| | ATP8A2, ATXN8OS +2048 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861801, LOC126861802 +2047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861839, LOC126861840 +2045 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC124849292, LOC124849293 +2028 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130009743, LOC130009744 +2024 more | Copy number gain | See cases | |
| | LOC130009548, LOC130009549 +2024 more | Copy number gain | See cases | |
| | LOC130010180, LOC130010181 +1557 more | Copy number gain | See cases | |
| | LINC00392, LINC00393 +1404 more | Copy number loss | See cases | |
| | LOC130009962, LOC130009963 +1288 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | MCF2L-AS1, METTL21C +706 more | Copy number gain | See cases | |
| | LOC130009994, LOC130009995 +705 more | Copy number gain | See cases | |
| | LOC130010070, LOC130010071 +663 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010106, LOC130010107 +638 more | Copy number gain | See cases | |
| | FGF14-IT1, FKSG29 +369 more | Copy number gain | See cases | |
| | LOC110008580, LOC110120930 +544 more | Copy number gain | See cases | |
| | | Copy number loss | Holoprosencephaly 5 | |
| | | Copy number gain | See cases | |
| | LOC132090158, LOC132090159 +395 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010172, LOC130010173 +367 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | GAS6-AS1, GAS6-DT +363 more | 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 | |
| | LINC02337, LINC03032 +332 more | Copy number loss | See cases | |
| | LINC03082, LOC100506016 +325 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130010152, LOC130010153 +312 more | Copy number loss | Chromosome 13q33-q34 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ADPRHL1, ANKRD10 +271 more | Copy number loss | See cases | |
| | ADPRHL1, ANKRD10 +261 more | Deletion | Factor X deficiency +1 more | |
| | ANKRD10, ANKRD10-IT1 +73 more | Copy number gain | See cases | |
| | LOC130010118, LOC130010119 +4 more | Deletion | NAD(P)HX dehydratase deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +3 more) | not provided +1 more | |
| | NAXD, NAXD-AS1 (R15fs +1 more) | Deletion (5 prime UTR variant +2 more) | NAD(P)HX dehydratase deficiency | |
| | NAXD, NAXD-AS1 (V16I +1 more) | Single nucleotide variant (5 prime UTR variant +2 more) | NAD(P)HX dehydratase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | NAXD-related condition +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | NAXD-related condition +1 more | |
| | | Single nucleotide variant (intron variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130010118, NAXD +1 more | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC130010118, NAXD +1 more (A33T) | Single nucleotide variant (intron variant +1 more) | not provided | |
| | LOC130010118, NAXD +1 more (A33V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | LOC130010118, NAXD +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LOC130010118, NAXD +1 more | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant +2 more) | NAXD-related condition +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | NAXD-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Deletion (frameshift variant +2 more) | NAD(P)HX dehydratase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | NAD(P)HX dehydratase deficiency +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | NAXD-related condition +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | NAD(P)HX dehydratase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | NAD(P)HX dehydratase deficiency | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | NAXD-related condition | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | NAD(P)HX dehydratase deficiency | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |