| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807210, LOC126807211 +1102 more | Copy number gain | See cases | |
| | LOC126807213, LOC126807214 +1068 more | Copy number gain | See cases | |
| | LOC132089068, LOC132089069 +1051 more | Copy number gain | See cases | |
| | LOC126807202, LOC126807203 +1026 more | Copy number gain | See cases | |
| | LOC129993194, LOC129993195 +903 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993418, LOC129993419 +535 more | Copy number gain | See cases | |
| | LOC126807277, LOC126807278 +509 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC441052, LRP2BP +455 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993473, LOC129993474 +386 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993510, LOC129993511 +383 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | GALNTL6-AS1, GLRA3 +85 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Microsatellite (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Duplication (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Deletion (frameshift variant +1 more) | Aspartylglucosaminuria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (nonsense +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice acceptor variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice acceptor variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice donor variant) | Aspartylglucosaminuria | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Aspartylglucosaminuria | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |