"GeneDx"[submitter] AND "APC"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1834

<< First< Prev

Page of 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 1195720	NC_000005.10:g.112707176C>T	APC	Single nucleotide variant	not provided	GLikely benign
Select item 506406	NM_000038.5(APC):c.-30712G>A	APC	Single nucleotide variant	not specified	GBenign
Select item 1187671	NC_000005.10:g.112707254C>G	APC	Single nucleotide variant	not provided	GLikely benign
Select item 506394	NM_000038.5(APC):c.-30642A>G	APC	Single nucleotide variant	not specified	GBenign
Select item 386417	NC_000005.10:g.112707375A>G	APC	Single nucleotide variant	Familial adenomatous polyposis 1 +1 more	GBenign
Select item 379248	NC_000005.10:g.112707473A>C	APC	Single nucleotide variant	not specified +2 more	GBenign
Select item 516071	NC_000005.10:g.112707477del	APC	Deletion	not specified +1 more	GBenign
Select item 469866	NC_000005.10:g.112707478G>C	APC, LOC129994371	Single nucleotide variant	Familial adenomatous polyposis 1 +1 more	GBenign
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 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 1514430	NM_001127511.3(APC):c.-188C>A	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 469858	NM_001127511.3(APC):c.-188C>T	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 469853	NM_001127511.3(APC):c.-181C>T	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 469844	NM_001127511.3(APC):c.-152C>T	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GBenign/Likely benign
Select item 1168689	NM_001127511.3(APC):c.-134_-133insG	APC	Insertion (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 516070	NM_001127511.3(APC):c.-126dup	APC	Duplication (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 379246	NM_001127511.3(APC):c.-133C>G	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 469835	NM_001127511.3(APC):c.-132G>T	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 1316326	NM_001127511.3(APC):c.-126_-125insGA	APC	Insertion (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 537576	NM_001127511.3(APC):c.-126G>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 469827	NM_001127511.3(APC):c.-126G>T	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1006524	NM_001127511.3(APC):c.-125A>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 537669	NM_001127511.3(APC):c.-125A>T	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2197988	NM_001127511.3(APC):c.-124C>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 439405	NM_001127511.3(APC):c.-31T>G	APC	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +2 more	GBenign
Select item 133505	NM_001127511.3(APC):c.78C>A (p.Ser26Arg)	APC (S26R)	Single nucleotide variant (missense variant +3 more)	Familial multiple polyposis syndrome +4 more	GBenign
Select item 514764	NM_001127511.3(APC):c.135T>C (p.Arg45=)	APC	Single nucleotide variant (synonymous variant +3 more)	not specified	GLikely benign
Select item 1282257	NM_001127511.3(APC):c.165+28891G>C	APC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386418	NM_001127511.3(APC):c.165+29214A>G	APC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 386419	NM_001127511.3(APC):c.166-29134C>T	APC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 516825	NM_001127511.3(APC):c.166-29015A>T	APC	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 506405	NM_001127511.3(APC):c.166-28922G>A	APC	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 512680	NM_001127511.3(APC):c.166-28674G>A	APC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 223431	NM_001127511.3(APC):c.166-28546T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 350408	NM_001127511.3(APC):c.166-28452G>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 245956	NM_000038.6(APC):c.-43A>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 381493	NM_000038.6(APC):c.-30C>G	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 420943	NM_000038.6(APC):c.-19G>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 419357	NM_000038.6(APC):c.-19G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 418823	NM_000038.6(APC):c.-19+3A>G	APC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 512734	NM_000038.6(APC):c.-19+18C>T	APC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 382842	NM_000038.6(APC):c.-19+20T>C	APC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 670292	NM_000038.6(APC):c.-19+45G>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 676802	NM_000038.6(APC):c.-19+53T>C	APC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136412	NM_000038.6(APC):c.-19+512G>A	APC (D13N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 383796	NM_000038.6(APC):c.-18-7C>G	APC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 418004	NM_000038.6(APC):c.-18-3dup	APC	Duplication (intron variant)	not specified	GLikely benign
Select item 377488	NM_000038.6(APC):c.-16C>T	APC	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 382248	NM_000038.6(APC):c.-14A>G	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 more	GLikely benign
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 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 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 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 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 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 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 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 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 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 3372986	NM_000038.6(APC):c.92C>T (p.Ser31Phe)	APC (S31F)	Single nucleotide variant (missense variant +3 more)	not provided	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 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 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 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 672308	NM_000038.6(APC):c.135+6A>G	APC	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 391675	NM_000038.6(APC):c.135+12G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GLikely benign
Select item 385351	NM_000038.6(APC):c.135+17T>G	APC	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1185989	NM_000038.6(APC):c.135+223T>G	APC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 82871	NM_000038.6(APC):c.136-230C>A	APC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 82873	NM_000038.6(APC):c.136-53T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GBenign
Select item 181830	NM_000038.6(APC):c.136-15T>A	APC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 490196	NM_000038.6(APC):c.136-12T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GLikely benign
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 265561	NM_000038.6(APC):c.136-2A>G	APC	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 1 +1 more	GPathogenic/Likely pathogenic
Select item 246492	NM_000038.6(APC):c.137A>G (p.Glu46Gly)	APC (E46G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 1317444	NM_000038.6(APC):c.158G>A (p.Gly53Glu)	APC (G28E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 482250	NM_000038.6(APC):c.163A>G (p.Ile55Val)	APC (I55V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 220546	NM_000038.6(APC):c.171T>C (p.Asp57=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign
Select item 185188	NM_000038.6(APC):c.181G>A (p.Ala61Thr)	APC (A61T +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 233688	NM_000038.6(APC):c.184TCT[1] (p.Ser63del)	APC (S63del +3 more)	Microsatellite (inframe_deletion +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 1057751	NM_000038.6(APC):c.206T>C (p.Leu69Ser)	APC (L10S +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 411444	NM_000038.6(APC):c.212G>A (p.Arg71His)	APC (R71H +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +9 more	GConflicting classifications of pathogenicity
Select item 1317341	NM_000038.6(APC):c.219A>G (p.Lys73=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 231074	NM_000038.6(APC):c.220G>T (p.Glu74Ter)	APC (E74* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 141515	NM_000038.6(APC):c.220+2T>A	APC	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 1 +2 more	GPathogenic/Likely pathogenic
Select item 217945	NM_000038.6(APC):c.220+124C>G	APC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676899	NM_000038.6(APC):c.220+249C>T	APC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192725	NM_000038.6(APC):c.220+279C>T	APC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207141	NM_000038.6(APC):c.221-302C>T	APC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 382326	NM_000038.6(APC):c.221-11A>G	APC	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign
Select item 391594	NM_000038.6(APC):c.221-5T>C	APC	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 184117	NM_000038.6(APC):c.221-2A>G	APC	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 1 +4 more	GPathogenic/Likely pathogenic
Select item 419952	NM_000038.6(APC):c.221A>C (p.Glu74Ala)	APC (E74A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 215555	NM_000038.6(APC):c.228C>T (p.Asn76=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +4 more	GBenign/Likely benign

<< First< Prev

Page of 19