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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHX30
(H837Y +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GLikely benign
DHX30
(M171I +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(Y827F +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(R740C +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(R384C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
DHX30
(R743P +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GLikely pathogenic
DHX30
(R797* +2 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with severe motor impairment and absent language
GPathogenic
DHX30
(P131R +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+2 more
GConflicting classifications of pathogenicity
DHX30
(R25C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(R503C +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(S331L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(H51Q +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(V517I +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(E154K +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(L611F +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(S710G +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(V1096M +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(P1057L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(R1097Q +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(R1088W +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(R304H +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(D167E +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GConflicting classifications of pathogenicity
DHX30
(D673N +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GUncertain significance
DHX30
(L374F +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
Duplication
(splice donor variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GConflicting classifications of pathogenicity
DHX30
(R743Q +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GPathogenic
DHX30
(L661R +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GUncertain significance
DHX30
(L1136V +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(V910L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(P43L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GConflicting classifications of pathogenicity
DHX30
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(G462R +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(P423L +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GUncertain significance
DHX30
(T425A +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GPathogenic
DHX30
(L623I +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GUncertain significance
DHX30
(R869Q +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GConflicting classifications of pathogenicity
DHX30
(R785H +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
DHX30
(G781D +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
GPathogenic
DHX30
(R746C +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
DHX30
(H562R +2 more)
Single nucleotide variant
(missense variant)
Strabismus
+6 more
GPathogenic
DHX30
(R493H +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+7 more
GPathogenic
DHX30
(R782W +2 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with severe motor impairment and absent language
+1 more
GPathogenic
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