Total 53 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 Breast and colorectal cancer, susceptibility to Condition: not provided Adrenal cortex carcinoma Gastrointestinal carcinoma Malignant tumor of breast Breast and/or ovarian cancer Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Predisposition to cancer Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Colorectal cancer TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL Malignant tumor of prostate CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117630	rs_17879961	41 SubmittersRCV000005936 RCV000116018 RCV000120555 RCV000144596 RCV000210131 RCV000212410 RCV000626718 RCV001358111 RCV001797993 RCV002054420 RCV002254675 RCV003224091 RCV003333685 RCV003447470 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	Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome not specified Li-Fraumeni syndrome 2 Malignant tumor of breast Breast and/or ovarian cancer Malignant tumor of prostate CHEK2-related cancer predisposition	Criteria Provided Conflicting Classifications	CA117641	rs_121908701	20 SubmittersRCV000129670 RCV000114761 RCV000233960 RCV000765623 RCV001030688 RCV001193685 RCV001294022 RCV001357854 RCV001797995 RCV003333687 RCV004556711
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)	SNV Germline/somatic	Chr22:28711986	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Predisposition to cancer Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Colorectal cancer Malignant tumor of prostate CHEK2-related disorder Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA117644	rs_121908702	20 SubmittersRCV000114762 RCV000131201 RCV000205850 RCV001818140 RCV001789748 RCV002476934 RCV003333689 RCV004532294 RCV004760322
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)	SNV Germline	Chr22:28695219	Conflicting classifications of pathogenicity	Breast cancer, susceptibility to Breast and colorectal cancer, susceptibility to Hereditary cancer-predisposing syndrome Condition: not provided Familial cancer of breast Breast neoplasm Malignant tumor of prostate Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast 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 Inherited breast cancer and ovarian cancer	Criteria Provided Conflicting Classifications	CA250528	rs_137853011	35 SubmittersRCV000005953 RCV000210180 RCV000115994 RCV000212459 RCV000197718 RCV000388223 RCV000515286 RCV000586482 RCV001354412 RCV001449813 RCV003333691 RCV003492287 RCV004532295 RCV004556712 RCV004691717
NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter)	SNV Germline	ChrX:77520832	Pathogenic	Alpha thalassemia-X-linked intellectual disability syndrome Condition: not provided Cryptorchidism Intellectual disability, severe Bone osteosarcoma Microcephaly Ambiguous genitalia Intellectual disability-hypotonic facies syndrome, X-linked, 1 See cases ATRX-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256034	rs_122445099	8 SubmittersRCV000012494 RCV000723525 RCV000735339 RCV002283442 RCV003156057 RCV004532323
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Bone osteosarcoma Hepatoblastoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Ovarian neoplasm Lip and oral cavity carcinoma Li-Fraumeni syndrome 1 12 conditions Neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000359	rs_28934573	11 SubmittersRCV000013154 RCV000013153 RCV000130168 RCV000559355 RCV000785290 RCV001255673 RCV002288485 RCV002496336 RCV004668717 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 Bone osteosarcoma Small cell lung carcinoma Retinoblastoma 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 Retinoblastoma Small cell lung carcinoma Bone osteosarcoma Malignant tumor of urinary bladder Condition: not provided Vulvar adenocarcinoma of mammary gland type	Criteria Provided Multiple Submitters No Conflicts	CA026417	rs_137853294	13 SubmittersRCV000013962 RCV000492717 RCV000763335 RCV000790652 RCV004813036
NM_000321.3(RB1):c.607+1G>T	SNV Germline	Chr13:48349024	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Condition: not provided Malignant tumor of urinary bladder Small cell lung carcinoma Retinoblastoma Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA026463	rs_587776789	8 SubmittersRCV000013969 RCV000492204 RCV000484757 RCV004795405
NM_000321.3(RB1):c.1215+1G>A	SNV Germline/somatic	Chr13:48373493	Pathogenic	Retinoblastoma Hereditary cancer-predisposing syndrome Small cell lung carcinoma Bone osteosarcoma Retinoblastoma Malignant tumor of urinary bladder Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	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	Hereditary cancer-predisposing syndrome Familial cancer of breast Malignant tumor of prostate Li-Fraumeni syndrome 2 Bone osteosarcoma Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related cancer predisposition Condition: not provided not specified Familial cancer of breast	Criteria Provided Conflicting Classifications	CA230682	rs_121908705	16 SubmittersRCV000449435 RCV000515378 RCV001356532 RCV001798305 RCV004556718 RCV000114765 RCV000160437 RCV000196666
NM_007194.4(CHEK2):c.-6G>A	SNV Germline	Chr22:28734727	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome not specified Malignant tumor of breast Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288250	rs_376995740	10 SubmittersRCV000197200 RCV000590166 RCV000776065 RCV000722128 RCV001357979 RCV003224152 RCV004542827
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)	SNV Germline/somatic	Chr22:28695858	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Condition: not provided Breast neoplasm Hereditary breast ovarian cancer syndrome Malignant tumor of breast Familial cancer of breast Lung cancer Ovarian neoplasm Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer Bone osteosarcoma CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288254	rs_531398630	18 SubmittersRCV000115982 RCV000197709 RCV000212449 RCV000656834 RCV000677873 RCV001030625 RCV001355387 RCV001527478 RCV002477284 RCV003448266 RCV004529939
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys)	SNV Germline	Chr22:28695754	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Malignant tumor of prostate Familial cancer of breast Bone osteosarcoma Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA288266	rs_587780171	11 SubmittersRCV000115989 RCV000219945 RCV000199599 RCV000764373 RCV004764764
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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Condition: not provided not specified Malignant tumor of breast Breast and/or ovarian cancer CHEK2-related disorder CHEK2-related cancer predisposition Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA288272	rs_139366548	25 SubmittersRCV000115993 RCV000197909 RCV000515214 RCV000590008 RCV001175351 RCV001355460 RCV003492501 RCV004528802 RCV004556723 RCV004764765
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)	SNV Germline	Chr22:28695190	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial cancer of breast not specified Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Condition: not provided Malignant tumor of breast Li-Fraumeni syndrome 2 Carcinoma of colon Breast and/or ovarian cancer Hereditary cancer Hereditary breast ovarian cancer syndrome CHEK2-related cancer predisposition CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA151527	rs_200050883	33 SubmittersRCV000115996 RCV000199565 RCV000200982 RCV000515311 RCV000587890 RCV001269492 RCV001294021 RCV001356041 RCV001798350 RCV003492502 RCV003483481 RCV004556724 RCV004528803
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 Familial cancer of breast Malignant tumor of prostate Carcinoma of colon Lung carcinoma Condition: not provided Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 not specified Li-Fraumeni syndrome 2	Criteria Provided Conflicting Classifications	CA288280	rs_540635787	18 SubmittersRCV000115999 RCV000206044 RCV000234795 RCV000588723 RCV000764370 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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 not specified Familial cancer of breast Malignant tumor of prostate Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA288288	rs_587780179	14 SubmittersRCV000116004 RCV000200569 RCV000212472 RCV000764368 RCV000781300 RCV003483482 RCV004528805
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	SNV Germline	Chr22:28687974	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Breast and colorectal cancer, susceptibility to Condition: not provided Familial cancer of breast Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Li-Fraumeni syndrome 2 Gastric cancer Familial cancer of breast Familial prostate cancer Li-Fraumeni syndrome 2 Bone osteosarcoma Familial prostate cancer	Criteria Provided Multiple Submitters No Conflicts	CA288290	rs_200432447	20 SubmittersRCV000116005 RCV000210124 RCV000212474 RCV000471222 RCV000589100 RCV001798352 RCV001705822 RCV003162543 RCV004819219 RCV004796022
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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Condition: not provided Malignant tumor of breast Breast and/or ovarian cancer Predisposition to cancer CHEK2-related disorder Hereditary cancer	Criteria Provided Conflicting Classifications	CA288294	rs_587780180	28 SubmittersRCV000116007 RCV000198277 RCV000212476 RCV000515321 RCV000586195 RCV001357730 RCV001798353 RCV002291560 RCV004529941 RCV003492503
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 Prostate cancer susceptibility Breast cancer, susceptibility to Malignant tumor of breast Hereditary breast ovarian cancer syndrome Predisposition to cancer Li-Fraumeni syndrome 2 Breast and/or ovarian cancer Li-Fraumeni syndrome 2 Colorectal cancer Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA288301	rs_28909982	42 SubmittersRCV000116012 RCV000204429 RCV000212414 RCV001258041 RCV001263516 RCV001374534 RCV001526815 RCV001787918 RCV001798355 RCV002498498 RCV003114263 RCV004556728
NM_007194.4(CHEK2):c.444+1G>A	SNV Germline	Chr22:28725242	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Breast and colorectal cancer, susceptibility to Condition: not provided Breast cancer, susceptibility to Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Familial cancer of breast Breast and/or ovarian cancer Malignant tumor of breast Breast carcinoma Li-Fraumeni syndrome 2 Colorectal cancer Endometrial carcinoma Melanoma TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE CHEK2-related disorder CHEK2-related cancer predisposition Inherited breast cancer and ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA288309	rs_121908698	51 SubmittersRCV000116017 RCV000196718 RCV000210090 RCV000212418 RCV000501923 RCV000763475 RCV001171461 RCV001270936 RCV001354639 RCV001554253 RCV001705823 RCV002463642 RCV003128145 RCV002508922 RCV003333693 RCV004737199 RCV004556730 RCV004772840
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)	SNV Germline	Chr22:28734664	Conflicting classifications of pathogenicity	not specified Condition: not provided Familial cancer of breast Hereditary cancer-predisposing syndrome Familial ovarian cancer Breast carcinoma Li-Fraumeni syndrome 2 Inherited breast cancer and ovarian cancer Li-Fraumeni syndrome 2 Familial cancer of breast Bone osteosarcoma Familial prostate cancer	Criteria Provided Conflicting Classifications	CA158093	rs_536907995	22 SubmittersRCV000120552 RCV000255024 RCV000458969 RCV000579628 RCV001356492 RCV001640105 RCV003992188 RCV004584196 RCV004796025
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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 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 Li-Fraumeni syndrome 2 Bone osteosarcoma Colorectal cancer Familial cancer of breast Malignant tumor of prostate Gastric cancer CHEK2-related disorder CHEK2-related cancer predisposition	Criteria Provided Multiple Submitters No Conflicts	CA163528	rs_587781269	21 SubmittersRCV000128901 RCV000215973 RCV000232015 RCV001002335 RCV001354537 RCV002225419 RCV002505102 RCV003162571 RCV004737213 RCV004556738
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 Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 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 Familial cancer of breast not specified Condition: not provided Breast and/or ovarian cancer Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294010	rs_564605612	15 SubmittersRCV000129213 RCV000206213 RCV000212468 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 Condition: not provided Familial cancer of breast not specified Malignant tumor of breast Familial cancer of breast Bone osteosarcoma Malignant tumor of prostate Li-Fraumeni syndrome 2 Colorectal cancer CHEK2-related disorder Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA294041	rs_370968992	16 SubmittersRCV000129382 RCV000212464 RCV000206734 RCV000781308 RCV001356630 RCV002483259 RCV004528850 RCV004760388
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)	SNV Germline	Chr22:28734506	Pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA165273	rs_587781705	6 SubmittersRCV000129876 RCV001247758 RCV000763478 RCV004998264
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val)	SNV Germline	Chr22:28689143	Conflicting classifications of pathogenicity	Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate not specified	Criteria Provided Conflicting Classifications	CA166627	rs_17882942	10 SubmittersRCV000197078 RCV000587712 RCV000130543 RCV000764367 RCV004782245
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 Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Hereditary breast ovarian cancer syndrome Condition: not provided Endometrial carcinoma not specified CHEK2-related disorder	Criteria Provided Conflicting Classifications	CA294225	rs_146198085	22 SubmittersRCV000130733 RCV000198345 RCV000515236 RCV002225433 RCV000589669 RCV001356295 RCV000855592 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 Li-Fraumeni syndrome 2 Bone osteosarcoma Colorectal cancer Familial cancer of breast Malignant tumor of prostate	Criteria Provided Conflicting Classifications	CA294339	rs_587782347	15 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 Prostate cancer susceptibility Malignant tumor of breast	Criteria Provided Multiple Submitters No Conflicts	CA294375	rs_587782401	17 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 Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Hereditary cancer not specified Familial cancer of breast Condition: not provided	Criteria Provided Conflicting Classifications	CA168459	rs_587782489	11 SubmittersRCV000131614 RCV000764369 RCV004700451 RCV001251282 RCV000198676 RCV000214263
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)	SNV Germline	Chr22:28695753	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Hereditary cancer-predisposing syndrome Malignant tumor of breast Condition: not provided Familial cancer of breast CHEK2-related disorder Li-Fraumeni syndrome 2 not specified Breast and/or ovarian cancer	Criteria Provided Conflicting Classifications	CA294433	rs_587782527	18 SubmittersRCV000515410 RCV000131715 RCV001356488 RCV000587346 RCV000228975 RCV004532574 RCV004776434 RCV000855593 RCV003492628
NM_007194.4(CHEK2):c.592+3A>T	SNV Germline	Chr22:28724974	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Familial cancer of breast Condition: not provided Familial cancer of breast Li-Fraumeni syndrome 2 Breast carcinoma Hereditary breast ovarian cancer syndrome Malignant tumor of prostate CHEK2-related disorder Malignant tumor of breast Li-Fraumeni syndrome 2 Bone osteosarcoma Familial prostate cancer Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA294532	rs_587782849	26 SubmittersRCV000132447 RCV000228472 RCV000656830 RCV001171462 RCV001554293 RCV002468934 RCV003334383 RCV004532583 RCV004551270 RCV004760396 RCV004796033
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 Malignant tumor of prostate Colorectal cancer Bone osteosarcoma	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 Bone osteosarcoma Malignant tumor of prostate 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 Bone osteosarcoma Familial cancer of breast Colorectal cancer Malignant tumor of prostate	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 Familial cancer of breast Hereditary cancer-predisposing syndrome Malignant tumor of prostate Li-Fraumeni syndrome 2 Bone osteosarcoma Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA16621080	rs_560596101	10 SubmittersRCV000483398 RCV000543761 RCV000562639 RCV000763474
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)	SNV Germline	Chr22:28725270	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Familial cancer of breast Familial cancer of breast Bone osteosarcoma Li-Fraumeni syndrome 2 Malignant tumor of prostate Hereditary breast ovarian cancer syndrome Breast and/or ovarian cancer Familial prostate cancer Bone osteosarcoma Li-Fraumeni syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA411107953	rs_200917541	10 SubmittersRCV000507030 RCV000572280 RCV000541871 RCV000763476 RCV001375597 RCV003150248 RCV004796214
NM_000321.3(RB1):c.269G>T (p.Gly90Val)	SNV Germline	Chr13:48342603	Conflicting classifications of pathogenicity	Retinoblastoma Malignant tumor of urinary bladder Small cell lung carcinoma Bone osteosarcoma Retinoblastoma Hereditary cancer-predisposing syndrome Malignant tumor of urinary bladder Condition: not provided	Criteria Provided Conflicting Classifications	CA037060	rs_554727080	5 SubmittersRCV000559096 RCV000763897 RCV002438313 RCV003470733 RCV004772957
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)	SNV Germline	Chr13:48362946	Conflicting classifications of pathogenicity	Retinoblastoma Retinoblastoma Bone osteosarcoma Malignant tumor of urinary bladder Small cell lung carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA039582	rs_761609284	5 SubmittersRCV000541240 RCV000763900 RCV001017932
NM_007194.4(CHEK2):c.909-2A>G	SNV Germline	Chr22:28699939	Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Condition: not provided Bone osteosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA411100226	rs_1555915589	7 SubmittersRCV000576712 RCV000584150 RCV003886415 RCV004732484
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)	SNV Germline	Chr13:48362848	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		rs_772678500	4 SubmittersRCV000697570 RCV000763899 RCV002388279
NM_007194.4(CHEK2):c.684-2A>G	SNV Germline	Chr22:28712019	Pathogenic/Likely pathogenic	Familial cancer of breast Hereditary cancer-predisposing syndrome Bone osteosarcoma Familial cancer of breast Malignant tumor of prostate Colorectal cancer Li-Fraumeni syndrome 2 Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2053419665	8 SubmittersRCV001377776 RCV002368214 RCV002499777 RCV004764801