ClinVar for MedGen (Select 1682592) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 631480	NM_003289.4(TPM2):c.374+2T>C	TPM2	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 631479	NM_003289.4(TPM2):c.308A>G (p.Gln103Arg)	TPM2 (Q103R)	Single nucleotide variant (missense variant)	Arthrogryposis, distal, type 2B4	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

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