| - GRCh37:
- Chr11:111965645
- GRCh38:
- Chr11:112094921
| SDHD | Y105C, Y144C | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Cowden syndrome 3,
Pheochromocytoma, Carney-Stratakis syndrome, Mitochondrial complex 2 deficiency, nuclear type 3,
Paragangliomas 1, Pheochromocytoma, Hereditary cancer-predisposing syndrome
| Uncertain significance
(Aug 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959596
- GRCh38:
- Chr11:112088872
| SDHD | S20P, S59P | Cowden syndrome, Paragangliomas 1, Pheochromocytoma,
Carney-Stratakis syndrome, Hereditary cancer-predisposing syndrome, Paragangliomas 1,
Pheochromocytoma, Mitochondrial complex 2 deficiency, nuclear type 3, Carney-Stratakis syndrome,
Cowden syndrome 3, PheochromocytomaParagangliomas with sensorineural hearing loss,
Carney-Stratakis syndrome, ...see more | Uncertain significance
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965528
- GRCh38:
- Chr11:112094804
| SDHD | | Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas 1,
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 | | Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss, Pheochromocytoma,
Cowden syndrome 3, Mitochondrial complex 2 deficiency, nuclear type 3, not specified,
not provided, Paragangliomas 1, Pheochromocytoma,
Paragangliomas 3 | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959562
- GRCh38:
- Chr11:112088838
| SDHD | | not specified, Mitochondrial complex 2 deficiency, nuclear type 3, Paragangliomas 1,
Pheochromocytoma, not provided, Paragangliomas 3
| Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959735
- GRCh38:
- Chr11:112089011
| SDHD | W105*, W66* | Mitochondrial complex 2 deficiency, nuclear type 3, Hereditary cancer-predisposing syndrome, Carney-Stratakis syndrome,
Cowden syndrome 3, Pheochromocytoma, Paragangliomas with sensorineural hearing loss
| Pathogenic
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111958676
- GRCh38:
- Chr11:112087952
| SDHD | H50Y | Paragangliomas with sensorineural hearing loss, Cowden syndrome 3, Carney-Stratakis syndrome,
Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Pheochromocytoma, Mitochondrial complex 2 deficiency, nuclear type 3, not provided
| Uncertain significance
(Aug 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959733
- GRCh38:
- Chr11:112089009
| SDHD | | Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Mitochondrial complex 2 deficiency, nuclear type 3, not provided, Pheochromocytoma,
not specified, Pheochromocytoma, Cowden syndrome 3,
Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndromeHereditary cancer-predisposing syndrome,
Paragangliomas 3, ...see more | Benign/Likely benign
(Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959696
- GRCh38:
- Chr11:112088972
| SDHD | D92G, D53G | Fatal infantile mitochondrial cardiomyopathy, Mitochondrial complex 2 deficiency, nuclear type 3 | Pathogenic
(May 26, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr11:111965693
- GRCh38:
- Chr11:112094969
| SDHD | | Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not specified,
not provided | Conflicting interpretations of pathogenicity
(Aug 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr11:111959626
- GRCh38:
- Chr11:112088902
| SDHD | E69K, E30K | Carney-Stratakis syndrome, Pheochromocytoma, Paragangliomas with sensorineural hearing loss,
Cowden syndrome 3, Hereditary cancer-predisposing syndrome, not provided
| Pathogenic/Likely pathogenic
(Dec 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111959625
- GRCh38:
- Chr11:112088901
| SDHD | | Mitochondrial complex 2 deficiency, nuclear type 3, Carney-Stratakis syndrome, Pheochromocytoma,
Cowden syndrome 3, Paragangliomas with sensorineural hearing loss, Hereditary cancer-predisposing syndrome,
not specified, not provided, Paragangliomas 3,
Paragangliomas 1, Pheochromocytoma ...see more | Benign/Likely benign
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111965548-111965551
- GRCh38:
- Chr11:112094824-112094827
| SDHD | D113fs, D74fs, T65fs | Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
Pheochromocytoma, Carney-Stratakis syndrome, Paragangliomas 1,
Pheochromocytoma, Mitochondrial complex 2 deficiency, nuclear type 3, Hereditary cancer-predisposing syndrome,
not provided, Paragangliomas 1 ...see more | Pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr11:111957665
- GRCh38:
- Chr11:112086941
| LOC126861339, SDHD | G12S | Cowden syndrome 3, Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss,
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
(Oct 1, 2023) | criteria provided, conflicting interpretations |