Related gene-specific medical variations for Gene (Select 7169) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245096	NC_000009.11:g.(?_35683156)_(35689814_?)dup	TPM2	Duplication	Arthrogryposis, distal, type 1A	GUncertain significance
Select item 2437204	NM_003289.4(TPM2):c.581_585del (p.Glu194fs)	TPM2 (E194fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2437202	NM_003289.4(TPM2):c.755C>T (p.Thr252Ile)	TPM2 (T252I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437201	NM_003289.4(TPM2):c.284T>G (p.Val95Gly)	TPM2 (V95G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437200	NM_003289.4(TPM2):c.660del (p.Lys220fs)	TPM2 (K220fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2437199	NM_003289.4(TPM2):c.170T>G (p.Val57Gly)	TPM2 (V57G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437198	NM_003289.4(TPM2):c.134C>A (p.Ala45Asp)	TPM2 (A45D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434213	NM_003289.4(TPM2):c.492+2T>C	TPM2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 931452	NM_003289.4(TPM2):c.28A>T (p.Met10Leu)	TPM2 (M10L)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 930422	NM_213674.1(TPM2):c.776C>G (p.Thr259Ser)	TPM2 (T259S)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion	GUncertain significance
Select item 810376	NM_003289.4(TPM2):c.114+6G>A	TPM2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 548556	NM_213674.1(TPM2):c.826C>G (p.Gln276Glu)	TPM2 (Q276E)	Single nucleotide variant (missense variant)	Distal arthrogryposis type 2B1 +2 more	GUncertain significance
Select item 259039	NM_003289.4(TPM2):c.493-43G>C	TPM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 259038	NM_003289.4(TPM2):c.375-37G>A	TPM2	Single nucleotide variant (intron variant)	not specified	GLikely benign
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 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 140485	NM_003289.4(TPM2):c.154_156dup (p.Gly52dup)	TPM2	Duplication (inframe_insertion)	not provided	Gnot provided

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Links from Gene

Items: 22