| | AASDHPPT, ABCG4
+1199 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | Ataxia-telangiectasia syndrome +3 more | |
| | | Microsatellite (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Familial cancer of breast +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +3 more | |
| | | Microsatellite (inframe_indel +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial cancer of breast +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Deletion (intron variant) | Ataxia-telangiectasia syndrome +3 more | |
| | | Duplication (frameshift variant +2 more) | Familial cancer of breast +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial cancer of breast +2 more | |
| | | Indel (frameshift variant +1 more) | Ataxia-telangiectasia syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | 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 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Breast carcinoma +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Ataxia-telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary breast ovarian cancer syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +3 more | |
| | | Duplication (frameshift variant +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial cancer of breast +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +4 more | |
| | | Deletion (frameshift variant +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Familial cancer of breast +3 more | |
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Ataxia-telangiectasia syndrome +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +4 more | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +2 more | |
| | | Duplication (frameshift variant +1 more) | Ataxia-telangiectasia syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial cancer of breast +4 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial cancer of breast +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +7 more | GConflicting classifications of pathogenicity |
| | | Indel (nonsense +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +4 more | |
| | | Single nucleotide variant (intron variant) | Ataxia-telangiectasia syndrome +2 more | |
| | | Microsatellite (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 +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Familial cancer of breast +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (intron variant +1 more) | Ataxia-telangiectasia syndrome +2 more | |
| | | Indel (frameshift variant +1 more) | Familial cancer of breast +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial cancer of breast +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Ataxia-telangiectasia syndrome +4 more | |
| | | Deletion (frameshift variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial cancer of breast +3 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ATM-related disorder +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ataxia-telangiectasia syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |