C1861848[trait identifier] AND "Color Diagnostics, LLC DBA Color Healt - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 183795	NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)	SDHB (C253Y)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GPathogenic/Likely pathogenic
Select item 239443	NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)	SDHB (R242S)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GPathogenic
Select item 183735	NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	SDHB (R217C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GPathogenic/Likely pathogenic
Select item 239434	NM_003000.3(SDHB):c.606C>T (p.Asn202=)	SDHB	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 417302	NM_003000.3(SDHB):c.543C>T (p.Asp181=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely benign
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +7 more	GConflicting classifications of pathogenicity
Select item 44644	NM_003000.2(SDHB):c.424-16_424-14dup	SDHB	Microsatellite (intron variant)	Carney-Stratakis syndrome +7 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 258890	NM_003000.3(SDHB):c.424-37TTC[6]	SDHB	Microsatellite (intron variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 18454	NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	SDHB (V140F)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 183814	NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	SDHB (I127S)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GPathogenic/Likely pathogenic
Select item 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	Carney-Stratakis syndrome +9 more	GBenign/Likely benign
Select item 459138	NM_003000.3(SDHB):c.172A>G (p.Met58Val)	SDHB (M58V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 135192	NM_003000.3(SDHB):c.170A>G (p.His57Arg)	SDHB (H57R)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +7 more	GBenign/Likely benign
Select item 184148	NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	SDHB (G53E)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +8 more	GBenign/Likely benign
Select item 183793	NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	SDHB (R46Q)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GPathogenic/Likely pathogenic
Select item 142763	NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	SDHB (R46*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +5 more	GPathogenic
Select item 2774507	NM_003000.3(SDHB):c.73-2A>C	SDHB	Single nucleotide variant (splice acceptor variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GLikely pathogenic
Select item 184192	NM_003000.3(SDHB):c.24C>T (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GBenign/Likely benign
Select item 183749	NM_003000.3(SDHB):c.21C>T (p.Leu7=)	SDHB	Single nucleotide variant (synonymous variant)	Carney-Stratakis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 44641	NM_003000.3(SDHB):c.18C>A (p.Ala6=)	SDHB	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 428932	NM_003000.3(SDHB):c.3G>A (p.Met1Ile)	SDHB (M1I)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 4 +4 more	GPathogenic

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Items: 23