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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTM1
(V324fs +1 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
MTM1
Single nucleotide variant
(intron variant)
Centronuclear myopathy
+2 more
GPathogenic/Likely pathogenic
MTM1
(F421V +1 more)
Single nucleotide variant
(missense variant)
Severe X-linked myotubular myopathy
GLikely pathogenic
MTM1
Copy number loss
Severe X-linked myotubular myopathy
GPathogenic
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