C0027672[trait identifier] AND "Laboratory for Molecular Medicine, Mas - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1395

<< First< Prev

Page of 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 239441	NM_003000.3(SDHB):c.722A>G (p.Tyr241Cys)	SDHB (Y241C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 412493	NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)	SDHB (Q214R)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GLikely pathogenic
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 44646	NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)	SDHB (W200*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 825712	NM_003000.3(SDHB):c.541-1G>T	SDHB	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
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 36769	NM_003000.3(SDHB):c.423+20T>A	SDHB	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 44643	NM_003000.3(SDHB):c.415C>T (p.Leu139Phe)	SDHB (L139F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 183814	NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	SDHB (I127S)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GPathogenic/Likely pathogenic
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 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +8 more	GBenign/Likely benign
Select item 44642	NM_003000.3(SDHB):c.287-1G>C	SDHB	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 165180	NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)	SDHB (C93R)	Single nucleotide variant (missense variant)	Paragangliomas 4 +4 more	GConflicting classifications of pathogenicity
Select item 12778	NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	SDHB (R90*)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 178686	NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)	SDHB (L87S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 135192	NM_003000.3(SDHB):c.170A>G (p.His57Arg)	SDHB (H57R)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +7 more	GBenign/Likely benign
Select item 183793	NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	SDHB (R46Q)	Single nucleotide variant (missense variant)	Paragangliomas 4 +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 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 36768	NM_003000.3(SDHB):c.32G>A (p.Arg11His)	SDHB (R11H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 44641	NM_003000.3(SDHB):c.18C>A (p.Ala6=)	SDHB	Single nucleotide variant (synonymous variant)	Paragangliomas 4 +8 more	GBenign
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +8 more	GBenign/Likely benign
Select item 134866	NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)	MUTYH (G503E +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +6 more	GConflicting classifications of pathogenicity
Select item 219953	NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)	MUTYH (V493F +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 2 +3 more	GPathogenic/Likely pathogenic
Select item 5297	NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter)	MUTYH (E466* +8 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 183787	NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 141614	NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr)	MUTYH (A473T +8 more)	Single nucleotide variant (missense variant +1 more)	Gastric cancer +4 more	GUncertain significance
Select item 464690	NM_001048174.2(MUTYH):c.1272del (p.Tyr425fs)	MUTYH (Y436fs +6 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 134864	NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)	MUTYH (R437W +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 41753	NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)	MUTYH (R426C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41752	NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)	MUTYH (L420M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 127831	NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs)	MUTYH (E383fs +7 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 142604	NM_001048174.2(MUTYH):c.1130C>T (p.Pro377Leu)	MUTYH (P391L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 5294	NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	MUTYH (G382D +8 more)	Single nucleotide variant (missense variant +1 more)	Familial colorectal cancer +7 more	GPathogenic/Likely pathogenic
Select item 141282	NM_001048174.2(MUTYH):c.1103-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic/Likely pathogenic
Select item 406844	NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe)	MUTYH (S372F +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 186251	NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41767	NM_001048174.2(MUTYH):c.930G>C (p.Gln310His)	MUTYH (Q338H +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign
Select item 184935	NM_001048174.2(MUTYH):c.901G>T (p.Val301Leu)	MUTYH (V329L +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135992	NM_001048174.2(MUTYH):c.849+3A>C	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 483890	NM_001048174.2(MUTYH):c.827G>A (p.Ser276Asn)	MUTYH (S304N +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 433934	NM_001048174.2(MUTYH):c.775del (p.Ala259fs)	MUTYH (A274fs +7 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 41764	NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln)	MUTYH (R274Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 449417	NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	MUTYH (R274W +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +6 more	GPathogenic/Likely pathogenic
Select item 135989	NM_001048174.2(MUTYH):c.616G>A (p.Val206Met)	MUTYH (V234M +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 142271	NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)	MUTYH (T232A +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 127847	NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)	MUTYH (I223V +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 141400	NM_001048174.2(MUTYH):c.524G>C (p.Arg175Pro)	MUTYH (R203P +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 406822	NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter)	MUTYH (E196* +7 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 533312	NM_001048174.2(MUTYH):c.479_492+1del	MUTYH	Deletion (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 187318	NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp)	MUTYH (R184W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 182689	NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	MUTYH (R182H +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GPathogenic
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 185653	NM_001048174.2(MUTYH):c.386C>T (p.Pro129Leu)	MUTYH (P157L +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 135986	NM_001048174.2(MUTYH):c.229G>A (p.Asp77Asn)	MUTYH (D105N +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 132760	NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 5296	NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter)	MUTYH (Y90* +5 more)	Single nucleotide variant (nonsense +2 more)	Familial colorectal cancer +4 more	GPathogenic/Likely pathogenic
Select item 184976	NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)	MUTYH (W103* +6 more)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 2 +2 more	GPathogenic/Likely pathogenic
Select item 185512	NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln)	MUTYH (R97Q +5 more)	Single nucleotide variant (missense variant +2 more)	Familial cancer of breast +4 more	GConflicting classifications of pathogenicity
Select item 140827	NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter)	MUTYH (R97* +6 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 479996	NM_001048174.2(MUTYH):c.203T>A (p.Phe68Tyr)	MUTYH (F96Y +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 41763	NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)	MUTYH (G25D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41759	NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	MUTYH (P18L +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 44647	NM_003001.3(SDHC):c.20+11_20+12dup	MPZ, SDHC	Duplication (5 prime UTR variant +1 more)	Charcot-Marie-Tooth, Intermediate +9 more	GBenign
Select item 41776	NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	SDHC (R15*)	Single nucleotide variant (nonsense +3 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 135194	NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)	SDHC (R50C +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary pheochromocytoma-paraganglioma +4 more	GConflicting classifications of pathogenicity
Select item 165182	NM_003001.5(SDHC):c.354T>C (p.Phe118=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 187084	NM_003001.5(SDHC):c.380A>G (p.His127Arg)	SDHC (H127R +7 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 183753	NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)	SDHC (R133* +7 more)	Single nucleotide variant (nonsense +2 more)	Paragangliomas 3 +5 more	GPathogenic
Select item 239455	NM_003001.5(SDHC):c.405+23C>T	SDHC	Single nucleotide variant (intron variant)	Paragangliomas 3 +4 more	GConflicting classifications of pathogenicity
Select item 184146	NM_003001.5(SDHC):c.490A>T (p.Met164Leu)	SDHC (M164L +10 more)	Single nucleotide variant (missense variant)	Paragangliomas 3 +6 more	GConflicting classifications of pathogenicity
Select item 296866	NM_000143.4(FH):c.1237-50TC[21]	FH	Microsatellite (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 296865	NM_000143.4(FH):c.1237-50TC[20]	FH	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 405939	NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	FH (Q386R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 133476	NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu)	ALK (D1529E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 133474	NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg)	ALK (K1491R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 335694	NM_004304.5(ALK):c.3375C>A (p.Gly1125=)	ALK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259266	NM_004304.5(ALK):c.1500A>G (p.Gln500=)	ALK	Single nucleotide variant (synonymous variant)	Neuroblastoma, susceptibility to, 3 +3 more	GBenign
Select item 133480	NM_004304.5(ALK):c.932G>A (p.Arg311His)	ALK (R311H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 259274	NM_004304.5(ALK):c.702T>A (p.Pro234=)	ALK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 259269	NM_004304.5(ALK):c.27C>G (p.Leu9=)	ALK	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 183700	NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)	EPCAM (M115T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 90832	NM_000251.3(MSH2):c.1A>C (p.Met1Leu)	MSH2 (M1L)	Single nucleotide variant (missense variant +2 more)	Lynch syndrome	GUncertain significance
Select item 42497	NM_000251.3(MSH2):c.51C>T (p.Val17=)	MSH2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 127652	NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)	MSH2 (Q24*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome +5 more	GConflicting classifications of pathogenicity
Select item 408478	NM_000251.3(MSH2):c.85A>T (p.Lys29Ter)	MSH2 (K29*)	Single nucleotide variant (nonsense +1 more)	Lynch syndrome +2 more	GPathogenic/Likely pathogenic
Select item 91267	NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)	MSH2 (T33P)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +7 more	GConflicting classifications of pathogenicity
Select item 90619	NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)	MSH2 (Y43C)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome 1 +8 more	GConflicting classifications of pathogenicity
Select item 90654	NM_000251.3(MSH2):c.138C>G (p.His46Gln)	MSH2 (H46Q)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome	GLikely benign
Select item 135854	NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)	MSH2 (E56K)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 36573	NM_000251.3(MSH2):c.211+9C>G	MSH2	Single nucleotide variant (intron variant)	Lynch syndrome	GBenign
Select item 90892	NM_000251.3(MSH2):c.212-1G>A	MSH2	Single nucleotide variant (splice acceptor variant +1 more)	Lynch syndrome	GPathogenic
Select item 36575	NM_000251.3(MSH2):c.304G>A (p.Val102Ile)	MSH2 (V102I +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GLikely benign
Select item 36577	NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)	MSH2 (N127S +1 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GBenign
Select item 91097	NM_000251.3(MSH2):c.435T>G (p.Ile145Met)	MSH2 (I145M +1 more)	Single nucleotide variant (missense variant)	Breast carcinoma +9 more	GConflicting classifications of pathogenicity
Select item 450032	NM_000251.3(MSH2):c.645+2T>C	MSH2	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 14