ClinVar (all) for Orgtrack (Select 504734) - ClinVar

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

Links from Orgtrack

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 140496	NM_003289.4(TPM2):c.773-3C>A	TPM2	Single nucleotide variant (intron variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 140495	NM_003289.4(TPM2):c.699G>T (p.Lys233Asn)	TPM2 (K233N)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 140494	NM_003289.4(TPM2):c.651AGA[1] (p.Glu218del)	TPM2 (E218del)	Microsatellite (inframe_deletion)	not provided	Gnot provided
Select item 140493	NM_003289.4(TPM2):c.628C>T (p.Gln210Ter)	TPM2 (Q210*)	Single nucleotide variant (nonsense +1 more)	not provided	Gnot provided
Select item 140492	NM_003289.4(TPM2):c.5A>T (p.Asp2Val)	TPM2 (D2V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 140491	NM_003289.4(TPM2):c.398G>C (p.Arg133Pro)	TPM2 (R133P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 140490	NM_003289.4(TPM2):c.278A>G (p.Gln93Arg)	TPM2 (Q93R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 140489	NM_003289.4(TPM2):c.240+5G>A	TPM2	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 140488	NM_003289.4(TPM2):c.240+4_240+7del	TPM2	Deletion (splice donor variant)	not provided	Gnot provided
Select item 140487	NM_003289.4(TPM2):c.240+2T>G	TPM2	Single nucleotide variant (splice donor variant)	not provided	Gnot provided
Select item 140486	NM_003289.4(TPM2):c.14AGA[2] (p.Lys7del)	TPM2 (K7del)	Microsatellite (inframe_deletion)	not provided +2 more	GPathogenic
Select item 140485	NM_003289.4(TPM2):c.154_156dup (p.Gly52dup)	TPM2	Duplication (inframe_insertion)	not provided	Gnot provided
Select item 140484	NM_003289.4(TPM2):c.115-105A>G	TPM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 94124	NM_003289.4(TPM2):c.773-3dup	TPM2	Duplication (intron variant)	Nemaline Myopathy, Dominant +4 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 +3 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 +2 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 12463	NM_003289.4(TPM2):c.397C>T (p.Arg133Trp)	TPM2 (R133W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 12462	NM_003289.4(TPM2):c.349G>A (p.Glu117Lys)	TPM2 (E117K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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
Select item 12460	NM_003289.4(TPM2):c.271C>G (p.Arg91Gly)	TPM2 (R91G)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 23