List of variants in gene RYR2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_001035.3(RYR2):c.11092-6A>T	rs397516501	0.00031
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)	rs571985775	0.00028
NM_001035.3(RYR2):c.2613+4C>G	rs371880082	0.00021
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)	rs547005691	0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn)	rs193922623	0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)	rs200420897	0.00016
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)	rs200070226	0.00014
NM_001035.3(RYR2):c.13957-5C>G	rs189772599	0.00010
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)	rs727503404	0.00009
NM_001035.3(RYR2):c.463+9C>T	rs559545973	0.00009
NM_001035.3(RYR2):c.6441-8C>G	rs770177812	0.00009
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)	rs371086868	0.00008
NM_001035.3(RYR2):c.51T>C (p.Asp17=)	rs373674802	0.00007
NM_001035.3(RYR2):c.10494+13T>G	rs796484463	0.00006
NM_001035.3(RYR2):c.4596+4C>T	rs397516532	0.00006
NM_001035.3(RYR2):c.8437-3T>C	rs924080705	0.00006
NM_001035.3(RYR2):c.1005+7C>T	rs774100182	0.00004
NM_001035.3(RYR2):c.11557+15G>A	rs761490797	0.00004
NM_001035.3(RYR2):c.13913+17A>G	rs371894104	0.00004
NM_001035.3(RYR2):c.2718+19T>C	rs773320230	0.00004
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)	rs770863319	0.00004
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)	rs768711283	0.00003
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys)	rs1409192667	0.00003
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)	rs370568809	0.00003
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)	rs192890834	0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)	rs397516527	0.00002
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)	rs766802574	0.00002
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser)	rs777736127	0.00002
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)	rs377712921	0.00001
NM_001035.3(RYR2):c.10142+4T>C	rs397516496	0.00001
NM_001035.3(RYR2):c.10230T>C (p.His3410=)	rs370078129	0.00001
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)	rs368064371	0.00001
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)	rs375947003	0.00001
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg)	rs758125356	0.00001
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn)	rs1200279072	0.00001
NM_001035.3(RYR2):c.1170+10T>C	rs760377600	0.00001
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)	rs762879895	0.00001
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser)	rs886039213	0.00001
NM_001035.3(RYR2):c.14152-3T>C	rs376797615	0.00001
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn)	rs1558850631	0.00001
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)	rs754901791	0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)	rs371157868	0.00001
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)	rs900519025	0.00001
NM_001035.3(RYR2):c.463+10T>C	rs193922627	0.00001
NM_001035.3(RYR2):c.5279G>A (p.Arg1760Gln)	rs765106198	0.00001
NM_001035.3(RYR2):c.5575G>A (p.Glu1859Lys)	rs755584806	0.00001
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)	rs754811291	0.00001
NM_001035.3(RYR2):c.5916+9A>G	rs1002006336	0.00001
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)	rs930769080	0.00001
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)	rs1243083109	0.00001
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)	rs1177415020	0.00001
NM_001035.3(RYR2):c.773+18T>C	rs758435186	0.00001
NM_001035.3(RYR2):c.7733+12A>C	rs1024864893	0.00001
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)	rs754312807	0.00001
NM_001035.3(RYR2):c.8714+20A>G	rs1176577543	0.00001
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)	rs1227241969	0.00001
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)	rs745616771	0.00001
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys)	rs553445235	0.00001
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)	rs201749277
NM_001035.3(RYR2):c.10703del (p.Val3568fs)	rs1690189277
NM_001035.3(RYR2):c.11930A>C (p.Asp3977Ala)	rs1553321536
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
NM_001035.3(RYR2):c.13957-10A>C
NM_001035.3(RYR2):c.14090+3_14090+6dup
NM_001035.3(RYR2):c.14590+7A>G	rs1553339087
NM_001035.3(RYR2):c.1468C>T (p.Gln490Ter)	rs2150218274
NM_001035.3(RYR2):c.14757-6del	rs1663791400
NM_001035.3(RYR2):c.14757-8dup	rs1663790050
NM_001035.3(RYR2):c.1803del (p.Asp602fs)	rs2150413242
NM_001035.3(RYR2):c.1997G>A (p.Gly666Asp)	rs1428072554
NM_001035.3(RYR2):c.2119C>T (p.Pro707Ser)
NM_001035.3(RYR2):c.2218A>T (p.Thr740Ser)	rs779813798
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val)	rs794728729
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)	rs940667860
NM_001035.3(RYR2):c.2433C>G (p.Phe811Leu)
NM_001035.3(RYR2):c.2613+8G>A	rs776678807
NM_001035.3(RYR2):c.274-7T>C	rs2149691778
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr)	rs1665922680
NM_001035.3(RYR2):c.2805G>A (p.Met935Ile)	rs727505044
NM_001035.3(RYR2):c.2825C>T (p.Thr942Ile)
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu)	rs1042196921
NM_001035.3(RYR2):c.2983A>G (p.Met995Val)
NM_001035.3(RYR2):c.3067-1G>A
NM_001035.3(RYR2):c.3503T>C (p.Met1168Thr)	rs778702831
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly)	rs149760466
NM_001035.3(RYR2):c.463+7A>C
NM_001035.3(RYR2):c.464-10A>G	rs1257588740
NM_001035.3(RYR2):c.4784T>C (p.Leu1595Pro)
NM_001035.3(RYR2):c.5364G>C (p.Lys1788Asn)
NM_001035.3(RYR2):c.5384T>G (p.Leu1795Arg)
NM_001035.3(RYR2):c.596G>A (p.Gly199Asp)
NM_001035.3(RYR2):c.6022+14G>A	rs1370132495
NM_001035.3(RYR2):c.6027T>G (p.Ile2009Met)	rs1553529773
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)	rs878854160
NM_001035.3(RYR2):c.6167-7T>C	rs1679840771
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)	rs753164125
NM_001035.3(RYR2):c.640G>A (p.Val214Met)	rs1036926941
NM_001035.3(RYR2):c.6555+8C>G	rs1759122
NM_001035.3(RYR2):c.6793-4G>T	rs568936247
NM_001035.3(RYR2):c.6838C>G (p.Leu2280Val)	rs1681098060
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)	rs727503401
NM_001035.3(RYR2):c.749G>T (p.Gly250Val)	rs376925177
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe)	rs775400701
NM_001035.3(RYR2):c.7860T>A (p.Tyr2620Ter)	rs1415898681
NM_001035.3(RYR2):c.7903GAA[2] (p.Glu2637del)	rs1217786961
NM_001035.3(RYR2):c.9129-2A>G	rs1558245390
NM_001035.3(RYR2):c.9344A>G (p.His3115Arg)
NM_001035.3(RYR2):c.9361del (p.Asp3120_Leu3121insTer)	rs1687868371
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter)	rs939109036

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