| - GRCh37:
- Chr1:161284190-161332229
- GRCh38:
- Chr1:161314400-161362439
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Dec 4, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284196
- GRCh38:
- Chr1:161314406
| SDHC | M1L | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284196
- GRCh38:
- Chr1:161314406
| SDHC | M1L | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284196
- GRCh38:
- Chr1:161314406
| SDHC | M1V | Paragangliomas 3, Gastrointestinal stromal tumor, not provided, Hereditary cancer-predisposing syndrome, Paragangliomas 3 | Pathogenic (Jul 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161284197
- GRCh38:
- Chr1:161314407
| SDHC | M1R | Gastrointestinal stromal tumor, Paragangliomas 3 | Likely pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284198
- GRCh38:
- Chr1:161314408
| SDHC | M1I | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284201
- GRCh38:
- Chr1:161314411
| SDHC | A3fs | Hereditary cancer-predisposing syndrome | Pathogenic (May 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284211-161284212
- GRCh38:
- Chr1:161314421-161314422
| SDHC | R7*, S7* | not provided | Pathogenic (Oct 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284216
- GRCh38:
- Chr1:161314426
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Likely pathogenic (Feb 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161293401-161293405
- GRCh38:
- Chr1:161323611-161323615
| SDHC | | Hereditary pheochromocytoma-paraganglioma | Likely pathogenic (Apr 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161293402
- GRCh38:
- Chr1:161323612
| SDHC | | not provided, Paragangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161293403
- GRCh38:
- Chr1:161323613
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Likely pathogenic (May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161293426
- GRCh38:
- Chr1:161323636
| SDHC | R15* | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 3, not provided, Hereditary pheochromocytoma-paraganglioma, Paragangliomas 3
| Pathogenic (Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161293430
- GRCh38:
- Chr1:161323640
| SDHC | H17fs | Paragangliomas 3 | Pathogenic (Jan 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161293461
- GRCh38:
- Chr1:161323671
| SDHC | | Paragangliomas 3 | Likely pathogenic (Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161293461
- GRCh38:
- Chr1:161323671
| SDHC | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 3
| Likely pathogenic (Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161298184
- GRCh38:
- Chr1:161328394
| SDHC | | not provided | Likely pathogenic (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298185
- GRCh38:
- Chr1:161328395
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Likely pathogenic (Jan 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298185
- GRCh38:
- Chr1:161328395
| SDHC | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298193
- GRCh38:
- Chr1:161328403
| SDHC | P29fs, P10fs | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Dec 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298203-161298204
- GRCh38:
- Chr1:161328413-161328414
| SDHC | A34fs, A15fs | Hereditary cancer-predisposing syndrome | Pathogenic (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298226
- GRCh38:
- Chr1:161328436
| SDHC | R40fs, R21fs, R3fs | Hereditary cancer-predisposing syndrome | Pathogenic (Dec 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298232
- GRCh38:
- Chr1:161328442
| SDHC | W42fs, W23fs, W5fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Feb 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298268
- GRCh38:
- Chr1:161328478
| SDHC | P17S, P35S, P54S | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jan 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298279-161298302
- GRCh38:
- Chr1:161328489-161328512
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Likely pathogenic (Oct 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298283
- GRCh38:
- Chr1:161328493
| SDHC | Y59fs, Y22fs, Y40fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Jan 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298288
- GRCh38:
- Chr1:161328498
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Likely pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298288
- GRCh38:
- Chr1:161328498
| SDHC | | not provided, Gastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome | Likely pathogenic (Feb 4, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161299063-161326575
- GRCh38:
- Chr1:161329273-161356785
| SDHC | | See cases | Likely pathogenic (Mar 10, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr1:161310382
- GRCh38:
- Chr1:161340592
| SDHC | | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 3
| Likely pathogenic (Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161310384-161310445
- GRCh38:
- Chr1:161340594-161340655
| SDHC | | Paragangliomas 3 | Likely pathogenic (Jun 12, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310386
- GRCh38:
- Chr1:161340596
| SDHC | W61fs, W8fs, W27fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310406
- GRCh38:
- Chr1:161340616
| SDHC | S15P, S34P, S68P, S108P, S31P, S49P | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jan 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310417
- GRCh38:
- Chr1:161340627
| SDHC | R19fs, R38fs, R72fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310419
- GRCh38:
- Chr1:161340629
| SDHC | R38fs, R72fs, R19fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310419
- GRCh38:
- Chr1:161340629
| SDHC | R72L, R19L, R38L, R112L, R35L, R53L | Hereditary cancer-predisposing syndrome | Pathogenic (Dec 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310423-161310424
- GRCh38:
- Chr1:161340633-161340634
| SDHC | T21fs, T74fs, T40fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310427
- GRCh38:
- Chr1:161340637
| SDHC | G75R, G22R, G41R, G38R, G115R, G56R | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jul 20, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310428
- GRCh38:
- Chr1:161340638
| SDHC | G75D, G22D, G41D, G56D, G38D, G115D | Paragangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic (Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161310434-161310435
- GRCh38:
- Chr1:161340644-161340645
| SDHC | L78fs, L25fs, L44fs | Gastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome
| Pathogenic (Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161310446
- GRCh38:
- Chr1:161340656
| SDHC | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Mar 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310446
- GRCh38:
- Chr1:161340656
| SDHC | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Aug 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326457-161332233
- GRCh38:
- Chr1:161356667-161362443
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Apr 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326457-161326640
- GRCh38:
- Chr1:161356667-161356850
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326465
- GRCh38:
- Chr1:161356675
| SDHC | | Hereditary cancer-predisposing syndrome | Likely pathogenic (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326467-161326630
- GRCh38:
- Chr1:161356677-161356840
| SDHC | | Paragangliomas 3 | Pathogenic (Jun 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326470-161326471
- GRCh38:
- Chr1:161356680-161356681
| SDHC | L31fs, L50fs, L84fs, L48fs, L63fs, L124fs, L47fs, L65fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Oct 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326471-161326472
- GRCh38:
- Chr1:161356681-161356682
| SDHC | S30fs, S83fs, S49fs, S123fs, S47fs, S62fs, S64fs, S46fs | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Jan 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326474-161326477
- GRCh38:
- Chr1:161356684-161356687
| SDHC | F32fs, F51fs, F85fs, F125fs, F48fs, F66fs, F64fs, F49fs | Hereditary cancer-predisposing syndrome | Pathogenic (Oct 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326500-161326501
- GRCh38:
- Chr1:161356710-161356711
| SDHC | G41fs, G60fs, G94fs, G134fs, G58fs, G57fs, G75fs, G73fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326510-161326511
- GRCh38:
- Chr1:161356720-161356721
| SDHC | E63*, E97*, E44*, E60*, E61*, E76*, E78*, E137* | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326574-161326575
- GRCh38:
- Chr1:161356784-161356785
| SDHC | K64fs, K83fs, K117fs, K80fs, K98fs, K157fs, K81fs, K96fs | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326598-161326613
- GRCh38:
- Chr1:161356808-161356823
| SDHC | Y126fs, Y92fs, Y73fs, Y105fs, Y107fs, Y89fs, Y90fs, Y166fs | Gastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome
| Pathogenic (Dec 24, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326599
- GRCh38:
- Chr1:161356809
| SDHC | M125R, M91R, M72R, M89R, M104R, M106R, M165R, M88R | Gastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326600-161326601
- GRCh38:
- Chr1:161356810-161356811
| SDHC | Y126fs, Y73fs, Y92fs, Y107fs, Y166fs, Y89fs, Y90fs, Y105fs | Hereditary cancer-predisposing syndrome | Pathogenic (Jan 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326602
- GRCh38:
- Chr1:161356812
| SDHC | Y126C, Y73C, Y92C, Y105C, Y166C, Y90C, Y107C, Y89C | Paragangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome, Paragangliomas 3, not provided | Pathogenic/Likely pathogenic (Sep 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326604
- GRCh38:
- Chr1:161356814
| SDHC | H127Y, H93Y, H74Y, H106Y, H108Y, H167Y, H90Y, H91Y | Paragangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
| Pathogenic (Jan 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326605
- GRCh38:
- Chr1:161356815
| SDHC | H127R, H74R, H93R, H106R, H167R, H91R, H108R, H90R | Gastrointestinal stromal tumor, Paragangliomas 3, not provided, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Dec 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326611
- GRCh38:
- Chr1:161356821
| SDHC | W129*, W76*, W95*, W108*, W169*, W92*, W110*, W93* | Paragangliomas 3, Gastrointestinal stromal tumor, Paragangliomas 3
| Pathogenic (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326612
- GRCh38:
- Chr1:161356822
| SDHC | W129*, W95*, W76*, W108*, W169*, W92*, W93*, W110* | Paragangliomas 3, Gastrointestinal stromal tumor, not provided, Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic (Dec 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326622
- GRCh38:
- Chr1:161356832
| SDHC | R133*, R80*, R99*, R114*, R173*, R96*, R97*, R112* | Gastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 3, Carney-Stratakis syndrome, not provided, Hereditary pheochromocytoma-paraganglioma, Paragangliomas 3, Carney-Stratakis syndrome | Pathogenic (Oct 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326630
- GRCh38:
- Chr1:161356840
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Likely pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326631
- GRCh38:
- Chr1:161356841
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
| Pathogenic (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326631
- GRCh38:
- Chr1:161356841
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Aug 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326631
- GRCh38:
- Chr1:161356841
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome, not provided | Pathogenic (Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161332119-161332223
- GRCh38:
- Chr1:161362329-161362433
| SDHC | | Hereditary pheochromocytoma-paraganglioma | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:161332152
- GRCh38:
- Chr1:161362362
| SDHC | P58L, P92L, Q113*, Q147*, Q94*, Q126*, Q187*, P73L, Q111*, Q110*, Q128* | not provided | Likely pathogenic (Feb 27, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161332165-161332168
- GRCh38:
- Chr1:161362375-161362378
| SDHC | W63*, W78*, W97* | Hereditary cancer-predisposing syndrome | Likely pathogenic (Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284158-161284225
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326457-161326640
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Likely pathogenic (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161298176-161298297
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310374-161332308
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161326457-161332308
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Aug 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161332109-161332308
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Oct 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310374-161310455
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161293394-161293470
| SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310374-161326640
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161284158-161332308
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Oct 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161293394-161298297
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Pathogenic (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161310374-161310455
| SDHC | | Gastrointestinal stromal tumor, Paragangliomas 3 | Likely pathogenic (Oct 3, 2022) | criteria provided, single submitter |
| | SDHC | | Paragangliomas 3, Gastrointestinal stromal tumor | Pathogenic (Feb 9, 2016) | criteria provided, single submitter |