| - GRCh37:
- Chr10:88514773-88516676
- GRCh38:
- Chr10:86755016-86756919
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome | Likely pathogenic
(Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88514773-88683486
- GRCh38:
- Chr10:86755016-86923729
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88514773-88516802
- GRCh38:
- Chr10:86755016-86757045
| BMPR1A | | Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli | Likely pathogenic
(Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88516395-88516675
- GRCh38:
- Chr10:86756638-86756918
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Dec 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88547275-88652138
- GRCh38:
- Chr10:86787518-86892381
| BMPR1A | | See cases | Pathogenic
(Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88598622-88659883
- GRCh38:
- Chr10:86838865-86900126
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Oct 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635624-88684945
- GRCh38:
- Chr10:86875867-86925188
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(May 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635766-88635852
- GRCh38:
- Chr10:86876009-86876095
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Oct 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635766-88683486
- GRCh38:
- Chr10:86876009-86923729
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome | Pathogenic
(Jan 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635775-88635777
- GRCh38:
- Chr10:86876018-86876020
| BMPR1A | M1del | Juvenile polyposis syndrome | Likely pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635776
- GRCh38:
- Chr10:86876019
| BMPR1A | M1L | Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(May 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88635776
- GRCh38:
- Chr10:86876019
| BMPR1A | M1V | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Feb 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88635778
- GRCh38:
- Chr10:86876021
| BMPR1A | M1I | Juvenile polyposis syndrome | Likely pathogenic
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635778
- GRCh38:
- Chr10:86876021
| BMPR1A | M1I | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635778
- GRCh38:
- Chr10:86876021
| BMPR1A | M1I | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635790
- GRCh38:
- Chr10:86876033
| BMPR1A | Y5* | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 26, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88635800
- GRCh38:
- Chr10:86876043
| BMPR1A | R9* | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 10, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635813
- GRCh38:
- Chr10:86876056
| BMPR1A | Y14fs | not provided | Likely pathogenic
(Jun 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88635814-88635815
- GRCh38:
- Chr10:86876057-86876058
| BMPR1A | Y14fs | Juvenile polyposis syndrome, not provided | Pathogenic/Likely pathogenic
(May 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88635817-88635820
- GRCh38:
- Chr10:86876060-86876063
| BMPR1A | L15fs | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
| Pathogenic
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88635839
- GRCh38:
- Chr10:86876082
| BMPR1A | Q22* | not provided, Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88635842
- GRCh38:
- Chr10:86876085
| BMPR1A | G23R | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Dec 20, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649818
- GRCh38:
- Chr10:86890061
| BMPR1A | | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Sep 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88649818
- GRCh38:
- Chr10:86890061
| BMPR1A | | Hereditary cancer-predisposing syndrome | Pathogenic
(May 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649847-88649848
- GRCh38:
- Chr10:86890090-86890091
| BMPR1A | T33fs | Juvenile polyposis syndrome | Pathogenic
(Nov 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649861-88649862
- GRCh38:
- Chr10:86890104-86890105
| BMPR1A | D38fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 26, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649861-88649862
- GRCh38:
- Chr10:86890104-86890105
| BMPR1A | | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Dec 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649862
- GRCh38:
- Chr10:86890105
| BMPR1A | D38fs | Juvenile polyposis syndrome | Pathogenic
(Jan 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649866-88649867
- GRCh38:
- Chr10:86890109-86890110
| BMPR1A | S39fs | Generalized juvenile polyposis/juvenile polyposis coli | Likely pathogenic
(Jul 24, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr10:88649872-88649881
- GRCh38:
- Chr10:86890115-86890124
| BMPR1A | K43fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649875-88649885
- GRCh38:
- Chr10:86890118-86890128
| BMPR1A | K43fs | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | Pathogenic
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88649883-88649884
- GRCh38:
- Chr10:86890126-86890127
| BMPR1A | E45fs | Juvenile polyposis syndrome | Pathogenic
(Feb 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649890
- GRCh38:
- Chr10:86890133
| BMPR1A | G47* | Juvenile polyposis syndrome | Pathogenic
(Nov 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649893-88649894
- GRCh38:
- Chr10:86890136-86890137
| BMPR1A | T49fs | not provided | Likely pathogenic
(Apr 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649901
- GRCh38:
- Chr10:86890144
| BMPR1A | A51fs | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Oct 22, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649904-88649913
- GRCh38:
- Chr10:86890147-86890156
| BMPR1A | E53fs | Juvenile polyposis syndrome | Pathogenic
(Aug 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649910
- GRCh38:
- Chr10:86890153
| BMPR1A | D54fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649922
- GRCh38:
- Chr10:86890165
| BMPR1A | | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88649927
- GRCh38:
- Chr10:86890170
| BMPR1A | L59* | Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Sep 4, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88649934-88649935
- GRCh38:
- Chr10:86890177-86890178
| BMPR1A | C63fs | Juvenile polyposis syndrome | Pathogenic
(Jul 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649940
- GRCh38:
- Chr10:86890183
| BMPR1A | C63* | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649943-88649944
- GRCh38:
- Chr10:86890186-86890187
| BMPR1A | G65fs | Juvenile polyposis syndrome | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649948-88649949
- GRCh38:
- Chr10:86890191-86890192
| BMPR1A | D69fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 22, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649960-88649975
- GRCh38:
- Chr10:86890203-86890218
| BMPR1A | | Juvenile polyposis syndrome | Pathogenic
(Oct 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649965-88649966
- GRCh38:
- Chr10:86890208-86890209
| BMPR1A | N73* | Hereditary cancer-predisposing syndrome | Pathogenic
(May 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88649982
- GRCh38:
- Chr10:86890225
| BMPR1A | | Juvenile polyposis syndrome | Likely pathogenic
(Aug 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651883
- GRCh38:
- Chr10:86892126
| BMPR1A | | Juvenile polyposis syndrome | Likely pathogenic
(Apr 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651896
- GRCh38:
- Chr10:86892139
| BMPR1A | C82fs | Juvenile polyposis syndrome | Pathogenic
(Jul 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651896-88651900
- GRCh38:
- Chr10:86892139-86892143
| BMPR1A | F83fs | Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651898
- GRCh38:
- Chr10:86892141
| BMPR1A | C82F | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Sep 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651899
- GRCh38:
- Chr10:86892142
| BMPR1A | C82* | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 16, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651915
- GRCh38:
- Chr10:86892158
| BMPR1A | E88* | not provided, Hereditary cancer-predisposing syndrome | Pathogenic
(May 3, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88651924
- GRCh38:
- Chr10:86892167
| BMPR1A | Q91* | Hereditary cancer-predisposing syndrome | Pathogenic
(May 24, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651925-88651926
- GRCh38:
- Chr10:86892168-86892169
| BMPR1A | E93fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651926
- GRCh38:
- Chr10:86892169
| BMPR1A | G92fs | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | Pathogenic
(Apr 8, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88651938-88651939
- GRCh38:
- Chr10:86892181-86892182
| BMPR1A | A97fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651948
- GRCh38:
- Chr10:86892191
| BMPR1A | G71R, G99R | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Feb 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651952
- GRCh38:
- Chr10:86892195
| BMPR1A | C100Y, C72Y | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Sep 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651953
- GRCh38:
- Chr10:86892196
| BMPR1A | C100*, C72* | Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651962
- GRCh38:
- Chr10:86892205
| BMPR1A | Y103* | Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 25, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651978
- GRCh38:
- Chr10:86892221
| BMPR1A | Q109fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88651988
- GRCh38:
- Chr10:86892231
| BMPR1A | | Juvenile polyposis syndrome | Likely pathogenic
(Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659555
- GRCh38:
- Chr10:86899798
| BMPR1A | S113fs | Juvenile polyposis syndrome | Pathogenic
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659563-88659564
- GRCh38:
- Chr10:86899806-86899807
| BMPR1A | Q117fs | Juvenile polyposis syndrome | Pathogenic
(Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659573-88659576
- GRCh38:
- Chr10:86899816-86899819
| BMPR1A | R120fs | Juvenile polyposis syndrome | Pathogenic
(Apr 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659576
- GRCh38:
- Chr10:86899819
| BMPR1A | T121fs | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic
(Mar 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659579-88659580
- GRCh38:
- Chr10:86899822-86899823
| BMPR1A | I122fs | Juvenile polyposis syndrome | Pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659579-88659597
- GRCh38:
- Chr10:86899822-86899840
| BMPR1A | E123fs | Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Oct 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659580
- GRCh38:
- Chr10:86899823
| BMPR1A | | Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659584
- GRCh38:
- Chr10:86899827
| BMPR1A | E123fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 23, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659585
- GRCh38:
- Chr10:86899828
| BMPR1A | E123fs | not provided | Pathogenic
(Feb 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659587
- GRCh38:
- Chr10:86899830
| BMPR1A | C124S | Juvenile polyposis syndrome | Likely pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659587
- GRCh38:
- Chr10:86899830
| BMPR1A | C124R | Hereditary cancer-predisposing syndrome, not provided | Pathogenic/Likely pathogenic
(Feb 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659588
- GRCh38:
- Chr10:86899831
| BMPR1A | C124Y | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | Likely pathogenic
(Oct 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659589
- GRCh38:
- Chr10:86899832
| BMPR1A | C125fs | not provided | Pathogenic
(Aug 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659590
- GRCh38:
- Chr10:86899833
| BMPR1A | C125G | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 10, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659605
- GRCh38:
- Chr10:86899848
| BMPR1A | C130R | Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 19, 2012) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659611
- GRCh38:
- Chr10:86899854
| BMPR1A | Q132* | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | Pathogenic
(Feb 18, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659620-88659621
- GRCh38:
- Chr10:86899863-86899864
| BMPR1A | P136fs | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659632
- GRCh38:
- Chr10:86899875
| BMPR1A | P140fs | Juvenile polyposis syndrome | Pathogenic
(Nov 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659636-88659637
- GRCh38:
- Chr10:86899879-86899880
| BMPR1A | P140fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659637
- GRCh38:
- Chr10:86899880
| BMPR1A | V141fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Apr 18, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659648
- GRCh38:
- Chr10:86899891
| BMPR1A | | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | Pathogenic
(Feb 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659783
- GRCh38:
- Chr10:86900026
| BMPR1A | | Juvenile polyposis syndrome | Likely pathogenic
(Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659794-88659811
- GRCh38:
- Chr10:86900037-86900054
| BMPR1A | F147fs | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659807
- GRCh38:
- Chr10:86900050
| BMPR1A | R152* | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | Pathogenic
(Jun 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659808
- GRCh38:
- Chr10:86900051
| BMPR1A | R152fs | Juvenile polyposis syndrome, not provided | Pathogenic
(Jun 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659811
- GRCh38:
- Chr10:86900054
| BMPR1A | W153* | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88659833
- GRCh38:
- Chr10:86900076
| BMPR1A | A161fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 24, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659850
- GRCh38:
- Chr10:86900093
| BMPR1A | A166fs | Juvenile polyposis syndrome | Pathogenic
(May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659884
- GRCh38:
- Chr10:86900127
| BMPR1A | | Juvenile polyposis syndrome | Likely pathogenic
(May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88659886
- GRCh38:
- Chr10:86900129
| BMPR1A | | Juvenile polyposis syndrome | Pathogenic
(Aug 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88671987-88677093
- GRCh38:
- Chr10:86912230-86917336
| BMPR1A | | Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli | Pathogenic
(Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88671996
- GRCh38:
- Chr10:86912239
| BMPR1A | | Polyposis syndrome, hereditary mixed, 2, Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
| Likely pathogenic
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88671998-88671999
- GRCh38:
- Chr10:86912241-86912242
| BMPR1A | Y179fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88672006
- GRCh38:
- Chr10:86912249
| BMPR1A | C180* | not provided | Pathogenic
(Apr 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88672017
- GRCh38:
- Chr10:86912260
| BMPR1A | S184* | Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome | Pathogenic
(Feb 17, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88672031-88672032
- GRCh38:
- Chr10:86912274-86912275
| BMPR1A | Y189* | Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome | Pathogenic
(Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:88672033
- GRCh38:
- Chr10:86912276
| BMPR1A | Y189* | Juvenile polyposis syndrome | Pathogenic
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:88672041-88672042
- GRCh38:
- Chr10:86912284-86912285
| BMPR1A | L193fs | Juvenile polyposis syndrome | Pathogenic
(Apr 8, 2022) | criteria provided, single submitter |