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Items: 81

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:161284190-161332229
GRCh38:
Chr1:161314400-161362439
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Dec 4, 2017)
criteria provided, single submitter
2.
GRCh37:
Chr1:161284196
GRCh38:
Chr1:161314406
SDHCM1LGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Dec 23, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr1:161284196
GRCh38:
Chr1:161314406
SDHCM1LParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Aug 6, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr1:161284196
GRCh38:
Chr1:161314406
SDHCM1VParagangliomas 3, Gastrointestinal stromal tumor, not provided,
Hereditary cancer-predisposing syndrome, Paragangliomas 3
Pathogenic
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr1:161284197
GRCh38:
Chr1:161314407
SDHCM1RGastrointestinal stromal tumor, Paragangliomas 3Likely pathogenic
(Aug 27, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr1:161284198
GRCh38:
Chr1:161314408
SDHCM1IParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Aug 30, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr1:161284201
GRCh38:
Chr1:161314411
SDHCA3fsHereditary cancer-predisposing syndromePathogenic
(May 8, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr1:161284211-161284212
GRCh38:
Chr1:161314421-161314422
SDHCR7*, S7*not providedPathogenic
(Oct 19, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr1:161284216
GRCh38:
Chr1:161314426
SDHCGastrointestinal stromal tumor, Paragangliomas 3Likely pathogenic
(Feb 12, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr1:161293401-161293405
GRCh38:
Chr1:161323611-161323615
SDHCHereditary pheochromocytoma-paragangliomaLikely pathogenic
(Apr 3, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr1:161293402
GRCh38:
Chr1:161323612
SDHCnot provided, Paragangliomas 3, Gastrointestinal stromal tumor,
Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:161293403
GRCh38:
Chr1:161323613
SDHCGastrointestinal stromal tumor, Paragangliomas 3Likely pathogenic
(May 26, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:161293426
GRCh38:
Chr1:161323636
SDHCR15*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
14.
GRCh37:
Chr1:161293430
GRCh38:
Chr1:161323640
SDHCH17fsParagangliomas 3Pathogenic
(Jan 17, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr1:161293461
GRCh38:
Chr1:161323671
SDHCParagangliomas 3Likely pathogenic
(Jan 10, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr1:161293461
GRCh38:
Chr1:161323671
SDHCHereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 3
Likely pathogenic
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:161298184
GRCh38:
Chr1:161328394
SDHCnot providedLikely pathogenic
(May 6, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr1:161298185
GRCh38:
Chr1:161328395
SDHCGastrointestinal stromal tumor, Paragangliomas 3Likely pathogenic
(Jan 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:161298185
GRCh38:
Chr1:161328395
SDHCHereditary cancer-predisposing syndromeLikely pathogenic
(Jul 1, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:161298193
GRCh38:
Chr1:161328403
SDHCP29fs, P10fsParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Dec 18, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr1:161298203-161298204
GRCh38:
Chr1:161328413-161328414
SDHCA34fs, A15fsHereditary cancer-predisposing syndromePathogenic
(Sep 12, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:161298226
GRCh38:
Chr1:161328436
SDHCR40fs, R21fs, R3fsHereditary cancer-predisposing syndromePathogenic
(Dec 24, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr1:161298232
GRCh38:
Chr1:161328442
SDHCW42fs, W23fs, W5fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Feb 26, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr1:161298268
GRCh38:
Chr1:161328478
SDHCP17S, P35S, P54SHereditary cancer-predisposing syndromeLikely pathogenic
(Jan 14, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr1:161298279-161298302
GRCh38:
Chr1:161328489-161328512
SDHCGastrointestinal stromal tumor, Paragangliomas 3Likely pathogenic
(Oct 23, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr1:161298283
GRCh38:
Chr1:161328493
SDHCY59fs, Y22fs, Y40fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Jan 17, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr1:161298288
GRCh38:
Chr1:161328498
SDHCGastrointestinal stromal tumor, Paragangliomas 3Likely pathogenic
(Aug 28, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr1:161298288
GRCh38:
Chr1:161328498
SDHCnot provided, Gastrointestinal stromal tumor, Paragangliomas 3,
Hereditary cancer-predisposing syndrome
Likely pathogenic
(Feb 4, 2020)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr1:161299063-161326575
GRCh38:
Chr1:161329273-161356785
SDHCSee casesLikely pathogenic
(Mar 10, 2014)
no assertion criteria provided
30.
GRCh37:
Chr1:161310382
GRCh38:
Chr1:161340592
SDHCHereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Paragangliomas 3
Likely pathogenic
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:161310384-161310445
GRCh38:
Chr1:161340594-161340655
SDHCParagangliomas 3Likely pathogenic
(Jun 12, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr1:161310386
GRCh38:
Chr1:161340596
SDHCW61fs, W8fs, W27fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Jan 1, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr1:161310406
GRCh38:
Chr1:161340616
SDHCS15P, S34P, S68P, S108P, S31P, S49PHereditary cancer-predisposing syndromeLikely pathogenic
(Jan 3, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr1:161310417
GRCh38:
Chr1:161340627
SDHCR19fs, R38fs, R72fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Apr 23, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr1:161310419
GRCh38:
Chr1:161340629
SDHCR38fs, R72fs, R19fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Apr 6, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr1:161310419
GRCh38:
Chr1:161340629
SDHCR72L, R19L, R38L, R112L, R35L, R53LHereditary cancer-predisposing syndromePathogenic
(Dec 16, 2020)
criteria provided, single submitter
37.
GRCh37:
Chr1:161310423-161310424
GRCh38:
Chr1:161340633-161340634
SDHCT21fs, T74fs, T40fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Oct 20, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:161310427
GRCh38:
Chr1:161340637
SDHCG75R, G22R, G41R, G38R, G115R, G56RHereditary cancer-predisposing syndromeLikely pathogenic
(Jul 20, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr1:161310428
GRCh38:
Chr1:161340638
SDHCG75D, G22D, G41D, G56D, G38D, G115DParagangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:161310434-161310435
GRCh38:
Chr1:161340644-161340645
SDHCL78fs, L25fs, L44fsGastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome
Pathogenic
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr1:161310446
GRCh38:
Chr1:161340656
SDHCHereditary cancer-predisposing syndromeLikely pathogenic
(Mar 16, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr1:161310446
GRCh38:
Chr1:161340656
SDHCHereditary cancer-predisposing syndromeLikely pathogenic
(Aug 16, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:161326457-161332233
GRCh38:
Chr1:161356667-161362443
SDHCParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Apr 4, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr1:161326457-161326640
GRCh38:
Chr1:161356667-161356850
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Mar 18, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:161326465
GRCh38:
Chr1:161356675
SDHCHereditary cancer-predisposing syndromeLikely pathogenic
(Sep 16, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:161326467-161326630
GRCh38:
Chr1:161356677-161356840
SDHCParagangliomas 3Pathogenic
(Jun 26, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr1:161326470-161326471
GRCh38:
Chr1:161356680-161356681
SDHCL31fs, L50fs, L84fs, L48fs, L63fs, L124fs, L47fs, L65fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Oct 1, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr1:161326471-161326472
GRCh38:
Chr1:161356681-161356682
SDHCS30fs, S83fs, S49fs, S123fs, S47fs, S62fs, S64fs, S46fsParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Jan 29, 2019)
criteria provided, single submitter
49.
GRCh37:
Chr1:161326474-161326477
GRCh38:
Chr1:161356684-161356687
SDHCF32fs, F51fs, F85fs, F125fs, F48fs, F66fs, F64fs, F49fsHereditary cancer-predisposing syndromePathogenic
(Oct 1, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr1:161326500-161326501
GRCh38:
Chr1:161356710-161356711
SDHCG41fs, G60fs, G94fs, G134fs, G58fs, G57fs, G75fs, G73fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Feb 24, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:161326510-161326511
GRCh38:
Chr1:161356720-161356721
SDHCE63*, E97*, E44*, E60*, E61*, E76*, E78*, E137*Gastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Oct 25, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:161326574-161326575
GRCh38:
Chr1:161356784-161356785
SDHCK64fs, K83fs, K117fs, K80fs, K98fs, K157fs, K81fs, K96fsGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Aug 27, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr1:161326598-161326613
GRCh38:
Chr1:161356808-161356823
SDHCY126fs, Y92fs, Y73fs, Y105fs, Y107fs, Y89fs, Y90fs, Y166fsGastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome
Pathogenic
(Dec 24, 2021)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:161326599
GRCh38:
Chr1:161356809
SDHCM125R, M91R, M72R, M89R, M104R, M106R, M165R, M88RGastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr1:161326600-161326601
GRCh38:
Chr1:161356810-161356811
SDHCY126fs, Y73fs, Y92fs, Y107fs, Y166fs, Y89fs, Y90fs, Y105fsHereditary cancer-predisposing syndromePathogenic
(Jan 9, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr1:161326602
GRCh38:
Chr1:161356812
SDHCY126C, Y73C, Y92C, Y105C, Y166C, Y90C, Y107C, Y89CParagangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome,
Paragangliomas 3, not provided
Pathogenic/Likely pathogenic
(Sep 21, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:161326604
GRCh38:
Chr1:161356814
SDHCH127Y, H93Y, H74Y, H106Y, H108Y, H167Y, H90Y, H91YParagangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
Pathogenic
(Jan 28, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:161326605
GRCh38:
Chr1:161356815
SDHCH127R, H74R, H93R, H106R, H167R, H91R, H108R, H90RGastrointestinal 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
59.
GRCh37:
Chr1:161326611
GRCh38:
Chr1:161356821
SDHCW129*, W76*, W95*, W108*, W169*, W92*, W110*, W93*Paragangliomas 3, Gastrointestinal stromal tumor, Paragangliomas 3
Pathogenic
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:161326612
GRCh38:
Chr1:161356822
SDHCW129*, 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
61.
GRCh37:
Chr1:161326622
GRCh38:
Chr1:161356832
SDHCR133*, 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
62.
GRCh37:
Chr1:161326630
GRCh38:
Chr1:161356840
SDHCParagangliomas 3, Gastrointestinal stromal tumorLikely pathogenic
(Aug 28, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr1:161326631
GRCh38:
Chr1:161356841
SDHCParagangliomas 3, Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
Pathogenic
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr1:161326631
GRCh38:
Chr1:161356841
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Aug 20, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr1:161326631
GRCh38:
Chr1:161356841
SDHCGastrointestinal stromal tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome,
not provided
Pathogenic
(Nov 1, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:161332119-161332223
GRCh38:
Chr1:161362329-161362433
SDHCHereditary pheochromocytoma-paragangliomaPathogenicno assertion criteria provided
67.
GRCh37:
Chr1:161332152
GRCh38:
Chr1:161362362
SDHCP58L, P92L, Q113*, Q147*, Q94*, Q126*, Q187*, P73L, Q111*, Q110*, Q128*not providedLikely pathogenic
(Feb 27, 2020)
criteria provided, single submitter
68.
GRCh37:
Chr1:161332165-161332168
GRCh38:
Chr1:161362375-161362378
SDHCW63*, W78*, W97*Hereditary cancer-predisposing syndromeLikely pathogenic
(Jul 28, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr1:161284158-161284225
SDHCParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Apr 27, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:161326457-161326640
SDHCParagangliomas 3, Gastrointestinal stromal tumorLikely pathogenic
(Sep 6, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:161298176-161298297
SDHCParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Dec 23, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr1:161310374-161332308
SDHCParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Aug 12, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr1:161326457-161332308
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Aug 4, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:161332109-161332308
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Oct 16, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:161310374-161310455
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Sep 5, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:161293394-161293470
SDHCParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(May 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:161310374-161326640
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Aug 12, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:161284158-161332308
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Oct 24, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:161293394-161298297
SDHCGastrointestinal stromal tumor, Paragangliomas 3Pathogenic
(Jul 21, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:161310374-161310455
SDHCGastrointestinal stromal tumor, Paragangliomas 3Likely pathogenic
(Oct 3, 2022)
criteria provided, single submitter
81.
SDHCParagangliomas 3, Gastrointestinal stromal tumorPathogenic
(Feb 9, 2016)
criteria provided, single submitter
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