"Eurofins Ntd Llc (ga)"[submitter] AND "SDHB"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity
Select item 197210	NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	SDHB (R115*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +5 more	GPathogenic
Select item 44642	NM_003000.3(SDHB):c.287-1G>C	SDHB	Single nucleotide variant (splice acceptor variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GPathogenic/Likely pathogenic
Select item 94093	NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)	SDHB (R38fs)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +3 more	GPathogenic
Select item 142764	NM_003000.3(SDHB):c.72+1G>T	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 220915	NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)	LOC129929542, SDHB (C22S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 184192	NM_003000.3(SDHB):c.24C>T (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 44641	NM_003000.3(SDHB):c.18C>A (p.Ala6=)	SDHB	Single nucleotide variant (synonymous variant)	Mitochondrial complex 2 deficiency, nuclear type 4 +8 more	GBenign
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +8 more	GBenign/Likely benign