U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX30
(R782W +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GPathogenic
DHX30
(R743P +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GLikely pathogenic
DHX30
(P757R +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
Format
Sort by
Choose Destination