| | LOC132088675, LOC132088682 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ADAMTS4, ALDH9A1 +371 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129931815, LOC129931816 +151 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Autosomal-Recessive Hereditary Hearing Impairment +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 7 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | LMX1A-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | LMX1A-related condition | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | LMX1A-related condition | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (inframe insertion) | LMX1A-related condition | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | LMX1A-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant) | LMX1A-related condition | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | LMX1A-related condition | |
| | | Single nucleotide variant (nonsense) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (inframe deletion) | LMX1A-related condition | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant nonsyndromic hearing loss 7 +1 more | |
| | | Single nucleotide variant (synonymous variant) | LMX1A-related condition | |
| | | Deletion (frameshift variant) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 7 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Schizophrenia | |
| | | Single nucleotide variant (missense variant) | LMX1A-related condition | |
| | | Single nucleotide variant (missense variant) | LMX1A-related condition | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Duplication | Paragangliomas 3 +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |