"Color Diagnostics, LLC DBA Color Health"[submitter] AND "RYR2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874067	NM_001035.3(RYR2):c.-15A>G	RYR2	Single nucleotide variant (5 prime UTR variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GUncertain significance
Select item 2774228	NM_001035.3(RYR2):c.-13G>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1332341	NM_001035.3(RYR2):c.-10G>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 918293	NM_001035.3(RYR2):c.-7C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 927379	NM_001035.3(RYR2):c.-2C>A	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 1332322	NM_001035.3(RYR2):c.-1C>T	RYR2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 919946	NM_001035.3(RYR2):c.4G>T (p.Ala2Ser)	RYR2 (A2S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1427591	NM_001035.3(RYR2):c.11G>T (p.Gly4Val)	RYR2 (G4V)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +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 201287	NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)	RYR2 (G7S)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GConflicting classifications of pathogenicity
Select item 532322	NM_001035.3(RYR2):c.36G>C (p.Gln12His)	RYR2 (Q12H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 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 +4 more	GLikely benign
Select item 920006	NM_001035.3(RYR2):c.46A>G (p.Thr16Ala)	RYR2 (T16A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2054848	NM_001035.3(RYR2):c.48T>C (p.Thr16=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 764835	NM_001035.3(RYR2):c.49-10C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 2774229	NM_001035.3(RYR2):c.49-9C>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 922402	NM_001035.3(RYR2):c.49-8C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 927605	NM_001035.3(RYR2):c.71G>A (p.Cys24Tyr)	RYR2 (C24Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 923832	NM_001035.3(RYR2):c.75C>T (p.Thr25=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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 +5 more	GUncertain significance
Select item 918279	NM_001035.3(RYR2):c.84C>A (p.Ile28=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2774230	NM_001035.3(RYR2):c.86A>G (p.His29Arg)	RYR2 (H29R)	Single nucleotide variant (missense variant)	Cardiomyopathy	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 926726	NM_001035.3(RYR2):c.95A>C (p.Gln32Pro)	RYR2 (Q32P)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GUncertain significance
Select item 927244	NM_001035.3(RYR2):c.102G>A (p.Lys34=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 922922	NM_001035.3(RYR2):c.108C>T (p.Cys36=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 926265	NM_001035.3(RYR2):c.110T>C (p.Leu37Ser)	RYR2 (L37S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 925199	NM_001035.3(RYR2):c.112G>T (p.Ala38Ser)	RYR2 (A38S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 641749	NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)	RYR2 (A38T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 924796	NM_001035.3(RYR2):c.125T>G (p.Phe42Cys)	RYR2 (F42C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 629486	NM_001035.3(RYR2):c.137T>C (p.Leu46Pro)	RYR2 (L46P)	Single nucleotide variant (missense variant)	Cardiomyopathy	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 2774231	NM_001035.3(RYR2):c.156T>C (p.Thr52=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1172272	NM_001035.3(RYR2):c.167A>C (p.Lys56Thr)	RYR2 (K56T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 924539	NM_001035.3(RYR2):c.169-2A>C	RYR2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 2774232	NM_001035.3(RYR2):c.170A>G (p.Asn57Ser)	RYR2 (N57S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
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 1332635	NM_001035.3(RYR2):c.177C>T (p.Pro59=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 2774233	NM_001035.3(RYR2):c.179C>G (p.Pro60Arg)	RYR2 (P60R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1172090	NM_001035.3(RYR2):c.180A>C (p.Pro60=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +1 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 227914	NM_001035.3(RYR2):c.186C>T (p.Leu62=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1331771	NM_001035.3(RYR2):c.204G>C (p.Val68=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2774234	NM_001035.3(RYR2):c.208G>A (p.Glu70Lys)	RYR2 (E70K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 922514	NM_001035.3(RYR2):c.223G>A (p.Val75Ile)	RYR2 (V75I)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 420977	NM_001035.3(RYR2):c.226C>T (p.Arg76Trp)	RYR2 (R76W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 923928	NM_001035.3(RYR2):c.227G>A (p.Arg76Gln)	RYR2 (R76Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 43756	NM_001035.3(RYR2):c.231G>A (p.Ala77=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GLikely benign
Select item 2774235	NM_001035.3(RYR2):c.255C>T (p.Thr85=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 925012	NM_001035.3(RYR2):c.256G>A (p.Val86Met)	RYR2 (V86M)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 920750	NM_001035.3(RYR2):c.272G>A (p.Gly91Glu)	RYR2 (G91E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 922340	NM_001035.3(RYR2):c.274-5C>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 925078	NM_001035.3(RYR2):c.274-3C>T	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1332640	NM_001035.3(RYR2):c.283G>A (p.Val95Met)	RYR2 (V95M)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 629284	NM_001035.3(RYR2):c.284T>A (p.Val95Glu)	RYR2 (V95E)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1332410	NM_001035.3(RYR2):c.292del (p.Trp98fs)	RYR2 (W98fs)	Deletion (frameshift variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 2732861	NM_001035.3(RYR2):c.295-9C>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GConflicting classifications of pathogenicity
Select item 463592	NM_001035.3(RYR2):c.295-8C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GLikely benign
Select item 926139	NM_001035.3(RYR2):c.295-6C>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 1172211	NM_001035.3(RYR2):c.295-2A>C	RYR2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 924481	NM_001035.3(RYR2):c.306G>A (p.Met102Ile)	RYR2 (M102I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1172458	NM_001035.3(RYR2):c.309G>A (p.Lys103=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GUncertain significance
Select item 1332179	NM_001035.3(RYR2):c.309+1G>A	RYR2	Single nucleotide variant (splice donor variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1171154	NM_001035.3(RYR2):c.309+5G>A	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 404217	NM_001035.3(RYR2):c.310A>T (p.Thr104Ser)	RYR2 (T104S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 463594	NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)	RYR2 (G108S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 238230	NM_001035.3(RYR2):c.336A>G (p.Thr112=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 43771	NM_001035.3(RYR2):c.345C>T (p.Tyr115=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GBenign/Likely benign
Select item 2774236	NM_001035.3(RYR2):c.346G>A (p.Gly116Arg)	RYR2 (G116R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GUncertain significance
Select item 927983	NM_001035.3(RYR2):c.348A>G (p.Gly116=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +2 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)	Arrhythmogenic right ventricular dysplasia 2 +7 more	GUncertain significance
Select item 165069	NM_001035.3(RYR2):c.365G>A (p.Arg122His)	RYR2 (R122H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 928437	NM_001035.3(RYR2):c.372C>T (p.Ser124=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 752615	NM_001035.3(RYR2):c.372C>G (p.Ser124=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 43776	NM_001035.3(RYR2):c.375T>C (p.Tyr125=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 1331765	NM_001035.3(RYR2):c.377G>T (p.Ser126Ile)	RYR2 (S126I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2774237	NM_001035.3(RYR2):c.380G>C (p.Gly127Ala)	RYR2 (G127A)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2420615	NM_001035.3(RYR2):c.381C>T (p.Gly127=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely 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 532389	NM_001035.3(RYR2):c.385-9A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GBenign
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 2774238	NM_001035.3(RYR2):c.386A>G (p.Tyr129Cys)	RYR2 (Y129C)	Single nucleotide variant (missense variant)	Cardiomyopathy	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 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 920066	NM_001035.3(RYR2):c.412T>G (p.Ser138Ala)	RYR2 (S138A)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 629500	NM_001035.3(RYR2):c.453G>A (p.Glu151=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 201192	NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)	RYR2 (T153I)	Single nucleotide variant (missense variant)	Cardiomyopathy +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 43789	NM_001035.3(RYR2):c.463+6dup	RYR2	Duplication	Catecholaminergic polymorphic ventricular tachycardia 1 +2 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 918714	NM_001035.3(RYR2):c.464-13C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia +2 more	GLikely benign
Select item 918327	NM_001035.3(RYR2):c.464-12G>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GLikely benign
Select item 389545	NM_001035.3(RYR2):c.464-12G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GLikely benign
Select item 701854	NM_001035.3(RYR2):c.464-9_464-8delinsCC	RYR2	Indel (intron variant)	Cardiomyopathy +2 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 923517	NM_001035.3(RYR2):c.465G>T (p.Gly155=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 919002	NM_001035.3(RYR2):c.468G>A (p.Glu156=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +3 more	GLikely benign

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