| - GRCh37:
- Chr11:111965645
- GRCh38:
- Chr11:112094921
| SDHD | Y105C, Y144C | Mitochondrial complex 2 deficiency, nuclear type 3, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome,
Pheochromocytoma, Cowden syndrome 3 | Uncertain significance
(Apr 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111958656
- GRCh38:
- Chr11:112087932
| SDHD | W43* | Paragangliomas 1 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111965638-111965641
- GRCh38:
- Chr11:112094914-112094917
| SDHD | F103fs, F142fs | Paragangliomas 1 | Likely pathogenic
(Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111959637-111959638
- GRCh38:
- Chr11:112088913-112088914
| SDHD | S34fs, S73fs | Paragangliomas 1 | Likely pathogenic
(Dec 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957680
- GRCh38:
- Chr11:112086956
| LOC126861339, SDHD | R17* | Paragangliomas 1, not provided, Hereditary cancer-predisposing syndrome,
Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss | Pathogenic
(Jan 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111957547-111958707
| SDHD | | Paragangliomas 1, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma | Pathogenic
(Oct 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111171709-111965694
| C11orf52, CFAP68, HOATZ, HSPB2, LAYN, MIR34B, MIR34BHG, DLAT, FDXACB1, MIR34C, NKAPD1, PIH1D2, ALG9, BTG4, CRYAB, DIXDC1, POU2AF1, POU2AF3, PPP2R1B, SDHD, SIK2, TIMM8B | | Paragangliomas 1, Cowden syndrome 3, Carney-Stratakis syndrome,
Pheochromocytoma | Uncertain significance
(Feb 17, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958652-111958655
- GRCh38:
- Chr11:112087928-112087931
| SDHD | E42fs | Pheochromocytoma, Paragangliomas 1, Carney-Stratakis syndrome,
Cowden syndrome | Pathogenic
(Jan 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958526-111965694
| SDHD | | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Paragangliomas 1 | Uncertain significance
(Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957547-111957693
| SDHD | | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Paragangliomas 1 | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111965519-111965694
| SDHD | | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Paragangliomas 1 | Pathogenic
(Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957626-111965699
| SDHD | | Pheochromocytoma, Carney-Stratakis syndrome, Cowden syndrome 3,
Paragangliomas 1 | Pathogenic
(Dec 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957547-111965694
| SDHD | | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3, Paragangliomas 1 | Uncertain significance
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111171709-111965694
| MIR34B, MIR34BHG, MIR34C, NKAPD1, PIH1D2, POU2AF1, POU2AF3, PPP2R1B, ALG9, BTG4, C11orf52, CFAP68, CRYAB, DIXDC1, DLAT, FDXACB1, HOATZ, HSPB2, LAYN, SDHD, SIK2, TIMM8B | | Paragangliomas 1, Pheochromocytoma, Carney-Stratakis syndrome,
Cowden syndrome 3 | Pathogenic
(Sep 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111959596
- GRCh38:
- Chr11:112088872
| SDHD | S20P, S59P | Carney-Stratakis syndrome, Paragangliomas 1, Pheochromocytoma,
Cowden syndrome, Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome,
Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, Paragangliomas 1Mitochondrial complex 2 deficiency, nuclear type 3,
Pheochromocytoma, ...see more | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959653
- GRCh38:
- Chr11:112088929
| SDHD | G39R, G78R | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Cowden syndrome 3 | Uncertain significance
(Sep 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111965669-111965677
- GRCh38:
- Chr11:112094945-112094953
| SDHD | | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Cowden syndrome 3 | Uncertain significance
(Aug 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111964415-111966592
- GRCh38:
- Chr11:112093691-112095868
| SDHD | | Paragangliomas 1 | Pathogenic
(Jan 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111965519-111965704
- GRCh38:
- Chr11:112094795-112094980
| SDHD | | Cowden syndrome 3, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma | Pathogenic
(Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957622-111965704
- GRCh38:
- Chr11:112086898-112094980
| LOC126861339, SDHD | | Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Pheochromocytoma, Cowden syndrome 3, Paragangliomas 1,
Carney-Stratakis syndrome, Pheochromocytoma | Pathogenic
(Apr 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957622-111965704
- GRCh38:
- Chr11:112086898-112094980
| LOC126861339, SDHD | | Cowden syndrome 3, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma | Uncertain significance
(Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111959581-111965704
- GRCh38:
- Chr11:112088857-112094980
| SDHD | | Cowden syndrome 3, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma | Pathogenic
(Apr 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958580-111958581
- GRCh38:
- Chr11:112087856-112087857
| SDHD | | Cowden syndrome 3, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma | Likely pathogenic
(Jun 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111965635
- GRCh38:
- Chr11:112094911
| SDHD | Y141H, Y102H | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Cowden syndrome 3,
Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, not provided,
Pheochromocytoma, Paragangliomas 1, Carney-Stratakis syndrome,
Mitochondrial complex II deficiency, nuclear type 1 | Uncertain significance
(Mar 11, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965549-111965550
- GRCh38:
- Chr11:112094825-112094826
| SDHD | D74*, T65fs, D113* | Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Paragangliomas 1 | Pathogenic
(Jul 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111957648-111957651
- GRCh38:
- Chr11:112086924-112086927
| LOC126861339, SDHD | L7fs | Carney-Stratakis syndrome, Cowden syndrome 3, Paragangliomas with sensorineural hearing loss,
Pheochromocytoma, Paragangliomas 1 | Pathogenic/Likely pathogenic
(Jan 23, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965523-111965700
- GRCh38:
- Chr11:112094799-112094976
| SDHD | | Cowden syndrome 3, Pheochromocytoma, Carney-Stratakis syndrome,
Paragangliomas 1 | Pathogenic
(Oct 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111965531
- GRCh38:
- Chr11:112094807
| SDHD | G106V, G67V, A58S | Paragangliomas 1, Pheochromocytoma, Carney-Stratakis syndrome,
Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965528
- GRCh38:
- Chr11:112094804
| SDHD | | Paragangliomas 1, Pheochromocytoma, Carney-Stratakis syndrome,
Mitochondrial complex 2 deficiency, nuclear type 3, not provided | Likely pathogenic
(Dec 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965497
- GRCh38:
- Chr11:112094773
| SDHD | | not provided, Cowden syndrome 3, Carney-Stratakis syndrome,
Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Mitochondrial complex 2 deficiency, nuclear type 3, Paragangliomas 1 | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959562
- GRCh38:
- Chr11:112088838
| SDHD | | not provided, Pheochromocytoma, Mitochondrial complex 2 deficiency, nuclear type 3,
Paragangliomas 1 | Benign
(Jul 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959719
- GRCh38:
- Chr11:112088995
| SDHD | T61fs, T100fs | Paragangliomas 1 | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr11:111958676
- GRCh38:
- Chr11:112087952
| SDHD | H50Y | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma, Mitochondrial complex 2 deficiency, nuclear type 3, not provided
| Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965606
- GRCh38:
- Chr11:112094882
| SDHD | S132fs, S93fs, Q84fs | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma, Paragangliomas 1, Pheochromocytoma,
Hereditary cancer-predisposing syndrome | Pathogenic/Likely pathogenic
(Feb 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959676
- GRCh38:
- Chr11:112088952
| SDHD | L85F, L46F | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma, not specified, not provided,
Paragangliomas 1, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Nov 30, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111965529
- GRCh38:
- Chr11:112094805
| SDHD | W105*, W66*, W57* | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, Paragangliomas 1,
Pheochromocytoma | Pathogenic
(Jul 11, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111958581
- GRCh38:
- Chr11:112087857
| SDHD | A18V | not provided, Hereditary pheochromocytoma-paraganglioma, Paragangliomas 1,
Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome | Conflicting interpretations of pathogenicity
(Jan 5, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111965686-111965687
- GRCh38:
- Chr11:112094962-112094963
| SDHD | | Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome,
Paragangliomas 1 | Uncertain significance
(Mar 11, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111965549
- GRCh38:
- Chr11:112094825
| SDHD | T112I, T73I | not specified, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome,
Paragangliomas 1, Carney-Stratakis syndrome, Pheochromocytoma,
Mitochondrial complex II deficiency, nuclear type 1, not provided ...see more | Uncertain significance
(Feb 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959669
- GRCh38:
- Chr11:112088945
| SDHD | A83V, A44V | Pheochromocytoma, Cowden syndrome 3, Carney-Stratakis syndrome,
Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3,
Carney-Stratakis syndrome, Paragangliomas 1 | Uncertain significance
(Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111959662
- GRCh38:
- Chr11:112088938
| SDHD | P81fs, P42fs | Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma, Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959593
- GRCh38:
- Chr11:112088869
| SDHD | G58fs, G19fs | Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma | Pathogenic
(Mar 8, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957640-111957641
- GRCh38:
- Chr11:112086916-112086917
| LOC126861339, SDHD | L4fs | Carney-Stratakis syndrome, Cowden syndrome 3, Pheochromocytoma,
Paragangliomas with sensorineural hearing loss, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma | Pathogenic
(Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111957548-111966525
- GRCh38:
- Chr11:112086824-112095801
| LOC126861339, SDHD | | Pheochromocytoma, Paragangliomas 1 | Pathogenic
(Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958646
- GRCh38:
- Chr11:112087922
| SDHD | I40L | Paragangliomas with sensorineural hearing loss, Pheochromocytoma, Cowden syndrome 3,
Carney-Stratakis syndrome, Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome,
Paragangliomas 1 | Conflicting interpretations of pathogenicity
(Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111959733
- GRCh38:
- Chr11:112089009
| SDHD | | Mitochondrial complex 2 deficiency, nuclear type 3, Pheochromocytoma, Paragangliomas 1,
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, Pheochromocytoma,
Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
not specified, not providedPheochromocytoma,
...see more | Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111958629
- GRCh38:
- Chr11:112087905
| SDHD | F34C | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided,
Paragangliomas 1 | Conflicting interpretations of pathogenicity
(Apr 24, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111959625
- GRCh38:
- Chr11:112088901
| SDHD | | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Pheochromocytoma,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, Paragangliomas 1,
Pheochromocytoma, Mitochondrial complex 2 deficiency, nuclear type 3, not specified,
not provided | Benign
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111957664
- GRCh38:
- Chr11:112086940
| LOC126861339, SDHD | C11* | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, Paragangliomas 1,
Pheochromocytoma | Pathogenic
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111957571-111966518
| SDHD | | Paragangliomas 1 | Pathogenic
(Nov 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr11:111958657
- GRCh38:
- Chr11:112087933
| SDHD | W43* | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic
(Aug 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965548-111965551
- GRCh38:
- Chr11:112094824-112094827
| SDHD | D113fs, D74fs, T65fs | Paragangliomas 1, Mitochondrial complex 2 deficiency, nuclear type 3, Carney-Stratakis syndrome,
Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome,
Cowden syndrome 3, Pheochromocytoma, Hereditary cancer-predisposing syndrome,
not provided | Pathogenic
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965677
- GRCh38:
- Chr11:112094953
| SDHD | M116fs, M155fs | Hereditary cancer-predisposing syndrome | Uncertain significance
(Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958677
- GRCh38:
- Chr11:112087953
| SDHD | H50R | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, not specified,
not provided, Paragangliomas 1, Carney-Stratakis syndrome,
Pheochromocytoma | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111958620-111958621
- GRCh38:
- Chr11:112087896-112087897
| SDHD | A33fs | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic
(Mar 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965630
- GRCh38:
- Chr11:112094906
| SDHD | L139P, L100P | not provided, Paragangliomas 1 | Pathogenic
(Jul 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr11:111957634
- GRCh38:
- Chr11:112086910
| LOC126861339, SDHD | M1I | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma
| Pathogenic
(Mar 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959698-111959700
- GRCh38:
- Chr11:112088974-112088976
| SDHD | Y93del, Y54del | Hereditary cancer-predisposing syndrome | Likely pathogenic
(Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958592
- GRCh38:
- Chr11:112087868
| SDHD | R22* | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, not provided,
Pheochromocytoma | Pathogenic
(Oct 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965655
- GRCh38:
- Chr11:112094931
| SDHD | G148fs, G109fs | Paragangliomas 1 | Likely pathogenic
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958623
- GRCh38:
- Chr11:112087899
| SDHD | S32* | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, Paragangliomas 1
| Pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965555
- GRCh38:
- Chr11:112094831
| SDHD | Y114C, M66V, Y75C | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma | Pathogenic
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965551-111965552
- GRCh38:
- Chr11:112094827-112094828
| SDHD | D113fs, T65fs, D74fs | Paragangliomas 1 | Pathogenic
(May 15, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr11:111959726
- GRCh38:
- Chr11:112089002
| SDHD | H102L, H63L | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959695
- GRCh38:
- Chr11:112088971
| SDHD | D92Y, D53Y | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, not provided,
Paragangliomas 4 | Pathogenic/Likely pathogenic
(Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959663
- GRCh38:
- Chr11:112088939
| SDHD | P81L, P42L | Paragangliomas 1, Mitochondrial complex II deficiency, nuclear type 1, Carney-Stratakis syndrome,
Pheochromocytoma, Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome,
Cowden syndrome 3, Pheochromocytoma, Hereditary cancer-predisposing syndrome,
not provided, Hereditary pheochromocytoma-paragangliomaParagangliomas 1,
Mitochondrial complex II deficiency, nuclear type 1, Pheochromocytoma, ...see more | Pathogenic/Likely pathogenic
(Oct 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111957665
- GRCh38:
- Chr11:112086941
| LOC126861339, SDHD | G12S | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Mitochondrial complex 2 deficiency, nuclear type 3, Hereditary cancer-predisposing syndrome,
not provided, not specified, Paragangliomas 1,
Carney-Stratakis syndrome, Pheochromocytoma ...see more | Conflicting interpretations of pathogenicity
(Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111957685
- GRCh38:
- Chr11:112086961
| LOC126861339, SDHD | | Pheochromocytoma | Likely pathogenic
(Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr11:111958640
- GRCh38:
- Chr11:112087916
| SDHD | R38* | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Cowden syndrome 3,
Pheochromocytoma, Hereditary cancer-predisposing syndrome, not provided,
Hereditary pheochromocytoma-paraganglioma | Pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111958634
- GRCh38:
- Chr11:112087910
| SDHD | Q36* | Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome, Pheochromocytoma,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome | Pathogenic
(Mar 19, 2022) | criteria provided, multiple submitters, no conflicts |