ClinVar for MedGen (Select 343420) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2443729	NM_004473.4(FOXE1):c.145dup (p.Leu49fs)	FOXE1 (L49fs)	Duplication (frameshift variant)	Bamforth-Lazarus syndrome	GPathogenic
Select item 2441540	NM_004473.4(FOXE1):c.253G>T (p.Glu85Ter)	FOXE1 (E85*)	Single nucleotide variant (nonsense)	Bamforth-Lazarus syndrome	GUncertain significance
Select item 1301665	NM_004473.4(FOXE1):c.353C>T (p.Ala118Val)	FOXE1 (A118V)	Single nucleotide variant (missense variant)	Bamforth-Lazarus syndrome	GUncertain significance
Select item 1031429	NM_004473.4(FOXE1):c.1087C>G (p.Pro363Ala)	FOXE1 (P363A)	Single nucleotide variant (missense variant)	Bamforth-Lazarus syndrome	GUncertain significance
Select item 1028765	NM_004473.4(FOXE1):c.866C>G (p.Pro289Arg)	FOXE1 (P289R)	Single nucleotide variant (missense variant)	Bamforth-Lazarus syndrome	GUncertain significance
Select item 997656	NM_004473.4(FOXE1):c.533C>T (p.Ala178Val)	FOXE1 (A178V)	Single nucleotide variant (missense variant)	Bamforth-Lazarus syndrome	GUncertain significance
Select item 522287	NM_004473.4(FOXE1):c.512_513insTGCCGCAGC (p.Ala177_Ala179dup)	FOXE1	Insertion (inframe_insertion)	Bamforth-Lazarus syndrome	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 435238	NM_004473.4(FOXE1):c.285A>G (p.Lys95=)	FOXE1	Single nucleotide variant (synonymous variant)	Bamforth-Lazarus syndrome +2 more	GBenign/Likely benign
Select item 208453	NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)	FOXE1 (A248G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 95098	NM_004473.4(FOXE1):c.825C>T (p.Ser275=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 95097	NM_004473.4(FOXE1):c.505GCC[9] (p.Ala178_Ala179del)	FOXE1	Microsatellite (inframe_deletion)	not specified +2 more	GBenign
Select item 95096	NM_004473.4(FOXE1):c.387T>C (p.Leu129=)	FOXE1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 6988	NM_004473.4(FOXE1):c.304C>T (p.Arg102Cys)	FOXE1 (R102C)	Single nucleotide variant (missense variant)	Bamforth-Lazarus syndrome	GPathogenic
Select item 6987	NM_004473.4(FOXE1):c.170G>A (p.Ser57Asn)	FOXE1 (S57N)	Single nucleotide variant (missense variant)	Bamforth-Lazarus syndrome	GPathogenic
Select item 6986	NM_004473.4(FOXE1):c.194C>T (p.Ala65Val)	FOXE1 (A65V)	Single nucleotide variant (missense variant)	Bamforth-Lazarus syndrome	GPathogenic