ClinVar for MedGen (Select 330763) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523663	NM_005593.3(MYF5):c.23_32del (p.Gln8fs)	MYF5 (Q8fs)	Deletion (frameshift variant)	Ophthalmoplegia, external, with rib and vertebral anomalies +3 more	GPathogenic
Select item 523662	NM_005593.3(MYF5):c.283C>T (p.Arg95Cys)	MYF5 (R95C)	Single nucleotide variant (missense variant)	Ophthalmoplegia, external, with rib and vertebral anomalies +3 more	GPathogenic