NM_182758.4(WDR72):c.2686C>T (p.Arg896Ter)Pathogenic
Renal tubular acidosis, distal, 4, with hemolytic anemia;Amelogenesis imperfecta hypomaturation type 2A3|Amelogenesis imperfecta hypomaturation type 2A3|Distal renal tubular acidosis|Renal tubulopathies
β
β
ββ2026β Residue 896
NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)Pathogenic
Amelogenesis imperfecta|Amelogenesis imperfecta hypomaturation type 2A3|not provided
β
β
ββ2024β Residue 30
NM_182758.4(WDR72):c.2019dup (p.Trp674fs)Likely pathogenic
Amelogenesis imperfecta|Amelogenesis imperfecta hypomaturation type 2A3
β
β
ββ2024β Residue 674
NM_182758.4(WDR72):c.2934G>A (p.Trp978Ter)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3|not provided
β
β
ββ2022β Residue 978
NM_182758.4(WDR72):c.883G>A (p.Ala295Thr)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2026β Residue 295
NM_182758.4(WDR72):c.2857del (p.Ser953fs)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3|Renal tubulopathies
β
βββ2025β Residue 953
NM_182758.4(WDR72):c.997A>T (p.Lys333Ter)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 333
NM_182758.4(WDR72):c.2383_2385delinsCC (p.Ala795fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 795
NM_182758.4(WDR72):c.552_554delinsGGTG (p.Lys185fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 185
NM_182758.4(WDR72):c.591+1G>CLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024
NM_182758.4(WDR72):c.1467_1468del (p.Val491fs)Pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 491
NM_182758.4(WDR72):c.1777dup (p.Arg593fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 593
NM_182758.4(WDR72):c.2078T>A (p.Leu693Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 693
NM_182758.4(WDR72):c.711_711+1delinsTTLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024
NM_182758.4(WDR72):c.655C>T (p.Arg219Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 219
NM_182758.4(WDR72):c.868_880del (p.Lys290fs)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 290
NM_182758.4(WDR72):c.858-2A>GLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024
NM_182758.4(WDR72):c.166G>T (p.Glu56Ter)Likely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024β Residue 56
NM_182758.4(WDR72):c.1348+1G>TLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024
NM_182758.4(WDR72):c.858-1G>CLikely pathogenic
Amelogenesis imperfecta hypomaturation type 2A3
β
βββ2024