"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC126806067 - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876308	NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)	LOC126806067, RYR2 (P1256T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 487620	NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)	LOC126806067, RYR2 (P1256L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 925178	NM_001035.3(RYR2):c.3785C>T (p.Pro1262Leu)	LOC126806067, RYR2 (P1262L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 412827	NM_001035.3(RYR2):c.3808-10C>T	LOC126806067, RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GLikely benign
Select item 920125	NM_001035.3(RYR2):c.3808-5G>C	LOC126806067, RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +4 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 238231	NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)	LOC126806067, RYR2 (T1276I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 921104	NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro)	LOC126806067, RYR2 (S1280P)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	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 1 +2 more	GUncertain significance
Select item 222786	NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)	LOC126806067, RYR2 (S1280C)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 630105	NM_001035.3(RYR2):c.3845G>A (p.Cys1282Tyr)	LOC126806067, RYR2 (C1282Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 43777	NM_001035.3(RYR2):c.3849A>G (p.Leu1283=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign
Select item 923110	NM_001035.3(RYR2):c.3866C>A (p.Ser1289Tyr)	LOC126806067, RYR2 (S1289Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1332445	NM_001035.3(RYR2):c.3871G>C (p.Gly1291Arg)	LOC126806067, RYR2 (G1291R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 629723	NM_001035.3(RYR2):c.3875C>G (p.Ser1292Cys)	LOC126806067, RYR2 (S1292C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 532318	NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)	LOC126806067, RYR2 (S1295G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 138943	NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	RYR2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 924405	NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)	LOC126806067, RYR2 (T1297I)	Single nucleotide variant (missense variant)	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 201168	NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met)	LOC126806067, RYR2 (I1299M)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 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 296721	NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)	LOC126806067, RYR2 (M1300L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 2194466	NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)	LOC126806067, RYR2 (M1300I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 1331933	NM_001035.3(RYR2):c.3905A>G (p.Tyr1302Cys)	LOC126806067, RYR2 (Y1302C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 572992	NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)	LOC126806067, RYR2 (P1307L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 180093	NM_001035.3(RYR2):c.3921G>A (p.Pro1307=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 699211	NM_001035.3(RYR2):c.3924C>T (p.Ile1308=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 848830	NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr)	LOC126806067, RYR2 (A1311T)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GUncertain significance
Select item 627745	NM_001035.3(RYR2):c.3933G>A (p.Ala1311=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 2774286	NM_001035.3(RYR2):c.3936G>C (p.Glu1312Asp)	LOC126806067, RYR2 (E1312D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2774287	NM_001035.3(RYR2):c.3938TCT[1] (p.Phe1314del)	LOC126806067, RYR2 (F1314del)	Microsatellite (inframe_deletion)	Cardiomyopathy	GUncertain significance
Select item 923824	NM_001035.3(RYR2):c.3946A>G (p.Lys1316Glu)	LOC126806067, RYR2 (K1316E)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 922368	NM_001035.3(RYR2):c.3946_3954delinsGCGAGGA (p.Lys1316fs)	LOC126806067, RYR2 (K1316fs)	Indel (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 463597	NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)	LOC126806067, RYR2 (T1317A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +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 +5 more	GBenign/Likely benign
Select item 1332318	NM_001035.3(RYR2):c.3952G>A (p.Val1318Met)	LOC126806067, RYR2 (V1318M)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1523167	NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr)	LOC126806067, RYR2 (A1319T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 2774288	NM_001035.3(RYR2):c.3968C>G (p.Pro1323Arg)	LOC126806067, RYR2 (P1323R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2774289	NM_001035.3(RYR2):c.3969T>A (p.Pro1323=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 632975	NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)	LOC126806067, RYR2 (G1324A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 919688	NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro)	LOC126806067, RYR2 (A1325P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 919794	NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp)	LOC126806067, RYR2 (G1326D)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 227918	NM_001035.3(RYR2):c.3978C>G (p.Gly1326=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GLikely benign
Select item 1331860	NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro)	LOC126806067, RYR2 (L1327P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 923120	NM_001035.3(RYR2):c.3987G>A (p.Gly1329=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 918593	NM_001035.3(RYR2):c.3997G>A (p.Asp1333Asn)	LOC126806067, RYR2 (D1333N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 924947	NM_001035.3(RYR2):c.4010ATG[1] (p.Asp1338del)	LOC126806067, RYR2 (D1338del)	Microsatellite (inframe_deletion)	Cardiomyopathy	GUncertain significance
Select item 201243	NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)	LOC126806067, RYR2 (Y1337C)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 928104	NM_001035.3(RYR2):c.4015del (p.Ala1339fs)	LOC126806067, RYR2 (A1339fs)	Deletion (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 36742	NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)	LOC126806067, RYR2 (M1347R)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +1 more	GConflicting classifications of pathogenicity
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 2723784	NM_001035.3(RYR2):c.4053T>C (p.His1351=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 927060	NM_001035.3(RYR2):c.4058A>G (p.His1353Arg)	LOC126806067, RYR2 (H1353R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 920629	NM_001035.3(RYR2):c.4068C>A (p.Pro1356=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 43778	NM_001035.3(RYR2):c.4068C>T (p.Pro1356=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +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)	LOC126806067, RYR2 (D1357H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +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 2774290	NM_001035.3(RYR2):c.4073G>T (p.Arg1358Leu)	LOC126806067, RYR2 (R1358L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1021107	NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)	LOC126806067, RYR2 (R1358H)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 629579	NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)	LOC126806067, RYR2 (V1359A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 922758	NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)	LOC126806067, RYR2 (D1360N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 921749	NM_001035.3(RYR2):c.4093G>A (p.Ala1365Thr)	LOC126806067, RYR2 (A1365T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 201381	NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val)	LOC126806067, RYR2 (A1365V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 201170	NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)	LOC126806067, RYR2 (T1366A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign/Likely benign
Select item 1037391	NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser)	LOC126806067, RYR2 (F1370S)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 918911	NM_001035.3(RYR2):c.4113C>T (p.Asn1371=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 922178	NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)	LOC126806067, RYR2 (K1374R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 43779	NM_001035.3(RYR2):c.4125T>C (p.Asp1375=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2203007	NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)	LOC126806067, RYR2 (A1377V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance

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Items: 72