ClinVar for Gene (Select 6390) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233926	NC_000001.10:g.(17355232_17359554)_(17359641_17371255)del	SDHB	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 3223024	NM_003000.3(SDHB):c.837A>C (p.Ser279=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223023	NM_003000.3(SDHB):c.791C>G (p.Ala264Gly)	SDHB (A246G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223022	NM_003000.3(SDHB):c.78C>T (p.Ser26=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223021	NM_003000.3(SDHB):c.757_760dup (p.Pro254fs)	SDHB (P236fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3223020	NM_003000.3(SDHB):c.725G>T (p.Arg242Leu)	SDHB (R224L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223019	NM_003000.3(SDHB):c.714C>T (p.Phe238=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223018	NM_003000.3(SDHB):c.70C>G (p.Gln24Glu)	LOC129929542, SDHB (Q24E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223017	NM_003000.3(SDHB):c.703C>G (p.Gln235Glu)	SDHB (Q217E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223015	NM_003000.3(SDHB):c.687dup (p.Arg230fs)	SDHB (R212fs +1 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3223014	NM_003000.3(SDHB):c.660T>C (p.Ile220=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223013	NM_003000.3(SDHB):c.651C>G (p.Arg217=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223012	NM_003000.3(SDHB):c.472A>G (p.Lys158Glu)	SDHB (K140E +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223011	NM_003000.3(SDHB):c.456C>T (p.Ser152=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223010	NM_003000.3(SDHB):c.446A>C (p.Gln149Pro)	SDHB (Q131P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223008	NM_003000.3(SDHB):c.37T>C (p.Leu13=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223006	NM_003000.3(SDHB):c.348G>T (p.Arg116Ser)	SDHB (R116S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223005	NM_003000.3(SDHB):c.222T>C (p.Asp74=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3223004	NM_003000.3(SDHB):c.167C>T (p.Pro56Leu)	SDHB (P56L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223003	NM_003000.3(SDHB):c.164A>C (p.Lys55Thr)	SDHB (K55T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3223002	NM_003000.3(SDHB):c.11T>C (p.Val4Ala)	SDHB (V4A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3158929	NM_003000.3(SDHB):c.130A>T (p.Ile44Phe)	SDHB (I44F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3076063	NM_003000.3(SDHB):c.81del (p.Gly28fs)	SDHB (G28fs)	Deletion (frameshift variant)	Hereditary pheochromocytoma-paraganglioma	GLikely pathogenic
Select item 3075408	NM_003000.3(SDHB):c.825G>A (p.Glu275=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3075391	NM_003000.3(SDHB):c.288C>T (p.Gly96=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3075205	NM_003000.3(SDHB):c.821A>T (p.Lys274Met)	SDHB (K256M +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3075087	NM_003000.3(SDHB):c.818A>G (p.Tyr273Cys)	SDHB (Y255C +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074941	NM_003000.3(SDHB):c.359A>T (p.Asn120Ile)	SDHB (N120I)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074812	NM_003000.3(SDHB):c.262A>G (p.Thr88Ala)	SDHB (T88A)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3074069	NM_003000.3(SDHB):c.200+5G>A	SDHB	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3073992	NM_003000.3(SDHB):c.476A>G (p.Lys159Arg)	SDHB (K141R +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3072659	NM_003000.3(SDHB):c.643-6T>C	SDHB	Single nucleotide variant (intron variant)	Hereditary pheochromocytoma-paraganglioma	GLikely benign
Select item 3071935	NM_003000.3(SDHB):c.562C>T (p.Leu188Phe)	SDHB (L170F +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3071913	NM_003000.3(SDHB):c.404T>C (p.Val135Ala)	SDHB (V135A)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071895	NM_003000.3(SDHB):c.672T>A (p.Asp224Glu)	SDHB (D206E +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071844	NM_003000.3(SDHB):c.-1G>A	SDHB	Single nucleotide variant (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma +1 more	GUncertain significance
Select item 3071481	NM_003000.3(SDHB):c.266T>G (p.Phe89Cys)	SDHB (F89C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3071038	NM_003000.3(SDHB):c.-9G>A	SDHB	Single nucleotide variant (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070639	NM_003000.3(SDHB):c.-13del	SDHB	Deletion (5 prime UTR variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3070294	NM_003000.3(SDHB):c.62C>A (p.Ala21Asp)	LOC129929542, SDHB (A21D)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3069734	NM_003000.3(SDHB):c.511C>G (p.Leu171Val)	SDHB (L153V +1 more)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 3029005	NM_003000.3(SDHB):c.200+8T>C	SDHB	Single nucleotide variant (intron variant)	SDHB-related disorder	GLikely benign
Select item 2954035	NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)	SDHB (D48fs)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2953788	NM_003000.3(SDHB):c.272G>C (p.Arg91Thr)	SDHB (R91T)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2953496	NM_003000.3(SDHB):c.690C>A (p.Arg230=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2952299	NM_003000.3(SDHB):c.154G>T (p.Ala52Ser)	SDHB (A52S)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2952214	NM_003000.3(SDHB):c.797T>A (p.Ile266Asn)	SDHB (I248N +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2951656	NM_003000.3(SDHB):c.233A>T (p.Lys78Met)	SDHB (K78M)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2951573	NM_003000.3(SDHB):c.128C>T (p.Ala43Val)	SDHB (A43V)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 2951425	NM_003000.3(SDHB):c.756C>T (p.Thr252=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2950880	NM_003000.3(SDHB):c.174G>A (p.Met58Ile)	SDHB (M58I)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2950703	NM_003000.3(SDHB):c.654G>C (p.Trp218Cys)	SDHB (W200C +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2950569	NM_003000.3(SDHB):c.424-5C>T	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2950230	NM_003000.3(SDHB):c.643-14C>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2950080	NM_003000.3(SDHB):c.500A>G (p.Lys167Arg)	SDHB (K167R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2949817	NM_003000.3(SDHB):c.784del (p.Ala262fs)	SDHB (A244fs +1 more)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2949787	NM_003000.3(SDHB):c.286+17T>C	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2949595	NM_003000.3(SDHB):c.385C>A (p.Pro129Thr)	SDHB (P129T)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +2 more	GUncertain significance
Select item 2949579	NM_003000.3(SDHB):c.146del (p.Pro49fs)	SDHB (P49fs)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2949466	NM_003000.3(SDHB):c.670G>A (p.Asp224Asn)	SDHB (D224N +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2949365	NM_003000.3(SDHB):c.766-4C>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2949287	NM_003000.3(SDHB):c.751_754del (p.Arg251fs)	SDHB (R233fs +1 more)	Deletion (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2949037	NM_003000.3(SDHB):c.541-12C>T	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948917	NM_003000.3(SDHB):c.201-1G>C	SDHB	Single nucleotide variant (splice acceptor variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2948913	NM_003000.3(SDHB):c.24C>G (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948912	NM_003000.3(SDHB):c.146C>A (p.Pro49Gln)	SDHB (P49Q)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2948839	NM_003000.3(SDHB):c.729C>T (p.Cys243=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948490	NM_003000.3(SDHB):c.67C>T (p.Leu23=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2948406	NM_003000.3(SDHB):c.286G>C (p.Gly96Arg)	SDHB (G96R)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2948181	NM_003000.3(SDHB):c.411G>C (p.Lys137Asn)	SDHB (K137N)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947609	NM_003000.3(SDHB):c.761C>G (p.Pro254Arg)	SDHB (P236R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947224	NM_003000.3(SDHB):c.236T>C (p.Ile79Thr)	SDHB (I79T)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947194	NM_003000.3(SDHB):c.478A>G (p.Lys160Glu)	SDHB (K160E +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947049	NM_003000.3(SDHB):c.281G>T (p.Arg94Ile)	SDHB (R94I)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2947022	NM_003000.3(SDHB):c.452A>G (p.Lys151Arg)	SDHB (K151R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2946972	NM_003000.3(SDHB):c.424-14_424-13insCTC	SDHB	Insertion (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2946935	NM_003000.3(SDHB):c.287-10_295del	SDHB	Deletion (splice acceptor variant)	Pheochromocytoma +2 more	GLikely pathogenic
Select item 2946630	NM_003000.3(SDHB):c.456C>A (p.Ser152=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 2946333	NM_003000.3(SDHB):c.283G>C (p.Glu95Gln)	SDHB (E95Q)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2946066	NM_003000.3(SDHB):c.273A>C (p.Arg91Ser)	SDHB (R91S)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2946014	NM_003000.3(SDHB):c.423+19C>T	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2945793	NM_003000.3(SDHB):c.766-18C>T	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2945656	NM_003000.3(SDHB):c.638T>G (p.Met213Arg)	SDHB (M213R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2945424	NM_003000.3(SDHB):c.788T>C (p.Ile263Thr)	SDHB (I263T +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2945382	NM_003000.3(SDHB):c.60A>C (p.Gly20=)	LOC129929542, SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2945347	NM_003000.3(SDHB):c.712T>G (p.Phe238Val)	SDHB (F238V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2945164	NM_003000.3(SDHB):c.287-20T>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2944626	NM_003000.3(SDHB):c.526G>A (p.Glu176Lys)	SDHB (E158K +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2943933	NM_003000.3(SDHB):c.80G>C (p.Arg27Pro)	SDHB (R27P)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2943668	NM_003000.3(SDHB):c.541-16T>G	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2943622	NM_003000.3(SDHB):c.556T>C (p.Cys186Arg)	SDHB (C168R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2943611	NM_003000.3(SDHB):c.824A>T (p.Glu275Val)	SDHB (E257V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2943394	NM_003000.3(SDHB):c.508dup (p.Tyr170fs)	SDHB (Y152fs +1 more)	Duplication (frameshift variant)	Pheochromocytoma +2 more	GPathogenic
Select item 2943055	NM_003000.3(SDHB):c.664T>C (p.Ser222Pro)	SDHB (S222P +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2942979	NM_003000.3(SDHB):c.777A>G (p.Pro259=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2942952	NM_003000.3(SDHB):c.73-19G>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2942785	NM_003000.3(SDHB):c.496G>C (p.Gly166Arg)	SDHB (G166R +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2942599	NM_003000.3(SDHB):c.598T>G (p.Trp200Gly)	SDHB (W182G +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2942161	NM_003000.3(SDHB):c.541-13_541-12insGCTCCTGCCTCTCTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCAAAGACTGAGACAGCTCCGCTGCCCGCTGAACTCCATCCTCCCGGCGGTCGGGCGGCGGCGGCTGCGC	SDHB	Microsatellite (intron variant)	Pheochromocytoma +2 more	GLikely benign

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