"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299900	NM_001035.3(RYR2):c.310-23_310-21del	RYR2	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1284662	NM_001035.3(RYR2):c.464-8A>T	RYR2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 296702	NM_001035.3(RYR2):c.577-14G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +4 more	GConflicting classifications of pathogenicity
Select item 296708	NM_001035.3(RYR2):c.1006-12C>T	RYR2	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 511958	NM_001035.3(RYR2):c.1108C>T (p.Leu370=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 378484	NM_001035.3(RYR2):c.1110A>G (p.Leu370=)	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 +6 more	GBenign/Likely benign
Select item 43728	NM_001035.3(RYR2):c.1359C>T (p.Ser453=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign
Select item 463573	NM_001035.3(RYR2):c.1395C>A (p.Pro465=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 161383	NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)	RYR2 (P466A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 43748	NM_001035.3(RYR2):c.1477-11dup	RYR2	Duplication	not specified +2 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 43752	NM_001035.3(RYR2):c.1612+14T>C	RYR2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GBenign
Select item 43753	NM_001035.3(RYR2):c.1776A>T (p.Gly592=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign
Select item 36737	NM_001035.3(RYR2):c.1863C>T (p.His621=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
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 93477	NM_001035.3(RYR2):c.2301G>T (p.Ser767=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +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
Select item 806395	NM_001035.3(RYR2):c.2423A>G (p.His808Arg)	RYR2 (H808R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 201165	NM_001035.3(RYR2):c.2574G>A (p.Thr858=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +6 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 296716	NM_001035.3(RYR2):c.2772G>A (p.Leu924=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 463591	NM_001035.3(RYR2):c.2922T>C (p.Ser974=)	RYR2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 43763	NM_001035.3(RYR2):c.2973A>G (p.Ser991=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 378486	NM_001035.3(RYR2):c.3024G>A (p.Ala1008=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 43765	NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)	RYR2 (R1051H)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +5 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 36741	NM_001035.3(RYR2):c.3599-9del	RYR2	Deletion (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 532318	NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)	LOC126806067, RYR2 (S1295G)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 138943	NM_001035.3(RYR2):c.3888C>T (p.Asn1296=)	LOC126806067, RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 43782	NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly)	RYR2 (S1400G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 921519	NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 36745	NM_001035.3(RYR2):c.5586C>T (p.Asp1862=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GConflicting classifications of pathogenicity
Select item 43807	NM_001035.3(RYR2):c.5619A>G (p.Ala1873=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 36746	NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)	RYR2 (G1885E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign
Select item 375865	NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)	RYR2 (R1941H)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 1299982	NM_001035.3(RYR2):c.6138A>G (p.Lys2046=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 138948	NM_001035.3(RYR2):c.6441-19C>T	RYR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 43820	NM_001035.3(RYR2):c.6928+4G>A	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +5 more	GBenign
Select item 36748	NM_001035.3(RYR2):c.7365C>T (p.Asp2455=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 36749	NM_001035.3(RYR2):c.7488C>T (p.Leu2496=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 1020194	NM_001035.3(RYR2):c.7543G>A (p.Ala2515Thr)	RYR2 (A2515T)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GUncertain significance
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 1174950	NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)	RYR2 (I2789T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GUncertain significance
Select item 43832	NM_001035.3(RYR2):c.8437-7dup	RYR2	Duplication	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 43833	NM_001035.3(RYR2):c.8448C>T (p.Asp2816=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign
Select item 36750	NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg)	RYR2 (Q2958R)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 43835	NM_001035.3(RYR2):c.9067+12C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GConflicting classifications of pathogenicity
Select item 138951	NM_001035.3(RYR2):c.9672C>T (p.Ser3224=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +4 more	GBenign/Likely benign
Select item 1283367	NM_001035.3(RYR2):c.10143-18A>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GBenign
Select item 138953	NM_001035.3(RYR2):c.10221G>A (p.Ser3407=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia +5 more	GBenign/Likely benign
Select item 36728	NM_001035.3(RYR2):c.10230+20T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 36729	NM_001035.3(RYR2):c.10254C>T (p.Asn3418=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +7 more	GBenign/Likely benign
Select item 43698	NM_001035.3(RYR2):c.10324-4A>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43699	NM_001035.3(RYR2):c.10503C>T (p.Thr3501=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign
Select item 296748	NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)	RYR2 (R3506Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 165118	NM_001035.3(RYR2):c.10941T>G (p.Pro3647=)	RYR2	Single nucleotide variant (synonymous variant)	RYR2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 1299907	NM_001035.3(RYR2):c.11477-20T>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1	GLikely benign
Select item 36731	NM_001035.3(RYR2):c.11557+19C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign
Select item 43716	NM_001035.3(RYR2):c.11963-11T>C	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign
Select item 43717	NM_001035.3(RYR2):c.11988C>T (p.Gly3996=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 43719	NM_001035.3(RYR2):c.12159G>A (p.Glu4053=)	RYR2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 517254	NM_001035.3(RYR2):c.12207T>C (p.Cys4069=)	RYR2	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 227908	NM_001035.3(RYR2):c.12663C>T (p.Ser4221=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 43721	NM_001035.3(RYR2):c.12705C>T (p.Phe4235=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 43723	NM_001035.3(RYR2):c.13137C>A (p.Ile4379=)	LOC126806068, RYR2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 36732	NM_001035.3(RYR2):c.13260+14A>G	LOC126806068, RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +3 more	GBenign/Likely benign
Select item 165128	NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)	RYR2 (E4431K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 218487	NM_001035.3(RYR2):c.13564-41A>G	RYR2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 227911	NM_001035.3(RYR2):c.13593G>A (p.Lys4531=)	RYR2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 2 +5 more	GConflicting classifications of pathogenicity
Select item 43731	NM_001035.3(RYR2):c.13783-6A>G	RYR2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 43732	NM_001035.3(RYR2):c.13913+12A>C	RYR2	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 43734	NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=)	RYR2	Single nucleotide variant (synonymous variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +6 more	GBenign/Likely benign
Select item 379193	NM_001035.3(RYR2):c.14152-15G>A	RYR2	Single nucleotide variant (intron variant)	not specified +4 more	GLikely benign
Select item 43740	NM_001035.3(RYR2):c.14299-12A>G	RYR2	Single nucleotide variant (intron variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 138957	NM_001035.3(RYR2):c.14809-20C>T	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GBenign
Select item 36735	NM_001035.3(RYR2):c.14809-15C>G	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +5 more	GBenign/Likely benign
Select item 201365	NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln)	RYR2 (R4959Q)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 78