SDHAF2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogeni - ClinVar

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Items: 24

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14518441.	NM_017841.4(SDHAF2):c.28del (p.Ser10fs) GRCh37: Chr11:61197645 GRCh38: Chr11:61430173	SDHAF2	S10fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 14, 2022)	criteria provided, single submitter
Select item 21584482.	NM_017841.4(SDHAF2):c.32C>A (p.Ser11Ter) GRCh37: Chr11:61197650 GRCh38: Chr11:61430178	SDHAF2	S11*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 20207363.	NM_017841.4(SDHAF2):c.36+1G>A GRCh37: Chr11:61197655 GRCh38: Chr11:61430183	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 10680544.	NM_017841.4(SDHAF2):c.37-2A>G GRCh37: Chr11:61205095 GRCh38: Chr11:61437623	SDHAF2		Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8066785.	NM_017841.4(SDHAF2):c.37-1G>C GRCh37: Chr11:61205096 GRCh38: Chr11:61437624	SDHAF2		not provided, Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma-paraganglioma, Paragangliomas 2	Pathogenic/Likely pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9827846.	NM_017841.4(SDHAF2):c.42_45del (p.Ala15fs) GRCh37: Chr11:61205098-61205101 GRCh38: Chr11:61437626-61437629	SDHAF2	A15fs	Paragangliomas 2	Likely pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 20188777.	NM_017841.4(SDHAF2):c.89C>G (p.Ser30Ter) GRCh37: Chr11:61205149 GRCh38: Chr11:61437677	SDHAF2	S30*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 10692158.	NM_017841.4(SDHAF2):c.124del (p.Asp42fs) GRCh37: Chr11:61205184 GRCh38: Chr11:61437712	SDHAF2	D42fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Feb 20, 2020)	criteria provided, single submitter
Select item 12107709.	NM_017841.4(SDHAF2):c.130C>T (p.Gln44Ter) GRCh37: Chr11:61205190 GRCh38: Chr11:61437718	SDHAF2	Q44*	not provided, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 53251310.	NM_017841.4(SDHAF2):c.177dup (p.Asp60Ter) GRCh37: Chr11:61205236-61205237 GRCh38: Chr11:61437764-61437765	SDHAF2	D60*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Sep 27, 2019)	criteria provided, single submitter
Select item 178224211.	NM_017841.4(SDHAF2):c.189dup (p.Glu64fs) GRCh37: Chr11:61205248-61205249 GRCh38: Chr11:61437776-61437777	SDHAF2	E64fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 82050912.	NM_017841.4(SDHAF2):c.201_205dup (p.Arg69fs) GRCh37: Chr11:61205260-61205261 GRCh38: Chr11:61437788-61437789	SDHAF2	R69fs	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 27, 2019)	criteria provided, single submitter
Select item 144188013.	NM_017841.4(SDHAF2):c.216T>A (p.Tyr72Ter) GRCh37: Chr11:61205276 GRCh38: Chr11:61437804	SDHAF2	Y72*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 145237414.	NM_017841.4(SDHAF2):c.229_230del (p.Arg77fs) GRCh37: Chr11:61205287-61205288 GRCh38: Chr11:61437815-61437816	SDHAF2	R77fs	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Mar 27, 2021)	criteria provided, single submitter
Select item 40115.	NM_017841.4(SDHAF2):c.232G>A (p.Gly78Arg) GRCh37: Chr11:61205292 GRCh38: Chr11:61437820	SDHAF2	G78R	Hereditary cancer-predisposing syndrome, not provided, Hereditary pheochromocytoma-paraganglioma	Pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82112216.	NM_017841.4(SDHAF2):c.233G>A (p.Gly78Glu) GRCh37: Chr11:61205293 GRCh38: Chr11:61437821	SDHAF2	G78E	Hereditary cancer-predisposing syndrome	Likely pathogenic (Sep 30, 2019)	criteria provided, single submitter
Select item 106772217.	NM_017841.4(SDHAF2):c.260+2T>C GRCh37: Chr11:61205322 GRCh38: Chr11:61437850	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Oct 13, 2020)	criteria provided, single submitter
Select item 66090818.	NM_017841.4(SDHAF2):c.261-2A>T GRCh37: Chr11:61205474 GRCh38: Chr11:61438002	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Oct 12, 2021)	criteria provided, single submitter
Select item 179466619.	NM_017841.4(SDHAF2):c.267dup (p.Ala90fs) GRCh37: Chr11:61205477-61205478 GRCh38: Chr11:61438005-61438006	SDHAF2	A90fs	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 145112820.	NM_017841.4(SDHAF2):c.267del (p.Phe89fs) GRCh37: Chr11:61205478 GRCh38: Chr11:61438006	SDHAF2	F89fs	Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome	Pathogenic (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207042321.	NM_017841.4(SDHAF2):c.283C>T (p.Gln95Ter) GRCh37: Chr11:61205498 GRCh38: Chr11:61438026	SDHAF2	Q95*	Hereditary pheochromocytoma-paraganglioma	Pathogenic (Feb 9, 2022)	criteria provided, single submitter
Select item 82302222.	NM_017841.4(SDHAF2):c.315T>A (p.Tyr105Ter) GRCh37: Chr11:61205530 GRCh38: Chr11:61438058	SDHAF2	Y105*	Hereditary pheochromocytoma-paraganglioma, Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173286523.	NM_017841.4(SDHAF2):c.357C>G (p.Tyr119Ter) GRCh37: Chr11:61205572 GRCh38: Chr11:61438100	SDHAF2	Y119*	Hereditary cancer-predisposing syndrome	Likely pathogenic (Apr 6, 2022)	criteria provided, single submitter
Select item 106784024.	NC_000011.9:g.(?_61205087)_(61213543_?)del GRCh37: Chr11:61205087-61213543	SDHAF2		Hereditary pheochromocytoma-paraganglioma	Likely pathogenic (Oct 5, 2022)	criteria provided, single submitter

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