| | | Copy number loss | See cases | |
| | LOC129994580, LOC129994581 +336 more | Copy number loss | See cases | |
| | ACSL6, ACSL6-AS1 +200 more | Copy number loss | See cases | |
| | LOC129995052, LOC129995053 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129994691, LOC129994692 +263 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | IRF1, LOC126807508 (V175A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | IRF1, LOC126807508 (P145L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | IRF1-related condition | |
| | IRF1, LOC126807508 (R129*) | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 117 | |
| | IRF1, LOC126807508 (Q119H) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 117 | |
| | | Single nucleotide variant (missense variant +1 more) | Non-small cell lung carcinoma | |
| | | Single nucleotide variant (missense variant +1 more) | Gastric cancer | |
| | | Copy number loss | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | |
| | | Copy number gain | not specified | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Blepharophimosis +5 more | |
| | | Deletion | Hereditary cancer-predisposing syndrome +1 more | |
| | | 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 | |