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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPTN, LOC108903148
(E50K)
Single nucleotide variant
(missense variant)
Glaucoma 1, open angle, E
GPathogenic
LOC108903148, LOC108903149
+1 more
Deletion
(splice acceptor variant +1 more)
Amyotrophic lateral sclerosis type 12
GPathogenic
LOC108903148, OPTN
(M98K)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
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