ClinVar Miner

List of variants reported as likely pathogenic for TPM3-related myopathy by Invitae

Included ClinVar conditions (16):

Actin accumulation myopathy; Congenital myopathy with fiber type disproportion; Progressive scapulohumeroperoneal distal myopathy
Arthrogryposis, distal, type 1A; Congenital myopathy 23; Congenital myopathy with fiber type disproportion
Cap myopathy
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 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
Congenital myopathy 4B, autosomal recessive
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 disorder
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
TPM3-related myopathy

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_152263.4(TPM3):c.857A>C (p.Ter286Ser)	rs199474720	0.00001
NC_000001.10:g.(?_154148571)_(154148744_?)dup
NM_152263.4(TPM3):c.137C>T (p.Ala46Val)
NM_152263.4(TPM3):c.243+1G>A
NM_152263.4(TPM3):c.271C>G (p.Arg91Gly)	rs1571418855
NM_152263.4(TPM3):c.272G>A (p.Arg91His)
NM_152263.4(TPM3):c.298C>G (p.Leu100Val)	rs121964853
NM_152263.4(TPM3):c.43G>C (p.Asp15His)	rs1553251644
NM_152263.4(TPM3):c.44A>T (p.Asp15Val)	rs2148295444
NM_152263.4(TPM3):c.642+2T>C

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