"Mendelics"[submitter] AND "SDHB"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584582	NM_003000.3(SDHB):c.769C>G (p.Leu257Val)	SDHB (L257V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 412464	NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)	SDHB (Y241D)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 412491	NM_003000.3(SDHB):c.650G>A (p.Arg217His)	SDHB (R217H)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 41771	NM_003000.3(SDHB):c.638T>C (p.Met213Thr)	SDHB (M213T)	Single nucleotide variant (missense variant)	Cowden syndrome +6 more	GUncertain significance
Select item 412462	NM_003000.3(SDHB):c.591del (p.Ser198fs)	SDHB (S198fs)	Deletion (frameshift variant)	SDHB-Related Disorders +4 more	GPathogenic
Select item 581998	NM_003000.3(SDHB):c.559A>G (p.Ile187Val)	SDHB (I187V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 584583	NM_003000.3(SDHB):c.540+11C>T	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 412466	NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)	SDHB (Y147C)	Single nucleotide variant (missense variant)	Cowden syndrome +7 more	GConflicting classifications of pathogenicity
Select item 36769	NM_003000.3(SDHB):c.423+20T>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 239429	NM_003000.3(SDHB):c.307A>G (p.Met103Val)	SDHB (M103V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 239424	NM_003000.3(SDHB):c.200+7A>G	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GUncertain significance
Select item 801453	NM_003000.3(SDHB):c.73-21G>T	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor	GBenign
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	SDHB-related condition +9 more	GConflicting classifications of pathogenicity
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	SDHB-related condition +9 more	GBenign/Likely benign