"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "RYR3"[g - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 857441	NM_001036.6(RYR3):c.11G>C (p.Gly4Ala)	RYR3 (G4A)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 531023	NM_001036.6(RYR3):c.13G>A (p.Gly5Arg)	RYR3 (G5R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1006560	NM_001036.6(RYR3):c.14G>A (p.Gly5Glu)	RYR3 (G5E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 747459	NM_001036.6(RYR3):c.15A>G (p.Gly5=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 531143	NM_001036.6(RYR3):c.17A>G (p.Glu6Gly)	RYR3 (E6G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 646212	NM_001036.6(RYR3):c.30C>A (p.Asp10Glu)	RYR3 (D10E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763006	NM_001036.6(RYR3):c.46A>C (p.Arg16=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 763007	NM_001036.6(RYR3):c.51+9C>T	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 461924	NM_001036.6(RYR3):c.52-8_52-6del	RYR3	Deletion (intron variant)	Epileptic encephalopathy	GBenign
Select item 1150256	NM_001036.6(RYR3):c.57T>C (p.Asp19=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1152243	NM_001036.6(RYR3):c.78C>T (p.Ile26=)	RYR3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 461962	NM_001036.6(RYR3):c.78C>A (p.Ile26=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GBenign
Select item 1052415	NM_001036.6(RYR3):c.79G>A (p.Ala27Thr)	RYR3 (A27T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 962923	NM_001036.6(RYR3):c.80C>A (p.Ala27Asp)	RYR3 (A27D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 730338	NM_001036.6(RYR3):c.120C>T (p.Ala40=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1395319	NM_001036.6(RYR3):c.137G>A (p.Arg46His)	RYR3 (R46H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 461880	NM_001036.6(RYR3):c.147C>T (p.Phe49=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 566963	NM_001036.6(RYR3):c.160T>G (p.Ser54Ala)	RYR3 (S54A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1053470	NM_001036.6(RYR3):c.161C>T (p.Ser54Leu)	RYR3 (S54L)	Single nucleotide variant (missense variant)	Congenital myopathy 20 +1 more	GUncertain significance
Select item 1062277	NM_001036.6(RYR3):c.178C>G (p.Pro60Ala)	RYR3 (P60A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 864076	NM_001036.6(RYR3):c.191G>A (p.Cys64Tyr)	RYR3 (C64Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1101119	NM_001036.6(RYR3):c.192C>T (p.Cys64=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1002099	NM_001036.6(RYR3):c.193G>A (p.Val65Ile)	RYR3 (V65I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1126551	NM_001036.6(RYR3):c.222A>G (p.Leu74=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 765674	NM_001036.6(RYR3):c.234C>A (p.Ala78=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 946441	NM_001036.6(RYR3):c.251C>T (p.Ala84Val)	RYR3 (A84V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 582322	NM_001036.6(RYR3):c.264A>C (p.Glu88Asp)	RYR3 (E88D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 957953	NM_001036.6(RYR3):c.269GCG[1] (p.Gly91del)	RYR3 (G91del)	Microsatellite (inframe_deletion)	Epileptic encephalopathy	GUncertain significance
Select item 531149	NM_001036.6(RYR3):c.270C>T (p.Gly90=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 657760	NM_001036.6(RYR3):c.274G>A (p.Glu92Lys)	RYR3 (E92K)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 1110877	NM_001036.6(RYR3):c.279+8C>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1593671	NM_001036.6(RYR3):c.279+11G>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 461898	NM_001036.6(RYR3):c.280-7C>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1094198	NM_001036.6(RYR3):c.280-5C>T	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 772575	NM_001036.6(RYR3):c.282A>G (p.Ala94=)	RYR3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1414667	NM_001036.6(RYR3):c.287A>G (p.Gln96Arg)	RYR3 (Q96R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 778544	NM_001036.6(RYR3):c.288A>G (p.Gln96=)	RYR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1080618	NM_001036.6(RYR3):c.297C>T (p.Gly99=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 751204	NM_001036.6(RYR3):c.315C>T (p.Tyr105=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1144188	NM_001036.6(RYR3):c.339C>T (p.His113=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 461904	NM_001036.6(RYR3):c.348C>T (p.Ser116=)	RYR3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 461905	NM_001036.6(RYR3):c.349G>A (p.Gly117Arg)	RYR3 (G117R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1053571	NM_001036.6(RYR3):c.354+4A>G	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 967860	NM_001036.6(RYR3):c.354+5G>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 461907	NM_001036.6(RYR3):c.363A>G (p.Thr121=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 531003	NM_001036.6(RYR3):c.418C>T (p.Arg140Trp)	RYR3 (R140W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 707600	NM_001036.6(RYR3):c.434-5T>C	RYR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1055970	NM_001036.6(RYR3):c.454A>G (p.Ile152Val)	RYR3 (I152V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1045575	NM_001036.6(RYR3):c.454A>T (p.Ile152Leu)	RYR3 (I152L)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1095379	NM_001036.6(RYR3):c.498A>C (p.Arg166=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1010818	NM_001036.6(RYR3):c.511C>T (p.Leu171Phe)	RYR3 (L171F)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1118458	NM_001036.6(RYR3):c.519C>T (p.Leu173=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 658214	NM_001036.6(RYR3):c.526G>A (p.Val176Met)	RYR3 (V176M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1128190	NM_001036.6(RYR3):c.547-5T>C	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 795784	NM_001036.6(RYR3):c.552C>G (p.Leu184=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 658143	NM_001036.6(RYR3):c.556G>A (p.Val186Ile)	RYR3 (V186I)	Single nucleotide variant (missense variant)	RYR3-related Epileptic encephalopathy +1 more	GUncertain significance
Select item 1087189	NM_001036.6(RYR3):c.561A>C (p.Ser187=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 936529	NM_001036.6(RYR3):c.565G>A (p.Gly189Ser)	RYR3 (G189S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1054339	NM_001036.6(RYR3):c.571A>G (p.Ile191Val)	RYR3 (I191V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1057595	NM_001036.6(RYR3):c.578T>G (p.Val193Gly)	RYR3 (V193G)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 582789	NM_001036.6(RYR3):c.592A>G (p.Met198Val)	RYR3 (M198V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 1165950	NM_001036.6(RYR3):c.621G>A (p.Thr207=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign/Likely benign
Select item 1054357	NM_001036.6(RYR3):c.625T>C (p.Ser209Pro)	RYR3 (S209P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 855985	NM_001036.6(RYR3):c.639C>G (p.Ile213Met)	RYR3 (I213M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 566501	NM_001036.6(RYR3):c.648A>G (p.Gly216=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1130507	NM_001036.6(RYR3):c.663G>A (p.Gly221=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 862768	NM_001036.6(RYR3):c.674G>A (p.Arg225His)	RYR3 (R225H)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 965898	NM_001036.6(RYR3):c.683A>G (p.His228Arg)	RYR3 (H228R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1050929	NM_001036.6(RYR3):c.688C>G (p.His230Asp)	RYR3 (H230D)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 639263	NM_001036.6(RYR3):c.697T>C (p.Cys233Arg)	RYR3 (C233R)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1055430	NM_001036.6(RYR3):c.703A>G (p.Thr235Ala)	RYR3 (T235A)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 843777	NM_001036.6(RYR3):c.704C>T (p.Thr235Met)	RYR3 (T235M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 968732	NM_001036.6(RYR3):c.708A>G (p.Ile236Met)	RYR3 (I236M)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 576693	NM_001036.6(RYR3):c.720C>A (p.Asp240Glu)	RYR3 (D240E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 531130	NM_001036.6(RYR3):c.725A>G (p.Asn242Ser)	RYR3 (N242S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely benign
Select item 1083514	NM_001036.6(RYR3):c.741-7C>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1132220	NM_001036.6(RYR3):c.741-4A>C	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GLikely benign
Select item 1080718	NM_001036.6(RYR3):c.762G>A (p.Gly254=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 530997	NM_001036.6(RYR3):c.766G>A (p.Ala256Thr)	RYR3 (A256T)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 658419	NM_001036.6(RYR3):c.776G>A (p.Arg259Gln)	RYR3 (R259Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 461961	NM_001036.6(RYR3):c.789T>G (p.Leu263=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 581929	NM_001036.6(RYR3):c.808C>T (p.Arg270Trp)	RYR3 (R270W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1439137	NM_001036.6(RYR3):c.809G>A (p.Arg270Gln)	RYR3 (R270Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 577384	NM_001036.6(RYR3):c.815+6G>A	RYR3	Single nucleotide variant (intron variant)	Epileptic encephalopathy	GUncertain significance
Select item 1170000	NM_001036.6(RYR3):c.815+9A>G	RYR3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1042774	NM_001036.6(RYR3):c.821G>T (p.Ser274Ile)	RYR3 (S274I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 1113886	NM_001036.6(RYR3):c.825C>T (p.Gly275=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 1157814	NM_001036.6(RYR3):c.831C>T (p.Asn277=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy	GLikely benign
Select item 944966	NM_001036.6(RYR3):c.840G>A (p.Trp280Ter)	RYR3 (W280*)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GUncertain significance
Select item 461971	NM_001036.6(RYR3):c.855A>T (p.Arg285=)	RYR3	Single nucleotide variant (synonymous variant)	Epileptic encephalopathy +1 more	GBenign
Select item 1022311	NM_001036.6(RYR3):c.859C>T (p.Arg287Trp)	RYR3 (R287W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 840279	NM_001036.6(RYR3):c.860G>A (p.Arg287Gln)	RYR3 (R287Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy +1 more	GUncertain significance
Select item 938240	NM_001036.6(RYR3):c.877C>T (p.His293Tyr)	RYR3 (H293Y)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 953763	NM_001036.6(RYR3):c.922C>T (p.Arg308Trp)	RYR3 (R308W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 461983	NM_001036.6(RYR3):c.923G>A (p.Arg308Gln)	RYR3 (R308Q)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 639755	NM_001036.6(RYR3):c.926C>T (p.Ala309Val)	RYR3 (A309V)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 461987	NM_001036.6(RYR3):c.938C>A (p.Thr313Asn)	RYR3 (T313N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 645123	NM_001036.6(RYR3):c.940A>G (p.Lys314Glu)	RYR3 (K314E)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 571349	NM_001036.6(RYR3):c.961C>T (p.Arg321Trp)	RYR3 (R321W)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance
Select item 579964	NM_001036.6(RYR3):c.962G>A (p.Arg321Gln)	RYR3 (R321Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GUncertain significance

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