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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MNX1, MNX1-AS2
(L278F +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MNX1, MNX1-AS2
(F260L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MNX1, MNX1-AS2
(Q251fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
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