| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC130065739 (S10R) | 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) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (P490R +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (A469S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC130065739 (Q45R) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ACSS2, LOC126863018 (R414H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC130065739 (V41I) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (missense variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ACSS2-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (E412K +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (D326V +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (P388H +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (G392S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC130065739 (R27P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ACSS2, LOC126863018 (N502S +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC130065739 (R52P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (A386T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC130065739 (W29S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | ACSS2, LOC126863018 (A512T +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (T421A +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ACSS2, LOC126863018 (R429Q +2 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | ACSS2, LOC130065739 (P42T) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | ACSS2, LOC126863018 (V496A +2 more) | Single nucleotide variant (missense variant) | Nonsyndromic cleft lip palate | |
| | MAP1LC3A, MIR499A +25 more | Deletion | Long QT syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |