| | LINC01892, LINC01895 +379 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LINC00668, LINC01254 +379 more | Copy number gain | See cases | |
| | LOC105372173, LOC105372179 +1646 more | Copy number gain | See cases | |
| | LOC130062116, LOC130062117 +162 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862690, LOC126862691 +195 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC105372069, LOC105372071 +1643 more | Copy number gain | See cases | |
| | LINC00470, LINC00526 +367 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC125368546, LOC125368547 +368 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062172, LOC130062173 +368 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121852961, LOC121852962 +1643 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062369, LOC130062370 +1643 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062321, LOC130062322 +1643 more | Copy number gain | See cases | |
| | LOC130062167, LOC130062168 +245 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130062212, LOC130062213 +344 more | Copy number loss | See cases | |
| | LOC130062687, LOC130062688 +1642 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130062768, LOC130062769 +1642 more | Copy number gain | See cases | |
| | | Copy number loss | Deletion of short arm of chromosome 18 | |
| | | Copy number loss | See cases | |
| | LOC112543419, LOC112543420 +246 more | Copy number loss | See cases | |
| | LOC130062147, LOC130062148 +339 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ARHGAP28, ARHGAP28-AS1 +14 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ANKRD12, ARHGAP28 +47 more | Copy number gain | See cases | |
| | LAMA1, LOC101927188 +10 more | Copy number gain | See cases | Gconflicting data from submitters |
| | LOC112543434, LOC112577592 +5 more | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LAMA1, LOC126862685 (R2592W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAMA1, LOC126862685 (L2588F) | Single nucleotide variant (missense variant) | not provided | |
| | LAMA1, LOC126862685 (L2588S) | Single nucleotide variant (missense variant) | not provided | |
| | LAMA1, LOC126862685 (A2583G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAMA1, LOC126862685 (A2583V) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LAMA1, LOC126862685 (S2579N) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAMA1, LOC126862685 (T2575M) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAMA1, LOC126862685 (A2569V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAMA1, LOC126862685 (G2563A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LAMA1, LOC126862685 (P2560S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LAMA1, LOC126862685 (H2557P) | Single nucleotide variant (missense variant) | LAMA1-related condition +1 more | |
| | LOC126862685, LAMA1 (N2553K) | Single nucleotide variant (missense variant) | not provided | |
| | LAMA1, LOC126862685 (V2547I) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | LAMA1, LOC126862685 (P2543fs) | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |