6390[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
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 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 149010	GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1	ACTL8, AKR7A2 +206 more	Copy number loss	See cases	GPathogenic
Select item 1257785	NC_000001.11:g.17018618G>C	SDHB	Single nucleotide variant	not provided	GBenign
Select item 165178	NM_003000.2(SDHB):c.159_184delinsGAACCTGTTCCTTTACTTGCCCCAA	SDHB	Indel (genic downstream transcript variant)	not specified	GUncertain significance
Select item 1292226	NM_003000.3(SDHB):c.*159del	SDHB	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 417580	NC_000001.10:g.(?_17345217)_(17380665_?)dup	LOC129929541, LOC129929542 +1 more	Duplication	Paragangliomas 4 +2 more	GUncertain significance
Select item 417579	NC_000001.11:g.(?_17018722)_(17018958_?)del	SDHB	Deletion	Paragangliomas 4 +2 more	GUncertain significance
Select item 239419	NM_003000.2(SDHB):c.-151_*159del	LOC129929541, LOC129929542 +1 more	Deletion	Pheochromocytoma +2 more	GPathogenic
Select item 293807	NM_003000.3(SDHB):c.*133T>C	SDHB	Single nucleotide variant (3 prime UTR variant)	Carney-Stratakis syndrome +1 more	GUncertain significance
Select item 293808	NM_003000.3(SDHB):c.*102A>G	SDHB	Single nucleotide variant (3 prime UTR variant)	Carney-Stratakis syndrome +1 more	GUncertain significance
Select item 1697862	NM_003000.3(SDHB):c.*30C>T	SDHB	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 649062	NC_000001.11:g.(?_17018871)_(17018968_?)del	LOC129929541, SDHB	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 646398	NC_000001.11:g.(?_17018871)_(17054029_?)del	LOC129929541, LOC129929542 +1 more	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 584357	NC_000001.10:g.(?_17345366)_(17380524_?)dup	LOC129929541, LOC129929542 +1 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 583909	NC_000001.11:g.(?_17018875)_(17033151_?)del	LOC129929541, SDHB	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 528765	NC_000001.10:g.(?_17345370)_(17355237_?)dup	LOC129929541, SDHB	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 468230	NC_000001.11:g.(?_17018875)_(17044894_?)del	LOC129929541, SDHB	Deletion	Paragangliomas 4	GPathogenic
Select item 584021	NC_000001.11:g.(?_17018881)_(17071491_?)del	LOC129929541, LOC129929542 +3 more	Deletion	Gastrointestinal stromal tumor +2 more	GPathogenic
Select item 822405	NM_003000.3(SDHB):c.841T>G (p.Ter281Glu)	SDHB	Single nucleotide variant (stop lost)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 750812	NM_003000.3(SDHB):c.837A>G (p.Ser279=)	SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 2619609	NM_003000.3(SDHB):c.836C>T (p.Ser279Leu)	SDHB (S261L +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1475264	NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)	SDHB (S279L)	Indel (missense variant)	Paragangliomas 4 +3 more	GUncertain significance
Select item 2619620	NM_003000.3(SDHB):c.835T>C (p.Ser279Pro)	SDHB (S261P +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1468479	NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)	SDHB (S279A)	Single nucleotide variant (missense variant)	Paragangliomas 4 +2 more	GUncertain significance
Select item 657450	NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)	SDHB (S279T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
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 2562720	NM_003000.3(SDHB):c.833C>T (p.Ala278Val)	SDHB (A260V +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2135130	NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)	SDHB (A260P +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1399652	NM_003000.3(SDHB):c.831del (p.Ala278fs)	SDHB (A278fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1138626	NM_003000.3(SDHB):c.828G>A (p.Lys276=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 855785	NM_003000.3(SDHB):c.823_825del (p.Glu275del)	SDHB (E275del)	Deletion (inframe_deletion)	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 2941695	NM_003000.3(SDHB):c.824A>C (p.Glu275Ala)	SDHB (E257A +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 2678646	NM_003000.3(SDHB):c.822G>T (p.Lys274Asn)	SDHB (K256N +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor	GUncertain significance
Select item 459174	NM_003000.3(SDHB):c.820A>G (p.Lys274Glu)	SDHB (K274E)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +4 more	GUncertain significance
Select item 1975969	NM_003000.3(SDHB):c.819T>C (p.Tyr273=)	SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
Select item 528724	NM_003000.3(SDHB):c.819T>A (p.Tyr273Ter)	SDHB (Y273*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 486424	NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)	SDHB (Y273F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 459173	NM_003000.3(SDHB):c.816C>G (p.Thr272=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +3 more	GLikely benign
Select item 1445276	NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)	SDHB (T272I)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GUncertain significance
Select item 412468	NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)	SDHB (T272A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 1762148	NM_003000.3(SDHB):c.813A>T (p.Ala271=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 1915803	NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)	SDHB (A253P +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 827459	NM_003000.3(SDHB):c.810G>A (p.Met270Ile)	SDHB (M270I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1392804	NM_003000.3(SDHB):c.809T>C (p.Met270Thr)	SDHB (M270T)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 239445	NM_003000.3(SDHB):c.808A>G (p.Met270Val)	SDHB (M270V)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 1761868	NM_003000.3(SDHB):c.806del (p.Met269fs)	SDHB (M269fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 640500	NM_003000.3(SDHB):c.805A>G (p.Met269Val)	SDHB (M269V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 412460	NM_003000.3(SDHB):c.802A>T (p.Lys268Ter)	SDHB (K268*)	Single nucleotide variant (nonsense)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1761690	NM_003000.3(SDHB):c.801del (p.Lys268_Met269insTer)	SDHB	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 570629	NM_003000.3(SDHB):c.801G>C (p.Lys267Asn)	SDHB (K267N)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 954035	NM_003000.3(SDHB):c.799A>G (p.Lys267Glu)	SDHB (K267E)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 1414953	NM_003000.3(SDHB):c.798C>G (p.Ile266Met)	SDHB (I266M)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 1095713	NM_003000.3(SDHB):c.798C>T (p.Ile266=)	SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +3 more	GLikely benign
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 2625090	NM_003000.3(SDHB):c.794A>G (p.Glu265Gly)	SDHB (E247G +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1062289	NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)	SDHB (E265K)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 1761257	NM_003000.3(SDHB):c.792A>G (p.Ala264=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 567410	NM_003000.3(SDHB):c.791C>A (p.Ala264Glu)	SDHB (A264E)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 1383549	NM_003000.3(SDHB):c.790G>A (p.Ala264Thr)	SDHB (A264T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 934413	NM_003000.3(SDHB):c.789del (p.Ile263fs)	SDHB (I263fs)	Deletion (frameshift variant)	Paragangliomas 4 +3 more	GConflicting classifications of pathogenicity
Select item 827319	NM_003000.3(SDHB):c.789T>C (p.Ile263=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +3 more	GLikely benign
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 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 1760984	NM_003000.3(SDHB):c.787A>G (p.Ile263Val)	SDHB (I245V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +3 more	GUncertain significance
Select item 1660248	NM_003000.3(SDHB):c.786T>C (p.Ala262=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +2 more	GLikely benign
Select item 528748	NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)	SDHB (I263fs)	Insertion (frameshift variant)	Gastrointestinal stromal tumor +2 more	GLikely pathogenic
Select item 1346701	NM_003000.3(SDHB):c.785C>T (p.Ala262Val)	SDHB (A262V)	Single nucleotide variant (missense variant)	Paragangliomas 4 +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 417297	NM_003000.3(SDHB):c.783A>G (p.Lys261=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
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 1760756	NM_003000.3(SDHB):c.781A>C (p.Lys261Gln)	SDHB (K243Q +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 576131	NM_003000.3(SDHB):c.780dup (p.Lys261fs)	SDHB (K261fs)	Duplication (frameshift variant)	Gastrointestinal stromal tumor +3 more	GLikely pathogenic
Select item 1924982	NM_003000.3(SDHB):c.779G>A (p.Gly260Glu)	SDHB (G260E +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
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 945045	NM_003000.3(SDHB):c.778G>C (p.Gly260Arg)	SDHB (G260R)	Single nucleotide variant (missense variant)	Paragangliomas 4 +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 1148191	NM_003000.3(SDHB):c.777A>T (p.Pro259=)	SDHB	Single nucleotide variant (synonymous variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 2927111	NM_003000.3(SDHB):c.776C>T (p.Pro259Leu)	SDHB (P241L +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 936683	NM_003000.3(SDHB):c.775C>A (p.Pro259Thr)	SDHB (P259T)	Single nucleotide variant (missense variant)	Paragangliomas 4 +2 more	GUncertain significance
Select item 654253	NM_003000.3(SDHB):c.773A>C (p.Asn258Thr)	SDHB (N258T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1043740	NM_003000.3(SDHB):c.772A>C (p.Asn258His)	SDHB (N258H)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 827221	NM_003000.3(SDHB):c.771G>C (p.Leu257=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1413816	NM_003000.3(SDHB):c.770T>A (p.Leu257Gln)	SDHB (L257Q)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 653894	NM_003000.3(SDHB):c.770T>G (p.Leu257Arg)	SDHB (L257R)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 584582	NM_003000.3(SDHB):c.769C>G (p.Leu257Val)	SDHB (L257V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 417304	NM_003000.3(SDHB):c.768T>C (p.Gly256=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +3 more	GLikely benign
Select item 2949365	NM_003000.3(SDHB):c.766-4C>A	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 1129006	NM_003000.3(SDHB):c.766-5T>C	SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 528758	NM_003000.3(SDHB):c.766-6T>C	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 1138562	NM_003000.3(SDHB):c.766-9T>G	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign
Select item 2421041	NM_003000.3(SDHB):c.766-11C>G	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +2 more	GLikely benign
Select item 2939494	NM_003000.3(SDHB):c.766-14T>C	LOC129929541, 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 2927642	NM_003000.3(SDHB):c.766-18C>G	LOC129929541, SDHB	Single nucleotide variant (intron variant)	Pheochromocytoma +2 more	GLikely benign

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