ClinVar for MedGen (Select 443984) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4870	NM_023067.4(FOXL2):c.684_698dup (p.Ala234_Gly235insAlaAlaAlaAlaAla)	FOXL2	Duplication (inframe_insertion)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	GPathogenic
Select item 4867	NM_023067.4(FOXL2):c.959dup (p.Gln321fs)	FOXL2 (Q321fs)	Duplication (frameshift variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	GPathogenic
Select item 4866	NM_023067.4(FOXL2):c.855_871dup (p.His291fs)	FOXL2 (H291fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 4864	NM_023067.4(FOXL2):c.295C>T (p.Gln99Ter)	FOXL2 (Q99*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 4863	NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser)	FOXL2 (I84S)	Single nucleotide variant (missense variant)	FOXL2-related disorder	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 4860	NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter)	FOXL2 (Q53*)	Single nucleotide variant (nonsense)	not provided	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 4856	NM_023067.4(FOXL2):c.912_919dup (p.Pro307fs)	FOXL2 (P307fs)	Duplication (frameshift variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	GPathogenic
Select item 4855	NM_023067.4(FOXL2):c.53_54del (p.Pro18fs)	FOXL2 (P18fs)	Deletion (frameshift variant)	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	GPathogenic
Select item 4853	NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter)	FOXL2 (Q219*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic