"Illumina Laboratory Services, Illumina"[submitter] AND "SDHB"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293807	NM_003000.3(SDHB):c.*133T>C	SDHB	Single nucleotide variant (3 prime UTR variant)	Carney-Stratakis syndrome +1 more	GUncertain significance
Select item 293808	NM_003000.3(SDHB):c.*102A>G	SDHB	Single nucleotide variant (3 prime UTR variant)	Carney-Stratakis syndrome +1 more	GUncertain significance
Select item 412475	NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)	SDHB (S239F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 293809	NM_003000.3(SDHB):c.700C>T (p.Leu234=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 183925	NM_003000.3(SDHB):c.541-2A>G	SDHB	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 412465	NM_003000.3(SDHB):c.541-3C>T	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 875443	NM_003000.3(SDHB):c.540+8G>T	SDHB	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
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 293810	NM_003000.3(SDHB):c.454T>C (p.Ser152Pro)	SDHB (S152P)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +1 more	GUncertain significance
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 258890	NM_003000.3(SDHB):c.424-37TTC[6]	SDHB	Microsatellite (intron variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 412452	NM_003000.3(SDHB):c.395A>G (p.His132Arg)	SDHB (H132R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 135193	NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)	SDHB (R115Q)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GUncertain significance
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 486417	NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)	SDHB (S100C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GUncertain significance
Select item 239423	NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)	SDHB (T60A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +7 more	GConflicting classifications of pathogenicity
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 239420	NM_003000.3(SDHB):c.113G>A (p.Arg38His)	SDHB (R38H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 459163	NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)	LOC129929542, SDHB (C22F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
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 293816	NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)	SDHB (T16R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
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 293817	NM_003000.3(SDHB):c.-37T>C	SDHB	Single nucleotide variant	Hereditary pheochromocytoma-paraganglioma +3 more	GBenign/Likely benign
Select item 293818	NM_003000.2(SDHB):c.-81G>T	SDHB	Single nucleotide variant	Pheochromocytoma +1 more	GUncertain significance
Select item 293819	NM_003000.2(SDHB):c.-135G>A	SDHB	Single nucleotide variant	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 293820	NM_003000.2(SDHB):c.-139G>T	SDHB	Single nucleotide variant	Hereditary pheochromocytoma-paraganglioma +2 more	GBenign
Select item 293821	NM_003000.2(SDHB):c.-142A>G	SDHB	Single nucleotide variant	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance

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Items: 31