ClinVar for MedGen (Select 443984) - ClinVar - NCBI

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Items: 11

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 48701.	NM_023067.4(FOXL2):c.684_698dup (p.Ala234_Gly235insAlaAlaAlaAlaAla) GRCh37: Chr3:138664866-138664867 GRCh38: Chr3:138946024-138946025	FOXL2		BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 48672.	NM_023067.4(FOXL2):c.959dup (p.Gln321fs) GRCh37: Chr3:138664605-138664606 GRCh38: Chr3:138945763-138945764	FOXL2	Q321fs	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	Pathogenic (Mar 1, 2003)	no assertion criteria provided
Select item 48663.	NM_023067.4(FOXL2):c.855_871dup (p.His291fs) GRCh37: Chr3:138664693-138664694 GRCh38: Chr3:138945851-138945852	FOXL2	H291fs	not provided, Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 48644.	NM_023067.4(FOXL2):c.295C>T (p.Gln99Ter) GRCh37: Chr3:138665270 GRCh38: Chr3:138946428	FOXL2	Q99*	not provided	Likely pathogenic (Nov 30, 2022)	criteria provided, single submitter
Select item 48635.	NM_023067.4(FOXL2):c.251T>G (p.Ile84Ser) GRCh37: Chr3:138665314 GRCh38: Chr3:138946472	FOXL2	I84S	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	Pathogenic (Feb 1, 2003)	no assertion criteria provided
Select item 48616.	NM_023067.4(FOXL2):c.822C>G (p.Tyr274Ter) GRCh37: Chr3:138664743 GRCh38: Chr3:138945901	FOXL2	Y274*	Premature ovarian failure 3, Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 48607.	NM_023067.4(FOXL2):c.157C>T (p.Gln53Ter) GRCh37: Chr3:138665408 GRCh38: Chr3:138946566	FOXL2	Q53*	not provided	Pathogenic (Jul 23, 2018)	criteria provided, single submitter
Select item 48588.	NM_023067.4(FOXL2):c.804dup (p.Gly269fs) GRCh37: Chr3:138664760-138664761 GRCh38: Chr3:138945918-138945919	FOXL2	G269fs	not provided, Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Mar 14, 2017)	criteria provided, multiple submitters, no conflicts
Select item 48569.	NM_023067.4(FOXL2):c.912_919dup (p.Pro307fs) GRCh37: Chr3:138664645-138664646 GRCh38: Chr3:138945803-138945804	FOXL2	P307fs	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	Pathogenic (Jul 15, 2001)	no assertion criteria provided
Select item 485510.	NM_023067.4(FOXL2):c.53_54del (p.Pro18fs) GRCh37: Chr3:138665511-138665512 GRCh38: Chr3:138946669-138946670	FOXL2	P18fs	BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I	Pathogenic (Jul 15, 2001)	no assertion criteria provided
Select item 485311.	NM_023067.4(FOXL2):c.655C>T (p.Gln219Ter) GRCh37: Chr3:138664910 GRCh38: Chr3:138946068	FOXL2	Q219*	Blepharophimosis, ptosis, and epicanthus inversus syndrome	Pathogenic (Nov 3, 2016)	criteria provided, single submitter