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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXE1
(L49fs)
Duplication
(frameshift variant)
Bamforth-Lazarus syndrome
GPathogenic
FOXE1
(E85*)
Single nucleotide variant
(nonsense)
Bamforth-Lazarus syndrome
GUncertain significance
FOXE1
(A118V)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
GUncertain significance
FOXE1
(P363A)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
GUncertain significance
FOXE1
(P289R)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
GUncertain significance
FOXE1
(A178V)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
GUncertain significance
FOXE1
Insertion
(inframe_insertion)
Bamforth-Lazarus syndrome
GBenign
FOXE1
Microsatellite
(inframe_deletion)
Bamforth-Lazarus syndrome
+2 more
GBenign/Likely benign
FOXE1
Single nucleotide variant
(synonymous variant)
Bamforth-Lazarus syndrome
+2 more
GBenign/Likely benign
FOXE1
(A248G)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
FOXE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FOXE1
Microsatellite
(inframe_deletion)
not specified
+2 more
GBenign
FOXE1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FOXE1
(R102C)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
GPathogenic
FOXE1
(S57N)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
GPathogenic
FOXE1
(A65V)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
GPathogenic
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