C1631597[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 319

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292119	NM_001232.4(CASQ2):c.*929C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 292121	NM_001232.4(CASQ2):c.*503G>A	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292123	NM_001232.4(CASQ2):c.*457C>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 876003	NM_001232.4(CASQ2):c.*332A>T	CASQ2	Single nucleotide variant (3 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 191439	NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn)	CASQ2 (D396N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +5 more	GUncertain significance
Select item 179599	NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)	CASQ2	Microsatellite (inframe_insertion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1387985	NM_001232.4(CASQ2):c.1081T>A (p.Trp361Arg)	CASQ2 (W361R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 1498700	NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu)	CASQ2 (M344L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 292127	NM_001232.4(CASQ2):c.1006G>A (p.Val336Ile)	CASQ2 (V336I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 190747	NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)	CASQ2 (P329S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +4 more	GUncertain significance
Select item 1055546	NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr)	CASQ2 (I324T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 292128	NM_001232.4(CASQ2):c.943G>A (p.Val315Ile)	CASQ2 (V315I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 228247	NM_001232.4(CASQ2):c.940-1G>T	CASQ2	Single nucleotide variant (splice acceptor variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GLikely pathogenic
Select item 519365	NM_001232.4(CASQ2):c.939+1G>T	CASQ2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1147911	NM_001232.4(CASQ2):c.927C>T (p.Asp309=)	CASQ2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 811814	NM_001232.4(CASQ2):c.926A>T (p.Asp309Val)	CASQ2 (D309V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 190755	NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu)	CASQ2 (P308L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GPathogenic/Likely pathogenic
Select item 519436	NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser)	CASQ2 (N298S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 939550	NM_001232.4(CASQ2):c.877C>T (p.Arg293Trp)	CASQ2 (R293W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 574983	NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn)	CASQ2 (I287N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1442304	NM_001232.4(CASQ2):c.793T>G (p.Leu265Val)	CASQ2 (L265V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GUncertain significance
Select item 162812	NM_001232.4(CASQ2):c.758G>A (p.Arg253His)	CASQ2 (R253H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 191442	NM_001232.4(CASQ2):c.752G>A (p.Arg251His)	CASQ2 (R251H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 572954	NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys)	CASQ2 (R250C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GConflicting classifications of pathogenicity
Select item 915585	NM_001232.4(CASQ2):c.738-27dup	CASQ2	Duplication (intron variant)	not provided +3 more	GBenign
Select item 502421	NM_001232.4(CASQ2):c.738-11_738-5del	CASQ2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GBenign/Likely benign
Select item 35772	NM_001232.4(CASQ2):c.731A>G (p.His244Arg)	CASQ2 (H244R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 580505	NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser)	CASQ2 (P231S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 190744	NM_001232.4(CASQ2):c.633G>T (p.Met211Ile)	CASQ2 (M211I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 420366	NM_001232.4(CASQ2):c.615G>T (p.Lys205Asn)	CASQ2 (K205N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 1367739	NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)	CASQ2 (Y192*)	Single nucleotide variant (nonsense)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GPathogenic/Likely pathogenic
Select item 222522	NM_001232.4(CASQ2):c.546del (p.Phe182fs)	CASQ2 (F182fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 190742	NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile)	CASQ2 (S173I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +3 more	GUncertain significance
Select item 190741	NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr)	CASQ2 (I168T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 532351	NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys)	CASQ2 (Y164C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1057873	NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr)	CASQ2 (I161T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292132	NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)	CASQ2 (E159K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 950162	NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu)	CASQ2 (F137L)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 162818	NM_001232.4(CASQ2):c.376G>C (p.Asp126His)	CASQ2 (D126H)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 162820	NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn)	CASQ2 (S113N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 449737	NM_001232.4(CASQ2):c.324TGA[1] (p.Asp109del)	CASQ2 (D109del)	Microsatellite (inframe_deletion)	not provided +2 more	GUncertain significance
Select item 968797	NM_001232.4(CASQ2):c.326A>T (p.Asp109Val)	CASQ2 (D109V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 377624	NM_001232.4(CASQ2):c.320-18C>T	CASQ2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 453032	NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe)	CASQ2 (L79F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 190759	NM_001232.4(CASQ2):c.213del (p.Gln71fs)	CASQ2 (Q71fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 838554	NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe)	CASQ2 (C53F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 862119	NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln)	CASQ2 (R33Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 41043	NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter)	CASQ2 (R33*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 852876	NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys)	CASQ2 (Y28C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 41042	NM_001232.4(CASQ2):c.62del (p.Glu21fs)	CASQ2 (E21fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 2 +1 more	GPathogenic
Select item 292135	NM_001232.4(CASQ2):c.-206_-205dup	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292140	NM_001232.4(CASQ2):c.-212_-211insATGTGT	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 292142	NM_001232.4(CASQ2):c.-219_-218insCGTGTG	CASQ2	Microsatellite	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 292141	NM_001232.4(CASQ2):c.-218delinsCGTGCGTGC	CASQ2	Indel	Catecholaminergic polymorphic ventricular tachycardia +2 more	GUncertain significance
Select item 292145	NM_001232.3(CASQ2):c.-225G>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 2 +2 more	GUncertain significance
Select item 292147	NM_001232.3(CASQ2):c.-234C>A	CASQ2	Single nucleotide variant	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 571526	NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)	RYR2 (A26T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +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)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 658783	NM_001035.3(RYR2):c.295A>C (p.Lys99Gln)	RYR2 (K99Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 43774	NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)	RYR2 (R122C)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GUncertain significance
Select item 1359967	NM_001035.3(RYR2):c.392G>A (p.Cys131Tyr)	RYR2 (C131Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +3 more	GUncertain significance
Select item 1436888	NM_001035.3(RYR2):c.596G>T (p.Gly199Val)	RYR2 (G199V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 296704	NM_001035.3(RYR2):c.625C>G (p.Gln209Glu)	RYR2 (Q209E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	Cardiomyopathy +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)	Cardiomyopathy +6 more	GUncertain significance
Select item 1172178	NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)	RYR2 (W275*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 451310	NM_001035.3(RYR2):c.950T>C (p.Met317Thr)	RYR2 (M317T)	Single nucleotide variant (missense variant)	not provided +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)	Cardiovascular phenotype +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)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +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)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +4 more	GUncertain significance
Select item 839325	NM_001035.3(RYR2):c.1115T>A (p.Leu372His)	RYR2 (L372H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +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 +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)	not specified +5 more	GUncertain significance
Select item 959866	NM_001035.3(RYR2):c.1179G>A (p.Met393Ile)	RYR2 (M393I)	Single nucleotide variant (missense variant)	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome +2 more	GUncertain significance
Select item 449305	NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)	RYR2 (S406L)	Single nucleotide variant (missense variant)	Cardiomyopathy +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)	Cardiomyopathy +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)	Arrhythmogenic right ventricular dysplasia 2 +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)	Catecholaminergic polymorphic ventricular tachycardia 1 +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)	not provided +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)	Arrhythmogenic right ventricular dysplasia 2 +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 1 +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)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 923549	NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)	RYR2 (G622R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 178115	NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	RYR2 (R647C)	Single nucleotide variant (missense variant)	Cardiomyopathy +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)	Arrhythmogenic right ventricular dysplasia 2 +1 more	GUncertain significance
Select item 918690	NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)	RYR2 (D785N)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 506749	NM_001035.3(RYR2):c.2396+17T>G	RYR2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 1013989	NM_001035.3(RYR2):c.2416G>C (p.Gly806Arg)	RYR2 (G806R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance

<< First< Prev

Page of 4