"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 385608	NM_012186.3(FOXE3):c.234G>A (p.Ala78=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GBenign/Likely benign
Select item 617853	NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser)	FOXE3, LINC01389 (P112S)	Single nucleotide variant (missense variant)	Congenital primary aphakia +2 more	GUncertain significance
Select item 260211	NM_012186.3(FOXE3):c.423G>A (p.Lys141=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 945230	NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3])	FOXE3, LINC01389	Microsatellite (inframe_insertion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 468250	NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)	FOXE3, LINC01389 (G196A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign/Likely benign
Select item 848730	NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser)	FOXE3, LINC01389 (P235S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 777909	NM_012186.3(FOXE3):c.828C>G (p.Pro276=)	FOXE3, LINC01389	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 289293	NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp)	LINC01389, FOXE3 (G310D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign