"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC19A3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446038	NM_025243.4(SLC19A3):c.980-14A>G	SLC19A3	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 334879	NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val)	SLC19A3 (G326V)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GUncertain significance
Select item 533549	NM_025243.4(SLC19A3):c.597dup (p.His200fs)	SLC19A3 (H200fs)	Duplication (frameshift variant)	Biotin-responsive basal ganglia disease +1 more	GPathogenic/Likely pathogenic
Select item 369673	NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)	SLC19A3 (Y113H)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GPathogenic/Likely pathogenic
Select item 130321	NM_025243.4(SLC19A3):c.309G>A (p.Val103=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 130322	NM_025243.4(SLC19A3):c.42C>T (p.Tyr14=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

ClinVar