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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OPTN, LOC108903148
(K94Q)
Single nucleotide variant
(missense variant)
Motor neuron disease
GLikely pathogenic
OPTN
(Q314L)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
OPTN
(E446G)
Single nucleotide variant
(missense variant)
Motor neuron disease
GUncertain significance
OPTN
(M468R)
Single nucleotide variant
(missense variant)
Motor neuron disease
GLikely pathogenic
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