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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXL2
(H291fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
FOXL2
(P287fs)
Deletion
(frameshift variant)
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II
+1 more
GPathogenic
FOXL2
(H289fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
Gnot provided
FOXL2
(P287fs)
Duplication
(frameshift variant)
FOXL2-related condition
+3 more
GPathogenic/Likely pathogenic
FOXL2
(P287fs)
Duplication
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(P285fs)
Deletion
(frameshift variant)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
FOXL2
(G269fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
FOXL2
Indel
(no sequence alteration)
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GBenign
FOXL2
(Q219*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
FOXL2
(S217F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
FOXL2
(G187D)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
FOXL2
Microsatellite
Blepharophimosis, ptosis, and epicanthus inversus syndrome
GPathogenic
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