ClinVar for MedGen (Select 1784046) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068251	NM_013451.4(MYOF):c.1714C>T (p.Arg572Trp)	MYOF (R559W +1 more)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 7	GLikely pathogenic
Select item 2672274	NM_013451.4(MYOF):c.1679A>C (p.Asp560Ala)	MYOF (D547A +1 more)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 7	GBenign
Select item 1162305	NM_013451.4(MYOF):c.651G>T (p.Arg217Ser)	MYOF (R217S)	Single nucleotide variant (missense variant)	Angioedema, hereditary, 7	GPathogenic

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