| - GRCh37:
- Chr16:23613502-23618095
- GRCh38:
- Chr16:23602181-23606774
| PALB2 | | Familial cancer of breast | Likely pathogenic (Jun 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614483-23652678
- GRCh38:
- Chr16:23603162-23641357
| PALB2 | | Familial cancer of breast | Pathogenic (Jun 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614483-23614990
- GRCh38:
- Chr16:23603162-23603669
| PALB2 | | Familial cancer of breast | Pathogenic (Jan 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614770-23625422
- GRCh38:
- Chr16:23603449-23614101
| PALB2 | | Familial cancer of breast | Pathogenic (Dec 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614770-23615000
- GRCh38:
- Chr16:23603449-23603679
| PALB2 | | Familial cancer of breast | Pathogenic (Jul 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614770-23619343
- GRCh38:
- Chr16:23603449-23608022
| PALB2 | | Familial cancer of breast | Pathogenic (Jul 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614770-23637728
- GRCh38:
- Chr16:23603449-23626407
| PALB2 | | Familial cancer of breast | Pathogenic (Apr 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614774-23625418
- GRCh38:
- Chr16:23603453-23614097
| PALB2 | | Familial cancer of breast | Pathogenic (Feb 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614778-23615140
- GRCh38:
- Chr16:23603457-23603819
| PALB2 | | Malignant tumor of breast | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:23614779-23619333
- GRCh38:
- Chr16:23603458-23608012
| PALB2 | | Hereditary cancer-predisposing syndrome | Pathogenic (Nov 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614779-23625412
- GRCh38:
- Chr16:23603458-23614091
| PALB2 | | Familial cancer of breast | Pathogenic (Aug 11, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614779-23614990
- GRCh38:
- Chr16:23603458-23603669
| PALB2 | | Familial cancer of breast | Pathogenic (May 17, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614780-23619333
- GRCh38:
- Chr16:23603459-23608012
| PALB2 | | Familial cancer of breast | Pathogenic (Oct 3, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614780-23637718
- GRCh38:
- Chr16:23603459-23626397
| PALB2 | | Familial cancer of breast | Pathogenic (Nov 25, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614792
- GRCh38:
- Chr16:23603471
| PALB2 | Y1183* | Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, not provided | Pathogenic (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614792
- GRCh38:
- Chr16:23603471
| PALB2 | Y1183* | PALB2-Related Disorders, Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast, Fanconi anemia complementation group N | Pathogenic/Likely pathogenic (Nov 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614797-23614798
- GRCh38:
- Chr16:23603476-23603477
| PALB2 | V1182fs | Familial cancer of breast | Pathogenic (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614798
- GRCh38:
- Chr16:23603477
| PALB2 | F1181fs | Familial cancer of breast | Pathogenic (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614801-23614813
- GRCh38:
- Chr16:23603480-23603492
| PALB2 | K1176fs | Familial cancer of breast | Pathogenic (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614812-23614818
- GRCh38:
- Chr16:23603491-23603497
| PALB2 | Q1175fs | Malignant tumor of breast | Likely pathogenic (Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614818
- GRCh38:
- Chr16:23603497
| PALB2 | Q1175* | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic (Feb 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614833-23614834
- GRCh38:
- Chr16:23603512-23603513
| PALB2 | H1170fs | PALB2-Related Disorders, Hereditary cancer-predisposing syndrome, not provided, Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Fanconi anemia complementation group N
| Pathogenic/Likely pathogenic (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614837-23614840
- GRCh38:
- Chr16:23603516-23603519
| PALB2 | D1168fs | Familial cancer of breast | Pathogenic (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614839-23614843
- GRCh38:
- Chr16:23603518-23603522
| PALB2 | T1167fs | Familial cancer of breast | Pathogenic (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614839-23614840
- GRCh38:
- Chr16:23603518-23603519
| PALB2 | | Familial cancer of breast | Pathogenic (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614843-23614844
- GRCh38:
- Chr16:23603522-23603523
| PALB2 | G1166fs | Familial cancer of breast, not provided | Pathogenic (May 13, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:23614844
- GRCh38:
- Chr16:23603523
| PALB2 | G1166fs | Hereditary cancer-predisposing syndrome | Pathogenic (Oct 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614846-23614847
- GRCh38:
- Chr16:23603525-23603526
| PALB2 | T1167fs | Familial cancer of breast | Pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614847
- GRCh38:
- Chr16:23603526
| PALB2 | S1165* | Familial cancer of breast | Pathogenic (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614849
- GRCh38:
- Chr16:23603528
| PALB2 | W1164* | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Pathogenic/Likely pathogenic (May 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614850
- GRCh38:
- Chr16:23603529
| PALB2 | W1164* | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Pathogenic/Likely pathogenic (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614858
- GRCh38:
- Chr16:23603537
| PALB2 | F1161fs | Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome | Likely pathogenic (Nov 2, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614864
- GRCh38:
- Chr16:23603543
| PALB2 | W1159* | Familial cancer of breast | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614864-23614865
- GRCh38:
- Chr16:23603543-23603544
| PALB2 | W1159* | Hereditary cancer-predisposing syndrome | Pathogenic (Apr 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614865
- GRCh38:
- Chr16:23603544
| PALB2 | W1159* | Hereditary cancer-predisposing syndrome | Pathogenic (Apr 22, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614866
- GRCh38:
- Chr16:23603545
| PALB2 | W1159fs | Familial cancer of breast | Pathogenic (May 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614872
- GRCh38:
- Chr16:23603551
| PALB2 | Q1157* | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic (May 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614876-23614877
- GRCh38:
- Chr16:23603555-23603556
| PALB2 | | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic (Oct 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614882-23614888
- GRCh38:
- Chr16:23603561-23603567
| PALB2 | P1152fs | Hereditary cancer-predisposing syndrome | Pathogenic (Oct 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614884-23614885
- GRCh38:
- Chr16:23603563-23603564
| PALB2 | P1153fs | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Pathogenic (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614886
- GRCh38:
- Chr16:23603565
| PALB2 | P1152fs | Familial cancer of breast | Pathogenic (Oct 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614891-23614893
- GRCh38:
- Chr16:23603570-23603572
| PALB2 | L1150fs | Hereditary cancer-predisposing syndrome | Likely pathogenic (Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614894-23614895
- GRCh38:
- Chr16:23603573-23603574
| PALB2 | L1150fs | Familial cancer of breast | Likely pathogenic (Jun 30, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr16:23614900
- GRCh38:
- Chr16:23603579
| PALB2 | C1147* | not provided, Hereditary cancer-predisposing syndrome, Familial cancer of breast
| Pathogenic (Jan 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614905
- GRCh38:
- Chr16:23603584
| PALB2 | Q1146* | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Pathogenic (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614912-23614915
- GRCh38:
- Chr16:23603591-23603594
| PALB2 | L1142fs | Hereditary cancer-predisposing syndrome, Familial cancer of breast, not provided
| Pathogenic (Jan 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614914-23614915
- GRCh38:
- Chr16:23603593-23603594
| PALB2 | L1143fs | Hereditary cancer-predisposing syndrome, Familial cancer of breast, not provided
| Pathogenic (Sep 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614916
- GRCh38:
- Chr16:23603595
| PALB2 | L1142* | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Pathogenic (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614916
- GRCh38:
- Chr16:23603595
| PALB2 | L1142* | not provided, Familial cancer of breast | Pathogenic (Aug 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614916
- GRCh38:
- Chr16:23603595
| PALB2 | L1142fs | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614921
- GRCh38:
- Chr16:23603600
| PALB2 | W1140* | Familial cancer of breast | Pathogenic (Jul 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614923
- GRCh38:
- Chr16:23603602
| PALB2 | W1140fs | Familial cancer of breast | Likely pathogenic (Jul 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614934
- GRCh38:
- Chr16:23603613
| PALB2 | T1136fs | Familial cancer of breast | Pathogenic (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614936-23614945
- GRCh38:
- Chr16:23603615-23603624
| PALB2 | T1133fs | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Pathogenic (Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614946
- GRCh38:
- Chr16:23603625
| PALB2 | L1132* | Hereditary cancer-predisposing syndrome | Pathogenic (Mar 2, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614946-23614967
- GRCh38:
- Chr16:23603625-23603646
| PALB2 | | not provided, Familial cancer of breast, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic (Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614949
- GRCh38:
- Chr16:23603628
| PALB2 | I1131fs | Hereditary cancer-predisposing syndrome | Pathogenic (Jan 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614979
- GRCh38:
- Chr16:23603658
| PALB2 | | Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer, not provided, Hereditary breast ovarian cancer syndrome, Familial cancer of breast | Pathogenic/Likely pathogenic (Jan 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614983
- GRCh38:
- Chr16:23603662
| PALB2 | E1120* | Hereditary cancer-predisposing syndrome | Pathogenic (Aug 3, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23614991
- GRCh38:
- Chr16:23603670
| PALB2 | | Familial cancer of breast | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614991
- GRCh38:
- Chr16:23603670
| PALB2 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Oct 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614992
- GRCh38:
- Chr16:23603671
| PALB2 | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jan 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23614992
- GRCh38:
- Chr16:23603671
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Likely pathogenic (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619175-23619343
- GRCh38:
- Chr16:23607854-23608022
| PALB2 | | Familial cancer of breast | Likely pathogenic (Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619181
- GRCh38:
- Chr16:23607860
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Likely pathogenic (Oct 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619181
- GRCh38:
- Chr16:23607860
| PALB2 | | PALB2-Related Disorders, Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast | Pathogenic/Likely pathogenic (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619183
- GRCh38:
- Chr16:23607862
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Likely pathogenic (Oct 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619184
- GRCh38:
- Chr16:23607863
| PALB2 | | Familial cancer of breast | Pathogenic (Oct 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619185-23625412
- GRCh38:
- Chr16:23607864-23614091
| PALB2 | | Familial cancer of breast | Likely pathogenic (Nov 24, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619195
- GRCh38:
- Chr16:23607874
| PALB2 | Q1114* | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic (Jan 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619203
- GRCh38:
- Chr16:23607882
| PALB2 | P1111fs | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic (Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619211
- GRCh38:
- Chr16:23607890
| PALB2 | Y1108* | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619211
- GRCh38:
- Chr16:23607890
| PALB2 | Y1108* | not provided | Likely pathogenic (Jun 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619212
- GRCh38:
- Chr16:23607891
| PALB2 | | Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, not provided, Hereditary breast ovarian cancer syndrome, Familial cancer of breast, Fanconi anemia complementation group N | Pathogenic (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619220-23619221
- GRCh38:
- Chr16:23607899-23607900
| PALB2 | V1105fs | Lynch syndrome 1 | Likely pathogenic (Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619221-23619222
- GRCh38:
- Chr16:23607900-23607901
| PALB2 | V1105fs | Familial cancer of breast | Pathogenic (Jan 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619224
- GRCh38:
- Chr16:23607903
| PALB2 | G1104fs | Hereditary cancer-predisposing syndrome, not provided | Pathogenic (Apr 8, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619225-23619240
- GRCh38:
- Chr16:23607904-23607919
| PALB2 | T1099fs | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Pathogenic (Jan 15, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619228-23619229
- GRCh38:
- Chr16:23607907-23607908
| PALB2 | V1103fs | Familial cancer of breast | Pathogenic (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619228-23619229
- GRCh38:
- Chr16:23607907-23607908
| PALB2 | V1103fs | Hereditary cancer-predisposing syndrome, not provided, Familial cancer of breast
| Pathogenic (Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619229-23619230
- GRCh38:
- Chr16:23607908-23607909
| PALB2 | S1102fs | Familial cancer of breast | Pathogenic (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619232-23619233
- GRCh38:
- Chr16:23607911-23607912
| PALB2 | L1101fs | Familial cancer of breast, Hereditary cancer-predisposing syndrome | Pathogenic (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619234-23619238
- GRCh38:
- Chr16:23607913-23607917
| PALB2 | T1100fs | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Pathogenic (Feb 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619234-23619240
- GRCh38:
- Chr16:23607913-23607919
| PALB2 | T1099fs | not provided | Likely pathogenic (Jun 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619237-23619241
- GRCh38:
- Chr16:23607916-23607920
| PALB2 | K1098fs | Fanconi anemia complementation group N | Pathogenic (May 13, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:23619237-23619238
- GRCh38:
- Chr16:23607916-23607917
| PALB2 | T1100fs | Familial cancer of breast | Pathogenic/Likely pathogenic (Jan 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619238-23619239
- GRCh38:
- Chr16:23607917-23607918
| PALB2 | T1100fs | Familial cancer of breast | Pathogenic (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619239
- GRCh38:
- Chr16:23607918
| PALB2 | T1099fs | Familial cancer of breast | Pathogenic (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619243-23619245
- GRCh38:
- Chr16:23607922-23607924
| PALB2 | P1097fs | Hereditary cancer-predisposing syndrome | Likely pathogenic (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619246-23619249
- GRCh38:
- Chr16:23607925-23607928
| PALB2 | N1096fs | Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome, Familial cancer of breast, not provided | Pathogenic (Jan 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619249-23619250
- GRCh38:
- Chr16:23607928-23607929
| PALB2 | N1096fs | Familial cancer of breast | Pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619262-23619263
- GRCh38:
- Chr16:23607941-23607942
| PALB2 | L1092fs | Familial cancer of breast | Pathogenic (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619264
- GRCh38:
- Chr16:23607943
| PALB2 | Q1091* | not provided, Hereditary cancer-predisposing syndrome, Familial cancer of breast
| Pathogenic/Likely pathogenic (Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619267-23619268
- GRCh38:
- Chr16:23607946-23607947
| PALB2 | F1090fs | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Pathogenic (Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619272
- GRCh38:
- Chr16:23607951
| PALB2 | P1088fs | Familial cancer of breast | Pathogenic (Jun 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619277-23619286
- GRCh38:
- Chr16:23607956-23607965
| PALB2 | S1084fs | Familial cancer of breast | Pathogenic (Jun 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:23619279-23619280
- GRCh38:
- Chr16:23607958-23607959
| PALB2 | R1086fs | not provided | Pathogenic (Dec 23, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:23619279
- GRCh38:
- Chr16:23607958
| PALB2 | R1086fs | Hereditary cancer-predisposing syndrome, Familial cancer of breast | Pathogenic/Likely pathogenic (May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619279
- GRCh38:
- Chr16:23607958
| PALB2 | R1086* | Hereditary breast ovarian cancer syndrome, Breast and/or ovarian cancer, Familial cancer of breast, PALB2-Related Disorders, Hereditary cancer-predisposing syndrome, Familial cancer of breast, Fanconi anemia complementation group N, Pancreatic cancer, susceptibility to, 3, not provided, Malignant tumor of breast | Pathogenic/Likely pathogenic (Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:23619282-23619286
- GRCh38:
- Chr16:23607961-23607965
| PALB2 | | Hereditary cancer-predisposing syndrome | Pathogenic (Oct 23, 2017) | criteria provided, single submitter |