)	RYR2 (E4428del)	Microsatellite (inframe_deletion)	Primary familial hypertrophic cardiomyopathy +6 more	GUncertain significance
Select item 222796	NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter)	RYR2 (K4429*)	Single nucleotide variant (nonsense)	Primary familial hypertrophic cardiomyopathy	GUncertain significance
Select item 43725	NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)	RYR2 (A4510T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GConflicting classifications of pathogenicity
Select item 180504	NM_001035.3(RYR2):c.13759A>C (p.Ile4587Leu)	RYR2 (I4587L)	Single nucleotide variant (missense variant)	Cardiac arrest	GUncertain significance
Select item 12961	NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)	RYR2 (V4653F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GPathogenic
Select item 222797	NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys)	RYR2 (W4724C)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 180505	NM_001035.3(RYR2):c.14565T>G (p.Ile4855Met)	RYR2 (I4855M)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic
Select item 180506	NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys)	RYR2 (Q4879K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 180507	NM_001035.3(RYR2):c.14726C>T (p.Thr4909Ile)	RYR2 (T4909I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely pathogenic

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Items: 54