"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487620	NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)	LOC126806067, RYR2 (P1256L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 3069957	NM_001035.3(RYR2):c.3787T>C (p.Ser1263Pro)	LOC126806067, RYR2 (S1263P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 2430697	NM_001035.3(RYR2):c.3800A>G (p.His1267Arg)	LOC126806067, RYR2 (H1267R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 920125	NM_001035.3(RYR2):c.3808-5G>C	LOC126806067, RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GConflicting classifications of pathogenicity
Select item 920799	NM_001035.3(RYR2):c.3822C>T (p.Asp1274=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 3074218	NM_001035.3(RYR2):c.3825C>T (p.Gly1275=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 238231	NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)	LOC126806067, RYR2 (T1276I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 3074306	NM_001035.3(RYR2):c.3833A>G (p.Asp1278Gly)	LOC126806067, RYR2 (D1278G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 925399	NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe)	LOC126806067, RYR2 (S1280F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
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 2811750	NM_001035.3(RYR2):c.3840C>T (p.Ser1280=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GConflicting classifications of pathogenicity
Select item 3070281	NM_001035.3(RYR2):c.3843A>T (p.Pro1281=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 43777	NM_001035.3(RYR2):c.3849A>G (p.Leu1283=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign
Select item 3073469	NM_001035.3(RYR2):c.3868T>C (p.Phe1290Leu)	LOC126806067, RYR2 (F1290L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 532318	NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)	LOC126806067, RYR2 (S1295G)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 138943	NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3074387	NM_001035.3(RYR2):c.3890C>A (p.Thr1297Asn)	LOC126806067, RYR2 (T1297N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 924405	NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)	LOC126806067, RYR2 (T1297I)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 518998	NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu)	LOC126806067, RYR2 (D1298E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 921542	NM_001035.3(RYR2):c.3898A>G (p.Met1300Val)	LOC126806067, RYR2 (M1300V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 201380	NM_001035.3(RYR2):c.3899T>C (p.Met1300Thr)	LOC126806067, RYR2 (M1300T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3072648	NM_001035.3(RYR2):c.3907C>T (p.Arg1303Cys)	LOC126806067, RYR2 (R1303C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1445759	NM_001035.3(RYR2):c.3916A>G (p.Met1306Val)	LOC126806067, RYR2 (M1306V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 572992	NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)	LOC126806067, RYR2 (P1307L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 180093	NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GBenign/Likely benign
Select item 699211	NM_001035.3(RYR2):c.3924C>T (p.Ile1308=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 532369	NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val)	LOC126806067, RYR2 (A1311V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 627745	NM_001035.3(RYR2):c.3933G>A (p.Ala1311=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 3073977	NM_001035.3(RYR2):c.3937G>A (p.Val1313Ile)	LOC126806067, RYR2 (V1313I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3074639	NM_001035.3(RYR2):c.3947A>G (p.Lys1316Arg)	LOC126806067, RYR2 (K1316R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 463597	NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)	LOC126806067, RYR2 (T1317A)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 700611	NM_001035.3(RYR2):c.3951G>A (p.Thr1317=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign/Likely benign
Select item 655520	NM_001035.3(RYR2):c.3964C>T (p.Leu1322Phe)	LOC126806067, RYR2 (L1322F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 632975	NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)	LOC126806067, RYR2 (G1324A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 3074633	NM_001035.3(RYR2):c.3973G>T (p.Ala1325Ser)	LOC126806067, RYR2 (A1325S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 227918	NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 3070752	NM_001035.3(RYR2):c.3984T>C (p.Phe1328=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3070277	NM_001035.3(RYR2):c.3985G>A (p.Gly1329Arg)	LOC126806067, RYR2 (G1329R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 923120	NM_001035.3(RYR2):c.3987G>A (p.Gly1329=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GLikely benign
Select item 201243	NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)	LOC126806067, RYR2 (Y1337C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 463598	NM_001035.3(RYR2):c.4020T>A (p.Asp1340Glu)	LOC126806067, RYR2 (D1340E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3073391	NM_001035.3(RYR2):c.4032G>A (p.Glu1344=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 296722	NM_001035.3(RYR2):c.4044G>A (p.Lys1348=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 43778	NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 265837	NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)	LOC126806067, RYR2 (D1357N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 36743	NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)	RYR2, LOC126806067 (D1357H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 854011	NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys)	LOC126806067, RYR2 (R1358C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 1021107	NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)	LOC126806067, RYR2 (R1358H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 629579	NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)	LOC126806067, RYR2 (V1359A)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 922758	NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)	LOC126806067, RYR2 (D1360N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 201170	NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)	LOC126806067, RYR2 (T1366A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 565528	NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)	LOC126806067, RYR2 (T1366N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 707295	NM_001035.3(RYR2):c.4101A>G (p.Lys1367=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 3070469	NM_001035.3(RYR2):c.4115A>G (p.Asn1372Ser)	LOC126806067, RYR2 (N1372S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 922178	NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)	LOC126806067, RYR2 (K1374R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 532411	NM_001035.3(RYR2):c.4143C>T (p.Pro1381=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 3070824	NM_001035.3(RYR2):c.4147C>T (p.Arg1383Cys)	LOC126806067, RYR2 (R1383C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 1284371	NM_001035.3(RYR2):c.4148G>A (p.Arg1383His)	LOC126806067, RYR2 (R1383H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 3074805	NM_001035.3(RYR2):c.4152G>C (p.Leu1384=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia	GLikely benign
Select item 3073804	NM_001035.3(RYR2):c.4160+4A>G	LOC126806067, RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance
Select item 3071037	NM_001035.3(RYR2):c.4160+5del	LOC126806067, RYR2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia	GUncertain significance

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Items: 61