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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXE1
(P203R)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
+1 more
GUncertain significance
FOXE1
(R116S)
Single nucleotide variant
(missense variant)
Thyroid cancer, nonmedullary, 4
GLikely pathogenic
FOXE1
Microsatellite
(inframe_deletion)
Bamforth-Lazarus syndrome
+2 more
GBenign/Likely benign
FOXE1
(A248G)
Single nucleotide variant
(missense variant)
Bamforth-Lazarus syndrome
+2 more
GConflicting classifications of pathogenicity
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