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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL8A2
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
COL8A2
Single nucleotide variant
(3 prime UTR variant)
Corneal dystrophy, Fuchs endothelial, 1
+2 more
GBenign
COL8A2
(L450W +1 more)
Single nucleotide variant
(missense variant)
Posterior polymorphous corneal dystrophy 2
+1 more
GPathogenic
COL8A2
(Q455K +1 more)
Single nucleotide variant
(missense variant)
Posterior polymorphous corneal dystrophy 2
+1 more
GPathogenic
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