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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
INS, TH
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TH
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
TH
Single nucleotide variant
(synonymous variant)
Autosomal recessive DOPA responsive dystonia
+2 more
GBenign
TH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
TH
(V112M +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive DOPA responsive dystonia
+3 more
GBenign/Likely benign
TH
(I35T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
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