"GeneDx"[submitter] AND "SDHB"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 201

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 1257785	NC_000001.11:g.17018618G>C	SDHB	Single nucleotide variant	not provided	GBenign
Select item 1292226	NM_003000.3(SDHB):c.*159del	SDHB	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 668544	NM_003000.3(SDHB):c.834T>C (p.Ala278=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 459174	NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)	SDHB (K274E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 1015358	NM_003000.3(SDHB):c.812C>T (p.Ala271Val)	SDHB (A271V)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 421424	NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)	SDHB (I263fs)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +4 more	GLikely pathogenic
Select item 945045	NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)	SDHB (G260R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 509480	NM_003000.3(SDHB):c.766-19del	LOC129929541, SDHB	Deletion (intron variant)	not specified +3 more	GLikely benign
Select item 385761	NM_003000.3(SDHB):c.766-20T>C	LOC129929541, SDHB	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 676873	NM_003000.3(SDHB):c.766-40C>T	LOC129929541, SDHB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 677081	NM_003000.3(SDHB):c.766-177dup	SDHB	Duplication (intron variant)	not provided	GBenign
Select item 1292471	NM_003000.3(SDHB):c.765+256C>G	SDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 420071	NM_003000.3(SDHB):c.746G>A (p.Cys249Tyr)	SDHB (C249Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 420730	NM_003000.3(SDHB):c.745T>C (p.Cys249Arg)	SDHB (C249R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 459169	NM_003000.3(SDHB):c.739A>G (p.Met247Val)	SDHB (M247V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 412482	NM_003000.3(SDHB):c.736A>G (p.Ile246Val)	SDHB (I246V)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 12781	NM_003000.3(SDHB):c.725G>A (p.Arg242His)	SDHB (R242H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GPathogenic/Likely pathogenic
Select item 239443	NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)	SDHB (R242S)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GPathogenic
Select item 186827	NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)	SDHB (R242C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 201607	NM_003000.3(SDHB):c.718_721del (p.Leu240fs)	SDHB (L240fs)	Deletion (frameshift variant)	Pheochromocytoma +4 more	GPathogenic
Select item 412475	NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)	SDHB (S239F)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +6 more	GUncertain significance
Select item 161385	NM_003000.3(SDHB):c.716C>G (p.Ser239Cys)	SDHB (S239C)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GUncertain significance
Select item 239438	NM_003000.3(SDHB):c.710C>G (p.Pro237Arg)	SDHB (P237R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 371795	NM_003000.3(SDHB):c.709C>T (p.Pro237Ser)	SDHB (P237S)	Single nucleotide variant (missense variant)	Ovarian cancer +5 more	GConflicting classifications of pathogenicity
Select item 826804	NM_003000.3(SDHB):c.705G>C (p.Gln235His)	SDHB (Q235H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 186390	NM_003000.3(SDHB):c.701T>A (p.Leu234Gln)	SDHB (L234Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 293809	NM_003000.3(SDHB):c.700C>T (p.Leu234=)	SDHB	Single nucleotide variant (synonymous variant)	Carney-Stratakis syndrome +6 more	GConflicting classifications of pathogenicity
Select item 459164	NM_003000.3(SDHB):c.695C>T (p.Ala232Val)	SDHB (A232V)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GUncertain significance
Select item 184933	NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)	SDHB (R230L)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GPathogenic/Likely pathogenic
Select item 142637	NM_003000.3(SDHB):c.689G>A (p.Arg230His)	SDHB (R230H)	Single nucleotide variant (missense variant)	Paragangliomas 4 +6 more	GPathogenic/Likely pathogenic
Select item 185077	NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	SDHB (R230C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
Select item 239437	NM_003000.3(SDHB):c.659T>C (p.Ile220Thr)	SDHB (I220T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 528738	NM_003000.3(SDHB):c.658A>G (p.Ile220Val)	SDHB (I220V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GUncertain significance
Select item 428923	NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)	SDHB (W218*)	Single nucleotide variant (nonsense)	Paragangliomas 4 +4 more	GPathogenic
Select item 412491	NM_003000.3(SDHB):c.650G>A (p.Arg217His)	SDHB (R217H)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 419507	NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)	SDHB (R217G)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GPathogenic
Select item 183735	NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	SDHB (R217C)	Single nucleotide variant (missense variant)	Paragangliomas 4 +5 more	GPathogenic/Likely pathogenic
Select item 450469	NM_003000.3(SDHB):c.643-10G>A	SDHB	Single nucleotide variant (intron variant)	Paragangliomas 4 +3 more	GUncertain significance
Select item 3378367	NM_003000.3(SDHB):c.643-11T>A	SDHB	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 695745	NM_003000.3(SDHB):c.642+325C>T	SDHB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1243400	NM_003000.3(SDHB):c.642+230T>C	SDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269910	NM_003000.3(SDHB):c.642+225A>G	SDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 371883	NM_003000.3(SDHB):c.642+17T>C	SDHB	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 459162	NM_003000.3(SDHB):c.642+4A>G	SDHB	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 449099	NM_003000.3(SDHB):c.642+2T>G	SDHB	Single nucleotide variant (splice donor variant)	Paragangliomas 4 +3 more	GPathogenic
Select item 438425	NM_003000.3(SDHB):c.642+1G>A	SDHB	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 480788	NM_003000.3(SDHB):c.642G>T (p.Gln214His)	SDHB (Q214H)	Single nucleotide variant (missense 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)	Hereditary pheochromocytoma-paraganglioma +6 more	GPathogenic/Likely pathogenic
Select item 2945656	NM_003000.3(SDHB):c.638T>G (p.Met213Arg)	SDHB (M213R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 826367	NM_003000.3(SDHB):c.637A>T (p.Met213Leu)	SDHB (M213L)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 935786	NM_003000.3(SDHB):c.635T>A (p.Leu212His)	SDHB (L212H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1025072	NM_003000.3(SDHB):c.629C>T (p.Ala210Val)	SDHB (A210V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 142653	NM_003000.3(SDHB):c.607_616del (p.Gly203fs)	SDHB (G203fs)	Deletion (frameshift variant)	Paragangliomas 4 +4 more	GPathogenic
Select item 239435	NM_003000.3(SDHB):c.607G>A (p.Gly203Arg)	SDHB (G203R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 239434	NM_003000.3(SDHB):c.606C>T (p.Asn202=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +4 more	GLikely benign
Select item 183747	NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	SDHB (W200C)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
Select item 230070	NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)	SDHB (C196Y)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 704428	NM_003000.3(SDHB):c.582C>T (p.Thr194=)	SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +4 more	GConflicting classifications of pathogenicity
Select item 528727	NM_003000.3(SDHB):c.581C>G (p.Thr194Ser)	SDHB (T194S)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 2497813	NM_003000.3(SDHB):c.577A>G (p.Ser193Gly)	SDHB (S175G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 186150	NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)	SDHB (C192R)	Single nucleotide variant (missense 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)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 412487	NM_003000.3(SDHB):c.544G>A (p.Gly182Arg)	SDHB (G182R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 417302	NM_003000.3(SDHB):c.543C>T (p.Asp181=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +4 more	GLikely benign
Select item 3363740	NM_003000.3(SDHB):c.542A>G (p.Asp181Gly)	SDHB (D163G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 412479	NM_003000.3(SDHB):c.541G>A (p.Asp181Asn)	SDHB (D181N)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GUncertain significance
Select item 183925	NM_003000.3(SDHB):c.541-2A>G	SDHB	Single nucleotide variant (splice acceptor variant)	Gastrointestinal stromal tumor +6 more	GPathogenic/Likely pathogenic
Select item 681580	NM_003000.3(SDHB):c.541-9C>T	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 668389	NM_003000.3(SDHB):c.541-10C>T	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +4 more	GLikely benign
Select item 681508	NM_003000.3(SDHB):c.541-11T>G	SDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259286	NM_003000.3(SDHB):c.541-43C>G	SDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269410	NM_003000.3(SDHB):c.540+256A>C	SDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244155	NM_003000.3(SDHB):c.540+218C>T	SDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 545881	NM_003000.3(SDHB):c.537dup (p.Leu180fs)	SDHB (L180fs)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +3 more	GPathogenic
Select item 239433	NM_003000.3(SDHB):c.530G>A (p.Arg177His)	SDHB (R177H)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 412469	NM_003000.3(SDHB):c.529C>T (p.Arg177Cys)	SDHB (R177C)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 459153	NM_003000.3(SDHB):c.527A>G (p.Glu176Gly)	SDHB (E176G)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GUncertain significance
Select item 412477	NM_003000.3(SDHB):c.521T>C (p.Ile174Thr)	SDHB (I174T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 659326	NM_003000.3(SDHB):c.520A>G (p.Ile174Val)	SDHB (I174V)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1810074	NM_003000.3(SDHB):c.506A>G (p.Gln169Arg)	SDHB (Q151R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320918	NM_003000.3(SDHB):c.493G>A (p.Glu165Lys)	SDHB (E165K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 528750	NM_003000.3(SDHB):c.491del (p.Gln164fs)	SDHB (Q164fs)	Deletion (frameshift variant)	Pheochromocytoma +3 more	GPathogenic
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 201606	NM_003000.3(SDHB):c.481del (p.Asp161fs)	SDHB (D161fs)	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 2430824	NM_003000.3(SDHB):c.464C>G (p.Pro155Arg)	SDHB (P137R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 852842	NM_003000.3(SDHB):c.458T>C (p.Ile153Thr)	SDHB (I153T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412492	NM_003000.3(SDHB):c.455C>T (p.Ser152Phe)	SDHB (S152F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 659744	NM_003000.3(SDHB):c.446A>G (p.Gln149Arg)	SDHB (Q149R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 412466	NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)	SDHB (Y147C)	Single nucleotide variant (missense variant)	Pheochromocytoma +7 more	GConflicting classifications of pathogenicity
Select item 459147	NM_003000.3(SDHB):c.436T>G (p.Phe146Val)	SDHB (F146V)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GUncertain significance
Select item 548757	NM_003000.3(SDHB):c.424-14_424-9dup	SDHB	Duplication (intron variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 44644	NM_003000.2(SDHB):c.424-16_424-14dup	SDHB	Microsatellite (intron variant)	Paragangliomas 4 +7 more	GConflicting classifications of pathogenicity
Select item 36770	NM_003000.3(SDHB):c.424-37TTC[10]	SDHB	Microsatellite (intron variant)	Gastrointestinal stromal tumor +7 more	GBenign/Likely benign
Select item 258890	NM_003000.3(SDHB):c.424-37TTC[6]	SDHB	Microsatellite (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 224006	NM_003000.3(SDHB):c.424-170T>G	SDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 224009	NM_003000.3(SDHB):c.423+260G>A	SDHB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238616	NM_003000.3(SDHB):c.423+83C>A	SDHB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508974	NM_003000.3(SDHB):c.423+15CT[2]	SDHB	Microsatellite (intron variant)	not specified +3 more	GLikely benign
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

<< First< Prev

Page of 3