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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)
Inborn genetic diseases
+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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