"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 438423	NM_003000.3(SDHB):c.490C>T (p.Gln164Ter)	SDHB (Q164*)	Single nucleotide variant (nonsense)	Hereditary pheochromocytoma-paraganglioma +1 more	GPathogenic
Select item 258890	NM_003000.3(SDHB):c.424-37TTC[6]	SDHB	Microsatellite (intron variant)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
Select item 36769	NM_003000.3(SDHB):c.423+20T>A	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 29896	NM_003000.3(SDHB):c.423+1G>A	SDHB	Single nucleotide variant (splice donor variant +1 more)	Pheochromocytoma +6 more	GPathogenic
Select item 197210	NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	SDHB (R115*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +5 more	GPathogenic
Select item 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 1285202	NM_003000.3(SDHB):c.200+1G>A	SDHB	Single nucleotide variant (splice donor variant)	Pheochromocytoma +2 more	GPathogenic
Select item 183749	NM_003000.3(SDHB):c.21C>T (p.Leu7=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +8 more	GBenign/Likely benign
Select item 44641	NM_003000.3(SDHB):c.18C>A (p.Ala6=)	SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +8 more	GBenign