| | | Copy number gain | See cases | |
| | LOC130059883, LOC130059884 +922 more | Copy number gain | See cases | |
| | | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | LOC130060207, LOC130060208 +141 more | Deletion | Li-Fraumeni syndrome | |
| | LOC130060232, LOC130060233 +141 more | Deletion | Li-Fraumeni syndrome +2 more | |
| | ALOX12B, ALOX15B +110 more | Copy number gain | See cases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | VAMP2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | VAMP2-related disorder | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | | Microsatellite (splice acceptor variant) | Severe neurodevelopmental delay | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | LOC130060218, VAMP2 (S28G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130060218, VAMP2 (L26V +1 more) | Single nucleotide variant (missense variant) | VAMP2-related disorder | |
| | LOC130060218, VAMP2 (P22L +1 more) | Single nucleotide variant (missense variant) | VAMP2-related disorder | |
| | LOC130060218, VAMP2 (A21fs +1 more) | Deletion (frameshift variant) | Neurodevelopmental disorder | |
| | LOC130060218, VAMP2 (P13L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130060218, VAMP2 (P13S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130060218, VAMP2 (P10L +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130060218, VAMP2 (P10A +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130060218, VAMP2 (A5T +1 more) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements | |
| | LOC130060218, VAMP2 (A3V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | TMEM88, TRG-GCC2-6 +31 more | Duplication | not provided | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Deletion | Very long chain acyl-CoA dehydrogenase deficiency | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Duplication | Common variable immunodeficiency +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALOX12, ALOX12B +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Single nucleotide variant (missense variant) | not provided | |