| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (splice acceptor variant) | Nephronophthisis 19 | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 19 | |
| | | Single nucleotide variant (nonsense) | Nephronophthisis 19 | |
| | | Single nucleotide variant (synonymous variant) | DCDC2-related disorder | |
| | | Single nucleotide variant (missense variant) | DCDC2-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DCDC2-related disorder | |
| | | Single nucleotide variant (intron variant) | DCDC2-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DCDC2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant) | DCDC2-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DCDC2-related disorder | |
| | | Single nucleotide variant (intron variant) | DCDC2-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | DCDC2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | DCDC2-related disorder | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Isolated neonatal sclerosing cholangitis | |
| | | Single nucleotide variant (intron variant) | DCDC2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | DCDC2-related disorder +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | DCDC2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | DCDC2-related disorder | |
| | | Deletion (frameshift variant) | DCDC2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Duplication | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Deletion (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated neonatal sclerosing cholangitis +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Inversion (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (nonsense) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (synonymous variant) | DCDC2-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated neonatal sclerosing cholangitis +2 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Nephronophthisis 19 | |
| | | Deletion (frameshift variant) | Isolated neonatal sclerosing cholangitis | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |