| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | C2orf69-related condition | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | C2orf69, LOC129935377 (L6P) | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number gain | See cases | |
| | | Duplication (frameshift variant) | Combined oxidative phosphorylation deficiency 53 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2orf69, LOC129935377 (W2L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | C2orf69, LOC129935377 (S28C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (nonsense) | Combined oxidative phosphorylation deficiency 53 | |
| | | Deletion (frameshift variant) | Combined oxidative phosphorylation deficiency 53 | |
| | | Deletion (inframe_indel) | Combined oxidative phosphorylation deficiency 53 | |
| | | Microsatellite (frameshift variant) | Combined oxidative phosphorylation deficiency 53 | |
| | | Deletion (frameshift variant) | Combined oxidative phosphorylation deficiency 53 | |
| | | Deletion (frameshift variant) | Combined oxidative phosphorylation deficiency 53 | |
| | | Copy number loss | Chromosome 2q32-q33 deletion syndrome | |
| | | Copy number gain | See cases | |
| | | Deletion (frameshift variant) | Combined oxidative phosphorylation deficiency 53 +1 more | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Premature ovarian failure | |
| | | Copy number gain | See cases | |
| | FAM117B, FAM237A +509 more | Copy number loss | See cases | |
| | LOC129935413, LOC129935414 +1097 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935268, LOC129935269 +329 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | LOC126806461, LOC126806467 +1299 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |