| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | JAKMIP2, JAKMIP2-AS1 (E754V +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | JAKMIP2, JAKMIP2-AS1 (K86N +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | JAKMIP2, JAKMIP2-AS1 (T134A +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | JAKMIP2-AS1, JAKMIP2 (D265E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | JAKMIP2-AS1, JAKMIP2 (N288S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | JAKMIP2, JAKMIP2-AS1 (T499M +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | JAKMIP2, JAKMIP2-AS1 (L281F +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | JAKMIP2-AS1, JAKMIP2 (R527Q +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | JAKMIP2, JAKMIP2-AS1 (A13V +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | JAKMIP2, JAKMIP2-AS1 (R122H +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | LOC129994934, LOC129994935 +313 more | Copy number gain | See cases | |
| | LOC129995052, LOC129995053 +1157 more | Copy number gain | See cases | |
| | C5orf46, CTB-99A3.1 +82 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |