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Links from MedGen

Items: 15

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:61213520-61213523
GRCh38:
Chr11:61446048-61446051
SDHAF2Y160fsParagangliomas 2Uncertain significance
(Jul 1, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr11:61205098-61205101
GRCh38:
Chr11:61437626-61437629
SDHAF2A15fsParagangliomas 2Likely pathogenic
(Jan 1, 2019)
criteria provided, single submitter
3.
GRCh37:
Chr11:61205567
GRCh38:
Chr11:61438095
SDHAF2I118VHereditary pheochromocytoma-paraganglioma, Paragangliomas 2, Hereditary cancer-predisposing syndrome
Uncertain significance
(Jun 7, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr11:61205096
GRCh38:
Chr11:61437624
SDHAF2Hereditary pheochromocytoma-paraganglioma, not provided, Hereditary cancer-predisposing syndrome,
Paragangliomas 2
Pathogenic/Likely pathogenic
(Dec 16, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr11:61205589
GRCh38:
Chr11:61438117
SDHAF2Paragangliomas 2, Hereditary pheochromocytoma-paragangliomaUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:61205254
GRCh38:
Chr11:61437782
SDHAF2T65IHereditary cancer-predisposing syndrome, Paragangliomas 2, Hereditary pheochromocytoma-paraganglioma
Uncertain significance
(Mar 4, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr11:61205158
GRCh38:
Chr11:61437686
SDHAF2R33HParagangliomas 2, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma
Uncertain significance
(Jun 8, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:61213539
GRCh38:
Chr11:61446067
SDHAF2R166HParagangliomas 2, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma
Conflicting interpretations of pathogenicity
(Sep 28, 2022)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr11:61197650
GRCh38:
Chr11:61430178
SDHAF2S11Lnot provided, Paragangliomas 2, Hereditary cancer-predisposing syndrome,
Hereditary pheochromocytoma-paraganglioma
Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:61213518
GRCh38:
Chr11:61446046
SDHAF2E159AHereditary pheochromocytoma-paraganglioma, Paragangliomas 2, Hereditary cancer-predisposing syndrome,
not provided
Uncertain significance
(Feb 24, 2023)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr11:61197618
GRCh38:
Chr11:61430146
SDHAF2Paragangliomas 2, Hereditary cancer-predisposing syndrome, not provided
Conflicting interpretations of pathogenicity
(Mar 20, 2023)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr11:61205434
GRCh38:
Chr11:61437962
SDHAF2not specified, Paragangliomas 2, not provided
Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr11:61197664
GRCh38:
Chr11:61430192
SDHAF2Hereditary pheochromocytoma-paraganglioma, Paragangliomas 2, not specified
Benign/Likely benign
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr11:61205266
GRCh38:
Chr11:61437794
SDHAF2R69HHereditary cancer-predisposing syndrome, not specified, Hereditary pheochromocytoma-paraganglioma,
Paragangliomas 2
Uncertain significance
(Dec 27, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr11:61205292
GRCh38:
Chr11:61437820
SDHAF2G78RHereditary cancer-predisposing syndrome, not provided, Hereditary pheochromocytoma-paraganglioma
Pathogenic
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
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