NM_016356.5(DCDC2):c.349-2A>GPathogenic
Nephronophthisis 19|not provided|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis|Autosomal recessive nonsyndromic hearing loss 66;Nephronophthisis 19;Isolated neonatal sclerosing cholangitis
β
β
ββ2025
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)Pathogenic
Isolated neonatal sclerosing cholangitis|Autosomal recessive nonsyndromic hearing loss 66;Nephronophthisis 19;Isolated neonatal sclerosing cholangitis|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
β
ββ2025β Residue 297
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)Pathogenic
not provided|Nephronophthisis 19|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis;Nephronophthisis 19|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
β
ββ2025β Residue 128
NM_016356.5(DCDC2):c.705-2A>GPathogenic
DCDC2-related disorder|Isolated neonatal sclerosing cholangitis;Autosomal recessive nonsyndromic hearing loss 66|Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66
β
β
ββ2025
NM_016356.5(DCDC2):c.294-2A>GPathogenic
not provided|Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
β
ββ2024
NM_016356.5(DCDC2):c.529dup (p.Ile177fs)Pathogenic
Isolated neonatal sclerosing cholangitis|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis|not provided|Autosomal recessive nonsyndromic hearing loss 66;Nephronophthisis 19;Isolated neonatal sclerosing cholangitis
β
β
ββ2024β Residue 177
NM_016356.5(DCDC2):c.942del (p.Gly315fs)Pathogenic
not provided|Isolated neonatal sclerosing cholangitis|Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis|DCDC2-related disorder|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
β
ββ2024β Residue 315
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)Pathogenic
Nephronophthisis 19|Isolated neonatal sclerosing cholangitis|Dyslexia, susceptibility to, 2|Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis|not provided
β
β
ββ2024β Residue 42
NM_016356.5(DCDC2):c.970dup (p.Ala324fs)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis|Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis|DCDC2-related disorder
β
β
ββ2023β Residue 324
NM_016356.5(DCDC2):c.1023+2T>CLikely pathogenic
Isolated neonatal sclerosing cholangitis;Autosomal recessive nonsyndromic hearing loss 66
β
βββ2025
NM_016356.5(DCDC2):c.2T>G (p.Met1Arg)Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
βββ2025β Residue 1
NM_016356.5(DCDC2):c.558G>C (p.Arg186Ser)Likely pathogenic
DCDC2-related disorder|Nephronophthisis 19
β
βββ2024β Residue 186
NM_016356.5(DCDC2):c.557+1G>TPathogenic
DCDC2-related disorder
β
βββ2024
NM_016356.5(DCDC2):c.38dup (p.Pro14fs)Likely pathogenic
Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
βββ2024β Residue 14
NM_016356.5(DCDC2):c.604G>T (p.Glu202Ter)Likely pathogenic
Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
βββ2024β Residue 202
NM_016356.5(DCDC2):c.901C>T (p.Gln301Ter)Likely pathogenic
Nephronophthisis 19
β
βββ2024β Residue 301
NM_016356.5(DCDC2):c.76G>C (p.Asp26His)Likely pathogenic
Isolated neonatal sclerosing cholangitis
β
βββ2024β Residue 26
NM_016356.5(DCDC2):c.289_292del (p.Leu97fs)Likely pathogenic
Nephronophthisis 19;Autosomal recessive nonsyndromic hearing loss 66;Isolated neonatal sclerosing cholangitis
β
βββ2024β Residue 97
NM_016356.5(DCDC2):c.1045G>T (p.Glu349Ter)Likely pathogenic
Isolated neonatal sclerosing cholangitis
β
βββ2024β Residue 349
NM_016356.5(DCDC2):c.1155del (p.Glu386fs)Likely pathogenic
DCDC2-related disorder
β
βββ2023β Residue 386