| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129997707, LOC129997708 +548 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | C6orf118, C6orf120 +321 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | DLL1, LOC126859913 (V718I) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DLL1, LOC126859913 (C717Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DLL1, LOC126859913 (E716D) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | DLL1, LOC126859913 (D715N) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (E712*) | Single nucleotide variant (nonsense) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DLL1, LOC126859913 (S711P) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | DLL1, LOC126859913 (V709F) | Single nucleotide variant (missense variant) | DLL1-related disorder | |
| | DLL1, LOC126859913 (V709I) | Single nucleotide variant (missense variant) | DLL1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DLL1, LOC126859913 (S706L) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (S706P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126859913, DLL1 (S694L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | DLL1-related disorder +1 more | |
| | DLL1, LOC126859913 (P692L) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +1 more | GConflicting classifications of pathogenicity |
| | DLL1, LOC126859913 (P692A) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (R689fs) | Microsatellite (frameshift variant) | not provided | |
| | DLL1, LOC126859913 (G684A) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | DLL1, LOC126859913 (R682T) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (R682fs) | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | DLL1, LOC126859913 (R682G) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (T680K) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DLL1, LOC126859913 (P678L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | DLL1, LOC126859913 (G676R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DLL1, LOC126859913 (K675R) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (E674D) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DLL1, LOC126859913 (E673fs) | Deletion (frameshift variant) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures +1 more | GPathogenic/Likely pathogenic |
| | DLL1, LOC126859913 (S670P) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (G669A) | Single nucleotide variant (missense variant) | DLL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | DLL1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DLL1, LOC126859913 (P667H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | DLL1, LOC126859913 (Q666H) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | DLL1, LOC126859913 (T663I) | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | LOC126859913, DLL1 (D662G) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (R661S) | Single nucleotide variant (missense variant) | not provided | |
| | DLL1, LOC126859913 (R661C) | Single nucleotide variant (missense variant) | DLL1-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |