| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 | |
| | | Duplication | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Duplication | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Deletion | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Deletion | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Deletion (frameshift variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Deletion (frameshift variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Microsatellite (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Duplication (splice donor variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Deletion (intron variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Deletion (intron variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 1 +1 more | |