| - GRCh37:
- Chr18:48573397-48573685
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48604616-48604837
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48591783-48593567
| SMAD4 | | Juvenile polyposis syndrome | Pathogenic (Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48602988-48604837
| SMAD4 | | Juvenile polyposis syndrome | Pathogenic (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88683123-88683476
| BMPR1A | | Juvenile polyposis syndrome | Pathogenic (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635625-88651996
| BMPR1A | | Juvenile polyposis syndrome | Uncertain significance (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635625-88683476
| BMPR1A | | Juvenile polyposis syndrome | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88676881-88683476
| BMPR1A | | Juvenile polyposis syndrome | Pathogenic (Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88676881-88679236
| BMPR1A | | Juvenile polyposis syndrome | Pathogenic (Jun 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659533
- GRCh38:
- Chr10:86899776
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586261
- GRCh38:
- Chr18:51059891
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575098
- GRCh38:
- Chr18:51048728
| SMAD4 | L98V | Juvenile polyposis syndrome | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573555
- GRCh38:
- Chr18:51047185
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88671999
- GRCh38:
- Chr10:86912242
| BMPR1A | H178R, H194R, H150R, H203R | Juvenile polyposis syndrome | Uncertain significance (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88677072
- GRCh38:
- Chr10:86917315
| BMPR1A | E284V, E172V, E302V, E258V, E286V, E311V | Juvenile polyposis syndrome | Uncertain significance (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88677057
- GRCh38:
- Chr10:86917300
| BMPR1A | V281A, V167A, V253A, V279A, V297A, V306A | Juvenile polyposis syndrome | Uncertain significance (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573677
- GRCh38:
- Chr18:51047307
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48593420
- GRCh38:
- Chr18:51067050
| SMAD4 | C391R | Juvenile polyposis syndrome | Uncertain significance (Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581132
- GRCh38:
- Chr18:51054762
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575694
- GRCh38:
- Chr18:51049324
| SMAD4 | A152T | Juvenile polyposis syndrome | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573418
- GRCh38:
- Chr18:51047048
| SMAD4 | M1T | Juvenile polyposis syndrome | Uncertain significance (May 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88679122
- GRCh38:
- Chr10:86919365
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88676921
- GRCh38:
- Chr10:86917164
| BMPR1A | M122V, M234V, M236V, M208V, M252V, M261V | Juvenile polyposis syndrome | Uncertain significance (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88677093
- GRCh38:
- Chr10:86917336
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Sep 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88672152
- GRCh38:
- Chr10:86912395
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649920
- GRCh38:
- Chr10:86890163
| BMPR1A | P29T, P57T | Juvenile polyposis syndrome | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48604611
- GRCh38:
- Chr18:51078241
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88676875
- GRCh38:
- Chr10:86917118
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88672120
- GRCh38:
- Chr10:86912363
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88683343
- GRCh38:
- Chr10:86923586
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573533
- GRCh38:
- Chr18:51047163
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48593573
- GRCh38:
- Chr18:51067203
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584481
- GRCh38:
- Chr18:51058111
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88683271
- GRCh38:
- Chr10:86923514
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48602991
- GRCh38:
- Chr18:51076621
| SMAD4 | | Juvenile polyposis syndrome | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575706
- GRCh38:
- Chr18:51049336
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88679044
- GRCh38:
- Chr10:86919287
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88683233
- GRCh38:
- Chr10:86923476
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584769
- GRCh38:
- Chr18:51058399
| SMAD4 | H283Y | Juvenile polyposis syndrome | Uncertain significance (Aug 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48591990
- GRCh38:
- Chr18:51065620
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Jan 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88679042
- GRCh38:
- Chr10:86919285
| BMPR1A | T344A, T353A, T214A, T328A, T300A, T326A | Juvenile polyposis syndrome | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88677073
- GRCh38:
- Chr10:86917316
| BMPR1A | E286D, E302D, E258D, E284D, E172D, E311D | Juvenile polyposis syndrome | Uncertain significance (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575653
- GRCh38:
- Chr18:51049283
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649993
- GRCh38:
- Chr10:86890236
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584846
- GRCh38:
- Chr18:51058476
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48603070
- GRCh38:
- Chr18:51076700
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48604750
- GRCh38:
- Chr18:51078380
| SMAD4 | W524C | Juvenile polyposis syndrome | Likely pathogenic (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88676873
- GRCh38:
- Chr10:86917116
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Jul 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659862
- GRCh38:
- Chr10:86900105
| BMPR1A | F170C, F142C | Juvenile polyposis syndrome | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586225
- GRCh38:
- Chr18:51059855
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584478-48584480
- GRCh38:
- Chr18:51058108-51058110
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581234
- GRCh38:
- Chr18:51054864
| SMAD4 | Q180* | Juvenile polyposis syndrome | Pathogenic (Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659783
- GRCh38:
- Chr10:86900026
| BMPR1A | | Juvenile polyposis syndrome | Likely pathogenic (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659576
- GRCh38:
- Chr10:86899819
| BMPR1A | R120P, R92P | Juvenile polyposis syndrome | Uncertain significance (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651898
- GRCh38:
- Chr10:86892141
| BMPR1A | C82Y, C54Y | Juvenile polyposis syndrome | Uncertain significance (Jul 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48604828
- GRCh38:
- Chr18:51078458
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88677009
- GRCh38:
- Chr10:86917252
| BMPR1A | T151N, T281N, T265N, T290N, T237N, T263N | Juvenile polyposis syndrome | Uncertain significance (Nov 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575656
- GRCh38:
- Chr18:51049286
| SMAD4 | | Juvenile polyposis syndrome | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573572
- GRCh38:
- Chr18:51047202
| SMAD4 | D52E | Juvenile polyposis syndrome | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575239
- GRCh38:
- Chr18:51048869
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659767
- GRCh38:
- Chr10:86900010
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584816
- GRCh38:
- Chr18:51058446
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88681460
- GRCh38:
- Chr10:86921703
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48593509
- GRCh38:
- Chr18:51067139
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48593506
- GRCh38:
- Chr18:51067136
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88683276
- GRCh38:
- Chr10:86923519
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48593573
- GRCh38:
- Chr18:51067203
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88681409
- GRCh38:
- Chr10:86921652
| BMPR1A | F319L, F431L, F405L, F433L, F449L, F458L | Juvenile polyposis syndrome | Uncertain significance (Apr 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88683208
- GRCh38:
- Chr10:86923451
| BMPR1A | V471A, V473A, V489A, V359A, V445A, V498A | Juvenile polyposis syndrome | Uncertain significance (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584814
- GRCh38:
- Chr18:51058444
| SMAD4 | P298S | Juvenile polyposis syndrome | Uncertain significance (Apr 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88672116
- GRCh38:
- Chr10:86912359
| BMPR1A | G217V, G242V, G189V, G233V | Juvenile polyposis syndrome | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48603119
- GRCh38:
- Chr18:51076749
| SMAD4 | S474T | Juvenile polyposis syndrome | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88681468-88681479
- GRCh38:
- Chr10:86921711-86921722
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88679210
- GRCh38:
- Chr10:86919453
| BMPR1A | A384T, A356T, A382T, A409T, A270T, A400T | Juvenile polyposis syndrome | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575047
- GRCh38:
- Chr18:51048677
| SMAD4 | | Juvenile polyposis syndrome | Benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581191
- GRCh38:
- Chr18:51054821
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48603056
- GRCh38:
- Chr18:51076686
| SMAD4 | T453A | Juvenile polyposis syndrome | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88683186
- GRCh38:
- Chr10:86923429
| BMPR1A | S352P, S438P, S464P, S491P, S482P, S466P | Juvenile polyposis syndrome | Uncertain significance (Apr 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48604715
- GRCh38:
- Chr18:51078345
| SMAD4 | Y513N | Juvenile polyposis syndrome | Uncertain significance (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659607
- GRCh38:
- Chr10:86899850
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573449
- GRCh38:
- Chr18:51047079
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Mar 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659892
- GRCh38:
- Chr10:86900135
| BMPR1A | | Juvenile polyposis syndrome | Uncertain significance (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573546
- GRCh38:
- Chr18:51047176
| SMAD4 | V44L | Juvenile polyposis syndrome | Uncertain significance (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584593
- GRCh38:
- Chr18:51058223
| SMAD4 | Q256* | Juvenile polyposis syndrome | Pathogenic (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48604764
- GRCh38:
- Chr18:51078394
| SMAD4 | L529* | Juvenile polyposis syndrome | Pathogenic (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581369
- GRCh38:
- Chr18:51054999
| SMAD4 | | Juvenile polyposis syndrome | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575226
- GRCh38:
- Chr18:51048856
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575714
- GRCh38:
- Chr18:51049344
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Mar 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573585-48573588
- GRCh38:
- Chr18:51047215-51047218
| SMAD4 | | Juvenile polyposis syndrome | Pathogenic (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659900
- GRCh38:
- Chr10:86900143
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649917
- GRCh38:
- Chr10:86890160
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575146
- GRCh38:
- Chr18:51048776
| SMAD4 | Y114D | Juvenile polyposis syndrome | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88676961
- GRCh38:
- Chr10:86917204
| BMPR1A | W274*, W221*, W247*, W265*, W135*, W249* | Juvenile polyposis syndrome | Pathogenic (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659658
- GRCh38:
- Chr10:86899901
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584604-48584605
- GRCh38:
- Chr18:51058234-51058235
| SMAD4 | H261fs | Juvenile polyposis syndrome | Pathogenic (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581133
- GRCh38:
- Chr18:51054763
| SMAD4 | | Juvenile polyposis syndrome | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88681349
- GRCh38:
- Chr10:86921592
| BMPR1A | | Juvenile polyposis syndrome | Likely benign (Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48593453
- GRCh38:
- Chr18:51067083
| SMAD4 | L402I | Juvenile polyposis syndrome | Uncertain significance (Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48591900
- GRCh38:
- Chr18:51065530
| SMAD4 | D355N | Juvenile polyposis syndrome | Uncertain significance (Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88677024
- GRCh38:
- Chr10:86917267
| BMPR1A | S242N, S286N, S295N, S268N, S270N, S156N | Juvenile polyposis syndrome | Uncertain significance (Mar 3, 2022) | criteria provided, single submitter |