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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 368793	NM_001365951.3(KIF1B):c.-260C>T	KIF1B, LOC129929363	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 291463	NM_001365951.3(KIF1B):c.-26TA[7]	KIF1B, LOC129388446	Microsatellite (5 prime UTR variant)	Charcot-Marie-Tooth disease type 2 +2 more	GLikely benign
Select item 1327573	NM_001365951.3(KIF1B):c.101C>T (p.Ser34Leu)	KIF1B, LOC129388446 (S34L)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 642188	NM_001365951.3(KIF1B):c.215G>A (p.Arg72His)	KIF1B (R72H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 129399	NM_001365951.3(KIF1B):c.285C>G (p.Ala95=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2A1 +6 more	GBenign
Select item 291467	NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1333979	NM_001365951.3(KIF1B):c.445A>G (p.Ile149Val)	KIF1B (I149V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 260542	NM_001365951.3(KIF1B):c.720+17C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2A1 +5 more	GBenign
Select item 291501	NM_001365951.3(KIF1B):c.883-10_883-7del	KIF1B	Deletion (intron variant)	Pheochromocytoma +2 more	GConflicting classifications of pathogenicity
Select item 291510	NM_001365951.3(KIF1B):c.1038-5del	KIF1B	Deletion (intron variant)	Neuroblastoma +3 more	GConflicting classifications of pathogenicity
Select item 408309	NM_001365951.3(KIF1B):c.1705A>G (p.Ile569Val)	KIF1B (I523V +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +4 more	GUncertain significance
Select item 177960	NM_001365951.3(KIF1B):c.1777+10C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign
Select item 1710958	NM_001365951.3(KIF1B):c.2115+6012C>G	KIF1B (S691R)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 1691542	NM_001365951.3(KIF1B):c.2115+6476T>C	KIF1B (V846A)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 1327571	NM_001365951.3(KIF1B):c.2115+6545C>A	KIF1B (P869Q)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 2503519	NM_001365951.3(KIF1B):c.2115+7115C>A	KIF1B (P1059Q)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 2577893	NM_001365951.3(KIF1B):c.2115+7270G>A	KIF1B (G1111S)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 2577888	NM_001365951.3(KIF1B):c.2115+7343G>A	KIF1B (R1135Q)	Single nucleotide variant (missense variant +1 more)	Pheochromocytoma	GUncertain significance
Select item 1320291	NM_001365951.3(KIF1B):c.2174C>T (p.Ala725Val)	KIF1B (A679V +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 373920	NM_001365951.3(KIF1B):c.2611G>A (p.Glu871Lys)	KIF1B (E825K +1 more)	Single nucleotide variant (missense variant)	Pain +6 more	GUncertain significance
Select item 845482	NM_001365951.3(KIF1B):c.2846C>T (p.Thr949Met)	KIF1B, LOC126805614 (T949M +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +3 more	GUncertain significance
Select item 1320293	NM_001365951.3(KIF1B):c.3163G>T (p.Gly1055Cys)	KIF1B (G1009C +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 1728203	NM_001365951.3(KIF1B):c.3290A>G (p.Lys1097Arg)	KIF1B (K1097R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1032652	NM_001365951.3(KIF1B):c.3434G>A (p.Arg1145His)	KIF1B (R1145H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 1738516	NM_001365951.3(KIF1B):c.4321A>T (p.Ile1441Phe)	KIF1B (I1395F +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +1 more	GUncertain significance
Select item 1423585	NM_001365951.3(KIF1B):c.4601T>G (p.Leu1534Arg)	KIF1B (L1488R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 917115	NM_001365951.3(KIF1B):c.4753-20C>A	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 695344	NM_001365951.3(KIF1B):c.5097-9C>T	KIF1B	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 1041517	NM_001365951.3(KIF1B):c.5176C>T (p.Arg1726Cys)	KIF1B (R1680C +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GUncertain significance
Select item 855407	NM_001365951.3(KIF1B):c.5203A>G (p.Ser1735Gly)	KIF1B (S1689G +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GConflicting classifications of pathogenicity
Select item 543240	NM_001365951.3(KIF1B):c.5225G>A (p.Arg1742His)	KIF1B (R1696H +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 1710968	NM_001365951.3(KIF1B):c.5300C>G (p.Thr1767Ser)	KIF1B (T1721S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 129401	NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=)	KIF1B	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2 +6 more	GBenign
Select item 291588	NM_001365951.3(KIF1B):c.*249CA[19]	KIF1B	Microsatellite (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291587	NM_001365951.3(KIF1B):c.*249CA[18]	KIF1B	Microsatellite (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291586	NM_001365951.3(KIF1B):c.*249CA[17]	KIF1B	Microsatellite (3 prime UTR variant)	not provided +3 more	GUncertain significance
Select item 291591	NM_001365951.3(KIF1B):c.*249CA[13]	KIF1B	Microsatellite (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291590	NM_001365951.3(KIF1B):c.*249CA[14]	KIF1B	Microsatellite (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291589	NM_001365951.3(KIF1B):c.*249CA[15]	KIF1B	Microsatellite (3 prime UTR variant)	Pheochromocytoma +3 more	GBenign
Select item 291592	NM_001365951.3(KIF1B):c.281_286del	KIF1B	Deletion (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291593	NM_001365951.3(KIF1B):c.281_282dup	KIF1B	Duplication (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291598	NM_001365951.3(KIF1B):c.*454CT[1]	KIF1B	Microsatellite (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291603	NM_001365951.3(KIF1B):c.*1104C>T	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291609	NM_001365951.3(KIF1B):c.*1363dup	KIF1B	Duplication (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291617	NM_001365951.3(KIF1B):c.*2032T>A	KIF1B	Single nucleotide variant (3 prime UTR variant)	Neuroblastoma +2 more	GUncertain significance
Select item 291636	NM_001365951.3(KIF1B):c.*2978dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291646	NM_001365951.3(KIF1B):c.*3644dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 291658	NM_001365951.3(KIF1B):c.*4127dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GLikely benign
Select item 291660	NM_001365951.3(KIF1B):c.*4279dup	KIF1B	Duplication (3 prime UTR variant)	Pheochromocytoma +2 more	GLikely benign
Select item 291666	NM_001365951.3(KIF1B):c.4664_4665insG	KIF1B	Insertion (3 prime UTR variant)	Pheochromocytoma +2 more	GUncertain significance
Select item 368794	NM_015074.3(KIF1B):c.*5019T>C	KIF1B	Single nucleotide variant	not provided +3 more	GBenign
Select item 376129	NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	MTOR (S2215Y)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 156703	NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	MTOR (S2215F)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 376457	NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)	MTOR (S2215T)	Single nucleotide variant (missense variant)	Neoplasm of uterine cervix +6 more	GLikely pathogenic
Select item 446276	NM_004958.4(MTOR):c.6625C>G (p.Leu2209Val)	MTOR (L2209V)	Single nucleotide variant (missense variant)	Metastatic pancreatic neuroendocrine tumours	GLikely pathogenic
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	LOC129929542, LOC129929541 +1 more	Deletion	Gastrointestinal stromal tumor +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 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	LOC129929542, LOC129929541 +1 more	Deletion	Paragangliomas 4 +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	Pheochromocytoma +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)	Pheochromocytoma +3 more	GUncertain significance
Select item 750812	NM_003000.3(SDHB):c.837A>G (p.Ser279=)	SDHB	Single nucleotide variant (synonymous variant)	Pheochromocytoma +3 more	GLikely benign
Select item 1475264	NM_003000.3(SDHB):c.835_836delinsCT (p.Ser279Leu)	SDHB (S279L)	Indel (missense variant)	Gastrointestinal stromal tumor +3 more	GUncertain significance
Select item 1468479	NM_003000.3(SDHB):c.835T>G (p.Ser279Ala)	SDHB (S279A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 657450	NM_003000.3(SDHB):c.835T>A (p.Ser279Thr)	SDHB (S279T)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GUncertain significance
Select item 2135130	NM_003000.3(SDHB):c.832G>C (p.Ala278Pro)	SDHB (A260P +1 more)	Single nucleotide variant (missense variant)	Pheochromocytoma +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)	Gastrointestinal stromal tumor +3 more	GLikely benign
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 855785	NM_003000.3(SDHB):c.823_825del (p.Glu275del)	SDHB (E275del)	Deletion (inframe_deletion)	Hereditary pheochromocytoma-paraganglioma +3 more	GUncertain significance
Select item 2943611	NM_003000.3(SDHB):c.824A>T (p.Glu275Val)	SDHB (E257V +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 4 +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)	Paragangliomas 4 +2 more	GUncertain significance
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 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 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)	Pheochromocytoma +2 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 486424	NM_003000.3(SDHB):c.818A>T (p.Tyr273Phe)	SDHB (Y273F)	Single nucleotide variant (missense variant)	Pheochromocytoma +4 more	GUncertain significance
Select item 459173	NM_003000.3(SDHB):c.816C>G (p.Thr272=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1445276	NM_003000.3(SDHB):c.815C>T (p.Thr272Ile)	SDHB (T272I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 412468	NM_003000.3(SDHB):c.814A>G (p.Thr272Ala)	SDHB (T272A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 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 1915803	NM_003000.3(SDHB):c.811G>C (p.Ala271Pro)	SDHB (A253P +1 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1392804	NM_003000.3(SDHB):c.809T>C (p.Met270Thr)	SDHB (M270T)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 239445	NM_003000.3(SDHB):c.808A>G (p.Met270Val)	SDHB (M270V)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +2 more	GUncertain significance
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)	Pheochromocytoma +2 more	GUncertain significance
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)	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 1062289	NM_003000.3(SDHB):c.793G>A (p.Glu265Lys)	SDHB (E265K)	Single nucleotide variant (missense variant)	Paragangliomas 4 +3 more	GUncertain significance

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