"Sema4, Sema4"[submitter] AND "SDHB"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 371792	NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)	SDHB (T250I)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 459169	NM_003000.3(SDHB):c.739A>G (p.Met247Val)	SDHB (M247V)	Single nucleotide variant (missense variant)	SDHB-related disorder +5 more	GUncertain significance
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	Paragangliomas 4 +6 more	GPathogenic/Likely pathogenic
Select item 293809	NM_003000.3(SDHB):c.700C>T (p.Leu234=)	SDHB	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 412462	NM_003000.3(SDHB):c.591del (p.Ser198fs)	SDHB (S198fs)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +4 more	GPathogenic
Select item 459156	NM_003000.3(SDHB):c.552C>T (p.Tyr184=)	SDHB	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 1692737	NM_003000.3(SDHB):c.530G>T (p.Arg177Leu)	SDHB (R177L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 239433	NM_003000.3(SDHB):c.530G>A (p.Arg177His)	SDHB (R177H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GUncertain significance
Select item 528731	NM_003000.3(SDHB):c.523G>C (p.Glu175Gln)	SDHB (E175Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Paragangliomas 4 +7 more	GConflicting classifications of pathogenicity
Select item 1629741	NM_003000.3(SDHB):c.424-37TTC[11]	SDHB	Microsatellite (intron variant)	Paragangliomas 4 +3 more	GBenign/Likely benign
Select item 44644	NM_003000.2(SDHB):c.424-16_424-14dup	SDHB	Microsatellite (intron variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 36770	NM_003000.3(SDHB):c.424-37TTC[10]	SDHB	Microsatellite (intron variant)	Paragangliomas 4 +7 more	GBenign/Likely benign
Select item 36769	NM_003000.3(SDHB):c.423+20T>A	SDHB	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +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 41770	NM_003000.3(SDHB):c.403G>A (p.Val135Met)	SDHB (V135M)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 135193	NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)	SDHB (R115Q)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +6 more	GUncertain significance
Select item 417298	NM_003000.3(SDHB):c.287-4T>C	SDHB	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 459140	NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)	SDHB (K78R)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GUncertain significance
Select item 1692736	NM_003000.3(SDHB):c.201-7T>C	SDHB	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 239423	NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)	SDHB (T60A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +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)	not specified +8 more	GBenign/Likely benign
Select item 998298	NM_003000.3(SDHB):c.73-29del	SDHB	Deletion (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 220915	NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)	LOC129929542, SDHB (C22S)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 239430	NM_003000.3(SDHB):c.31C>T (p.Arg11Cys)	SDHB (R11C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 753895	NM_003000.3(SDHB):c.25T>C (p.Leu9=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +3 more	GConflicting classifications of pathogenicity
Select item 183749	NM_003000.3(SDHB):c.21C>T (p.Leu7=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GConflicting classifications of pathogenicity
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	Paragangliomas 4 +9 more	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 30