ClinVar Miner

List of variants in gene TPM2 reported as uncertain significance for TPM2-related myopathy

Included ClinVar conditions (23):

Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy
Arthrogryposis, distal, type 1A; Congenital myopathy 23
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Central core myopathy
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; King Denborough syndrome
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Central core disease, autosomal recessive; Centronuclear myopathy
Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Myopathy, RYR1-associated
Central core myopathy; Neuromuscular disease
Congenital myopathy 23
Congenital myopathy 4B, autosomal recessive; Congenital myopathy with fiber type disproportion
Congenital myopathy with fiber type disproportion
Eichsfeld type congenital muscular dystrophy; Congenital myopathy with fiber type disproportion
Hypertrophic cardiomyopathy 1; Left ventricular noncompaction 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy; MYH7-Related Disorders
Hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; MYH7-related skeletal myopathy
Malignant hyperthermia, susceptibility to, 1; Congenital myopathy with fiber type disproportion; Multiminicore myopathy; Centronuclear myopathy
TPM2-related myopathy

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: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003289.4(TPM2):c.*194C>T	rs561175276	0.00068
NM_213674.1(TPM2):c.-238C>T	rs886063908	0.00020
NM_213674.1(TPM2):c.-158C>A	rs886063907	0.00014
NM_003289.4(TPM2):c.*99A>G	rs879505630	0.00007
NM_003289.4(TPM2):c.*199C>T	rs965743785	0.00002
NM_003289.4(TPM2):c.773-3C>A	rs199476157	0.00002
NM_213674.1(TPM2):c.776C>G (p.Thr259Ser)	rs1197412497	0.00001
NM_003289.4(TPM2):c.*22C>A	rs1824669468
NM_003289.4(TPM2):c.-92C>T	rs886063906
NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)
NM_003289.4(TPM2):c.28A>T (p.Met10Leu)	rs1825152365
NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr)	rs1369077598
NM_003289.4(TPM2):c.760G>A (p.Asp254Asn)	rs1419786293
NM_003289.4(TPM2):c.773-5C>G	rs1230541017
NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)
NM_213674.1(TPM2):c.-118G>A	rs986048371
NM_213674.1(TPM2):c.-142C>T	rs1825166266
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	rs376668943

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.