Related gene-specific medical variations for Gene (Select 54949) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244606	NC_000011.9:g.(?_61213393)_(61213543_?)dup	SDHAF2	Duplication	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3244605	NC_000011.9:g.(?_61213403)_(61213543_?)del	SDHAF2	Deletion	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3240438	NM_017841.4(SDHAF2):c.406del (p.Val136fs)	SDHAF2 (V136fs)	Deletion (frameshift variant)	Paragangliomas 2	GLikely pathogenic
Select item 2682076	NM_017841.4(SDHAF2):c.36+2T>C	SDHAF2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2678640	NM_017841.4(SDHAF2):c.371-4G>C	SDHAF2	Single nucleotide variant (intron variant)	Paragangliomas 2	GUncertain significance
Select item 2678639	NM_017841.4(SDHAF2):c.301C>T (p.Gln101Ter)	SDHAF2 (Q101*)	Single nucleotide variant (nonsense)	Paragangliomas 2	GLikely pathogenic
Select item 2678638	NM_017841.4(SDHAF2):c.173G>A (p.Arg58Lys)	SDHAF2 (R58K)	Single nucleotide variant (missense variant)	Paragangliomas 2	GUncertain significance
Select item 2678635	NM_017841.4(SDHAF2):c.71C>T (p.Pro24Leu)	SDHAF2 (P24L)	Single nucleotide variant (missense variant)	Paragangliomas 2	GUncertain significance
Select item 2574605	NM_017841.4(SDHAF2):c.232G>C (p.Gly78Arg)	SDHAF2 (G78R)	Single nucleotide variant (missense variant)	Paragangliomas 2	Gnot provided

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