"Myriad Genetics, Inc."[submitter] AND "SDHB"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2674423	NM_003000.3(SDHB):c.774_778del (p.Asn258fs)	SDHB (N240fs +1 more)	Deletion (frameshift variant)	Paragangliomas 4	GLikely pathogenic
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 186827	NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)	SDHB (R242C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 12782	NM_003000.3(SDHB):c.716_719del (p.Ser239fs)	SDHB (S239fs)	Microsatellite (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GPathogenic
Select item 371795	NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)	SDHB (P237S)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 142637	NM_003000.3(SDHB):c.689G>A (p.Arg230His)	SDHB (R230H)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GPathogenic/Likely pathogenic
Select item 185077	NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	SDHB (R230C)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 664580	NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)	SDHB (W218*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +2 more	GPathogenic
Select item 480809	NM_003000.3(SDHB):c.643-1G>A	SDHB	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely pathogenic
Select item 230243	NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	SDHB (Q214*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +6 more	GPathogenic/Likely pathogenic
Select item 2674424	NM_003000.3(SDHB):c.603G>A (p.Trp201Ter)	SDHB (W183* +1 more)	Single nucleotide variant (nonsense)	Paragangliomas 4	GPathogenic
Select item 183747	NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	SDHB (W200C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GPathogenic/Likely pathogenic
Select item 230070	NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)	SDHB (C196Y)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 186150	NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)	SDHB (C192R)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
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 528736	NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)	SDHB (Q169*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +2 more	GPathogenic
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 230224	NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)	SDHB (Q149*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +3 more	GPathogenic
Select item 29896	NM_003000.3(SDHB):c.423+1G>A	SDHB	Single nucleotide variant (splice donor variant +1 more)	Gastrointestinal stromal tumor +6 more	GPathogenic
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 412490	NM_003000.3(SDHB):c.352G>A (p.Asp118Asn)	SDHB (D118N)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GUncertain significance
Select item 184177	NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)	SDHB (N104fs)	Indel (frameshift variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GPathogenic
Select item 420072	NM_003000.3(SDHB):c.287-2A>G	SDHB	Single nucleotide variant (splice acceptor variant)	Paragangliomas 4 +5 more	GPathogenic
Select item 140773	NM_003000.3(SDHB):c.286+2T>A	SDHB	Single nucleotide variant (splice donor variant)	Paragangliomas 4 +4 more	GPathogenic
Select item 183757	NM_003000.3(SDHB):c.286+1G>A	SDHB	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 142111	NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)	SDHB (G96S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
Select item 1796021	NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)	SDHB (C93Y)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GPathogenic/Likely pathogenic
Select item 165180	NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)	SDHB (C93R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 12778	NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	SDHB (R90*)	Single nucleotide variant (nonsense)	Von Hippel-Lindau syndrome +7 more	GPathogenic
Select item 178686	NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)	SDHB (L87S)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GPathogenic/Likely pathogenic
Select item 1285202	NM_003000.3(SDHB):c.200+1G>A	SDHB	Single nucleotide variant (splice donor variant)	Pheochromocytoma +2 more	GPathogenic
Select item 185342	NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	SDHB (P56fs)	Deletion (frameshift variant)	Mitochondrial complex 2 deficiency, nuclear type 4 +7 more	GPathogenic
Select item 412478	NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)	SDHB (R46L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GPathogenic/Likely pathogenic
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 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 161386	NM_003000.3(SDHB):c.79C>G (p.Arg27Gly)	SDHB (R27G)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 12783	NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)	SDHB (R27*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +5 more	GPathogenic
Select item 142764	NM_003000.3(SDHB):c.72+1G>T	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 428928	NM_003000.3(SDHB):c.71dup (p.Ala25fs)	LOC129929542, SDHB (A25fs)	Duplication (frameshift variant)	Paragangliomas 4 +4 more	GPathogenic/Likely pathogenic
Select item 1381081	NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)	SDHB	Indel (nonsense +1 more)	Pheochromocytoma +2 more	GPathogenic
Select item 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	Paragangliomas 4 +9 more	GConflicting classifications of pathogenicity
Select item 1780382	NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)	SDHB (S8fs)	Deletion (frameshift variant)	Paragangliomas 4 +1 more	GPathogenic
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
Select item 2583584	NM_003000.3(SDHB):c.1A>G (p.Met1Val)	SDHB (M1V)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 4	GPathogenic

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Items: 46