| - GRCh37:
- Chr22:29108007
- GRCh38:
- Chr22:28712019
| CHEK2 | | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 2,
Colorectal cancer, Malignant tumor of prostate, Bone osteosarcoma,
Familial cancer of breast | Pathogenic/Likely pathogenic
(Jun 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577604
- GRCh38:
- Chr17:7674286
| TP53 | G187A, G94A, G67A, G226A | Li-Fraumeni syndrome, Adrenocortical carcinoma, hereditary, Familial cancer of breast,
Glioma susceptibility 1, Li-Fraumeni syndrome 1, Nasopharyngeal carcinoma,
Carcinoma of pancreas, Choroid plexus papilloma, Bone osteosarcoma,
Basal cell carcinoma, susceptibility to, 7, Hepatocellular carcinomaColorectal cancer,
Bone marrow failure syndrome 5, ...see more | Uncertain significance
(Nov 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48916822
- GRCh38:
- Chr13:48342686
| RB1 | T118S | Retinoblastoma, Bone osteosarcoma, Malignant tumor of urinary bladder,
Small cell lung carcinoma, Retinoblastoma, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29106044
- GRCh38:
- Chr22:28710056
| CHEK2 | P199T, P266T, P309T, P45T | CHEK2-related condition, Familial cancer of breast, Bone osteosarcoma,
Colorectal cancer, Li-Fraumeni syndrome 2, Malignant tumor of prostate,
Familial cancer of breast, Hereditary cancer-predisposing syndrome | Uncertain significance
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48919320
- GRCh38:
- Chr13:48345184
| RB1 | F162Y | Hereditary cancer-predisposing syndrome, Malignant tumor of urinary bladder, Small cell lung carcinoma,
Retinoblastoma, Bone osteosarcoma, Retinoblastoma
| Benign/Likely benign
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48953773
- GRCh38:
- Chr13:48379637
| RB1 | S459F | Bone osteosarcoma, Retinoblastoma, Malignant tumor of urinary bladder,
Small cell lung carcinoma, Retinoblastoma, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Jun 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29107935-29107937
- GRCh38:
- Chr22:28711947-28711949
| CHEK2 | I251del, I30del, I294del, I184del | Li-Fraumeni syndrome 2, Bone osteosarcoma, Colorectal cancer,
Familial cancer of breast, Malignant tumor of prostate, Familial cancer of breast
| Uncertain significance
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29091867
- GRCh38:
- Chr22:28695879
| CHEK2 | | Li-Fraumeni syndrome 2, Bone osteosarcoma, Colorectal cancer,
Familial cancer of breast, Malignant tumor of prostate, Familial cancer of breast
| Uncertain significance
(May 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577121
- GRCh38:
- Chr17:7673803
| TP53 | R141G, R234G, R273G, R114G | Adrenocortical carcinoma, hereditary, Familial cancer of breast, Glioma susceptibility 1,
Basal cell carcinoma, susceptibility to, 7, Bone osteosarcoma, Carcinoma of pancreas,
Choroid plexus papilloma, Bone marrow failure syndrome 5, Colorectal cancer,
Li-Fraumeni syndrome 1, Nasopharyngeal carcinomaHepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome,
...see more | Pathogenic
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29126426
- GRCh38:
- Chr22:28730438
| CHEK2 | R144W | Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Malignant tumor of prostate,
Familial cancer of breast, Bone osteosarcoma, Li-Fraumeni syndrome 2,
Colorectal cancer | Uncertain significance
(Mar 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48936984
- GRCh38:
- Chr13:48362848
| RB1 | R251Q | Hereditary cancer-predisposing syndrome, Retinoblastoma, Bone osteosarcoma,
Malignant tumor of urinary bladder, Retinoblastoma, Small cell lung carcinoma
| Conflicting interpretations of pathogenicity
(Oct 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7579699
- GRCh38:
- Chr17:7676381
| TP53 | | Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Familial cancer of breast,
Bone osteosarcoma, Adrenocortical carcinoma, hereditary, Carcinoma of pancreas,
Basal cell carcinoma, susceptibility to, 7, Li-Fraumeni syndrome 1, Nasopharyngeal carcinoma,
Carcinoma of colon, Hepatocellular carcinomaChoroid plexus papilloma,
Glioma susceptibility 1, Hereditary cancer-predisposing syndrome, ...see more | Pathogenic/Likely pathogenic
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121239
- GRCh38:
- Chr22:28725251
| CHEK2 | I146L, I189L | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Familial cancer of breast, Li-Fraumeni syndrome 2, Malignant tumor of prostate,
Bone osteosarcoma | Uncertain significance
(Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48937082
- GRCh38:
- Chr13:48362946
| RB1 | N284D | Hereditary cancer-predisposing syndrome, Retinoblastoma, Bone osteosarcoma,
Malignant tumor of urinary bladder, Small cell lung carcinoma, Retinoblastoma
| Conflicting interpretations of pathogenicity
(Jun 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:48916746
- GRCh38:
- Chr13:48342610
| RB1 | I92M | Bone osteosarcoma, Malignant tumor of urinary bladder, Small cell lung carcinoma,
Retinoblastoma, Retinoblastoma | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48916739
- GRCh38:
- Chr13:48342603
| RB1 | G90V | Retinoblastoma, Bone osteosarcoma, Malignant tumor of urinary bladder,
Small cell lung carcinoma, Retinoblastoma, Hereditary cancer-predisposing syndrome
| Conflicting interpretations of pathogenicity
(Apr 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:48947587
- GRCh38:
- Chr13:48373451
| RB1 | A392T | Hereditary cancer-predisposing syndrome, Bone osteosarcoma, Malignant tumor of urinary bladder,
Small cell lung carcinoma, Retinoblastoma, Retinoblastoma
| Uncertain significance
(Mar 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121258
- GRCh38:
- Chr22:28725270
| CHEK2 | Y139*, Y182* | Li-Fraumeni syndrome 2, Bone osteosarcoma, Familial cancer of breast,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer,
not provided, Hereditary breast ovarian cancer syndrome, Familial cancer of breast
| Pathogenic
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:2126513-2126514
- GRCh38:
- Chr16:2076512-2076513
| TSC2 | L722fs, L873fs, L922fs, L933fs, L885fs | Tuberous sclerosis 2 | Pathogenic/Likely pathogenic
(Jul 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578370
- GRCh38:
- Chr17:7675052
| TP53 | | not provided, Li-Fraumeni syndrome, Adrenocortical carcinoma, hereditary,
Nasopharyngeal carcinoma, Hepatocellular carcinoma, Familial cancer of breast,
Carcinoma of pancreas, Carcinoma of colon, Glioma susceptibility 1,
Bone osteosarcoma, Basal cell carcinoma, susceptibility to, 7Choroid plexus papilloma,
Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1,
...see more | Pathogenic/Likely pathogenic
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578541
- GRCh38:
- Chr17:7675223
| TP53 | L130P, L91P | Hereditary cancer-predisposing syndrome, Adrenocortical carcinoma, hereditary, Li-Fraumeni syndrome 1,
Basal cell carcinoma, susceptibility to, 7, Hepatocellular carcinoma, Colorectal cancer,
Familial cancer of breast, Glioma susceptibility 1, Bone osteosarcoma,
Nasopharyngeal carcinoma, Carcinoma of pancreasChoroid plexus papilloma,
Bone marrow failure syndrome 5, ...see more | Pathogenic
(May 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121229
- GRCh38:
- Chr22:28725241
| CHEK2 | | Li-Fraumeni syndrome 2, Bone osteosarcoma, Familial cancer of breast,
Malignant tumor of prostate, not provided, Familial cancer of breast,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Sep 17, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29095867
- GRCh38:
- Chr22:28699879
| CHEK2 | T323P, T366P, T102P, T256P | Li-Fraumeni syndrome 2, Bone osteosarcoma, Familial cancer of breast,
Malignant tumor of prostate, not provided, Familial cancer of breast,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Mar 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29090118
- GRCh38:
- Chr22:28694130
| CHEK2 | | Li-Fraumeni syndrome 2, Bone osteosarcoma, Familial cancer of breast,
Malignant tumor of prostate, Familial cancer of breast, not provided,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29095897
- GRCh38:
- Chr22:28699909
| CHEK2 | V313M, V92M, V356M, V246M | Familial cancer of breast, Bone osteosarcoma, Li-Fraumeni syndrome 2,
Familial cancer of breast, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29108003
- GRCh38:
- Chr22:28712015
| CHEK2 | G229D, G8D, G272D, G162D | Familial cancer of breast, Bone osteosarcoma, Li-Fraumeni syndrome 2,
Familial cancer of breast, Malignant tumor of prostate, Colorectal cancer,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577521
- GRCh38:
- Chr17:7674203
| TP53 | I215V, I122V, I254V, I95V | Li-Fraumeni syndrome 1 | Likely benign
(Aug 3, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7577508
- GRCh38:
- Chr17:7674190
| TP53 | E126G, E219G, E258G, E99G | Bone osteosarcoma, Li-Fraumeni syndrome | Conflicting interpretations of pathogenicity
(Dec 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7579924
- GRCh38:
- Chr17:7676606
| TP53 | | Hereditary cancer-predisposing syndrome, Choroid plexus papilloma, Nasopharyngeal carcinoma,
Adrenocortical carcinoma, hereditary, Carcinoma of pancreas, Hepatocellular carcinoma,
Colorectal cancer, Familial cancer of breast, Glioma susceptibility 1,
Bone marrow failure syndrome 5, Bone osteosarcomaLi-Fraumeni syndrome 1,
Basal cell carcinoma, susceptibility to, 7, not specified, Li-Fraumeni syndrome 1,
...see more | Likely benign
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577093
- GRCh38:
- Chr17:7673775
| TP53 | R150P, R243P, R282P, R123P | Li-Fraumeni syndrome 1, Basal cell carcinoma, susceptibility to, 7, Bone marrow failure syndrome 5,
Adrenocortical carcinoma, hereditary, Carcinoma of pancreas, Familial cancer of breast,
Glioma susceptibility 1, Bone osteosarcoma, Colorectal cancer,
Nasopharyngeal carcinoma, Choroid plexus papillomaHepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1,
Squamous cell carcinoma of the head and neck, ...see more | Pathogenic/Likely pathogenic
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7577120
- GRCh38:
- Chr17:7673802
| TP53 | R141L, R234L, R273L, R114L | Li-Fraumeni syndrome 1, Basal cell carcinoma, susceptibility to, 7, Bone marrow failure syndrome 5,
Adrenocortical carcinoma, hereditary, Carcinoma of pancreas, Familial cancer of breast,
Glioma susceptibility 1, Bone osteosarcoma, Colorectal cancer,
Nasopharyngeal carcinoma, Choroid plexus papillomaHepatocellular carcinoma,
not provided, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1,
Hereditary cancer-predisposing syndrome, ...see more | Pathogenic
(Jan 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29099564
- GRCh38:
- Chr22:28703576
| CHEK2 | | not specified, not provided, Colorectal cancer,
Malignant tumor of prostate, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Hereditary cancer-predisposing syndrome, Familial cancer of breast
| Benign/Likely benign
(Mar 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578469
- GRCh38:
- Chr17:7675151
| TP53 | G115D, G154D, G22D | Li-Fraumeni syndrome 1 | Uncertain significance
(Aug 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr22:29095914
- GRCh38:
- Chr22:28699926
| CHEK2 | G307E, G350E, G86E, G240E | Hereditary cancer-predisposing syndrome, Familial cancer of breast, not provided,
Familial cancer of breast, Bone osteosarcoma, Colorectal cancer,
Li-Fraumeni syndrome 2, Malignant tumor of prostate | Uncertain significance
(Jun 14, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29091112
- GRCh38:
- Chr22:28695124
| CHEK2 | | Familial cancer of breast, Familial cancer of breast, Bone osteosarcoma,
Li-Fraumeni syndrome 2, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29095872
- GRCh38:
- Chr22:28699884
| CHEK2 | E321A, E254A, E100A, E364A | Familial cancer of breast, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 2,
not provided, Familial cancer of breast, Bone osteosarcoma,
Colorectal cancer, Li-Fraumeni syndrome 2, Malignant tumor of prostate
| Uncertain significance
(Dec 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130576
- GRCh38:
- Chr22:28734588
| CHEK2 | T45M | not specified, Familial cancer of breast, Hereditary cancer-predisposing syndrome,
not provided, Familial cancer of breast, Bone osteosarcoma,
Colorectal cancer, Li-Fraumeni syndrome 2, Malignant tumor of prostate
| Uncertain significance
(Jun 5, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29092906
- GRCh38:
- Chr22:28696918
| CHEK2 | E360K, E139K, E403K, E293K | Familial cancer of breast, Bone osteosarcoma, Li-Fraumeni syndrome 2,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, not provided,
Familial cancer of breast | Uncertain significance
(May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7579596
- GRCh38:
- Chr17:7676278
| TP53 | | Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome 1, not specified,
not provided, Breast and/or ovarian cancer, Adrenocortical carcinoma, hereditary,
Familial cancer of breast, Bone osteosarcoma, Li-Fraumeni syndrome 1,
Nasopharyngeal carcinoma, Carcinoma of pancreasColorectal cancer,
Basal cell carcinoma, susceptibility to, 7, Bone marrow failure syndrome 5, Glioma susceptibility 1,
Choroid plexus papilloma, Hepatocellular carcinoma, Hereditary cancer-predisposing syndrome,
Li-Fraumeni syndrome, ...see more | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29107947
- GRCh38:
- Chr22:28711959
| CHEK2 | I248V, I291V, I27V, I181V | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Malignant tumor of prostate, not specified,
not provided, Familial cancer of breast | Uncertain significance
(Jul 31, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29115474
- GRCh38:
- Chr22:28719486
| CHEK2 | | Familial cancer of breast, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Colorectal cancer, Malignant tumor of prostate,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Mar 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7574003
- GRCh38:
- Chr17:7670685
| TP53 | R210*, R303*, R342*, R183* | Adrenocortical carcinoma, hereditary, Glioma susceptibility 1, Li-Fraumeni syndrome 1,
Familial cancer of breast, Bone osteosarcoma, Bone marrow failure syndrome 5,
Hepatocellular carcinoma, Basal cell carcinoma, susceptibility to, 7, Nasopharyngeal carcinoma,
Carcinoma of pancreas, Choroid plexus papillomaColorectal cancer,
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1, not provided,
Li-Fraumeni syndrome, ...see more | Pathogenic
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7574027
- GRCh38:
- Chr17:7670709
| TP53 | G202R, G295R, G334R, G175R | Li-Fraumeni syndrome | Uncertain significance
(Aug 26, 2021) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7578159
- GRCh38:
- Chr17:7674841
| TP53 | | Hereditary cancer-predisposing syndrome, Adrenocortical carcinoma, hereditary, Glioma susceptibility 1,
Li-Fraumeni syndrome 1, Familial cancer of breast, Bone osteosarcoma,
Bone marrow failure syndrome 5, Hepatocellular carcinoma, Basal cell carcinoma, susceptibility to, 7,
Nasopharyngeal carcinoma, Carcinoma of pancreasChoroid plexus papilloma,
Colorectal cancer, not specified, Hereditary breast ovarian cancer syndrome,
Li-Fraumeni syndrome, Li-Fraumeni syndrome 1, Breast and/or ovarian cancer,
...see more | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29092960
- GRCh38:
- Chr22:28696972
| CHEK2 | G342S, G121S, G275S, G385S | Malignant tumor of prostate, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Hereditary cancer-predisposing syndrome, not provided,
Familial cancer of breast | Uncertain significance
(May 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121266
- GRCh38:
- Chr22:28725278
| CHEK2 | R137*, R180* | Congenital heart defects, multiple types, 3, Malignant tumor of prostate, Familial cancer of breast,
Li-Fraumeni syndrome 2, Bone osteosarcoma, not provided,
Hereditary breast ovarian cancer syndrome, CHEK2-Related Cancer Susceptibility, Familial cancer of breast,
Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130540
- GRCh38:
- Chr22:28734552
| CHEK2 | S57F | Malignant tumor of prostate, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, not specified, not provided,
Familial cancer of breast, Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29091779
- GRCh38:
- Chr22:28695791
| CHEK2 | P393L, P326L, P364L, P436L, P172L | Malignant tumor of prostate, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, not provided, Familial cancer of breast,
Hereditary cancer-predisposing syndrome | Uncertain significance
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29106048
- GRCh38:
- Chr22:28710060
| CHEK2 | | not provided, Familial cancer of breast, Malignant tumor of prostate,
Colorectal cancer, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Mar 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29091741
- GRCh38:
- Chr22:28695753
| CHEK2 | R406C, R185C, R339C, R377C, R449C | CHEK2-related condition, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Li-Fraumeni syndrome 2, Bone osteosarcoma, Malignant tumor of prostate,
not specified, not provided, Familial cancer of breast
| Conflicting interpretations of pathogenicity
(Oct 16, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29085155
- GRCh38:
- Chr22:28689167
| CHEK2 | E504Q, E437Q, E475Q, E283Q, E547Q | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Malignant tumor of prostate, not specified,
not provided, Familial cancer of breast | Conflicting interpretations of pathogenicity
(Sep 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29083935
- GRCh38:
- Chr22:28687947
| CHEK2 | E528K, E571K, E307K, E461K, E499K | CHEK2-Related Cancer Susceptibility, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial cancer of breast, Li-Fraumeni syndrome 2,
Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate,
Colorectal cancer | Uncertain significance
(Aug 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130389
- GRCh38:
- Chr22:28734401
| CHEK2 | | Breast cancer, susceptibility to, Prostate cancer, susceptibility to, Hereditary cancer-predisposing syndrome,
Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma,
Malignant tumor of prostate, not provided, Familial cancer of breast
| Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29095903
- GRCh38:
- Chr22:28699915
| CHEK2 | D311N, D354N, D244N, D90N | Hereditary cancer-predisposing syndrome, not specified, not provided,
Familial cancer of breast, Li-Fraumeni syndrome 2, Familial cancer of breast,
Bone osteosarcoma, Malignant tumor of prostate, Colorectal cancer
| Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29092948
- GRCh38:
- Chr22:28696960
| CHEK2 | R346C, R125C, R389C, R279C | Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, not specified,
not provided, Hereditary breast ovarian cancer syndrome, Familial cancer of breast
| Uncertain significance
(Sep 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130534
- GRCh38:
- Chr22:28734546
| CHEK2 | T59K | Inborn genetic diseases, Li-Fraumeni syndrome 2, Familial cancer of breast,
Bone osteosarcoma, Malignant tumor of prostate, Hereditary cancer-predisposing syndrome,
not provided, Familial cancer of breast | Uncertain significance
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121001
- GRCh38:
- Chr22:28725013
| CHEK2 | N186H, N229H | CHEK2-related condition, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 2,
Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate,
not specified, not provided, Hereditary breast ovarian cancer syndrome,
Familial cancer of breast | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29085131
- GRCh38:
- Chr22:28689143
| CHEK2 | L512V, L291V, L445V, L483V, L555V | Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 2, Familial cancer of breast,
Bone osteosarcoma, Malignant tumor of prostate, not provided,
Familial cancer of breast | Conflicting interpretations of pathogenicity
(Apr 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577139
- GRCh38:
- Chr17:7673821
| TP53 | R135W, R228W, R267W, R108W | Breast and/or ovarian cancer, Bone osteosarcoma, Nasopharyngeal carcinoma,
Carcinoma of pancreas, Choroid plexus papilloma, Carcinoma of colon,
Basal cell carcinoma, susceptibility to, 7, Adrenocortical carcinoma, hereditary, Familial cancer of breast,
Li-Fraumeni syndrome 1, Glioma susceptibility 1Hepatocellular carcinoma,
Hereditary cancer-predisposing syndrome, not provided, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome, Familial cancer of breast, ...see more | Pathogenic/Likely pathogenic
(Oct 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130494
- GRCh38:
- Chr22:28734506
| CHEK2 | Y72* | Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Familial cancer of breast
| Pathogenic
(Jun 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121241
- GRCh38:
- Chr22:28725253
| CHEK2 | R145Q, R188Q | CHEK2-Related Cancer Susceptibility, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial cancer of breast, Li-Fraumeni syndrome 2,
Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate,
Colorectal cancer | Uncertain significance
(Aug 22, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29090058
- GRCh38:
- Chr22:28694070
| CHEK2 | F475I, F254I, F408I, F446I, F518I | CHEK2-related condition, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial cancer of breast, Li-Fraumeni syndrome 2,
Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate,
Colorectal cancer | Conflicting interpretations of pathogenicity
(Sep 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091816
- GRCh38:
- Chr22:28695828
| CHEK2 | M381V, M160V, M424V, M314V, M352V | Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial cancer of breast | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29090030
- GRCh38:
- Chr22:28694042
| CHEK2 | P484L, P455L, P417L, P527L, P263L | CHEK2-related condition, Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer,
not specified, not provided, Familial cancer of breast,
Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Colorectal cancer, Malignant tumor of prostate ...see more | Conflicting interpretations of pathogenicity
(May 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29107934
- GRCh38:
- Chr22:28711946
| CHEK2 | S252N, S295N, S31N, S185N | Li-Fraumeni syndrome 2, Familial cancer of breast, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, not specified,
not provided, Hereditary breast ovarian cancer syndrome, Familial cancer of breast
| Conflicting interpretations of pathogenicity
(Oct 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7579368
- GRCh38:
- Chr17:7676050
| TP53 | Y107H, Y68H | Li-Fraumeni syndrome | Benign
(Aug 28, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr22:29130427
- GRCh38:
- Chr22:28734439
| CHEK2 | R95* | Hereditary cancer-predisposing syndrome, not specified, not provided,
Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Li-Fraumeni syndrome 2,
Familial cancer of breast, Bone osteosarcoma, Malignant tumor of prostate,
Colorectal cancer | Pathogenic
(Mar 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45854919
- GRCh38:
- Chr19:45351661
| ERCC2 | K751Q | not specified, not provided, Trichothiodystrophy 1, photosensitive,
Xeroderma pigmentosum, group D, Cerebrooculofacioskeletal syndrome 2 | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29095881
- GRCh38:
- Chr22:28699893
| CHEK2 | R318H, R361H, R251H, R97H | Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer, not specified,
not provided, Familial cancer of breast, Familial cancer of breast,
Li-Fraumeni syndrome 2, Bone osteosarcoma, Malignant tumor of prostate,
Colorectal cancer | Uncertain significance
(Aug 29, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29130553
- GRCh38:
- Chr22:28734565
| CHEK2 | S53T | CHEK2-Related Cancer Susceptibility, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
Li-Fraumeni syndrome 2, Malignant tumor of prostate, Bone osteosarcoma,
not specified, not provided, Familial cancer of breast
| Conflicting interpretations of pathogenicity
(Aug 23, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7578470
- GRCh38:
- Chr17:7675152
| TP53 | G115S, G154S, G22S | Adrenocortical carcinoma, hereditary, Hepatocellular carcinoma, Familial cancer of breast,
Li-Fraumeni syndrome 1, Colorectal cancer, Bone marrow failure syndrome 5,
Bone osteosarcoma, Glioma susceptibility 1, Nasopharyngeal carcinoma,
Carcinoma of pancreas, Choroid plexus papillomaBasal cell carcinoma, susceptibility to, 7,
not provided, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome,
Hereditary cancer-predisposing syndrome, not specified, ...see more | Uncertain significance
(Aug 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29095854
- GRCh38:
- Chr22:28699866
| CHEK2 | Y327C, Y106C, Y260C, Y370C | Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Familial cancer of breast, CHEK2-related condition,
Hereditary cancer-predisposing syndrome, not provided | Uncertain significance
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29099495
- GRCh38:
- Chr22:28703507
| CHEK2 | E302D, E235D, E81D, E345D | Hereditary cancer-predisposing syndrome, not specified, Familial cancer of breast,
CHEK2-related condition, not provided, Familial cancer of breast,
Li-Fraumeni syndrome 2, Bone osteosarcoma, Malignant tumor of prostate,
Colorectal cancer | Uncertain significance
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29107938
- GRCh38:
- Chr22:28711950
| CHEK2 | I251F, I184F, I294F, I30F | Familial cancer of breast, not specified, not provided,
Hereditary cancer-predisposing syndrome, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Malignant tumor of prostate, Colorectal cancer
| Uncertain significance
(Jul 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29120992
- GRCh38:
- Chr22:28725004
| CHEK2 | I189V, I232V | Familial cancer of breast, not provided, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Colorectal cancer | Uncertain significance
(Jul 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121230
- GRCh38:
- Chr22:28725242
| CHEK2 | | Melanoma, CHEK2-Related Cancer Susceptibility, Hereditary cancer-predisposing syndrome,
Familial cancer of breast, Li-Fraumeni syndrome 2, Malignant tumor of prostate,
Bone osteosarcoma, Colorectal cancer, not provided,
Breast and colorectal cancer, susceptibility to, Li-Fraumeni syndrome 2Familial cancer of breast,
Breast cancer, susceptibility to, ...see more | Conflicting interpretations of pathogenicity
(Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29121275
- GRCh38:
- Chr22:28725287
| CHEK2 | D134H, D177H | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast,
Familial cancer of breast, Li-Fraumeni syndrome 2, Malignant tumor of prostate,
Colorectal cancer, Bone osteosarcoma | Uncertain significance
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29121326
- GRCh38:
- Chr22:28725338
| CHEK2 | R117G, R160G | Familial cancer of breast, CHEK2-related disorder, not provided,
Malignant tumor of breast, CHEK2-Related Cancer Susceptibility, Hereditary breast ovarian cancer syndrome,
Predisposition to cancer, Prostate cancer, susceptibility to, Breast cancer, susceptibility to,
Breast and/or ovarian cancer, Hereditary cancer-predisposing syndromeLi-Fraumeni syndrome 2,
Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Colorectal cancer, ...see more | Pathogenic/Likely pathogenic
(Mar 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29083961
- GRCh38:
- Chr22:28687973
| CHEK2 | R519L, R562L, R452L, R490L, R298L | Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, not specified, CHEK2-related condition,
not provided, Hereditary cancer-predisposing syndrome, Predisposition to cancer,
Breast and/or ovarian cancer, Familial cancer of breast ...see more | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29085140
- GRCh38:
- Chr22:28689152
| CHEK2 | P509S, P442S, P480S, P288S, P552S | Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
not specified, CHEK2-related condition, not provided
| Conflicting interpretations of pathogenicity
(Apr 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29090061
- GRCh38:
- Chr22:28694073
| CHEK2 | R474C, R253C, R445C, R407C, R517C | Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, not specified,
not provided, Familial cancer of breast | Conflicting interpretations of pathogenicity
(Aug 22, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091178
- GRCh38:
- Chr22:28695190
| CHEK2 | D438Y, D217Y, D371Y, D409Y, D481Y | Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome, Familial cancer of breast,
not specified, CHEK2-related condition, CHEK2-Related Cancer Susceptibility,
Breast and/or ovarian cancer, Li-Fraumeni syndrome 2not provided,
...see more | Conflicting interpretations of pathogenicity
(Aug 28, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091220
- GRCh38:
- Chr22:28695232
| CHEK2 | Y424H, Y357H, Y203H, Y467H, Y395H | Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, CHEK2-related condition, Familial cancer of breast,
CHEK2-Related Cancer Susceptibility, Hereditary cancer-predisposing syndrome, not specified,
not provided | Conflicting interpretations of pathogenicity
(Oct 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091227
- GRCh38:
- Chr22:28695239
| CHEK2 | S355fs, S201fs, S393fs, S422fs, S465fs | Breast and/or ovarian cancer, Familial cancer of breast, CHEK2-Related Cancer Susceptibility,
Hereditary breast ovarian cancer syndrome, Predisposition to cancer, Hereditary cancer-predisposing syndrome,
not provided, Li-Fraumeni syndrome 2, Familial cancer of breast,
Li-Fraumeni syndrome 2, Bone osteosarcomaMalignant tumor of prostate,
Colorectal cancer, ...see more | Pathogenic/Likely pathogenic
(Apr 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:29091742
- GRCh38:
- Chr22:28695754
| CHEK2 | N405K, N338K, N376K, N184K, N448K | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Malignant tumor of prostate, not provided,
Familial cancer of breast | Conflicting interpretations of pathogenicity
(Oct 11, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091824
- GRCh38:
- Chr22:28695836
| CHEK2 | T378I, T157I, T311I, T349I, T421I | not specified, not provided, Familial cancer of breast,
Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091846
- GRCh38:
- Chr22:28695858
| CHEK2 | H371Y, H304Y, H342Y, H414Y, H150Y | CHEK2-related condition, Hereditary cancer-predisposing syndrome, Breast neoplasm,
not provided, not specified, Hereditary breast ovarian cancer syndrome,
Familial cancer of breast, Familial cancer of breast, Li-Fraumeni syndrome 2,
Malignant tumor of prostate, Colorectal cancerBone osteosarcoma,
...see more | Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091857
- GRCh38:
- Chr22:28695869
| CHEK2 | T146fs, T338fs, T410fs, T300fs, T367fs | Predisposition to cancer, CHEK2-Related Cancer Susceptibility, CHEK2-related condition,
Familial cancer of breast, Malignant tumor of prostate, Colorectal cancer,
Breast and/or ovarian cancer, Familial cancer of breast, Li-Fraumeni syndrome 2,
Malignant tumor of prostate, Bone osteosarcomaAstrocytoma,
Colorectal cancer, Breast neoplasm, Hereditary cancer-predisposing syndrome,
not provided, Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome, Breast and colorectal cancer, susceptibility to, Li-Fraumeni syndrome 2,
Familial cancer of breast, Thrombocytopenia, Inflammation of the large intestine,
Colitis, Hematochezia, ...see more | Conflicting interpretations of pathogenicity
(Oct 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29130715
- GRCh38:
- Chr22:28734727
| CHEK2 | | not specified, Familial cancer of breast, Hereditary cancer-predisposing syndrome,
not provided, Familial cancer of breast, Li-Fraumeni syndrome 2,
Bone osteosarcoma, Malignant tumor of prostate, Colorectal cancer
| Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7577091
- GRCh38:
- Chr17:7673773
| TP53 | R151C, R244C, R283C, R124C | Li-Fraumeni syndrome | Likely benign
(Mar 18, 2022) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7578190
- GRCh38:
- Chr17:7674872
| TP53 | Y181C, Y220C, Y88C, Y61C | Li-Fraumeni syndrome | Pathogenic
(Aug 28, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr17:7578464
- GRCh38:
- Chr17:7675146
| TP53 | R117C, R156C, R24C | Adrenocortical carcinoma, hereditary, Hepatocellular carcinoma, Familial cancer of breast,
Li-Fraumeni syndrome 1, Bone osteosarcoma, Carcinoma of colon,
Glioma susceptibility 1, Nasopharyngeal carcinoma, Carcinoma of pancreas,
Choroid plexus papilloma, Basal cell carcinoma, susceptibility to, 7Hereditary cancer-predisposing syndrome,
not specified, not provided, Li-Fraumeni syndrome 1,
Li-Fraumeni syndrome, ...see more | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:29091154
- GRCh38:
- Chr22:28695166
| CHEK2 | N446D, N225D, N489D, N379D, N417D | Familial cancer of breast, Li-Fraumeni syndrome 2, Bone osteosarcoma,
Malignant tumor of prostate, Familial cancer of breast, CHEK2-Related Cancer Susceptibility,
Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome, not specified,
not provided | Conflicting interpretations of pathogenicity
(Aug 15, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr13:48947629
- GRCh38:
- Chr13:48373493
| RB1 | | Malignant tumor of urinary bladder, Small cell lung carcinoma, Bone osteosarcoma,
Retinoblastoma, Hereditary cancer-predisposing syndrome, Retinoblastoma
| Conflicting interpretations of pathogenicity
(Aug 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:7579548
- GRCh38:
- Chr17:7676230
| TP53 | P47S, P8S | Li-Fraumeni syndrome | Benign
(Aug 28, 2019) | reviewed by expert panel
FDA Recognized Database |
| - GRCh37:
- Chr14:105246551
- GRCh38:
- Chr14:104780214
| AKT1 | E17K | not provided, Cowden syndrome 6 | Pathogenic
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:49033844
- GRCh38:
- Chr13:48459708
| RB1 | | Malignant tumor of urinary bladder, Retinoblastoma, Bone osteosarcoma,
Small cell lung carcinoma, Hereditary cancer-predisposing syndrome, not provided,
Retinoblastoma | Pathogenic
(Oct 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr13:48953730
- GRCh38:
- Chr13:48379594
| RB1 | R445* | Hereditary cancer-predisposing syndrome, Small cell lung carcinoma, Retinoblastoma,
Malignant tumor of urinary bladder, Bone osteosarcoma, not provided,
Retinoblastoma | Pathogenic
(Sep 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:7578448-7578449
- GRCh38:
- Chr17:7675130-7675131
| TP53 | A2fs, A122fs, A161fs, A29fs | Choroid plexus papilloma, Bone osteosarcoma | Pathogenic
(May 20, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr17:7574017
- GRCh38:
- Chr17:7670699
| TP53 | R337H, R205H, R298H, R178H | Li-Fraumeni syndrome 1, Colorectal cancer, Basal cell carcinoma, susceptibility to, 7,
Choroid plexus papilloma, Nasopharyngeal carcinoma, Carcinoma of pancreas,
Familial cancer of breast, Hepatocellular carcinoma, Bone osteosarcoma,
Bone marrow failure syndrome 5, Glioma susceptibility 1Adrenocortical carcinoma, hereditary,
Hereditary cancer-predisposing syndrome, Breast neoplasm, not provided,
Hereditary breast ovarian cancer syndrome, Li-Fraumeni syndrome 1, Li-Fraumeni syndrome,
Squamous cell carcinoma of the head and neck, See cases, ...see more | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |