"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 987067	NM_025243.4(SLC19A3):c.1172+1G>A	SLC19A3	Single nucleotide variant (splice donor variant)	Biotin-responsive basal ganglia disease +1 more	GPathogenic/Likely pathogenic
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 533549	NM_025243.4(SLC19A3):c.597dup (p.His200fs)	SLC19A3 (H200fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic

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