| | LOC130005622, LOC130005623 +224 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130005585, LOC130005586 +258 more | Copy number loss | See cases | |
| | LOC130005592, LOC130005593 +111 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (intron variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (intron variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Duplication (5 prime UTR variant +1 more) | Congenital disorder of glycosylation | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant +1 more) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II +1 more | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II +1 more | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (synonymous variant) | Leukocyte adhesion deficiency type II | |
| | | Single nucleotide variant (missense variant) | Leukocyte adhesion deficiency type II | |