"Color Diagnostics, LLC DBA Color Health"[submitter] AND "APC"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 3089

<< First< Prev

Page of 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 921400	NM_001127511.3(APC):c.-193G>A	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 243005	NM_001127511.3(APC):c.-191T>C	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 469858	NM_001127511.3(APC):c.-188C>T	APC, LOC129994371	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 469857	NM_001127511.3(APC):c.-187G>A	LOC129994371, APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 537576	NM_001127511.3(APC):c.-126G>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +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 469826	NM_001127511.3(APC):c.-126G>A	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
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 918736	NM_000038.6(APC):c.-11G>C	APC	Single nucleotide variant (intron variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 924049	NM_000038.6(APC):c.-8A>G	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 920314	NM_000038.6(APC):c.-4A>C	APC	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1331783	NM_000038.6(APC):c.-1G>A	APC	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1171793	NM_000038.6(APC):c.5C>G (p.Ala2Gly)	APC (A2G)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 490379	NM_000038.6(APC):c.9A>C (p.Ala3=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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)	not provided +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)	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)	Classic or attenuated familial adenomatous polyposis +3 more	GConflicting classifications of pathogenicity
Select item 2775129	NM_000038.6(APC):c.16T>C (p.Tyr6His)	APC (Y6H)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 185596	NM_000038.6(APC):c.18T>C (p.Tyr6=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 630969	NM_000038.6(APC):c.26_27insTTTA (p.Leu9fs)	APC (L9fs)	Insertion (frameshift variant +2 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 219870	NM_000038.6(APC):c.36A>G (p.Gln12=)	APC	Single nucleotide variant (synonymous variant +2 more)	not specified +4 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 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 490297	NM_000038.6(APC):c.51G>A (p.Lys17=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 142353	NM_000038.6(APC):c.52A>G (p.Met18Val)	APC (M18V)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +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)	not provided +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)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 921202	NM_000038.6(APC):c.55G>A (p.Glu19Lys)	APC (E19K)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +2 more	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 486734	NM_000038.6(APC):c.67C>G (p.Leu23Val)	APC (L23V)	Single nucleotide variant (missense variant +2 more)	APC-related disorder +3 more	GUncertain significance
Select item 184702	NM_000038.6(APC):c.70C>T (p.Arg24Ter)	APC (R24*)	Single nucleotide variant (nonsense +2 more)	Familial adenomatous polyposis 1 +10 more	GPathogenic/Likely pathogenic
Select item 231784	NM_000038.6(APC):c.75A>G (p.Gln25=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +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)	APC-related disorder +2 more	GUncertain significance
Select item 629039	NM_000038.6(APC):c.78G>A (p.Glu26=)	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)	Familial adenomatous polyposis 1 +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 1332542	NM_000038.6(APC):c.87T>C (p.Asp29=)	APC	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 218010	NM_000038.6(APC):c.95A>G (p.Asn32Ser)	APC (N32S)	Single nucleotide variant (intron variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
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 630724	NM_000038.6(APC):c.116C>G (p.Thr39Ser)	APC (T39S)	Single nucleotide variant (missense variant +2 more)	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 490189	NM_000038.6(APC):c.121G>A (p.Ala41Thr)	APC (A41T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 490194	NM_000038.6(APC):c.135+2T>C	APC	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 627986	NM_000038.6(APC):c.135+4T>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 490195	NM_000038.6(APC):c.135+8G>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 926379	NM_000038.6(APC):c.135+13_135+14del	APC	Microsatellite (intron variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 391675	NM_000038.6(APC):c.135+12G>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 490198	NM_000038.6(APC):c.136-20T>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 490197	NM_000038.6(APC):c.136-19A>G	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 918312	NM_000038.6(APC):c.136-13T>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 490196	NM_000038.6(APC):c.136-12T>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 925741	NM_000038.6(APC):c.136-4A>G	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 411538	NM_000038.6(APC):c.136-3C>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 482244	NM_000038.6(APC):c.136-1G>A	APC	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 1 +1 more	GPathogenic/Likely pathogenic
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)	Familial adenomatous polyposis 1 +1 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 490213	NM_000038.6(APC):c.154C>T (p.Gln52Ter)	APC (Q52* +2 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 927385	NM_000038.6(APC):c.155A>G (p.Gln52Arg)	APC (Q27R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 924168	NM_000038.6(APC):c.160A>C (p.Ser54Arg)	APC (S29R +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 629175	NM_000038.6(APC):c.170_175del (p.Asp57_Glu58del)	APC	Deletion (inframe_deletion +1 more)	APC-related disorder +2 more	GUncertain significance
Select item 220546	NM_000038.6(APC):c.171T>C (p.Asp57=)	APC	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1172172	NM_000038.6(APC):c.175G>C (p.Ala59Pro)	APC (A34P +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1779767	NM_000038.6(APC):c.176C>T (p.Ala59Val)	APC (A59V +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 925264	NM_000038.6(APC):c.178A>G (p.Met60Val)	APC (M35V +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 820135	NM_000038.6(APC):c.181G>C (p.Ala61Pro)	APC (A36P +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
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 2767875	NM_000038.6(APC):c.188C>T (p.Ser63Phe)	APC (S4F +3 more)	Single nucleotide variant (missense variant +2 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 644058	NM_000038.6(APC):c.197T>C (p.Ile66Thr)	APC (I76T +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 1697512	NM_000038.6(APC):c.203T>A (p.Leu68Ter)	APC (L43* +3 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 710302	NM_000038.6(APC):c.210G>A (p.Glu70=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 495354	NM_000038.6(APC):c.211C>T (p.Arg71Cys)	APC (R71C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 411360	NM_000038.6(APC):c.211C>A (p.Arg71Ser)	APC (R81S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 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)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 141515	NM_000038.6(APC):c.220+2T>A	APC	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 630818	NM_000038.6(APC):c.220+10A>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
Select item 630550	NM_000038.6(APC):c.220+16G>T	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +2 more	GLikely benign
Select item 920077	NM_000038.6(APC):c.220+18G>A	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 490237	NM_000038.6(APC):c.220+19T>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 372060	NM_000038.6(APC):c.221-16T>C	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 490239	NM_000038.6(APC):c.221-11A>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +1 more	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)	Hereditary cancer-predisposing syndrome +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 +3 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 628389	NM_000038.6(APC):c.223C>T (p.Leu75Phe)	APC (L85F +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 918519	NM_000038.6(APC):c.225T>C (p.Leu75=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 215555	NM_000038.6(APC):c.228C>T (p.Asn76=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 628873	NM_000038.6(APC):c.235A>G (p.Ser79Gly)	APC (S89G +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 923894	NM_000038.6(APC):c.238A>G (p.Ser80Gly)	APC (S55G +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 231828	NM_000038.6(APC):c.239G>C (p.Ser80Thr)	APC (S80T +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 230215	NM_000038.6(APC):c.251G>T (p.Gly84Val)	APC (G84V +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 31