| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007012, LOC130007013 +769 more | Copy number gain | See cases | |
| | LOC126861364, LOC126861365 +764 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | MPZL2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MPZL2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | MPZL2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | 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) | MPZL2-related disorder | |
| | | Deletion (frameshift variant) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | MPZL2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | MPZL2-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (nonsense) | MPZL2-related disorder | |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | MPZL2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant (missense variant) | MPZL2-related disorder +1 more | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Hearing loss, autosomal recessive 111 | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | MPZL2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal recessive 111 | |
| | | Single nucleotide variant | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Inflammatory bowel disease 28 +5 more | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Immunodeficiency 18 +4 more | |
| | | Deletion | Intellectual disability | |
| | | Duplication | Distal trisomy 11q | |
| | | Deletion | Inflammatory bowel disease 28 +3 more | |
| | | Deletion | Neurodevelopmental delay +7 more | |
| | | Copy number gain | not provided | |
| | | Deletion | Long QT syndrome 10 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |