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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC19A3
(A371V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC19A3
Deletion
(intron variant)
not provided
+3 more
GBenign
SLC19A3
Single nucleotide variant
(intron variant)
Biotin-responsive basal ganglia disease
GLikely benign
SLC19A3
(I207M)
Single nucleotide variant
(missense variant)
Biotin-responsive basal ganglia disease
+2 more
GConflicting classifications of pathogenicity
SLC19A3
(V174I)
Single nucleotide variant
(missense variant)
Biotin-responsive basal ganglia disease
+1 more
GBenign
SLC19A3
(G141S)
Single nucleotide variant
(missense variant)
Biotin-responsive basal ganglia disease
+2 more
GBenign/Likely benign
SLC19A3
Single nucleotide variant
(synonymous variant)
Biotin-responsive basal ganglia disease
+2 more
GBenign/Likely benign
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