ClinVar for MedGen (Select 66312) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2734577	NM_023067.4(FOXL2):c.223C>T (p.Leu75Phe)	FOXL2 (L75F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 2431395	NM_023067.4(FOXL2):c.210C>A (p.Ser70Arg)	FOXL2 (S70R)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 1705634	NM_023067.4(FOXL2):c.214G>T (p.Glu72Ter)	FOXL2 (E72*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
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 1699241	NM_023067.4(FOXL2):c.340A>T (p.Lys114Ter)	FOXL2 (K114*)	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)	not provided +1 more	GPathogenic/Likely pathogenic
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
Select item 829943	NM_023067.4(FOXL2):c.266C>A (p.Pro89Gln)	FOXL2 (P89Q)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
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 634984	NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs)	FOXL2 (H312fs)	Indel (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 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 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 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 634978	NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs)	FOXL2 (P257fs)	Duplication (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 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 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 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
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 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 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 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 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 634955	NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs)	FOXL2 (Y59fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
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 559900	NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro)	FOXL2	Insertion (inframe_indel)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 433554	Single allele	COPB2, MRPS22	Deletion	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 397612	NM_023067.4(FOXL2):c.490A>T (p.Lys164Ter)	FOXL2 (K164*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 375303	NM_023067.4(FOXL2):c.102dup (p.Gly35fs)	FOXL2 (G35fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
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 369937	NM_023067.4(FOXL2):c.982del (p.Ala328fs)	FOXL2 (A328fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
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 369935	NM_023067.4(FOXL2):c.907_926dup (p.His312fs)	FOXL2 (H312fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
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 369933	NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs)	FOXL2 (P286fs)	Indel (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 369931	NM_023067.4(FOXL2):c.827dup (p.Leu277fs)	FOXL2 (L277fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 369928	NM_023067.4(FOXL2):c.777dup (p.Arg260fs)	FOXL2 (R260fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	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 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 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 369922	NM_023067.4(FOXL2):c.662_689del (p.Ala221fs)	FOXL2 (A221fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369921	NM_023067.4(FOXL2):c.656A>T (p.Gln219Leu)	FOXL2 (Q219L)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369920	NM_023067.4(FOXL2):c.647C>T (p.Ala216Val)	FOXL2 (A216V)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369919	NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys)	FOXL2 (Y215C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 369918	NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter)	FOXL2 (S211*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369917	NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs)	FOXL2 (C218fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369916	NM_023067.4(FOXL2):c.618del (p.Pro207fs)	FOXL2 (P207fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369915	NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter)	FOXL2 (W204*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GPathogenic
Select item 369914	NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter)	FOXL2 (Y194*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369913	NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg)	FOXL2 (K193R)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369912	NM_023067.4(FOXL2):c.576dup (p.Lys193fs)	FOXL2 (K193fs)	Duplication (frameshift variant)	not provided +2 more	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 369910	NM_023067.4(FOXL2):c.389T>A (p.Leu130Gln)	FOXL2 (L130Q)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369909	NM_023067.4(FOXL2):c.353_476dup (p.His159fs)	FOXL2 (H159fs)	Duplication (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369908	NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu)	FOXL2 (K114E)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369907	NM_023067.4(FOXL2):c.338del (p.Ile113fs)	FOXL2 (I113fs)	Deletion (frameshift variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369906	NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly)	FOXL2 (S107G)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369905	NM_023067.4(FOXL2):c.316C>T (p.Leu106Phe)	FOXL2 (L106F)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369904	NM_023067.4(FOXL2):c.314_319del (p.Asn105_Leu106del)	FOXL2	Deletion (inframe_deletion)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
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 369901	NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu)	FOXL2 (R103L)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369900	NM_023067.4(FOXL2):c.308G>A (p.Arg103His)	FOXL2 (R103H)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369899	NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg)	FOXL2 (S101R)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369898	NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter)	FOXL2 (W98*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369897	NM_023067.4(FOXL2):c.292T>C (p.Trp98Arg)	FOXL2 (W98R)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369896	NM_023067.4(FOXL2):c.256G>C (p.Ala86Pro)	FOXL2 (A86P)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369895	NM_023067.4(FOXL2):c.233C>A (p.Ser78Tyr)	FOXL2 (S78Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 369894	NM_023067.4(FOXL2):c.208A>G (p.Ser70Gly)	FOXL2 (S70G)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance
Select item 369893	NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter)	FOXL2 (E69*)	Single nucleotide variant (nonsense)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GPathogenic
Select item 369892	NM_023067.4(FOXL2):c.195G>A (p.Met65Ile)	FOXL2 (M65I)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome +1 more	GLikely pathogenic
Select item 369891	NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu)	FOXL2 (I63L)	Single nucleotide variant (missense variant)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GLikely pathogenic
Select item 369890	NM_023067.4(FOXL2):c.184_198dup (p.Leu62_Ala66dup)	FOXL2	Duplication (inframe_insertion)	Blepharophimosis, ptosis, and epicanthus inversus syndrome	GUncertain significance

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