| - GRCh37:
- Chr1:17345217-17380665
- GRCh38:
- Chr1:17018722-17054170
| SDHB | | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Pathogenic
(Sep 15, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345366-17345463
- GRCh38:
- Chr1:17018871-17018968
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic
(Oct 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345366-17380524
- GRCh38:
- Chr1:17018871-17054029
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic
(Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345370-17359646
- GRCh38:
- Chr1:17018875-17033151
| SDHB | | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Pathogenic
(Jan 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345370-17371389
- GRCh38:
- Chr1:17018875-17044894
| SDHB | | Paragangliomas 4 | Pathogenic
(Apr 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345413
- GRCh38:
- Chr1:17018918
| SDHB | M269fs | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345418
- GRCh38:
- Chr1:17018923
| SDHB | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Dec 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345431-17345432
- GRCh38:
- Chr1:17018936-17018937
| SDHB | I263fs | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma, not provided | Likely pathogenic
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17345433-17345434
- GRCh38:
- Chr1:17018938-17018939
| SDHB | I263fs | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Likely pathogenic
(May 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17345438-17345439
- GRCh38:
- Chr1:17018943-17018944
| SDHB | K261fs | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Likely pathogenic
(Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349067-17349125
- GRCh38:
- Chr1:17022572-17022630
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Pathogenic
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349070-17349107
- GRCh38:
- Chr1:17022575-17022612
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Pathogenic
(Aug 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349099-17349112
- GRCh38:
- Chr1:17022604-17022617
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Likely pathogenic
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349102
- GRCh38:
- Chr1:17022607
| SDHB | | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Pathogenic
(Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349106-17349107
- GRCh38:
- Chr1:17022611-17022612
| SDHB | | Hereditary pheochromocytoma-paraganglioma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:17349110
- GRCh38:
- Chr1:17022615
| SDHB | C253Y | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stromal tumor | Likely pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349122
- GRCh38:
- Chr1:17022627
| SDHB | C249Y | not provided | Likely pathogenic
(Feb 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349124
- GRCh38:
- Chr1:17022629
| SDHB | N248K | Hereditary cancer-predisposing syndrome, Paraganglioma, Gastrointestinal stromal tumor,
Paragangliomas 4, Pheochromocytoma | Likely pathogenic
(Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349132
- GRCh38:
- Chr1:17022637
| SDHB | I246F | Hereditary pheochromocytoma-paraganglioma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:17349139
- GRCh38:
- Chr1:17022644
| SDHB | C243W | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Likely pathogenic
(Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349140
- GRCh38:
- Chr1:17022645
| SDHB | C243F | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Jun 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349141
- GRCh38:
- Chr1:17022646
| SDHB | C225R, C243R | Hereditary cancer-predisposing syndrome | Pathogenic
(Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349143
- GRCh38:
- Chr1:17022648
| SDHB | R242H | SDHB-Related Disorders, Gastrointestinal stromal tumor, Pheochromocytoma,
Paragangliomas 4, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma, Paragangliomas 4 | Pathogenic/Likely pathogenic
(Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349144
- GRCh38:
- Chr1:17022649
| SDHB | R242S | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma,
not provided, Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349144
- GRCh38:
- Chr1:17022649
| SDHB | R242C | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma, not provided | Pathogenic
(Mar 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349147-17349150
- GRCh38:
- Chr1:17022652-17022655
| SDHB | L240fs | not provided, Hereditary cancer-predisposing syndrome, Paragangliomas 4,
Pheochromocytoma, Gastrointestinal stromal tumor | Pathogenic
(May 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349149-17349152
- GRCh38:
- Chr1:17022654-17022657
| SDHB | S239fs | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma | Pathogenic
(Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349150-17349151
- GRCh38:
- Chr1:17022655-17022656
| SDHB | L240fs | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4,
Hereditary cancer-predisposing syndrome | Pathogenic
(Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349155
- GRCh38:
- Chr1:17022660
| SDHB | F238fs | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stromal tumor | Pathogenic
(Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349160-17349161
- GRCh38:
- Chr1:17022665-17022666
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic
(Aug 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349171
- GRCh38:
- Chr1:17022676
| SDHB | K233* | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic
(Apr 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349179-17349180
- GRCh38:
- Chr1:17022684-17022685
| SDHB | R230fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349179
- GRCh38:
- Chr1:17022684
| SDHB | R230L | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma, not provided | Pathogenic
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349179
- GRCh38:
- Chr1:17022684
| SDHB | R230H | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4,
Hereditary cancer-predisposing syndrome, Pheochromocytoma, Carney-Stratakis syndrome,
Paragangliomas 4, not provided, Paragangliomas 4,
Hereditary pheochromocytoma-paraganglioma | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349180
- GRCh38:
- Chr1:17022685
| SDHB | R230G, R212G | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Sep 24, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349180-17349181
- GRCh38:
- Chr1:17022685-17022686
| SDHB | R230fs | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349180
- GRCh38:
- Chr1:17022685
| SDHB | R230C | Paragangliomas 4, Hereditary cancer-predisposing syndrome, Paragangliomas 4,
Pheochromocytoma, Gastrointestinal stromal tumor, not provided
| Pathogenic
(Aug 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349182-17349183
- GRCh38:
- Chr1:17022687-17022688
| SDHB | E229fs | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349184-17349185
- GRCh38:
- Chr1:17022689-17022690
| SDHB | E228fs | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor,
Paragangliomas 4 | Pathogenic
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349187-17349188
- GRCh38:
- Chr1:17022692-17022693
| SDHB | T227fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349191
- GRCh38:
- Chr1:17022696
| SDHB | F226fs | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Pathogenic
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349201-17349202
- GRCh38:
- Chr1:17022706-17022707
| SDHB | | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic
(Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349207
- GRCh38:
- Chr1:17022712
| SDHB | D221fs | Renal cell carcinoma | Pathogenic
(Nov 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349214
- GRCh38:
- Chr1:17022719
| SDHB | W218* | Hereditary cancer-predisposing syndrome, not provided | Pathogenic
(Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349215
- GRCh38:
- Chr1:17022720
| SDHB | W218* | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma
| Pathogenic
(Jun 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349215
- GRCh38:
- Chr1:17022720
| SDHB | W218S | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Feb 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349218
- GRCh38:
- Chr1:17022723
| SDHB | R217L | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Likely pathogenic
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17349218
- GRCh38:
- Chr1:17022723
| SDHB | R217H | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Gastrointestinal stromal tumor,
Paragangliomas 4, Pheochromocytoma | Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349219
- GRCh38:
- Chr1:17022724
| SDHB | R217G | not provided, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma | Pathogenic
(Aug 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349219
- GRCh38:
- Chr1:17022724
| SDHB | R217C | not provided, Hereditary pheochromocytoma-paraganglioma, Paragangliomas 4,
Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17349226
- GRCh38:
- Chr1:17022731
| SDHB | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Mar 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350462-17350468
- GRCh38:
- Chr1:17023967-17023973
| SDHB | | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350466
- GRCh38:
- Chr1:17023971
| SDHB | | not provided, Pheochromocytoma, Gastrointestinal stromal tumor,
Paragangliomas 4 | Pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350467
- GRCh38:
- Chr1:17023972
| SDHB | | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4,
not provided | Pathogenic
(May 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350467
- GRCh38:
- Chr1:17023972
| SDHB | | Hereditary cancer-predisposing syndrome | Likely pathogenic
(May 31, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350468
- GRCh38:
- Chr1:17023973
| SDHB | Q214H | not provided, Hereditary cancer-predisposing syndrome | Likely pathogenic
(Aug 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350470
- GRCh38:
- Chr1:17023975
| SDHB | Q214* | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 4,
Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4,
not provided, Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome,
Paragangliomas 4 | Pathogenic/Likely pathogenic
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350471
- GRCh38:
- Chr1:17023976
| SDHB | M213fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Nov 11, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350472-17350473
- GRCh38:
- Chr1:17023977-17023978
| SDHB | M213fs | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Pathogenic
(May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350487
- GRCh38:
- Chr1:17023992
| SDHB | G190E, G208E | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor,
Paragangliomas 4 | Pathogenic/Likely pathogenic
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350487-17350488
- GRCh38:
- Chr1:17023992-17023993
| SDHB | G208fs | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Pathogenic
(Oct 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350488
- GRCh38:
- Chr1:17023993
| SDHB | G190R, G208R | Hereditary cancer-predisposing syndrome | Likely pathogenic
(May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350489-17350490
- GRCh38:
- Chr1:17023994-17023995
| SDHB | L207fs | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Pathogenic
(Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350494-17350503
- GRCh38:
- Chr1:17023999-17024008
| SDHB | G203fs | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma, not provided | Pathogenic
(May 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350500-17350501
- GRCh38:
- Chr1:17024005-17024006
| SDHB | D204fs | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma | Pathogenic
(Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350502
- GRCh38:
- Chr1:17024007
| SDHB | G203fs | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Pathogenic
(Oct 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350504-17350505
- GRCh38:
- Chr1:17024009-17024010
| SDHB | N202fs | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma | Pathogenic
(Aug 12, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350506-17350515
- GRCh38:
- Chr1:17024011-17024020
| SDHB | Y199fs | Hereditary cancer-predisposing syndrome | Pathogenic
(Dec 20, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350508
- GRCh38:
- Chr1:17024013
| SDHB | W201* | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Pathogenic
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350510
- GRCh38:
- Chr1:17024015
| SDHB | W200C | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stromal tumor, Paragangliomas 4, not provided,
Hereditary pheochromocytoma-paraganglioma | Pathogenic
(Jan 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350510
- GRCh38:
- Chr1:17024015
| SDHB | W200* | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stromal tumor, Hereditary pheochromocytoma-paraganglioma, Paragangliomas 4
| Pathogenic/Likely pathogenic
(Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350511-17350512
- GRCh38:
- Chr1:17024016-17024017
| SDHB | W200fs | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Pathogenic
(Jun 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350512
- GRCh38:
- Chr1:17024017
| SDHB | W200fs | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Pathogenic
(Dec 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350512
- GRCh38:
- Chr1:17024017
| SDHB | W200R | Paragangliomas 4, Gastrointestinal stromal tumor, Pheochromocytoma,
Hereditary cancer-predisposing syndrome | Likely pathogenic
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350513
- GRCh38:
- Chr1:17024018
| SDHB | Y181*, Y199* | not provided | Pathogenic
(Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350519
- GRCh38:
- Chr1:17024024
| SDHB | S198fs | Cowden syndrome, Gastrointestinal stromal tumor, SDHB-Related Disorders,
Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 4,
Pheochromocytoma | Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350520
- GRCh38:
- Chr1:17024025
| SDHB | P197R | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome, not provided | Pathogenic/Likely pathogenic
(Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350521
- GRCh38:
- Chr1:17024026
| SDHB | P197S | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Likely pathogenic
(Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350523
- GRCh38:
- Chr1:17024028
| SDHB | C196Y | Hereditary cancer-predisposing syndrome, not provided, Paragangliomas 4,
Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350524
- GRCh38:
- Chr1:17024029
| SDHB | C196R | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma
| Likely pathogenic
(Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350535
- GRCh38:
- Chr1:17024040
| SDHB | C192Y | Gastrointestinal stromal tumor, Paragangliomas 4, Pheochromocytoma,
Hereditary cancer-predisposing syndrome | Pathogenic
(Aug 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350536
- GRCh38:
- Chr1:17024041
| SDHB | C192R | Hereditary cancer-predisposing syndrome, Paragangliomas 4, Pheochromocytoma,
Gastrointestinal stromal tumor, not provided | Pathogenic
(May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350538
- GRCh38:
- Chr1:17024043
| SDHB | C191Y | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4,
Paragangliomas 4, Renal neoplasm | Pathogenic/Likely pathogenic
(Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350543
- GRCh38:
- Chr1:17024048
| SDHB | C189W | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Likely pathogenic
(Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350544
- GRCh38:
- Chr1:17024049
| SDHB | C171Y, C189Y | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Likely pathogenic
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350544
- GRCh38:
- Chr1:17024049
| SDHB | C189F | Pheochromocytoma, Paragangliomas 4, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17350553
- GRCh38:
- Chr1:17024058
| SDHB | C186Y | Gastrointestinal stromal tumor, Pheochromocytoma, Paragangliomas 4
| Pathogenic
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350557
- GRCh38:
- Chr1:17024062
| SDHB | E185* | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350570
- GRCh38:
- Chr1:17024075
| SDHB | | Hereditary cancer-predisposing syndrome | Pathogenic
(Jun 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17350571
- GRCh38:
- Chr1:17024076
| SDHB | | SDHB-Related Disorders, Gastrointestinal stromal tumor, Pheochromocytoma,
Paragangliomas 4, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma | Pathogenic/Likely pathogenic
(Apr 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:17354231-17354244
- GRCh38:
- Chr1:17027736-17027749
| SDHB | | Paragangliomas 4, Paragangliomas 4, Gastrointestinal stromal tumor,
Pheochromocytoma | Likely pathogenic
(Jul 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17354243
- GRCh38:
- Chr1:17027748
| SDHB | | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4,
Paragangliomas 4 | Likely pathogenic
(Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17354244
- GRCh38:
- Chr1:17027749
| SDHB | | Hereditary pheochromocytoma-paraganglioma | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:17354245
- GRCh38:
- Chr1:17027750
| SDHB | L180P, L162P | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17354246-17354247
- GRCh38:
- Chr1:17027751-17027752
| SDHB | L180fs | not provided | Pathogenic
(Feb 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17354257-17354261
- GRCh38:
- Chr1:17027762-17027766
| SDHB | | Hereditary pheochromocytoma-paraganglioma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:17354258
- GRCh38:
- Chr1:17027763
| SDHB | E176* | Hereditary cancer-predisposing syndrome | Pathogenic
(Jul 3, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17354260-17354261
- GRCh38:
- Chr1:17027765-17027766
| SDHB | E175fs | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4
| Pathogenic
(Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17354279
- GRCh38:
- Chr1:17027784
| SDHB | Q169* | Paragangliomas 4, Pheochromocytoma, Gastrointestinal stromal tumor
| Pathogenic
(Mar 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:17354282
- GRCh38:
- Chr1:17027787
| SDHB | Q168* | Pheochromocytoma, Gastrointestinal stromal tumor, Paragangliomas 4,
Hereditary cancer-predisposing syndrome, Paragangliomas 4 | Pathogenic
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |