| | LOC129998085, LOC129998086 +904 more | Copy number gain | See cases | |
| | LOC123956263, LOC123956264 +4737 more | Copy number loss | See cases | |
| | LOC129998210, LOC129998211 +1148 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC111365192, LOC111413014 +281 more | Copy number loss | See cases | |
| | ABCB5, ADCYAP1R1 +387 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Bilateral microtia-deafness-cleft palate syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Deletion (inframe_deletion) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (synonymous variant) | HOXA1-related disorder +4 more | |
| | | Single nucleotide variant | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Human HOXA1 syndromes +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (synonymous variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (synonymous variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Microtia with or without hearing impairment | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Microsatellite (frameshift variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | MICROTIA WITHOUT HEARING IMPAIRMENT | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (synonymous variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe deletion) | not provided | |
| | | Microsatellite (inframe_deletion) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (synonymous variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | HOXA2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (synonymous variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Single nucleotide variant | Bilateral microtia-deafness-cleft palate syndrome | |
| | | Microsatellite | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |