| | LONP2, SIAH1 (M1I +1 more) | Single nucleotide variant (missense variant +2 more) | not provided | |
| | LONP2, SIAH1 (A37fs +1 more) | Insertion (frameshift variant +1 more) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (P110L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LONP2, SIAH1 (Y47fs +1 more) | Deletion (frameshift variant +1 more) | SIAH1-related condition | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | LONP2, SIAH1 (F185C +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LONP2, SIAH1 (C121fs +1 more) | Duplication (frameshift variant +1 more) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (L69V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LONP2, SIAH1 (G12D +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (D177H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LONP2, SIAH1 (M190T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LONP2, SIAH1 (P109L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LONP2, SIAH1 (A24fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | LONP2, SIAH1 (R21S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (G174S +1 more) | Single nucleotide variant (missense variant +1 more) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (P17A +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | LONP2, SIAH1 (R233Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LONP2, SIAH1 (R107W +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LONP2, SIAH1 (H152R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LONP2, SIAH1 (D162N +1 more) | Single nucleotide variant (missense variant +1 more) | Buratti-Harel syndrome | |
| | | Copy number gain | not provided | |
| | SIAH1, LONP2 (A39V +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | CFAP20, LOC101927556 +520 more | Duplication | not provided | |
| | LONP2, SIAH1 (P50L +1 more) | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder | |
| | LONP2, SIAH1 (G174R +1 more) | Single nucleotide variant (missense variant +1 more) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (C41G +1 more) | Single nucleotide variant (missense variant +1 more) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (C128F +1 more) | Single nucleotide variant (missense variant +1 more) | Buratti-Harel syndrome | |
| | LONP2, SIAH1 (T168A +1 more) | Single nucleotide variant (missense variant +1 more) | Buratti-Harel syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | KCTD19, KIAA0513 +368 more | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058939, LOC130058940 +210 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | C16orf78, HNRNPA1L3 +205 more | Copy number loss | See cases | |