Links from MedGen
Items: 6
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:161310428
- GRCh38:
- Chr1:161340638
| SDHC | G75D, G22D, G41D, G56D, G38D, G115D | Gastrointestinal stroma tumor, Paragangliomas 3, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Oct 25, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161284201
- GRCh38:
- Chr1:161314411
| SDHC | A3fs | Hereditary cancer-predisposing syndrome | Pathogenic
(May 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr5:224619
- GRCh38:
- Chr5:224504
| SDHA | H99Y | Carney triad | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:17355138
- GRCh38:
- Chr1:17028643
| SDHB | I127S | Hereditary pheochromocytoma-paraganglioma, Gastrointestinal stroma tumor, Paragangliomas 4,
Gastrointestinal stroma tumor, Pheochromocytoma, not provided,
Hereditary pheochromocytoma-paraganglioma, Paragangliomas 4, Hereditary cancer-predisposing syndrome
| Pathogenic/Likely pathogenic
(Nov 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:223624
- GRCh38:
- Chr5:223509
| SDHA | R31* | Neurodegeneration with ataxia and late-onset optic atrophy, SDHA-Related Disorders, Neurodegeneration with ataxia and late-onset optic atrophy,
Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5, Dilated cardiomyopathy 1GG,
Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency, nuclear type 1, Paragangliomas 5,
not provided, Paragangliomas 5Gastrointestinal stroma tumor,
Pilocytic astrocytoma, Leigh syndrome, ...see more | Pathogenic/Likely pathogenic
(Aug 15, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:161326631
- GRCh38:
- Chr1:161356841
| SDHC | | Paragangliomas 3, Gastrointestinal stroma tumor | Pathogenic
(Aug 20, 2019) | criteria provided, single submitter |