| - GRCh37:
- Chr18:48556583-48604847
- GRCh38:
- Chr18:51030213-51078477
| SMAD4 | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Jul 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48556583-48591976
- GRCh38:
- Chr18:51030213-51065606
| SMAD4 | | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573424-48573425
- GRCh38:
- Chr18:51047054-51047055
| SMAD4 | M4fs | not provided | Likely pathogenic
(Feb 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573438
- GRCh38:
- Chr18:51047068
| SMAD4 | N8fs | Juvenile polyposis syndrome | Pathogenic
(Jan 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573485
- GRCh38:
- Chr18:51047115
| SMAD4 | M24fs | Juvenile polyposis syndrome | Pathogenic
(Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573524
- GRCh38:
- Chr18:51047154
| SMAD4 | R38fs | Juvenile polyposis syndrome | Pathogenic
(Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573548-48573566
- GRCh38:
- Chr18:51047178-51047196
| SMAD4 | K46fs | Juvenile polyposis syndrome | Pathogenic
(Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573563-48573564
- GRCh38:
- Chr18:51047193-51047194
| SMAD4 | D52fs | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection,
not provided | Pathogenic
(Mar 29, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48573564
- GRCh38:
- Chr18:51047194
| SMAD4 | D52fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 13, 2015) | 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:
- Chr18:48573632-48573633
- GRCh38:
- Chr18:51047262-51047263
| SMAD4 | T73fs | Juvenile polyposis syndrome | Pathogenic
(Apr 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573639
- GRCh38:
- Chr18:51047269
| SMAD4 | Q75* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573639
- GRCh38:
- Chr18:51047269
| SMAD4 | Q75fs | Juvenile polyposis syndrome | Pathogenic
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573649-48573650
- GRCh38:
- Chr18:51047279-51047280
| SMAD4 | R81fs | Juvenile polyposis syndrome | Pathogenic
(May 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573663
- GRCh38:
- Chr18:51047293
| SMAD4 | Q83* | Juvenile polyposis syndrome | Pathogenic
(Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48573666
- GRCh38:
- Chr18:51047296
| SMAD4 | | Juvenile polyposis syndrome | Likely pathogenic
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575054
- GRCh38:
- Chr18:51048684
| SMAD4 | | Juvenile polyposis syndrome, not provided | Likely pathogenic
(Sep 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575055
- GRCh38:
- Chr18:51048685
| SMAD4 | | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575055
- GRCh38:
- Chr18:51048685
| SMAD4 | | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
| Likely pathogenic
(Jan 26, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575066-48575070
- GRCh38:
- Chr18:51048696-51048700
| SMAD4 | | Juvenile polyposis syndrome, not provided | Pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575068-48575069
- GRCh38:
- Chr18:51048698-51048699
| SMAD4 | L98fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 16, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575081-48575082
- GRCh38:
- Chr18:51048711-51048712
| SMAD4 | H92fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575102
- GRCh38:
- Chr18:51048732
| SMAD4 | W99* | Juvenile polyposis syndrome | Pathogenic
(Mar 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575103
- GRCh38:
- Chr18:51048733
| SMAD4 | W99* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
| Pathogenic/Likely pathogenic
(Oct 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575109
- GRCh38:
- Chr18:51048739
| SMAD4 | W101* | Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
| Pathogenic
(Mar 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575122
- GRCh38:
- Chr18:51048752
| SMAD4 | N107fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575122-48575123
- GRCh38:
- Chr18:51048752-51048753
| SMAD4 | H111* | Juvenile polyposis syndrome | Pathogenic
(Mar 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575132
- GRCh38:
- Chr18:51048762
| SMAD4 | | not provided | Pathogenic
(Apr 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575138-48575139
- GRCh38:
- Chr18:51048768-51048769
| SMAD4 | H111fs | Juvenile polyposis syndrome | Pathogenic
(Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575141-48575147
- GRCh38:
- Chr18:51048771-51048777
| SMAD4 | K113fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575154-48575155
- GRCh38:
- Chr18:51048784-51048785
| SMAD4 | Y117fs | Juvenile polyposis syndrome | Pathogenic
(Feb 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575175
- GRCh38:
- Chr18:51048805
| SMAD4 | C123fs | Juvenile polyposis syndrome | Likely pathogenic
(Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575176-48575177
- GRCh38:
- Chr18:51048806-51048807
| SMAD4 | S125fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575196-48575197
- GRCh38:
- Chr18:51048826-51048827
| SMAD4 | Y131fs | Juvenile polyposis syndrome | Pathogenic
(Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575205
- GRCh38:
- Chr18:51048835
| SMAD4 | Y133* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575205
- GRCh38:
- Chr18:51048835
| SMAD4 | Y133* | Juvenile polyposis syndrome | Pathogenic
(Sep 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575209
- GRCh38:
- Chr18:51048839
| SMAD4 | R135* | Juvenile polyposis syndrome, not provided | Pathogenic
(Sep 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575219
- GRCh38:
- Chr18:51048849
| SMAD4 | S138* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575221-48575222
- GRCh38:
- Chr18:51048851-51048852
| SMAD4 | P139fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575231
- GRCh38:
- Chr18:51048861
| SMAD4 | | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Likely pathogenic
(Jul 22, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575231
- GRCh38:
- Chr18:51048861
| SMAD4 | | Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575666-48575667
- GRCh38:
- Chr18:51049296-51049297
| SMAD4 | S144fs | Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome
| Pathogenic
(Sep 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48575683
- GRCh38:
- Chr18:51049313
| SMAD4 | L148fs | Juvenile polyposis syndrome | Pathogenic
(Aug 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48575696
- GRCh38:
- Chr18:51049326
| SMAD4 | | Juvenile polyposis syndrome | Likely pathogenic
(Oct 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581157
- GRCh38:
- Chr18:51054787
| SMAD4 | S154* | Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome
| Pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48581167
- GRCh38:
- Chr18:51054797
| SMAD4 | | Juvenile polyposis syndrome | Pathogenic
(Jul 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581174-48581175
- GRCh38:
- Chr18:51054804-51054805
| SMAD4 | D160fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(May 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581192
- GRCh38:
- Chr18:51054822
| SMAD4 | F166fs | Juvenile polyposis syndrome | Pathogenic
(Nov 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581198
- GRCh38:
- Chr18:51054828
| SMAD4 | G168* | Generalized juvenile polyposis/juvenile polyposis coli | Likely pathogenic
(Jun 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581201
- GRCh38:
- Chr18:51054831
| SMAD4 | Q169* | Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
| Pathogenic
(Jun 30, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48581209-48581210
- GRCh38:
- Chr18:51054839-51054840
| SMAD4 | L172fs | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Pathogenic
(Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581229
- GRCh38:
- Chr18:51054859
| SMAD4 | S178* | Juvenile polyposis syndrome | Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581229
- GRCh38:
- Chr18:51054859
| SMAD4 | S178* | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection,
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Pathogenic/Likely pathogenic
(May 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48581234
- GRCh38:
- Chr18:51054864
| SMAD4 | Q180* | Juvenile polyposis syndrome | Pathogenic
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581243
- GRCh38:
- Chr18:51054873
| SMAD4 | Q183* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
| Pathogenic
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48581258
- GRCh38:
- Chr18:51054888
| SMAD4 | N188fs | Juvenile polyposis syndrome | Pathogenic
(Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581279-48581280
- GRCh38:
- Chr18:51054909-51054910
| SMAD4 | Y195* | Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
| Pathogenic
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48581281
- GRCh38:
- Chr18:51054911
| SMAD4 | Y195* | Juvenile polyposis syndrome | Likely pathogenic
(Oct 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581281
- GRCh38:
- Chr18:51054911
| SMAD4 | Y195* | Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome
| Pathogenic
(Oct 21, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48581315
- GRCh38:
- Chr18:51054945
| SMAD4 | N207fs | Juvenile polyposis syndrome | Pathogenic
(Jul 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48581328-48581329
- GRCh38:
- Chr18:51054958-51054959
| SMAD4 | A212fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584494-48584516
- GRCh38:
- Chr18:51058124-51058146
| SMAD4 | | not provided | Pathogenic
(Dec 19, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584513-48584514
- GRCh38:
- Chr18:51058143-51058144
| SMAD4 | S232fs | Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome,
Hereditary cancer-predisposing syndrome, not provided | Pathogenic
(Jan 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48584514
- GRCh38:
- Chr18:51058144
| SMAD4 | G231fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584539-48584545
- GRCh38:
- Chr18:51058169-51058175
| SMAD4 | | Juvenile polyposis syndrome | Pathogenic
(May 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584540-48584541
- GRCh38:
- Chr18:51058170-51058171
| SMAD4 | Q239fs | Juvenile polyposis syndrome | Pathogenic
(Apr 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584551-48584558
- GRCh38:
- Chr18:51058181-51058188
| SMAD4 | G243fs | Juvenile polyposis syndrome, not provided | Pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48584552
- GRCh38:
- Chr18:51058182
| SMAD4 | S242* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584558-48584559
- GRCh38:
- Chr18:51058186-51058187
| SMAD4 | Q245fs | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
| Pathogenic
(Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48584560
- GRCh38:
- Chr18:51058190
| SMAD4 | Q245* | Carcinoma of colon | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr18:48584569
- GRCh38:
- Chr18:51058199
| SMAD4 | Q248* | Juvenile polyposis syndrome | Pathogenic
(Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584578
- GRCh38:
- Chr18:51058208
| SMAD4 | | Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
| Pathogenic
(Jun 23, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48584593
- GRCh38:
- Chr18:51058223
| SMAD4 | Q256* | Juvenile polyposis syndrome | Pathogenic
(Aug 30, 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:
- Chr18:48584605-48584606
- GRCh38:
- Chr18:51058235-51058236
| SMAD4 | Y260* | Juvenile polyposis syndrome | Pathogenic
(Sep 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584616
- GRCh38:
- Chr18:51058246
| SMAD4 | | Generalized juvenile polyposis/juvenile polyposis coli, Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome,
Juvenile polyposis syndrome | Likely pathogenic
(Mar 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48584725
- GRCh38:
- Chr18:51058355
| SMAD4 | W268* | Juvenile polyposis syndrome | Pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584725-48584726
- GRCh38:
- Chr18:51058355-51058356
| SMAD4 | | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | Likely pathogenic
(Sep 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584749-48584750
- GRCh38:
- Chr18:51058379-51058380
| SMAD4 | | Juvenile polyposis syndrome | Pathogenic
(Aug 1, 1999) | no assertion criteria provided |
| - GRCh37:
- Chr18:48584750
- GRCh38:
- Chr18:51058380
| SMAD4 | Y276* | Juvenile polyposis syndrome | Pathogenic
(Sep 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584772
- GRCh38:
- Chr18:51058402
| SMAD4 | Q284* | Juvenile polyposis syndrome | Pathogenic
(Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584781-48584782
- GRCh38:
- Chr18:51058411-51058412
| SMAD4 | H287fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584805-48584814
- GRCh38:
- Chr18:51058435-51058444
| SMAD4 | P296fs | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
| Pathogenic
(Nov 20, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48584814
- GRCh38:
- Chr18:51058444
| SMAD4 | G299fs | Juvenile polyposis syndrome | Pathogenic/Likely pathogenic
(Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48584819-48584820
- GRCh38:
- Chr18:51058449-51058450
| SMAD4 | | Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection | Pathogenic
(Jul 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584823-48584824
- GRCh38:
- Chr18:51058453-51058454
| SMAD4 | Y301* | Juvenile polyposis syndrome | Pathogenic
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584825
- GRCh38:
- Chr18:51058455
| SMAD4 | W302fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584825
- GRCh38:
- Chr18:51058455
| SMAD4 | Y301* | not provided | Pathogenic
(Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48584827-48584828
- GRCh38:
- Chr18:51058457-51058458
| SMAD4 | | Abnormal bleeding, Thrombocytopenia | Pathogenic
(May 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr18:48586235
- GRCh38:
- Chr18:51059865
| SMAD4 | | Juvenile polyposis syndrome | Likely pathogenic
(Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586235
- GRCh38:
- Chr18:51059865
| SMAD4 | | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Likely pathogenic
(Mar 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586236
- GRCh38:
- Chr18:51059866
| SMAD4 | W302* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(May 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586237
- GRCh38:
- Chr18:51059867
| SMAD4 | W302* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
| Pathogenic
(Aug 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48586246
- GRCh38:
- Chr18:51059876
| SMAD4 | H305fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586247
- GRCh38:
- Chr18:51059877
| SMAD4 | N306fs | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586262
- GRCh38:
- Chr18:51059892
| SMAD4 | Q311* | Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 4, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48586267-48586268
- GRCh38:
- Chr18:51059897-51059898
| SMAD4 | I314fs | Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection, Juvenile polyposis syndrome
| Pathogenic
(Jun 26, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr18:48586286
- GRCh38:
- Chr18:51059916
| SMAD4 | | Juvenile polyposis syndrome | Likely pathogenic
(Nov 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48591787-48593563
- GRCh38:
- Chr18:51065417-51067193
| SMAD4 | | Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome | Pathogenic
(Mar 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr18:48591805
- GRCh38:
- Chr18:51065435
| SMAD4 | W323* | Juvenile polyposis syndrome | Pathogenic
(Mar 1, 2020) | criteria provided, single submitter |