| | | Deletion | Tumoral calcinosis, hyperphosphatemic, familial, 1 | |
| | | Copy number gain | See cases | |
| | CLEC12A, CLEC12A-AS1 +1258 more | Copy number gain | See cases | |
| | LOC126861410, LOC126861411 +1258 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007230, LOC130007231 +1257 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861494, LOC126861495 +1257 more | Copy number gain | See cases | |
| | CACNA1C-AS2, CACNA1C-AS4 +1242 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007190, LOC130007191 +698 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126861440, NECAP1 (T3S) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (E4K) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (E4G) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (S9C) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (K14*) | Microsatellite (nonsense +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (V13fs) | Microsatellite (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (V19A) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (P23L) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 +1 more | |
| | NECAP1, LOC126861440 (A26V) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (N28I) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC126861440, NECAP1 (G30R) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | LOC126861440, NECAP1 (G30S) | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (nonsense +1 more) | Developmental and epileptic encephalopathy, 21 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Deletion (frameshift variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (splice donor variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Developmental and epileptic encephalopathy, 21 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Developmental and epileptic encephalopathy, 21 | |