| | | Copy number gain | See cases | |
| | LOC129995913, LOC129995914 +1340 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | DCDC2-related condition | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis 19 +3 more | |
| | | Single nucleotide variant (synonymous variant) | DCDC2-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | DCDC2-related condition | |
| | | Single nucleotide variant (intron variant) | DCDC2-related condition | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | |
| | | Single nucleotide variant (synonymous variant) | DCDC2-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Nonsyndromic Deafness +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (synonymous 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) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DCDC2-related condition | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +3 more | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Deletion (frameshift variant) | DCDC2-related condition | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Isolated neonatal sclerosing cholangitis +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Isolated neonatal sclerosing cholangitis +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Deletion (splice acceptor variant +1 more) | Isolated neonatal sclerosing cholangitis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +3 more | |
| | | Single nucleotide variant (missense variant) | DCDC2-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 66 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Isolated neonatal sclerosing cholangitis +4 more | GPathogenic/Likely pathogenic |
| | | 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) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 66 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Isolated neonatal sclerosing cholangitis +4 more | GPathogenic/Likely pathogenic |