Total 660 pathogenic variants reported for Multiple endocrine neoplasia, type 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
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

5 SubmittersRCV000018157RCV000182402

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 Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA009116 rs_104894259

6 SubmittersRCV004018639RCV000018166RCV000255755

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 SubmittersRCV000018167RCV000518947

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
Neuroendocrine pancreatic tumor
Criteria Provided
Multiple Submitters
No Conflicts
CA009219 rs_104894261

12 SubmittersRCV000018168RCV000182423RCV000491431RCV004813043

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 SubmittersRCV000018169RCV000490040RCV000817082

NM_001370259.2(MEN1):c.778C>T (p.Gln260Ter) SNV
Germline
Chr11:64807557 Pathogenic MEN1-related disorder
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA009615 rs_104894266

5 SubmittersRCV004748527RCV000018170RCV000491298RCV004998100

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

11 SubmittersRCV000018172RCV000129526RCV000182421

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 SubmittersRCV000018176RCV001753420

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
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA009410 rs_104894263

4 SubmittersRCV000018179RCV000491226RCV004998101

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

11 SubmittersRCV000018183RCV000490854RCV001269702

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 Multiple endocrine neoplasia, type 1
Hyperparathyroidism 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA278894 rs_863223311

3 SubmittersRCV003517126RCV000018187RCV002381254

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
CA381183853 rs_1060499976

2 SubmittersRCV000018190RCV002426511

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

11 SubmittersRCV000030192RCV000609911RCV000679246RCV001108572RCV002255260

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 SubmittersRCV000030196RCV000182419RCV000491986

NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) SNV
Germline
Chr11:64805088 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
not specified
Hyperparathyroidism
Hereditary cancer-predisposing syndrome
Condition: not provided
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA009109 rs_138770431

17 SubmittersRCV000030197RCV000379404RCV000353672RCV000492032RCV000679247RCV003891445

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

11 SubmittersRCV000030198RCV000480514RCV000491918RCV000508430

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.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 Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA009655 rs_386134260

4 SubmittersRCV000082340RCV000030210RCV002371793

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
CA381185286 rs_794728622

4 SubmittersRCV000032982RCV002362604RCV002510773

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
rs_2959656

6 SubmittersRCV000034785RCV000082334RCV000210359RCV001084452

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

29 SubmittersRCV000034787RCV000082337RCV000119143RCV000202713RCV000210794RCV001106456

NM_001370259.2(MEN1):c.774G>C (p.Gln258His) SNV
Germline
Chr11:64807561 Conflicting classifications of pathogenicity Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Hyperparathyroidism
not specified
Criteria Provided
Conflicting Classifications
CA009610 rs_374659656

12 SubmittersRCV000034788RCV000463800RCV000573824RCV000379424RCV004700303

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 SubmittersRCV000318762RCV000491855RCV000790656

NM_001370259.2(MEN1):c.655-6C>T SNV
Germline
Chr11:64807686 Conflicting classifications of pathogenicity Condition: not provided
Multiple endocrine neoplasia, type 1
Hyperparathyroidism
Hereditary cancer-predisposing syndrome
MEN1-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA009562 rs_77461664

14 SubmittersRCV000679258RCV001082522RCV001105327RCV002255283RCV003891576RCV001731368

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

6 SubmittersRCV000082339RCV000491428RCV001382549

NM_001370259.2(MEN1):c.1465C>T (p.Pro489Ser) SNV
Germline
Chr11:64804702 Conflicting classifications of pathogenicity not specified
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA009174 rs_587778440

6 SubmittersRCV000121335RCV000695300RCV002390271RCV004998240

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
Condition: not provided
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA009225 rs_587780843

9 SubmittersRCV000123383RCV000572942RCV004589612RCV004748592

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

14 SubmittersRCV000123385RCV000491878RCV000609004RCV000757460RCV001108653

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 SubmittersRCV000123386RCV001024385RCV003153410

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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA009496 rs_199706698

10 SubmittersRCV000148613RCV000200394RCV000455592RCV000708708RCV003945177RCV005003490

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
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA009448 rs_143329068

13 SubmittersRCV000148612RCV000410523RCV000455664RCV000569499RCV000766972RCV003153432RCV004748599

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
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA009023 rs_149383809

9 SubmittersRCV000161928RCV000567306RCV003477579RCV002267897

NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) SNV
Germline
Chr11:64804530 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA009249 rs_779413959

4 SubmittersRCV000167886RCV002399594

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
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA009213 rs_760683615

4 SubmittersRCV000168386RCV002399596RCV004748613

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
not specified
MEN1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA009193 rs_141679530

9 SubmittersRCV000168243RCV000276552RCV000561706RCV001818404RCV003416048RCV001558467

NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) SNV
Germline
Chr11:64804758 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome
Hyperparathyroidism
Criteria Provided
Conflicting Classifications
CA009169 rs_750112288

11 SubmittersRCV000167949RCV000602813RCV000569038RCV001105233

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 SubmittersRCV000168423RCV001556584RCV002372056

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 SubmittersRCV000182428RCV000491331RCV001852316

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 SubmittersRCV000182425RCV000491870RCV000542312

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
Hyperparathyroidism
Hereditary cancer
not specified
Criteria Provided
Conflicting Classifications
CA009233 rs_745404679

11 SubmittersRCV000231689RCV000575915RCV000679251RCV001103324RCV005235088RCV004998389

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 SubmittersRCV000491042RCV001852315

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
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA009136 rs_794728654

3 SubmittersRCV000182456RCV000812559RCV004020194

NM_001370259.2(MEN1):c.1252G>C (p.Asp418His) SNV
Germline
Chr11:64805132 Pathogenic/Likely pathogenic Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA009091 rs_104894264

4 SubmittersRCV000182455RCV001044491RCV005365106

NM_001370259.2(MEN1):c.1117C>G (p.Pro373Ala) SNV
Germline
Chr11:64805703 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA009036 rs_794728627

3 SubmittersRCV000505726RCV002433803RCV003517143

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

15 SubmittersRCV000182415RCV000205749RCV002408796

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

8 SubmittersRCV000460727RCV000491434RCV002253274

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 SubmittersRCV000461795RCV000491344RCV001812172

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 SubmittersRCV000182411RCV000709159RCV002362934

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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA009550 rs_794728620

11 SubmittersRCV000410087RCV001818447RCV002362933RCV005241318

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 SubmittersRCV000230442RCV001797061

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 SubmittersRCV000632134RCV003317132

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
CA009485 rs_794728650

4 SubmittersRCV000659844RCV003165391

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 SubmittersRCV000551917RCV000491572RCV000505771

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 SubmittersRCV000474814RCV003380506

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 SubmittersRCV000182446RCV000491814RCV000551465

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 SubmittersRCV000632104RCV000491203

NM_001370259.2(MEN1):c.85C>T (p.Arg29Ter) SNV
Germline
Chr11:64810025 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA009645 rs_794728615

2 SubmittersRCV000491222RCV000474533

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
Multiple endocrine neoplasia
Hyperparathyroidism
Hereditary cancer-predisposing syndrome
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA060947 rs_373669288

5 SubmittersRCV000199306RCV000400551RCV000311483RCV000566719RCV003917813

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
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA338972 rs_863224527

7 SubmittersRCV000199920RCV000491766RCV000507111RCV004998404

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 SubmittersRCV000198067RCV000254822RCV000490934

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
Hereditary breast ovarian cancer syndrome
Criteria Provided
Conflicting Classifications
CA339343 rs_863224810

7 SubmittersRCV000200502RCV000491768RCV003736637RCV004689673

NM_001370259.2(MEN1):c.1351-4C>T SNV
Germline
Chr11:64804820 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 1
not specified
Hyperparathyroidism
Criteria Provided
Conflicting Classifications
CA060500 rs_764408631

9 SubmittersRCV000571993RCV000679248RCV001083658RCV002267931RCV001105234

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 SubmittersRCV000199390RCV001027095RCV003148675

NM_001370259.2(MEN1):c.762G>A (p.Leu254=) SNV
Germline
Chr11:64807573 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Hyperparathyroidism
not specified
Criteria Provided
Conflicting Classifications
CA061523 rs_199909967

13 SubmittersRCV000196618RCV001092063RCV000491869RCV001103406RCV002271458

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 SubmittersRCV000196791RCV001025738RCV001795326RCV003937757

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 SubmittersRCV000205609RCV000506315RCV000256143RCV002354582

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 SubmittersRCV000203887RCV001017497

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 SubmittersRCV000204534RCV000570220

NM_001370259.2(MEN1):c.655-6C>A SNV
Germline
Chr11:64807686 Conflicting classifications of pathogenicity Condition: not provided
Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA061426 rs_77461664

9 SubmittersRCV000657085RCV000988573RCV000454964RCV002257506

NM_001370259.2(MEN1):c.640G>A (p.Gly214Ser) SNV
Germline
Chr11:64807905 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA061345 rs_781493730

5 SubmittersRCV000205360RCV001025237RCV003237765

NM_001370259.2(MEN1):c.1185+12G>A SNV
Germline
Chr11:64805623 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA060120 rs_373609932

8 SubmittersRCV000209727RCV000608324RCV001762454RCV001529469

NM_001370259.2(MEN1):c.1695G>T (p.Leu565=) SNV
Germline
Chr11:64804472 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA060897 rs_767677287

5 SubmittersRCV000564918RCV001087239RCV000756336

NM_001370259.2(MEN1):c.1541C>G (p.Pro514Arg) SNV
Germline
Chr11:64804626 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA060761 rs_753022747

4 SubmittersRCV000233918RCV000561798

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
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA060747 rs_150202288

4 SubmittersRCV000232118RCV002401910RCV004760465RCV005230170

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

4 SubmittersRCV000234303RCV000570713

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 SubmittersRCV000230771RCV001589199

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

4 SubmittersRCV000232403RCV001027267

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 SubmittersRCV000234599RCV001269984

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 SubmittersRCV000228896RCV002392720RCV003401188

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

6 SubmittersRCV000233998RCV001025749RCV002469085

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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA061418 rs_752563214

5 SubmittersRCV000227150RCV002365218RCV003226264RCV004725119

NM_001370259.2(MEN1):c.655-6C>G SNV
Germline
Chr11:64807686 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
not specified
Hyperparathyroidism
MEN1-related disorder
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA061430 rs_77461664

6 SubmittersRCV000231039RCV000604145RCV001105328RCV003919981RCV002256173

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

10 SubmittersRCV000225942RCV000454537RCV000679245RCV002258863RCV003891823

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

7 SubmittersRCV000246806RCV000461335RCV000568413RCV001108573

NM_001370259.2(MEN1):c.60G>C (p.Val20=) SNV
Germline
Chr11:64810050 Conflicting classifications of pathogenicity not specified
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10587133 rs_776432516

5 SubmittersRCV000244620RCV000470194RCV002356342RCV004812314

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

3 SubmittersRCV000255350RCV001198769

NM_001370259.2(MEN1):c.1192C>T (p.Gln398Ter) SNV
Germline
Chr11:64805192 Pathogenic Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10588529 rs_886039418

3 SubmittersRCV000254812RCV005090296RCV004943827

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 SubmittersRCV000255776RCV000632105

NM_001370259.2(MEN1):c.668T>C (p.Leu223Pro) SNV
Germline
Chr11:64807667 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA10588532 rs_886039415

6 SubmittersRCV000255095RCV000491535RCV001235431

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 SubmittersRCV000256041RCV000490921RCV001224068

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 SubmittersRCV000255977RCV000632106

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 SubmittersRCV000255438RCV001244528RCV002436089

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

3 SubmittersRCV000406326RCV003233029

NM_001370259.2(MEN1):c.*470A>G SNV
Germline
Chr11:64803864 Conflicting classifications of pathogenicity Hyperparathyroidism
Multiple endocrine neoplasia, type 1
not specified
Somatotroph adenoma
Criteria Provided
Conflicting Classifications
CA10635265 rs_778272737

5 SubmittersRCV000302380RCV000359433RCV002248514RCV000736006

NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) SNV
Germline
Chr11:64810049 Conflicting classifications of pathogenicity Hyperparathyroidism
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA061326 rs_541476418

7 SubmittersRCV000396094RCV000864930RCV000563926RCV001770241RCV004586674

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

4 SubmittersRCV000264959RCV000375854

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

5 SubmittersRCV000414731RCV001018907RCV001851002

NM_001370259.2(MEN1):c.673G>A (p.Gly225Arg) SNV
Germline
Chr11:64807662 Likely pathogenic Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16605982 rs_1057521110

4 SubmittersRCV000433003RCV004022350RCV004943833

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 SubmittersRCV000442726RCV000632126

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 SubmittersRCV000425558RCV000466874RCV000491482

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

4 SubmittersRCV000419478RCV000554384RCV002411313

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 SubmittersRCV000436800RCV000491562RCV001374124

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 SubmittersRCV000455940RCV000464409RCV000575663

NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter) SNV
Germline
Chr11:64805141 Pathogenic Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16613380 rs_1060499974

12 SubmittersRCV000456454RCV000486722RCV000491295

NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) SNV
Germline
Chr11:64805651 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA060092 rs_761102084

7 SubmittersRCV000457486RCV000568225RCV000994656RCV001821219

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

7 SubmittersRCV000468728RCV001016949RCV003231485

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 SubmittersRCV000469199RCV000492010RCV001269821

NM_001370259.2(MEN1):c.830C>A (p.Pro277His) SNV
Germline
Chr11:64807093 Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA16613405 rs_1060499973

4 SubmittersRCV000471154RCV000568673RCV005230367

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

6 SubmittersRCV000564641RCV000473714RCV001821300RCV001105329

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 SubmittersRCV000464526RCV001011173

NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro) SNV
Germline
Chr11:64804651 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA16613440 rs_1060499994

5 SubmittersRCV000476839RCV001011879RCV001284274RCV004748764

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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA060705 rs_774296730

6 SubmittersRCV000458972RCV000566191RCV003392264RCV004696198

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 SubmittersRCV000469372RCV002451060

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

4 SubmittersRCV000470195RCV002436376

NM_001370259.2(MEN1):c.1391C>T (p.Ala464Val) SNV
Germline
Chr11:64804776 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA060593 rs_778728934

4 SubmittersRCV000459240RCV002393072RCV001810944

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.1165C>T (p.Arg389Trp) SNV
Germline
Chr11:64805655 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Hereditary cancer
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16613614 rs_566593066

5 SubmittersRCV000463517RCV001017493RCV003492046RCV004722756

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.883C>T (p.Arg295Trp) SNV
Germline
Chr11:64807040 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA16613627 rs_1046929915

4 SubmittersRCV000470592RCV000491071RCV003392263

NM_001370259.2(MEN1):c.710C>T (p.Ala237Val) SNV
Germline
Chr11:64807625 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA061467 rs_760289964

3 SubmittersRCV000465273RCV001026052

NM_001370259.2(MEN1):c.352G>A (p.Val118Met) SNV
Germline
Chr11:64809758 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA16613633 rs_1060499975

3 SubmittersRCV000472854RCV002339107RCV003899901

NM_001370259.2(MEN1):c.1564G>C (p.Val522Leu) SNV
Germline
Chr11:64804603 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16613661 rs_1060499983

2 SubmittersRCV000462233RCV001012142

NM_001370259.2(MEN1):c.1481C>T (p.Pro494Leu) SNV
Germline
Chr11:64804686 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16613663 rs_1060499993

3 SubmittersRCV000469797RCV002393073

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 SubmittersRCV000476178RCV002393071

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

5 SubmittersRCV000504111RCV001082032RCV002255399

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 SubmittersRCV000476658RCV000523599RCV002329011

NM_001370259.2(MEN1):c.1099G>A (p.Val367Ile) SNV
Germline
Chr11:64805721 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA059937 rs_758404089

6 SubmittersRCV000456726RCV001289028RCV000569841RCV005239014

NM_001370259.2(MEN1):c.784-10C>T SNV
Germline
Chr11:64807229 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA061567 rs_71526470

5 SubmittersRCV000475847RCV003387850RCV004722801

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

5 SubmittersRCV000491168RCV000828127RCV001105326RCV001086629

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

6 SubmittersRCV000463945RCV000562829RCV003329276

NM_001370259.2(MEN1):c.92A>T (p.Glu31Val) SNV
Germline
Chr11:64810018 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16613698 rs_1060499977

4 SubmittersRCV000458419RCV001019129RCV004772908

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 SubmittersRCV000484977RCV000491793RCV000823755

NM_001370259.2(MEN1):c.535G>A (p.Glu179Lys) SNV
Germline
Chr11:64808010 Pathogenic/Likely pathogenic Condition: not provided
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA16619365 rs_1064793167

2 SubmittersRCV000483982RCV005090925

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 SubmittersRCV000487061RCV001022519RCV001851155

NM_001370259.2(MEN1):c.1580G>A (p.Arg527Gln) SNV
Germline
Chr11:64804587 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381178349 rs_1085307502

5 SubmittersRCV001039164RCV002404280RCV000489063

NM_001370259.2(MEN1):c.466G>C (p.Gly156Arg) 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
CA381186242 rs_1085307471

3 SubmittersRCV000489416RCV003155212RCV005372328

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

4 SubmittersRCV000491209RCV000553378RCV001500075

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 SubmittersRCV000491105RCV001390119

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 SubmittersRCV000491702RCV001002226

NM_001370259.2(MEN1):c.1177C>T (p.Gln393Ter) SNV
Germline
Chr11:64805643 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381182053 rs_1060499984

2 SubmittersRCV001203901RCV000491380

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 SubmittersRCV000491822RCV003517210

NM_001370259.2(MEN1):c.1049+1G>C SNV
Germline
Chr11:64806231 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381183126 rs_1114167489

3 SubmittersRCV000490962RCV003517206RCV000521633

NM_001370259.2(MEN1):c.1022G>A (p.Trp341Ter) SNV
Germline
Chr11:64806259 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381183230 rs_1114167482

4 SubmittersRCV000491036RCV000538522RCV004722828

NM_001370259.2(MEN1):c.959C>T (p.Pro320Leu) SNV
Germline
Chr11:64806322 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381183361 rs_1114167469

3 SubmittersRCV002473024RCV000491619RCV003517205

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 SubmittersRCV000492022RCV000632096

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 SubmittersRCV000490972RCV000552470

NM_001370259.2(MEN1):c.788T>C (p.Leu263Pro) SNV
Germline
Chr11:64807215 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381183996 rs_1114167502

2 SubmittersRCV000811434RCV000491663

NM_001370259.2(MEN1):c.783+1G>A SNV
Germline/somatic
Chr11:64807551 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Neuroendocrine pancreatic tumor
not specified
Criteria Provided
Multiple Submitters
No Conflicts
CA381184101 rs_794728652

5 SubmittersRCV000697334RCV000491531RCV004813104RCV000506752

NM_001370259.2(MEN1):c.703G>A (p.Glu235Lys) SNV
Germline
Chr11:64807632 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA381184581 rs_1114167488

2 SubmittersRCV000491739RCV005091013

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 SubmittersRCV000491703RCV003517207

NM_001370259.2(MEN1):c.446-2A>G SNV
Germline
Chr11:64808101 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381186358 rs_886042035

3 SubmittersRCV000491191RCV000696685RCV002475967

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 SubmittersRCV000491902RCV001000177

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 SubmittersRCV000491708RCV003517208

NM_001370259.2(MEN1):c.133G>A (p.Glu45Lys) SNV
Germline
Chr11:64809977 Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381187857 rs_1114167491

3 SubmittersRCV000696687RCV000491351

NM_001370259.2(MEN1):c.1A>T (p.Met1Leu) SNV
Germline
Chr11:64810109 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381188344 rs_386134250

5 SubmittersRCV000491567RCV004999528RCV000536890

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 SubmittersRCV000494086RCV001202722

NM_001370259.2(MEN1):c.939T>G (p.Tyr313Ter) SNV
Germline
Chr11:64806342 Pathogenic not specified
MEN1-related disorder
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381183406 rs_1555165128

4 SubmittersRCV000508282RCV004722849RCV003517212RCV002376942

NM_001370259.2(MEN1):c.*412G>A SNV
Germline
Chr11:64803922 Likely pathogenic Somatotroph adenoma
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA223911371 rs_972128957

2 SubmittersRCV000736007RCV005367363

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 SubmittersRCV000521767RCV000632110

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 SubmittersRCV000520872RCV000794756

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 SubmittersRCV000521106RCV001228587

NM_001370259.2(MEN1):c.189C>G (p.Phe63Leu) SNV
Germline
Chr11:64809921 Conflicting classifications of pathogenicity Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
not specified
MEN1-related disorder
Criteria Provided
Conflicting Classifications
CA060980 rs_137880635

7 SubmittersRCV000523092RCV000559995RCV001013550RCV001821464RCV003942716

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 SubmittersRCV001012972RCV001428702

NM_001370259.2(MEN1):c.1416C>T (p.Gly472=) SNV
Germline
Chr11:64804751 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA060641 rs_764509990

5 SubmittersRCV000557060RCV000567684RCV005000127

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 SubmittersRCV000547248RCV002358449

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 SubmittersRCV000527282RCV002377016

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 SubmittersRCV000541629RCV000757459

NM_001370259.2(MEN1):c.246C>G (p.Asp82Glu) SNV
Germline
Chr11:64809864 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381187564 rs_1238113583

2 SubmittersRCV000557501RCV002431542

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 SubmittersRCV000525912RCV001011715

NM_001370259.2(MEN1):c.1267T>C (p.Trp423Arg) SNV
Germline
Chr11:64805117 Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381180426 rs_1555164270

2 SubmittersRCV000547991RCV002377015

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 SubmittersRCV000544579RCV003343896

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 SubmittersRCV000560572RCV001269815

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

4 SubmittersRCV000559082RCV003362827

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 SubmittersRCV000529882RCV001012531

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.869A>C (p.Glu290Ala) SNV
Germline
Chr11:64807054 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381183566 rs_1213891703

5 SubmittersRCV000532389RCV001821504RCV002377017

NM_001370259.2(MEN1):c.856C>T (p.Leu286=) SNV
Germline
Chr11:64807067 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA061722 rs_542321016

5 SubmittersRCV000556338RCV000574622RCV004767335

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

4 SubmittersRCV000568387RCV002060519

NM_001370259.2(MEN1):c.16G>T (p.Ala6Ser) SNV
Germline
Chr11:64810094 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA223917347 rs_966793401

4 SubmittersRCV000565141RCV000632111

NM_001370259.2(MEN1):c.1123C>G (p.Leu375Val) SNV
Germline
Chr11:64805697 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA381182444 rs_1211957325

3 SubmittersRCV000575830RCV000632112

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 SubmittersRCV000573513RCV000632090RCV002253513

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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381179936 rs_775922507

3 SubmittersRCV000571203RCV001377802RCV005004255

NM_001370259.2(MEN1):c.989G>A (p.Arg330His) SNV
Germline
Chr11:64806292 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA061906 rs_373135175

4 SubmittersRCV000573622RCV000632116RCV003332206

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 SubmittersRCV000573174RCV000632120RCV001103402RCV002307550

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

5 SubmittersRCV000632093RCV003237966RCV002385985

NM_001370259.2(MEN1):c.1207G>A (p.Ala403Thr) SNV
Germline
Chr11:64805177 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA060300 rs_746135199

2 SubmittersRCV000632136RCV002343215

NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp) SNV
Germline
Chr11:64805757 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381182913 rs_863224807

3 SubmittersRCV000632081RCV001009797

NM_001370259.2(MEN1):c.963C>T (p.Tyr321=) SNV
Germline
Chr11:64806318 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA474983347 rs_1555165094

4 SubmittersRCV000632177RCV001019580RCV005000403

NM_001370259.2(MEN1):c.71C>T (p.Ala24Val) SNV
Germline
Chr11:64810039 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381188076 rs_1328062930

3 SubmittersRCV000632091RCV002377360

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

5 SubmittersRCV000632123RCV002448939RCV002248835

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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA060785 rs_760683615

6 SubmittersRCV000632113RCV002271541RCV002404746RCV005601056

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 SubmittersRCV000632109RCV003148811

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

7 SubmittersRCV000632086RCV001010012RCV001703217

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 SubmittersRCV000632121RCV002404747RCV003330850

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 Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223917061 rs_998337367

4 SubmittersRCV000632142RCV001017890RCV000679256

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.177C>T (p.Pro59=) SNV
Germline
Chr11:64809933 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA475163890 rs_749001511

2 SubmittersRCV000632118RCV004944029

NM_001370259.2(MEN1):c.1103C>A (p.Ala368Asp) SNV
Germline
Chr11:64805717 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381182610 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
CA381183120 rs_1555164946

2 SubmittersRCV000659845

NM_001370259.2(MEN1):c.1540C>T (p.Pro514Ser) SNV
Germline
Chr11:64804627 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA060754 rs_150202288

3 SubmittersRCV000687699RCV002397376RCV005250090

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
CA381177338 rs_1411766225

3 SubmittersRCV000697463RCV003303155

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
CA060769 rs_763160290

3 SubmittersRCV000695921RCV002397421

NM_001370259.2(MEN1):c.1050-2A>T SNV
Germline
Chr11:64805772 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381183033 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
CA381185382 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
CA381186117 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
CA381186245 rs_1085307471

5 SubmittersRCV000702784RCV001269816RCV002332492

NM_001370259.2(MEN1):c.458A>T (p.Asp153Val) SNV
Germline
Chr11:64808087 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381186284 rs_1565648789

1 SubmittersRCV000703817

NM_001370259.2(MEN1):c.38T>G (p.Leu13Arg) SNV
Germline
Chr11:64810072 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381188210 rs_1262285748

2 SubmittersRCV000694774RCV005367511

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
CA060528 rs_775922507

3 SubmittersRCV000698881RCV002386229

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
CA060185 rs_748700116

2 SubmittersRCV000696574RCV002334322

NM_001370259.2(MEN1):c.851C>A (p.Ala284Glu) SNV
Germline
Chr11:64807072 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381183654 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
CA381185232 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
CA381186185 rs_1565648656

3 SubmittersRCV000702232RCV001269817RCV002334355

NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser) SNV
Unknown
Chr11:64805703 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381182487 rs_794728627

1 SubmittersRCV000709158

NM_001370259.2(MEN1):c.923C>A (p.Ser308Ter) SNV
Germline
Chr11:64806358 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381183442 rs_1565644366

3 SubmittersRCV000757458RCV002370009RCV004689872

NM_001370259.2(MEN1):c.1492C>G (p.Pro498Ala) SNV
Germline
Chr11:64804675 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA060692 rs_771842369

3 SubmittersRCV000794008RCV002388425

NM_001370259.2(MEN1):c.1166G>C (p.Arg389Pro) SNV
Germline
Chr11:64805654 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381182115 rs_775267651

3 SubmittersRCV000800804RCV001017498

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
CA061762 rs_373805140

4 SubmittersRCV000819277RCV002372330

NM_001370259.2(MEN1):c.839T>C (p.Leu280Ser) SNV
Germline
Chr11:64807084 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
MEN1-related disorder
Condition: not provided
Criteria Provided
Conflicting Classifications
CA061706 rs_368619946

6 SubmittersRCV001017703RCV000797745RCV003424344RCV004768657

NM_001370259.2(MEN1):c.833T>G (p.Met278Arg) SNV
Germline
Chr11:64807090 Likely pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381183750 rs_1592646765

3 SubmittersRCV000810806RCV004028709RCV004792507

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
CA381183860 rs_1187634059

2 SubmittersRCV000820746RCV002427053

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
CA16044440 rs_1592647281

4 SubmittersRCV000804447RCV001269820

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
CA381183963 rs_1592647398

2 SubmittersRCV000808722RCV001269681

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
CA381184471 rs_1592649108

4 SubmittersRCV000816677RCV002293487RCV002372308

NM_001370259.2(MEN1):c.495C>A (p.Cys165Ter) SNV
Germline
Chr11:64808050 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381186105 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
CA381187687 rs_1366457977

5 SubmittersRCV000820097RCV001013466RCV003492179

NM_001370259.2(MEN1):c.134A>G (p.Glu45Gly) SNV
Germline
Chr11:64809976 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381187854 rs_1592660101

2 SubmittersRCV000796726RCV004944156

NM_001370259.2(MEN1):c.125G>C (p.Gly42Ala) SNV
Germline
Chr11:64809985 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187883 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
CA381186353 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
CA915948602 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
CA381183036 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
CA381185255 rs_1592649615

1 SubmittersRCV000819459

NM_001370259.2(MEN1):c.21G>A (p.Gln7=) SNV
Germline
Chr11:64810089 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA475163350 rs_1422628649

5 SubmittersRCV001014748RCV000864258

NM_001370259.2(MEN1):c.228C>T (p.Thr76=) SNV
Germline
Chr11:64809882 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA475163793 rs_1394017906

4 SubmittersRCV001423824RCV002445006RCV004768739

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
CA475162834 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
CA474983536 rs_1592646283

3 SubmittersRCV001466277RCV002372597

NM_001370259.2(MEN1):c.897C>T (p.Leu299=) SNV
Germline
Chr11:64807026 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA474983551 rs_1409781409

4 SubmittersRCV000940816RCV001818913RCV004629389

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
CA474983529 rs_1592646211

3 SubmittersRCV001000963RCV001018904

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
CA381184103 rs_794728652

3 SubmittersRCV001000126RCV002409331

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
CA223911908 rs_767655504

4 SubmittersRCV001012250RCV001492730

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
CA060588 rs_748102589

2 SubmittersRCV001011215RCV001049805

NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) SNV
Germline
Chr11:64805034 Likely pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381180010 rs_1592636161

3 SubmittersRCV001011030RCV001350334

NM_001370259.2(MEN1):c.1192C>G (p.Gln398Glu) SNV
Germline
Chr11:64805192 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA381180801 rs_886039418

3 SubmittersRCV001010268RCV001342349

NM_001370259.2(MEN1):c.1015C>T (p.Gln339Ter) SNV
Germline
Chr11:64806266 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381183245 rs_1592643178

2 SubmittersRCV001017005RCV005093151

NM_001370259.2(MEN1):c.740T>C (p.Ile247Thr) SNV
Germline
Chr11:64807595 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223915383 rs_1043531053

4 SubmittersRCV001053547RCV001026403RCV003238272

NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp) SNV
Germline
Chr11:64807972 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA381185667 rs_1592651018

2 SubmittersRCV001024469RCV001862290

NM_001370259.2(MEN1):c.526G>A (p.Ala176Thr) SNV
Germline
Chr11:64808019 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381185958 rs_376872829

6 SubmittersRCV001060544RCV001023830RCV003319433

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
CA381187811 rs_1592660057

2 SubmittersRCV001011589RCV001860673

NM_001370259.2(MEN1):c.63C>T (p.Arg21=) SNV
Germline
Chr11:64810047 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223917250 rs_1018289242

4 SubmittersRCV001471473RCV001025224RCV004998571

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
CA381179956 rs_1060499986

3 SubmittersRCV001011032RCV003517291

NM_001370259.2(MEN1):c.655-1G>C SNV
Germline
Chr11:64807681 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381185254 rs_1592649615

5 SubmittersRCV001025404RCV001862323RCV002281151

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
CA060914 rs_751839903

2 SubmittersRCV001052604RCV002400303

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
CA381178716 rs_1423874145

2 SubmittersRCV001038797RCV002391105

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
CA060546 rs_765306552

3 SubmittersRCV001051925RCV002379553

NM_001370259.2(MEN1):c.1256G>T (p.Gly419Val) SNV
Germline
Chr11:64805128 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381180484 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
CA061874 rs_756604268

2 SubmittersRCV001040248RCV002445226

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
CA381185855 rs_1941861451

4 SubmittersRCV001069023RCV001574143RCV002348477

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
CA381187395 rs_1389398299

4 SubmittersRCV001049265RCV002320278

NM_001370259.2(MEN1):c.228C>G (p.Thr76=) SNV
Germline
Chr11:64809882 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA475163794 rs_1394017906

4 SubmittersRCV001046976RCV004639440

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
CA381188345 rs_386134250

2 SubmittersRCV001055158RCV003380824

NM_001370259.2(MEN1):c.654+3A>G SNV
Germline
Chr11:64807888 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA645583350 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
CA381184027 rs_1555165377

1 SubmittersRCV001043139

NM_001370259.2(MEN1):c.*126C>T SNV
Germline
Chr11:64804208 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hyperparathyroidism
Condition: not provided
Criteria Provided
Conflicting Classifications
CA223911541 rs_138595686

3 SubmittersRCV001108502RCV001108501RCV001615115

NM_001370259.2(MEN1):c.849G>T (p.Leu283=) SNV
Germline
Chr11:64807074 Conflicting classifications of pathogenicity Hyperparathyroidism
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA474983598 rs_1592646641

2 SubmittersRCV001103404RCV001103403

NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn) SNV
Germline
Chr11:64807011 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1 Criteria Provided
Conflicting Classifications
CA381183476 rs_1592646211

3 SubmittersRCV001175140

NM_001370259.2(MEN1):c.1522C>T (p.Gln508Ter) SNV
Unknown
Chr11:64804645 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381178699 rs_386833403

1 SubmittersRCV001197197

NM_001370259.2(MEN1):c.491C>A (p.Ala164Asp) SNV
Germline
Chr11:64808054 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381186121 rs_1565648547

2 SubmittersRCV001220086RCV004944896

NM_001370259.2(MEN1):c.415C>T (p.His139Tyr) SNV
Germline
Chr11:64809695 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381186801 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
CA381179518 rs_1941556077

2 SubmittersRCV001213347RCV002393488

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
CA381182357 rs_1225964479

3 SubmittersRCV001201836RCV002322000

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
CA381183983 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
CA060885 rs_562257963

4 SubmittersRCV001232905RCV003166426

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
CA381180069 rs_1941604532

2 SubmittersRCV001238238

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
CA381181987 rs_1941661315

2 SubmittersRCV001253238

NM_001370259.2(MEN1):c.1183C>T (p.Gln395Ter) SNV
Germline
Chr11:64805637 Pathogenic Condition: not provided
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381182005 rs_1941661404

2 SubmittersRCV001269859RCV005094287

NM_001370259.2(MEN1):c.959C>G (p.Pro320Arg) SNV
Germline
Chr11:64806322 Conflicting classifications of pathogenicity Condition: not provided
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA381183362 rs_1114167469

2 SubmittersRCV001269633RCV004807493

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
CA381186247 rs_1085307471

3 SubmittersRCV001269563RCV001880194RCV002327616

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
CA381188292 rs_1942027113

3 SubmittersRCV001269824RCV003517321

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
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381187890 rs_1942013583

3 SubmittersRCV001302220RCV001812275RCV005372624

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
CA059976 rs_755168633

2 SubmittersRCV001317315RCV003166824

NM_001370259.2(MEN1):c.567T>A (p.Asn189Lys) SNV
Germline
Chr11:64807978 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381185700 rs_1212919060

2 SubmittersRCV001315304RCV005601746

NM_001370259.2(MEN1):c.422A>G (p.Gln141Arg) SNV
Germline
Chr11:64809688 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA061129 rs_758846538

1 SubmittersRCV001323222

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
CA061457 rs_768088337

10 SubmittersRCV001334472RCV001796447RCV001820028RCV002368113RCV003938638

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
Condition: not provided
Criteria Provided
Conflicting Classifications
CA381178496 rs_1427043628

4 SubmittersRCV001350060RCV002404831RCV004770089

NM_001370259.2(MEN1):c.154C>G (p.Arg52Gly) SNV
Germline
Chr11:64809956 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187772 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
CA381183209 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
CA475162830 rs_1347044526

4 SubmittersRCV001365237RCV002255652

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
CA061032 rs_752747097

2 SubmittersRCV001361208RCV003169798

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
CA381184441 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
CA381179217 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
CA381179951 rs_794728629

1 SubmittersRCV001390118

NM_001370259.2(MEN1):c.1010C>A (p.Ala337Asp) SNV
Germline
Chr11:64806271 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381183254 rs_2136118998

2 SubmittersRCV001382548RCV002319708

NM_001370259.2(MEN1):c.936C>A (p.Tyr312Ter) SNV
Germline
Chr11:64806345 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381183414 rs_386134260

1 SubmittersRCV001382417

NM_001370259.2(MEN1):c.657C>T (p.Ser219=) SNV
Germline
Chr11:64807678 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA475162818 rs_2059889716

3 SubmittersRCV001394944RCV003284300RCV004774444

NM_001370259.2(MEN1):c.1689G>A (p.Glu563=) SNV
Germline
Chr11:64804478 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA475163340 rs_1178628764

4 SubmittersRCV001478555RCV002414156RCV004998920

NM_001370259.2(MEN1):c.912+2T>G SNV
Germline
Chr11:64807009 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381183470 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
CA381183610 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
CA381183389 rs_2136120898

4 SubmittersRCV002031634RCV002372824RCV002479828

NM_001370259.2(MEN1):c.1576G>A (p.Ala526Thr) SNV
Germline
Chr11:64804591 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381178392 rs_1295193195

2 SubmittersRCV002044109RCV004038788

NM_001370259.2(MEN1):c.137A>C (p.His46Pro) SNV
Germline
Chr11:64809973 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187837 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
CA381183465 rs_1057518572

1 SubmittersRCV002000024

NM_001370259.2(MEN1):c.794G>A (p.Trp265Ter) SNV
Germline
Chr11:64807209 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381183971 rs_2136134076

2 SubmittersRCV002423132RCV002000025

NM_001370259.2(MEN1):c.549G>C (p.Trp183Cys) SNV
Germline
Chr11:64807996 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381185806 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
CA381187295 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
CA381183315 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
CA381185224 rs_2136143369

2 SubmittersRCV001896354RCV002361181

NM_001370259.2(MEN1):c.963C>A (p.Tyr321Ter) SNV
Germline
Chr11:64806318 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381183354 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
CA381186285 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
CA060144 rs_780329058

2 SubmittersRCV002123811RCV002337347

NM_001370259.2(MEN1):c.1503C>T (p.Asp501=) SNV
Germline
Chr11:64804664 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA475163079 rs_2136087305

3 SubmittersRCV002149127RCV004763337

NM_001370259.2(MEN1):c.417C>A (p.His139Gln) SNV
Germline
Chr11:64809693 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Multiple Submitters
No Conflicts
CA381186782 rs_386134254

2 SubmittersRCV003517356

NM_001370259.2(MEN1):c.1045C>T (p.Gln349Ter) SNV
Germline
Chr11:64806236 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381183154 rs_2136117686

3 SubmittersRCV002244089RCV005375075

NM_001370259.2(MEN1):c.1350+1G>C SNV
Germline
Chr11:64805033 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381180007 rs_863223311

1 SubmittersRCV002245308

NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg) SNV
Germline
Chr11:64810075 Likely pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381188219 rs_794728614

4 SubmittersRCV002455181RCV003517379RCV004779294

NM_001370259.2(MEN1):c.455T>G (p.Leu152Trp) SNV
Germline
Chr11:64808090 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA381186301 rs_2136159431

2 SubmittersRCV002340198RCV005096592

NM_001370259.2(MEN1):c.783+3G>A SNV
Germline
Chr11:64807549 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA1978891669 rs_1941816378

3 SubmittersRCV002412119RCV003099758

NM_001370259.2(MEN1):c.95C>G (p.Pro32Arg) SNV
Germline
Chr11:64810015 Likely pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381187990 rs_2136194414

2 SubmittersRCV002385283RCV003094838

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
CA2580084446 rs_769835611

3 SubmittersRCV002387929RCV003631259

NM_001370259.2(MEN1):c.1059C>G (p.Tyr353Ter) SNV
Germline
Chr11:64805761 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381182947 rs_1592640846

2 SubmittersRCV002401585RCV005097725

NM_001370259.2(MEN1):c.1417G>T (p.Glu473Ter) SNV
Germline
Chr11:64804750 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381179479 rs_1312374123

2 SubmittersRCV002391727RCV004796728

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
CA381179739 rs_748102589

2 SubmittersRCV002396577RCV003517412

NM_001370259.2(MEN1):c.1050-15C>G SNV
Germline
Chr11:64805785 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA599656472 rs_1465460248

2 SubmittersRCV003517418RCV002401254

NM_001370259.2(MEN1):c.1049+3G>A SNV
Germline
Chr11:64806229 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications
CA2580084477 rs_2497171629

2 SubmittersRCV002398761RCV005248720

NM_001370259.2(MEN1):c.1268G>A (p.Trp423Ter) SNV
Germline
Chr11:64805116 Pathogenic Condition: not provided
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381180419 rs_2136101497

3 SubmittersRCV002481160RCV002574715RCV004641963

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
CA381177532 rs_2136079024

2 SubmittersRCV003062399RCV003481367

NM_001370259.2(MEN1):c.1231G>C (p.Ala411Pro) SNV
Germline
Chr11:64805153 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381180634 rs_757179911

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
CA381185660 rs_2497221294

1 SubmittersRCV003058326

NM_001370259.2(MEN1):c.549G>A (p.Trp183Ter) SNV
Germline
Chr11:64807996 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381185807 rs_2136153753

2 SubmittersRCV003062405RCV005601983

NM_001370259.2(MEN1):c.416A>C (p.His139Pro) SNV
Germline
Chr11:64809694 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381186786 rs_1114167515

1 SubmittersRCV003062407

NM_001370259.2(MEN1):c.286C>T (p.Gln96Ter) SNV
Germline
Chr11:64809824 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Multiple Submitters
No Conflicts
CA381187481 rs_2136186060

2 SubmittersRCV003062410

NM_001370259.2(MEN1):c.133G>C (p.Glu45Gln) SNV
Germline
Chr11:64809977 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187859 rs_1114167491

1 SubmittersRCV003058327

NM_001370259.2(MEN1):c.2T>A (p.Met1Lys) SNV
Germline
Chr11:64810108 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381188343 rs_2497292377

2 SubmittersRCV003058328RCV005601985

NM_001370259.2(MEN1):c.655-2A>G SNV
Germline
Chr11:64807682 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381185257 rs_1941831929

1 SubmittersRCV003084888

NM_001370259.2(MEN1):c.498G>C (p.Gln166His) SNV
Germline
Chr11:64808047 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381186082 rs_2136156789

1 SubmittersRCV003110752

NM_001370259.2(MEN1):c.1471G>T (p.Glu491Ter) SNV
Germline
Chr11:64804696 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381179101 rs_753942853

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
CA381183896 rs_1592647281

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
CA381186643 rs_2497255432

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
CA381177432 rs_2136078405

1 SubmittersRCV003028068

NM_001370259.2(MEN1):c.99C>G (p.Asp33Glu) SNV
Germline
Chr11:64810011 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187976 rs_1193762201

1 SubmittersRCV003023285

NM_001370259.2(MEN1):c.862G>T (p.Glu288Ter) SNV
Germline
Chr11:64807061 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381183590 rs_2497187851

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
CA381183718 rs_368619946

1 SubmittersRCV003047625

NM_001370259.2(MEN1):c.825G>A (p.Arg275=) SNV
Germline
Chr11:64807098 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA474983611 rs_1420555678

2 SubmittersRCV003047246RCV005601979

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
CA2580084469 rs_2136111597

3 SubmittersRCV003225588RCV003395729RCV003466041

NM_001370259.2(MEN1):c.137A>T (p.His46Leu) SNV
Germline
Chr11:64809973 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187840 rs_2136192730

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
CA381186726 rs_2136178143

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
CA343972877 rs_2527281270

1 SubmittersRCV003233053

NM_001370259.2(MEN1):c.1327T>C (p.Ser443Pro) SNV
Germline
Chr11:64805057 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA060389 rs_774800736

2 SubmittersRCV003288355RCV005602033

NM_001370259.2(MEN1):c.116T>A (p.Leu39Ter) SNV
Germline
Chr11:64809994 Pathogenic Multiple endocrine neoplasia, type 1 No Assertion Criteria Provided
CA381187918 rs_1565652770

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
CA381183447 rs_1278139327

2 SubmittersRCV003384140RCV003631321

NM_001370259.2(MEN1):c.97G>C (p.Asp33His) SNV
Germline
Chr11:64810013 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187987 rs_2136194342

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
CA381186638 rs_2497255432

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
CA381183366 rs_1941726727

1 SubmittersRCV003517928

NM_001370259.2(MEN1):c.97G>T (p.Asp33Tyr) SNV
Germline
Chr11:64810013 Likely pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA381187986 rs_2136194342

2 SubmittersRCV003518531RCV004943087

NM_001370259.2(MEN1):c.1264A>T (p.Lys422Ter) SNV
Germline
Chr11:64805120 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381180447 rs_2497144069

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
CA381180662 rs_1941619859

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
CA381182254 rs_2136109022

1 SubmittersRCV003518778

NM_001370259.2(MEN1):c.1096G>T (p.Glu366Ter) SNV
Germline
Chr11:64805724 Pathogenic Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA381182659 rs_2497159527

3 SubmittersRCV003518779RCV004943097RCV004999967

NM_001370259.2(MEN1):c.1059C>A (p.Tyr353Ter) SNV
Germline
Chr11:64805761 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381182950 rs_1592640846

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
CA381183131 rs_2497171722

2 SubmittersRCV003518781

NM_001370259.2(MEN1):c.446-3C>G SNV
Germline
Chr11:64808102 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA913189093 rs_377461506

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
CA381187681 rs_1592659770

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
CA475163564 rs_1941992347

3 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
CA381188106 rs_1592660695

1 SubmittersRCV003517090

NM_001370259.2(MEN1):c.1098A>G (p.Glu366=) SNV
Germline
Chr11:64805722 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1 Criteria Provided
Conflicting Classifications
CA474983132 rs_149383809

2 SubmittersRCV003517750

NM_001370259.2(MEN1):c.422A>T (p.Gln141Leu) SNV
Germline
Chr11:64809688 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381186753 rs_758846538

1 SubmittersRCV003631507

NM_001370259.2(MEN1):c.1673T>C (p.Met558Thr) SNV
Germline
Chr11:64804494 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA381177754 rs_2497106696

2 SubmittersRCV003631631RCV004636796

NM_001370259.2(MEN1):c.983A>C (p.His328Pro) SNV
Germline
Chr11:64806298 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381183312 rs_2497174269

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
CA381184029 rs_1114167472

1 SubmittersRCV003632115

NM_001370259.2(MEN1):c.675A>T (p.Gly225=) SNV
Germline
Chr11:64807660 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1 Criteria Provided
Conflicting Classifications
CA475162805 rs_2497207176

2 SubmittersRCV003632058

NM_001370259.2(MEN1):c.113C>A (p.Ser38Tyr) SNV
Germline
Chr11:64809997 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381187927 rs_794728616

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
CA381184191 rs_2497203524

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
CA381177806 rs_2497107321

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
CA381187839 rs_2136192730

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
CA381179937 rs_863224810

1 SubmittersRCV003848823

NM_001370259.2(MEN1):c.75C>A (p.Ala25=) SNV
Germline
Chr11:64810035 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA475163130 rs_1399788808

3 SubmittersRCV003869180RCV005377600

NM_001370259.2(MEN1):c.1232C>T (p.Ala411Val) SNV
Germline
Chr11:64805152 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381180624 rs_2136102457

1 SubmittersRCV003856729

NM_001370259.2(MEN1):c.-10G>A SNV
Germline
Chr11:64810119 Conflicting classifications of pathogenicity MEN1-related disorder
not specified
Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA059952 rs_750849285

4 SubmittersRCV003941885RCV004527016RCV005249668RCV005251380

NM_001370259.2(MEN1):c.913-5T>C SNV
Germline
Chr11:64806373 Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2825002032 rs_2497177324

3 SubmittersRCV004011825RCV004943278

NM_001370259.2(MEN1):c.399C>A (p.Tyr133Ter) SNV
Germline
Chr11:64809711 Pathogenic Hereditary cancer-predisposing syndrome
Multiple endocrine neoplasia, type 1
Criteria Provided
Multiple Submitters
No Conflicts
CA381187241 rs_1592657892

2 SubmittersRCV004522720RCV005249682

NM_001370259.2(MEN1):c.493T>C (p.Cys165Arg) SNV
Germline
Chr11:64808052 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381186112 rs_2497226943

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
CA381185318 rs_2136148788

1 SubmittersRCV004547434

NM_001370259.2(MEN1):c.1350+2T>G SNV
Germline
Chr11:64805032 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
CA381180003 rs_1555164115

1 SubmittersRCV004547435

NM_001370259.2(MEN1):c.824+2T>C SNV
Unknown
Chr11:64807177 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter
rs_2136132542

1 SubmittersRCV004589352

NM_001370259.2(MEN1):c.1715C>A (p.Ser572Ter) SNV
Germline
Chr11:64804452 Pathogenic Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004690879RCV005000575

NM_001370259.2(MEN1):c.912+2T>A SNV
Germline
Chr11:64807009 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004702984

NM_001370259.2(MEN1):c.1043T>A (p.Ile348Asn) SNV
Germline
Chr11:64806238 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004703033

NM_001370259.2(MEN1):c.981C>A (p.Tyr327Ter) SNV
Germline
Chr11:64806300 Pathogenic Multiple endocrine neoplasia, type 1
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005103596RCV004721968

NM_001370259.2(MEN1):c.134A>T (p.Glu45Val) SNV
Germline
Chr11:64809976 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004783680

NM_001370259.2(MEN1):c.*10G>T SNV
Unknown
Chr11:64804324 Conflicting classifications of pathogenicity Condition: not provided
Multiple endocrine neoplasia, type 1
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004999053RCV005249754

NM_001370259.2(MEN1):c.850G>A (p.Ala284Thr) SNV
Germline
Chr11:64807073 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005106604

NM_001370259.2(MEN1):c.668T>G (p.Leu223Arg) SNV
Germline
Chr11:64807667 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005106608

NM_001370259.2(MEN1):c.428T>A (p.Leu143His) SNV
Germline
Chr11:64809682 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005106614

NM_001370259.2(MEN1):c.356A>T (p.Lys119Met) SNV
Germline
Chr11:64809754 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005106618

NM_001370259.2(MEN1):c.1049+5G>C SNV
Germline
Chr11:64806227 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005119518

NM_001370259.2(MEN1):c.1350+1G>T SNV
Germline
Chr11:64805033 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005125135

NM_001370259.2(MEN1):c.1462A>T (p.Lys488Ter) SNV
Germline
Chr11:64804705 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005198868

NM_001370259.2(MEN1):c.-23-22C>A SNV
Germline
Chr11:64810154 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005356997

NM_001370259.2(MEN1):c.1357C>T (p.Gln453Ter) SNV
Germline
Chr11:64804810 Pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005417888

NM_001370259.2(MEN1):c.1057T>G (p.Tyr353Asp) SNV
Germline
Chr11:64805763 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005600468

NM_001370259.2(MEN1):c.1238T>C (p.Leu413Pro) SNV
Germline
Chr11:64805146 Likely pathogenic Multiple endocrine neoplasia, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005600517