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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TH
(E300A +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive DOPA responsive dystonia
GUncertain significance
TH
(L236P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive DOPA responsive dystonia
+1 more
GPathogenic/Likely pathogenic
TH
(R233H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TH
(R68H +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive DOPA responsive dystonia
+1 more
GUncertain significance
TH
(P45L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
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