"Revvity Omics, Revvity"[submitter] AND "TPM2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2437203	NM_003289.4(TPM2):c.743A>T (p.Lys248Met)	TPM2 (K248M)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +1 more	GUncertain significance
Select item 2437200	NM_003289.4(TPM2):c.660del (p.Lys220fs)	TPM2 (K220fs)	Deletion (frameshift variant)	not provided	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 458724	NM_003289.4(TPM2):c.536C>T (p.Ser179Leu)	TPM2 (S179L)	Single nucleotide variant (missense variant)	not provided +1 more	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 657563	NM_003289.4(TPM2):c.436A>G (p.Met146Val)	TPM2 (M146V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 631480	NM_003289.4(TPM2):c.374+2T>C	TPM2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1311168	NM_003289.4(TPM2):c.372G>C (p.Glu124Asp)	TPM2 (E124D)	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 2434210	NM_003289.4(TPM2):c.220del (p.Ala74fs)	TPM2 (A74fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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