| | ANKEF1, SNAP25-AS1 (R186C) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, SNAP25-AS1 (I180V) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, SNAP25-AS1 (I152L) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, SNAP25-AS1 (Y523F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (S517A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (K471R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (M439V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (H378R +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (M420K +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (R197Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (R160G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | SLC24A3, SLC4A11 +164 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ANKEF1, SNAP25-AS1 (T169S) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, LOC126862970 +1 more (R126S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (H284Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (T524A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (T542A +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | Renal agenesis | |
| | ANKEF1, LOC126862970 +1 more (A326S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (E490D +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, SNAP25-AS1 (Y240F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (H34Y +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (V171M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (A188D) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, SNAP25-AS1 (R186H) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, LOC126862970 +1 more (R467Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (K126E) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, LOC126862970 +1 more (G199E +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (A135V) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, LOC126862970 +1 more (E457G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, LOC126862970 +1 more (I496N +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (L234S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (R467W +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (P475L +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (A132S) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, LOC126862970 +1 more (S355G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (K208I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (R119G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (S626G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (I233T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (P339Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (D605V +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (P134S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (M439T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, SNAP25-AS1 (A103T) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, LOC126862970 +1 more (R147C +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, LOC126862970 +1 more (L340F +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (P539T +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | ANKEF1, SNAP25-AS1 (T560I +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (R723Q +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | ANKEF1, SNAP25-AS1 (D215H +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | 20p12.3 microdeletion syndrome | |
| | | Copy number gain | not specified | |
| | | Duplication | Alagille syndrome due to a JAG1 point mutation | |
| | ANKEF1, SNAP25-AS1 (S493* +1 more) | Single nucleotide variant (nonsense) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MIR6869, MIR6870 +828 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065426, LOC130065427 +87 more | Copy number gain | See cases | |
| | LOC130065566, LOC130065567 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC111365169, LOC111365189 +833 more | Copy number gain | See cases | |
| | LOC130065574, LOC130065575 +950 more | Copy number gain | See cases | |
| | LOC130065416, LOC130065417 +579 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126862999, LOC126863005 +814 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |