Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	SNV Germline/somatic	Chr10:43114501	Pathogenic	Multiple endocrine neoplasia type 2A Pheochromocytoma Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 4 Neoplasm Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia type 2B Medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008348	rs_75996173	22 SubmittersRCV000014924 RCV000014925 RCV000129490 RCV000182582 RCV000432822 RCV000421191 RCV000476408 RCV000422622 RCV000425364 RCV000438527 RCV003989285
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)	SNV Germline/somatic	Chr10:43113655	Pathogenic	Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Medullary thyroid carcinoma Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Aganglionic megacolon Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008076	rs_77503355	9 SubmittersRCV000014936 RCV000021801 RCV000413879 RCV000420281 RCV000428368 RCV000431330 RCV000441133 RCV000678747 RCV002408464
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	SNV Germline/somatic	Chr10:43114500	Pathogenic/Likely pathogenic	Pheochromocytoma Multiple endocrine neoplasia type 2A Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia type 4 Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia type 2B Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Thyroid gland carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008315	rs_75076352	22 SubmittersRCV000014938 RCV000014937 RCV000163338 RCV000082051 RCV000420446 RCV000430685 RCV000431794 RCV000420995 RCV000552504 RCV000677899 RCV003460479
NM_020975.6(RET):c.1902C>G (p.Cys634Trp)	SNV Germline/somatic	Chr10:43114502	Pathogenic	Pheochromocytoma Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia type 4 Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia type 2B Thyroid tumor Multiple endocrine neoplasia, type 2 Medullary thyroid carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA008378	rs_77709286	8 SubmittersRCV000014940 RCV000014939 RCV000405235 RCV000417418 RCV000444799 RCV000424817 RCV000432112 RCV000459040 RCV000442512 RCV001013621
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	SNV Germline/somatic	Chr10:43121968	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia type 2B Thyroid carcinoma, sporadic medullary Pheochromocytoma Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Medullary thyroid carcinoma Multiple endocrine neoplasia type 4 8 conditions Multiple endocrine neoplasia, type 1 Thyroid tumor not specified Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Hereditary cancer-predisposing syndrome RET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA009082	rs_74799832	34 SubmittersRCV000014941 RCV000014942 RCV000014943 RCV000082054 RCV000161926 RCV000175096 RCV000417859 RCV000444529 RCV000415312 RCV000425499 RCV000428538 RCV000999916 RCV001292662 RCV001542764 RCV002255998 RCV004532351
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)	SNV Germline/somatic	Chr10:43113648	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Condition: not provided Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 4 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA007985	rs_76262710	12 SubmittersRCV000014954 RCV000021792 RCV000114391 RCV000345209 RCV000434685 RCV000442341 RCV000427260 RCV000444839 RCV002256000
NM_020975.6(RET):c.2304G>C (p.Glu768Asp)	SNV Germline/somatic	Chr10:43118392	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 2 Neoplasm Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 4 Medullary thyroid carcinoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided Hepatocellular carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA008641	rs_78014899	6 SubmittersRCV000014956 RCV000021842 RCV000431893 RCV000432579 RCV000439063 RCV000421871 RCV000426010 RCV000445341 RCV001015022 RCV001811141 RCV002280861
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)	SNV Germline/somatic	Chr10:43113622	Pathogenic	MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE Condition: not provided Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Familial medullary thyroid carcinoma Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 4 Hereditary cancer-predisposing syndrome RET-related disorder Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA007824	rs_77939446	19 SubmittersRCV000014958 RCV000082049 RCV000168107 RCV000173889 RCV000441078 RCV000496009 RCV000424503 RCV000431942 RCV000509116 RCV000444552 RCV000562113 RCV004532352 RCV003460480
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)	SNV Germline/somatic	Chr10:43120144	Pathogenic	Familial medullary thyroid carcinoma Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia, type 2 Condition: not provided Multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 1 Medullary thyroid carcinoma Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified Multiple endocrine neoplasia type 2A Familial medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1 Pheochromocytoma Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia II Medullary thyroid carcinoma Hirschsprung disease, susceptibility to, 1	Criteria Provided Multiple Submitters No Conflicts	CA008989	rs_75234356	22 SubmittersRCV000014979 RCV000014978 RCV000227193 RCV000394478 RCV000431535 RCV000425892 RCV000441854 RCV000445273 RCV001016276 RCV001804732 RCV002490368 RCV003387503 RCV004566743
NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)	SNV Germline	Chr11:64810045	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009546	rs_104894256	4 SubmittersRCV000018157 RCV000182402
NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)	SNV Germline	Chr11:64807952	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA009514	rs_104894258	2 SubmittersRCV000018162
NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)	SNV Germline	Chr11:64805078	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009116	rs_104894259	5 SubmittersRCV000018166 RCV000255755 RCV004018639
NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)	SNV Germline	Chr11:64805077	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009122	rs_104894260	3 SubmittersRCV000018167 RCV000518947
NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)	SNV Germline/somatic	Chr11:64804588	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome Metastatic pancreatic neuroendocrine tumours	Criteria Provided Multiple Submitters No Conflicts	CA009219	rs_104894261	9 SubmittersRCV000018168 RCV000182423 RCV000491431 RCV000515522
NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)	SNV Germline/somatic	Chr11:64810034	Pathogenic/Likely pathogenic	Parathyroid adenoma, somatic Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009584	rs_28931612	3 SubmittersRCV000018169 RCV000490040 RCV000817082
NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)	SNV Germline	Chr11:64807557	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009615	rs_104894266	3 SubmittersRCV000018170 RCV000491298
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)	SNV Germline	Chr11:64804789	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009155	rs_104894267	10 SubmittersRCV000018172 RCV000129526 RCV000182421
NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)	SNV Germline	Chr11:64807572	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA009605	rs_104894268	3 SubmittersRCV000018176 RCV001753420
NM_001370259.2(MEN1):c.551T>A (p.Val184Glu)	SNV Germline	Chr11:64807994	Pathogenic	Multiple endocrine neoplasia, type 1	No Assertion Criteria Provided	CA009488	rs_104894262	1 SubmittersRCV000018177
NM_001370259.2(MEN1):c.415C>G (p.His139Asp)	SNV Germline	Chr11:64809695	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009410	rs_104894263	3 SubmittersRCV000018179 RCV000491226
NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)	SNV Germline	Chr11:64805132	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009084	rs_104894264	9 SubmittersRCV000018183 RCV000490854 RCV001269702
NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter)	SNV Germline	Chr11:64805758	Pathogenic	Multiple endocrine neoplasia, type 1	No Assertion Criteria Provided	CA009004	rs_104894265	1 SubmittersRCV000018185
NM_001370259.2(MEN1):c.1350+1G>A	SNV Germline	Chr11:64805033	Pathogenic	Hyperparathyroidism 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA278894	rs_863223311	3 SubmittersRCV000018187 RCV002381254 RCV003517126
NM_001370259.2(MEN1):c.824+1G>A	SNV Germline	Chr11:64807178	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Single Submitter		rs_1060499976	2 SubmittersRCV000018190 RCV002426511
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)	SNV Germline/somatic	Chr10:43113649	Pathogenic	Hereditary cancer-predisposing syndrome Medullary thyroid carcinoma Multiple endocrine neoplasia type 4 Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Multiple endocrine neoplasia, type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA008005	rs_79781594	6 SubmittersRCV000163667 RCV000423173 RCV000434317 RCV000424049 RCV000440162 RCV000429944 RCV000475953 RCV001565486
NM_020975.6(RET):c.1888T>C (p.Cys630Arg)	SNV Germline/somatic	Chr10:43114488	Pathogenic	Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2B Medullary thyroid carcinoma Multiple endocrine neoplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA008145	rs_377767404	3 SubmittersRCV000429498 RCV000418588 RCV000436253 RCV000428845 RCV000440788 RCV000654593
NM_001370259.2(MEN1):c.-20G>A	SNV Germline	Chr11:64810129	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications	CA009331	rs_386134244	6 SubmittersRCV000030190 RCV000480991 RCV002415435 RCV003914871
NM_001370259.2(MEN1):c.1049+9C>T	SNV Germline	Chr11:64806223	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified Condition: not provided Hyperparathyroidism Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA008998	rs_200517349	9 SubmittersRCV000030192 RCV000609911 RCV000679246 RCV001108572 RCV002255260
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)	SNV Germline	Chr11:64805122	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009105	rs_386134249	6 SubmittersRCV000030196 RCV000182419 RCV000491986
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)	SNV Germline	Chr11:64805088	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hyperparathyroidism not specified Hereditary cancer-predisposing syndrome Condition: not provided MEN1-related disorder	Criteria Provided Conflicting Classifications	CA009109	rs_138770431	16 SubmittersRCV000030197 RCV000353672 RCV000379404 RCV000492032 RCV000679247 RCV003891445
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)	SNV Germline	Chr11:64810109	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome not specified	Criteria Provided Multiple Submitters No Conflicts	CA009318	rs_386134250	10 SubmittersRCV000030198 RCV000480514 RCV000491918 RCV000508430
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)	SNV Germline	Chr11:64809693	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA009417	rs_386134254	1 SubmittersRCV000030202
NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)	SNV Germline	Chr11:64808042	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009447	rs_386134256	3 SubmittersRCV000030205
NM_001370259.2(MEN1):c.654+18C>T	SNV Germline	Chr11:64807873	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified	Criteria Provided Conflicting Classifications	CA009555	rs_180737290	4 SubmittersRCV000030208 RCV000606793
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)	SNV Germline	Chr11:64807577	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009595	rs_386134259	2 SubmittersRCV000030209
NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)	SNV Germline	Chr11:64806345	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009655	rs_386134260	4 SubmittersRCV000030210 RCV000082340 RCV002371793
NM_020975.6(RET):c.2410G>C (p.Val804Leu)	SNV Germline/somatic	Chr10:43119548	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 2 Multiple endocrine neoplasia type 2B Condition: not provided Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia type 2A Medullary thyroid carcinoma Multiple endocrine neoplasia type 4 Hereditary cancer-predisposing syndrome MEN2 phenotype: Unclassified	Criteria Provided Multiple Submitters No Conflicts	CA008758	rs_79658334	8 SubmittersRCV000021853 RCV000425568 RCV000479688 RCV000419916 RCV000426266 RCV000436948 RCV000437130 RCV002453279 RCV003226171
NM_001370259.2(MEN1):c.654+1G>A	SNV Germline	Chr11:64807890	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_794728622	4 SubmittersRCV000032982 RCV002362604 RCV002510773
NM_001370259.2(MEN1):c.1621= (p.Thr541=)	SNV Germline	Chr11:64804546	Conflicting classifications of pathogenicity	Condition: not provided not specified Primary hyperparathyroidism Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA009240	rs_2959656	6 SubmittersRCV000034785 RCV000082334 RCV000210359 RCV001084452
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)	SNV Germline	Chr11:64808033	Conflicting classifications of pathogenicity	Condition: not provided not specified Multiple endocrine neoplasia, type 1 Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome Hyperparathyroidism	Criteria Provided Conflicting Classifications	CA009454	rs_607969	28 SubmittersRCV000034787 RCV000082337 RCV000119143 RCV000202713 RCV000210794 RCV001106456
NM_001370259.2(MEN1):c.774G>C (p.Gln258His)	SNV Germline	Chr11:64807561	Conflicting classifications of pathogenicity	Condition: not provided Hyperparathyroidism Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009610	rs_374659656	8 SubmittersRCV000034788 RCV000379424 RCV000463800 RCV000573824
NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)	SNV Germline	Chr11:64805076	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009127	rs_398124435	5 SubmittersRCV000318762 RCV000491855 RCV000790656
NM_001370259.2(MEN1):c.655-6C>T	SNV Germline	Chr11:64807686	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hyperparathyroidism Condition: not provided not specified MEN1-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009562	rs_77461664	12 SubmittersRCV001082522 RCV001105327 RCV000679258 RCV001731368 RCV003891576 RCV002255283
NM_001370259.2(MEN1):c.912+1G>A	SNV Germline	Chr11:64807010	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009649	rs_398124437	5 SubmittersRCV000082339 RCV000491428 RCV001382549
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)	SNV Germline	Chr11:64804573	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009225	rs_587780843	6 SubmittersRCV000123383 RCV000572942
NM_001370259.2(MEN1):c.30G>T (p.Leu10=)	SNV Germline	Chr11:64810080	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided Hyperparathyroidism	Criteria Provided Conflicting Classifications	CA009365	rs_371192390	13 SubmittersRCV000123385 RCV000491878 RCV000609004 RCV000757460 RCV001108653
NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)	SNV Germline	Chr11:64807979	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA009502	rs_587780844	4 SubmittersRCV000123386 RCV001024385 RCV003153410
NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)	SNV Germline	Chr11:64807982	Conflicting classifications of pathogenicity	Hyperparathyroidism Multiple endocrine neoplasia, type 1 not specified Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications	CA009496	rs_199706698	7 SubmittersRCV000148613 RCV000200394 RCV000455592 RCV000708708 RCV003945177
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)	SNV Germline	Chr11:64808034	Conflicting classifications of pathogenicity	Hyperparathyroidism Multiple endocrine neoplasia, type 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided Ovarian cancer	Criteria Provided Conflicting Classifications	CA009448	rs_143329068	12 SubmittersRCV000148612 RCV000410523 RCV000455664 RCV000569499 RCV000766972 RCV003153432
NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)	SNV Germline	Chr11:64805722	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA009023	rs_149383809	7 SubmittersRCV000161928 RCV000567306 RCV002267897 RCV003477579
NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro)	SNV Germline	Chr11:64804600	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009213	rs_760683615	2 SubmittersRCV000168386 RCV002399596
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)	SNV Germline	Chr11:64804632	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hyperparathyroidism Hereditary cancer-predisposing syndrome Condition: not provided not specified MEN1-related disorder	Criteria Provided Conflicting Classifications	CA009193	rs_141679530	8 SubmittersRCV000168243 RCV000276552 RCV000561706 RCV001558467 RCV001818404 RCV003416048
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)	SNV Germline	Chr11:64804758	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified Hyperparathyroidism	Criteria Provided Conflicting Classifications	CA009169	rs_750112288	11 SubmittersRCV000167949 RCV000569038 RCV000602813 RCV001105233
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)	SNV Germline	Chr11:64810107	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009394	rs_786204242	7 SubmittersRCV000168423 RCV001556584 RCV002372056
NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)	SNV Germline	Chr11:64804437	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA009298	rs_794728634	3 SubmittersRCV000182428 RCV000491331 RCV001852316
NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)	SNV Germline	Chr11:64804507	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009272	rs_794728631	3 SubmittersRCV000182425 RCV000491870 RCV000542312
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)	SNV Germline	Chr11:64804549	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided Developmental regression Abnormal cerebral white matter morphology Leukodystrophy Dystonic disorder Hyperparathyroidism	Criteria Provided Conflicting Classifications	CA009233	rs_745404679	11 SubmittersRCV000231689 RCV000575915 RCV000679251 RCV000735331 RCV001103324
NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)	SNV Germline	Chr11:64804618	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009207	rs_794728630	2 SubmittersRCV000491042 RCV001852315
NM_001370259.2(MEN1):c.1351-1G>C	SNV Germline	Chr11:64804817	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA009149	rs_794728629	1 SubmittersRCV000540660
NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)	SNV Germline	Chr11:64805060	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009136	rs_794728654	3 SubmittersRCV000182456 RCV004020194 RCV000812559
NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)	SNV Germline	Chr11:64805132	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009091	rs_104894264	3 SubmittersRCV000182455 RCV001044491
NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala)	SNV Germline	Chr11:64805703	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009036	rs_794728627	3 SubmittersRCV000505726 RCV003517143 RCV002433803
NM_001370259.2(MEN1):c.784-9G>A	SNV Germline	Chr11:64807228	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009635	rs_794728625	12 SubmittersRCV000182415 RCV000205749 RCV002408796
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	SNV Germline	Chr11:64807577	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA009601	rs_386134259	6 SubmittersRCV000460727 RCV000491434 RCV002253274
NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)	SNV Germline	Chr11:64807613	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009579	rs_794728624	3 SubmittersRCV000461795 RCV000491344 RCV001812172
NM_001370259.2(MEN1):c.654+1G>T	SNV Germline	Chr11:64807890	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009560	rs_794728622	4 SubmittersRCV000182411 RCV000709159 RCV002362934
NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)	SNV Germline	Chr11:64807893	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009550	rs_794728620	7 SubmittersRCV000410087 RCV001818447 RCV002362933
NM_001370259.2(MEN1):c.643G>A (p.Val215Met)	SNV Germline	Chr11:64807902	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009535	rs_794728621	3 SubmittersRCV000230442 RCV001797061
NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)	SNV Germline	Chr11:64807951	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009518	rs_104894257	3 SubmittersRCV000632134 RCV003317132
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)	SNV Germline	Chr11:64807997	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_794728650	4 SubmittersRCV000659844 RCV003165391
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)	SNV Germline	Chr11:64808019	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA009468	rs_376872829	4 SubmittersRCV000551917 RCV000491572 RCV000505771
NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)	SNV Germline	Chr11:64808072	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA009435	rs_794728617	3 SubmittersRCV000474814 RCV003380506
NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)	SNV Germline	Chr11:64809788	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA009370	rs_794728647	3 SubmittersRCV000182446 RCV000491814 RCV000551465
NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)	SNV Germline	Chr11:64809997	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009043	rs_794728616	3 SubmittersRCV000632104 RCV000491203
NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)	SNV Germline	Chr11:64810025	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA009645	rs_794728615	2 SubmittersRCV000474533 RCV000491222
NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)	SNV Germline	Chr11:64810075	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA009390	rs_794728614	1 SubmittersRCV000538512
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)	SNV Germline	Chr11:64804403	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hyperparathyroidism Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications	CA060947	rs_373669288	4 SubmittersRCV000199306 RCV000311483 RCV000400551 RCV000566719 RCV003917813
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)	SNV Germline	Chr11:64804503	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Multiple Submitters No Conflicts	CA338972	rs_863224527	6 SubmittersRCV000199920 RCV000491766 RCV000507111
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)	SNV Germline	Chr11:64804738	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA337615	rs_863224526	8 SubmittersRCV000198067 RCV000254822 RCV000490934
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)	SNV Germline	Chr11:64804813	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA339343	rs_863224810	5 SubmittersRCV000200502 RCV000491768 RCV003736637
NM_001370259.2(MEN1):c.1351-4C>T	SNV Germline	Chr11:64804820	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hyperparathyroidism Multiple endocrine neoplasia, type 1 not specified	Criteria Provided Conflicting Classifications	CA060500	rs_764408631	8 SubmittersRCV000571993 RCV000679248 RCV001105234 RCV001083658 RCV002267931
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)	SNV Germline	Chr11:64805650	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA060100	rs_587780841	12 SubmittersRCV000199870 RCV000569118 RCV000729820 RCV001706182
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)	SNV Germline	Chr11:64807200	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA061607	rs_773500082	6 SubmittersRCV000199390 RCV001027095 RCV003148675
NM_001370259.2(MEN1):c.762G>A (p.Leu254=)	SNV Germline	Chr11:64807573	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA061523	rs_199909967	12 SubmittersRCV000196618 RCV000491869 RCV001103406 RCV001092063 RCV002271458
NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys)	SNV Germline	Chr11:64807650	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided MEN1-related disorder	Criteria Provided Conflicting Classifications	CA061444	rs_754378887	6 SubmittersRCV000196791 RCV001025738 RCV001795326 RCV003937757
NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)	SNV Germline	Chr11:64805171	Pathogenic	Multiple endocrine neoplasia, type 1 not specified Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA349734	rs_864622615	4 SubmittersRCV000205609 RCV000506315 RCV000256143 RCV002354582
NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)	SNV Germline	Chr11:64805654	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060070	rs_775267651	6 SubmittersRCV000203887 RCV001017497
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp)	SNV Germline	Chr11:64805663	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060027	rs_761360623	4 SubmittersRCV000204534 RCV000570220
NM_001370259.2(MEN1):c.655-6C>A	SNV Germline	Chr11:64807686	Conflicting classifications of pathogenicity	not specified Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA061426	rs_77461664	6 SubmittersRCV000454964 RCV000657085 RCV000988573 RCV002257506
NM_001370259.2(MEN1):c.1185+12G>A	SNV Germline	Chr11:64805623	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA060120	rs_373609932	8 SubmittersRCV000209727 RCV000608324 RCV001529469 RCV001762454
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=)	SNV Germline	Chr11:64804472	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA060897	rs_767677287	4 SubmittersRCV000564918 RCV000756336 RCV001087239
NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)	SNV Germline	Chr11:64804627	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060747	rs_150202288	2 SubmittersRCV000232118 RCV002401910
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)	SNV Germline	Chr11:64804733	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060658	rs_200280309	3 SubmittersRCV000234303 RCV000570713
NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)	SNV Germline	Chr11:64804803	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10582929	rs_878855189	2 SubmittersRCV000230771 RCV001589199
NM_001370259.2(MEN1):c.1351-1G>A	SNV Germline	Chr11:64804817	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA10582930	rs_794728629	1 SubmittersRCV000227993
NM_001370259.2(MEN1):c.819G>T (p.Leu273=)	SNV Germline	Chr11:64807184	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA061617	rs_748369241	3 SubmittersRCV000232403 RCV001027267
NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)	SNV Germline	Chr11:64807569	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10582938	rs_878855198	2 SubmittersRCV000234599 RCV001269984
NM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr)	SNV Germline	Chr11:64807581	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications	CA061503	rs_770368608	3 SubmittersRCV000228896 RCV002392720 RCV003401188
NM_001370259.2(MEN1):c.686G>A (p.Arg229His)	SNV Germline	Chr11:64807649	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA10582939	rs_878855197	5 SubmittersRCV000233998 RCV001025749 RCV002469085
NM_001370259.2(MEN1):c.655-5C>G	SNV Germline	Chr11:64807685	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA061418	rs_752563214	4 SubmittersRCV000227150 RCV002365218 RCV003226264
NM_001370259.2(MEN1):c.655-6C>G	SNV Germline	Chr11:64807686	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified Hyperparathyroidism Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications	CA061430	rs_77461664	6 SubmittersRCV000231039 RCV000604145 RCV001105328 RCV002256173 RCV003919981
NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)	SNV Germline	Chr11:64809752	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA10582945	rs_878855192	1 SubmittersRCV000232425
NM_001370259.2(MEN1):c.-22C>A	SNV Germline	Chr11:64810131	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified Condition: not provided Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications	CA061014	rs_374749001	8 SubmittersRCV000225942 RCV000454537 RCV000679245 RCV002258863 RCV003891823
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=)	SNV Germline	Chr11:64806278	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hyperparathyroidism	Criteria Provided Conflicting Classifications	CA059657	rs_371364206	6 SubmittersRCV000246806 RCV000461335 RCV000568413 RCV001108573
NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)	SNV Germline	Chr11:64805186	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10588528	rs_886039419	2 SubmittersRCV000255350 RCV001198769
NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)	SNV Germline	Chr11:64807563	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10588531	rs_886039416	3 SubmittersRCV000255776 RCV000632105
NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)	SNV Germline	Chr11:64807667	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10588532	rs_886039415	4 SubmittersRCV000255095 RCV000491535 RCV001235431
NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)	SNV Germline	Chr11:64807675	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10588533	rs_886039414	3 SubmittersRCV000256041 RCV000490921 RCV001224068
NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter)	SNV Germline	Chr11:64809689	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10588534	rs_886039553	2 SubmittersRCV000255977 RCV000632106
NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)	SNV Germline	Chr11:64809818	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588535	rs_886039413	3 SubmittersRCV000255438 RCV001244528 RCV002436089
NM_001370259.2(MEN1):c.446-2A>C	SNV Germline	Chr11:64808101	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA10603221	rs_886042035	2 SubmittersRCV000406326 RCV003233029
NM_001370259.2(MEN1):c.*470A>G	SNV Germline	Chr11:64803864	Conflicting classifications of pathogenicity	Hyperparathyroidism Multiple endocrine neoplasia, type 1 Somatotroph adenoma not specified	Criteria Provided Conflicting Classifications	CA10635265	rs_778272737	3 SubmittersRCV000302380 RCV000359433 RCV000736006 RCV002248514
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)	SNV Germline	Chr11:64810049	Conflicting classifications of pathogenicity	Hyperparathyroidism Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA061326	rs_541476418	5 SubmittersRCV000396094 RCV000563926 RCV000864930 RCV001770241
NM_001370259.2(MEN1):c.1186-10C>T	SNV Germline	Chr11:64805208	Conflicting classifications of pathogenicity	Hyperparathyroidism Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA10639643	rs_762303621	3 SubmittersRCV000264959 RCV000375854
NM_001370259.2(MEN1):c.913-1G>A	SNV Germline	Chr11:64806369	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16042860	rs_1057518572	3 SubmittersRCV000414731 RCV001018907 RCV001851002
NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)	SNV Germline	Chr11:64807662	Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16605982	rs_1057521110	2 SubmittersRCV000433003 RCV004022350
NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)	SNV Germline	Chr11:64808051	Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16605984	rs_1057521111	2 SubmittersRCV000442726 RCV000632126
NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)	SNV Germline	Chr11:64808078	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16605985	rs_794728648	3 SubmittersRCV000425558 RCV000466874 RCV000491482
NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)	SNV Germline	Chr11:64807554	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16606275	rs_1057520733	3 SubmittersRCV000419478 RCV000554384 RCV002411313
NM_001370259.2(MEN1):c.1609G>A (p.Val537Met)	SNV Germline	Chr11:64804558	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA16606963	rs_1057521847	4 SubmittersRCV000436800 RCV000491562 RCV001374124
NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)	SNV Germline	Chr11:64804645	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060724	rs_386833403	4 SubmittersRCV000455940 RCV000464409 RCV000575663
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)	SNV Germline	Chr11:64805141	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16613380	rs_1060499974	8 SubmittersRCV000486722 RCV000491295 RCV000456454
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)	SNV Germline	Chr11:64805651	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA060092	rs_761102084	7 SubmittersRCV000568225 RCV000457486 RCV000994656 RCV001821219
NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)	SNV Germline	Chr11:64806269	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA059690	rs_759337318	6 SubmittersRCV000468728 RCV001016949 RCV003231485
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)	SNV Germline	Chr11:64806312	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16613392	rs_750904332	4 SubmittersRCV000469199 RCV000492010 RCV001269821
NM_001370259.2(MEN1):c.830C>A (p.Pro277His)	SNV Germline	Chr11:64807093	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA16613405	rs_1060499973	3 SubmittersRCV000471154 RCV000568673 RCV001824785
NM_001370259.2(MEN1):c.824+1G>T	SNV Germline	Chr11:64807178	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA16613409	rs_1060499976	1 SubmittersRCV000466988
NM_001370259.2(MEN1):c.570G>A (p.Gly190=)	SNV Germline	Chr11:64807975	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 not specified Hyperparathyroidism	Criteria Provided Conflicting Classifications	CA061297	rs_547249181	5 SubmittersRCV000564641 RCV000473714 RCV001821300 RCV001105329
NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)	SNV Germline	Chr11:64809975	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16613432	rs_778670301	3 SubmittersRCV000464526 RCV001011173
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)	SNV Germline	Chr11:64804661	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications	CA060705	rs_774296730	4 SubmittersRCV000458972 RCV000566191 RCV003392264
NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)	SNV Germline	Chr11:64804755	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA16613444	rs_1060499991	1 SubmittersRCV000474300
NM_001370259.2(MEN1):c.1351-2A>G	SNV Germline	Chr11:64804818	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA16613456	rs_1060499986	1 SubmittersRCV000457794
NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp)	SNV Germline	Chr11:64807577	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA16613469	rs_386134259	1 SubmittersRCV000470590
NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)	SNV Germline	Chr11:64809764	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16613475	rs_1060499992	2 SubmittersRCV000469372 RCV002451060
NM_001370259.2(MEN1):c.267C>G (p.Leu89=)	SNV Germline	Chr11:64809843	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16613483	rs_1060499972	3 SubmittersRCV000470195 RCV002436376
NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val)	SNV Germline	Chr11:64804776	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060593	rs_778728934	3 SubmittersRCV000459240 RCV001810944 RCV002393072
NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)	SNV Germline	Chr11:64805056	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA16613613	rs_1060499981	1 SubmittersRCV000467767
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=)	SNV Germline	Chr11:64805178	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060291	rs_770037856	3 SubmittersRCV000460839 RCV001010304
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)	SNV Germline	Chr11:64805655	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hereditary cancer	Criteria Provided Conflicting Classifications	CA16613614	rs_566593066	4 SubmittersRCV000463517 RCV001017493 RCV003492046
NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)	SNV Germline	Chr11:64806272	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA16613621	rs_2071312	1 SubmittersRCV000467805
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr)	SNV Germline	Chr11:64804768	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060627	rs_779589005	4 SubmittersRCV000476178 RCV002393071
NM_001370259.2(MEN1):c.1186-6G>A	SNV Germline	Chr11:64805204	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060265	rs_576193460	4 SubmittersRCV000504111 RCV001082032 RCV002255399
NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)	SNV Germline	Chr11:64805646	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16613679	rs_772588551	3 SubmittersRCV000476658 RCV000523599 RCV002329011
NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)	SNV Germline	Chr11:64805721	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA059937	rs_758404089	5 SubmittersRCV000456726 RCV000569841 RCV001289028
NM_001370259.2(MEN1):c.753C>T (p.Thr251=)	SNV Germline	Chr11:64807582	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Hyperparathyroidism Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA061487	rs_763326062	4 SubmittersRCV000491168 RCV000828127 RCV001105326 RCV001086629
NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)	SNV Germline	Chr11:64809792	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA16613689	rs_1060499987	1 SubmittersRCV000472445
NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)	SNV Germline	Chr11:64810016	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA061878	rs_773089218	4 SubmittersRCV000463945 RCV000562829 RCV003329276
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)	SNV Germline	Chr11:64807095	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16619360	rs_1060503789	7 SubmittersRCV000484977 RCV000491793 RCV000823755
NM_001370259.2(MEN1):c.446-1G>A	SNV Germline	Chr11:64808100	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16619366	rs_1064793672	3 SubmittersRCV000487061 RCV001022519 RCV001851155
NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)	SNV Germline	Chr11:64804587	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381178349	rs_1085307502	5 SubmittersRCV000489063 RCV001039164 RCV002404280
NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg)	SNV Germline	Chr11:64808079	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381186242	rs_1085307471	2 SubmittersRCV000489416 RCV003155212
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=)	SNV Germline	Chr11:64804466	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA060907	rs_757417271	3 SubmittersRCV000491209 RCV000553378 RCV001500075
NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)	SNV Germline	Chr11:64805078	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA223912292	rs_104894259	3 SubmittersRCV000491105 RCV001390119
NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)	SNV Germline	Chr11:64805103	Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381180331	rs_1114167528	2 SubmittersRCV000491702 RCV001002226
NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)	SNV Germline	Chr11:64805643	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381182053	rs_1060499984	2 SubmittersRCV000491380 RCV001203901
NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)	SNV Germline	Chr11:64805756	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA381182908	rs_1114167474	3 SubmittersRCV000491631 RCV000761778 RCV000797646
NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)	SNV Germline	Chr11:64805767	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381182998	rs_767078097	2 SubmittersRCV000491822 RCV003517210
NM_001370259.2(MEN1):c.1049+1G>C	SNV Germline	Chr11:64806231	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381183126	rs_1114167489	3 SubmittersRCV000490962 RCV000521633 RCV003517206
NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)	SNV Germline	Chr11:64806259	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381183230	rs_1114167482	3 SubmittersRCV000491036 RCV000538522
NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)	SNV Germline	Chr11:64806322	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381183361	rs_1114167469	3 SubmittersRCV000491619 RCV003517205 RCV002473024
NM_001370259.2(MEN1):c.913-2A>G	SNV Germline	Chr11:64806370	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381183467	rs_1114167498	2 SubmittersRCV000492022 RCV000632096
NM_001370259.2(MEN1):c.912+1G>C	SNV Germline	Chr11:64807010	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381183474	rs_398124437	2 SubmittersRCV000490972 RCV000552470
NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)	SNV Germline	Chr11:64807215	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA381183996	rs_1114167502	2 SubmittersRCV000491663 RCV000811434
NM_001370259.2(MEN1):c.783+1G>A	SNV Germline/somatic	Chr11:64807551	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 Metastatic pancreatic neuroendocrine tumours not specified	Criteria Provided Multiple Submitters No Conflicts	CA381184101	rs_794728652	5 SubmittersRCV000491531 RCV000697334 RCV000515529 RCV000506752
NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)	SNV Germline	Chr11:64807638	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381184614	rs_1114167499	2 SubmittersRCV000491703 RCV003517207
NM_001370259.2(MEN1):c.446-2A>G	SNV Germline	Chr11:64808101	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381186358	rs_886042035	3 SubmittersRCV000491191 RCV002475967 RCV000696685
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)	SNV Germline	Chr11:64809680	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA381186717	rs_1114167543	3 SubmittersRCV000491902 RCV001000177
NM_001370259.2(MEN1):c.416A>G (p.His139Arg)	SNV Germline	Chr11:64809694	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381186797	rs_1114167515	2 SubmittersRCV000491708 RCV003517208
NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)	SNV Germline	Chr11:64809977	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381187857	rs_1114167491	2 SubmittersRCV000491351 RCV000696687
NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)	SNV Germline	Chr11:64810109	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381188344	rs_386134250	4 SubmittersRCV000491567 RCV000536890
NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr)	SNV Germline	Chr11:64806338	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA061863	rs_747851909	2 SubmittersRCV000494086 RCV001202722
NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)	SNV Germline	Chr11:64806342	Pathogenic	not specified Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381183406	rs_1555165128	3 SubmittersRCV000508282 RCV003517212 RCV002376942
NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)	SNV Germline	Chr11:64806312	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381183338	rs_750904332	2 SubmittersRCV000521767 RCV000632110
NM_001370259.2(MEN1):c.784-1G>C	SNV Germline	Chr11:64807220	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts	CA381184025	rs_1555165377	2 SubmittersRCV000520872 RCV000794756
NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp)	SNV Germline	Chr11:64808008	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA381185889	rs_1555165811	2 SubmittersRCV000521106 RCV001228587
NM_001370259.2(MEN1):c.1749G>C (p.Ser583=)	SNV Germline	Chr11:64804418	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA060934	rs_765105348	3 SubmittersRCV001012972 RCV001428702
NM_001370259.2(MEN1):c.597C>A (p.His199Gln)	SNV Germline	Chr11:64807948	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381185509	rs_150512958	2 SubmittersRCV000547248 RCV002358449
NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)	SNV Germline	Chr11:64805105	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381180344	rs_1555164245	2 SubmittersRCV000527282 RCV002377016
NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)	SNV Germline	Chr11:64807572	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA381184221	rs_104894268	2 SubmittersRCV000541629 RCV000757459
NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu)	SNV Germline	Chr11:64804689	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060672	rs_766604600	3 SubmittersRCV000525912 RCV001011715
NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)	SNV Germline	Chr11:64805117	Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA381180426	rs_1555164270	2 SubmittersRCV000547991 RCV002377015
NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln)	SNV Germline	Chr11:64807039	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381183538	rs_1397110438	2 SubmittersRCV000544579 RCV003343896
NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys)	SNV Germline	Chr11:64807641	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA381184625	rs_1225847249	2 SubmittersRCV000536638 RCV001025835
NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)	SNV Germline	Chr11:64807654	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381184686	rs_778921501	2 SubmittersRCV000560572 RCV001269815
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=)	SNV Germline	Chr11:64804388	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA475163001	rs_1157546350	3 SubmittersRCV000559082 RCV003362827
NM_001370259.2(MEN1):c.1640A>G (p.Glu547Gly)	SNV Germline	Chr11:64804527	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA223911789	rs_914488914	3 SubmittersRCV000529882 RCV001012531
NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)	SNV Germline	Chr11:64804632	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA381178620	rs_141679530	1 SubmittersRCV000550819
NM_001370259.2(MEN1):c.1350+2T>C	SNV Germline	Chr11:64805032	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA381180004	rs_1555164115	1 SubmittersRCV000547647
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=)	SNV Germline	Chr11:64804508	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA475163495	rs_1299138529	3 SubmittersRCV000568387 RCV002060519
NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)	SNV Germline	Chr11:64808019	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA061279	rs_376872829	6 SubmittersRCV000573513 RCV000632090 RCV002253513
NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)	SNV Germline	Chr11:64804812	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications	CA381179936	rs_775922507	2 SubmittersRCV000571203 RCV001377802
NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)	SNV Germline	Chr11:64806340	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 Hyperparathyroidism Condition: not provided	Criteria Provided Conflicting Classifications	CA061855	rs_771645621	5 SubmittersRCV000573174 RCV000632120 RCV001103402 RCV002307550
NM_001370259.2(MEN1):c.1367G>A (p.Arg456His)	SNV Germline	Chr11:64804800	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060552	rs_372468697	4 SubmittersRCV000632093 RCV003237966 RCV002385985
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)	SNV Germline	Chr11:64809879	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA381187598	rs_1555166567	4 SubmittersRCV000632123 RCV002448939 RCV002248835
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr)	SNV Germline	Chr11:64804600	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA060785	rs_760683615	4 SubmittersRCV000632113 RCV002271541 RCV002404746
NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro)	SNV Germline	Chr11:64805140	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA381180568	rs_1446518998	2 SubmittersRCV000632109 RCV003148811
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)	SNV Germline	Chr11:64805666	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA381182214	rs_1298484645	6 SubmittersRCV000632086 RCV001010012 RCV001703217
NM_001370259.2(MEN1):c.1049+1G>A	SNV Germline	Chr11:64806231	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia	Criteria Provided Multiple Submitters No Conflicts	CA381183128	rs_1114167489	4 SubmittersRCV000632121 RCV002404747 RCV003330850
NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)	SNV Germline	Chr11:64806257	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA381183224	rs_776561706	1 SubmittersRCV000632117
NM_001370259.2(MEN1):c.299C>T (p.Ala100Val)	SNV Germline	Chr11:64809811	Conflicting classifications of pathogenicity	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA223917061	rs_998337367	4 SubmittersRCV000679256 RCV000632142 RCV001017890
NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter)	SNV Germline	Chr11:64809732	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter	CA381187290	rs_1555166365	1 SubmittersRCV000632079
NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)	SNV Germline	Chr11:64805717	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1555164707	1 SubmittersRCV000659846
NM_001370259.2(MEN1):c.1049+2T>C	SNV Germline	Chr11:64806230	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1555164946	2 SubmittersRCV000659845
NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)	SNV Germline	Chr11:64804390	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1411766225	3 SubmittersRCV000697463 RCV003303155
NM_001370259.2(MEN1):c.1546C>G (p.Arg516Gly)	SNV Germline	Chr11:64804621	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_763160290	3 SubmittersRCV000695921 RCV002397421
NM_001370259.2(MEN1):c.1050-2A>T	SNV Germline	Chr11:64805772	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565642765	1 SubmittersRCV000698599
NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)	SNV Germline	Chr11:64807920	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565647767	1 SubmittersRCV000692015
NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)	SNV Germline	Chr11:64808054	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565648547	1 SubmittersRCV000702798
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)	SNV Germline	Chr11:64808079	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1085307471	5 SubmittersRCV000702784 RCV001269816 RCV002332492
NM_001370259.2(MEN1):c.458A>T (p.Asp153Val)	SNV Germline	Chr11:64808087	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565648789	1 SubmittersRCV000703817
NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln)	SNV Germline	Chr11:64804812	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_775922507	3 SubmittersRCV000698881 RCV002386229
NM_001370259.2(MEN1):c.1185+5A>G	SNV Germline	Chr11:64805630	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_748700116	2 SubmittersRCV000696574 RCV002334322
NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu)	SNV Germline	Chr11:64807072	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565645563	1 SubmittersRCV000695678
NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)	SNV Germline	Chr11:64807676	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565647197	1 SubmittersRCV000696600
NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)	SNV Germline	Chr11:64808067	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1565648656	3 SubmittersRCV000702232 RCV001269817 RCV002334355
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)	SNV Unknown	Chr11:64805703	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_794728627	1 SubmittersRCV000709158
NM_001370259.2(MEN1):c.908A>G (p.His303Arg)	SNV Germline	Chr11:64807015	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_373805140	2 SubmittersRCV000819277 RCV002372330
NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)	SNV Germline	Chr11:64807084	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications		rs_368619946	5 SubmittersRCV000797745 RCV001017703 RCV003424344
NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)	SNV Germline	Chr11:64807179	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1187634059	2 SubmittersRCV000820746 RCV002427053
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)	SNV Germline	Chr11:64807185	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1592647281	4 SubmittersRCV000804447 RCV001269820
NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)	SNV Germline	Chr11:64807208	Pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1592647398	2 SubmittersRCV000808722 RCV001269681
NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)	SNV Germline	Chr11:64807614	Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1592649108	3 SubmittersRCV000816677 RCV002293487 RCV002372308
NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter)	SNV Germline	Chr11:64808050	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1592651767	1 SubmittersRCV000793204
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)	SNV Germline	Chr11:64809922	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Hereditary cancer	Criteria Provided Conflicting Classifications		rs_1366457977	5 SubmittersRCV000820097 RCV001013466 RCV003492179
NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)	SNV Germline	Chr11:64809976	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1592660101	1 SubmittersRCV000796726
NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)	SNV Germline	Chr11:64809985	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565652689	1 SubmittersRCV000802906
NM_001370259.2(MEN1):c.446-1G>C	SNV Germline	Chr11:64808100	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1064793672	1 SubmittersRCV000820156
NM_001370259.2(MEN1):c.1351-9C>G	SNV Germline	Chr11:64804825	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1592634740	1 SubmittersRCV000801688
NM_001370259.2(MEN1):c.1050-2A>G	SNV Germline	Chr11:64805772	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565642765	1 SubmittersRCV000801108
NM_001370259.2(MEN1):c.655-1G>A	SNV Germline	Chr11:64807681	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1592649615	1 SubmittersRCV000819459
NM_001370259.2(MEN1):c.21G>A (p.Gln7=)	SNV Germline	Chr11:64810089	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1422628649	4 SubmittersRCV000864258 RCV001014748
NM_001370259.2(MEN1):c.639C>A (p.Ala213=)	SNV Germline	Chr11:64807906	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications		rs_746067825	2 SubmittersRCV001399750
NM_001370259.2(MEN1):c.903C>T (p.Leu301=)	SNV Germline	Chr11:64807020	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1592646283	3 SubmittersRCV001466277 RCV002372597
NM_001370259.2(MEN1):c.897C>T (p.Leu299=)	SNV Germline	Chr11:64807026	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 not specified	Criteria Provided Conflicting Classifications		rs_1409781409	2 SubmittersRCV000940816 RCV001818913
NM_001370259.2(MEN1):c.912G>A (p.Lys304=)	SNV Germline	Chr11:64807011	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1592646211	3 SubmittersRCV001000963 RCV001018904
NM_001370259.2(MEN1):c.783+1G>C	SNV Germline	Chr11:64807551	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_794728652	3 SubmittersRCV001000126 RCV002409331
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=)	SNV Germline	Chr11:64804589	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications		rs_767655504	3 SubmittersRCV001012250 RCV001492730
NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln)	SNV Germline	Chr11:64804780	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications		rs_748102589	2 SubmittersRCV001011215 RCV001049805
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)	SNV Germline	Chr11:64805034	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 not specified	Criteria Provided Conflicting Classifications		rs_1592636161	3 SubmittersRCV001011030 RCV001350334 RCV002236080
NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)	SNV Germline	Chr11:64809967	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications		rs_1592660057	2 SubmittersRCV001011589 RCV001860673
NM_001370259.2(MEN1):c.1351-2A>C	SNV Germline	Chr11:64804818	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1060499986	3 SubmittersRCV001011032 RCV003517291
NM_001370259.2(MEN1):c.655-1G>C	SNV Germline	Chr11:64807681	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1592649615	3 SubmittersRCV002281151 RCV001025404 RCV001862323
NM_001370259.2(MEN1):c.1703C>T (p.Thr568Ile)	SNV Germline	Chr11:64804464	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_751839903	2 SubmittersRCV001052604 RCV002400303
NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser)	SNV Germline	Chr11:64804648	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1423874145	2 SubmittersRCV001038797 RCV002391105
NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys)	SNV Germline	Chr11:64804801	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_765306552	3 SubmittersRCV001051925 RCV002379553
NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)	SNV Germline	Chr11:64805128	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1941615895	1 SubmittersRCV001036366
NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp)	SNV Germline	Chr11:64806333	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_756604268	2 SubmittersRCV001040248 RCV002445226
NM_001370259.2(MEN1):c.542A>G (p.His181Arg)	SNV Germline	Chr11:64808003	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1941861451	4 SubmittersRCV001069023 RCV001574143 RCV002348477
NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)	SNV Germline	Chr11:64809781	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1389398299	4 SubmittersRCV001049265 RCV002320278
NM_001370259.2(MEN1):c.228C>G (p.Thr76=)	SNV Germline	Chr11:64809882	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications		rs_1394017906	2 SubmittersRCV001046976
NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)	SNV Germline	Chr11:64810109	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_386134250	2 SubmittersRCV001055158 RCV003380824
NM_001370259.2(MEN1):c.654+3A>G	SNV Germline	Chr11:64807888	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1064793168	1 SubmittersRCV001061257
NM_001370259.2(MEN1):c.784-1G>A	SNV Germline	Chr11:64807220	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1555165377	1 SubmittersRCV001043139
NM_001370259.2(MEN1):c.*126C>T	SNV Germline	Chr11:64804208	Conflicting classifications of pathogenicity	Hyperparathyroidism Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_138595686	3 SubmittersRCV001108501 RCV001108502 RCV001615115
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)	SNV Germline	Chr11:64807011	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1592646211	2 SubmittersRCV001175140
NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter)	SNV Unknown	Chr11:64804645	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_386833403	1 SubmittersRCV001197197
NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp)	SNV Germline	Chr11:64808054	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565648547	1 SubmittersRCV001220086
NM_001370259.2(MEN1):c.415C>T (p.His139Tyr)	SNV Germline	Chr11:64809695	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_104894263	1 SubmittersRCV001224950
NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)	SNV Germline	Chr11:64804754	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1941556077	2 SubmittersRCV001213347 RCV002393488
NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)	SNV Germline	Chr11:64805682	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1225964479	3 SubmittersRCV001201836 RCV002322000
NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)	SNV Germline	Chr11:64807212	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1941794175	2 SubmittersRCV001211834
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)	SNV Germline	Chr11:64804519	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_562257963	4 SubmittersRCV001232905 RCV003166426
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)	SNV Germline	Chr11:64805044	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1941604532	2 SubmittersRCV001238238
NM_001370259.2(MEN1):c.57G>A (p.Val19=)	SNV Germline	Chr11:64810053	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_759282395	2 SubmittersRCV001248632 RCV002357056
NM_001370259.2(MEN1):c.1185+1G>A	SNV Germline	Chr11:64805634	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications		rs_1941661315	2 SubmittersRCV001253238
NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)	SNV Germline	Chr11:64808079	Pathogenic/Likely pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1085307471	3 SubmittersRCV001269563 RCV001880194 RCV002327616
NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter)	SNV Germline	Chr11:64810091	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1942027113	2 SubmittersRCV001269824 RCV003517321
NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)	SNV Germline	Chr11:64809986	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1942013583	2 SubmittersRCV001302220 RCV001812275
NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly)	SNV Germline	Chr11:64810021	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1942017685	2 SubmittersRCV001294396 RCV002375337
NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser)	SNV Germline	Chr11:64805699	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_755168633	2 SubmittersRCV001317315 RCV003166824
NM_001370259.2(MEN1):c.-6G>A	SNV Germline	Chr11:64810115	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Condition: not provided not specified Hereditary cancer-predisposing syndrome MEN1-related disorder	Criteria Provided Conflicting Classifications		rs_768088337	9 SubmittersRCV001334472 RCV001796447 RCV001820028 RCV002368113 RCV003938638
NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg)	SNV Germline	Chr11:64804609	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1427043628	3 SubmittersRCV001350060 RCV002404831
NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)	SNV Germline	Chr11:64809956	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1555166664	1 SubmittersRCV001340367
NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg)	SNV Germline	Chr11:64806250	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1259681826	1 SubmittersRCV001368588
NM_001370259.2(MEN1):c.645G>A (p.Val215=)	SNV Germline	Chr11:64807900	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1347044526	3 SubmittersRCV001365237 RCV002255652
NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro)	SNV Germline	Chr11:64809862	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_752747097	2 SubmittersRCV001361208 RCV003169798
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)	SNV Germline	Chr11:64807610	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136141530	2 SubmittersRCV001378938
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)	SNV Germline	Chr11:64804711	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136089217	2 SubmittersRCV001381741
NM_001370259.2(MEN1):c.1351-1G>T	SNV Germline	Chr11:64804817	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_794728629	1 SubmittersRCV001390118
NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)	SNV Germline	Chr11:64806271	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136118998	2 SubmittersRCV002319708 RCV001382548
NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter)	SNV Germline	Chr11:64806345	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_386134260	1 SubmittersRCV001382417
NM_001370259.2(MEN1):c.912+2T>G	SNV Germline	Chr11:64807009	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1555165256	1 SubmittersRCV001926059
NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter)	SNV Germline	Chr11:64807064	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_2136129231	1 SubmittersRCV001872787
NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)	SNV Germline	Chr11:64806332	Pathogenic/Likely pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2136120898	4 SubmittersRCV002031634 RCV002372824 RCV002479828
NM_001370259.2(MEN1):c.137A>C (p.His46Pro)	SNV Germline	Chr11:64809973	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_2136192730	1 SubmittersRCV001999316
NM_001370259.2(MEN1):c.913-1G>C	SNV Germline	Chr11:64806369	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1057518572	1 SubmittersRCV002000024
NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)	SNV Germline	Chr11:64807209	Pathogenic	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2136134076	2 SubmittersRCV002000025 RCV002423132
NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys)	SNV Germline	Chr11:64807996	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_2136153753	1 SubmittersRCV002037784
NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter)	SNV Germline	Chr11:64809733	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_2136181049	1 SubmittersRCV001916061
NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter)	SNV Germline	Chr11:64806300	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1592643488	1 SubmittersRCV001960715
NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)	SNV Germline	Chr11:64807673	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_2136143369	2 SubmittersRCV001896354 RCV002361181
NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter)	SNV Germline	Chr11:64806318	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1555165094	1 SubmittersRCV001996735
NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)	SNV Germline	Chr11:64808087	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_1565648789	1 SubmittersRCV001973475
NM_001370259.2(MEN1):c.1185+18C>T	SNV Germline	Chr11:64805617	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_780329058	2 SubmittersRCV002123811 RCV002337347
NM_001370259.2(MEN1):c.417C>A (p.His139Gln)	SNV Germline	Chr11:64809693	Conflicting classifications of pathogenicity	not specified Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications		rs_386134254	2 SubmittersRCV002222880 RCV003517356
NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter)	SNV Germline	Chr11:64806236	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136117686	2 SubmittersRCV002244089
NM_001370259.2(MEN1):c.1350+1G>C	SNV Germline	Chr11:64805033	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter		rs_863223311	1 SubmittersRCV002245308
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)	SNV Germline	Chr11:64810075	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV002455181 RCV003388109 RCV003517379
NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)	SNV Germline	Chr11:64810015	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV002385283 RCV003094838
NM_001370259.2(MEN1):c.1350+3G>A	SNV Germline	Chr11:64805031	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV002387929 RCV003631259
NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)	SNV Germline	Chr11:64804780	Pathogenic	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002396577 RCV003517412
NM_001370259.2(MEN1):c.1050-15C>G	SNV Germline	Chr11:64805785	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV002401254 RCV003517418
NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)	SNV Germline	Chr11:64805116	Pathogenic	Condition: not provided Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002481160 RCV002574715
NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)	SNV Germline	Chr11:64804435	Likely pathogenic	Multiple endocrine neoplasia, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003062399 RCV003481367
NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)	SNV Germline	Chr11:64805153	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003062404
NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)	SNV Germline	Chr11:64807971	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003058326
NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)	SNV Germline	Chr11:64807996	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003062405
NM_001370259.2(MEN1):c.416A>C (p.His139Pro)	SNV Germline	Chr11:64809694	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003062407
NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)	SNV Germline	Chr11:64809824	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003062410
NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)	SNV Germline	Chr11:64809977	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003058327
NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)	SNV Germline	Chr11:64810108	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003058328
NM_001370259.2(MEN1):c.655-2A>G	SNV Germline	Chr11:64807682	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003084888
NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)	SNV Germline	Chr11:64804696	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV002796919
NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)	SNV Germline	Chr11:64807185	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV002820945
NM_001370259.2(MEN1):c.445+1G>T	SNV Germline	Chr11:64809664	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002806707
NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)	SNV Germline	Chr11:64804411	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003028068
NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)	SNV Germline	Chr11:64807061	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003032284
NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)	SNV Germline	Chr11:64807084	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003047625
NM_001370259.2(MEN1):c.1050-3C>G	SNV Germline	Chr11:64805773	Conflicting classifications of pathogenicity	Condition: not provided MEN1-related disorder Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV003225588 RCV003395729 RCV003466041
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)	SNV Germline	Chr11:64809973	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003233050
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)	SNV Germline	Chr11:64809682	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003233051
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)	SNV Germline	Chr1:193122270	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003233053
NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter)	SNV Germline	Chr11:64809994	Pathogenic	Multiple endocrine neoplasia, type 1	No Assertion Criteria Provided			1 SubmittersRCV003485895
NM_001370259.2(MEN1):c.920C>A (p.Ala307Asp)	SNV Germline	Chr11:64806361	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003384140 RCV003631321
NM_001370259.2(MEN1):c.97G>C (p.Asp33His)	SNV Germline	Chr11:64810013	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003517588
NM_001370259.2(MEN1):c.445+1G>A	SNV Germline	Chr11:64809664	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003517904
NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)	SNV Germline	Chr11:64806323	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003517928
NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)	SNV Germline	Chr11:64810013	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518531
NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter)	SNV Germline	Chr11:64805120	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518507
NM_001370259.2(MEN1):c.1227C>A (p.Cys409Ter)	SNV Germline	Chr11:64805157	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518777
NM_001370259.2(MEN1):c.1150G>T (p.Glu384Ter)	SNV Germline	Chr11:64805670	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518778
NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)	SNV Germline	Chr11:64805724	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518779
NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter)	SNV Germline	Chr11:64805761	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518780
NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)	SNV Germline	Chr11:64806232	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003518781
NM_001370259.2(MEN1):c.446-3C>G	SNV Germline	Chr11:64808102	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518784
NM_001370259.2(MEN1):c.190C>T (p.Gln64Ter)	SNV Germline	Chr11:64809920	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003518787
NM_001370259.2(MEN1):c.297C>T (p.Gly99=)	SNV Germline	Chr11:64809813	Conflicting classifications of pathogenicity	Multiple endocrine neoplasia, type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003517601
NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)	SNV Germline	Chr11:64810046	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003517090
NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu)	SNV Germline	Chr11:64809688	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003631507
NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)	SNV Germline	Chr11:64804494	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003631631
NM_001370259.2(MEN1):c.983A>C (p.His328Pro)	SNV Germline	Chr11:64806298	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003631806
NM_001370259.2(MEN1):c.784-2A>T	SNV Germline	Chr11:64807221	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003632115
NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)	SNV Germline	Chr11:64809997	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003632029
NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)	SNV Germline	Chr11:64807568	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003632189
NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)	SNV Germline	Chr11:64804504	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003632218
NM_001370259.2(MEN1):c.137A>G (p.His46Arg)	SNV Germline	Chr11:64809973	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003632740
NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)	SNV Germline	Chr11:64804813	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003848823
NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)	SNV Germline	Chr11:64805152	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV003856729
NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg)	SNV Germline	Chr11:64808052	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004525812
NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)	SNV Germline	Chr11:64807901	Likely pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004547434
NM_001370259.2(MEN1):c.1350+2T>G	SNV Germline	Chr11:64805032	Pathogenic	Multiple endocrine neoplasia, type 1	Criteria Provided Single Submitter			1 SubmittersRCV004547435

NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)

SNV
Germline/somatic

Chr10:43114501

Pathogenic

Multiple endocrine neoplasia type 2A
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 4
Neoplasm
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia type 2B
Medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008348

rs_75996173

22 SubmittersRCV000014924 RCV000014925 RCV000129490 RCV000182582 RCV000432822 RCV000421191 RCV000476408 RCV000422622 RCV000425364 RCV000438527 RCV003989285

NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)

SNV
Germline/somatic

Chr10:43113655

Pathogenic

Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Condition: not provided
Medullary thyroid carcinoma
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
Aganglionic megacolon
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008076

rs_77503355

9 SubmittersRCV000014936 RCV000021801 RCV000413879 RCV000420281 RCV000428368 RCV000431330 RCV000441133 RCV000678747 RCV002408464

NM_020975.6(RET):c.1900T>C (p.Cys634Arg)

SNV
Germline/somatic

Chr10:43114500

Pathogenic/Likely pathogenic

Pheochromocytoma
Multiple endocrine neoplasia type 2A
Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia type 2B
Medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Thyroid gland carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008315

rs_75076352

22 SubmittersRCV000014938 RCV000014937 RCV000163338 RCV000082051 RCV000420446 RCV000430685 RCV000431794 RCV000420995 RCV000552504 RCV000677899 RCV003460479

NM_020975.6(RET):c.1902C>G (p.Cys634Trp)

SNV
Germline/somatic

Chr10:43114502

Pathogenic

Pheochromocytoma
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia type 2B
Thyroid tumor
Multiple endocrine neoplasia, type 2
Medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA008378

rs_77709286

8 SubmittersRCV000014940 RCV000014939 RCV000405235 RCV000417418 RCV000444799 RCV000424817 RCV000432112 RCV000459040 RCV000442512 RCV001013621

NM_020975.6(RET):c.2753T>C (p.Met918Thr)

SNV
Germline/somatic

Chr10:43121968

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia type 2B
Thyroid carcinoma, sporadic medullary
Pheochromocytoma
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 4
8 conditions
Multiple endocrine neoplasia, type 1
Thyroid tumor
not specified
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Hereditary cancer-predisposing syndrome
RET-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA009082

rs_74799832

34 SubmittersRCV000014941 RCV000014942 RCV000014943 RCV000082054 RCV000161926 RCV000175096 RCV000417859 RCV000444529 RCV000415312 RCV000425499 RCV000428538 RCV000999916 RCV001292662 RCV001542764 RCV002255998 RCV004532351

NM_020975.6(RET):c.1852T>C (p.Cys618Arg)

SNV
Germline/somatic

Chr10:43113648

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Condition: not provided
Multiple endocrine neoplasia, type 1
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA007985

rs_76262710

12 SubmittersRCV000014954 RCV000021792 RCV000114391 RCV000345209 RCV000434685 RCV000442341 RCV000427260 RCV000444839 RCV002256000

NM_020975.6(RET):c.2304G>C (p.Glu768Asp)

SNV
Germline/somatic

Chr10:43118392

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2
Neoplasm
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 4
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Hepatocellular carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA008641

rs_78014899

6 SubmittersRCV000014956 RCV000021842 RCV000431893 RCV000432579 RCV000439063 RCV000421871 RCV000426010 RCV000445341 RCV001015022 RCV001811141 RCV002280861

NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)

SNV
Germline/somatic

Chr10:43113622

Pathogenic

MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
Condition: not provided
Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia, type 1
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 4
Hereditary cancer-predisposing syndrome
RET-related disorder
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA007824

rs_77939446

19 SubmittersRCV000014958 RCV000082049 RCV000168107 RCV000173889 RCV000441078 RCV000496009 RCV000424503 RCV000431942 RCV000509116 RCV000444552 RCV000562113 RCV004532352 RCV003460480

NM_020975.6(RET):c.2671T>G (p.Ser891Ala)

SNV
Germline/somatic

Chr10:43120144

Pathogenic

Familial medullary thyroid carcinoma
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia, type 2
Condition: not provided
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 1
Medullary thyroid carcinoma
Hereditary cancer-predisposing syndrome
MEN2 phenotype: Unclassified
Multiple endocrine neoplasia type 2A
Familial medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1
Pheochromocytoma
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia II
Medullary thyroid carcinoma
Hirschsprung disease, susceptibility to, 1

Criteria Provided
Multiple Submitters
No Conflicts

CA008989

rs_75234356

22 SubmittersRCV000014979 RCV000014978 RCV000227193 RCV000394478 RCV000431535 RCV000425892 RCV000441854 RCV000445273 RCV001016276 RCV001804732 RCV002490368 RCV003387503 RCV004566743

NM_001370259.2(MEN1):c.65T>G (p.Leu22Arg)

SNV
Germline

Chr11:64810045

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009546

rs_104894256

4 SubmittersRCV000018157 RCV000182402

NM_001370259.2(MEN1):c.593G>A (p.Trp198Ter)

SNV
Germline

Chr11:64807952

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA009514

rs_104894258

2 SubmittersRCV000018162

NM_001370259.2(MEN1):c.1306T>A (p.Trp436Arg)

SNV
Germline

Chr11:64805078

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009116

rs_104894259

5 SubmittersRCV000018166 RCV000255755 RCV004018639

NM_001370259.2(MEN1):c.1307G>A (p.Trp436Ter)

SNV
Germline

Chr11:64805077

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009122

rs_104894260

3 SubmittersRCV000018167 RCV000518947

NM_001370259.2(MEN1):c.1579C>T (p.Arg527Ter)

SNV
Germline/somatic

Chr11:64804588

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Metastatic pancreatic neuroendocrine tumours

Criteria Provided
Multiple Submitters
No Conflicts

CA009219

rs_104894261

9 SubmittersRCV000018168 RCV000182423 RCV000491431 RCV000515522

NM_001370259.2(MEN1):c.76G>A (p.Glu26Lys)

SNV
Germline/somatic

Chr11:64810034

Pathogenic/Likely pathogenic

Parathyroid adenoma, somatic
Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009584

rs_28931612

3 SubmittersRCV000018169 RCV000490040 RCV000817082

NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter)

SNV
Germline

Chr11:64807557

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009615

rs_104894266

3 SubmittersRCV000018170 RCV000491298

NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)

SNV
Germline

Chr11:64804789

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009155

rs_104894267

10 SubmittersRCV000018172 RCV000129526 RCV000182421

NM_001370259.2(MEN1):c.763G>A (p.Glu255Lys)

SNV
Germline

Chr11:64807572

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009605

rs_104894268

3 SubmittersRCV000018176 RCV001753420

NM_001370259.2(MEN1):c.551T>A (p.Val184Glu)

SNV
Germline

Chr11:64807994

Pathogenic

Multiple endocrine neoplasia, type 1

No Assertion Criteria Provided

CA009488

rs_104894262

1 SubmittersRCV000018177

NM_001370259.2(MEN1):c.415C>G (p.His139Asp)

SNV
Germline

Chr11:64809695

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009410

rs_104894263

3 SubmittersRCV000018179 RCV000491226

NM_001370259.2(MEN1):c.1252G>A (p.Asp418Asn)

SNV
Germline

Chr11:64805132

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009084

rs_104894264

9 SubmittersRCV000018183 RCV000490854 RCV001269702

NM_001370259.2(MEN1):c.1062C>A (p.Cys354Ter)

SNV
Germline

Chr11:64805758

Pathogenic

Multiple endocrine neoplasia, type 1

No Assertion Criteria Provided

CA009004

rs_104894265

1 SubmittersRCV000018185

NM_001370259.2(MEN1):c.1350+1G>A

SNV
Germline

Chr11:64805033

Pathogenic

Hyperparathyroidism 1
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA278894

rs_863223311

3 SubmittersRCV000018187 RCV002381254 RCV003517126

NM_001370259.2(MEN1):c.824+1G>A

SNV
Germline

Chr11:64807178

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Single Submitter

rs_1060499976

2 SubmittersRCV000018190 RCV002426511

NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)

SNV
Germline/somatic

Chr10:43113649

Pathogenic

Hereditary cancer-predisposing syndrome
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia, type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA008005

rs_79781594

6 SubmittersRCV000163667 RCV000423173 RCV000434317 RCV000424049 RCV000440162 RCV000429944 RCV000475953 RCV001565486

NM_020975.6(RET):c.1888T>C (p.Cys630Arg)

SNV
Germline/somatic

Chr10:43114488

Pathogenic

Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia type 4
Multiple endocrine neoplasia type 2A
Multiple endocrine neoplasia type 2B
Medullary thyroid carcinoma
Multiple endocrine neoplasia, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA008145

rs_377767404

3 SubmittersRCV000429498 RCV000418588 RCV000436253 RCV000428845 RCV000440788 RCV000654593

NM_001370259.2(MEN1):c.-20G>A

SNV
Germline

Chr11:64810129

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA009331

rs_386134244

6 SubmittersRCV000030190 RCV000480991 RCV002415435 RCV003914871

NM_001370259.2(MEN1):c.1049+9C>T

SNV
Germline

Chr11:64806223

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified
Condition: not provided
Hyperparathyroidism
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA008998

rs_200517349

9 SubmittersRCV000030192 RCV000609911 RCV000679246 RCV001108572 RCV002255260

NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)

SNV
Germline

Chr11:64805122

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009105

rs_386134249

6 SubmittersRCV000030196 RCV000182419 RCV000491986

NM_001370259.2(MEN1):c.1296G>A (p.Leu432=)

SNV
Germline

Chr11:64805088

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hyperparathyroidism
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA009109

rs_138770431

16 SubmittersRCV000030197 RCV000353672 RCV000379404 RCV000492032 RCV000679247 RCV003891445

NM_001370259.2(MEN1):c.1A>G (p.Met1Val)

SNV
Germline

Chr11:64810109

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA009318

rs_386134250

10 SubmittersRCV000030198 RCV000480514 RCV000491918 RCV000508430

NM_001370259.2(MEN1):c.417C>G (p.His139Gln)

SNV
Germline

Chr11:64809693

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA009417

rs_386134254

1 SubmittersRCV000030202

NM_001370259.2(MEN1):c.503T>C (p.Leu168Pro)

SNV
Germline

Chr11:64808042

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009447

rs_386134256

3 SubmittersRCV000030205

NM_001370259.2(MEN1):c.654+18C>T

SNV
Germline

Chr11:64807873

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified

Criteria Provided
Conflicting Classifications

CA009555

rs_180737290

4 SubmittersRCV000030208 RCV000606793

NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)

SNV
Germline

Chr11:64807577

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009595

rs_386134259

2 SubmittersRCV000030209

NM_001370259.2(MEN1):c.936C>G (p.Tyr312Ter)

SNV
Germline

Chr11:64806345

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009655

rs_386134260

4 SubmittersRCV000030210 RCV000082340 RCV002371793

NM_020975.6(RET):c.2410G>C (p.Val804Leu)

SNV
Germline/somatic

Chr10:43119548

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 2
Multiple endocrine neoplasia type 2B
Condition: not provided
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia type 2A
Medullary thyroid carcinoma
Multiple endocrine neoplasia type 4
Hereditary cancer-predisposing syndrome
MEN2 phenotype: Unclassified

Criteria Provided
Multiple Submitters
No Conflicts

CA008758

rs_79658334

8 SubmittersRCV000021853 RCV000425568 RCV000479688 RCV000419916 RCV000426266 RCV000436948 RCV000437130 RCV002453279 RCV003226171

NM_001370259.2(MEN1):c.654+1G>A

SNV
Germline

Chr11:64807890

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_794728622

4 SubmittersRCV000032982 RCV002362604 RCV002510773

NM_001370259.2(MEN1):c.1621= (p.Thr541=)

SNV
Germline

Chr11:64804546

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Primary hyperparathyroidism
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA009240

rs_2959656

6 SubmittersRCV000034785 RCV000082334 RCV000210359 RCV001084452

NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)

SNV
Germline

Chr11:64808033

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Multiple endocrine neoplasia, type 1
Multiple endocrine neoplasia
Hereditary cancer-predisposing syndrome
Hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA009454

rs_607969

28 SubmittersRCV000034787 RCV000082337 RCV000119143 RCV000202713 RCV000210794 RCV001106456

NM_001370259.2(MEN1):c.774G>C (p.Gln258His)

SNV
Germline

Chr11:64807561

Conflicting classifications of pathogenicity

Condition: not provided
Hyperparathyroidism
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009610

rs_374659656

8 SubmittersRCV000034788 RCV000379424 RCV000463800 RCV000573824

NM_001370259.2(MEN1):c.1308G>T (p.Trp436Cys)

SNV
Germline

Chr11:64805076

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009127

rs_398124435

5 SubmittersRCV000318762 RCV000491855 RCV000790656

NM_001370259.2(MEN1):c.655-6C>T

SNV
Germline

Chr11:64807686

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hyperparathyroidism
Condition: not provided
not specified
MEN1-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009562

rs_77461664

12 SubmittersRCV001082522 RCV001105327 RCV000679258 RCV001731368 RCV003891576 RCV002255283

NM_001370259.2(MEN1):c.912+1G>A

SNV
Germline

Chr11:64807010

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009649

rs_398124437

5 SubmittersRCV000082339 RCV000491428 RCV001382549

NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)

SNV
Germline

Chr11:64804573

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009225

rs_587780843

6 SubmittersRCV000123383 RCV000572942

NM_001370259.2(MEN1):c.30G>T (p.Leu10=)

SNV
Germline

Chr11:64810080

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA009365

rs_371192390

13 SubmittersRCV000123385 RCV000491878 RCV000609004 RCV000757460 RCV001108653

NM_001370259.2(MEN1):c.566A>G (p.Asn189Ser)

SNV
Germline

Chr11:64807979

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009502

rs_587780844

4 SubmittersRCV000123386 RCV001024385 RCV003153410

NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu)

SNV
Germline

Chr11:64807982

Conflicting classifications of pathogenicity

Hyperparathyroidism
Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA009496

rs_199706698

7 SubmittersRCV000148613 RCV000200394 RCV000455592 RCV000708708 RCV003945177

NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)

SNV
Germline

Chr11:64808034

Conflicting classifications of pathogenicity

Hyperparathyroidism
Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA009448

rs_143329068

12 SubmittersRCV000148612 RCV000410523 RCV000455664 RCV000569499 RCV000766972 RCV003153432

NM_001370259.2(MEN1):c.1098A>T (p.Glu366Asp)

SNV
Germline

Chr11:64805722

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009023

rs_149383809

7 SubmittersRCV000161928 RCV000567306 RCV002267897 RCV003477579

NM_001370259.2(MEN1):c.1567G>C (p.Ala523Pro)

SNV
Germline

Chr11:64804600

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009213

rs_760683615

2 SubmittersRCV000168386 RCV002399596

NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu)

SNV
Germline

Chr11:64804632

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hyperparathyroidism
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA009193

rs_141679530

8 SubmittersRCV000168243 RCV000276552 RCV000561706 RCV001558467 RCV001818404 RCV003416048

NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu)

SNV
Germline

Chr11:64804758

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified
Hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA009169

rs_750112288

11 SubmittersRCV000167949 RCV000569038 RCV000602813 RCV001105233

NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)

SNV
Germline

Chr11:64810107

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009394

rs_786204242

7 SubmittersRCV000168423 RCV001556584 RCV002372056

NM_001370259.2(MEN1):c.1730T>C (p.Leu577Pro)

SNV
Germline

Chr11:64804437

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA009298

rs_794728634

3 SubmittersRCV000182428 RCV000491331 RCV001852316

NM_001370259.2(MEN1):c.1660C>T (p.Gln554Ter)

SNV
Germline

Chr11:64804507

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009272

rs_794728631

3 SubmittersRCV000182425 RCV000491870 RCV000542312

NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)

SNV
Germline

Chr11:64804549

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Developmental regression
Abnormal cerebral white matter morphology
Leukodystrophy
Dystonic disorder
Hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA009233

rs_745404679

11 SubmittersRCV000231689 RCV000575915 RCV000679251 RCV000735331 RCV001103324

NM_001370259.2(MEN1):c.1549A>T (p.Lys517Ter)

SNV
Germline

Chr11:64804618

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009207

rs_794728630

2 SubmittersRCV000491042 RCV001852315

NM_001370259.2(MEN1):c.1351-1G>C

SNV
Germline

Chr11:64804817

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA009149

rs_794728629

1 SubmittersRCV000540660

NM_001370259.2(MEN1):c.1324C>T (p.Gln442Ter)

SNV
Germline

Chr11:64805060

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009136

rs_794728654

3 SubmittersRCV000182456 RCV004020194 RCV000812559

NM_001370259.2(MEN1):c.1252G>C (p.Asp418His)

SNV
Germline

Chr11:64805132

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009091

rs_104894264

3 SubmittersRCV000182455 RCV001044491

NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala)

SNV
Germline

Chr11:64805703

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009036

rs_794728627

3 SubmittersRCV000505726 RCV003517143 RCV002433803

NM_001370259.2(MEN1):c.784-9G>A

SNV
Germline

Chr11:64807228

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009635

rs_794728625

12 SubmittersRCV000182415 RCV000205749 RCV002408796

NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)

SNV
Germline

Chr11:64807577

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA009601

rs_386134259

6 SubmittersRCV000460727 RCV000491434 RCV002253274

NM_001370259.2(MEN1):c.722G>A (p.Cys241Tyr)

SNV
Germline

Chr11:64807613

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009579

rs_794728624

3 SubmittersRCV000461795 RCV000491344 RCV001812172

NM_001370259.2(MEN1):c.654+1G>T

SNV
Germline

Chr11:64807890

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009560

rs_794728622

4 SubmittersRCV000182411 RCV000709159 RCV002362934

NM_001370259.2(MEN1):c.652C>T (p.Arg218Trp)

SNV
Germline

Chr11:64807893

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009550

rs_794728620

7 SubmittersRCV000410087 RCV001818447 RCV002362933

NM_001370259.2(MEN1):c.643G>A (p.Val215Met)

SNV
Germline

Chr11:64807902

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009535

rs_794728621

3 SubmittersRCV000230442 RCV001797061

NM_001370259.2(MEN1):c.594G>A (p.Trp198Ter)

SNV
Germline

Chr11:64807951

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009518

rs_104894257

3 SubmittersRCV000632134 RCV003317132

NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)

SNV
Germline

Chr11:64807997

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_794728650

4 SubmittersRCV000659844 RCV003165391

NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)

SNV
Germline

Chr11:64808019

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA009468

rs_376872829

4 SubmittersRCV000551917 RCV000491572 RCV000505771

NM_001370259.2(MEN1):c.473C>A (p.Ala158Asp)

SNV
Germline

Chr11:64808072

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA009435

rs_794728617

3 SubmittersRCV000474814 RCV003380506

NM_001370259.2(MEN1):c.322C>T (p.Arg108Ter)

SNV
Germline

Chr11:64809788

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA009370

rs_794728647

3 SubmittersRCV000182446 RCV000491814 RCV000551465

NM_001370259.2(MEN1):c.113C>T (p.Ser38Phe)

SNV
Germline

Chr11:64809997

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009043

rs_794728616

3 SubmittersRCV000632104 RCV000491203

NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter)

SNV
Germline

Chr11:64810025

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA009645

rs_794728615

2 SubmittersRCV000474533 RCV000491222

NM_001370259.2(MEN1):c.35C>T (p.Pro12Leu)

SNV
Germline

Chr11:64810075

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA009390

rs_794728614

1 SubmittersRCV000538512

NM_001370259.2(MEN1):c.1764G>A (p.Lys588=)

SNV
Germline

Chr11:64804403

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hyperparathyroidism
Multiple endocrine neoplasia
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA060947

rs_373669288

4 SubmittersRCV000199306 RCV000311483 RCV000400551 RCV000566719 RCV003917813

NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)

SNV
Germline

Chr11:64804503

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA338972

rs_863224527

6 SubmittersRCV000199920 RCV000491766 RCV000507111

NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)

SNV
Germline

Chr11:64804738

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA337615

rs_863224526

8 SubmittersRCV000198067 RCV000254822 RCV000490934

NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp)

SNV
Germline

Chr11:64804813

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA339343

rs_863224810

5 SubmittersRCV000200502 RCV000491768 RCV003736637

NM_001370259.2(MEN1):c.1351-4C>T

SNV
Germline

Chr11:64804820

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hyperparathyroidism
Multiple endocrine neoplasia, type 1
not specified

Criteria Provided
Conflicting Classifications

CA060500

rs_764408631

8 SubmittersRCV000571993 RCV000679248 RCV001105234 RCV001083658 RCV002267931

NM_001370259.2(MEN1):c.1170G>A (p.Pro390=)

SNV
Germline

Chr11:64805650

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA060100

rs_587780841

12 SubmittersRCV000199870 RCV000569118 RCV000729820 RCV001706182

NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)

SNV
Germline

Chr11:64807200

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061607

rs_773500082

6 SubmittersRCV000199390 RCV001027095 RCV003148675

NM_001370259.2(MEN1):c.762G>A (p.Leu254=)

SNV
Germline

Chr11:64807573

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Hyperparathyroidism
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA061523

rs_199909967

12 SubmittersRCV000196618 RCV000491869 RCV001103406 RCV001092063 RCV002271458

NM_001370259.2(MEN1):c.685C>T (p.Arg229Cys)

SNV
Germline

Chr11:64807650

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA061444

rs_754378887

6 SubmittersRCV000196791 RCV001025738 RCV001795326 RCV003937757

NM_001370259.2(MEN1):c.1213C>T (p.Gln405Ter)

SNV
Germline

Chr11:64805171

Pathogenic

Multiple endocrine neoplasia, type 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA349734

rs_864622615

4 SubmittersRCV000205609 RCV000506315 RCV000256143 RCV002354582

NM_001370259.2(MEN1):c.1166G>A (p.Arg389Gln)

SNV
Germline

Chr11:64805654

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060070

rs_775267651

6 SubmittersRCV000203887 RCV001017497

NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp)

SNV
Germline

Chr11:64805663

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060027

rs_761360623

4 SubmittersRCV000204534 RCV000570220

NM_001370259.2(MEN1):c.655-6C>A

SNV
Germline

Chr11:64807686

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA061426

rs_77461664

6 SubmittersRCV000454964 RCV000657085 RCV000988573 RCV002257506

NM_001370259.2(MEN1):c.1185+12G>A

SNV
Germline

Chr11:64805623

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA060120

rs_373609932

8 SubmittersRCV000209727 RCV000608324 RCV001529469 RCV001762454

NM_001370259.2(MEN1):c.1695G>T (p.Leu565=)

SNV
Germline

Chr11:64804472

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA060897

rs_767677287

4 SubmittersRCV000564918 RCV000756336 RCV001087239

NM_001370259.2(MEN1):c.1540C>A (p.Pro514Thr)

SNV
Germline

Chr11:64804627

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060747

rs_150202288

2 SubmittersRCV000232118 RCV002401910

NM_001370259.2(MEN1):c.1434C>T (p.Gly478=)

SNV
Germline

Chr11:64804733

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060658

rs_200280309

3 SubmittersRCV000234303 RCV000570713

NM_001370259.2(MEN1):c.1364T>A (p.Val455Glu)

SNV
Germline

Chr11:64804803

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10582929

rs_878855189

2 SubmittersRCV000230771 RCV001589199

NM_001370259.2(MEN1):c.1351-1G>A

SNV
Germline

Chr11:64804817

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA10582930

rs_794728629

1 SubmittersRCV000227993

NM_001370259.2(MEN1):c.819G>T (p.Leu273=)

SNV
Germline

Chr11:64807184

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA061617

rs_748369241

3 SubmittersRCV000232403 RCV001027267

NM_001370259.2(MEN1):c.766C>T (p.Leu256Phe)

SNV
Germline

Chr11:64807569

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10582938

rs_878855198

2 SubmittersRCV000234599 RCV001269984

NM_001370259.2(MEN1):c.754G>T (p.Asp252Tyr)

SNV
Germline

Chr11:64807581

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA061503

rs_770368608

3 SubmittersRCV000228896 RCV002392720 RCV003401188

NM_001370259.2(MEN1):c.686G>A (p.Arg229His)

SNV
Germline

Chr11:64807649

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10582939

rs_878855197

5 SubmittersRCV000233998 RCV001025749 RCV002469085

NM_001370259.2(MEN1):c.655-5C>G

SNV
Germline

Chr11:64807685

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA061418

rs_752563214

4 SubmittersRCV000227150 RCV002365218 RCV003226264

NM_001370259.2(MEN1):c.655-6C>G

SNV
Germline

Chr11:64807686

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified
Hyperparathyroidism
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA061430

rs_77461664

6 SubmittersRCV000231039 RCV000604145 RCV001105328 RCV002256173 RCV003919981

NM_001370259.2(MEN1):c.358A>T (p.Lys120Ter)

SNV
Germline

Chr11:64809752

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA10582945

rs_878855192

1 SubmittersRCV000232425

NM_001370259.2(MEN1):c.-22C>A

SNV
Germline

Chr11:64810131

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA061014

rs_374749001

8 SubmittersRCV000225942 RCV000454537 RCV000679245 RCV002258863 RCV003891823

NM_001370259.2(MEN1):c.1003C>A (p.Arg335=)

SNV
Germline

Chr11:64806278

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA059657

rs_371364206

6 SubmittersRCV000246806 RCV000461335 RCV000568413 RCV001108573

NM_001370259.2(MEN1):c.1198C>T (p.Gln400Ter)

SNV
Germline

Chr11:64805186

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588528

rs_886039419

2 SubmittersRCV000255350 RCV001198769

NM_001370259.2(MEN1):c.772C>T (p.Gln258Ter)

SNV
Germline

Chr11:64807563

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588531

rs_886039416

3 SubmittersRCV000255776 RCV000632105

NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro)

SNV
Germline

Chr11:64807667

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588532

rs_886039415

4 SubmittersRCV000255095 RCV000491535 RCV001235431

NM_001370259.2(MEN1):c.660G>A (p.Trp220Ter)

SNV
Germline

Chr11:64807675

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588533

rs_886039414

3 SubmittersRCV000256041 RCV000490921 RCV001224068

NM_001370259.2(MEN1):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr11:64809689

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10588534

rs_886039553

2 SubmittersRCV000255977 RCV000632106

NM_001370259.2(MEN1):c.292C>T (p.Arg98Ter)

SNV
Germline

Chr11:64809818

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588535

rs_886039413

3 SubmittersRCV000255438 RCV001244528 RCV002436089

NM_001370259.2(MEN1):c.446-2A>C

SNV
Germline

Chr11:64808101

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603221

rs_886042035

2 SubmittersRCV000406326 RCV003233029

NM_001370259.2(MEN1):c.*470A>G

SNV
Germline

Chr11:64803864

Conflicting classifications of pathogenicity

Hyperparathyroidism
Multiple endocrine neoplasia, type 1
Somatotroph adenoma
not specified

Criteria Provided
Conflicting Classifications

CA10635265

rs_778272737

3 SubmittersRCV000302380 RCV000359433 RCV000736006 RCV002248514

NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser)

SNV
Germline

Chr11:64810049

Conflicting classifications of pathogenicity

Hyperparathyroidism
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061326

rs_541476418

5 SubmittersRCV000396094 RCV000563926 RCV000864930 RCV001770241

NM_001370259.2(MEN1):c.1186-10C>T

SNV
Germline

Chr11:64805208

Conflicting classifications of pathogenicity

Hyperparathyroidism
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA10639643

rs_762303621

3 SubmittersRCV000264959 RCV000375854

NM_001370259.2(MEN1):c.913-1G>A

SNV
Germline

Chr11:64806369

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16042860

rs_1057518572

3 SubmittersRCV000414731 RCV001018907 RCV001851002

NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg)

SNV
Germline

Chr11:64807662

Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16605982

rs_1057521110

2 SubmittersRCV000433003 RCV004022350

NM_001370259.2(MEN1):c.494G>A (p.Cys165Tyr)

SNV
Germline

Chr11:64808051

Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16605984

rs_1057521111

2 SubmittersRCV000442726 RCV000632126

NM_001370259.2(MEN1):c.467G>A (p.Gly156Asp)

SNV
Germline

Chr11:64808078

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16605985

rs_794728648

3 SubmittersRCV000425558 RCV000466874 RCV000491482

NM_001370259.2(MEN1):c.781C>T (p.Gln261Ter)

SNV
Germline

Chr11:64807554

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16606275

rs_1057520733

3 SubmittersRCV000419478 RCV000554384 RCV002411313

NM_001370259.2(MEN1):c.1609G>A (p.Val537Met)

SNV
Germline

Chr11:64804558

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA16606963

rs_1057521847

4 SubmittersRCV000436800 RCV000491562 RCV001374124

NM_001370259.2(MEN1):c.1522C>A (p.Gln508Lys)

SNV
Germline

Chr11:64804645

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060724

rs_386833403

4 SubmittersRCV000455940 RCV000464409 RCV000575663

NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)

SNV
Germline

Chr11:64805141

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16613380

rs_1060499974

8 SubmittersRCV000486722 RCV000491295 RCV000456454

NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu)

SNV
Germline

Chr11:64805651

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA060092

rs_761102084

7 SubmittersRCV000568225 RCV000457486 RCV000994656 RCV001821219

NM_001370259.2(MEN1):c.1012C>G (p.Leu338Val)

SNV
Germline

Chr11:64806269

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059690

rs_759337318

6 SubmittersRCV000468728 RCV001016949 RCV003231485

NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)

SNV
Germline

Chr11:64806312

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16613392

rs_750904332

4 SubmittersRCV000469199 RCV000492010 RCV001269821

NM_001370259.2(MEN1):c.830C>A (p.Pro277His)

SNV
Germline

Chr11:64807093

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA16613405

rs_1060499973

3 SubmittersRCV000471154 RCV000568673 RCV001824785

NM_001370259.2(MEN1):c.824+1G>T

SNV
Germline

Chr11:64807178

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA16613409

rs_1060499976

1 SubmittersRCV000466988

NM_001370259.2(MEN1):c.570G>A (p.Gly190=)

SNV
Germline

Chr11:64807975

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
not specified
Hyperparathyroidism

Criteria Provided
Conflicting Classifications

CA061297

rs_547249181

5 SubmittersRCV000564641 RCV000473714 RCV001821300 RCV001105329

NM_001370259.2(MEN1):c.135G>C (p.Glu45Asp)

SNV
Germline

Chr11:64809975

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613432

rs_778670301

3 SubmittersRCV000464526 RCV001011173

NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn)

SNV
Germline

Chr11:64804661

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

CA060705

rs_774296730

4 SubmittersRCV000458972 RCV000566191 RCV003392264

NM_001370259.2(MEN1):c.1412G>A (p.Trp471Ter)

SNV
Germline

Chr11:64804755

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA16613444

rs_1060499991

1 SubmittersRCV000474300

NM_001370259.2(MEN1):c.1351-2A>G

SNV
Germline

Chr11:64804818

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA16613456

rs_1060499986

1 SubmittersRCV000457794

NM_001370259.2(MEN1):c.758C>G (p.Ser253Trp)

SNV
Germline

Chr11:64807577

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA16613469

rs_386134259

1 SubmittersRCV000470590

NM_001370259.2(MEN1):c.346G>T (p.Glu116Ter)

SNV
Germline

Chr11:64809764

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613475

rs_1060499992

2 SubmittersRCV000469372 RCV002451060

NM_001370259.2(MEN1):c.267C>G (p.Leu89=)

SNV
Germline

Chr11:64809843

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16613483

rs_1060499972

3 SubmittersRCV000470195 RCV002436376

NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val)

SNV
Germline

Chr11:64804776

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060593

rs_778728934

3 SubmittersRCV000459240 RCV001810944 RCV002393072

NM_001370259.2(MEN1):c.1328C>A (p.Ser443Tyr)

SNV
Germline

Chr11:64805056

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA16613613

rs_1060499981

1 SubmittersRCV000467767

NM_001370259.2(MEN1):c.1206C>T (p.Ser402=)

SNV
Germline

Chr11:64805178

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060291

rs_770037856

3 SubmittersRCV000460839 RCV001010304

NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)

SNV
Germline

Chr11:64805655

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

CA16613614

rs_566593066

4 SubmittersRCV000463517 RCV001017493 RCV003492046

NM_001370259.2(MEN1):c.1009G>C (p.Ala337Pro)

SNV
Germline

Chr11:64806272

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA16613621

rs_2071312

1 SubmittersRCV000467805

NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr)

SNV
Germline

Chr11:64804768

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060627

rs_779589005

4 SubmittersRCV000476178 RCV002393071

NM_001370259.2(MEN1):c.1186-6G>A

SNV
Germline

Chr11:64805204

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060265

rs_576193460

4 SubmittersRCV000504111 RCV001082032 RCV002255399

NM_001370259.2(MEN1):c.1174G>T (p.Glu392Ter)

SNV
Germline

Chr11:64805646

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16613679

rs_772588551

3 SubmittersRCV000476658 RCV000523599 RCV002329011

NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile)

SNV
Germline

Chr11:64805721

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA059937

rs_758404089

5 SubmittersRCV000456726 RCV000569841 RCV001289028

NM_001370259.2(MEN1):c.753C>T (p.Thr251=)

SNV
Germline

Chr11:64807582

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Hyperparathyroidism
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA061487

rs_763326062

4 SubmittersRCV000491168 RCV000828127 RCV001105326 RCV001086629

NM_001370259.2(MEN1):c.318T>A (p.Tyr106Ter)

SNV
Germline

Chr11:64809792

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA16613689

rs_1060499987

1 SubmittersRCV000472445

NM_001370259.2(MEN1):c.94C>T (p.Pro32Ser)

SNV
Germline

Chr11:64810016

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061878

rs_773089218

4 SubmittersRCV000463945 RCV000562829 RCV003329276

NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)

SNV
Germline

Chr11:64807095

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16619360

rs_1060503789

7 SubmittersRCV000484977 RCV000491793 RCV000823755

NM_001370259.2(MEN1):c.446-1G>A

SNV
Germline

Chr11:64808100

Pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16619366

rs_1064793672

3 SubmittersRCV000487061 RCV001022519 RCV001851155

NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln)

SNV
Germline

Chr11:64804587

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381178349

rs_1085307502

5 SubmittersRCV000489063 RCV001039164 RCV002404280

NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg)

SNV
Germline

Chr11:64808079

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381186242

rs_1085307471

2 SubmittersRCV000489416 RCV003155212

NM_001370259.2(MEN1):c.1701C>T (p.Ala567=)

SNV
Germline

Chr11:64804466

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA060907

rs_757417271

3 SubmittersRCV000491209 RCV000553378 RCV001500075

NM_001370259.2(MEN1):c.1306T>C (p.Trp436Arg)

SNV
Germline

Chr11:64805078

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA223912292

rs_104894259

3 SubmittersRCV000491105 RCV001390119

NM_001370259.2(MEN1):c.1281T>A (p.Ser427Arg)

SNV
Germline

Chr11:64805103

Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381180331

rs_1114167528

2 SubmittersRCV000491702 RCV001002226

NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter)

SNV
Germline

Chr11:64805643

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381182053

rs_1060499984

2 SubmittersRCV000491380 RCV001203901

NM_001370259.2(MEN1):c.1064G>A (p.Arg355Gln)

SNV
Germline

Chr11:64805756

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA381182908

rs_1114167474

3 SubmittersRCV000491631 RCV000761778 RCV000797646

NM_001370259.2(MEN1):c.1053C>G (p.Tyr351Ter)

SNV
Germline

Chr11:64805767

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381182998

rs_767078097

2 SubmittersRCV000491822 RCV003517210

NM_001370259.2(MEN1):c.1049+1G>C

SNV
Germline

Chr11:64806231

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381183126

rs_1114167489

3 SubmittersRCV000490962 RCV000521633 RCV003517206

NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter)

SNV
Germline

Chr11:64806259

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381183230

rs_1114167482

3 SubmittersRCV000491036 RCV000538522

NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu)

SNV
Germline

Chr11:64806322

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381183361

rs_1114167469

3 SubmittersRCV000491619 RCV003517205 RCV002473024

NM_001370259.2(MEN1):c.913-2A>G

SNV
Germline

Chr11:64806370

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381183467

rs_1114167498

2 SubmittersRCV000492022 RCV000632096

NM_001370259.2(MEN1):c.912+1G>C

SNV
Germline

Chr11:64807010

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381183474

rs_398124437

2 SubmittersRCV000490972 RCV000552470

NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro)

SNV
Germline

Chr11:64807215

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA381183996

rs_1114167502

2 SubmittersRCV000491663 RCV000811434

NM_001370259.2(MEN1):c.783+1G>A

SNV
Germline/somatic

Chr11:64807551

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Metastatic pancreatic neuroendocrine tumours
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA381184101

rs_794728652

5 SubmittersRCV000491531 RCV000697334 RCV000515529 RCV000506752

NM_001370259.2(MEN1):c.697A>T (p.Lys233Ter)

SNV
Germline

Chr11:64807638

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381184614

rs_1114167499

2 SubmittersRCV000491703 RCV003517207

NM_001370259.2(MEN1):c.446-2A>G

SNV
Germline

Chr11:64808101

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381186358

rs_886042035

3 SubmittersRCV000491191 RCV002475967 RCV000696685

NM_001370259.2(MEN1):c.430T>G (p.Phe144Val)

SNV
Germline

Chr11:64809680

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA381186717

rs_1114167543

3 SubmittersRCV000491902 RCV001000177

NM_001370259.2(MEN1):c.416A>G (p.His139Arg)

SNV
Germline

Chr11:64809694

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381186797

rs_1114167515

2 SubmittersRCV000491708 RCV003517208

NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys)

SNV
Germline

Chr11:64809977

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381187857

rs_1114167491

2 SubmittersRCV000491351 RCV000696687

NM_001370259.2(MEN1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr11:64810109

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381188344

rs_386134250

4 SubmittersRCV000491567 RCV000536890

NM_001370259.2(MEN1):c.943G>T (p.Asp315Tyr)

SNV
Germline

Chr11:64806338

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA061863

rs_747851909

2 SubmittersRCV000494086 RCV001202722

NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter)

SNV
Germline

Chr11:64806342

Pathogenic

not specified
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381183406

rs_1555165128

3 SubmittersRCV000508282 RCV003517212 RCV002376942

NM_001370259.2(MEN1):c.969C>G (p.Tyr323Ter)

SNV
Germline

Chr11:64806312

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381183338

rs_750904332

2 SubmittersRCV000521767 RCV000632110

NM_001370259.2(MEN1):c.784-1G>C

SNV
Germline

Chr11:64807220

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA381184025

rs_1555165377

2 SubmittersRCV000520872 RCV000794756

NM_001370259.2(MEN1):c.537G>C (p.Glu179Asp)

SNV
Germline

Chr11:64808008

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA381185889

rs_1555165811

2 SubmittersRCV000521106 RCV001228587

NM_001370259.2(MEN1):c.1749G>C (p.Ser583=)

SNV
Germline

Chr11:64804418

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA060934

rs_765105348

3 SubmittersRCV001012972 RCV001428702

NM_001370259.2(MEN1):c.597C>A (p.His199Gln)

SNV
Germline

Chr11:64807948

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381185509

rs_150512958

2 SubmittersRCV000547248 RCV002358449

NM_001370259.2(MEN1):c.1279A>C (p.Ser427Arg)

SNV
Germline

Chr11:64805105

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381180344

rs_1555164245

2 SubmittersRCV000527282 RCV002377016

NM_001370259.2(MEN1):c.763G>C (p.Glu255Gln)

SNV
Germline

Chr11:64807572

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381184221

rs_104894268

2 SubmittersRCV000541629 RCV000757459

NM_001370259.2(MEN1):c.1478C>T (p.Pro493Leu)

SNV
Germline

Chr11:64804689

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060672

rs_766604600

3 SubmittersRCV000525912 RCV001011715

NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg)

SNV
Germline

Chr11:64805117

Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA381180426

rs_1555164270

2 SubmittersRCV000547991 RCV002377015

NM_001370259.2(MEN1):c.884G>A (p.Arg295Gln)

SNV
Germline

Chr11:64807039

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381183538

rs_1397110438

2 SubmittersRCV000544579 RCV003343896

NM_001370259.2(MEN1):c.694C>T (p.Arg232Cys)

SNV
Germline

Chr11:64807641

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA381184625

rs_1225847249

2 SubmittersRCV000536638 RCV001025835

NM_001370259.2(MEN1):c.681C>A (p.Tyr227Ter)

SNV
Germline

Chr11:64807654

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381184686

rs_778921501

2 SubmittersRCV000560572 RCV001269815

NM_001370259.2(MEN1):c.1779C>T (p.Ser593=)

SNV
Germline

Chr11:64804388

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA475163001

rs_1157546350

3 SubmittersRCV000559082 RCV003362827

NM_001370259.2(MEN1):c.1640A>G (p.Glu547Gly)

SNV
Germline

Chr11:64804527

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA223911789

rs_914488914

3 SubmittersRCV000529882 RCV001012531

NM_001370259.2(MEN1):c.1535C>G (p.Ser512Ter)

SNV
Germline

Chr11:64804632

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA381178620

rs_141679530

1 SubmittersRCV000550819

NM_001370259.2(MEN1):c.1350+2T>C

SNV
Germline

Chr11:64805032

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA381180004

rs_1555164115

1 SubmittersRCV000547647

NM_001370259.2(MEN1):c.1659C>T (p.Phe553=)

SNV
Germline

Chr11:64804508

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA475163495

rs_1299138529

3 SubmittersRCV000568387 RCV002060519

NM_001370259.2(MEN1):c.526G>T (p.Ala176Ser)

SNV
Germline

Chr11:64808019

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061279

rs_376872829

6 SubmittersRCV000573513 RCV000632090 RCV002253513

NM_001370259.2(MEN1):c.1355G>C (p.Arg452Pro)

SNV
Germline

Chr11:64804812

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

CA381179936

rs_775922507

2 SubmittersRCV000571203 RCV001377802

NM_001370259.2(MEN1):c.941G>A (p.Arg314Gln)

SNV
Germline

Chr11:64806340

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Hyperparathyroidism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA061855

rs_771645621

5 SubmittersRCV000573174 RCV000632120 RCV001103402 RCV002307550

NM_001370259.2(MEN1):c.1367G>A (p.Arg456His)

SNV
Germline

Chr11:64804800

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060552

rs_372468697

4 SubmittersRCV000632093 RCV003237966 RCV002385985

NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)

SNV
Germline

Chr11:64809879

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA381187598

rs_1555166567

4 SubmittersRCV000632123 RCV002448939 RCV002248835

NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr)

SNV
Germline

Chr11:64804600

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA060785

rs_760683615

4 SubmittersRCV000632113 RCV002271541 RCV002404746

NM_001370259.2(MEN1):c.1244G>C (p.Arg415Pro)

SNV
Germline

Chr11:64805140

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381180568

rs_1446518998

2 SubmittersRCV000632109 RCV003148811

NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val)

SNV
Germline

Chr11:64805666

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA381182214

rs_1298484645

6 SubmittersRCV000632086 RCV001010012 RCV001703217

NM_001370259.2(MEN1):c.1049+1G>A

SNV
Germline

Chr11:64806231

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA381183128

rs_1114167489

4 SubmittersRCV000632121 RCV002404747 RCV003330850

NM_001370259.2(MEN1):c.1024G>C (p.Ala342Pro)

SNV
Germline

Chr11:64806257

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA381183224

rs_776561706

1 SubmittersRCV000632117

NM_001370259.2(MEN1):c.299C>T (p.Ala100Val)

SNV
Germline

Chr11:64809811

Conflicting classifications of pathogenicity

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA223917061

rs_998337367

4 SubmittersRCV000679256 RCV000632142 RCV001017890

NM_001370259.2(MEN1):c.378G>A (p.Trp126Ter)

SNV
Germline

Chr11:64809732

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

CA381187290

rs_1555166365

1 SubmittersRCV000632079

NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp)

SNV
Germline

Chr11:64805717

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1555164707

1 SubmittersRCV000659846

NM_001370259.2(MEN1):c.1049+2T>C

SNV
Germline

Chr11:64806230

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555164946

2 SubmittersRCV000659845

NM_001370259.2(MEN1):c.1777T>C (p.Ser593Pro)

SNV
Germline

Chr11:64804390

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1411766225

3 SubmittersRCV000697463 RCV003303155

NM_001370259.2(MEN1):c.1546C>G (p.Arg516Gly)

SNV
Germline

Chr11:64804621

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_763160290

3 SubmittersRCV000695921 RCV002397421

NM_001370259.2(MEN1):c.1050-2A>T

SNV
Germline

Chr11:64805772

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565642765

1 SubmittersRCV000698599

NM_001370259.2(MEN1):c.625C>T (p.Gln209Ter)

SNV
Germline

Chr11:64807920

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565647767

1 SubmittersRCV000692015

NM_001370259.2(MEN1):c.491C>T (p.Ala164Val)

SNV
Germline

Chr11:64808054

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565648547

1 SubmittersRCV000702798

NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser)

SNV
Germline

Chr11:64808079

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1085307471

5 SubmittersRCV000702784 RCV001269816 RCV002332492

NM_001370259.2(MEN1):c.458A>T (p.Asp153Val)

SNV
Germline

Chr11:64808087

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565648789

1 SubmittersRCV000703817

NM_001370259.2(MEN1):c.1355G>A (p.Arg452Gln)

SNV
Germline

Chr11:64804812

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_775922507

3 SubmittersRCV000698881 RCV002386229

NM_001370259.2(MEN1):c.1185+5A>G

SNV
Germline

Chr11:64805630

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_748700116

2 SubmittersRCV000696574 RCV002334322

NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu)

SNV
Germline

Chr11:64807072

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565645563

1 SubmittersRCV000695678

NM_001370259.2(MEN1):c.659G>A (p.Trp220Ter)

SNV
Germline

Chr11:64807676

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565647197

1 SubmittersRCV000696600

NM_001370259.2(MEN1):c.478G>C (p.Ala160Pro)

SNV
Germline

Chr11:64808067

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1565648656

3 SubmittersRCV000702232 RCV001269817 RCV002334355

NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)

SNV
Unknown

Chr11:64805703

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_794728627

1 SubmittersRCV000709158

NM_001370259.2(MEN1):c.908A>G (p.His303Arg)

SNV
Germline

Chr11:64807015

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_373805140

2 SubmittersRCV000819277 RCV002372330

NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser)

SNV
Germline

Chr11:64807084

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

rs_368619946

5 SubmittersRCV000797745 RCV001017703 RCV003424344

NM_001370259.2(MEN1):c.824G>A (p.Arg275Lys)

SNV
Germline

Chr11:64807179

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1187634059

2 SubmittersRCV000820746 RCV002427053

NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)

SNV
Germline

Chr11:64807185

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1592647281

4 SubmittersRCV000804447 RCV001269820

NM_001370259.2(MEN1):c.795G>A (p.Trp265Ter)

SNV
Germline

Chr11:64807208

Pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592647398

2 SubmittersRCV000808722 RCV001269681

NM_001370259.2(MEN1):c.721T>C (p.Cys241Arg)

SNV
Germline

Chr11:64807614

Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592649108

3 SubmittersRCV000816677 RCV002293487 RCV002372308

NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter)

SNV
Germline

Chr11:64808050

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1592651767

1 SubmittersRCV000793204

NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)

SNV
Germline

Chr11:64809922

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Hereditary cancer

Criteria Provided
Conflicting Classifications

rs_1366457977

5 SubmittersRCV000820097 RCV001013466 RCV003492179

NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly)

SNV
Germline

Chr11:64809976

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1592660101

1 SubmittersRCV000796726

NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala)

SNV
Germline

Chr11:64809985

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565652689

1 SubmittersRCV000802906

NM_001370259.2(MEN1):c.446-1G>C

SNV
Germline

Chr11:64808100

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1064793672

1 SubmittersRCV000820156

NM_001370259.2(MEN1):c.1351-9C>G

SNV
Germline

Chr11:64804825

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1592634740

1 SubmittersRCV000801688

NM_001370259.2(MEN1):c.1050-2A>G

SNV
Germline

Chr11:64805772

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565642765

1 SubmittersRCV000801108

NM_001370259.2(MEN1):c.655-1G>A

SNV
Germline

Chr11:64807681

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1592649615

1 SubmittersRCV000819459

NM_001370259.2(MEN1):c.21G>A (p.Gln7=)

SNV
Germline

Chr11:64810089

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1422628649

4 SubmittersRCV000864258 RCV001014748

NM_001370259.2(MEN1):c.639C>A (p.Ala213=)

SNV
Germline

Chr11:64807906

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

rs_746067825

2 SubmittersRCV001399750

NM_001370259.2(MEN1):c.903C>T (p.Leu301=)

SNV
Germline

Chr11:64807020

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1592646283

3 SubmittersRCV001466277 RCV002372597

NM_001370259.2(MEN1):c.897C>T (p.Leu299=)

SNV
Germline

Chr11:64807026

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
not specified

Criteria Provided
Conflicting Classifications

rs_1409781409

2 SubmittersRCV000940816 RCV001818913

NM_001370259.2(MEN1):c.912G>A (p.Lys304=)

SNV
Germline

Chr11:64807011

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1592646211

3 SubmittersRCV001000963 RCV001018904

NM_001370259.2(MEN1):c.783+1G>C

SNV
Germline

Chr11:64807551

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_794728652

3 SubmittersRCV001000126 RCV002409331

NM_001370259.2(MEN1):c.1578C>T (p.Ala526=)

SNV
Germline

Chr11:64804589

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

rs_767655504

3 SubmittersRCV001012250 RCV001492730

NM_001370259.2(MEN1):c.1387G>C (p.Glu463Gln)

SNV
Germline

Chr11:64804780

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

rs_748102589

2 SubmittersRCV001011215 RCV001049805

NM_001370259.2(MEN1):c.1350G>C (p.Gln450His)

SNV
Germline

Chr11:64805034

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
not specified

Criteria Provided
Conflicting Classifications

rs_1592636161

3 SubmittersRCV001011030 RCV001350334 RCV002236080

NM_001370259.2(MEN1):c.143T>C (p.Leu48Pro)

SNV
Germline

Chr11:64809967

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

rs_1592660057

2 SubmittersRCV001011589 RCV001860673

NM_001370259.2(MEN1):c.1351-2A>C

SNV
Germline

Chr11:64804818

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060499986

3 SubmittersRCV001011032 RCV003517291

NM_001370259.2(MEN1):c.655-1G>C

SNV
Germline

Chr11:64807681

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592649615

3 SubmittersRCV002281151 RCV001025404 RCV001862323

NM_001370259.2(MEN1):c.1703C>T (p.Thr568Ile)

SNV
Germline

Chr11:64804464

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_751839903

2 SubmittersRCV001052604 RCV002400303

NM_001370259.2(MEN1):c.1519G>A (p.Gly507Ser)

SNV
Germline

Chr11:64804648

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1423874145

2 SubmittersRCV001038797 RCV002391105

NM_001370259.2(MEN1):c.1366C>T (p.Arg456Cys)

SNV
Germline

Chr11:64804801

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_765306552

3 SubmittersRCV001051925 RCV002379553

NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val)

SNV
Germline

Chr11:64805128

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1941615895

1 SubmittersRCV001036366

NM_001370259.2(MEN1):c.948A>T (p.Glu316Asp)

SNV
Germline

Chr11:64806333

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_756604268

2 SubmittersRCV001040248 RCV002445226

NM_001370259.2(MEN1):c.542A>G (p.His181Arg)

SNV
Germline

Chr11:64808003

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1941861451

4 SubmittersRCV001069023 RCV001574143 RCV002348477

NM_001370259.2(MEN1):c.329G>A (p.Gly110Glu)

SNV
Germline

Chr11:64809781

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1389398299

4 SubmittersRCV001049265 RCV002320278

NM_001370259.2(MEN1):c.228C>G (p.Thr76=)

SNV
Germline

Chr11:64809882

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

rs_1394017906

2 SubmittersRCV001046976

NM_001370259.2(MEN1):c.1A>C (p.Met1Leu)

SNV
Germline

Chr11:64810109

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_386134250

2 SubmittersRCV001055158 RCV003380824

NM_001370259.2(MEN1):c.654+3A>G

SNV
Germline

Chr11:64807888

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1064793168

1 SubmittersRCV001061257

NM_001370259.2(MEN1):c.784-1G>A

SNV
Germline

Chr11:64807220

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1555165377

1 SubmittersRCV001043139

NM_001370259.2(MEN1):c.*126C>T

SNV
Germline

Chr11:64804208

Conflicting classifications of pathogenicity

Hyperparathyroidism
Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_138595686

3 SubmittersRCV001108501 RCV001108502 RCV001615115

NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn)

SNV
Germline

Chr11:64807011

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1592646211

2 SubmittersRCV001175140

NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter)

SNV
Unknown

Chr11:64804645

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_386833403

1 SubmittersRCV001197197

NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp)

SNV
Germline

Chr11:64808054

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565648547

1 SubmittersRCV001220086

NM_001370259.2(MEN1):c.415C>T (p.His139Tyr)

SNV
Germline

Chr11:64809695

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_104894263

1 SubmittersRCV001224950

NM_001370259.2(MEN1):c.1413G>A (p.Trp471Ter)

SNV
Germline

Chr11:64804754

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1941556077

2 SubmittersRCV001213347 RCV002393488

NM_001370259.2(MEN1):c.1138G>A (p.Ala380Thr)

SNV
Germline

Chr11:64805682

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1225964479

3 SubmittersRCV001201836 RCV002322000

NM_001370259.2(MEN1):c.791T>C (p.Leu264Pro)

SNV
Germline

Chr11:64807212

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1941794175

2 SubmittersRCV001211834

NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu)

SNV
Germline

Chr11:64804519

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_562257963

4 SubmittersRCV001232905 RCV003166426

NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)

SNV
Germline

Chr11:64805044

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1941604532

2 SubmittersRCV001238238

NM_001370259.2(MEN1):c.57G>A (p.Val19=)

SNV
Germline

Chr11:64810053

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_759282395

2 SubmittersRCV001248632 RCV002357056

NM_001370259.2(MEN1):c.1185+1G>A

SNV
Germline

Chr11:64805634

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

rs_1941661315

2 SubmittersRCV001253238

NM_001370259.2(MEN1):c.466G>T (p.Gly156Cys)

SNV
Germline

Chr11:64808079

Pathogenic/Likely pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1085307471

3 SubmittersRCV001269563 RCV001880194 RCV002327616

NM_001370259.2(MEN1):c.19C>T (p.Gln7Ter)

SNV
Germline

Chr11:64810091

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1942027113

2 SubmittersRCV001269824 RCV003517321

NM_001370259.2(MEN1):c.124G>A (p.Gly42Ser)

SNV
Germline

Chr11:64809986

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1942013583

2 SubmittersRCV001302220 RCV001812275

NM_001370259.2(MEN1):c.89A>G (p.Glu30Gly)

SNV
Germline

Chr11:64810021

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1942017685

2 SubmittersRCV001294396 RCV002375337

NM_001370259.2(MEN1):c.1121A>G (p.Asn374Ser)

SNV
Germline

Chr11:64805699

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_755168633

2 SubmittersRCV001317315 RCV003166824

NM_001370259.2(MEN1):c.-6G>A

SNV
Germline

Chr11:64810115

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
MEN1-related disorder

Criteria Provided
Conflicting Classifications

rs_768088337

9 SubmittersRCV001334472 RCV001796447 RCV001820028 RCV002368113 RCV003938638

NM_001370259.2(MEN1):c.1558G>A (p.Gly520Arg)

SNV
Germline

Chr11:64804609

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1427043628

3 SubmittersRCV001350060 RCV002404831

NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly)

SNV
Germline

Chr11:64809956

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1555166664

1 SubmittersRCV001340367

NM_001370259.2(MEN1):c.1031C>G (p.Thr344Arg)

SNV
Germline

Chr11:64806250

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1259681826

1 SubmittersRCV001368588

NM_001370259.2(MEN1):c.645G>A (p.Val215=)

SNV
Germline

Chr11:64807900

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1347044526

3 SubmittersRCV001365237 RCV002255652

NM_001370259.2(MEN1):c.248T>C (p.Leu83Pro)

SNV
Germline

Chr11:64809862

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_752747097

2 SubmittersRCV001361208 RCV003169798

NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)

SNV
Germline

Chr11:64807610

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136141530

2 SubmittersRCV001378938

NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)

SNV
Germline

Chr11:64804711

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136089217

2 SubmittersRCV001381741

NM_001370259.2(MEN1):c.1351-1G>T

SNV
Germline

Chr11:64804817

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_794728629

1 SubmittersRCV001390118

NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp)

SNV
Germline

Chr11:64806271

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136118998

2 SubmittersRCV002319708 RCV001382548

NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter)

SNV
Germline

Chr11:64806345

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_386134260

1 SubmittersRCV001382417

NM_001370259.2(MEN1):c.912+2T>G

SNV
Germline

Chr11:64807009

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1555165256

1 SubmittersRCV001926059

NM_001370259.2(MEN1):c.859G>T (p.Glu287Ter)

SNV
Germline

Chr11:64807064

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_2136129231

1 SubmittersRCV001872787

NM_001370259.2(MEN1):c.949C>T (p.His317Tyr)

SNV
Germline

Chr11:64806332

Pathogenic/Likely pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136120898

4 SubmittersRCV002031634 RCV002372824 RCV002479828

NM_001370259.2(MEN1):c.137A>C (p.His46Pro)

SNV
Germline

Chr11:64809973

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_2136192730

1 SubmittersRCV001999316

NM_001370259.2(MEN1):c.913-1G>C

SNV
Germline

Chr11:64806369

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1057518572

1 SubmittersRCV002000024

NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter)

SNV
Germline

Chr11:64807209

Pathogenic

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136134076

2 SubmittersRCV002000025 RCV002423132

NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys)

SNV
Germline

Chr11:64807996

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_2136153753

1 SubmittersRCV002037784

NM_001370259.2(MEN1):c.377G>A (p.Trp126Ter)

SNV
Germline

Chr11:64809733

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_2136181049

1 SubmittersRCV001916061

NM_001370259.2(MEN1):c.981C>G (p.Tyr327Ter)

SNV
Germline

Chr11:64806300

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1592643488

1 SubmittersRCV001960715

NM_001370259.2(MEN1):c.662T>C (p.Leu221Pro)

SNV
Germline

Chr11:64807673

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_2136143369

2 SubmittersRCV001896354 RCV002361181

NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter)

SNV
Germline

Chr11:64806318

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1555165094

1 SubmittersRCV001996735

NM_001370259.2(MEN1):c.458A>C (p.Asp153Ala)

SNV
Germline

Chr11:64808087

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_1565648789

1 SubmittersRCV001973475

NM_001370259.2(MEN1):c.1185+18C>T

SNV
Germline

Chr11:64805617

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_780329058

2 SubmittersRCV002123811 RCV002337347

NM_001370259.2(MEN1):c.417C>A (p.His139Gln)

SNV
Germline

Chr11:64809693

Conflicting classifications of pathogenicity

not specified
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

rs_386134254

2 SubmittersRCV002222880 RCV003517356

NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter)

SNV
Germline

Chr11:64806236

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136117686

2 SubmittersRCV002244089

NM_001370259.2(MEN1):c.1350+1G>C

SNV
Germline

Chr11:64805033

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

rs_863223311

1 SubmittersRCV002245308

NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)

SNV
Germline

Chr11:64810075

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002455181 RCV003388109 RCV003517379

NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg)

SNV
Germline

Chr11:64810015

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002385283 RCV003094838

NM_001370259.2(MEN1):c.1350+3G>A

SNV
Germline

Chr11:64805031

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002387929 RCV003631259

NM_001370259.2(MEN1):c.1387G>T (p.Glu463Ter)

SNV
Germline

Chr11:64804780

Pathogenic

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002396577 RCV003517412

NM_001370259.2(MEN1):c.1050-15C>G

SNV
Germline

Chr11:64805785

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002401254 RCV003517418

NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter)

SNV
Germline

Chr11:64805116

Pathogenic

Condition: not provided
Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002481160 RCV002574715

NM_001370259.2(MEN1):c.1732C>T (p.Gln578Ter)

SNV
Germline

Chr11:64804435

Likely pathogenic

Multiple endocrine neoplasia, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062399 RCV003481367

NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro)

SNV
Germline

Chr11:64805153

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003062404

NM_001370259.2(MEN1):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr11:64807971

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003058326

NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter)

SNV
Germline

Chr11:64807996

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003062405

NM_001370259.2(MEN1):c.416A>C (p.His139Pro)

SNV
Germline

Chr11:64809694

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003062407

NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr11:64809824

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003062410

NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln)

SNV
Germline

Chr11:64809977

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003058327

NM_001370259.2(MEN1):c.2T>A (p.Met1Lys)

SNV
Germline

Chr11:64810108

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003058328

NM_001370259.2(MEN1):c.655-2A>G

SNV
Germline

Chr11:64807682

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003084888

NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter)

SNV
Germline

Chr11:64804696

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002796919

NM_001370259.2(MEN1):c.818T>G (p.Leu273Arg)

SNV
Germline

Chr11:64807185

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002820945

NM_001370259.2(MEN1):c.445+1G>T

SNV
Germline

Chr11:64809664

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002806707

NM_001370259.2(MEN1):c.1756C>T (p.Gln586Ter)

SNV
Germline

Chr11:64804411

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003028068

NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter)

SNV
Germline

Chr11:64807061

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003032284

NM_001370259.2(MEN1):c.839T>A (p.Leu280Ter)

SNV
Germline

Chr11:64807084

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003047625

NM_001370259.2(MEN1):c.1050-3C>G

SNV
Germline

Chr11:64805773

Conflicting classifications of pathogenicity

Condition: not provided
MEN1-related disorder
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003225588 RCV003395729 RCV003466041

NM_001370259.2(MEN1):c.137A>T (p.His46Leu)

SNV
Germline

Chr11:64809973

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003233050

NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)

SNV
Germline

Chr11:64809682

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003233051

NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)

SNV
Germline

Chr1:193122270

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003233053

NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter)

SNV
Germline

Chr11:64809994

Pathogenic

Multiple endocrine neoplasia, type 1

No Assertion Criteria Provided

1 SubmittersRCV003485895

NM_001370259.2(MEN1):c.920C>A (p.Ala307Asp)

SNV
Germline

Chr11:64806361

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003384140 RCV003631321

NM_001370259.2(MEN1):c.97G>C (p.Asp33His)

SNV
Germline

Chr11:64810013

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003517588

NM_001370259.2(MEN1):c.445+1G>A

SNV
Germline

Chr11:64809664

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003517904

NM_001370259.2(MEN1):c.958C>A (p.Pro320Thr)

SNV
Germline

Chr11:64806323

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003517928

NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr)

SNV
Germline

Chr11:64810013

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518531

NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter)

SNV
Germline

Chr11:64805120

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518507

NM_001370259.2(MEN1):c.1227C>A (p.Cys409Ter)

SNV
Germline

Chr11:64805157

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518777

NM_001370259.2(MEN1):c.1150G>T (p.Glu384Ter)

SNV
Germline

Chr11:64805670

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518778

NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter)

SNV
Germline

Chr11:64805724

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518779

NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter)

SNV
Germline

Chr11:64805761

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518780

NM_001370259.2(MEN1):c.1049A>T (p.Asp350Val)

SNV
Germline

Chr11:64806232

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003518781

NM_001370259.2(MEN1):c.446-3C>G

SNV
Germline

Chr11:64808102

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518784

NM_001370259.2(MEN1):c.190C>T (p.Gln64Ter)

SNV
Germline

Chr11:64809920

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003518787

NM_001370259.2(MEN1):c.297C>T (p.Gly99=)

SNV
Germline

Chr11:64809813

Conflicting classifications of pathogenicity

Multiple endocrine neoplasia, type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003517601

NM_001370259.2(MEN1):c.64C>A (p.Leu22Met)

SNV
Germline

Chr11:64810046

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003517090

NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu)

SNV
Germline

Chr11:64809688

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003631507

NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr)

SNV
Germline

Chr11:64804494

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003631631

NM_001370259.2(MEN1):c.983A>C (p.His328Pro)

SNV
Germline

Chr11:64806298

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003631806

NM_001370259.2(MEN1):c.784-2A>T

SNV
Germline

Chr11:64807221

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003632115

NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr)

SNV
Germline

Chr11:64809997

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003632029

NM_001370259.2(MEN1):c.767T>C (p.Leu256Pro)

SNV
Germline

Chr11:64807568

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003632189

NM_001370259.2(MEN1):c.1663A>G (p.Ser555Gly)

SNV
Germline

Chr11:64804504

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003632218

NM_001370259.2(MEN1):c.137A>G (p.His46Arg)

SNV
Germline

Chr11:64809973

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003632740

NM_001370259.2(MEN1):c.1354C>G (p.Arg452Gly)

SNV
Germline

Chr11:64804813

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003848823

NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val)

SNV
Germline

Chr11:64805152

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003856729

NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg)

SNV
Germline

Chr11:64808052

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004525812

NM_001370259.2(MEN1):c.644T>A (p.Val215Glu)

SNV
Germline

Chr11:64807901

Likely pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004547434

NM_001370259.2(MEN1):c.1350+2T>G

SNV
Germline

Chr11:64805032

Pathogenic

Multiple endocrine neoplasia, type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004547435