"Ambry Genetics"[submitter] AND "RYR2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1427591	NM_001035.3(RYR2):c.11G>T (p.Gly4Val)	RYR2 (G4V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1332057	NM_001035.3(RYR2):c.13G>T (p.Gly5Cys)	RYR2 (G5C)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1321104	NM_001035.3(RYR2):c.14G>A (p.Gly5Asp)	RYR2 (G5D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 201287	NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)	RYR2 (G7S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 2180076	NM_001035.3(RYR2):c.21C>A (p.Gly7=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GLikely benign
Select item 1491978	NM_001035.3(RYR2):c.29A>C (p.Glu10Ala)	RYR2 (E10A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 201288	NM_001035.3(RYR2):c.32T>C (p.Ile11Thr)	RYR2 (I11T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 532322	NM_001035.3(RYR2):c.36G>C (p.Gln12His)	RYR2 (Q12H)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 201289	NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)	RYR2 (F13L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 238233	NM_001035.3(RYR2):c.40C>T (p.Leu14=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GLikely benign
Select item 1157467	NM_001035.3(RYR2):c.51T>C (p.Asp17=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1677614	NM_001035.3(RYR2):c.70T>G (p.Cys24Gly)	RYR2 (C24G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 923832	NM_001035.3(RYR2):c.75C>T (p.Thr25=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 571526	NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)	RYR2 (A26T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GUncertain significance
Select item 933457	NM_001035.3(RYR2):c.80C>G (p.Thr27Ser)	RYR2 (T27S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 701074	NM_001035.3(RYR2):c.90A>G (p.Lys30=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 532378	NM_001035.3(RYR2):c.94C>A (p.Gln32Lys)	RYR2 (Q32K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 843859	NM_001035.3(RYR2):c.103C>G (p.Leu35Val)	RYR2 (L35V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 641749	NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)	RYR2 (A38T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 1752798	NM_001035.3(RYR2):c.121G>A (p.Gly41Arg)	RYR2 (G41R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 178876	NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)	RYR2 (L49F)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 2587838	NM_001035.3(RYR2):c.153C>G (p.Ser51=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1779372	NM_001035.3(RYR2):c.174G>A (p.Val58=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 519490	NM_001035.3(RYR2):c.175C>T (p.Pro59Ser)	RYR2 (P59S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 201368	NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)	RYR2 (L62F)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 519334	NM_001035.3(RYR2):c.198C>G (p.Thr66=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1787753	NM_001035.3(RYR2):c.220T>C (p.Ser74Pro)	RYR2 (S74P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 404190	NM_001035.3(RYR2):c.230C>T (p.Ala77Val)	RYR2 (A77V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic
Select item 43756	NM_001035.3(RYR2):c.231G>A (p.Ala77=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign/Likely benign
Select item 512805	NM_001035.3(RYR2):c.232C>T (p.Leu78=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GLikely benign
Select item 698554	NM_001035.3(RYR2):c.244C>T (p.Leu82=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1793930	NM_001035.3(RYR2):c.261G>T (p.Glu87Asp)	RYR2 (E87D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1142132	NM_001035.3(RYR2):c.279T>A (p.Val93=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 834835	NM_001035.3(RYR2):c.294+3A>G	RYR2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 2 +4 more	GUncertain significance
Select item 519029	NM_001035.3(RYR2):c.295-5T>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	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 1799236	NM_001035.3(RYR2):c.304A>G (p.Met102Val)	RYR2 (M102V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1172458	NM_001035.3(RYR2):c.309G>A (p.Lys103=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 201149	NM_001035.3(RYR2):c.309+5G>T	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 463594	NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)	RYR2 (G108S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 2568256	NM_001035.3(RYR2):c.332G>A (p.Arg111Gln)	RYR2 (R111Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 947410	NM_001035.3(RYR2):c.340C>G (p.Leu114Val)	RYR2 (L114V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 43771	NM_001035.3(RYR2):c.345C>T (p.Tyr115=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1171306	NM_001035.3(RYR2):c.356T>C (p.Ile119Thr)	RYR2 (I119T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 165069	NM_001035.3(RYR2):c.365G>A (p.Arg122His)	RYR2 (R122H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 43776	NM_001035.3(RYR2):c.375T>C (p.Tyr125=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 263677	NM_001035.3(RYR2):c.383T>C (p.Met128Thr)	RYR2 (M128T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 919149	NM_001035.3(RYR2):c.402C>T (p.Ser134=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 1643413	NM_001035.3(RYR2):c.405C>A (p.Thr135=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 532414	NM_001035.3(RYR2):c.408C>T (p.Ser136=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 924480	NM_001035.3(RYR2):c.409C>T (p.Arg137Trp)	RYR2 (R137W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2454019	NM_001035.3(RYR2):c.420T>G (p.Thr140=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GLikely benign
Select item 3232400	NM_001035.3(RYR2):c.442G>A (p.Gly148Ser)	RYR2 (G148S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 201192	NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)	RYR2 (T153I)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 1741768	NM_001035.3(RYR2):c.459C>T (p.Thr153=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 43788	NM_001035.3(RYR2):c.463+6C>T	RYR2	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43790	NM_001035.3(RYR2):c.464-8A>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 919002	NM_001035.3(RYR2):c.468G>A (p.Glu156=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 519358	NM_001035.3(RYR2):c.485_489dup (p.Pro164fs)	RYR2 (P164fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 918476	NM_001035.3(RYR2):c.489C>A (p.His163Gln)	RYR2 (H163Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1745086	NM_001035.3(RYR2):c.505C>G (p.Arg169Gly)	RYR2 (R169G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 617902	NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)	RYR2 (R169*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 372582	NM_001035.3(RYR2):c.506G>T (p.Arg169Leu)	RYR2 (R169L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 1576517	NM_001035.3(RYR2):c.513A>G (p.Glu171=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1746410	NM_001035.3(RYR2):c.525A>G (p.Val175=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 201195	NM_001035.3(RYR2):c.527G>T (p.Arg176Leu)	RYR2 (R176L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 201194	NM_001035.3(RYR2):c.527G>A (p.Arg176Gln)	RYR2 (R176Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GPathogenic
Select item 3232404	NM_001035.3(RYR2):c.540C>T (p.Asp180=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 629827	NM_001035.3(RYR2):c.555C>T (p.Ser185=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 161382	NM_001035.3(RYR2):c.556G>A (p.Val186Met)	RYR2 (V186M)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 767639	NM_001035.3(RYR2):c.561C>T (p.Ser187=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 863943	NM_001035.3(RYR2):c.569G>A (p.Arg190Lys)	RYR2 (R190K)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 43810	NM_001035.3(RYR2):c.576+7G>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1749599	NM_001035.3(RYR2):c.577C>T (p.His193Tyr)	RYR2 (H193Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1749956	NM_001035.3(RYR2):c.582G>A (p.Leu194=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 179158	NM_001035.3(RYR2):c.594C>T (p.Asn198=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 1750879	NM_001035.3(RYR2):c.598A>G (p.Ser200Gly)	RYR2 (S200G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 496093	NM_001035.3(RYR2):c.601T>C (p.Leu201=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 1751379	NM_001035.3(RYR2):c.606C>T (p.His202=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 412817	NM_001035.3(RYR2):c.615C>T (p.Ala205=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 2568276	NM_001035.3(RYR2):c.623A>G (p.Gln208Arg)	RYR2 (Q208R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 496094	NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)	RYR2 (T210I)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 463617	NM_001035.3(RYR2):c.639C>T (p.Ser213=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 1753378	NM_001035.3(RYR2):c.640G>C (p.Val214Leu)	RYR2 (V214L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 519528	NM_001035.3(RYR2):c.640G>A (p.Val214Met)	RYR2 (V214M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 920584	NM_001035.3(RYR2):c.643G>A (p.Ala215Thr)	RYR2 (A215T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1753742	NM_001035.3(RYR2):c.647C>A (p.Pro216Gln)	RYR2 (P216Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1753998	NM_001035.3(RYR2):c.651C>A (p.Ile217=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 796219	NM_001035.3(RYR2):c.672C>A (p.Ala224=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 43817	NM_001035.3(RYR2):c.677-11T>A	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 43818	NM_001035.3(RYR2):c.684C>T (p.Leu228=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1621372	NM_001035.3(RYR2):c.711G>A (p.Leu237=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GLikely benign
Select item 463628	NM_001035.3(RYR2):c.711G>C (p.Leu237=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 43823	NM_001035.3(RYR2):c.719A>G (p.His240Arg)	RYR2 (H240R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 1757951	NM_001035.3(RYR2):c.725A>T (p.Asp242Val)	RYR2 (D242V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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