| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | ZNF747, ZNF747-DT +378 more | Copy number gain | See cases | |
| | LOC130058889, LOC130058890 +207 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Glycogen phosphorylase kinase deficiency +1 more | |
| | CFAP119, LOC126862330 +1 more (H152Y) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CFAP119, LOC126862330 +1 more (A143V) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CFAP119, LOC126862330 +1 more (A127T) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CFAP119, LOC126862330 +1 more (F124L) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CFAP119, LOC126862330 +1 more (A118T) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CFAP119, LOC126862330 +1 more (E100Q) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | CFAP119, LOC126862330 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | CFAP119, LOC126862330 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen phosphorylase kinase deficiency | |
| | | 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 | |
| | | Deletion | Dilated Cardiomyopathy, Dominant | |
| | | Duplication | not specified | |
| | | Duplication | Generalized epilepsy with febrile seizures plus, type 9 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Deletion | Branched-chain keto acid dehydrogenase kinase deficiency | |
| | | Copy number loss | See cases | |
| | | 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 loss | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |