List of variants in gene combination MYH2, MYHAS reported as likely pathogenic for hereditary skeletal muscle disorder

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: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)	rs200662973	0.00034
NM_017534.6(MYH2):c.1008+1G>A	rs781504304	0.00002
NM_017534.6(MYH2):c.2725G>T (p.Glu909Ter)	rs780124402	0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys)	rs376357016	0.00002
NM_017534.6(MYH2):c.1975-1G>C	rs201082272	0.00001
NM_017534.6(MYH2):c.2063-2A>T	rs1349048266	0.00001
NM_017534.6(MYH2):c.5472+1G>A	rs758888662	0.00001
NM_017534.6(MYH2):c.1313del (p.Met438fs)
NM_017534.6(MYH2):c.1417-2_1417-1delinsCC	rs2073501817
NM_017534.6(MYH2):c.1897+1G>T
NM_017534.6(MYH2):c.2176C>T (p.Gln726Ter)
NM_017534.6(MYH2):c.2305-1G>A	rs2142305562
NM_017534.6(MYH2):c.3002del (p.Glu1001fs)	rs797045096
NM_017534.6(MYH2):c.4180G>T (p.Glu1394Ter)
NM_017534.6(MYH2):c.5301+2T>G
NM_017534.6(MYH2):c.5473-2A>C	rs2142290339
NM_017534.6(MYH2):c.5630T>C (p.Leu1877Pro)	rs2142289928
NM_017534.6(MYH2):c.5651A>C (p.Tyr1884Ser)
NM_017534.6(MYH2):c.5673+1G>C	rs1400481053

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.