"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC19A3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464952	NM_025243.4(SLC19A3):c.1370G>A (p.Ser457Asn)	SLC19A3 (S457N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 4563	NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)	SLC19A3 (T422A)	Single nucleotide variant (missense variant)	Thiamine metabolism dysfunction syndrome 2 (biotin/thiamine-responsive basal ganglia disease type) +3 more	GPathogenic
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 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 130320	NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala)	SLC19A3 (V350A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 215155	NM_025243.4(SLC19A3):c.980-4del	SLC19A3	Deletion (intron variant)	not provided +3 more	GBenign
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 809182	NM_025243.4(SLC19A3):c.532G>A (p.Ala178Thr)	SLC19A3 (A174T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 285907	NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile)	SLC19A3 (V109I)	Single nucleotide variant (missense variant)	Biotin-responsive basal ganglia disease +1 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 2682817	NM_025243.4(SLC19A3):c.307G>A (p.Val103Met)	SLC19A3 (V103M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance