| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +953 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +952 more | Copy number gain | See cases | |
| | ADAMTS12, ADAMTS16 +530 more | Copy number gain | See cases | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | LINC02057, LINC02101 +518 more | Copy number gain | See cases | |
| | LOC126807367, LOC126807368 +254 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Deletion (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Insertion (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (nonsense) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Microsatellite (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more | |
| | | 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) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | NADK2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | NADK2-related disorder | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Deletion (frameshift variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Duplication (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (nonsense) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |