ClinVar Miner

List of variants in gene RYR2 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 48
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 1q43(chr1:237413038-237540797)
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg) rs794728704
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) rs794728777
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp)
NM_001035.3(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.3(RYR2):c.11965A>C (p.Asn3989His) rs794728779
NM_001035.3(RYR2):c.11965A>G (p.Asn3989Asp) rs794728779
NM_001035.3(RYR2):c.11995A>T (p.Met3999Leu) rs794728780
NM_001035.3(RYR2):c.12271_12272delinsAG (p.Ala4091Arg) rs794728837
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) rs121918599
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) rs771994461
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly) rs121918606
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met) rs1558481148
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) rs1553339086
NM_001035.3(RYR2):c.14704C>T (p.Pro4902Ser) rs794728808
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) rs794728813
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.506G>T (p.Arg169Leu) rs397516539
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.568A>G (p.Arg190Gly) rs794728814
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.689G>A (p.Gly230Asp) rs794728710
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) rs794728746
NM_001035.3(RYR2):c.6916G>C (p.Val2306Leu) rs794728746
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) rs121918601
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7189G>T (p.Asp2397Tyr) rs794728755
NM_001035.3(RYR2):c.7202G>T (p.Arg2401Leu) rs794728756
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) rs121918598

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.