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Links from MedGen

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXL2
Duplication
(inframe_insertion)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
GPathogenic
FOXL2
(Q321fs)
Duplication
(frameshift variant)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
GPathogenic
FOXL2
(H291fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
FOXL2
(Q99*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
FOXL2
(I84S)
Single nucleotide variant
(missense variant)
FOXL2-related disorder
GPathogenic
FOXL2
(Y274*)
Single nucleotide variant
(nonsense)
Premature ovarian failure 3
+1 more
GPathogenic
FOXL2
(Q53*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
FOXL2
(G269fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
+1 more
GPathogenic
FOXL2
(P307fs)
Duplication
(frameshift variant)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
GPathogenic
FOXL2
(P18fs)
Deletion
(frameshift variant)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
GPathogenic
FOXL2
(Q219*)
Single nucleotide variant
(nonsense)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
+1 more
GPathogenic
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