"Ambry Genetics"[submitter] AND "TPM2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2382287	NM_213674.1(TPM2):c.829A>G (p.Thr277Ala)	TPM2 (T277A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3181545	NM_003289.4(TPM2):c.725C>A (p.Ala242Asp)	TPM2 (A242D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 986244	NM_003289.4(TPM2):c.421_441del (p.Met141_Gln147del)	TPM2	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
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 570985	NM_003289.4(TPM2):c.230A>G (p.Lys77Arg)	TPM2 (K77R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3328290	NM_003289.4(TPM2):c.134C>T (p.Ala45Val)	TPM2 (A45V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521421	NM_003289.4(TPM2):c.26A>C (p.Gln9Pro)	TPM2 (Q9P)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 1A +1 more	GLikely pathogenic

ClinVar