ClinVar for MedGen (Select 66312) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25721971.	NM_023067.4(FOXL2):c.927del (p.Pro310fs) GRCh37: Chr3:138664638 GRCh38: Chr3:138945796	FOXL2	P310fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Apr 4, 2023)	criteria provided, single submitter
Select item 24313952.	NM_023067.4(FOXL2):c.210C>A (p.Ser70Arg) GRCh37: Chr3:138665355 GRCh38: Chr3:138946513	FOXL2	S70R	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 18, 2022)	criteria provided, single submitter
Select item 17056343.	NM_023067.4(FOXL2):c.214G>T (p.Glu72Ter) GRCh37: Chr3:138665351 GRCh38: Chr3:138946509	FOXL2	E72*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 17054914.	NM_023067.4(FOXL2):c.768dup (p.Pro257fs) GRCh37: Chr3:138664796-138664797 GRCh38: Chr3:138945954-138945955	FOXL2	P257fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16992415.	NM_023067.4(FOXL2):c.340A>T (p.Lys114Ter) GRCh37: Chr3:138665225 GRCh38: Chr3:138946383	FOXL2	K114*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 16875486.	NM_023067.4(FOXL2):c.775_778del (p.Thr259fs) GRCh37: Chr3:138664787-138664790 GRCh38: Chr3:138945945-138945948	FOXL2	T259fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome, not provided	Pathogenic/Likely pathogenic (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13187447.	NM_023067.4(FOXL2):c.672_674del (p.Ala234del) GRCh37: Chr3:138664891-138664893 GRCh38: Chr3:138946049-138946051	FOXL2	A234del	not provided, Blepharophimosis, ptosis, and epicanthus inversus syndrome, Premature ovarian failure 3	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 8299438.	NM_023067.4(FOXL2):c.266C>A (p.Pro89Gln) GRCh37: Chr3:138665299 GRCh38: Chr3:138946457	FOXL2	P89Q	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Mar 28, 2019)	no assertion criteria provided
Select item 6349879.	NM_023067.4(FOXL2):c.948_955del (p.Pro317fs) GRCh37: Chr3:138664610-138664617 GRCh38: Chr3:138945768-138945775	FOXL2	P317fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 63498610.	NM_023067.4(FOXL2):c.937_944dup (p.Ala316fs) GRCh37: Chr3:138664620-138664621 GRCh38: Chr3:138945778-138945779	FOXL2	A316fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2016)	no assertion criteria provided
Select item 63498511.	NM_023067.4(FOXL2):c.901_911dup (p.Pro305fs) GRCh37: Chr3:138664653-138664654 GRCh38: Chr3:138945811-138945812	FOXL2	P305fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2016)	no assertion criteria provided
Select item 63498412.	NM_023067.4(FOXL2):c.935_997delinsGGCGGCGGCG (p.His312fs) GRCh37: Chr3:138664568-138664630 GRCh38: Chr3:138945726-138945788	FOXL2	H312fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2015)	no assertion criteria provided
Select item 63498313.	NM_023067.4(FOXL2):c.841_842insT (p.Pro281fs) GRCh37: Chr3:138664723-138664724 GRCh38: Chr3:138945881-138945882	FOXL2	P281fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2011)	no assertion criteria provided
Select item 63498214.	NM_023067.4(FOXL2):c.818C>A (p.Ser273Ter) GRCh37: Chr3:138664747 GRCh38: Chr3:138945905	FOXL2	S273*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2015)	no assertion criteria provided
Select item 63498115.	NM_023067.4(FOXL2):c.784C>T (p.Gln262Ter) GRCh37: Chr3:138664781 GRCh38: Chr3:138945939	FOXL2	Q262*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 63498016.	NM_023067.4(FOXL2):c.773del (p.Tyr258fs) GRCh37: Chr3:138664792 GRCh38: Chr3:138945950	FOXL2	Y258fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2015)	no assertion criteria provided
Select item 63497917.	NM_023067.4(FOXL2):c.718G>T (p.Gly240Cys) GRCh37: Chr3:138664847 GRCh38: Chr3:138946005	FOXL2	G240C	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Jan 1, 2014)	no assertion criteria provided
Select item 63497818.	NM_023067.4(FOXL2):c.675_769dup (p.Pro257fs) GRCh37: Chr3:138664795-138664796 GRCh38: Chr3:138945953-138945954	FOXL2	P257fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 63497719.	NM_023067.4(FOXL2):c.669_681del (p.Ala224fs) GRCh37: Chr3:138664884-138664896 GRCh38: Chr3:138946042-138946054	FOXL2	A224fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2010)	no assertion criteria provided
Select item 63497620.	NM_023067.4(FOXL2):c.551dup (p.Asp184fs) GRCh37: Chr3:138665013-138665014 GRCh38: Chr3:138946171-138946172	FOXL2	D184fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2010)	no assertion criteria provided
Select item 63497521.	NM_023067.4(FOXL2):c.549dup (p.Asp184fs) GRCh37: Chr3:138665015-138665016 GRCh38: Chr3:138946173-138946174	FOXL2	D184fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 63497422.	NM_023067.4(FOXL2):c.525del (p.Cys176fs) GRCh37: Chr3:138665040 GRCh38: Chr3:138946198	FOXL2	C176fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2017)	no assertion criteria provided
Select item 63497323.	NM_023067.4(FOXL2):c.445_469dup (p.Pro157fs) GRCh37: Chr3:138665095-138665096 GRCh38: Chr3:138946253-138946254	FOXL2	P157fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2010)	no assertion criteria provided
Select item 63497224.	NM_023067.4(FOXL2):c.399del (p.Cys134fs) GRCh37: Chr3:138665166 GRCh38: Chr3:138946324	FOXL2	C134fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2012)	no assertion criteria provided
Select item 63497125.	NM_023067.4(FOXL2):c.387del (p.Leu130fs) GRCh37: Chr3:138665178 GRCh38: Chr3:138946336	FOXL2	L130fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2011)	no assertion criteria provided
Select item 63497026.	NM_023067.4(FOXL2):c.384G>A (p.Trp128Ter) GRCh37: Chr3:138665181 GRCh38: Chr3:138946339	FOXL2	W128*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 63496927.	NM_023067.4(FOXL2):c.384del (p.Tyr127_Trp128insTer) GRCh37: Chr3:138665181 GRCh38: Chr3:138946339	FOXL2		Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2016)	no assertion criteria provided
Select item 63496828.	NM_023067.4(FOXL2):c.377_380dup (p.Tyr127Ter) GRCh37: Chr3:138665184-138665185 GRCh38: Chr3:138946342-138946343	FOXL2	Y127*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 63496729.	NM_023067.4(FOXL2):c.52_53del (p.Pro18fs) GRCh37: Chr3:138665512-138665513 GRCh38: Chr3:138946670-138946671	FOXL2	P18fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2010)	no assertion criteria provided
Select item 63496630.	NM_023067.4(FOXL2):c.18del (p.Glu7fs) GRCh37: Chr3:138665547 GRCh38: Chr3:138946705	FOXL2	E7fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 63496531.	NM_023067.4(FOXL2):c.1103del (p.Gly368fs) GRCh37: Chr3:138664462 GRCh38: Chr3:138945620	FOXL2	G368fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 63496432.	NM_023067.4(FOXL2):c.998dup (p.Ala334fs) GRCh37: Chr3:138664566-138664567 GRCh38: Chr3:138945724-138945725	FOXL2	A334fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2015)	no assertion criteria provided
Select item 63496333.	NM_023067.4(FOXL2):c.335TCA[1] (p.Ile113del) GRCh37: Chr3:138665225-138665227 GRCh38: Chr3:138946383-138946385	FOXL2	I113del	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2017)	no assertion criteria provided
Select item 63496234.	NM_023067.4(FOXL2):c.298A>G (p.Asn100Asp) GRCh37: Chr3:138665267 GRCh38: Chr3:138946425	FOXL2	N100D	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 63496135.	NM_023067.4(FOXL2):c.266C>G (p.Pro89Arg) GRCh37: Chr3:138665299 GRCh38: Chr3:138946457	FOXL2	P89R	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2019)	no assertion criteria provided
Select item 63496036.	NM_023067.4(FOXL2):c.262T>A (p.Phe88Ile) GRCh37: Chr3:138665303 GRCh38: Chr3:138946461	FOXL2	F88I	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 63495937.	NM_023067.4(FOXL2):c.230T>C (p.Leu77Pro) GRCh37: Chr3:138665335 GRCh38: Chr3:138946493	FOXL2	L77P	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2010)	criteria provided, single submitter
Select item 63495838.	NM_023067.4(FOXL2):c.193A>G (p.Met65Val) GRCh37: Chr3:138665372 GRCh38: Chr3:138946530	FOXL2	M65V	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2011)	criteria provided, single submitter
Select item 63495739.	NM_023067.4(FOXL2):c.188T>A (p.Ile63Asn) GRCh37: Chr3:138665377 GRCh38: Chr3:138946535	FOXL2	I63N	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2017)	no assertion criteria provided
Select item 63495640.	NM_023067.4(FOXL2):c.175T>G (p.Tyr59Asp) GRCh37: Chr3:138665390 GRCh38: Chr3:138946548	FOXL2	Y59D	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2017)	no assertion criteria provided
Select item 63495541.	NM_023067.4(FOXL2):c.174_186del (p.Tyr59fs) GRCh37: Chr3:138665379-138665391 GRCh38: Chr3:138946537-138946549	FOXL2	Y59fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 63495442.	NM_023067.4(FOXL2):c.173C>G (p.Ser58Trp) GRCh37: Chr3:138665392 GRCh38: Chr3:138946550	FOXL2	S58W	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2018)	no assertion criteria provided
Select item 63495343.	NM_023067.4(FOXL2):c.169T>A (p.Tyr57Asn) GRCh37: Chr3:138665396 GRCh38: Chr3:138946554	FOXL2	Y57N	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Jan 1, 2014)	no assertion criteria provided
Select item 63495244.	NM_023067.4(FOXL2):c.160A>G (p.Lys54Glu) GRCh37: Chr3:138665405 GRCh38: Chr3:138946563	FOXL2	K54E	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2017)	no assertion criteria provided
Select item 63495145.	NM_023067.4(FOXL2):c.55G>T (p.Glu19Ter) GRCh37: Chr3:138665510 GRCh38: Chr3:138946668	FOXL2	E19*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jan 1, 2013)	no assertion criteria provided
Select item 55990046.	NM_023067.4(FOXL2):c.700_701insAGCGGCTGCAGCAGCTGCGGCTGCAGCCGC (p.Ala234delinsGluArgLeuGlnGlnLeuArgLeuGlnProPro) GRCh37: Chr3:138664864-138664865 GRCh38: Chr3:138946022-138946023	FOXL2		Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jul 29, 2014)	criteria provided, single submitter
Select item 43355447.	Single allele GRCh37: Chr3:138925589-139157532	COPB2, MRPS22		Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Aug 22, 2017)	no assertion criteria provided
Select item 39761248.	NM_023067.4(FOXL2):c.490A>T (p.Lys164Ter) GRCh37: Chr3:138665075 GRCh38: Chr3:138946233	FOXL2	K164*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic	no assertion criteria provided
Select item 37530349.	NM_023067.4(FOXL2):c.102dup (p.Gly35fs) GRCh37: Chr3:138665462-138665463 GRCh38: Chr3:138946620-138946621	FOXL2	G35fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 7, 2016)	no assertion criteria provided
Select item 36993850.	NM_023067.4(FOXL2):c.1011del (p.Thr338fs) GRCh37: Chr3:138664554 GRCh38: Chr3:138945712	FOXL2	T338fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993751.	NM_023067.4(FOXL2):c.982del (p.Ala328fs) GRCh37: Chr3:138664583 GRCh38: Chr3:138945741	FOXL2	A328fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993652.	NM_023067.4(FOXL2):c.951_961dup (p.Gln321fs) GRCh37: Chr3:138664603-138664604 GRCh38: Chr3:138945761-138945762	FOXL2	Q321fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993553.	NM_023067.4(FOXL2):c.907_926dup (p.His312fs) GRCh37: Chr3:138664638-138664639 GRCh38: Chr3:138945796-138945797	FOXL2	H312fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993454.	NM_023067.4(FOXL2):c.892dup (p.His298fs) GRCh37: Chr3:138664672-138664673 GRCh38: Chr3:138945830-138945831	FOXL2	H298fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993355.	NM_023067.4(FOXL2):c.856_857delinsA (p.Pro286fs) GRCh37: Chr3:138664708-138664709 GRCh38: Chr3:138945866-138945867	FOXL2	P286fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993256.	NM_023067.4(FOXL2):c.840_871del (p.Ala283fs) GRCh37: Chr3:138664694-138664725 GRCh38: Chr3:138945852-138945883	FOXL2	A283fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993157.	NM_023067.4(FOXL2):c.827dup (p.Leu277fs) GRCh37: Chr3:138664737-138664738 GRCh38: Chr3:138945895-138945896	FOXL2	L277fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36993058.	NM_023067.4(FOXL2):c.804del (p.Gly269fs) GRCh37: Chr3:138664761 GRCh38: Chr3:138945919	FOXL2	G269fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36992959.	NM_023067.4(FOXL2):c.799C>A (p.Pro267Thr) GRCh37: Chr3:138664766 GRCh38: Chr3:138945924	FOXL2	P267T	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely benign (Nov 3, 2016)	criteria provided, single submitter
Select item 36992860.	NM_023067.4(FOXL2):c.777dup (p.Arg260fs) GRCh37: Chr3:138664787-138664788 GRCh38: Chr3:138945945-138945946	FOXL2	R260fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36992761.	NM_023067.4(FOXL2):c.748_749del (p.Gly250fs) GRCh37: Chr3:138664816-138664817 GRCh38: Chr3:138945974-138945975	FOXL2	G250fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36992662.	NM_023067.4(FOXL2):c.678_705del (p.Ala227fs) GRCh37: Chr3:138664860-138664887 GRCh38: Chr3:138946018-138946045	FOXL2	A227fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36992563.	NM_023067.4(FOXL2):c.674_703dup (p.Ala225_Ala234dup) GRCh37: Chr3:138664861-138664862 GRCh38: Chr3:138946019-138946020	FOXL2		Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36992464.	NM_023067.4(FOXL2):c.674_695del (p.Ala225fs) GRCh37: Chr3:138664870-138664891 GRCh38: Chr3:138946028-138946049	FOXL2	A225fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36992365.	NM_023067.4(FOXL2):c.663_692dup (p.Ala225_Ala234dup) GRCh37: Chr3:138664872-138664873 GRCh38: Chr3:138946030-138946031	FOXL2		not provided, Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Apr 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36992266.	NM_023067.4(FOXL2):c.662_689del (p.Ala221fs) GRCh37: Chr3:138664876-138664903 GRCh38: Chr3:138946034-138946061	FOXL2	A221fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36992167.	NM_023067.4(FOXL2):c.656A>T (p.Gln219Leu) GRCh37: Chr3:138664909 GRCh38: Chr3:138946067	FOXL2	Q219L	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36992068.	NM_023067.4(FOXL2):c.647C>T (p.Ala216Val) GRCh37: Chr3:138664918 GRCh38: Chr3:138946076	FOXL2	A216V	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36991969.	NM_023067.4(FOXL2):c.644A>G (p.Tyr215Cys) GRCh37: Chr3:138664921 GRCh38: Chr3:138946079	FOXL2	Y215C	Blepharophimosis, ptosis, and epicanthus inversus syndrome, not provided	Pathogenic/Likely pathogenic (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36991870.	NM_023067.4(FOXL2):c.632C>A (p.Ser211Ter) GRCh37: Chr3:138664933 GRCh38: Chr3:138946091	FOXL2	S211*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36991771.	NM_023067.4(FOXL2):c.630_651dup (p.Cys218fs) GRCh37: Chr3:138664913-138664914 GRCh38: Chr3:138946071-138946072	FOXL2	C218fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36991672.	NM_023067.4(FOXL2):c.618del (p.Pro207fs) GRCh37: Chr3:138664947 GRCh38: Chr3:138946105	FOXL2	P207fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36991573.	NM_023067.4(FOXL2):c.612G>A (p.Trp204Ter) GRCh37: Chr3:138664953 GRCh38: Chr3:138946111	FOXL2	W204*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36991474.	NM_023067.4(FOXL2):c.582C>G (p.Tyr194Ter) GRCh37: Chr3:138664983 GRCh38: Chr3:138946141	FOXL2	Y194*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36991375.	NM_023067.4(FOXL2):c.578A>G (p.Lys193Arg) GRCh37: Chr3:138664987 GRCh38: Chr3:138946145	FOXL2	K193R	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36991276.	NM_023067.4(FOXL2):c.576dup (p.Lys193fs) GRCh37: Chr3:138664988-138664989 GRCh38: Chr3:138946146-138946147	FOXL2	K193fs	not provided, Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36991177.	NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) GRCh37: Chr3:138665176 GRCh38: Chr3:138946334	FOXL2	L130P	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36991078.	NM_023067.4(FOXL2):c.389T>A (p.Leu130Gln) GRCh37: Chr3:138665176 GRCh38: Chr3:138946334	FOXL2	L130Q	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36990979.	NM_023067.4(FOXL2):c.353_476dup (p.His159fs) GRCh37: Chr3:138665088-138665089 GRCh38: Chr3:138946246-138946247	FOXL2	H159fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36990880.	NM_023067.4(FOXL2):c.340A>G (p.Lys114Glu) GRCh37: Chr3:138665225 GRCh38: Chr3:138946383	FOXL2	K114E	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36990781.	NM_023067.4(FOXL2):c.338del (p.Ile113fs) GRCh37: Chr3:138665227 GRCh38: Chr3:138946385	FOXL2	I113fs	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36990682.	NM_023067.4(FOXL2):c.319A>G (p.Ser107Gly) GRCh37: Chr3:138665246 GRCh38: Chr3:138946404	FOXL2	S107G	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36990583.	NM_023067.4(FOXL2):c.316C>T (p.Leu106Phe) GRCh37: Chr3:138665249 GRCh38: Chr3:138946407	FOXL2	L106F	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36990484.	NM_023067.4(FOXL2):c.314_319del (p.Asn105_Leu106del) GRCh37: Chr3:138665246-138665251 GRCh38: Chr3:138946404-138946409	FOXL2		Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36990385.	NM_023067.4(FOXL2):c.313_315del (p.Asn105del) GRCh37: Chr3:138665250-138665252 GRCh38: Chr3:138946408-138946410	FOXL2	N105del	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36990286.	NM_023067.4(FOXL2):c.311A>G (p.His104Arg) GRCh37: Chr3:138665254 GRCh38: Chr3:138946412	FOXL2	H104R	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36990187.	NM_023067.4(FOXL2):c.308G>T (p.Arg103Leu) GRCh37: Chr3:138665257 GRCh38: Chr3:138946415	FOXL2	R103L	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36990088.	NM_023067.4(FOXL2):c.308G>A (p.Arg103His) GRCh37: Chr3:138665257 GRCh38: Chr3:138946415	FOXL2	R103H	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36989989.	NM_023067.4(FOXL2):c.303C>G (p.Ser101Arg) GRCh37: Chr3:138665262 GRCh38: Chr3:138946420	FOXL2	S101R	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36989890.	NM_023067.4(FOXL2):c.293G>A (p.Trp98Ter) GRCh37: Chr3:138665272 GRCh38: Chr3:138946430	FOXL2	W98*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36989791.	NM_023067.4(FOXL2):c.292T>C (p.Trp98Arg) GRCh37: Chr3:138665273 GRCh38: Chr3:138946431	FOXL2	W98R	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36989692.	NM_023067.4(FOXL2):c.256G>C (p.Ala86Pro) GRCh37: Chr3:138665309 GRCh38: Chr3:138946467	FOXL2	A86P	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36989593.	NM_023067.4(FOXL2):c.233C>A (p.Ser78Tyr) GRCh37: Chr3:138665332 GRCh38: Chr3:138946490	FOXL2	S78Y	Inborn genetic diseases, Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36989494.	NM_023067.4(FOXL2):c.208A>G (p.Ser70Gly) GRCh37: Chr3:138665357 GRCh38: Chr3:138946515	FOXL2	S70G	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36989395.	NM_023067.4(FOXL2):c.205G>T (p.Glu69Ter) GRCh37: Chr3:138665360 GRCh38: Chr3:138946518	FOXL2	E69*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36989296.	NM_023067.4(FOXL2):c.195G>A (p.Met65Ile) GRCh37: Chr3:138665370 GRCh38: Chr3:138946528	FOXL2	M65I	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36989197.	NM_023067.4(FOXL2):c.187A>C (p.Ile63Leu) GRCh37: Chr3:138665378 GRCh38: Chr3:138946536	FOXL2	I63L	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Likely pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 36989098.	NM_023067.4(FOXL2):c.184_198dup (p.Leu62_Ala66dup) GRCh37: Chr3:138665366-138665367 GRCh38: Chr3:138946524-138946525	FOXL2		Blepharophimosis, ptosis, and epicanthus inversus syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 36988999.	NM_023067.4(FOXL2):c.173C>A (p.Ser58Ter) GRCh37: Chr3:138665392 GRCh38: Chr3:138946550	FOXL2	S58*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter
Select item 369888100.	NM_023067.4(FOXL2):c.171C>G (p.Tyr57Ter) GRCh37: Chr3:138665394 GRCh38: Chr3:138946552	FOXL2	Y57*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter

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