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Items: 1 to 100 of 110

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:111958579
GRCh38:
Chr11:112087855
SDHDCarney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma		Likely pathogenic
(Jul 19, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr11:111958580
GRCh38:
Chr11:112087856
SDHDPheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3		Likely pathogenic
(Sep 22, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr11:111958580-111958581
GRCh38:
Chr11:112087856-112087857
SDHDPheochromocytoma, Paragangliomas 1, Cowden syndrome 3,
Carney-Stratakis syndrome		Likely pathogenic
(Jun 12, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr11:111958580-111958581
GRCh38:
Chr11:112087856-112087857
SDHDL19fsHereditary cancer-predisposing syndrome, Pheochromocytoma, Cowden syndrome 3,
Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
not provided		Pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:111958585
GRCh38:
Chr11:112087861
SDHDL20fsParagangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma		Pathogenic
(Aug 19, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:111958592
GRCh38:
Chr11:112087868
SDHDR22*Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided,
Pheochromocytoma		Pathogenic
(Oct 16, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:111958614-111958620
GRCh38:
Chr11:112087890-112087896
SDHDH30fsHereditary cancer-predisposing syndromePathogenic
(Jun 6, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr11:111958620-111958621
GRCh38:
Chr11:112087896-112087897
SDHDA33fsParagangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided
Pathogenic
(Mar 16, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:111958623
GRCh38:
Chr11:112087899
SDHDS32*Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, Paragangliomas 1
Pathogenic
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:111958634
GRCh38:
Chr11:112087910
SDHDQ36*Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome,
Pheochromocytoma, Hereditary cancer-predisposing syndrome		Pathogenic
(Mar 19, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:111958636-111958637
GRCh38:
Chr11:112087912-112087913
SDHDI40fsCarney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Cowden syndrome 3, not provided		Pathogenic/Likely pathogenic
(Mar 8, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:111958640
GRCh38:
Chr11:112087916
SDHDR38*Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma		Pathogenic
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:111958652-111958655
GRCh38:
Chr11:112087928-112087931
SDHDE42fsPheochromocytoma, Paragangliomas 1, Cowden syndrome,
Carney-Stratakis syndrome		Pathogenic
(Jan 31, 2019)		criteria provided, single submitter
14.
GRCh37:
Chr11:111958656
GRCh38:
Chr11:112087932
SDHDW43*Paragangliomas 1Likely pathogenic
(Jan 3, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr11:111958657
GRCh38:
Chr11:112087933
SDHDW43*Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided
Pathogenic
(Aug 13, 2021)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:111958663-111958670
GRCh38:
Chr11:112087939-112087946
SDHDV46fsParagangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3,
Carney-Stratakis syndrome		Pathogenic
(Oct 12, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr11:111958663-111958688
GRCh38:
Chr11:112087939-112087964
SDHDV46fsHereditary cancer-predisposing syndromePathogenic
(Oct 10, 2019)		criteria provided, single submitter
18.
GRCh37:
Chr11:111958667
GRCh38:
Chr11:112087943
SDHDQ47*Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Carney-Stratakis syndrome, not provided		Pathogenic
(Jan 7, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:111958674-111958675
GRCh38:
Chr11:112087950-112087951
SDHDH50fsPheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, Pheochromocytoma
Pathogenic/Likely pathogenic
(Oct 2, 2021)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:111958676
GRCh38:
Chr11:112087952
SDHDH50DPheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, not provided
Likely pathogenic
(Aug 20, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:111958683
GRCh38:
Chr11:112087959
SDHDS52*Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome		Pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:111958698
GRCh38:
Chr11:112087974
SDHDPheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome,
Cowden syndrome 3		Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
23.
GRCh37:
Chr11:111958698
GRCh38:
Chr11:112087974
SDHDCarney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss		Pathogenic
(Jul 14, 2021)		criteria provided, single submitter
24.
GRCh37:
Chr11:111958702
GRCh38:
Chr11:112087978
SDHDnot providedLikely pathogenic
(Oct 23, 2020)		criteria provided, single submitter
25.
GRCh37:
Chr11:111959581-111965704
GRCh38:
Chr11:112088857-112094980
SDHDPheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Cowden syndrome 3		Pathogenic
(Apr 13, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr11:111959590
GRCh38:
Chr11:112088866
SDHDPheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome		Pathogenic
(Apr 30, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr11:111959593
GRCh38:
Chr11:112088869
SDHDG58fs, G19fsPheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3		Pathogenic
(Mar 8, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr11:111959608-111959609
GRCh38:
Chr11:112088884-112088885
SDHDL64fs, L25fsParagangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided
Pathogenic
(Jul 4, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:111959619
GRCh38:
Chr11:112088895
SDHDW27*, W66*Inborn genetic diseasesPathogenic
(Apr 29, 2020)		criteria provided, single submitter
30.
GRCh37:
Chr11:111959624-111959625
GRCh38:
Chr11:112088900-112088901
SDHDS29fs, S68fsPheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Carney-Stratakis syndrome		Pathogenic
(Aug 12, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr11:111959626
GRCh38:
Chr11:112088902
SDHDE69K, E30KParagangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Pheochromocytoma,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided
Pathogenic/Likely pathogenic
(Dec 5, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:111959630
GRCh38:
Chr11:112088906
SDHDR70T, R31THereditary cancer-predisposing syndrome, not providedLikely pathogenic
(Mar 13, 2020)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr11:111959630
GRCh38:
Chr11:112088906
SDHDR70M, R31MHereditary cancer-predisposing syndromeLikely pathogenic
(May 2, 2017)		criteria provided, single submitter
34.
GRCh37:
Chr11:111959632-111959634
GRCh38:
Chr11:112088908-112088910
SDHDV72del, V33delHereditary cancer-predisposing syndromeLikely pathogenic
(Aug 15, 2019)		criteria provided, single submitter
35.
GRCh37:
Chr11:111959637-111959638
GRCh38:
Chr11:112088913-112088914
SDHDS34fs, S73fsParagangliomas 1Likely pathogenic
(Dec 13, 2021)		criteria provided, single submitter
36.
GRCh37:
Chr11:111959642
GRCh38:
Chr11:112088918
SDHDL36fs, L75fsPheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3,
Paragangliomas with sensorineural hearing loss		Pathogenic
(Aug 31, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr11:111959660
GRCh38:
Chr11:112088936
SDHDL80R, L41RCarney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Cowden syndrome 3		Pathogenic
(Aug 24, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr11:111959662
GRCh38:
Chr11:112088938
SDHDP81fs, P42fsPheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome		Pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr11:111959663
GRCh38:
Chr11:112088939
SDHDP42R, P81RParagangliomaPathogenic
(Mar 11, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr11:111959663
GRCh38:
Chr11:112088939
SDHDP81L, P42LPheochromocytoma, Carney-Stratakis syndrome, Mitochondrial complex II deficiency, nuclear type 1,
Paragangliomas 1, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Carney-Stratakis syndrome, Cowden syndrome 3, Hereditary cancer-predisposing syndrome,
not provided, Hereditary pheochromocytoma-paragangliomaParagangliomas 1,
Mitochondrial complex II deficiency, nuclear type 1, ...see more		Pathogenic/Likely pathogenic
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:111959684-111959685
GRCh38:
Chr11:112088960-112088961
SDHDA90fs, A51fsHereditary cancer-predisposing syndromePathogenic
(May 7, 2020)		criteria provided, single submitter
42.
GRCh37:
Chr11:111959685
GRCh38:
Chr11:112088961
SDHDC88*, C49*Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Cowden syndrome 3		Pathogenic
(Jan 15, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr11:111959686-111959700
GRCh38:
Chr11:112088962-112088976
SDHDHereditary pheochromocytoma-paragangliomaLikely pathogenic
(May 14, 2019)		criteria provided, single submitter
44.
GRCh37:
Chr11:111959695
GRCh38:
Chr11:112088971
SDHDD92Y, D53YParagangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided,
Paragangliomas 4		Pathogenic/Likely pathogenic
(Jun 18, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr11:111959696
GRCh38:
Chr11:112088972
SDHDD92V, D53VPheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, not provided, Hereditary cancer-predisposing syndrome
Likely pathogenic
(May 20, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:111959696
GRCh38:
Chr11:112088972
SDHDD92G, D53GFatal infantile mitochondrial cardiomyopathy, Mitochondrial complex 2 deficiency, nuclear type 3Pathogenic
(May 26, 2015)		no assertion criteria provided
47.
GRCh37:
Chr11:111959697-111959698
GRCh38:
Chr11:112088973-112088974
SDHDHereditary cancer-predisposing syndromeLikely pathogenic
(Apr 3, 2020)		criteria provided, single submitter
48.
GRCh37:
Chr11:111959698-111959700
GRCh38:
Chr11:112088974-112088976
SDHDY93del, Y54delHereditary cancer-predisposing syndromeLikely pathogenic
(Oct 6, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr11:111959702
GRCh38:
Chr11:112088978
SDHDL56fs, L95fsPheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Carney-Stratakis syndrome		Pathogenic
(Sep 1, 2021)		criteria provided, single submitter
50.
GRCh37:
Chr11:111959702-111959703
GRCh38:
Chr11:112088978-112088979
SDHDL56fs, L95fsCarney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss		Pathogenic
(Oct 14, 2021)		criteria provided, single submitter
51.
GRCh37:
Chr11:111959705
GRCh38:
Chr11:112088981
SDHDL95P, L56PHereditary cancer-predisposing syndromePathogenic
(Aug 19, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr11:111959709
GRCh38:
Chr11:112088985
SDHDA58fs, A97fsCarney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss		Pathogenic
(Sep 15, 2021)		criteria provided, single submitter
53.
GRCh37:
Chr11:111959716-111959719
GRCh38:
Chr11:112088992-112088995
SDHDT100fs, T61fsCarney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome		Pathogenic
(Feb 20, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr11:111959719
GRCh38:
Chr11:112088995
SDHDT61fs, T100fsParagangliomas 1Likely pathogenicno assertion criteria provided
55.
GRCh37:
Chr11:111959725
GRCh38:
Chr11:112089001
SDHDH63Y, H102YHereditary cancer-predisposing syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Carney-Stratakis syndrome, Cowden syndrome 3		Pathogenic/Likely pathogenic
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:111959725
GRCh38:
Chr11:112089001
SDHDH102N, H63NCarney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome		Pathogenic/Likely pathogenic
(Aug 12, 2021)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:111959726
GRCh38:
Chr11:112089002
SDHDH102P, H63PPheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Carney-Stratakis syndrome		Likely pathogenic
(Sep 1, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr11:111959726
GRCh38:
Chr11:112089002
SDHDH102R, H63RCowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Pheochromocytoma, Hereditary cancer-predisposing syndrome		Pathogenic/Likely pathogenic
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:111959726
GRCh38:
Chr11:112089002
SDHDH102L, H63LParagangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome		Pathogenic
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:111959735
GRCh38:
Chr11:112089011
SDHDW105*, W66*Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, Mitochondrial complex 2 deficiency, nuclear type 3, Hereditary cancer-predisposing syndrome
Pathogenic
(Sep 22, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:111959736
GRCh38:
Chr11:112089012
SDHDHereditary cancer-predisposing syndromePathogenic
(May 28, 2020)		criteria provided, single submitter
62.
GRCh37:
Chr11:111959736
GRCh38:
Chr11:112089012
SDHDCarney-Stratakis syndrome, Pheochromocytoma, Cowden syndrome 3,
Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome		Pathogenic/Likely pathogenic
(May 26, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:111959736
GRCh38:
Chr11:112089012
SDHDPheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome		Pathogenic/Likely pathogenic
(Aug 28, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:111964415-111966592
GRCh38:
Chr11:112093691-112095868
SDHDParagangliomas 1Pathogenic
(Jan 24, 2020)		criteria provided, single submitter
65.
GRCh37:
Chr11:111965519-111965704
GRCh38:
Chr11:112094795-112094980
SDHDPheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Cowden syndrome 3		Pathogenic
(Jul 17, 2019)		criteria provided, single submitter
66.
GRCh37:
Chr11:111965523-111965700
GRCh38:
Chr11:112094799-112094976
SDHDCowden syndrome 3, Carney-Stratakis syndrome, Pheochromocytoma,
Paragangliomas 1		Pathogenic
(Oct 31, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr11:111965528
GRCh38:
Chr11:112094804
SDHDnot provided, Carney-Stratakis syndrome, Pheochromocytoma,
Mitochondrial complex 2 deficiency, nuclear type 3, Paragangliomas 1		Likely pathogenic
(Dec 17, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:111965529-111965694
GRCh38:
Chr11:112094805-112094970
SDHDW105fs, W66fs, W57fsHereditary pheochromocytoma-paragangliomaPathogenicno assertion criteria provided
69.
GRCh37:
Chr11:111965529
GRCh38:
Chr11:112094805
SDHDW105*, W66*, W57*Paragangliomas 1, Pheochromocytoma, Carney-Stratakis syndrome,
Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma,
Hereditary cancer-predisposing syndrome		Pathogenic
(Jul 11, 2016)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:111965531
GRCh38:
Chr11:112094807
SDHDA58T, G67D, G106DCarney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome		Pathogenic/Likely pathogenic
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:111965531
GRCh38:
Chr11:112094807
SDHDG106V, G67V, A58SCarney-Stratakis syndrome, Pheochromocytoma, Cowden syndrome 3,
Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome, Paragangliomas 1
Pathogenic/Likely pathogenic
(Aug 5, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:111965533-111965534
GRCh38:
Chr11:112094809-112094810
SDHDG108fs, G69fs, L59fsnot providedLikely pathogenic
(Feb 18, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr11:111965534
GRCh38:
Chr11:112094810
SDHDL68P, L107PHereditary cancer-predisposing syndromeLikely pathogenic
(Dec 21, 2017)		criteria provided, single submitter
74.
GRCh37:
Chr11:111965539
GRCh38:
Chr11:112094815
SDHDQ109*, Q70*Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome		Pathogenic
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:111965540-111965541
GRCh38:
Chr11:112094816-112094817
SDHDK61fs, Q109fs, Q70fsHereditary cancer-predisposing syndromeLikely pathogenic
(Sep 28, 2019)		criteria provided, single submitter
76.
GRCh37:
Chr11:111965548-111965551
GRCh38:
Chr11:112094824-112094827
SDHDD113fs, D74fs, T65fsPheochromocytoma, Carney-Stratakis syndrome, Mitochondrial complex 2 deficiency, nuclear type 3,
Paragangliomas 1, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Carney-Stratakis syndrome, Cowden syndrome 3, Hereditary cancer-predisposing syndrome,
not provided		Pathogenic
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:111965549-111965550
GRCh38:
Chr11:112094825-112094826
SDHDD74*, T65fs, D113*Paragangliomas 1, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Cowden syndrome 3, Carney-Stratakis syndrome		Pathogenic
(Jul 4, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:111965551-111965552
GRCh38:
Chr11:112094827-112094828
SDHDD113fs, T65fs, D74fsParagangliomas 1Pathogenic
(May 15, 2001)		no assertion criteria provided
79.
GRCh37:
Chr11:111965554-111965555
GRCh38:
Chr11:112094830-112094831
SDHDY75fs, Y114fs, M66fsHereditary cancer-predisposing syndromePathogenic
(May 31, 2019)		criteria provided, single submitter
80.
GRCh37:
Chr11:111965554
GRCh38:
Chr11:112094830
SDHDY114D, Y75DHereditary cancer-predisposing syndrome, not providedPathogenic/Likely pathogenic
(Nov 3, 2020)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:111965554
GRCh38:
Chr11:112094830
SDHDY114H, Y75HParagangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3		Likely pathogenic
(Jun 9, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr11:111965554
GRCh38:
Chr11:112094830
SDHDY114N, Y75NHereditary cancer-predisposing syndromeLikely pathogenic
(May 11, 2015)		criteria provided, single submitter
83.
GRCh37:
Chr11:111965555
GRCh38:
Chr11:112094831
SDHDY114C, M66V, Y75CParagangliomas with sensorineural hearing loss, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma		Pathogenic
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr11:111965556
GRCh38:
Chr11:112094832
SDHDM66K, Y114*, Y75*Pheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, not specified
Pathogenic
(May 5, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:111965563
GRCh38:
Chr11:112094839
SDHDM70fs, D118fs, D79fsPheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome		Pathogenic
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:111965575
GRCh38:
Chr11:112094851
SDHDQ121*, Q82*Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Pheochromocytoma		Pathogenic/Likely pathogenic
(Aug 25, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr11:111965578
GRCh38:
Chr11:112094854
SDHDK122*, R73S, K83*Hereditary cancer-predisposing syndromePathogenic
(Feb 24, 2021)		criteria provided, single submitter
88.
GRCh37:
Chr11:111965593
GRCh38:
Chr11:112094869
SDHDG79fs, L128fs, L89fsPheochromocytoma, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome		Pathogenic
(Aug 27, 2021)		criteria provided, single submitter
89.
GRCh37:
Chr11:111965596-111965597
GRCh38:
Chr11:112094872-112094873
SDHDL90fs, W81fs, L129fsPheochromocytoma, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Carney-Stratakis syndrome		Pathogenic
(Aug 21, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr11:111965597
GRCh38:
Chr11:112094873
SDHDL129fs, L90fs, W81fsPheochromocytomaLikely pathogenic
(Jan 1, 2016)		no assertion criteria provided
91.
GRCh37:
Chr11:111965600-111965601
GRCh38:
Chr11:112094876-112094877
SDHDA91fs, H82fs, A130fsHereditary cancer-predisposing syndromePathogenic
(Jul 2, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr11:111965606
GRCh38:
Chr11:112094882
SDHDS132fs, S93fs, Q84fsParagangliomas 1, Pheochromocytoma, Hereditary cancer-predisposing syndrome,
Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma		Pathogenic/Likely pathogenic
(Feb 6, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr11:111965625
GRCh38:
Chr11:112094901
SDHDL139fs, L100fsnot providedLikely pathogenic
(Sep 16, 2018)		no assertion criteria provided
94.
GRCh37:
Chr11:111965626
GRCh38:
Chr11:112094902
SDHDG138R, G99Rnot provided, Carney-Stratakis syndrome, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Hereditary cancer-predisposing syndrome
Likely pathogenic
(Sep 2, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr11:111965627
GRCh38:
Chr11:112094903
SDHDG138E, G99EParagangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma		Likely pathogenic
(Mar 10, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr11:111965627
GRCh38:
Chr11:112094903
SDHDG138V, G99VPheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome,
Cowden syndrome 3		Likely pathogenic
(Mar 2, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr11:111965630
GRCh38:
Chr11:112094906
SDHDL139R, L100RParagangliomas with sensorineural hearing loss, Cowden syndrome 3, Pheochromocytoma,
Carney-Stratakis syndrome		Likely pathogenic
(Jun 9, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr11:111965630
GRCh38:
Chr11:112094906
SDHDL139P, L100Pnot provided, Paragangliomas 1Pathogenic
(Jul 1, 2001)		no assertion criteria provided
99.
GRCh37:
Chr11:111965638-111965641
GRCh38:
Chr11:112094914-112094917
SDHDF103fs, F142fsParagangliomas 1Likely pathogenic
(Jan 3, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr11:111965655
GRCh38:
Chr11:112094931
SDHDG148fs, G109fsParagangliomas 1Likely pathogenic
(Apr 29, 2022)		criteria provided, single submitter
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