C1861848[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 459172	NM_003000.3(SDHB):c.782A>C (p.Lys261Thr)	SDHB (K261T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 371792	NM_003000.3(SDHB):c.749C>T (p.Thr250Ile)	SDHB (T250I)	Single nucleotide variant (missense variant)	Mitochondrial complex 2 deficiency, nuclear type 4 +4 more	GUncertain significance
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 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 412464	NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)	SDHB (Y241D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
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 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 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 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 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 41771	NM_003000.3(SDHB):c.638T>C (p.Met213Thr)	SDHB (M213T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 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 1752377	NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)	SDHB (G190E +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GPathogenic/Likely pathogenic
Select item 459161	NM_003000.3(SDHB):c.614A>G (p.Lys205Arg)	SDHB (K205R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 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 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 581998	NM_003000.3(SDHB):c.559A>G (p.Ile187Val)	SDHB (I187V)	Single nucleotide variant (missense variant)	Cowden syndrome +4 more	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 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 480839	NM_003000.3(SDHB):c.482A>G (p.Asp161Gly)	SDHB (D161G)	Single nucleotide variant (missense variant)	Pheochromocytoma +5 more	GUncertain significance
Select item 528726	NM_003000.3(SDHB):c.481G>A (p.Asp161Asn)	SDHB (D161N)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 459150	NM_003000.3(SDHB):c.472AAG[2] (p.Lys160del)	SDHB (K160del)	Microsatellite (inframe_deletion)	Gastrointestinal stromal tumor +4 more	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 480781	NM_003000.3(SDHB):c.457A>G (p.Ile153Val)	SDHB (I153V)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 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 1372931	NM_003000.3(SDHB):c.447G>T (p.Gln149His)	SDHB (Q149H)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 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 29896	NM_003000.3(SDHB):c.423+1G>A	SDHB	Single nucleotide variant (splice donor variant +1 more)	Paragangliomas 4 +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 41770	NM_003000.3(SDHB):c.403G>A (p.Val135Met)	SDHB (V135M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 824499	NM_003000.3(SDHB):c.400T>C (p.Tyr134His)	SDHB (Y134H)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GUncertain significance
Select item 569759	NM_003000.3(SDHB):c.398T>C (p.Met133Thr)	SDHB (M133T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 651338	NM_003000.3(SDHB):c.397A>G (p.Met133Val)	SDHB (M133V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412452	NM_003000.3(SDHB):c.395A>G (p.His132Arg)	SDHB (H132R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GUncertain significance
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 858190	NM_003000.3(SDHB):c.379A>G (p.Ile127Val)	SDHB (I127V)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GUncertain significance
Select item 412472	NM_003000.3(SDHB):c.379A>C (p.Ile127Leu)	SDHB (I127L)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 1056499	NM_003000.3(SDHB):c.374C>T (p.Ser125Leu)	SDHB (S125L)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 824010	NM_003000.3(SDHB):c.362T>C (p.Leu121Pro)	SDHB (L121P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +5 more	GUncertain significance
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 197210	NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	SDHB (R115*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +5 more	GPathogenic
Select item 656456	NM_003000.3(SDHB):c.323G>A (p.Gly108Asp)	SDHB (G108D)	Single nucleotide variant (missense variant)	Paragangliomas 4 +6 more	GUncertain significance
Select item 412463	NM_003000.3(SDHB):c.317A>G (p.Asn106Ser)	SDHB (N106S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +6 more	GUncertain significance
Select item 239429	NM_003000.3(SDHB):c.307A>G (p.Met103Val)	SDHB (M103V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 2678644	NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)	SDHB (C98R)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GPathogenic/Likely pathogenic
Select item 480784	NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)	SDHB (I97F)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GConflicting classifications of pathogenicity
Select item 1037544	NM_003000.3(SDHB):c.286+5G>A	SDHB	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 140773	NM_003000.3(SDHB):c.286+2T>A	SDHB	Single nucleotide variant (splice donor variant)	Gastrointestinal stromal tumor +4 more	GPathogenic
Select item 183757	NM_003000.3(SDHB):c.286+1G>A	SDHB	Single nucleotide variant (splice donor variant)	not provided +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 1493254	NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)	SDHB (R90L)	Single nucleotide variant (missense variant)	Paragangliomas 4 +2 more	GConflicting classifications of pathogenicity
Select item 201609	NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	SDHB (R90Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 528735	NM_003000.3(SDHB):c.263C>G (p.Thr88Ser)	SDHB (T88S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1418417	NM_003000.3(SDHB):c.256A>T (p.Thr86Ser)	SDHB (T86S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 863389	NM_003000.3(SDHB):c.241A>T (p.Asn81Tyr)	SDHB (N81Y)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 459140	NM_003000.3(SDHB):c.233A>G (p.Lys78Arg)	SDHB (K78R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 230694	NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)	SDHB (D74A)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GPathogenic/Likely pathogenic
Select item 412484	NM_003000.3(SDHB):c.214G>A (p.Val72Ile)	SDHB (V72I)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 820657	NM_003000.3(SDHB):c.211A>G (p.Met71Val)	SDHB (M71V)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 846985	NM_003000.3(SDHB):c.200+4A>C	SDHB	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 998297	NM_003000.3(SDHB):c.191A>G (p.Asp64Gly)	SDHB (D64G)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 239423	NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)	SDHB (T60A)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 459138	NM_003000.3(SDHB):c.172A>G (p.Met58Val)	SDHB (M58V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 185342	NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	SDHB (P56fs)	Deletion (frameshift variant)	Gastrointestinal stromal tumor +7 more	GPathogenic
Select item 39584	NM_003000.3(SDHB):c.143A>T (p.Asp48Val)	SDHB (D48V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GConflicting classifications of pathogenicity
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 +6 more	GPathogenic
Select item 449495	NM_003000.3(SDHB):c.130A>G (p.Ile44Val)	SDHB (I44V)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GUncertain significance
Select item 371801	NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)	SDHB (R38C)	Single nucleotide variant (missense variant)	Paragangliomas 4 +6 more	GUncertain significance
Select item 818274	NM_003000.3(SDHB):c.101C>G (p.Ala34Gly)	SDHB (A34G)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 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)	Paragangliomas 4 +5 more	GPathogenic
Select item 648497	NM_003000.3(SDHB):c.73-6T>A	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 998298	NM_003000.3(SDHB):c.73-29del	SDHB	Deletion (intron variant)	Pheochromocytoma +5 more	GConflicting classifications of pathogenicity
Select item 239440	NM_003000.3(SDHB):c.72+5G>A	LOC129929542, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 142764	NM_003000.3(SDHB):c.72+1G>T	LOC129929542, SDHB	Single nucleotide variant (splice donor variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GPathogenic/Likely pathogenic
Select item 839853	NM_003000.3(SDHB):c.71_72delinsCC (p.Gln24Pro)	LOC129929542, SDHB (Q24P)	Indel (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 452783	NM_003000.3(SDHB):c.67C>G (p.Leu23Val)	LOC129929542, SDHB (L23V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 528742	NM_003000.3(SDHB):c.65G>A (p.Cys22Tyr)	LOC129929542, SDHB (C22Y)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 459151	NM_003000.3(SDHB):c.50C>T (p.Thr17Ile)	LOC129929542, SDHB (T17I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 293816	NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)	SDHB (T16R)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 528747	NM_003000.3(SDHB):c.41C>T (p.Pro14Leu)	SDHB (P14L)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
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 822497	NM_003000.3(SDHB):c.29G>A (p.Arg10Lys)	SDHB (R10K)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GConflicting classifications of pathogenicity
Select item 567400	NM_003000.3(SDHB):c.23C>T (p.Ser8Phe)	SDHB (S8F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 649875	NM_003000.3(SDHB):c.14T>C (p.Val5Ala)	SDHB (V5A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 459136	NM_003000.3(SDHB):c.14T>G (p.Val5Gly)	SDHB (V5G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1051700	NM_003000.3(SDHB):c.7G>A (p.Ala3Thr)	SDHB (A3T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance

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