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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PXDN
Duplication
(nonsense)
Anterior segment dysgenesis 7
GPathogenic
PXDN
(C857R)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 7
GUncertain significance
PXDN
(C857fs)
Deletion
(frameshift variant)
Anterior segment dysgenesis 7
GPathogenic
PXDN
(S759L)
Single nucleotide variant
(missense variant)
Anterior segment dysgenesis 7
GPathogenic
PXDN
(V233fs)
Duplication
(frameshift variant)
Anterior segment dysgenesis 7
GPathogenic
PXDN
(M1V)
Single nucleotide variant
(missense variant +1 more)
Anterior segment dysgenesis 7
GPathogenic
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