C0010691[trait identifier] AND "Department of Urology, Hunan Children' - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446003	NM_000341.4(SLC3A1):c.183del (p.Val62fs)	SLC3A1 (V62fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 2446442	NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)	SLC3A1 (S111F)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446007	NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)	SLC3A1 (Q146*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 2446004	NM_000341.4(SLC3A1):c.1216G>T (p.Asp406Tyr)	SLC3A1 (D406Y)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446008	NM_000341.4(SLC3A1):c.1320G>T (p.Trp440Cys)	SLC3A1 (W440C)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 2446005	NM_000341.4(SLC3A1):c.1337G>A (p.Gly446Asp)	SLC3A1 (G446D)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446006	NM_000341.4(SLC3A1):c.1772_1773del (p.Arg591fs)	PREPL, SLC3A1 (R591fs)	Deletion (frameshift variant +1 more)	Cystinuria	GLikely pathogenic
Select item 2446009	NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)	SLC7A9 (F293S)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance

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