"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SDHB"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 142637	NM_003000.3(SDHB):c.689G>A (p.Arg230His)	SDHB (R230H)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 230243	NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	SDHB (Q214*)	Single nucleotide variant (nonsense)	Carney-Stratakis syndrome +6 more	GPathogenic/Likely pathogenic
Select item 412487	NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)	SDHB (G182R)	Single nucleotide variant (missense variant)	Paragangliomas 4 +6 more	GUncertain significance
Select item 412492	NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)	SDHB (S152F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 36770	NM_003000.3(SDHB):c.424-37TTC[10]	SDHB	Microsatellite (intron variant)	not provided +7 more	GBenign/Likely benign
Select item 29896	NM_003000.3(SDHB):c.423+1G>A	SDHB	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas 4 +6 more	GPathogenic
Select item 412472	NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)	SDHB (I127L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 239429	NM_003000.3(SDHB):c.307A>G (p.Met103Val)	SDHB (M103V)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +9 more	GBenign/Likely benign
Select item 12778	NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	SDHB (R90*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +7 more	GPathogenic
Select item 185456	NM_003000.3(SDHB):c.193C>T (p.Leu65Phe)	SDHB (L65F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 185342	NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	SDHB (P56fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +7 more	GPathogenic
Select item 183793	NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	SDHB (R46Q)	Single nucleotide variant (missense variant)	Pheochromocytoma +7 more	GPathogenic/Likely pathogenic
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +6 more	GUncertain significance
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +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)	Gastrointestinal stromal tumor +9 more	GBenign/Likely benign