| | | Single nucleotide variant (splice acceptor variant) | Nephronophthisis 19 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 19 | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 19 | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis 19 | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | |
| | | Duplication (intron variant) | Isolated neonatal sclerosing cholangitis +2 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +2 more | |
| | | Microsatellite (inframe_deletion) | Autosomal recessive nonsyndromic hearing loss 66 +4 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 19 +2 more | |
| | | Single nucleotide variant (missense variant) | DCDC2-related disorder +3 more | |
| | | Deletion (frameshift variant) | Nephronophthisis 19 | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +3 more | |
| | | Duplication (frameshift variant) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Duplication (frameshift variant) | DCDC2-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 19 +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Deletion (frameshift variant) | Isolated neonatal sclerosing cholangitis +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 19 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated neonatal sclerosing cholangitis +4 more | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Nephronophthisis 19 +3 more | |
| | | Microsatellite (frameshift variant) | Isolated neonatal sclerosing cholangitis +3 more | |
| | | Single nucleotide variant (nonsense) | Isolated neonatal sclerosing cholangitis +1 more | |