NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|Renal tubulopathies|not provided
β
β
ββ2026β Residue 433
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|not provided
β
β
ββ2025β Residue 336
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|not provided
β
β
ββ2024β Residue 528
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A|not provided
β
β
ββ2024β Residue 240
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)Likely pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A
β
β
ββ2024β Residue 528
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg)Pathogenic
Pseudohypoaldosteronism type 2A|not provided
β
βββ2025β Residue 309
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr)Likely pathogenic
Pseudohypoaldosteronism type 2A|Pseudohypoaldosteronism type 2D
β
βββ2024β Residue 427
NM_017415.3(KLHL3):c.1291C>T (p.Arg431Trp)Likely pathogenic
Pseudohypoaldosteronism type 2D
β
βββ2024β Residue 431
NM_017415.3(KLHL3):c.234G>A (p.Met78Ile)Likely pathogenic
Pseudohypoaldosteronism type 2D
β
βββ2024β Residue 78
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)Likely pathogenic
Pseudohypoaldosteronism type 2A|Pseudohypoaldosteronism type 2D
β
βββ2022β Residue 432
NM_017415.3(KLHL3):c.1554_1570dup (p.Asn524delinsSerLysTrpGlnThrTer)Pathogenic
Pseudohypoaldosteronism type 2D
β
βββ2021β Residue 524
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter)Likely pathogenic
Cerebral palsy
β
βββ2021β Residue 564
NM_017415.3(KLHL3):c.1000C>T (p.Pro334Ser)Likely pathogenic
Pseudohypoaldosteronism type 2D
β
βββ2021β Residue 334
NM_017415.3(KLHL3):c.139C>T (p.Gln47Ter)Likely pathogenic
not provided
β
βββ2018β Residue 47
NM_017415.3(KLHL3):c.1277C>T (p.Pro426Leu)Pathogenic
Pseudohypoaldosteronism type 2D
ββββ2012β Residue 426
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A
ββββ2012β Residue 410
NM_017415.3(KLHL3):c.1193C>T (p.Ala398Val)Pathogenic
Pseudohypoaldosteronism type 2D
ββββ2012β Residue 398
NM_017415.3(KLHL3):c.1587C>A (p.Asn529Lys)Pathogenic
Pseudohypoaldosteronism type 2D
ββββ2012β Residue 529
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter)Pathogenic
Pseudohypoaldosteronism type 2A|Pseudohypoaldosteronism type 2D
ββββ2012β Residue 470
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys)Pathogenic
Pseudohypoaldosteronism type 2D|Pseudohypoaldosteronism type 2A
ββββ2012β Residue 322