| | LOC130006596, LOC130006597 +387 more | Copy number loss | See cases | |
| | AASDHPPT, ABCG4 +1199 more | Copy number gain | See cases | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (genic upstream transcript variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | Ataxia-telangiectasia syndrome | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | not specified +2 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | not specified | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | not specified +1 more | |
| | | Single nucleotide variant | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Indel (5 prime UTR variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Duplication (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Insertion (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | 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) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite | not specified | |
| | | Deletion (splice acceptor variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Familial cancer of breast +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | ATM-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Duplication | Ataxia-telangiectasia syndrome | |
| | | Duplication | Ataxia-telangiectasia syndrome | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | LOC129390353, LOC129390354 +4 more | Deletion | Ataxia-telangiectasia syndrome | |
| | | Deletion | Ataxia-telangiectasia syndrome | |
| | | Duplication | Ataxia-telangiectasia syndrome | |
| | | Duplication | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Duplication | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast | |
| | | Duplication (frameshift variant) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia syndrome +1 more | |
| | | Deletion (frameshift variant) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Familial cancer of breast +1 more | |
| | | Single nucleotide variant (synonymous variant) | Familial cancer of breast +2 more | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Ataxia-telangiectasia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Duplication (nonsense) | Hereditary cancer-predisposing syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Familial cancer of breast | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome | |