ClinVar for PubMed (Select 16405730) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2947049	NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)	SDHB (R94I)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 653952	NM_003001.5(SDHC):c.214C>T (p.Arg72Cys)	SDHC (R19C +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 523118	NM_003000.3(SDHB):c.201-4429_287-934del	SDHB	Deletion (splice acceptor variant +1 more)	Paragangliomas 4	GPathogenic
Select item 480794	NM_003000.3(SDHB):c.653G>C (p.Trp218Ser)	SDHB (W218S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 412474	NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)	SDHB (W47*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +4 more	GPathogenic
Select item 197210	NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	SDHB (R115*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic
Select item 184192	NM_003000.3(SDHB):c.24C>T (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	Carney-Stratakis syndrome +7 more	GBenign/Likely benign
Select item 142763	NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	SDHB (R46*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic
Select item 44646	NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)	SDHB (W200*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +4 more	GPathogenic/Likely pathogenic
Select item 29896	NM_003000.3(SDHB):c.423+1G>A	SDHB	Single nucleotide variant (splice donor variant +1 more)	not provided +6 more	GPathogenic