| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | NADK2-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | NADK2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | NADK2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Duplication (frameshift 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 | |
| | LOC129993801, NADK2 (R14C) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (A21V) | Single nucleotide variant (missense variant +1 more) | 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 (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 (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Deletion (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (R24Q) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Duplication (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (R36Q) | Single nucleotide variant (missense variant +1 more) | 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 | |
| | | 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 | |
| | | Microsatellite (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 (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (A22E) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Copy number loss | not provided | |
| | AGXT2, LOC121725200 +385 more | Copy number gain | See cases | |
| | LOC129993801, NADK2 (T78S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129993801, NADK2 (C12Y) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | | Duplication | not provided | |
| | | Duplication | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | LOC129993801, NADK2 (G38V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | 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 (synonymous variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (P26R) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Duplication (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (H46Y) | Single nucleotide variant (missense variant +1 more) | 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 +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (Y80C) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (A56T) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (R34W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | 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 | |
| | | Deletion (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (V74del) | Microsatellite (inframe_deletion +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron 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 | |
| | | Single nucleotide variant (synonymous variant +1 more) | 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 (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | LOC129993801, NADK2 (R53H) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (P35S) | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (intron variant) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Single nucleotide variant (nonsense +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | LOC129993801, NADK2 (A62P) | Single nucleotide variant (missense variant +1 more) | 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 +1 more) | 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 | |
| | LOC129993801, NADK2 (D63fs) | Duplication (frameshift variant +1 more) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Progressive encephalopathy with leukodystrophy due to DECR deficiency | |
| | | Copy number gain | musculoskeletal system issues | |