NM_001127898.4(CLCN5):c.292C>T (p.Arg98Ter)Pathogenic
not provided|Dent disease type 1|Hypophosphatemic rickets, X-linked recessive;Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;X-linked recessive nephrolithiasis with renal failure
★★☆☆2025→ Residue 98
NM_001127898.4(CLCN5):c.310C>T (p.Arg104Ter)Pathogenic
Dent disease type 1|CLCN5-related disorder|Familial X-linked hypophosphatemic vitamin D refractory rickets|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure|not provided
★★☆☆2025→ Residue 104
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter)Pathogenic
Dent disease type 1|not provided|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure
★★☆☆2025→ Residue 788
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter)Pathogenic
Dent disease type 1|not provided
★★☆☆2025→ Residue 718
NM_001127898.4(CLCN5):c.1844G>A (p.Ser615Asn)Likely pathogenic
CLCN5-related disorder|not provided
★★☆☆2025→ Residue 615
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter)Pathogenic
Dent disease type 1|not provided|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis|Dent disease|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure
★★☆☆2025→ Residue 707
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp)Pathogenic
Dent disease type 1|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure|not provided
★★☆☆2025→ Residue 586
NM_001127898.4(CLCN5):c.941C>T (p.Ser314Leu)Pathogenic
Hypophosphatemic rickets, X-linked recessive|Dent disease type 1|not provided|X-linked recessive nephrolithiasis with renal failure;Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1|CLCN5-related disorder
★★☆☆2025→ Residue 314
NM_001127898.4(CLCN5):c.328del (p.Ser110fs)Pathogenic
Inborn genetic diseases|not provided
★★☆☆2025→ Residue 110
NM_001127898.4(CLCN5):c.871T>C (p.Cys291Arg)Likely pathogenic
Nephrotic syndrome|Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;X-linked recessive nephrolithiasis with renal failure|not provided
★★☆☆2025→ Residue 291
NM_001127898.4(CLCN5):c.1275T>G (p.Tyr425Ter)Pathogenic
Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;X-linked recessive nephrolithiasis with renal failure|not provided
★★☆☆2025→ Residue 425
NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)Pathogenic
Dent disease type 1|not provided|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure|Thyroid cancer, nonmedullary, 1
★★☆☆2024→ Residue 417
NM_001127898.4(CLCN5):c.1014+1G>APathogenic
X-linked recessive nephrolithiasis with renal failure;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis|X-linked recessive nephrolithiasis with renal failure
★★☆☆2024
NM_001127898.4(CLCN5):c.1329dup (p.Asn444fs)Pathogenic
Dent disease type 1|not provided
★★☆☆2024→ Residue 444
NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter)Likely pathogenic
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis|Dent disease type 1
★★☆☆2024→ Residue 687
NM_001127898.4(CLCN5):c.1633C>T (p.Gln545Ter)Likely pathogenic
Dent disease type 1|Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;X-linked recessive nephrolithiasis with renal failure;Dent disease type 1;Hypophosphatemic rickets, X-linked recessive
★★☆☆2024→ Residue 545
NM_001127898.4(CLCN5):c.933+1G>APathogenic
not provided|Dent disease type 1;Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis;Hypophosphatemic rickets, X-linked recessive;X-linked recessive nephrolithiasis with renal failure
★★☆☆2024
NM_001127898.4(CLCN5):c.1773TGT[1] (p.Val593del)Pathogenic
not provided
★★☆☆2024→ Residue 593
NM_001127898.4(CLCN5):c.1609C>T (p.Arg537Ter)Pathogenic
Dent disease type 1|not provided
★★☆☆2022→ Residue 537
NM_001127898.4(CLCN5):c.845del (p.Gly282fs)Pathogenic
not provided
★★☆☆2022→ Residue 282