"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215156	NM_025243.4(SLC19A3):c.1112C>T (p.Ala371Val)	SLC19A3 (A371V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 215155	NM_025243.4(SLC19A3):c.980-4del	SLC19A3	Deletion (intron variant)	not specified +3 more	GBenign
Select item 1285064	NM_025243.4(SLC19A3):c.980-10T>C	SLC19A3	Single nucleotide variant (intron variant)	Biotin-responsive basal ganglia disease	GLikely benign
Select item 215152	NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)	SLC19A3 (I207M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130324	NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)	SLC19A3 (V174I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 139123	NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)	SLC19A3 (G141S)	Single nucleotide variant (missense 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