| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ABHD11, ABHD11-AS1 +130 more | Deletion | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +130 more | Copy number gain | 7q11.23 microduplication syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ABHD11, ABHD11-AS1 +35 more | Copy number gain | not specified | |
| | ABHD11, ABHD11-AS1 +43 more | Copy number gain | not specified | |
| | CLDN3, ABHD11-AS1 +10 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number gain | 7q11.23 microduplication syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number gain | 7q11.23 microduplication syndrome | |
| | ABHD11, ABHD11-AS1 +129 more | Deletion | Williams syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +132 more | Deletion | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +131 more | Copy number loss | Williams syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | not provided | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | not provided | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | not provided | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | not provided | |
| | ABHD11-AS1, BAZ1B +25 more | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number gain | 7q11.23 microduplication syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +21 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +29 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +27 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | CACNA2D1, CADPS2 +896 more | Complex | Ring chromosome 7 | |
| | ABHD11, ABHD11-AS1 +22 more | Copy number gain | 7q11.23 microduplication syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number gain | Distal 7q11.23 microdeletion syndrome | |
| | | Deletion | Supravalvar aortic stenosis | |
| | ABHD11, ABHD11-AS1 +20 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | not provided | |
| | ABHD11, ABHD11-AS1 +30 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | ABHD11, ABHD11-AS1 +24 more | Copy number gain | See cases | |
| | | Deletion | Williams syndrome | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ABHD11, ABHD11-AS1 +2 more | Copy number gain | not provided | |
| | ABHD11, ABHD11-AS1 +24 more | Deletion | Neurodevelopmental disorder | |
| | ABHD11, ABHD11-AS1 +25 more | Deletion | Neurodevelopmental disorder | |
| | ABHD11, ABHD11-AS1 +25 more | Duplication | Neurodevelopmental disorder | |
| | ABHD11, ABHD11-AS1 +25 more | Deletion | not provided | |
| | ABHD11, ABHD11-AS1 +23 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +44 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +25 more | Copy number loss | Williams syndrome | |
| | ABHD11, ABHD11-AS1 +24 more | Copy number loss | Williams syndrome | |
| | | Copy number gain | not provided | |
| | ABHD11-AS1, GTF2IRD1 +29 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ABHD11, ABHD11-AS1 +27 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | METTL27, ABHD11-AS1 +24 more | Copy number gain | not provided | |
| | | Duplication | Intestinal malrotation | |
| | ABHD11, ABHD11-AS1 +128 more | Duplication | Autism | |
| | ABHD11, ABHD11-AS1 +128 more | Duplication | Schizophrenia | |
| | | Copy number loss | Decreased body weight +14 more | |