C1832931[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 571526	NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)	RYR2 (A26T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 933457	NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)	RYR2 (T27S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 834835	NM_001035.3(RYR2):c.294+3A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 658783	NM_001035.3(RYR2):c.295A>C (p.Lys99Gln)	RYR2 (K99Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 43774	NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)	RYR2 (R122C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GUncertain significance
Select item 1359967	NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr)	RYR2 (C131Y)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 1436888	NM_001035.3(RYR2):c.596G>T (p.Gly199Val)	RYR2 (G199V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 296704	NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)	RYR2 (Q209E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 43823	NM_001035.3(RYR2):c.719A>G (p.His240Arg)	RYR2 (H240R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 640529	NM_001035.3(RYR2):c.782A>G (p.His261Arg)	RYR2 (H261R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 1677954	NM_001035.3(RYR2):c.808C>T (p.His270Tyr)	RYR2 (H270Y)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 519353	NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)	RYR2 (R272L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GUncertain significance
Select item 1172178	NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)	RYR2 (W275*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 451310	NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	RYR2 (M317T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 93480	NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)	RYR2 (A328T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1043236	NM_001035.3(RYR2):c.995G>A (p.Arg332Gln)	RYR2 (R332Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 567093	NM_001035.3(RYR2):c.1024G>A (p.Val342Met)	RYR2 (V342M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1044625	NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)	RYR2 (G348D)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 839325	NM_001035.3(RYR2):c.1115T>A (p.Leu372His)	RYR2 (L372H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 43713	NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)	RYR2 (Q388R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 178114	NM_001035.3(RYR2):c.1166G>A (p.Arg389His)	RYR2 (R389H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 959866	NM_001035.3(RYR2):c.1179G>A (p.Met393Ile)	RYR2 (M393I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 449305	NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)	RYR2 (S406L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GConflicting classifications of pathogenicity
Select item 846341	NM_001035.3(RYR2):c.1241G>A (p.Arg414His)	RYR2 (R414H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GConflicting classifications of pathogenicity
Select item 201214	NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	RYR2 (R420W)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 378485	NM_001035.3(RYR2):c.1292+19G>A	RYR2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1000627	NM_001035.3(RYR2):c.1316A>C (p.Lys439Thr)	RYR2 (K439T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 180485	NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr)	RYR2 (A440T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1588313	NM_001035.3(RYR2):c.1320G>A (p.Ala440=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 629727	NM_001035.3(RYR2):c.1345A>G (p.Ile449Val)	RYR2 (I449V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 427953	NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	RYR2 (H464Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GConflicting classifications of pathogenicity
Select item 572506	NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)	RYR2 (K475Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 649368	NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys)	RYR2 (R504C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 924877	NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala)	RYR2 (G519A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 918729	NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu)	RYR2 (R520L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 404197	NM_001035.3(RYR2):c.1838T>C (p.Val613Ala)	RYR2 (V613A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 923549	NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)	RYR2 (G622R)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 178115	NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	RYR2 (R647C)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +6 more	GUncertain significance
Select item 923520	NM_001035.3(RYR2):c.1964T>C (p.Met655Thr)	RYR2 (M655T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 926919	NM_001035.3(RYR2):c.2275T>G (p.Leu759Val)	RYR2 (L759V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 238228	NM_001035.3(RYR2):c.2320C>A (p.Pro774Thr)	RYR2 (P774T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 918690	NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)	RYR2 (D785N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 506749	NM_001035.3(RYR2):c.2396+17T>G	RYR2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1013989	NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg)	RYR2 (G806R)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 191480	NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu)	RYR2 (P815L)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 926227	NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly)	RYR2 (A820G)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 201164	NM_001035.3(RYR2):c.2482C>T (p.Pro828Ser)	RYR2 (P828S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 935174	NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)	RYR2 (D849N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 532370	NM_001035.3(RYR2):c.2573C>T (p.Thr858Met)	RYR2 (T858M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 918326	NM_001035.3(RYR2):c.2617G>A (p.Val873Met)	RYR2 (V873M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GUncertain significance
Select item 1409844	NM_001035.3(RYR2):c.2641A>G (p.Ile881Val)	RYR2 (I881V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GUncertain significance
Select item 178117	NM_001035.3(RYR2):c.2755G>A (p.Val919Met)	RYR2 (V919M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 229216	NM_001035.3(RYR2):c.2786G>A (p.Arg929His)	RYR2 (R929H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 404229	NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln)	RYR2 (R1009Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 43764	NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 646519	NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)	RYR2 (P1030L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 449664	NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)	RYR2 (R1055C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 927498	NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)	RYR2 (T1056M)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +6 more	GUncertain significance
Select item 514707	NM_001035.3(RYR2):c.3214+7T>G	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GLikely benign
Select item 928258	NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)	RYR2 (G1082R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 252508	NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)	RYR2 (R1089C)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +4 more	GUncertain significance
Select item 1326630	NM_001035.3(RYR2):c.3304T>G (p.Tyr1102Asp)	RYR2 (Y1102D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 532336	NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)	RYR2 (P1124L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 296719	NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)	RYR2 (A1134S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 1171668	NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu)	RYR2 (D1138E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 574665	NM_001035.3(RYR2):c.3477C>T (p.Gly1159=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 532332	NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)	RYR2 (D1220E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 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 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 574960	NM_001035.3(RYR2):c.3877C>G (p.Gln1293Glu)	LOC126806067, RYR2 (Q1293E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
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 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 201242	NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met)	LOC126806067, RYR2 (T1317M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GConflicting classifications of pathogenicity
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 918855	NM_001035.3(RYR2):c.4161-5T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 427954	NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn)	RYR2 (D1396N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 43782	NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)	RYR2 (S1400G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 201244	NM_001035.3(RYR2):c.4229T>C (p.Leu1410Pro)	RYR2 (L1410P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 505337	NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)	RYR2 (T1425M)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 1349476	NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)	RYR2 (I1432V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 837960	NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)	RYR2 (I1432L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 580627	NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)	RYR2 (R1463C)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1001768	NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)	RYR2 (Y1486C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 178120	NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	RYR2 (C1489R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 926131	NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)	RYR2 (V1511L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 43785	NM_001035.3(RYR2):c.4596+4C>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 876354	NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val)	RYR2 (A1568V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 373788	NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)	RYR2 (P1578R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +7 more	GUncertain significance
Select item 1019767	NM_001035.3(RYR2):c.4910+3C>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 43804	NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)	RYR2 (S1754T)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 1060539	NM_001035.3(RYR2):c.5311A>G (p.Ile1771Val)	RYR2 (I1771V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 925750	NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)	RYR2 (E1837K)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +5 more	GConflicting classifications of pathogenicity
Select item 923717	NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)	RYR2 (I1842T)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +3 more	GUncertain significance
Select item 862746	NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser)	RYR2 (P1848S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 560682	NM_001035.3(RYR2):c.5585A>G (p.Asp1862Gly)	RYR2 (D1862G)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 919024	NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)	RYR2 (E1867A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 191379	NM_001035.3(RYR2):c.5657dup (p.Lys1887fs)	RYR2 (K1887fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 643267	NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)	RYR2 (G1885A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 1315719	NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp)	RYR2 (R1888W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 384704	NM_001035.3(RYR2):c.5664G>C (p.Arg1888=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign

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