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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX30
(T425A +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GPathogenic
DHX30
(R782W +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GPathogenic
DHX30
(P757R +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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