| | IL17RA, LINC01640 +2088 more | Copy number gain | See cases | |
| | LOC130067403, LOC130067404 +2088 more | Copy number gain | See cases | |
| | LOC130067651, LOC130067652 +1004 more | Copy number gain | See cases | |
| | LOC130067596, LOC130067597 +687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130067562, LOC130067566 +78 more | Deletion | Immunodeficiency, common variable, 4 | |
| | LOC130067597, LOC130067598 +91 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Deletion (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Deletion (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (stop lost) | NAGA-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Insertion (frameshift variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (nonsense) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Microsatellite (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (nonsense) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (nonsense) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NAGA-related disorder | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 2 | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Microsatellite (frameshift variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |
| | | Single nucleotide variant (intron variant) | Alpha-N-acetylgalactosaminidase deficiency type 1 | |