Related gene-specific medical variations for Gene (Select 6391) - ClinVar - NCBI

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Links from Gene

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247759	NC_000001.10:g.(?_161326447)_(161332223_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 3247758	NC_000001.10:g.(?_161310364)_(161332223_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 3247757	NC_000001.10:g.(?_161293384)_(161293480_?)dup	SDHC	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 3247756	NC_000001.10:g.(?_161284196)_(161284215_?)del	SDHC	Deletion	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 3065204	NM_003001.5(SDHC):c.371_372del (p.Leu124fs)	SDHC (L103fs +7 more)	Microsatellite (frameshift variant +2 more)	Paragangliomas 3	GLikely benign
Select item 2689932	NM_003001.5(SDHC):c.488C>T (p.Ser163Phe)	SDHC (S110F +7 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2678650	NM_003001.5(SDHC):c.256G>C (p.Gly86Arg)	SDHC (G126R +7 more)	Single nucleotide variant (missense variant +2 more)	Gastrointestinal stromal tumor	GUncertain significance
Select item 1319169	NM_003001.5(SDHC):c.166A>T (p.Ile56Phe)	SDHC (I56F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 438444	NM_003001.5(SDHC):c.218G>A (p.Gly73Asp)	SDHC (G73D +5 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 438443	NM_003001.5(SDHC):c.407_*1del (p.Met136_Ter170delinsXaa)	SDHC	Deletion (inframe_indel +1 more)	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 239456	NM_003001.3(SDHC):c.406-?_*2318+?del	SDHC	Deletion	Gastrointestinal stromal tumor +1 more	GPathogenic
Select item 154115	GRCh38/hg38 1q23.3(chr1:161329273-161356785)x3	SDHC	Copy number gain	See cases	GLikely pathogenic