C0027672[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 874847	NM_001365951.3(KIF1B):c.1306A>G (p.Met436Val)	KIF1B (M390V +1 more)	Single nucleotide variant (missense variant)	Neuroblastoma +1 more	GUncertain significance
Select item 412475	NM_003000.3(SDHB):c.716C>T (p.Ser239Phe)	SDHB (S239F)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 293809	NM_003000.3(SDHB):c.700C>T (p.Leu234=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 183925	NM_003000.3(SDHB):c.541-2A>G	SDHB	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 412465	NM_003000.3(SDHB):c.541-3C>T	SDHB	Single nucleotide variant (intron variant)	Gastrointestinal stromal tumor +5 more	GConflicting classifications of pathogenicity
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +7 more	GConflicting classifications of pathogenicity
Select item 44644	NM_003000.2(SDHB):c.424-16_424-14dup	SDHB	Microsatellite (intron variant)	Carney-Stratakis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 412452	NM_003000.3(SDHB):c.395A>G (p.His132Arg)	SDHB (H132R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 135193	NM_003000.3(SDHB):c.344G>A (p.Arg115Gln)	SDHB (R115Q)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GUncertain significance
Select item 165179	NM_003000.3(SDHB):c.300T>C (p.Ser100=)	SDHB	Single nucleotide variant (synonymous variant)	Carney-Stratakis syndrome +9 more	GBenign/Likely benign
Select item 486417	NM_003000.3(SDHB):c.299C>G (p.Ser100Cys)	SDHB (S100C)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +6 more	GUncertain significance
Select item 239423	NM_003000.3(SDHB):c.178A>G (p.Thr60Ala)	SDHB (T60A)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +7 more	GConflicting classifications of pathogenicity
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 184148	NM_003000.3(SDHB):c.158G>A (p.Gly53Glu)	SDHB (G53E)	Single nucleotide variant (missense variant)	Carney-Stratakis syndrome +8 more	GBenign/Likely benign
Select item 239420	NM_003000.3(SDHB):c.113G>A (p.Arg38His)	SDHB (R38H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 459163	NM_003000.3(SDHB):c.65G>T (p.Cys22Phe)	LOC129929542, SDHB (C22F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GUncertain significance
Select item 220915	NM_003000.3(SDHB):c.65G>C (p.Cys22Ser)	LOC129929542, SDHB (C22S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 293816	NM_003000.3(SDHB):c.47C>G (p.Thr16Arg)	SDHB (T16R)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 184192	NM_003000.3(SDHB):c.24C>T (p.Ser8=)	SDHB	Single nucleotide variant (synonymous variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GBenign/Likely benign
Select item 183749	NM_003000.3(SDHB):c.21C>T (p.Leu7=)	SDHB	Single nucleotide variant (synonymous variant)	Carney-Stratakis syndrome +7 more	GConflicting classifications of pathogenicity
Select item 44641	NM_003000.3(SDHB):c.18C>A (p.Ala6=)	SDHB	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	not provided +9 more	GBenign/Likely benign
Select item 41757	NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)	MUTYH (R534Q +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 41756	NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)	MUTYH (L529M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +4 more	GBenign/Likely benign
Select item 184566	NM_001048174.2(MUTYH):c.1464G>A (p.Pro488=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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 142884	NM_001048174.2(MUTYH):c.1410G>C (p.Gln470His)	MUTYH (Q498H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
Select item 187040	NM_001048174.2(MUTYH):c.1392+2C>T	MUTYH	Single nucleotide variant (splice donor variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 182701	NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +3 more	GBenign/Likely benign
Select item 127838	NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)	MUTYH (E480del +7 more)	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GPathogenic
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	GPathogenic
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)	Familial adenomatous polyposis 2 +4 more	GUncertain significance
Select item 141933	NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)	MUTYH (R437Q +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134864	NM_001048174.2(MUTYH):c.1225C>T (p.Arg409Trp)	MUTYH (R437W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +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 +5 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)	Familial adenomatous polyposis 2 +4 more	GConflicting classifications of pathogenicity
Select item 135983	NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr)	MUTYH (A419T +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +5 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)	Familial adenomatous polyposis 2 +3 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)	not provided +4 more	GPathogenic
Select item 184102	NM_001048174.2(MUTYH):c.1107G>T (p.Leu369=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 135981	NM_001048174.2(MUTYH):c.1102+9A>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 134860	NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)	MUTYH (A357fs +7 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic/Likely pathogenic
Select item 297469	NM_001048174.2(MUTYH):c.1053G>A (p.Gln351=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 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)	Familial adenomatous polyposis 2 +3 more	GBenign
Select item 132703	NM_001048174.2(MUTYH):c.914-9C>T	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 41766	NM_001048174.2(MUTYH):c.850-2A>G	MUTYH	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 182694	NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)	MUTYH (R311K +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 41765	NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)	MUTYH (R309C +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer +5 more	GConflicting classifications of pathogenicity
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 182699	NM_001048174.2(MUTYH):c.729C>T (p.Asp243=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135990	NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	MUTYH (V246F +8 more)	Single nucleotide variant (missense variant +1 more)	Pilomatrixoma +3 more	GConflicting classifications of pathogenicity
Select item 185274	NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)	MUTYH (R241W +8 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 229778	NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr)	MUTYH (A227T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 232945	NM_001048174.2(MUTYH):c.492G>A (p.Lys164=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 2 +2 more	GUncertain significance
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 +4 more	GPathogenic/Likely pathogenic
Select item 138311	NM_001048174.2(MUTYH):c.421-4A>G	MUTYH	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 492040	NM_001048174.2(MUTYH):c.305-4C>G	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 216521	NM_001048174.2(MUTYH):c.305-7C>A	MUTYH	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 297470	NM_001048174.2(MUTYH):c.305-13C>G	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 138309	NM_001048174.2(MUTYH):c.264+11G>A	MUTYH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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 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	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)	Familial adenomatous polyposis 2 +2 more	GPathogenic
Select item 41758	NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys)	MUTYH (Y84C +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 420944	NM_001048174.2(MUTYH):c.128A>G (p.Gln43Arg)	MUTYH (Q71R +6 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 186772	NM_001128425.2(MUTYH):c.192C>T (p.Ala64=)	MUTYH	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 41760	NM_001048174.2(MUTYH):c.22G>A (p.Val8Met)	MUTYH (V22M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign
Select item 41759	NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)	MUTYH (P18L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 138307	NM_001128425.2(MUTYH):c.42C>T (p.Ile14=)	MUTYH	Single nucleotide variant (5 prime UTR variant +2 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 297472	NM_001048174.2(MUTYH):c.-6-14T>A	MUTYH	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 138310	NM_025077.4(TOE1):c.-45G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 428279	NM_025077.4(TOE1):c.52+77G>A	MUTYH, TOE1	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 368837	NM_003001.5(SDHC):c.-38G>A	MPZ, SDHC	Single nucleotide variant	Charcot-Marie-Tooth, Intermediate +11 more	GBenign
Select item 184591	NM_003001.5(SDHC):c.15G>T (p.Leu5Phe)	SDHC (L5F)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +4 more	GUncertain significance
Select item 44647	NM_003001.3(SDHC):c.20+11_20+12dup	MPZ, SDHC	Duplication (5 prime UTR variant +1 more)	Roussy-Lévy syndrome +9 more	GBenign
Select item 293316	NM_003001.5(SDHC):c.21-10dup	SDHC	Duplication (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 232892	NM_003001.5(SDHC):c.54T>G (p.Phe18Leu)	SDHC (F18L)	Single nucleotide variant (missense variant +3 more)	Hereditary pheochromocytoma-paraganglioma +3 more	GConflicting classifications of pathogenicity
Select item 239447	NM_003001.5(SDHC):c.120G>A (p.Arg40=)	SDHC	Single nucleotide variant (synonymous variant +2 more)	Paragangliomas 3 +5 more	GBenign/Likely benign
Select item 239448	NM_003001.5(SDHC):c.128A>G (p.Asn43Ser)	SDHC (N43S +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 293319	NM_003001.5(SDHC):c.489T>C (p.Ser163=)	SDHC (Y109H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 184146	NM_003001.5(SDHC):c.490A>T (p.Met164Leu)	SDHC (M164L +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 41772	NM_003001.5(SDHC):c.*78G>A	SDHC (A142T +2 more)	Single nucleotide variant (missense variant +1 more)	SDHC-related condition +3 more	GLikely benign
Select item 41773	NM_003001.5(SDHC):c.*84G>C	SDHC (E144Q +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 293327	NM_003001.5(SDHC):c.*409G>A	SDHC	Single nucleotide variant (3 prime UTR variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 286328	NM_024529.5(CDC73):c.-4dup	CDC73	Duplication (5 prime UTR variant)	Isolated Hyperparathyroidism +6 more	GConflicting classifications of pathogenicity
Select item 241495	NM_024529.5(CDC73):c.33C>T (p.Tyr11=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +4 more	GBenign/Likely benign
Select item 294410	NM_024529.5(CDC73):c.156A>G (p.Arg52=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 294411	NM_024529.5(CDC73):c.201G>A (p.Val67=)	CDC73	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 515469	NM_024529.5(CDC73):c.534A>G (p.Ser178=)	CDC73	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 2 with jaw tumors +4 more	GConflicting classifications of pathogenicity
Select item 294412	NM_024529.5(CDC73):c.659T>C (p.Val220Ala)	CDC73 (V220A)	Single nucleotide variant (missense variant)	Hyperparathyroidism 2 with jaw tumors +3 more	GUncertain significance
Select item 294413	NM_024529.5(CDC73):c.834C>T (p.Pro278=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +3 more	GConflicting classifications of pathogenicity
Select item 241498	NM_024529.5(CDC73):c.840G>A (p.Leu280=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +4 more	GLikely benign
Select item 412622	NM_024529.5(CDC73):c.1011C>T (p.Ala337=)	CDC73	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 1 +4 more	GConflicting classifications of pathogenicity
Select item 241490	NM_024529.5(CDC73):c.1032T>G (p.Val344=)	CDC73	Single nucleotide variant (synonymous variant)	Hyperparathyroidism 1 +5 more	GBenign/Likely benign
Select item 241491	NM_024529.5(CDC73):c.1185A>G (p.Gln395=)	CDC73	Single nucleotide variant (synonymous variant)	Parathyroid carcinoma +5 more	GBenign/Likely benign

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