ClinVar for MedGen (Select 419345) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30507	NM_023067.4(FOXL2):c.205G>A (p.Glu69Lys)	FOXL2 (E69K)	Single nucleotide variant (missense variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II	GPathogenic
Select item 4862	NM_023067.3(FOXL2):c.684684AGCTGCGGCTGCAGC[3] (p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)	FOXL2	Microsatellite (inframe_insertion)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GPathogenic
Select item 4861	NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter)	FOXL2 (Y274*)	Single nucleotide variant (nonsense)	Premature ovarian failure 3 +1 more	GPathogenic
Select item 4859	NM_023067.4(FOXL2):c.855_871del (p.Pro287fs)	FOXL2 (P287fs)	Deletion (frameshift variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II +1 more	GPathogenic
Select item 4858	NM_023067.4(FOXL2):c.804dup (p.Gly269fs)	FOXL2 (G269fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GPathogenic
Select item 4857	NM_023067.4(FOXL2):c.178_192dup (p.Val60_Ala64dup)	FOXL2	Duplication (inframe_insertion)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II +1 more	GPathogenic/Likely pathogenic
Select item 4854	NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)	FOXL2	Duplication (inframe_insertion)	not provided +1 more	GPathogenic

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