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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC105370829, LOC108281154
+179 more
Inversion
Aromatase excess syndrome
GPathogenic
MNS1, TEX9
(R242*)
Single nucleotide variant
(nonsense +1 more)
MNS1-related disorder
+1 more
GPathogenic/Likely pathogenic
MNS1, TEX9
(E136fs)
Microsatellite
(frameshift variant)
Situs inversus
GLikely pathogenic
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