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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTM1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MTM1
(R421* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder
+3 more
GPathogenic
MTM1
(D431N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MTM1
(D433N +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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