"Institute for Biomarker Research, Medical Diagnostic Laboratories, L. - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 350408	NM_001127511.3(APC):c.166-28452G>C	APC	Single nucleotide variant (intron variant)	APC-Associated Polyposis Disorders +2 more	GBenign/Likely benign
Select item 1319316	NM_001127511.3(APC):c.166-28443T>A	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 135683	NM_000038.6(APC):c.120G>A (p.Glu40=)	APC	Single nucleotide variant (synonymous variant +2 more)	APC-Associated Polyposis Disorders +4 more	GBenign/Likely benign
Select item 236580	NM_000038.6(APC):c.277C>G (p.Leu93Val)	APC (L103V +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +4 more	GConflicting classifications of pathogenicity
Select item 41505	NM_000038.6(APC):c.388A>G (p.Ser130Gly)	APC (S130G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 215430	NM_000038.6(APC):c.573T>C (p.Tyr191=)	APC	Single nucleotide variant (synonymous variant +1 more)	Gastric cancer +9 more	GBenign/Likely benign
Select item 219463	NM_000038.6(APC):c.582G>A (p.Arg194=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 41509	NM_000038.6(APC):c.607C>G (p.Gln203Glu)	APC (Q203E +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 92349	NM_000038.6(APC):c.705A>G (p.Leu235=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GBenignFDA Recognized database
Select item 135720	NM_000038.6(APC):c.777G>T (p.Arg259=)	APC	Single nucleotide variant (synonymous variant +1 more)	APC-Associated Polyposis Disorders +5 more	GConflicting classifications of pathogenicity
Select item 3340077	NM_000038.6(APC):c.830G>A (p.Gly277Asp)	APC (G218D +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 386632	NM_000038.6(APC):c.933+5C>T	APC	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 232286	NM_000038.6(APC):c.947A>G (p.Tyr316Cys)	APC (Y298C +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 797	NM_000038.6(APC):c.1240C>T (p.Arg414Cys)	APC (R414C +10 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenignFDA Recognized database
Select item 1662484	NM_000038.6(APC):c.1338C>A (p.Ile446=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 42238	NM_000038.6(APC):c.1458T>C (p.Tyr486=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenignFDA Recognized database
Select item 482411	NM_000038.6(APC):c.1471G>A (p.Asp491Asn)	APC (D473N +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2683771	NM_000038.6(APC):c.1480A>T (p.Ser494Cys)	APC (S110C +18 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 490207	NM_000038.6(APC):c.1481G>A (p.Ser494Asn)	APC (S476N +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 3381826	NM_000038.6(APC):c.1573T>A (p.Cys525Ser)	APC (C141S +18 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 433623	NM_000038.6(APC):c.1596A>G (p.Gln532=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 41519	NM_000038.6(APC):c.1604C>T (p.Ser535Phe)	APC (S535F +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 42239	NM_000038.6(APC):c.1635G>A (p.Ala545=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenignFDA Recognized database
Select item 183766	NM_000038.6(APC):c.1695A>G (p.Glu565=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +4 more	GBenign
Select item 490227	NM_000038.6(APC):c.1811C>T (p.Ala604Val)	APC (A586V +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 82616	NM_000038.6(APC):c.1958+8T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +4 more	GBenign
Select item 133524	NM_000038.6(APC):c.1959G>A (p.Arg653=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +5 more	GBenign/Likely benign
Select item 136407	NM_000038.6(APC):c.2322C>T (p.Asp774=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 921760	NM_000038.6(APC):c.2513G>A (p.Arg838Lys)	APC (R747K +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 135690	NM_000038.6(APC):c.2593C>T (p.Pro865Ser)	APC (P865S +12 more)	Single nucleotide variant (missense variant)	APC-Associated Polyposis Disorders +6 more	GConflicting classifications of pathogenicity
Select item 41500	NM_000038.6(APC):c.2608C>T (p.Pro870Ser)	APC (P870S +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 1810755	NM_000038.6(APC):c.2934A>T (p.Gln978His)	APC (Q695H +18 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 216158	NM_000038.6(APC):c.3136A>G (p.Asn1046Asp)	APC (N1028D +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +3 more	GUncertain significance
Select item 132763	NM_000038.6(APC):c.3165A>T (p.Ile1055=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +5 more	GBenign/Likely benign
Select item 41523	NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)	APC (D1058G +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +6 more	GConflicting classifications of pathogenicity
Select item 41526	NM_000038.6(APC):c.3352A>G (p.Asn1118Asp)	APC (N1118D +12 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 132749	NM_000038.6(APC):c.3374T>C (p.Val1125Ala)	APC (V1125A +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 41502	NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)	APC (L1129S +12 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 181801	NM_000038.6(APC):c.3415A>C (p.Lys1139Gln)	APC (K1121Q +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1331099	NM_000038.6(APC):c.3421A>G (p.Thr1141Ala)	APC (T1015A +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 41527	NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)	APC (E1157del +12 more)	Microsatellite (inframe_deletion)	Familial adenomatous polyposis 1 +6 more	GBenign/Likely benign
Select item 92345	NM_000038.6(APC):c.3471G>A (p.Glu1157=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 133518	NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)	APC (R1153C +12 more)	Single nucleotide variant (missense variant)	not specified +10 more	GBenign/Likely benign
Select item 183767	NM_000038.6(APC):c.3732A>G (p.Gln1244=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +4 more	GBenign
Select item 133519	NM_000038.6(APC):c.3875C>T (p.Thr1292Met)	APC (T1274M +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 822	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	APC (I1307K +12 more)	Single nucleotide variant (missense variant)	Colorectal cancer, susceptibility to +8 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 829	NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)	APC (E1317Q +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 184249	NM_000038.6(APC):c.4005C>T (p.Ser1335=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +2 more	GBenign/Likely benign
Select item 181805	NM_000038.6(APC):c.4073C>T (p.Ala1358Val)	APC (A1340V +12 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 133510	NM_000038.6(APC):c.4237A>G (p.Met1413Val)	APC (M1395V +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 485126	NM_000038.6(APC):c.4296A>G (p.Pro1432=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 132705	NM_000038.6(APC):c.4326T>A (p.Pro1442=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +9 more	GBenign/Likely benign
Select item 141521	NM_000038.6(APC):c.4478C>T (p.Thr1493Met)	APC (T1475M +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 42242	NM_000038.6(APC):c.4479G>A (p.Thr1493=)	APC	Single nucleotide variant (synonymous variant)	not provided +9 more	GBenign
Select item 186645	NM_000038.6(APC):c.4534G>A (p.Asp1512Asn)	APC (D1494N +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2683763	NM_000038.6(APC):c.4589A>G (p.Glu1530Gly)	APC (E1146G +18 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 132688	NM_000038.6(APC):c.4893T>C (p.Ser1631=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 135705	NM_000038.6(APC):c.5009C>T (p.Ala1670Val)	APC (A1670V +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127302	NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)	APC (R1676G +12 more)	Single nucleotide variant (missense variant)	Familial multiple polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 42243	NM_000038.6(APC):c.5034G>A (p.Gly1678=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 350413	NM_000038.6(APC):c.5050T>C (p.Phe1684Leu)	APC (F1684L +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 232267	NM_000038.6(APC):c.5192C>G (p.Ala1731Gly)	APC (A1713G +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 230908	NM_000038.6(APC):c.5224C>T (p.Arg1742Cys)	APC (R1724C +12 more)	Single nucleotide variant (missense variant)	APC-Associated Polyposis Disorders +5 more	GUncertain significance
Select item 136410	NM_000038.6(APC):c.5250C>G (p.Val1750=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 42244	NM_000038.6(APC):c.5265G>A (p.Ala1755=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +4 more	GBenign/Likely benign
Select item 42245	NM_000038.6(APC):c.5268T>G (p.Ser1756=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 142238	NM_000038.6(APC):c.5274T>A (p.Ser1758=)	APC	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 141776	NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del)	APC (N1790del +12 more)	Microsatellite (inframe_deletion)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 21030	NM_000038.6(APC):c.5465T>A (p.Val1822Asp)	APC (V1804D +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenignFDA Recognized database
Select item 141574	NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del)	APC	Deletion (inframe_deletion)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 127306	NM_000038.6(APC):c.5528C>T (p.Pro1843Leu)	APC (P1843L +12 more)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 921188	NM_000038.6(APC):c.5827A>G (p.Arg1943Gly)	APC (R1817G +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 42247	NM_000038.6(APC):c.5880G>A (p.Pro1960=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 232146	NM_000038.6(APC):c.5918G>A (p.Ser1973Asn)	APC (S1955N +12 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 233160	NM_000038.6(APC):c.6127A>G (p.Ile2043Val)	APC (I2025V +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 183971	NM_000038.6(APC):c.6387G>A (p.Ser2129=)	APC	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 181779	NM_000038.6(APC):c.6526T>C (p.Leu2176=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +4 more	GConflicting classifications of pathogenicity
Select item 428094	NM_000038.6(APC):c.6588A>C (p.Lys2196Asn)	APC (K2178N +12 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +4 more	GUncertain significance
Select item 135713	NM_000038.6(APC):c.6609T>C (p.Val2203=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +5 more	GBenign/Likely benign
Select item 41511	NM_000038.6(APC):c.6821C>T (p.Ala2274Val)	APC (A2274V +12 more)	Single nucleotide variant (missense variant)	not specified +11 more	GBenign/Likely benign
Select item 470068	NM_000038.6(APC):c.6887G>A (p.Ser2296Asn)	APC (S2296N +12 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 136411	NM_000038.6(APC):c.6921G>A (p.Ser2307=)	APC	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 947173	NM_000038.6(APC):c.6982T>A (p.Ser2328Thr)	APC (S2227T +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 135716	NM_000038.6(APC):c.6985A>G (p.Ile2329Val)	APC (I2329V +12 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 232829	NM_000038.6(APC):c.7020C>T (p.Asn2340=)	APC	Single nucleotide variant (synonymous variant)	Classic or attenuated familial adenomatous polyposis +3 more	GBenign/Likely benign
Select item 41512	NM_000038.6(APC):c.7036C>T (p.Pro2346Ser)	APC (P2346S +12 more)	Single nucleotide variant (missense variant)	Hepatocellular carcinoma +8 more	GConflicting classifications of pathogenicity
Select item 42249	NM_000038.6(APC):c.7201C>T (p.Leu2401=)	APC	Single nucleotide variant (synonymous variant)	APC-Associated Polyposis Disorders +5 more	GBenign
Select item 236644	NM_000038.6(APC):c.7395T>C (p.Leu2465=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +4 more	GBenign/Likely benign
Select item 127318	NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)	APC (P2467T +12 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 41513	NM_000038.6(APC):c.7415C>T (p.Ala2472Val)	APC (A2472V +12 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 517004	NM_000038.6(APC):c.7425T>C (p.Thr2475=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +2 more	GBenign/Likely benign
Select item 2844401	NM_000038.6(APC):c.7428G>A (p.Arg2476=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 41514	NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)	APC (G2502S +12 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 127319	NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)	APC (R2505Q +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +4 more	GBenign/Likely benign
Select item 218507	NM_000038.6(APC):c.7573C>T (p.Arg2525Cys)	APC (R2507C +12 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 42250	NM_000038.6(APC):c.7704A>G (p.Gly2568=)	APC	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 184665	NM_000038.6(APC):c.7821C>T (p.Ser2607=)	APC	Single nucleotide variant (synonymous variant)	Classic or attenuated familial adenomatous polyposis +5 more	GBenign/Likely benign
Select item 380855	NM_000038.6(APC):c.7833A>G (p.Thr2611=)	APC	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 41516	NM_000038.6(APC):c.7862C>G (p.Ser2621Cys)	APC (S2621C +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1	GBenignFDA Recognized database
Select item 127322	NM_000038.6(APC):c.8068G>A (p.Ala2690Thr)	APC (A2690T +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign

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