| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Early infantile epileptic encephalopathy with suppression bursts | |
| | | Duplication | Dystonic disorder | |
| | ENDOG, KYAT1-SPOUT1 +1 more (R262H) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (P253S) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (Q216H) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (L171F) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | ENDOG, LOC130002724 (G17V) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (V193I) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (L179P) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (R184C) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | |
| | | Duplication | Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (E243G) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (R285Q) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (S274L) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | ENDOG, KYAT1-SPOUT1 +1 more (R262C) | Single nucleotide variant (3 prime UTR variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | ANKRD18A, ANKRD18B +768 more | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | ENDOG, KYAT1-SPOUT1 +1 more (T246I) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | SPOUT1, ENDOG +1 more (R245L) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | ENDOG, KYAT1-SPOUT1 +1 more | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Seizure +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ENDOG, KYAT1-SPOUT1 +1 more (K297fs) | Deletion (frameshift variant +2 more) | not specified | |
| | LOC124210612, LOC124210613 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839542, LOC113839543 +3786 more | Copy number gain | See cases | |
| | LOC121331326, LOC121331327 +3785 more | Copy number gain | See cases | |
| | LOC126860737, LOC126860738 +3786 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002189, LOC130002190 +3786 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110121197, LOC110121234 +3786 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130003132, LOC130003133 +1210 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121331342, LOC121331343 +3786 more | Copy number gain | See cases | |