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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPTN
(Q165*)
Single nucleotide variant
(nonsense)
Amyotrophic lateral sclerosis type 10
+3 more
GPathogenic/Likely pathogenic
OPTN
(K360fs)
Deletion
(frameshift variant)
Primary open angle glaucoma
+3 more
GPathogenic/Likely pathogenic