NM_000276.4(OCRL):c.1477C>T (p.Arg493Trp)Pathogenic
Dent disease type 2|Lowe syndrome
β
β
ββ2025β Residue 493
NM_000276.4(OCRL):c.2530C>T (p.Arg844Ter)Pathogenic
Lowe syndrome|not provided|Dent disease type 2;Lowe syndrome
β
β
ββ2025β Residue 844
NM_000276.4(OCRL):c.560+1G>CPathogenic
Lowe syndrome|Dent disease type 2;Lowe syndrome
β
β
ββ2025
NM_000276.4(OCRL):c.952C>T (p.Arg318Cys)Pathogenic
Dent disease type 2|Lowe syndrome|not provided|OCRL-related disorder|Dent disease type 2;Lowe syndrome
β
β
ββ2025β Residue 318
NM_000276.4(OCRL):c.1000C>T (p.Arg334Ter)Pathogenic
Lowe syndrome|not provided
β
β
ββ2025β Residue 334
NM_000276.4(OCRL):c.260del (p.Gln87fs)Pathogenic
OCRL-related disorder|Dent disease type 2
β
β
ββ2025β Residue 87
NM_000276.4(OCRL):c.1925_1926del (p.Ser642fs)Pathogenic
Lowe syndrome|not provided
β
β
ββ2025β Residue 642
NM_000276.4(OCRL):c.1987C>T (p.Arg663Ter)Pathogenic
Lowe syndrome|not provided
β
β
ββ2025β Residue 663
NM_000276.4(OCRL):c.1621C>T (p.Arg541Ter)Pathogenic
Lowe syndrome|Nephrolithiasis/nephrocalcinosis|not provided
β
β
ββ2025β Residue 541
NM_000276.4(OCRL):c.1498C>T (p.Arg500Ter)Pathogenic
Lowe syndrome
β
β
ββ2024β Residue 500
NM_000276.4(OCRL):c.2083C>T (p.Arg695Ter)Pathogenic
Lowe syndrome|Dent disease type 2;Lowe syndrome|not provided
β
β
ββ2024β Residue 695
NM_000276.4(OCRL):c.953G>A (p.Arg318His)Pathogenic
Lowe syndrome|Lowe syndrome;Dent disease type 2|OCRL-related disorder
β
β
ββ2024β Residue 318
NM_000276.4(OCRL):c.2360_2361del (p.Val787fs)Pathogenic
not provided|Lowe syndrome
β
β
ββ2024β Residue 787
NM_000276.4(OCRL):c.940-11G>APathogenic
not provided|Dent disease type 2;Lowe syndrome|Dent disease type 2|Lowe syndrome|Neurodevelopmental delay
β
β
ββ2024
NM_000276.4(OCRL):c.2309_2312del (p.Asp770fs)Pathogenic
Lowe syndrome|not provided
β
β
ββ2024β Residue 770
NM_000276.4(OCRL):c.2581G>A (p.Ala861Thr)Pathogenic
Lowe syndrome|Thyroid cancer, nonmedullary, 1|Nonpapillary renal cell carcinoma
β
β
ββ2024β Residue 861
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)Pathogenic
Lowe syndrome|Dent disease type 2|not provided
β
β
ββ2024β Residue 822
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter)Pathogenic
not provided|Lowe syndrome|Dent disease type 2;Lowe syndrome
β
β
ββ2024β Residue 810
NM_000276.4(OCRL):c.1499G>A (p.Arg500Gln)Pathogenic
Lowe syndrome|not provided
β
β
ββ2023β Residue 500
NM_000276.4(OCRL):c.1442_1443del (p.Asp480_Ser481insTer)Pathogenic
Lowe syndrome|not provided
β
β
ββ2023β Residue 480