"Athena Diagnostics"[submitter] AND "SLC19A3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 805463	NM_025243.4(SLC19A3):c.*8G>T	SLC19A3	Single nucleotide variant (3 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 288883	NM_025243.4(SLC19A3):c.1145G>A (p.Ser382Asn)	SLC19A3 (S382N)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GConflicting classifications of pathogenicity
Select item 501380	NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu)	SLC19A3 (F352L)	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 provided +3 more	GBenign
Select item 586594	NM_025243.4(SLC19A3):c.896T>C (p.Val299Ala)	SLC19A3 (V299A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139124	NM_025243.4(SLC19A3):c.756G>A (p.Leu252=)	SLC19A3	Single nucleotide variant (synonymous variant)	Biotin-responsive basal ganglia disease +2 more	GBenign
Select item 215152	NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met)	SLC19A3 (I207M)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 more	GConflicting classifications of pathogenicity
Select item 196528	NM_025243.4(SLC19A3):c.546G>A (p.Val182=)	SLC19A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 130324	NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile)	SLC19A3 (V174I)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GBenign
Select item 139123	NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser)	SLC19A3 (G141S)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +2 more	GBenign/Likely benign
Select item 290414	NM_025243.4(SLC19A3):c.399C>G (p.Pro133=)	SLC19A3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
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