Total 49 pathogenic variants reported for Bone osteosarcoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	SNV Germline	Chr22:28725099	Conflicting classifications of pathogenicity; risk factor	Li-Fraumeni syndrome 2 Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Breast and colorectal cancer, susceptibility to Adrenal cortex carcinoma Gastrointestinal carcinoma Breast and/or ovarian cancer Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma Malignant tumor of breast Li-Fraumeni syndrome 2 Colorectal cancer Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL Malignant tumor of prostate Predisposition to cancer CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117630	rs_17879961	41 SubmittersRCV000005936 RCV000116018 RCV000120555 RCV000144596 RCV000212410 RCV000210131 RCV000626718 RCV001797993 RCV002054420 RCV001358111 RCV003224091 RCV003333685 RCV003447470 RCV002254675 RCV004528085 RCV004556709
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)	SNV Germline/somatic	Chr22:28734468	Conflicting classifications of pathogenicity	Bone osteosarcoma not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA117633	rs_17883862	25 SubmittersRCV000005942 RCV000120551 RCV000132520 RCV000196893 RCV000513573 RCV001355309 RCV001797994 RCV002225260
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser)	SNV Somatic	Chr22:28734673	Pathogenic	Bone osteosarcoma	No Assertion Criteria Provided	CA117636	rs_137853008	1 SubmittersRCV000005943
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)	SNV Germline	Chr22:28725027	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma not specified Malignant tumor of breast Li-Fraumeni syndrome 2 Breast and/or ovarian cancer Malignant tumor of prostate CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117641	rs_121908701	20 SubmittersRCV000114761 RCV000129670 RCV000233960 RCV001030688 RCV000765623 RCV001193685 RCV001357854 RCV001294022 RCV001797995 RCV003333687 RCV004556711
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	SNV Germline	Chr22:28695219	Pathogenic/Likely pathogenic/Pathogenic, low penetrance/Established risk allele	Breast cancer, susceptibility to Hereditary cancer-predisposing syndrome Familial cancer of breast Breast neoplasm Breast and colorectal cancer, susceptibility to Condition: not provided Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome Malignant tumor of breast CHEK2-related cancer risk TUMOR PREDISPOSITION SYNDROME 4, BREAST Breast and/or ovarian cancer CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA250528	rs_137853011	33 SubmittersRCV000005953 RCV000115994 RCV000197718 RCV000388223 RCV000210180 RCV000212459 RCV000515286 RCV000586482 RCV001354412 RCV001449813 RCV003333691 RCV003492287 RCV004532295 RCV004556712
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	SNV Germline	ChrX:77520832	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Ambiguous genitalia Intellectual disability, severe Cryptorchidism Microcephaly Bone osteosarcoma Condition: not provided Intellectual disability-hypotonic facies syndrome, X-linked, 1 See cases ATRX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256034	rs_122445099	7 SubmittersRCV000012494 RCV000735339 RCV000723525 RCV002283442 RCV003156057 RCV004532323
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Hepatoblastoma Bone osteosarcoma Hereditary cancer-predisposing syndrome Non-Hodgkin lymphoma Brainstem glioma Uterine carcinosarcoma Papillary renal cell carcinoma, sporadic Neoplasm of brain Gallbladder carcinoma Squamous cell carcinoma of the skin Carcinoma of esophagus Breast neoplasm Malignant neoplasm of body of uterus Malignant melanoma of skin Neoplasm of the large intestine Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Glioblastoma Transitional cell carcinoma of the bladder Papillary renal cell carcinoma type 1 Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm of ovary 12 conditions Lip and oral cavity carcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000359	rs_28934573	11 SubmittersRCV000013153 RCV000013154 RCV000130168 RCV000418653 RCV000421750 RCV000426907 RCV000430665 RCV000433125 RCV000441622 RCV000417576 RCV000422867 RCV000423921 RCV000435867 RCV000429321 RCV000436959 RCV000438965 RCV000441398 RCV000426268 RCV000428255 RCV000434173 RCV000436527 RCV000444801 RCV000559355 RCV002288485 RCV000785290 RCV002496336 RCV001255673 RCV003114189
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	SNV Germline	Chr13:48379594	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Retinoblastoma Bone osteosarcoma Small cell lung carcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA026371	rs_3092891	7 SubmittersRCV000013946 RCV000492544 RCV002496351 RCV002508188
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	SNV Germline/somatic	Chr13:48459708	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Vulvar adenocarcinoma of mammary gland type Retinoblastoma Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA026417	rs_137853294	12 SubmittersRCV000013962 RCV000492717 RCV000510137 RCV000763335 RCV000790652
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	SNV Germline/somatic	Chr14:104780214	Pathogenic	Breast adenocarcinoma Carcinoma of colon Neoplasm of ovary Proteus syndrome Breast neoplasm Non-small cell lung carcinoma Neoplasm of uterine cervix Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Hepatocellular carcinoma Prostate adenocarcinoma Small cell lung carcinoma Gastric adenocarcinoma Malignant melanoma of skin Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Tumor of meninges Thyroid tumor Bone osteosarcoma Prostate neoplasm Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Lung adenocarcinoma Cowden syndrome 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123660	rs_121434592	6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000430173 RCV000436698 RCV000438154 RCV000440828 RCV000443761 RCV000444311 RCV000419412 RCV000421850 RCV000427484 RCV000426386 RCV000429060 RCV000439982 RCV000434120 RCV000421009 RCV000421696 RCV000445271 RCV000431237 RCV000431723 RCV000795313 RCV001813745
NM_000321.3(RB1):c.1215+1G>A	SNV Germline/somatic	Chr13:48373493	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Retinoblastoma Malignant tumor of urinary bladder Bone osteosarcoma Small cell lung carcinoma Malignant tumor of urinary bladder	Criteria Provided Conflicting Classifications	CA026367	rs_587776783	12 SubmittersRCV000114724 RCV000492136 RCV000763334 RCV003460796
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp)	SNV Germline	Chr22:28695166	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA230682	rs_121908705	16 SubmittersRCV000114765 RCV000196666 RCV000160437 RCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV004556718
NM_007194.4(CHEK2):c.-6G>A	SNV Germline	Chr22:28734727	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided not specified Malignant tumor of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288250	rs_376995740	10 SubmittersRCV000197200 RCV000590166 RCV000722128 RCV001357979 RCV000776065 RCV003224152 RCV004542827
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)	SNV Germline/somatic	Chr22:28695858	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Breast neoplasm Malignant tumor of breast Familial cancer of breast Neoplasm of ovary Lung cancer Hereditary breast ovarian cancer syndrome Bone osteosarcoma CHEK2-related disorder Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Colorectal cancer	Criteria Provided Conflicting Classifications	CA288254	rs_531398630	18 SubmittersRCV000115982 RCV000212449 RCV000197709 RCV000656834 RCV000677873 RCV001355387 RCV001527478 RCV001030625 RCV003448266 RCV004529939 RCV002477284
NM_007194.4(CHEK2):c.1133C>T (p.Thr378Ile)	SNV Germline	Chr22:28695836	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast not specified CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288258	rs_587780167	13 SubmittersRCV000115984 RCV000231285 RCV000656835 RCV000764376 RCV001420894 RCV004529940
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)	SNV Germline	Chr22:28695754	Conflicting classifications of pathogenicity	Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate	Criteria Provided Conflicting Classifications	CA288266	rs_587780171	10 SubmittersRCV000115989 RCV000199599 RCV000219945 RCV000764373
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)	SNV Germline	Chr22:28695232	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Condition: not provided not specified Malignant tumor of breast CHEK2-related disorder Breast and/or ovarian cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA288272	rs_139366548	24 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV004528802 RCV003492501 RCV004556723
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	SNV Germline	Chr22:28695190	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Malignant tumor of breast Li-Fraumeni syndrome 2 Carcinoma of colon Breast and/or ovarian cancer Hereditary breast ovarian cancer syndrome CHEK2-related disorder Hereditary cancer CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA151527	rs_200050883	33 SubmittersRCV000115996 RCV000200982 RCV000199565 RCV000587890 RCV000515311 RCV001269492 RCV001294021 RCV001356041 RCV001798350 RCV003483481 RCV004528803 RCV003492502 RCV004556724
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys)	SNV Germline	Chr22:28694073	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Lung carcinoma Familial cancer of breast Malignant tumor of prostate Carcinoma of colon Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Condition: not provided not specified Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA288280	rs_540635787	17 SubmittersRCV000115999 RCV000206044 RCV000234795 RCV000764370 RCV000588723 RCV002222396 RCV003493445
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)	SNV Germline	Chr22:28689152	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast not specified CHEK2-related disorder Malignant tumor of prostate Familial cancer of breast Colorectal cancer	Criteria Provided Conflicting Classifications	CA288288	rs_587780179	14 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV004528805 RCV003483482
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)	SNV Germline	Chr22:28687973	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Condition: not provided Predisposition to cancer Breast and/or ovarian cancer Malignant tumor of breast Hereditary cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288294	rs_587780180	28 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV002291560 RCV001798353 RCV001357730 RCV003492503 RCV004529941
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	SNV Germline	Chr22:28725338	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of breast Breast cancer, susceptibility to RECLASSIFIED - CDH1 POLYMORPHISM Hereditary breast ovarian cancer syndrome Li-Fraumeni syndrome 2 Breast and/or ovarian cancer Predisposition to cancer Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Colorectal cancer CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA288301	rs_28909982	41 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001263516 RCV001258041 RCV001374534 RCV001787918 RCV001798355 RCV001526815 RCV002498498 RCV004556728 RCV003114263
NM_007194.4(CHEK2):c.444+1G>A	SNV Germline	Chr22:28725242	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Breast and colorectal cancer, susceptibility to Breast cancer, susceptibility to Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Breast and/or ovarian cancer Malignant tumor of breast Breast carcinoma Li-Fraumeni syndrome 2 Colorectal cancer Li-Fraumeni syndrome 2 Familial cancer of breast Melanoma Endometrial carcinoma TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA288309	rs_121908698	48 SubmittersRCV000116017 RCV000196718 RCV000212418 RCV000210090 RCV000501923 RCV000763475 RCV001270936 RCV001354639 RCV001554253 RCV001705823 RCV002463642 RCV001171461 RCV002508922 RCV003128145 RCV003333693 RCV004556730
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)	SNV Germline	Chr22:28734565	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Condition: not provided CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA158095	rs_371657037	12 SubmittersRCV000120553 RCV000132037 RCV000231176 RCV000765627 RCV000766741 RCV004556735
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)	SNV Germline	Chr22:28734439	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Malignant tumor of breast Hereditary breast ovarian cancer syndrome Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma CHEK2-related cancer predisposition Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA163528	rs_587781269	20 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV001354537 RCV002225419 RCV002505102 RCV004556738 RCV003162571
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn)	SNV Germline	Chr22:28711946	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Hereditary breast ovarian cancer syndrome not specified	Criteria Provided Conflicting Classifications	CA163957	rs_587781379	11 SubmittersRCV000129204 RCV000214585 RCV000227256 RCV000765620 RCV001030685 RCV001201286
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu)	SNV Germline	Chr22:28694042	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Familial cancer of breast Condition: not provided Breast and/or ovarian cancer Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294010	rs_564605612	15 SubmittersRCV000129213 RCV000212468 RCV000206213 RCV000590757 RCV001798435 RCV002478384 RCV004528849
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)	SNV Germline	Chr22:28694070	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided not specified Malignant tumor of breast CHEK2-related disorder Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA294041	rs_370968992	15 SubmittersRCV000129382 RCV000206734 RCV000212464 RCV000781308 RCV001356630 RCV004528850 RCV002483259
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	SNV Germline	Chr22:28734506	Pathogenic	Hereditary cancer-predisposing syndrome Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA165273	rs_587781705	5 SubmittersRCV000129876 RCV000763478 RCV001247758
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)	SNV Germline	Chr22:28689143	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA166627	rs_17882942	10 SubmittersRCV000130543 RCV000197078 RCV000587712 RCV000764367
NM_007194.4(CHEK2):c.556A>C (p.Asn186His)	SNV Germline	Chr22:28725013	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma not specified Endometrial carcinoma Hereditary breast ovarian cancer syndrome CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294225	rs_146198085	22 SubmittersRCV000130733 RCV000198345 RCV000589669 RCV000515236 RCV000855592 RCV001356295 RCV002225433 RCV004532565
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn)	SNV Germline	Chr22:28699915	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast not specified Malignant tumor of prostate Familial cancer of breast Colorectal cancer Li-Fraumeni syndrome 2 Bone osteosarcoma	Criteria Provided Conflicting Classifications	CA294339	rs_587782347	14 SubmittersRCV000131287 RCV000212441 RCV000231753 RCV002271417 RCV002483267
NM_007194.4(CHEK2):c.319+2T>A	SNV Germline	Chr22:28734401	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Familial cancer of breast Breast cancer, susceptibility to RECLASSIFIED - CDH1 POLYMORPHISM Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA294375	rs_587782401	16 SubmittersRCV000131434 RCV000212411 RCV000515447 RCV000545158 RCV001258067 RCV003492621
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln)	SNV Germline	Chr22:28689167	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma not specified	Criteria Provided Conflicting Classifications	CA168459	rs_587782489	10 SubmittersRCV000131614 RCV000198676 RCV000214263 RCV000764369 RCV001251282
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr22:28695753	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma not specified Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294433	rs_587782527	16 SubmittersRCV000131715 RCV000228975 RCV000515410 RCV000855593 RCV000587346 RCV001356488 RCV003492628 RCV004532574
NM_007194.4(CHEK2):c.793-1G>A	SNV Germline	Chr22:28710060	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of prostate Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA299073	rs_730881687	11 SubmittersRCV000160429 RCV000214915 RCV000464029 RCV002498796
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)	SNV Germline	Chr22:28725278	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Malignant tumor of prostate Bone osteosarcoma Congenital heart defects, multiple types, 3 Hereditary breast ovarian cancer syndrome Gastric cancer CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA299110	rs_730881701	17 SubmittersRCV000160452 RCV000229303 RCV000254656 RCV000763477 RCV001007871 RCV001526967 RCV003162676 RCV004556752
NM_007194.4(CHEK2):c.593-1G>T	SNV Germline	Chr22:28719486	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Colorectal cancer Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA336037	rs_786203229	9 SubmittersRCV000195929 RCV000566129 RCV002485316
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)	SNV Germline	Chr17:7674190	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Bone osteosarcoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16615703	rs_1060501201	3 SubmittersRCV000459389 RCV002272239 RCV004022605
NM_007194.4(CHEK2):c.444+2T>C	SNV Germline	Chr22:28725241	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of prostate Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA16621080	rs_560596101	9 SubmittersRCV000483398 RCV000562639 RCV000543761 RCV000763474
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	SNV Germline	Chr22:28725270	Pathogenic	Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Familial cancer of breast Malignant tumor of prostate Bone osteosarcoma Hereditary breast ovarian cancer syndrome Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA411107953	rs_200917541	9 SubmittersRCV000507030 RCV000541871 RCV000763476 RCV001375597 RCV000572280 RCV003150248
NM_000321.3(RB1):c.269G>T (p.Gly90Val)	SNV Germline	Chr13:48342603	Conflicting classifications of pathogenicity	Retinoblastoma Bone osteosarcoma Small cell lung carcinoma Malignant tumor of urinary bladder Retinoblastoma Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA037060	rs_554727080	4 SubmittersRCV000559096 RCV000763897 RCV003470733 RCV002438313
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)	SNV Germline	Chr13:48362946	Conflicting classifications of pathogenicity	Retinoblastoma Malignant tumor of urinary bladder Retinoblastoma Bone osteosarcoma Small cell lung carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039582	rs_761609284	5 SubmittersRCV000541240 RCV000763900 RCV001017932
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)	SNV Germline	Chr13:48362848	Conflicting classifications of pathogenicity	Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Conflicting Classifications		rs_772678500	4 SubmittersRCV000697570 RCV002388279 RCV000763899
NM_007194.4(CHEK2):c.684-2A>G	SNV Germline	Chr22:28712019	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma Malignant tumor of prostate	Criteria Provided Multiple Submitters No Conflicts		rs_2053419665	7 SubmittersRCV001377776 RCV002368214 RCV002499777