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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGBL1
(Q262P)
Single nucleotide variant
(missense variant)
Corneal dystrophy, Fuchs endothelial, 8
GUncertain significance
AGBL1, LOC102724452
Single nucleotide variant
(splice donor variant)
Corneal dystrophy, Fuchs endothelial, 8
GUncertain significance
AGBL1
(T329S)
Single nucleotide variant
(missense variant)
Corneal dystrophy, Fuchs endothelial, 8
+1 more
GUncertain significance
AGBL1
(C1036S +1 more)
Single nucleotide variant
(missense variant)
Corneal dystrophy, Fuchs endothelial, 8
GConflicting classifications of pathogenicity
AGBL1
(R1074* +1 more)
Single nucleotide variant
(missense variant +1 more)
Corneal dystrophy, Fuchs endothelial, 8
GUncertain significance
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