FOXL2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1228805	NM_023067.4(FOXL2):c.*925dup	FOXL2	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1685141	NM_023067.4(FOXL2):c.*619C>A	FOXL2	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 3045061	NM_023067.4(FOXL2):c.*614C>T	FOXL2	Single nucleotide variant (3 prime UTR variant)	FOXL2-related disorder	GLikely benign
Select item 57833	GRCh38/hg38 3q22.3(chr3:138945182-138946841)x1	FOXL2	Copy number loss	See cases	GPathogenic
Select item 1701464	NM_023067.4(FOXL2):c.673_*315inv (p.Ala225_Leu376delinsTrpAlaGlyAspAlaGlyAlaProGluArgAspGluProSerArgLysArgAlaGluArgGlnLeuGlnAlaArgGlyValGlnGlyHisArgGlyGlnGlyGlyGluHisArgArgThr)	FOXL2	Inversion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2631816	NM_023067.4(FOXL2):c.1115C>T (p.Ser372Leu)	FOXL2 (S372L)	Single nucleotide variant (missense variant)	FOXL2-related disorder	GUncertain significance
Select item 634965	NM_023067.4(FOXL2):c.1103del (p.Gly368fs)	FOXL2 (G368fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2890002	NM_023067.4(FOXL2):c.1101C>A (p.Thr367=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 435242	NM_023067.4(FOXL2):c.1071T>C (p.His357=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2624406	NM_023067.4(FOXL2):c.1067T>C (p.Met356Thr)	FOXL2 (M356T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188545	NM_023067.4(FOXL2):c.1053C>T (p.Pro351=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 134454	NM_023067.4(FOXL2):c.1045C>G (p.Arg349Gly)	FOXL2 (R349G)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 2709291	NM_023067.4(FOXL2):c.1018_1021dup (p.Pro341fs)	FOXL2 (P341fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 369938	NM_023067.4(FOXL2):c.1011del (p.Thr338fs)	FOXL2 (T338fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634964	NM_023067.4(FOXL2):c.998dup (p.Ala334fs)	FOXL2 (A334fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634984	NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs)	FOXL2 (H312fs)	Indel (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3096484	NM_023067.4(FOXL2):c.995C>T (p.Pro332Leu)	FOXL2 (P332L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361547	NM_023067.4(FOXL2):c.994C>G (p.Pro332Ala)	FOXL2 (P332A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 503493	NM_023067.4(FOXL2):c.988dup (p.Ala330fs)	FOXL2 (A330fs)	Duplication (frameshift variant)	Premature ovarian failure 3	GPathogenic
Select item 162044	NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs)	FOXL2 (T329fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369937	NM_023067.4(FOXL2):c.982del (p.Ala328fs)	FOXL2 (A328fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3096483	NM_023067.4(FOXL2):c.974C>G (p.Ala325Gly)	FOXL2 (A325G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 369936	NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs)	FOXL2 (Q321fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 634987	NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)	FOXL2 (P317fs)	Microsatellite (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3061823	NM_023067.4(FOXL2):c.953C>A (p.Pro318Gln)	FOXL2 (P318Q)	Single nucleotide variant (missense variant)	Duane retraction syndrome	GUncertain significance
Select item 634986	NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs)	FOXL2 (A316fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2654193	NM_023067.4(FOXL2):c.942C>T (p.Ala314=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257521	NM_023067.4(FOXL2):c.937G>A (p.Gly313Arg)	FOXL2 (G313R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527881	NM_023067.4(FOXL2):c.934C>A (p.His312Asn)	FOXL2 (H312N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572197	NM_023067.4(FOXL2):c.927del (p.Pro310fs)	FOXL2 (P310fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369935	NM_023067.4(FOXL2):c.907_926dup (p.His312fs)	FOXL2 (H312fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 634985	NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs)	FOXL2 (P305fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2049060	NM_023067.4(FOXL2):c.909del (p.Ala304fs)	FOXL2 (A304fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2351533	NM_023067.4(FOXL2):c.908C>G (p.Ala303Gly)	FOXL2 (A303G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049065	NM_023067.4(FOXL2):c.908C>T (p.Ala303Val)	FOXL2 (A303V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 369934	NM_023067.4(FOXL2):c.892dup (p.His298fs)	FOXL2 (H298fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2748834	NM_023067.4(FOXL2):c.881del (p.Pro294fs)	FOXL2 (P294fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1256027	NM_023067.4(FOXL2):c.871dup (p.His291fs)	FOXL2 (H291fs)	Duplication (frameshift variant)	Genetic non-acquired premature ovarian failure	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 1709921	NM_023067.4(FOXL2):c.871del (p.His291fs)	FOXL2 (H291fs)	Deletion (frameshift variant)	Premature ovarian failure 3	GPathogenic
Select item 369932	NM_023067.4(FOXL2):c.840_871del (p.Ala283fs)	FOXL2 (A283fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 180599	NM_023067.4(FOXL2):c.843_865dup (p.His289fs)	FOXL2 (H289fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Gnot provided
Select item 2203450	NM_023067.4(FOXL2):c.860del (p.Pro287fs)	FOXL2 (P287fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 162045	NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)	FOXL2 (P287fs)	Duplication (frameshift variant)	FOXL2-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 2170714	NM_023067.4(FOXL2):c.858T>G (p.Pro286=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 180598	NM_023067.4(FOXL2):c.841_857dup (p.Pro287fs)	FOXL2 (P287fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369933	NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs)	FOXL2 (P286fs)	Indel (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 180600	NM_023067.4(FOXL2):c.854del (p.Pro285fs)	FOXL2 (P285fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2715439	NM_023067.4(FOXL2):c.840_850dup (p.Pro284fs)	FOXL2 (P284fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 634983	NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs)	FOXL2 (P281fs)	Insertion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3068252	NM_023067.4(FOXL2):c.841C>A (p.Pro281Thr)	FOXL2 (P281T)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 2740608	NM_023067.4(FOXL2):c.839C>G (p.Pro280Arg)	FOXL2 (P280R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541757	NM_023067.4(FOXL2):c.830T>C (p.Leu277Pro)	FOXL2 (L277P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 369931	NM_023067.4(FOXL2):c.827dup (p.Leu277fs)	FOXL2 (L277fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 261663	NM_023067.4(FOXL2):c.819G>C (p.Ser273=)	FOXL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 634982	NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter)	FOXL2 (S273*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2255427	NM_023067.4(FOXL2):c.808G>T (p.Val270Leu)	FOXL2 (V270L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255844	NM_023067.4(FOXL2):c.805G>A (p.Gly269Ser)	FOXL2 (G269S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 4858	NM_023067.4(FOXL2):c.804dup (p.Gly269fs)	FOXL2 (G269fs)	Duplication (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 369930	NM_023067.4(FOXL2):c.804del (p.Gly269fs)	FOXL2 (G269fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369929	NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr)	FOXL2 (P267T)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely benign
Select item 2063495	NM_023067.4(FOXL2):c.791T>C (p.Met264Thr)	FOXL2 (M264T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255995	NM_023067.4(FOXL2):c.789C>A (p.Ser263Arg)	FOXL2 (S263R)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 634981	NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter)	FOXL2 (Q262*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 1687548	NM_023067.4(FOXL2):c.775_778del (p.Thr259fs)	FOXL2 (T259fs)	Microsatellite (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GPathogenic/Likely pathogenic
Select item 369928	NM_023067.4(FOXL2):c.777dup (p.Arg260fs)	FOXL2 (R260fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634980	NM_023067.4(FOXL2):c.773del (p.Tyr258fs)	FOXL2 (Y258fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 4869	NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn)	FOXL2 (Y258N)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 2113869	NM_023067.4(FOXL2):c.770C>G (p.Pro257Arg)	FOXL2 (P257R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 634978	NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs)	FOXL2 (P257fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 1705491	NM_023067.4(FOXL2):c.768dup (p.Pro257fs)	FOXL2 (P257fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2151980	NM_023067.4(FOXL2):c.768del (p.Pro257fs)	FOXL2 (P257fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1955748	NM_023067.4(FOXL2):c.762G>A (p.Ser254=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2780030	NM_023067.4(FOXL2):c.761C>A (p.Ser254Ter)	FOXL2 (S254*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2203451	NM_023067.4(FOXL2):c.752_759del (p.Pro251fs)	FOXL2 (P251fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 369927	NM_023067.4(FOXL2):c.748_749del (p.Gly250fs)	FOXL2 (G250fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 2031098	NM_023067.4(FOXL2):c.734T>G (p.Val245Gly)	FOXL2 (V245G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654194	NM_023067.4(FOXL2):c.720C>A (p.Gly240=)	FOXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 634979	NM_023067.4(FOXL2):c.718G>T (p.Gly240Cys)	FOXL2 (G240C)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 2339248	NM_023067.4(FOXL2):c.709G>A (p.Gly237Ser)	FOXL2 (G237S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2815555	NM_023067.4(FOXL2):c.376_705del (p.Asn126_Gly235del)	FOXL2	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 369926	NM_023067.4(FOXL2):c.678_705del (p.Ala227fs)	FOXL2 (A227fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369925	NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup)	FOXL2	Duplication (inframe_insertion)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 180595	NM_023067.4(FOXL2):c.661_702= (p.Ala221_Ala234=)	FOXL2	Indel (no sequence alteration)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GBenign
Select item 4854	NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)	FOXL2	Duplication (inframe_insertion)	not provided +1 more	GPathogenic
Select item 559900	NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro)	FOXL2	Insertion (inframe_indel)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
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 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 2057601	NM_023067.4(FOXL2):c.669_695del (p.Ala226_Ala234del)	FOXL2	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 369924	NM_023067.4(FOXL2):c.674_695del (p.Ala225fs)	FOXL2 (A225fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369923	NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup)	FOXL2	Duplication (inframe_insertion)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GPathogenic
Select item 4868	NM_023067.4(FOXL2):c.663_692del (p.Ala225_Ala234del)	FOXL2	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 369922	NM_023067.4(FOXL2):c.662_689del (p.Ala221fs)	FOXL2 (A221fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 3256534	NM_023067.4(FOXL2):c.684del (p.Ala229fs)	FOXL2 (A229fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634977	NM_023067.4(FOXL2):c.669_681del (p.Ala224fs)	FOXL2 (A224fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 1318744	NM_023067.4(FOXL2):c.672_674del (p.Ala234del)	FOXL2 (A234del)	Deletion (inframe_deletion)	Premature ovarian failure 3 +2 more	GConflicting classifications of pathogenicity

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