"Revvity Omics, Revvity"[submitter] AND "RYR2"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 928391	NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys)	RYR2 (R389C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 201160	NM_001035.3(RYR2):c.1319C>T (p.Ala440Val)	RYR2 (A440V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 179220	NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)	RYR2 (H608Y)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 178115	NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	RYR2 (R647C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GUncertain significance
Select item 2435638	NM_001035.3(RYR2):c.2029T>G (p.Leu677Val)	RYR2 (L677V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 927498	NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)	RYR2 (T1056M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 43768	NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)	RYR2 (T1107M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 925863	NM_001035.3(RYR2):c.3704G>C (p.Gly1235Ala)	RYR2 (G1235A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1972630	NM_001035.3(RYR2):c.3712C>T (p.Pro1238Ser)	RYR2 (P1238S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2137455	NM_001035.3(RYR2):c.4321G>A (p.Val1441Ile)	RYR2 (V1441I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 167628	NC_000001.11:g.237610838A>G	RYR2	Single nucleotide variant	not provided +1 more	GUncertain significance
Select item 201253	NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)	RYR2 (V1664F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GUncertain significance
Select item 404210	NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	RYR2 (S1765C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 2435636	NM_001035.3(RYR2):c.6235G>A (p.Glu2079Lys)	RYR2 (E2079K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 2435633	NM_001035.3(RYR2):c.6559A>T (p.Ile2187Phe)	RYR2 (I2187F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201387	NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile)	RYR2 (V2306I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 2435637	NM_001035.3(RYR2):c.9054G>T (p.Arg3018Ser)	RYR2 (R3018S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2435635	NM_001035.3(RYR2):c.9059C>A (p.Ser3020Ter)	RYR2 (S3020*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2435634	NM_001035.3(RYR2):c.10757T>C (p.Val3586Ala)	RYR2 (V3586A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2433112	NM_001035.3(RYR2):c.12016T>A (p.Ser4006Thr)	RYR2 (S4006T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2435632	NM_001035.3(RYR2):c.12595G>C (p.Glu4199Gln)	LOC126806068, RYR2 (E4199Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201339	NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val)	LOC126806068, RYR2 (A4203V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 918954	NM_001035.3(RYR2):c.13329-10G>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GConflicting classifications of pathogenicity
Select item 1320925	NM_001035.3(RYR2):c.13583T>C (p.Val4528Ala)	RYR2 (V4528A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 921078	NM_001035.3(RYR2):c.13655A>T (p.His4552Leu)	RYR2 (H4552L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689903	NM_001035.3(RYR2):c.14178G>A (p.Met4726Ile)	RYR2 (M4726I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 925599	NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)	RYR2 (R4790Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 463580	NM_001035.3(RYR2):c.14808+3A>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity

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Items: 30