"GeneDx"[submitter] AND "RYR2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 1180257	NC_000001.11:g.237042069C>G	RYR2	Single nucleotide variant	not provided	GBenign
Select item 671631	NM_001035.2(RYR2):c.-420G>C	RYR2	Single nucleotide variant	not provided	GLikely benign
Select item 1269966	NM_001035.3(RYR2):c.-307C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1224907	NM_001035.3(RYR2):c.-200C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248863	NM_001035.3(RYR2):c.-139C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1238956	NM_001035.3(RYR2):c.-139C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1266852	NM_001035.3(RYR2):c.-128A>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1272476	NM_001035.3(RYR2):c.-109del	RYR2	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1179778	NM_001035.3(RYR2):c.-93C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 201174	NM_001035.3(RYR2):c.-62CCG[6]	RYR2	Microsatellite (5 prime UTR variant)	not specified	GBenign
Select item 296699	NM_001035.3(RYR2):c.-63G>T	RYR2	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1281501	NM_001035.3(RYR2):c.-47A>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 390734	NM_001035.3(RYR2):c.-46G>A	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514469	NM_001035.3(RYR2):c.-37G>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 516259	NM_001035.3(RYR2):c.-32G>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 387957	NM_001035.3(RYR2):c.-30G>C	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 518118	NM_001035.3(RYR2):c.-27C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1712741	NM_001035.3(RYR2):c.2T>C (p.Met1Thr)	RYR2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	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 3070006	NM_001035.3(RYR2):c.20G>A (p.Gly7Asp)	RYR2 (G7D)	Single nucleotide variant (missense variant)	not provided +1 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 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 671444	NM_001035.3(RYR2):c.48+37G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200776	NM_001035.3(RYR2):c.48+104G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668912	NM_001035.3(RYR2):c.49-273C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672066	NM_001035.3(RYR2):c.49-172C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200658	NM_001035.3(RYR2):c.49-156C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387948	NM_001035.3(RYR2):c.49-9C>G	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 510098	NM_001035.3(RYR2):c.49-4G>A	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1321002	NM_001035.3(RYR2):c.49G>A (p.Asp17Asn)	RYR2 (D17N)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GUncertain significance
Select item 926726	NM_001035.3(RYR2):c.95A>C (p.Gln32Pro)	RYR2 (Q32P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 392349	NM_001035.3(RYR2):c.96A>G (p.Gln32=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GLikely benign
Select item 1202051	NM_001035.3(RYR2):c.133A>G (p.Arg45Gly)	RYR2 (R45G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 683744	NM_001035.3(RYR2):c.168+265G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683746	NM_001035.3(RYR2):c.168+335A>T	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683751	NM_001035.3(RYR2):c.169-324C>A	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675301	NM_001035.3(RYR2):c.169-126G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 510901	NM_001035.3(RYR2):c.171T>C (p.Asn57=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
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 201189	NM_001035.3(RYR2):c.218T>G (p.Leu73Arg)	RYR2 (L73R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385975	NM_001035.3(RYR2):c.219C>T (p.Leu73=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 420977	NM_001035.3(RYR2):c.226C>T (p.Arg76Trp)	RYR2 (R76W)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 923928	NM_001035.3(RYR2):c.227G>A (p.Arg76Gln)	RYR2 (R76Q)	Single nucleotide variant (missense variant)	not provided +2 more	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 514202	NM_001035.3(RYR2):c.273+12A>G	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 378482	NM_001035.3(RYR2):c.273+18G>A	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 672919	NM_001035.3(RYR2):c.273+190T>C	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671021	NM_001035.3(RYR2):c.274-128T>A	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671261	NM_001035.3(RYR2):c.274-100G>T	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218387	NM_001035.3(RYR2):c.274-79A>G	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3373443	NM_001035.3(RYR2):c.291del (p.Lys97fs)	RYR2 (K97fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 668304	NM_001035.3(RYR2):c.294+14T>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 227916	NM_001035.3(RYR2):c.294+15G>A	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1179313	NM_001035.3(RYR2):c.294+265G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193125	NM_001035.3(RYR2):c.294+285G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263864	NM_001035.3(RYR2):c.294+329dup	RYR2	Duplication (intron variant)	not provided	GBenign
Select item 671744	NM_001035.3(RYR2):c.295-107A>G	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213179	NM_001035.3(RYR2):c.295-43G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 201191	NM_001035.3(RYR2):c.301A>G (p.Met101Val)	RYR2 (M101V)	Single nucleotide variant (missense variant)	not provided	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 138934	NM_001035.3(RYR2):c.309+7C>T	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1186319	NM_001035.3(RYR2):c.309+39C>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673735	NM_001035.3(RYR2):c.309+138A>G	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671186	NM_001035.3(RYR2):c.309+185G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211853	NM_001035.3(RYR2):c.309+222C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261509	NM_001035.3(RYR2):c.310-71T>G	RYR2	Single nucleotide variant (intron variant)	not provided	GBenign
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 392683	NM_001035.3(RYR2):c.349C>T (p.His117Tyr)	RYR2 (H117Y)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +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 1283959	NM_001035.3(RYR2):c.384+245_384+246del	RYR2	Microsatellite (intron variant)	not provided	GBenign
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)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GBenign/Likely benign
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 3369253	NM_001035.3(RYR2):c.410G>C (p.Arg137Pro)	RYR2 (R137P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810085	NM_001035.3(RYR2):c.440T>C (p.Val147Ala)	RYR2 (V147A)	Single nucleotide variant (missense variant)	not provided	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 43789	NM_001035.3(RYR2):c.463+6dup	RYR2	Duplication	Cardiomyopathy +2 more	GBenign/Likely 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 515596	NM_001035.3(RYR2):c.463+7A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +1 more	GBenign/Likely benign
Select item 384282	NM_001035.3(RYR2):c.463+9C>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 36744	NM_001035.3(RYR2):c.463+10T>C	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 874068	NM_001035.3(RYR2):c.463+14G>A	RYR2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 675864	NM_001035.3(RYR2):c.463+68C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220322	NM_001035.3(RYR2):c.463+150G>A	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1220266	NM_001035.3(RYR2):c.464-261_464-259del	RYR2	Deletion (intron variant)	not provided	GLikely benign
Select item 1204682	NM_001035.3(RYR2):c.464-98C>T	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514114	NM_001035.3(RYR2):c.464-12G>C	RYR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389545	NM_001035.3(RYR2):c.464-12G>A	RYR2	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 43790	NM_001035.3(RYR2):c.464-8A>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GBenign
Select item 1318511	NM_001035.3(RYR2):c.481A>T (p.Thr161Ser)	RYR2 (T161S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 201193	NM_001035.3(RYR2):c.499A>G (p.Lys167Glu)	RYR2 (K167E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 427184	NM_001035.3(RYR2):c.502C>G (p.Gln168Glu)	RYR2 (Q168E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 388718	NM_001035.3(RYR2):c.510A>C (p.Ser170=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign

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