ClinVar Miner

List of variants in gene RYR2 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 51
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HGVS dbSNP
NM_001035.3(RYR2):c.*8C>T rs771506133
NM_001035.3(RYR2):c.10059C>A (p.Leu3353=) rs370015676
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys) rs201749277
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874
NM_001035.3(RYR2):c.10790G>A (p.Arg3597Lys) rs757494145
NM_001035.3(RYR2):c.10904A>G (p.Tyr3635Cys) rs886044331
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr) rs375095599
NM_001035.3(RYR2):c.11272A>G (p.Thr3758Ala) rs886043623
NM_001035.3(RYR2):c.11402+4A>G rs1553313446
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg) rs775477470
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.13213C>T (p.Leu4405Phe)
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala) rs780266883
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=) rs398123540
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu) rs372761438
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.3(RYR2):c.3808-9G>A rs557880129
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.4160+7A>G rs377465289
NM_001035.3(RYR2):c.41T>C (p.Leu14Pro) rs886043844
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.3(RYR2):c.4736T>C (p.Val1579Ala) rs766750384
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=) rs780111656
NM_001035.3(RYR2):c.4760A>G (p.His1587Arg) rs727504133
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) rs770863319
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) rs377763336
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.6571A>G (p.Lys2191Glu) rs886042151
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile) rs749618476
NM_001035.3(RYR2):c.8377C>A (p.Arg2793=) rs373172640
NM_001035.3(RYR2):c.8416C>A (p.Arg2806Ser) rs727504134
NM_001035.3(RYR2):c.8831-9A>C rs187977513
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.3(RYR2):c.9250C>T (p.Arg3084Ter) rs1356957973
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu) rs745616771
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522

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