| - GRCh37:
- Chr22:29099499
- GRCh38:
- Chr22:28703511
| CHEK2 | L301fs, L344fs, L80fs, L234fs | Familial cancer of breast, Colorectal cancer, Hereditary cancer-predisposing syndrome,
not provided | Conflicting interpretations of pathogenicity
(Aug 17, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29121230
- GRCh38:
- Chr22:28725242
| CHEK2 | | Melanoma, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 2,
not provided, Breast cancer, susceptibility to, CHEK2-Related Cancer Susceptibility,
Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma,
Malignant tumor of prostate, Colorectal cancerBreast and colorectal cancer, susceptibility to,
Familial cancer of breast, ...see more | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:46805705
- GRCh38:
- Chr17:48728343
| HOXB13 | G84E | HOXB13-related disorders, HOXB13-Related Cancer Predisposition, Prostate cancer, hereditary, 9,
Hereditary cancer-predisposing syndrome, Familial prostate carcinoma, not provided,
Prostate cancer susceptibility | Conflicting interpretations of pathogenicity; association
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:112915523
- GRCh38:
- Chr12:112477719
| PTPN11 | N308D, N307D | Noonan syndrome | Pathogenic
(Apr 3, 2017) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr8:90990521
- GRCh38:
- Chr8:89978293
| NBN | I171V, I89V | Hereditary cancer-predisposing syndrome, not provided, not specified,
Acute lymphoid leukemia, Hereditary breast ovarian cancer syndrome, Microcephaly, normal intelligence and immunodeficiency,
Breast carcinoma | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29121087
- GRCh38:
- Chr22:28725099
| CHEK2 | I157T, I200T | CHEK2-related condition, Adrenal cortex carcinoma, Gastrointestinal carcinoma,
CHEK2-Related Cancer Susceptibility, Predisposition to cancer, Breast and/or ovarian cancer,
Bone osteosarcoma, Li-Fraumeni syndrome 2, Malignant tumor of prostate,
Familial cancer of breast, Hereditary cancer-predisposing syndromenot specified,
not provided, Breast and colorectal cancer, susceptibility to, Familial cancer of breast,
Bone osteosarcoma, Colorectal cancer, Li-Fraumeni syndrome 2,
Malignant tumor of prostate, Familial cancer of breast, ...see more | Conflicting interpretations of pathogenicity; risk factor
(Sep 1, 2023) | criteria provided, conflicting interpretations |