"Clinical Genetics, Academic Medical Center"[submitter] AND "FOXE1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435238	NM_004473.4(FOXE1):c.285A>G (p.Lys95=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 95096	NM_004473.4(FOXE1):c.387T>C (p.Leu129=)	FOXE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1284456	NM_004473.4(FOXE1):c.505GCC[12] (p.Ala179dup)	FOXE1	Microsatellite (inframe_insertion)	not specified	GBenign
Select item 522197	NM_004473.4(FOXE1):c.505GCC[7] (p.Ala176_Ala179del)	FOXE1	Microsatellite (inframe_deletion)	Bamforth-Lazarus syndrome +2 more	GBenign/Likely benign
Select item 95097	NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del)	FOXE1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
Select item 522287	NM_004473.4(FOXE1):c.512_513insTGCCGCAGC (p.Ala177_Ala179dup)	FOXE1	Insertion (inframe_insertion)	Bamforth-Lazarus syndrome	GBenign
Select item 95098	NM_004473.4(FOXE1):c.825C>T (p.Ser275=)	FOXE1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

ClinVar