"PreventionGenetics, part of Exact Sciences"[submitter] AND "RYR3"[gen - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 461924	NM_001036.6(RYR3):c.52-8_52-6del	RYR3	Deletion (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 3052673	NM_001036.6(RYR3):c.273C>T (p.Gly91=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 3047426	NM_001036.6(RYR3):c.1095C>G (p.Thr365=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 461855	NM_001036.6(RYR3):c.1277A>G (p.Asn426Ser)	RYR3 (N426S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461857	NM_001036.6(RYR3):c.1295T>G (p.Ile432Ser)	RYR3 (I432S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1140609	NM_001036.6(RYR3):c.1574-11_1574-9del	RYR3	Deletion (intron variant)	RYR3-related disorder +1 more	GLikely benign
Select item 1007486	NM_001036.6(RYR3):c.1688A>C (p.His563Pro)	RYR3 (H563P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 461885	NM_001036.6(RYR3):c.1788+10G>C	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 3032852	NM_001036.6(RYR3):c.1791T>A (p.Val597=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 2633516	NM_001036.6(RYR3):c.1951G>A (p.Ala651Thr)	RYR3 (A651T)	Single nucleotide variant (missense variant)	RYR3-related disorder +1 more	GUncertain significance
Select item 461897	NM_001036.6(RYR3):c.2770A>G (p.Thr924Ala)	RYR3 (T924A)	Single nucleotide variant (missense variant)	RYR3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 779821	NM_001036.6(RYR3):c.3348C>T (p.Ala1116=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder +1 more	GBenign/Likely benign
Select item 3047049	NM_001036.6(RYR3):c.3561C>T (p.Phe1187=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 531123	NM_001036.6(RYR3):c.3609C>T (p.Leu1203=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 380973	NM_001036.6(RYR3):c.4296C>T (p.Gly1432=)	RYR3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 461912	NM_001036.6(RYR3):c.4396-10C>T	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1112470	NM_001036.6(RYR3):c.4398C>T (p.Asn1466=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder +1 more	GLikely benign
Select item 2628651	NM_001036.6(RYR3):c.4490C>A (p.Pro1497His)	RYR3 (P1497H)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance
Select item 3040217	NM_001036.6(RYR3):c.4491C>T (p.Pro1497=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 707053	NM_001036.6(RYR3):c.4521C>T (p.Phe1507=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 3055139	NM_001036.6(RYR3):c.4626T>C (p.Cys1542=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 461917	NM_001036.6(RYR3):c.4701G>A (p.Ala1567=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 3051019	NM_001036.6(RYR3):c.4744A>G (p.Ser1582Gly)	RYR3 (S1582G)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance
Select item 3036987	NM_001036.6(RYR3):c.4986G>A (p.Lys1662=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 531024	NM_001036.6(RYR3):c.5568G>A (p.Ala1856=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 461931	NM_001036.6(RYR3):c.5620-5C>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461933	NM_001036.6(RYR3):c.5982G>A (p.Gly1994=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 739132	NM_001036.6(RYR3):c.6125A>C (p.Asn2042Thr)	RYR3 (N2042T)	Single nucleotide variant (missense variant)	RYR3-related disorder +1 more	GLikely benign
Select item 461936	NM_001036.6(RYR3):c.6617A>C (p.Asn2206Thr)	RYR3 (N2206T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 3048200	NM_001036.6(RYR3):c.6775C>T (p.Pro2259Ser)	RYR3 (P2259S)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance
Select item 461942	NM_001036.6(RYR3):c.6960G>C (p.Leu2320=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461951	NM_001036.6(RYR3):c.7581C>T (p.Tyr2527=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461957	NM_001036.6(RYR3):c.7812C>G (p.Asn2604Lys)	RYR3 (N2604K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GLikely benign
Select item 759651	NM_001036.6(RYR3):c.7820+7C>A	RYR3	Single nucleotide variant (intron variant)	RYR3-related disorder +1 more	GLikely benign
Select item 461958	NM_001036.6(RYR3):c.7827C>G (p.Ser2609=)	RYR3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2705828	NM_001036.6(RYR3):c.7839A>G (p.Lys2613=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder +1 more	GLikely benign
Select item 461964	NM_001036.6(RYR3):c.8117G>T (p.Ser2706Ile)	RYR3 (S2706I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461966	NM_001036.6(RYR3):c.8400-5C>T	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461967	NM_001036.6(RYR3):c.8481C>T (p.Tyr2827=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 572108	NM_001036.6(RYR3):c.8496A>C (p.Gln2832His)	RYR3 (Q2832H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 461969	NM_001036.6(RYR3):c.8542G>A (p.Glu2848Lys)	RYR3 (E2848K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 461970	NM_001036.6(RYR3):c.8555G>A (p.Arg2852His)	RYR3 (R2852H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 461974	NM_001036.6(RYR3):c.8724C>T (p.Ala2908=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 531158	NM_001036.6(RYR3):c.8956G>A (p.Val2986Ile)	RYR3 (V2986I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 461980	NM_001036.6(RYR3):c.9143G>T (p.Arg3048Leu)	RYR3 (R3048L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461984	NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg)	RYR3 (P3085R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GConflicting classifications of pathogenicity
Select item 707362	NM_001036.6(RYR3):c.9297C>T (p.Asp3099=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 531069	NM_001036.6(RYR3):c.9355G>A (p.Glu3119Lys)	RYR3 (E3119K)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 461991	NM_001036.6(RYR3):c.9816C>T (p.Tyr3272=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 661699	NM_001036.6(RYR3):c.9830+5G>A	RYR3	Single nucleotide variant (intron variant)	RYR3-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 461992	NM_001036.6(RYR3):c.9831-8G>C	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 461993	NM_001036.6(RYR3):c.9873C>G (p.Leu3291=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 2634478	NM_001036.6(RYR3):c.10304T>A (p.Val3435Asp)	RYR3 (V3430D +1 more)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance
Select item 531169	NM_001036.6(RYR3):c.10698G>A (p.Thr3566=)	RYR3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 751762	NM_001036.6(RYR3):c.11298C>A (p.Val3766=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 461843	NM_001036.6(RYR3):c.11464-8C>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +2 more	GBenign/Likely benign
Select item 461844	NM_001036.6(RYR3):c.11545A>C (p.Asn3849His)	RYR3 (N3849H +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461846	NM_001036.6(RYR3):c.11859G>A (p.Gln3953=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 3052994	NM_001036.6(RYR3):c.12021C>T (p.Asn4007=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder	GLikely benign
Select item 1094704	NM_001036.6(RYR3):c.12030C>A (p.Arg4010=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 580244	NM_001036.6(RYR3):c.12463G>A (p.Asp4155Asn)	RYR3 (D4155N +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +2 more	GLikely benign
Select item 1122956	NM_001036.6(RYR3):c.13584A>G (p.Glu4528=)	RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder +1 more	GLikely benign
Select item 531104	NM_001036.6(RYR3):c.13938A>G (p.Leu4646=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 1086732	NM_001036.6(RYR3):c.14058G>T (p.Val4686=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 461872	NM_001036.6(RYR3):c.14110G>A (p.Glu4704Lys)	RYR3, AVEN (E4704K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 461875	NM_001036.6(RYR3):c.14127C>T (p.Cys4709=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GLikely benign
Select item 784799	NM_001036.6(RYR3):c.14163C>T (p.Tyr4721=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	RYR3-related disorder +1 more	GLikely benign
Select item 461878	NM_001036.6(RYR3):c.14280C>T (p.Ile4760=)	AVEN, RYR3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2636183	NM_001036.6(RYR3):c.14478G>A (p.Met4826Ile)	AVEN, RYR3 (M4821I +1 more)	Single nucleotide variant (missense variant)	RYR3-related disorder	GUncertain significance

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Items: 69