ClinVar (all) for Orgtrack (Select 509007) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446442	NM_000341.4(SLC3A1):c.332C>T (p.Ser111Phe)	SLC3A1 (S111F)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446441	NM_001009944.3(PKD1):c.7045G>T (p.Glu2349Ter)	PKD1 (E2349*)	Single nucleotide variant (nonsense)	Polycystic kidney disease, adult type	GPathogenic
Select item 2446438	Single allele	SRD5A2	Deletion	Hereditary xanthinuria type 1	GLikely pathogenic
Select item 2446009	NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)	SLC7A9 (F293S)	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 2446007	NM_000341.4(SLC3A1):c.436C>T (p.Gln146Ter)	SLC3A1 (Q146*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
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 2446005	NM_000341.4(SLC3A1):c.1337G>A (p.Gly446Asp)	SLC3A1 (G446D)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446004	NM_000341.4(SLC3A1):c.1216G>T (p.Asp406Tyr)	SLC3A1 (D406Y)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2446003	NM_000341.4(SLC3A1):c.183del (p.Val62fs)	SLC3A1 (V62fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 2446002	NM_020041.3(SLC2A9):c.929C>A (p.Ala310Asp)	SLC2A9 (A281D +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2446001	NM_000379.4(XDH):c.2006G>C (p.Gly669Ala)	XDH (G669A)	Single nucleotide variant (missense variant)	Hereditary xanthinuria type 1	GUncertain significance
Select item 2446000	NM_138413.4(HOGA1):c.793G>A (p.Ala265Thr)	HOGA1 (A102T +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria type 3	GUncertain significance