ClinVar for MedGen (Select 324513) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627516	NM_003289.4(TPM2):c.144G>T (p.Lys48Asn)	TPM2 (K48N)	Single nucleotide variant (missense variant)	Congenital myopathy 23	GUncertain significance
Select item 2585480	NM_003289.4(TPM2):c.784G>T (p.Ala262Ser)	TPM2 (A262S)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 23	GUncertain significance
Select item 1565934	NM_003289.4(TPM2):c.564-20_564-19dup	TPM2	Duplication (intron variant)	Congenital myopathy with fiber type disproportion +2 more	GBenign/Likely benign
Select item 1299603	NM_213674.1(TPM2):c.773-2A>C	TPM2	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 23	GLikely pathogenic
Select item 1028593	NM_003289.4(TPM2):c.773-5C>G	TPM2	Single nucleotide variant (intron variant)	Congenital myopathy 23	GUncertain significance
Select item 977300	NM_003289.4(TPM2):c.782A>G (p.Tyr261Cys)	TPM2 (Y261C)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, distal, type 1A +3 more	GPathogenic/Likely pathogenic
Select item 914913	NM_213674.1(TPM2):c.-118G>A	TPM2	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 914861	NM_003289.4(TPM2):c.*194C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 914860	NM_003289.4(TPM2):c.*199C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 914400	NM_003289.4(TPM2):c.558C>T (p.Ala186=)	TPM2	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 913284	NM_003289.4(TPM2):c.569G>A (p.Cys190Tyr)	TPM2 (C190Y)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 913283	NM_003289.4(TPM2):c.760G>A (p.Asp254Asn)	TPM2 (D254N)	Single nucleotide variant (missense variant)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 912958	NM_213674.1(TPM2):c.-142C>T	TPM2	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 912915	NM_003289.4(TPM2):c.*22C>A	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 670242	NM_213674.1(TPM2):c.-135T>A	TPM2	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1A +2 more	GBenign
Select item 670241	NM_213674.1(TPM2):c.-136T>A	TPM2	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1A +2 more	GBenign
Select item 670240	NM_213674.1(TPM2):c.-137T>A	TPM2	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1A +2 more	GBenign
Select item 617588	NM_003289.4(TPM2):c.269G>A (p.Arg90His)	TPM2 (R90H)	Single nucleotide variant (missense variant)	Congenital myopathy 23	GLikely pathogenic
Select item 548556	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	TPM2 (Q276E)	Single nucleotide variant (missense variant)	Congenital myopathy 23 +2 more	GUncertain significance
Select item 458723	NM_003289.4(TPM2):c.374+9G>C	TPM2	Single nucleotide variant (intron variant)	TPM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 366775	NM_213674.1(TPM2):c.-238C>T	TPM2	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 366774	NM_213674.1(TPM2):c.-158C>A	TPM2	Single nucleotide variant (5 prime UTR variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 366773	NM_003289.4(TPM2):c.-92C>T	TPM2	Single nucleotide variant (5 prime UTR variant)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 366772	NM_003289.4(TPM2):c.-65C>T	TPM2	Single nucleotide variant (5 prime UTR variant)	Congenital myopathy 23 +1 more	GBenign
Select item 366771	NM_003289.4(TPM2):c.-10C>A	TPM2	Single nucleotide variant (5 prime UTR variant)	TPM2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 366770	NM_003289.4(TPM2):c.564-9C>T	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A +3 more	GConflicting classifications of pathogenicity
Select item 366767	NM_003289.4(TPM2):c.813C>T (p.Ser271=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Congenital myopathy 23 +1 more	GBenign/Likely benign
Select item 366766	NM_003289.4(TPM2):c.*25A>C	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GConflicting classifications of pathogenicity
Select item 366765	NM_003289.4(TPM2):c.*99A>G	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 224658	NM_003289.4(TPM2):c.181T>C (p.Ser61Pro)	TPM2 (S61P)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +1 more	GConflicting classifications of pathogenicity
Select item 140496	NM_003289.4(TPM2):c.773-3C>A	TPM2	Single nucleotide variant (intron variant)	Congenital myopathy 23 +1 more	GUncertain significance
Select item 140486	NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	TPM2 (K7del)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
Select item 94125	NM_003289.4(TPM2):c.773-4_773-3dup	TPM2	Duplication (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 94122	NM_003289.4(TPM2):c.*8G>A	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 94121	NM_003289.4(TPM2):c.*7C>T	TPM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 12467	NM_003289.4(TPM2):c.606C>G (p.Asn202Lys)	TPM2 (N202K)	Single nucleotide variant (missense variant +1 more)	Congenital myopathy 23	GPathogenic
Select item 12466	NM_003289.4(TPM2):c.142AAG[1] (p.Lys49del)	TPM2 (K49del)	Microsatellite (inframe_deletion)	Arthrogryposis, distal, type 1A	GLikely pathogenic
Select item 12465	NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)	TPM2 (E139del)	Microsatellite (inframe_deletion)	not provided +3 more	GPathogenic
Select item 12464	NM_003289.4(TPM2):c.121G>A (p.Glu41Lys)	TPM2 (E41K)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GPathogenic
Select item 12462	NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	TPM2 (E117K)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +1 more	GPathogenic
Select item 12461	NM_003289.4(TPM2):c.440A>C (p.Gln147Pro)	TPM2 (Q147P)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 41