C0220663[trait identifier] AND "Wessex Regional Genetics Laboratory, S - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 162044	NM_023067.4(FOXL2):c.965_983dup (p.Thr329fs)	FOXL2 (T329fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 634986	NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs)	FOXL2 (A316fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 4866	NM_023067.4(FOXL2):c.855_871dup (p.His291fs)	FOXL2 (H291fs)	Duplication (frameshift variant)	not provided +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 162045	NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs)	FOXL2 (P287fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 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 369930	NM_023067.4(FOXL2):c.804del (p.Gly269fs)	FOXL2 (G269fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
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 634980	NM_023067.4(FOXL2):c.773del (p.Tyr258fs)	FOXL2 (Y258fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
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 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 4854	NM_023067.4(FOXL2):c.672_701dup (p.Ala225_Ala234dup)	FOXL2	Duplication (inframe_insertion)	not provided +1 more	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 634977	NM_023067.4(FOXL2):c.669_681del (p.Ala224fs)	FOXL2 (A224fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 180594	NM_023067.4(FOXL2):c.650C>T (p.Ser217Phe)	FOXL2 (S217F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 634976	NM_023067.4(FOXL2):c.551dup (p.Asp184fs)	FOXL2 (D184fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634975	NM_023067.4(FOXL2):c.549dup (p.Asp184fs)	FOXL2 (D184fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634974	NM_023067.4(FOXL2):c.525del (p.Cys176fs)	FOXL2 (C176fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634973	NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs)	FOXL2 (P157fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634972	NM_023067.4(FOXL2):c.399del (p.Cys134fs)	FOXL2 (C134fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369911	NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro)	FOXL2 (L130P)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 634971	NM_023067.4(FOXL2):c.387del (p.Leu130fs)	FOXL2 (L130fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634970	NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter)	FOXL2 (W128*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634969	NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer)	FOXL2	Deletion (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634968	NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter)	FOXL2 (Y127*)	Duplication (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634963	NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del)	FOXL2 (I113del)	Microsatellite (inframe_deletion)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369903	NM_023067.4(FOXL2):c.313_315del (p.Asn105del)	FOXL2 (N105del)	Deletion (inframe_deletion)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369902	NM_023067.4(FOXL2):c.311A>G (p.His104Arg)	FOXL2 (H104R)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634962	NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp)	FOXL2 (N100D)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634961	NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg)	FOXL2 (P89R)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634960	NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile)	FOXL2 (F88I)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634959	NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro)	FOXL2 (L77P)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634958	NM_023067.4(FOXL2):c.193A>G (p.Met65Val)	FOXL2 (M65V)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GPathogenic/Likely pathogenic
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 634957	NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn)	FOXL2 (I63N)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634955	NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs)	FOXL2 (Y59fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634956	NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp)	FOXL2 (Y59D)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634954	NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp)	FOXL2 (S58W)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634953	NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn)	FOXL2 (Y57N)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 634952	NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu)	FOXL2 (K54E)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634951	NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter)	FOXL2 (E19*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634967	NM_023067.4(FOXL2):c.52_53del (p.Pro18fs)	FOXL2 (P18fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 634966	NM_023067.4(FOXL2):c.18del (p.Glu7fs)	FOXL2 (E7fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic

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Items: 50