"Ambry Genetics"[submitter] AND "APC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 264670	NM_001127511.3(APC):c.-195A>C	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 652807	NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG	APC, LOC129994371	Indel (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +1 more	GLikely pathogenic
Select item 243006	NM_001127511.3(APC):c.-192A>G	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GLikely pathogenic
Select item 1782658	NM_001127511.3(APC):c.-191T>G	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 243005	NM_001127511.3(APC):c.-191T>C	LOC129994371, APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GPathogenic/Likely pathogenic
Select item 243008	NM_001127511.3(APC):c.-190G>A	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GPathogenic/Likely pathogenic
Select item 371859	NM_001127511.3(APC):c.130G>A (p.Ala44Thr)	APC (A44T)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 1770126	NM_001127511.3(APC):c.132T>G (p.Ala44=)	APC	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1770816	NM_001127511.3(APC):c.135T>G (p.Arg45=)	APC	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 924201	NM_000038.6(APC):c.-3_1del (p.Met1fs)	APC (M1fs)	Deletion (frameshift variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2567050	NM_000038.6(APC):c.7G>A (p.Ala3Thr)	APC (A3T)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 1765422	NM_000038.6(APC):c.8C>T (p.Ala3Val)	APC (A3V)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis +1 more	GUncertain significance
Select item 801025	NM_000038.6(APC):c.10G>A (p.Ala4Thr)	APC (A4T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 487049	NM_000038.6(APC):c.10G>T (p.Ala4Ser)	APC (A4S)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 411481	NM_000038.6(APC):c.10G>C (p.Ala4Pro)	APC (A4P)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 537477	NM_000038.6(APC):c.14del (p.Ser5fs)	APC (S5fs)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 411429	NM_000038.6(APC):c.14C>A (p.Ser5Ter)	APC (S5*)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 236561	NM_000038.6(APC):c.14C>T (p.Ser5Leu)	APC (S5L)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 482302	NM_000038.6(APC):c.15A>G (p.Ser5=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 185596	NM_000038.6(APC):c.18T>C (p.Tyr6=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 411423	NM_000038.6(APC):c.20A>G (p.Asp7Gly)	APC (D7G)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 1692596	NM_000038.6(APC):c.21T>C (p.Asp7=)	APC	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 482401	NM_000038.6(APC):c.22C>T (p.Gln8Ter)	APC (Q8*)	Single nucleotide variant (intron variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 836463	NM_000038.6(APC):c.23A>G (p.Gln8Arg)	APC (Q8R)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 1898613	NM_000038.6(APC):c.24G>A (p.Gln8=)	APC	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 3304960	NM_000038.6(APC):c.29T>C (p.Leu10Ser)	APC (L10S)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 628229	NM_000038.6(APC):c.32dup (p.Gln12fs)	APC (Q12fs)	Duplication (frameshift variant +2 more)	Familial adenomatous polyposis 1	GUncertain significance FDA Recognized database
Select item 3148043	NM_000038.6(APC):c.33G>A (p.Lys11=)	APC	Single nucleotide variant (synonymous variant +3 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 1731053	NM_000038.6(APC):c.33G>T (p.Lys11Asn)	APC (K11N)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 219870	NM_000038.6(APC):c.36A>G (p.Gln12=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign
Select item 486787	NM_000038.6(APC):c.42G>A (p.Glu14=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 418836	NM_000038.6(APC):c.44C>T (p.Ala15Val)	APC (A15V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1088406	NM_000038.6(APC):c.45A>C (p.Ala15=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 379467	NM_000038.6(APC):c.46C>T (p.Leu16=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 650835	NM_000038.6(APC):c.47T>C (p.Leu16Pro)	APC (L16P)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 2566992	NM_000038.6(APC):c.52A>T (p.Met18Leu)	APC (M18L)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 142353	NM_000038.6(APC):c.52A>G (p.Met18Val)	APC (M18V)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 41533	NM_000038.6(APC):c.53T>A (p.Met18Lys)	APC (M18K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 411541	NM_000038.6(APC):c.54G>A (p.Met18Ile)	APC (M18I)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 1749144	NM_000038.6(APC):c.56A>G (p.Glu19Gly)	APC (E19G)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis +1 more	GUncertain significance
Select item 1749761	NM_000038.6(APC):c.57G>A (p.Glu19=)	APC	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 859406	NM_000038.6(APC):c.57G>C (p.Glu19Asp)	APC (E19D)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3230813	NM_000038.6(APC):c.58A>G (p.Asn20Asp)	APC (N20D)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 186670	NM_000038.6(APC):c.60C>T (p.Asn20=)	APC	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
Select item 838438	NM_000038.6(APC):c.64A>C (p.Asn22His)	APC (N22H)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 487008	NM_000038.6(APC):c.64A>G (p.Asn22Asp)	APC (N22D)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 486734	NM_000038.6(APC):c.67C>G (p.Leu23Val)	APC (L23V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1757160	NM_000038.6(APC):c.70C>A (p.Arg24=)	APC	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 184702	NM_000038.6(APC):c.70C>T (p.Arg24Ter)	APC (R24*)	Single nucleotide variant (nonsense +2 more)	Hereditary cancer-predisposing syndrome +10 more	GConflicting classifications of pathogenicity
Select item 583191	NM_000038.6(APC):c.71G>T (p.Arg24Leu)	APC (R24L)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 236642	NM_000038.6(APC):c.71G>A (p.Arg24Gln)	APC (R24Q)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 470090	NM_000038.6(APC):c.74_75del (p.Gln25fs)	APC (Q25fs)	Deletion (frameshift variant +2 more)	Familial adenomatous polyposis 1 +7 more	GPathogenic
Select item 230133	NM_000038.6(APC):c.74A>G (p.Gln25Arg)	APC (Q25R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231784	NM_000038.6(APC):c.75A>G (p.Gln25=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +2 more	GBenign/Likely benign
Select item 482407	NM_000038.6(APC):c.76G>C (p.Glu26Gln)	APC (E26Q)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 629039	NM_000038.6(APC):c.78G>A (p.Glu26=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 185378	NM_000038.6(APC):c.79C>T (p.Leu27=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 925276	NM_000038.6(APC):c.81A>G (p.Leu27=)	APC	Single nucleotide variant (synonymous variant +2 more)	Classic or attenuated familial adenomatous polyposis +2 more	GBenign/Likely benign
Select item 925021	NM_000038.6(APC):c.81A>C (p.Leu27=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 3231771	NM_000038.6(APC):c.82G>C (p.Glu28Gln)	APC (E28Q)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 843865	NM_000038.6(APC):c.86A>T (p.Asp29Val)	APC (D29V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823153	NM_000038.6(APC):c.92C>G (p.Ser31Cys)	APC (S31C)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 428113	NM_000038.6(APC):c.93del (p.Asn32fs)	APC (N32fs)	Deletion (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 482511	NM_000038.6(APC):c.94A>T (p.Asn32Tyr)	APC (N32Y)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 141735	NM_000038.6(APC):c.94A>G (p.Asn32Asp)	APC (N32D)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 218010	NM_000038.6(APC):c.95A>G (p.Asn32Ser)	APC (N32S)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 3305451	NM_000038.6(APC):c.98A>C (p.His33Pro)	APC (H33P)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 763232	NM_000038.6(APC):c.102T>C (p.Leu34=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +2 more	GBenign/Likely benign
Select item 660487	NM_000038.6(APC):c.104C>A (p.Thr35Lys)	APC (T35K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 428154	NM_000038.6(APC):c.104del (p.Thr35fs)	APC (T35fs)	Deletion (frameshift variant +2 more)	not provided +2 more	GPathogenic
Select item 794091	NM_000038.6(APC):c.105A>C (p.Thr35=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 482402	NM_000038.6(APC):c.111G>A (p.Leu37=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 945535	NM_000038.6(APC):c.113A>C (p.Glu38Ala)	APC (E38A)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3305698	NM_000038.6(APC):c.115A>T (p.Thr39Ser)	APC (T39S)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 187036	NM_000038.6(APC):c.117T>C (p.Thr39=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 135683	NM_000038.6(APC):c.120G>A (p.Glu40=)	APC	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign/Likely benign
Select item 631238	NM_000038.6(APC):c.123A>G (p.Ala41=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 862175	NM_000038.6(APC):c.124T>G (p.Ser42Ala)	APC (S42A)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 2587028	NM_000038.6(APC):c.128A>G (p.Asn43Ser)	APC (N43S)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 857489	NM_000038.6(APC):c.130A>G (p.Met44Val)	APC (M44V)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 2574095	NM_000038.6(APC):c.135+1G>A	APC	Single nucleotide variant (splice donor variant +1 more)	Familial adenomatous polyposis 1 +1 more	GLikely pathogenic
Select item 1770580	NM_000038.6(APC):c.135+1G>C	APC	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 482476	NM_000038.6(APC):c.135+1G>T	APC	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 2587033	NM_000038.6(APC):c.135+5C>A	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 798017	NM_000038.6(APC):c.136-5A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 411538	NM_000038.6(APC):c.136-3C>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 482244	NM_000038.6(APC):c.136-1G>A	APC	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 819088	NM_000038.6(APC):c.138A>T (p.Glu46Asp)	APC (E46D +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819087	NM_000038.6(APC):c.138A>G (p.Glu46=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 665118	NM_000038.6(APC):c.138A>C (p.Glu46Asp)	APC (E46D +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 411459	NM_000038.6(APC):c.139G>A (p.Val47Ile)	APC (V57I +2 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 819274	NM_000038.6(APC):c.145A>T (p.Lys49Ter)	APC (K49* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 141368	NM_000038.6(APC):c.147_150del (p.Lys49fs)	APC (K59fs +2 more)	Deletion (frameshift variant +1 more)	not provided +4 more	GPathogenic
Select item 482285	NM_000038.6(APC):c.146A>C (p.Lys49Thr)	APC (K59T +2 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +4 more	GUncertain significance
Select item 141221	NM_000038.6(APC):c.146A>G (p.Lys49Arg)	APC (K49R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1773554	NM_000038.6(APC):c.148_149insTT (p.Gln50fs)	APC (Q25fs +2 more)	Insertion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 1966456	NM_000038.6(APC):c.149A>G (p.Gln50Arg)	APC (Q50R +2 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 487056	NM_000038.6(APC):c.151C>T (p.Leu51=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 482295	NM_000038.6(APC):c.153A>G (p.Leu51=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 490213	NM_000038.6(APC):c.154C>T (p.Gln52Ter)	APC (Q52* +2 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 1 +1 more	GPathogenic

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