"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 169

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 378483	NM_001035.3(RYR2):c.385-9A>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign/Likely benign
Select item 43788	NM_001035.3(RYR2):c.463+6C>T	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 384282	NM_001035.3(RYR2):c.463+9C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 43810	NM_001035.3(RYR2):c.576+7G>C	RYR2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 412817	NM_001035.3(RYR2):c.615C>T (p.Ala205=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 165072	NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	RYR2 (I217V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43818	NM_001035.3(RYR2):c.684C>T (p.Leu228=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 626375	NM_001035.3(RYR2):c.710T>C (p.Leu237Pro)	RYR2 (L237P)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 138935	NM_001035.3(RYR2):c.726C>T (p.Asp242=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GBenign/Likely benign
Select item 296705	NM_001035.3(RYR2):c.828A>G (p.Arg276=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 463649	NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)	RYR2 (R298C)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1044625	NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)	RYR2 (G348D)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 138936	NM_001035.3(RYR2):c.1053A>G (p.Thr351=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 36730	NM_001035.3(RYR2):c.1134C>T (p.Asp378=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 138937	NM_001035.3(RYR2):c.1218G>A (p.Ser406=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 201214	NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	RYR2 (R420W)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 463568	NM_001035.3(RYR2):c.1354G>A (p.Val452Ile)	RYR2 (V452I)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 427953	NM_001035.3(RYR2):c.1392C>A (p.His464Gln)	RYR2 (H464Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 201374	NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)	RYR2 (R485Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43747	NM_001035.3(RYR2):c.1476+4C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 43748	NM_001035.3(RYR2):c.1477-11dup	RYR2	Duplication	not specified +2 more	GBenign/Likely benign
Select item 1329439	NM_001035.3(RYR2):c.1691G>A (p.Arg564Lys)	RYR2 (R564K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 36737	NM_001035.3(RYR2):c.1863C>T (p.His621=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 43755	NM_001035.3(RYR2):c.2046A>G (p.Thr682=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 36738	NM_001035.3(RYR2):c.2204-7C>G	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign/Likely benign
Select item 93477	NM_001035.3(RYR2):c.2301G>T (p.Ser767=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 43758	NM_001035.3(RYR2):c.2397-6C>T	RYR2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 201165	NM_001035.3(RYR2):c.2574G>A (p.Thr858=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43761	NM_001035.3(RYR2):c.2719-4T>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 43762	NM_001035.3(RYR2):c.2760G>A (p.Glu920=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 378486	NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 43764	NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 201379	NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp)	RYR2 (R1013W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 161381	NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	RYR2 (R1013Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43766	NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 93478	NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 850093	NM_001035.3(RYR2):c.3208G>C (p.Asp1070His)	RYR2 (D1070H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 737122	NM_001035.3(RYR2):c.3267T>C (p.Arg1089=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GLikely benign
Select item 196110	NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)	RYR2 (R1119H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 43769	NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)	RYR2 (E1127G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43770	NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val)	RYR2 (A1136V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 384453	NM_001035.3(RYR2):c.3423+6T>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GConflicting classifications of pathogenicity
Select item 43772	NM_001035.3(RYR2):c.3537T>C (p.Gly1179=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 201167	NM_001035.3(RYR2):c.3720C>T (p.Ala1240=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 43775	NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)	RYR2 (V1241I)	Single nucleotide variant (missense variant)	not specified +5 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)	not provided +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)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 632975	NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)	LOC126806067, RYR2 (G1324A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
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 626376	NM_001035.3(RYR2):c.4276-9T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 387848	NM_001035.3(RYR2):c.4368C>G (p.Gly1456=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 915792	NM_001035.3(RYR2):c.4428G>A (p.Val1476=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 178120	NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)	RYR2 (C1489R)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43787	NM_001035.3(RYR2):c.4605G>A (p.Pro1535=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign/Likely benign
Select item 626377	NM_001035.3(RYR2):c.4635A>C (p.Ala1545=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 43795	NM_001035.3(RYR2):c.4740G>A (p.Pro1580=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 419965	NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)	RYR2 (P1583S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 626378	NM_001035.3(RYR2):c.4815G>A (p.Lys1605=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 626379	NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 201252	NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)	RYR2 (S1638T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +4 more	GUncertain significance
Select item 915793	NM_001035.3(RYR2):c.4938G>C (p.Glu1646Asp)	RYR2 (E1646D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 43797	NM_001035.3(RYR2):c.4989C>T (p.Ala1663=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GBenign/Likely benign
Select item 43798	NM_001035.3(RYR2):c.5001T>C (p.Leu1667=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 532397	NM_001035.3(RYR2):c.5127C>A (p.Ile1709=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 43800	NM_001035.3(RYR2):c.5154G>A (p.Arg1718=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 629648	NM_001035.3(RYR2):c.5241C>G (p.Gly1747=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign/Likely benign
Select item 404210	NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys)	RYR2 (S1765C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GConflicting classifications of pathogenicity
Select item 36745	NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 138946	NM_001035.3(RYR2):c.5613C>T (p.Asp1871=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 229221	NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)	RYR2 (R1919W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 626621	NM_001035.3(RYR2):c.5916+9A>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 191483	NM_001035.3(RYR2):c.5923A>G (p.Met1975Val)	RYR2 (M1975V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1329440	NM_001035.3(RYR2):c.6144T>C (p.Val2048=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 263982	NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)	RYR2 (G2094S)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 43813	NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)	RYR2 (V2113M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 404214	NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)	RYR2 (T2116A)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 919585	NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)	RYR2 (R2144C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GConflicting classifications of pathogenicity
Select item 167629	NM_001035.3(RYR2):c.6555+6G>A	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 43815	NM_001035.3(RYR2):c.6555+8C>G	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 12954	NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)	RYR2 (S2246L)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 43820	NM_001035.3(RYR2):c.6928+4G>A	RYR2	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 915530	NM_001035.3(RYR2):c.7000G>A (p.Ala2334Thr)	RYR2 (A2334T)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 626622	NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr)	RYR2 (I2351T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 412821	NM_001035.3(RYR2):c.7062C>T (p.Ala2354=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 36748	NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 263777	NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GConflicting classifications of pathogenicity
Select item 915531	NM_001035.3(RYR2):c.7459_7470del (p.Leu2487_Val2490del)	RYR2	Deletion (inframe_deletion)	Cardiomyopathy	GLikely pathogenic
Select item 36749	NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 161380	NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)	RYR2 (A2498V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 875459	NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)	RYR2 (T2510A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 915532	NM_001035.3(RYR2):c.7575G>A (p.Leu2525=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 43826	NM_001035.3(RYR2):c.7619A>G (p.His2540Arg)	RYR2 (H2540R)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 180497	NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	RYR2 (E2715D)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 43828	NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr)	RYR2 (I2721T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 180498	NM_001035.3(RYR2):c.8209-4T>C	RYR2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 201285	NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)	RYR2 (R2803Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 43832	NM_001035.3(RYR2):c.8437-7dup	RYR2	Duplication	Arrhythmogenic right ventricular cardiomyopathy +5 more	GBenign/Likely benign
Select item 43833	NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 626380	NM_001035.3(RYR2):c.8692A>G (p.Ile2898Val)	RYR2 (I2898V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 505165	NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 2