| - GRCh37:
- Chr11:64570986-64572288
- GRCh38:
- Chr11:64803514-64804816
| MEN1 | V451fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Jun 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64570986-64572288
- GRCh38:
- Chr11:64803514-64804816
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Sep 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64570986-64577604
- GRCh38:
- Chr11:64803514-64810132
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571394
- GRCh38:
- Chr11:64803922
| MEN1 | | Somatotroph adenoma | Likely pathogenic (Dec 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571674-64572290
- GRCh38:
- Chr11:64804202-64804818
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Sep 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571796-64578188
- GRCh38:
- Chr11:64804324-64810716
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Jun 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571808
- GRCh38:
- Chr11:64804336
| MEN1 | | Somatotroph adenoma | Pathogenic (Dec 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571883
- GRCh38:
- Chr11:64804411
| MEN1 | Q531*, Q586*, Q591*, Q628*, Q551*, Q593*, Q633* | Multiple endocrine neoplasia, type 1 | Likely pathogenic (Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571900
- GRCh38:
- Chr11:64804428
| MEN1 | T545fs, T622fs, T585fs, T580fs | Multiple endocrine neoplasia, type 1 | Likely pathogenic (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571907
- GRCh38:
- Chr11:64804435
| MEN1 | Q523*, Q578*, Q585*, Q620*, Q543*, Q583*, Q625* | Multiple endocrine neoplasia, type 1 | Likely pathogenic (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571911-64571931
- GRCh38:
- Chr11:64804439-64804459
| MEN1 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Sep 15, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571914
- GRCh38:
- Chr11:64804442
| MEN1 | K541fs, K618fs, K581fs, K576fs | Hereditary cancer-predisposing syndrome | Likely pathogenic (Aug 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571918-64571996
- GRCh38:
- Chr11:64804446-64804524
| MEN1 | G513fs, G548fs, G553fs, G590fs | Hereditary cancer-predisposing syndrome | Pathogenic (Dec 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571929
- GRCh38:
- Chr11:64804457
| MEN1 | N536fs, N576fs, N613fs, N571fs | Hereditary cancer-predisposing syndrome | Likely pathogenic (Sep 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571952
- GRCh38:
- Chr11:64804480
| MEN1 | E563*, E568*, E528*, E605* | not provided | Pathogenic (Apr 24, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571953-64571954
- GRCh38:
- Chr11:64804481-64804482
| MEN1 | E568fs, E528fs, E563fs, E605fs | not provided | Pathogenic (Jan 21, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr11:64571957
- GRCh38:
- Chr11:64804485
| MEN1 | M506R, M526R, M566R, M561R, M608R, M603R, M568R | Hereditary cancer-predisposing syndrome | Likely pathogenic (Mar 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571960-64571967
- GRCh38:
- Chr11:64804488-64804495
| MEN1 | M563fs, M523fs, M558fs, M600fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571964
- GRCh38:
- Chr11:64804492
| MEN1 | K564*, K601*, K566*, K606*, K559*, K524*, K504* | Hereditary cancer-predisposing syndrome | Pathogenic (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571964-64571965
- GRCh38:
- Chr11:64804492-64804493
| MEN1 | K524fs, K564fs, K601fs, K559fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571966-64571997
- GRCh38:
- Chr11:64804494-64804525
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571969
- GRCh38:
- Chr11:64804497
| MEN1 | K557fs, K522fs, K562fs, K599fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571970
- GRCh38:
- Chr11:64804498
| MEN1 | K557E, K562E, K522E, K599E | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jun 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571971-64571974
- GRCh38:
- Chr11:64804499-64804502
| MEN1 | S555fs, S520fs, S560fs, S597fs | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1 | Pathogenic/Likely pathogenic (Feb 5, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64571973
- GRCh38:
- Chr11:64804501
| MEN1 | E556*, E561*, E598*, E521* | Hereditary cancer-predisposing syndrome | Pathogenic (Nov 22, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571975
- GRCh38:
- Chr11:64804503
| MEN1 | S555N, S560N, S597N, S520N | not specified, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1
| Pathogenic/Likely pathogenic (Jul 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64571979
- GRCh38:
- Chr11:64804507
| MEN1 | Q519fs, Q554fs, Q596fs, Q559fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571979
- GRCh38:
- Chr11:64804507
| MEN1 | Q554*, Q559*, Q519*, Q596* | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 1
| Pathogenic (Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64571981-64571982
- GRCh38:
- Chr11:64804509-64804510
| MEN1 | F518fs, F553fs, F558fs, F595fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571985
- GRCh38:
- Chr11:64804513
| MEN1 | T552S, T557S, T517S, T594S | Adrenocortical adenoma | Pathogenic (Dec 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr11:64571988
- GRCh38:
- Chr11:64804516
| MEN1 | L593fs, L516fs, L551fs, L556fs | not provided | Pathogenic (May 30, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64571999-64572000
- GRCh38:
- Chr11:64804527-64804528
| MEN1 | E552fs, E512fs, E589fs, E547fs | Hereditary cancer-predisposing syndrome | Pathogenic (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572020-64572021
- GRCh38:
- Chr11:64804548-64804549
| MEN1 | P540fs, P505fs, P545fs, P582fs | not provided | Pathogenic (Jan 31, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572021-64572037
- GRCh38:
- Chr11:64804549-64804565
| MEN1 | A577fs, A500fs, A540fs, A535fs | not provided | Likely pathogenic (Apr 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572024-64572025
- GRCh38:
- Chr11:64804552-64804553
| MEN1 | A504fs, A539fs, A544fs, A581fs | Hereditary cancer-predisposing syndrome, not provided | Pathogenic/Likely pathogenic (Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572030
- GRCh38:
- Chr11:64804558
| MEN1 | V542fs, V537fs, V502fs, V579fs | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 1
| Pathogenic/Likely pathogenic (May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572049
- GRCh38:
- Chr11:64804577
| MEN1 | G496fs, G536fs, G531fs, G573fs | not provided, Multiple endocrine neoplasia, type 1 | Pathogenic (Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572060
- GRCh38:
- Chr11:64804588
| MEN1 | R527*, R532*, R569*, R492* | not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1
| Pathogenic (Oct 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572065
- GRCh38:
- Chr11:64804593
| MEN1 | T567fs, T525fs, T490fs, T530fs | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1 | Pathogenic (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572074-64572075
- GRCh38:
- Chr11:64804602-64804603
| MEN1 | V487fs, V522fs, V527fs, V564fs | Multiple endocrine neoplasia, type 1 | Likely pathogenic (Jan 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572083
- GRCh38:
- Chr11:64804611
| MEN1 | P484fs, P519fs, P524fs, P561fs | not provided, Multiple endocrine neoplasia, type 1 | Pathogenic (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572090-64572091
- GRCh38:
- Chr11:64804618-64804619
| MEN1 | K482fs, K517fs, K522fs, K559fs | not provided | Pathogenic (Jan 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572090-64572091
- GRCh38:
- Chr11:64804618-64804619
| MEN1 | K517fs, K559fs, K482fs, K522fs | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 1
| Pathogenic/Likely pathogenic (Sep 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572090
- GRCh38:
- Chr11:64804618
| MEN1 | K517*, K522*, K482*, K559* | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572091
- GRCh38:
- Chr11:64804619
| MEN1 | K482fs, K517fs, K522fs, K559fs | not provided | Pathogenic (Feb 16, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572091-64572092
- GRCh38:
- Chr11:64804619-64804620
| MEN1 | K482fs, K517fs, K522fs, K559fs | not provided | Pathogenic (Sep 20, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572092-64572093
- GRCh38:
- Chr11:64804620-64804621
| MEN1 | R481fs, R521fs, R558fs, R516fs | not provided, Multiple endocrine neoplasia, type 1, Hereditary cancer-predisposing syndrome
| Pathogenic (Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572093
- GRCh38:
- Chr11:64804621
| MEN1 | R516fs, R481fs, R521fs, R558fs | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 1
| Pathogenic (Feb 21, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572098-64572107
- GRCh38:
- Chr11:64804626-64804635
| MEN1 | V476fs, V511fs, V553fs, V516fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572100
- GRCh38:
- Chr11:64804628
| MEN1 | R521fs, R558fs, R481fs, R516fs | Multiple endocrine neoplasia, type 1, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572104
- GRCh38:
- Chr11:64804632
| MEN1 | S512*, S517*, S477*, S554* | Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572104-64572105
- GRCh38:
- Chr11:64804632-64804633
| MEN1 | S512fs, S477fs, S517fs, S554fs | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 1
| Pathogenic (Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572106-64572107
- GRCh38:
- Chr11:64804634-64804635
| MEN1 | S554fs, S477fs, S517fs, S512fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572109-64572110
- GRCh38:
- Chr11:64804637-64804638
| MEN1 | A552fs, A510fs, A475fs, A515fs | Hereditary cancer-predisposing syndrome | Pathogenic (Jul 30, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572117
- GRCh38:
- Chr11:64804645
| MEN1 | Q473*, Q513*, Q508*, Q550* | Multiple endocrine neoplasia, type 1 | Pathogenic (Mar 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572131-64572132
- GRCh38:
- Chr11:64804659-64804660
| MEN1 | G468fs, G508fs, G545fs, G503fs | Hereditary cancer-predisposing syndrome | Pathogenic (Jan 14, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572133-64572134
- GRCh38:
- Chr11:64804661-64804662
| MEN1 | L509fs, L546fs, L504fs, L469fs | Multiple endocrine neoplasia, type 1, not provided | Pathogenic (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572152
- GRCh38:
- Chr11:64804680
| MEN1 | K461fs, K496fs, K501fs, K538fs | not provided | Pathogenic (Aug 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572161
- GRCh38:
- Chr11:64804689
| MEN1 | P458fs, P493fs, P498fs, P535fs | Multiple endocrine neoplasia, type 1, Hereditary cancer-predisposing syndrome | Pathogenic (Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572166
- GRCh38:
- Chr11:64804694
| MEN1 | E491fs, E533fs, E456fs, E496fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572168
- GRCh38:
- Chr11:64804696
| MEN1 | E456*, E498*, E491*, E436*, E496*, E533*, E538* | Multiple endocrine neoplasia, type 1 | Likely pathogenic (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572175
- GRCh38:
- Chr11:64804703
| MEN1 | K453fs, K488fs, K530fs, K493fs | Hereditary cancer-predisposing syndrome, not provided | Pathogenic (Dec 2, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572183
- GRCh38:
- Chr11:64804711
| MEN1 | E451*, E486*, E491*, E528* | Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572194
- GRCh38:
- Chr11:64804722
| MEN1 | G524fs, G447fs, G482fs, G487fs | Hereditary cancer-predisposing syndrome | Pathogenic (Aug 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572198-64572204
- GRCh38:
- Chr11:64804726-64804732
| MEN1 | R479fs, R521fs, R444fs, R484fs | Multiple endocrine neoplasia, type 1 | Pathogenic (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572200-64572245
- GRCh38:
- Chr11:64804728-64804773
| MEN1 | A430fs, A465fs, A470fs, A507fs | not provided | Likely pathogenic (Aug 28, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572202
- GRCh38:
- Chr11:64804730
| MEN1 | R480fs, R485fs, R445fs, R522fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572209-64572210
- GRCh38:
- Chr11:64804737-64804738
| MEN1 | E442fs, E477fs, E482fs, E519fs | not provided | Pathogenic (Dec 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572210
- GRCh38:
- Chr11:64804738
| MEN1 | E442fs, E519fs, E477fs, E482fs | Hereditary cancer-predisposing syndrome | Pathogenic (Jul 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572210
- GRCh38:
- Chr11:64804738
| MEN1 | E477*, E482*, E519*, E442* | not provided, Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1
| Pathogenic (May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572219
- GRCh38:
- Chr11:64804747
| MEN1 | E439fs, E474fs, E479fs, E516fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572222
- GRCh38:
- Chr11:64804750
| MEN1 | E473*, E520*, E418*, E438*, E480*, E478*, E515* | Hereditary cancer-predisposing syndrome | Pathogenic (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572225-64572226
- GRCh38:
- Chr11:64804753-64804754
| MEN1 | G477fs, G514fs, G437fs, G472fs | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572226
- GRCh38:
- Chr11:64804754
| MEN1 | W471*, W436*, W476*, W513* | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572226-64572239
- GRCh38:
- Chr11:64804754-64804767
| MEN1 | A432fs, A467fs, A472fs, A509fs | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1 | Pathogenic (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572227
- GRCh38:
- Chr11:64804755
| MEN1 | W471*, W476*, W436*, W513* | Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572234-64572235
- GRCh38:
- Chr11:64804762-64804763
| MEN1 | E434fs, E474fs, E469fs, E511fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572243-64572246
- GRCh38:
- Chr11:64804771-64804774
| MEN1 | A470fs, A507fs, A465fs, A430fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572246
- GRCh38:
- Chr11:64804774
| MEN1 | A470fs, A507fs, A430fs, A465fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572247-64572248
- GRCh38:
- Chr11:64804775-64804776
| MEN1 | A465fs, A430fs, A470fs, A507fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572247-64572248
- GRCh38:
- Chr11:64804775-64804776
| MEN1 | A430fs, A465fs, A470fs, A507fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572247-64572248
- GRCh38:
- Chr11:64804775-64804776
| MEN1 | A432fs, A467fs, A472fs, A509fs | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 1
| Pathogenic (May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572247-64572248
- GRCh38:
- Chr11:64804775-64804776
| MEN1 | | Hereditary cancer-predisposing syndrome | Pathogenic (Jul 11, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572248
- GRCh38:
- Chr11:64804776
| MEN1 | A469fs, A506fs, A429fs, A464fs | not specified | Likely pathogenic (Feb 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572249-64572250
- GRCh38:
- Chr11:64804777-64804778
| MEN1 | A469fs, A506fs, A429fs, A464fs | Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572249
- GRCh38:
- Chr11:64804777
| MEN1 | A506fs, A469fs, A429fs, A464fs | Hereditary cancer-predisposing syndrome | Pathogenic (Jul 16, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572252
- GRCh38:
- Chr11:64804780
| MEN1 | E463*, E470*, E428*, E468*, E505*, E408*, E510* | Hereditary cancer-predisposing syndrome | Pathogenic (Aug 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572256-64572259
- GRCh38:
- Chr11:64804784-64804787
| MEN1 | E503fs, E461fs, E466fs, E426fs | Hereditary cancer-predisposing syndrome | Pathogenic (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572257-64572264
- GRCh38:
- Chr11:64804785-64804792
| MEN1 | S464fs, S424fs, S501fs, S459fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572261
- GRCh38:
- Chr11:64804789
| MEN1 | | not provided | Pathogenic (Mar 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572261
- GRCh38:
- Chr11:64804789
| MEN1 | R460*, R465*, R502*, R425* | Hereditary cancer-predisposing syndrome, not provided, Multiple endocrine neoplasia, type 1
| Pathogenic (Jul 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572272-64572283
- GRCh38:
- Chr11:64804800-64804811
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Jul 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr11:64572280-64572291
- GRCh38:
- Chr11:64804808-64804819
| MEN1 | | not provided, Multiple endocrine neoplasia, type 1 | Likely pathogenic (Oct 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:64572282-64572283
- GRCh38:
- Chr11:64804810-64804811
| MEN1 | Q418fs, Q453fs, Q458fs, Q495fs | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572289
- GRCh38:
- Chr11:64804817
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572289
- GRCh38:
- Chr11:64804817
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572289
- GRCh38:
- Chr11:64804817
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Oct 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572290
- GRCh38:
- Chr11:64804818
| MEN1 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Sep 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572290
- GRCh38:
- Chr11:64804818
| MEN1 | | Multiple endocrine neoplasia, type 1 | Pathogenic (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:64572478-64572579
- GRCh38:
- Chr11:64805006-64805107
| MEN1 | | Multiple endocrine neoplasia, type 1 | Likely pathogenic (Nov 27, 2019) | criteria provided, single submitter |