ClinVar for MedGen (Select 356648) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973108	NM_006796.3(AFG3L2):c.1289C>T (p.Thr430Ile)	AFG3L2 (T430I)	Single nucleotide variant (missense variant)	Optic atrophy +1 more	GPathogenic
Select item 374173	NM_000166.6(GJB1):c.109G>T (p.Val37Leu)	GJB1 (V37L)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Patent ductus arteriosus +22 more	GPathogenic

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