"Sema4, Sema4"[submitter] AND "APC"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 537591	NM_001127511.3(APC):c.165+1G>A	APC	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance OUncertain significance
Select item 1692568	NM_001127511.3(APC):c.166-29015A>G	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 516825	NM_001127511.3(APC):c.166-29015A>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign
Select item 236561	NM_000038.6(APC):c.14C>T (p.Ser5Leu)	APC (S5L)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 482302	NM_000038.6(APC):c.15A>G (p.Ser5=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 1692596	NM_000038.6(APC):c.21T>C (p.Asp7=)	APC	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 218010	NM_000038.6(APC):c.95A>G (p.Asn32Ser)	APC (N32S)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 187036	NM_000038.6(APC):c.117T>C (p.Thr39=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +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 specified +4 more	GBenign/Likely benign
Select item 487024	NM_000038.6(APC):c.175G>A (p.Ala59Thr)	APC (A59T +2 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 490238	NM_000038.6(APC):c.220+4G>A	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 382326	NM_000038.6(APC):c.221-11A>G	APC	Single nucleotide variant (intron variant)	Classic or attenuated familial adenomatous polyposis +3 more	GLikely benign
Select item 215555	NM_000038.6(APC):c.228C>T (p.Asn76=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 821433	NM_000038.6(APC):c.252A>G (p.Gly84=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 135691	NM_000038.6(APC):c.259C>T (p.Leu87=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 420793	NM_000038.6(APC):c.262C>T (p.Arg88Trp)	APC (R88W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 236580	NM_000038.6(APC):c.277C>G (p.Leu93Val)	APC (L103V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 185837	NM_000038.6(APC):c.288T>C (p.Tyr96=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 135695	NM_000038.6(APC):c.295C>T (p.Arg99Trp)	APC (R99W +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 482497	NM_000038.6(APC):c.304T>C (p.Ser102Pro)	APC (S102P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41524	NM_000038.6(APC):c.317G>A (p.Arg106His)	APC (R106H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 427929	NM_000038.6(APC):c.323G>A (p.Gly108Glu)	APC (G108E +3 more)	Single nucleotide variant (missense variant +1 more)	Colorectal cancer, susceptibility to +3 more	GConflicting classifications of pathogenicity
Select item 41504	NM_000038.6(APC):c.379A>G (p.Ser127Gly)	APC (S127G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 133539	NM_000038.6(APC):c.385G>C (p.Glu129Gln)	APC (E129Q +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +3 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)	APC-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 802132	NM_000038.6(APC):c.423-4dup	APC	Duplication (intron variant)	Hereditary cancer-predisposing syndrome +7 more	GBenign/Likely benign
Select item 217981	NM_000038.6(APC):c.423-17T>A	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1692131	NM_000038.6(APC):c.423-5_423-4del	APC	Deletion (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 181781	NM_000038.6(APC):c.423-4del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 485091	NM_000038.6(APC):c.442C>A (p.Leu148Ile)	APC (L148I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 141928	NM_000038.6(APC):c.449A>G (p.Lys150Arg)	APC (K150R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 181782	NM_000038.6(APC):c.450A>G (p.Lys150=)	APC	Single nucleotide variant (synonymous variant +1 more)	Classic or attenuated familial adenomatous polyposis +4 more	GConflicting classifications of pathogenicity
Select item 1692147	NM_000038.6(APC):c.457A>C (p.Lys153Gln)	APC (K128Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 469975	NM_000038.6(APC):c.468C>G (p.Asp156Glu)	APC (D156E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1692217	NM_000038.6(APC):c.503del (p.Arg168fs)	APC (R109fs +3 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 411510	NM_000038.6(APC):c.532T>A (p.Phe178Ile)	APC (F178I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 183974	NM_000038.6(APC):c.564A>G (p.Gln188=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +3 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)	APC-Associated Polyposis Disorders +10 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)	Familial adenomatous polyposis 1 +5 more	GConflicting classifications of pathogenicity
Select item 470035	NM_000038.6(APC):c.608A>G (p.Gln203Arg)	APC (Q203R +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +3 more	GUncertain significance
Select item 537682	NM_000038.6(APC):c.618C>A (p.Thr206=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 387773	NM_000038.6(APC):c.672C>T (p.Ile224=)	APC	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 470063	NM_000038.6(APC):c.682A>G (p.Ile228Val)	APC (I228V +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +3 more	GUncertain significance
Select item 132732	NM_000038.6(APC):c.689G>A (p.Arg230His)	APC (R230H +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +2 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	GBenign FDA Recognized database
Select item 489491	NM_000038.6(APC):c.719C>G (p.Thr240Arg)	APC (T240R +3 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 572858	NM_000038.6(APC):c.730-5A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 411395	NM_000038.6(APC):c.749A>G (p.His250Arg)	APC (H232R +5 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 183928	NM_000038.6(APC):c.756C>T (p.Thr252=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 482278	NM_000038.6(APC):c.757G>T (p.Gly253Cys)	APC (G235C +5 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 185590	NM_000038.6(APC):c.759C>G (p.Gly253=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 135720	NM_000038.6(APC):c.777G>T (p.Arg259=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 572183	NM_000038.6(APC):c.817A>G (p.Thr273Ala)	APC (T255A +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 643920	NM_000038.6(APC):c.830G>C (p.Gly277Ala)	APC (G259A +5 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 421952	NM_000038.6(APC):c.835-4T>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 142278	NM_000038.6(APC):c.848G>A (p.Arg283Gln)	APC (R265Q +5 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 537537	NM_000038.6(APC):c.878G>A (p.Ser293Asn)	APC (S293N +6 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 418609	NM_000038.6(APC):c.911T>C (p.Leu304Pro)	APC (L286P +6 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 1692446	NM_000038.6(APC):c.934-368A>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 418926	NM_000038.6(APC):c.956del (p.Leu319fs)	APC (L260fs +6 more)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 236663	NM_000038.6(APC):c.986A>G (p.Asp329Gly)	APC (D311G +6 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 187754	NM_000038.6(APC):c.995G>A (p.Arg332Gln)	APC (R314Q +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 92339	NM_000038.6(APC):c.1005A>G (p.Leu335=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 380660	NM_000038.6(APC):c.1023A>G (p.Gln341=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 219991	NM_000038.6(APC):c.1050T>G (p.Ser350=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 411351	NM_000038.6(APC):c.1096G>A (p.Asp366Asn)	APC (D348N +6 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 143004	NM_000038.6(APC):c.1139G>A (p.Arg380Gln)	APC (R362Q +6 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1215384	NM_000038.6(APC):c.1171A>T (p.Ile391Phe)	APC (I108F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 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	GBenign FDA Recognized database
Select item 181785	NM_000038.6(APC):c.1241G>A (p.Arg414His)	APC (R396H +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +9 more	GConflicting classifications of pathogenicity
Select item 215553	NM_000038.6(APC):c.1242C>T (p.Arg414=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 217920	NM_000038.6(APC):c.1243G>A (p.Ala415Thr)	APC (A397T +10 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 230445	NM_000038.6(APC):c.1276G>T (p.Ala426Ser)	APC (A408S +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 1692121	NM_000038.6(APC):c.1279C>T (p.His427Tyr)	APC (H144Y +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 127276	NM_000038.6(APC):c.1279C>A (p.His427Asn)	APC (H427N +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 818787	NM_000038.6(APC):c.1281T>C (p.His427=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 1692132	NM_000038.6(APC):c.1313-11T>G	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 231435	NM_000038.6(APC):c.1334A>G (p.Gln445Arg)	APC (Q427R +10 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1692142	NM_000038.6(APC):c.1349T>G (p.Val450Gly)	APC (V167G +10 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 578359	NM_000038.6(APC):c.1385A>G (p.His462Arg)	APC (H462R +10 more)	Single nucleotide variant (missense variant)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 580513	NM_000038.6(APC):c.1409G>A (p.Gly470Glu)	APC (G452E +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 136405	NM_000038.6(APC):c.1419G>A (p.Gln473=)	APC	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 132722	NM_000038.6(APC):c.1441G>A (p.Val481Met)	APC (V481M +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +4 more	GUncertain significance
Select item 42238	NM_000038.6(APC):c.1458T>C (p.Tyr486=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1	GBenign FDA Recognized database
Select item 482429	NM_000038.6(APC):c.1459G>A (p.Gly487Arg)	APC (G487R +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 127277	NM_000038.6(APC):c.1462C>T (p.Leu488Phe)	APC (L488F +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 135684	NM_000038.6(APC):c.1488A>T (p.Thr496=)	APC	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 416718	NM_000038.6(APC):c.1491A>G (p.Leu497=)	APC	Single nucleotide variant (synonymous variant)	Classic or attenuated familial adenomatous polyposis +3 more	GBenign/Likely benign
Select item 185576	NM_000038.6(APC):c.1500T>C (p.Tyr500=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +2 more	GBenign/Likely benign
Select item 1692294	NM_000038.6(APC):c.1537G>A (p.Val513Ile)	APC (V230I +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 135685	NM_000038.6(APC):c.1554G>A (p.Thr518=)	APC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 183927	NM_000038.6(APC):c.1557A>G (p.Leu519=)	APC	Single nucleotide variant (synonymous variant)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign
Select item 1505401	NM_000038.6(APC):c.1566G>A (p.Met522Ile)	APC (M396I +12 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 537485	NM_000038.6(APC):c.1571G>A (p.Gly524Asp)	APC (G524D +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 489416	NM_000038.6(APC):c.1576A>G (p.Met526Val)	APC (M508V +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 219535	NM_000038.6(APC):c.1589T>C (p.Val530Ala)	APC (V512A +12 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 41519	NM_000038.6(APC):c.1604C>T (p.Ser535Phe)	APC (S535F +12 more)	Single nucleotide variant (missense variant)	APC-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 216151	NM_000038.6(APC):c.1606G>A (p.Glu536Lys)	APC (E518K +12 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 231235	NM_000038.6(APC):c.1609A>G (p.Ser537Gly)	APC (S519G +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 41520	NM_000038.6(APC):c.1631T>C (p.Ile544Thr)	APC (I544T +12 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity

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