| | | Copy number loss | See cases | |
| | LOC130005585, LOC130005586 +258 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | KBTBD4, PTPMT1 (S462C +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | KBTBD4, PTPMT1 (V465L +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | KBTBD4, PTPMT1 (Y438S +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | PTPMT1, KBTBD4 (E409D +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | KBTBD4, PTPMT1 (G394R +5 more) | Single nucleotide variant (non-coding transcript variant +1 more) | 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) | 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 (synonymous variant) | not provided | |
| | | 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 (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion | Leukocyte adhesion deficiency type II | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Duplication | Leukocyte adhesion deficiency type II | |
| | | Deletion | Intellectual disability | |
| | CHORDC1, CHRDL2 +1293 more | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1292 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |