"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517525	NM_001035.2(RYR2):c.(?_49)_(168_?)del	RYR2	Deletion	not specified	GUncertain significance
Select item 178876	NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)	RYR2 (L49F)	Single nucleotide variant (missense variant)	Cardiac arrhythmia +5 more	GUncertain significance
Select item 228290	NM_001035.2(RYR2):c.(?_169)_(273_?)del	RYR2	Deletion	Catecholaminergic polymorphic ventricular tachycardia	GLikely pathogenic
Select item 227914	NM_001035.3(RYR2):c.186C>T (p.Leu62=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 43756	NM_001035.3(RYR2):c.231G>A (p.Ala77=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 229217	NM_001035.3(RYR2):c.281A>T (p.Asp94Val)	RYR2 (D94V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 227916	NM_001035.3(RYR2):c.294+15G>A	RYR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 179903	NM_001035.3(RYR2):c.308A>C (p.Lys103Thr)	RYR2 (K103T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 138934	NM_001035.3(RYR2):c.309+7C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign
Select item 43771	NM_001035.3(RYR2):c.345C>T (p.Tyr115=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 43774	NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)	RYR2 (R122C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GUncertain significance
Select item 165069	NM_001035.3(RYR2):c.365G>A (p.Arg122His)	RYR2 (R122H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 43776	NM_001035.3(RYR2):c.375T>C (p.Tyr125=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 178113	NM_001035.3(RYR2):c.385-14T>C	RYR2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 378483	NM_001035.3(RYR2):c.385-9A>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 43789	NM_001035.3(RYR2):c.463+6dup	RYR2	Duplication	not specified +2 more	GBenign/Likely benign
Select item 43788	NM_001035.3(RYR2):c.463+6C>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 43790	NM_001035.3(RYR2):c.464-8A>C	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign
Select item 43801	NM_001035.3(RYR2):c.506G>A (p.Arg169Gln)	RYR2 (R169Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic/Likely pathogenic
Select item 43808	NM_001035.3(RYR2):c.570G>T (p.Arg190Ser)	RYR2 (R190S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 43810	NM_001035.3(RYR2):c.576+7G>C	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GBenign/Likely benign
Select item 179158	NM_001035.3(RYR2):c.594C>T (p.Asn198=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 165072	NM_001035.3(RYR2):c.649A>G (p.Ile217Val)	RYR2 (I217V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43817	NM_001035.3(RYR2):c.677-11T>A	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign
Select item 43818	NM_001035.3(RYR2):c.684C>T (p.Leu228=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 43823	NM_001035.3(RYR2):c.719A>G (p.His240Arg)	RYR2 (H240R)	Single nucleotide variant (missense variant)	not specified +6 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 +4 more	GBenign/Likely benign
Select item 504535	NM_001035.3(RYR2):c.774-14G>T	RYR2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 201371	NM_001035.3(RYR2):c.848+1G>A	RYR2	Single nucleotide variant (splice donor variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
Select item 43834	NM_001035.3(RYR2):c.849-8T>C	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign
Select item 229228	NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)	RYR2 (R332W)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 43842	NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)	RYR2 (S333F)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GConflicting classifications of pathogenicity
Select item 179775	NM_001035.3(RYR2):c.1005+13A>G	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 138936	NM_001035.3(RYR2):c.1053A>G (p.Thr351=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GBenign/Likely benign
Select item 227906	NM_001035.3(RYR2):c.1056T>C (p.Ser352=)	RYR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 180055	NM_001035.3(RYR2):c.1077A>G (p.Ser359=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 36730	NM_001035.3(RYR2):c.1134C>T (p.Asp378=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 43708	NM_001035.3(RYR2):c.1135G>A (p.Val379Met)	RYR2 (V379M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GLikely benign
Select item 43710	NM_001035.3(RYR2):c.1143C>T (p.Ser381=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 43713	NM_001035.3(RYR2):c.1163A>G (p.Gln388Arg)	RYR2 (Q388R)	Single nucleotide variant (missense variant)	not specified +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)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 179354	NM_001035.3(RYR2):c.1170+15A>G	RYR2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 165077	NM_001035.3(RYR2):c.1197G>A (p.Met399Ile)	RYR2 (M399I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 138937	NM_001035.3(RYR2):c.1218G>A (p.Ser406=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GBenign/Likely benign
Select item 463554	NM_001035.3(RYR2):c.1243A>G (p.Thr415Ala)	RYR2 (T415A)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 201214	NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)	RYR2 (R420W)	Single nucleotide variant (missense variant)	Ventricular fibrillation +6 more	GConflicting classifications of pathogenicity
Select item 138939	NM_001035.3(RYR2):c.1296C>A (p.Gly432=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign/Likely benign
Select item 12959	NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)	RYR2 (L433P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GPathogenic
Select item 43728	NM_001035.3(RYR2):c.1359C>T (p.Ser453=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign
Select item 43744	NM_001035.3(RYR2):c.1446G>A (p.Leu482=)	RYR2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 43747	NM_001035.3(RYR2):c.1476+4C>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +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 43749	NM_001035.3(RYR2):c.1477-11del	RYR2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GBenign/Likely benign
Select item 227912	NM_001035.3(RYR2):c.1477-8C>T	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 227913	NM_001035.3(RYR2):c.1518C>T (p.His506=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 43750	NM_001035.3(RYR2):c.1519G>A (p.Val507Ile)	RYR2 (V507I)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 43751	NM_001035.3(RYR2):c.1548T>C (p.Asp516=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 36736	NM_001035.3(RYR2):c.1611G>A (p.Leu537=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 179814	NM_001035.3(RYR2):c.1612+13A>G	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43752	NM_001035.3(RYR2):c.1612+14T>C	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GBenign
Select item 43753	NM_001035.3(RYR2):c.1776A>T (p.Gly592=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 179220	NM_001035.3(RYR2):c.1822C>T (p.His608Tyr)	RYR2 (H608Y)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43754	NM_001035.3(RYR2):c.1837G>A (p.Val613Ile)	RYR2 (V613I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 36737	NM_001035.3(RYR2):c.1863C>T (p.His621=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 178115	NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)	RYR2 (R647C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GUncertain significance
Select item 43755	NM_001035.3(RYR2):c.2046A>G (p.Thr682=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign/Likely benign
Select item 179430	NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg)	RYR2 (G702R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GUncertain significance
Select item 36738	NM_001035.3(RYR2):c.2204-7C>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 36739	NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	RYR2 (S756N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GConflicting classifications of pathogenicity
Select item 93477	NM_001035.3(RYR2):c.2301G>T (p.Ser767=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +6 more	GBenign/Likely benign
Select item 43757	NM_001035.3(RYR2):c.2334G>A (p.Met778Ile)	RYR2 (M778I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 227915	NM_001035.3(RYR2):c.2396+12T>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 43758	NM_001035.3(RYR2):c.2397-6C>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GBenign
Select item 43759	NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)	RYR2 (R801L)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 165082	NM_001035.3(RYR2):c.2562A>G (p.Thr854=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GLikely benign
Select item 179436	NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys)	RYR2 (Y904C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 229215	NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)	RYR2 (P906A)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 43760	NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)	RYR2 (P906L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 43761	NM_001035.3(RYR2):c.2719-4T>A	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 178117	NM_001035.3(RYR2):c.2755G>A (p.Val919Met)	RYR2 (V919M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43762	NM_001035.3(RYR2):c.2760G>A (p.Glu920=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 229216	NM_001035.3(RYR2):c.2786G>A (p.Arg929His)	RYR2 (R929H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 179675	NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)	RYR2 (M935I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GUncertain significance
Select item 517471	NM_001035.3(RYR2):c.2871T>C (p.Ala957=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 229218	NM_001035.3(RYR2):c.2881G>T (p.Val961Leu)	RYR2 (V961L)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 178118	NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser)	RYR2 (A979S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43763	NM_001035.3(RYR2):c.2973A>G (p.Ser991=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GBenign
Select item 43764	NM_001035.3(RYR2):c.3030T>C (p.Asp1010=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 161381	NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)	RYR2 (R1013Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 178116	NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 178673	NM_001035.3(RYR2):c.3067-16_3067-15del	RYR2	Deletion (intron variant)	not specified +4 more	GLikely benign
Select item 179545	NM_001035.3(RYR2):c.3128A>G (p.Lys1043Arg)	RYR2 (K1043R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 201235	NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys)	RYR2 (R1051C)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +7 more	GConflicting classifications of pathogenicity
Select item 43765	NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)	RYR2 (R1051H)	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 179911	NM_001035.3(RYR2):c.3225C>T (p.Ala1075=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 43767	NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala)	RYR2 (V1077A)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 179587	NM_001035.3(RYR2):c.3238G>A (p.Gly1080Ser)	RYR2 (G1080S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 36740	NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys)	RYR2 (R1084K)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 43768	NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met)	RYR2 (T1107M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity

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