"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC3A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336192	NM_000341.4(SLC3A1):c.572A>G (p.Glu191Gly)	SLC3A1 (E191G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 781945	NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)	SLC3A1 (F266S)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 336195	NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	SLC3A1 (R270*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 18115	NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	SLC3A1 (M467T)	Single nucleotide variant (missense variant)	Cystinuria +3 more	GPathogenic/Likely pathogenic
Select item 3380806	NM_000341.4(SLC3A1):c.1421G>A (p.Gly474Glu)	SLC3A1 (G474E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380807	NM_000341.4(SLC3A1):c.1735T>G (p.Tyr579Asp)	PREPL, SLC3A1 (Y579D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar