"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1493

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3074852	NM_000038.6(APC):c.-7G>T	APC	Single nucleotide variant (5 prime UTR variant +2 more)	Classic or attenuated familial adenomatous polyposis	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 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 3075517	NM_000038.6(APC):c.12T>C (p.Ala4=)	APC	Single nucleotide variant (synonymous variant +3 more)	Classic or attenuated familial adenomatous polyposis	GLikely benign
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 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)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign
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 921202	NM_000038.6(APC):c.55G>A (p.Glu19Lys)	APC (E19K)	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 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 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 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 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 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 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 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 660113	NM_000038.6(APC):c.115A>G (p.Thr39Ala)	APC (T39A)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis +1 more	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 2911022	NM_000038.6(APC):c.135+6_135+7del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1 +1 more	GConflicting classifications of pathogenicity
Select item 3071414	NM_000038.6(APC):c.136-6T>C	APC	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 1 +1 more	GLikely benign
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 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 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 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 820135	NM_000038.6(APC):c.181G>C (p.Ala61Pro)	APC (A36P +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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 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 216154	NM_000038.6(APC):c.209A>G (p.Glu70Gly)	APC (E70G +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +1 more	GUncertain significance
Select item 495354	NM_000038.6(APC):c.211C>T (p.Arg71Cys)	APC (R71C +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +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)	Classic or attenuated familial adenomatous polyposis +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)	Classic or attenuated familial adenomatous polyposis +9 more	GConflicting classifications of pathogenicity
Select item 702650	NM_000038.6(APC):c.216T>C (p.Leu72=)	APC	Single nucleotide variant (synonymous variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 more	GBenign/Likely benign
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 1042757	NM_000038.6(APC):c.220+6T>C	APC	Single nucleotide variant (intron variant)	Classic or attenuated familial adenomatous polyposis +2 more	GConflicting classifications of pathogenicity
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 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 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
Select item 1199077	NM_000038.6(APC):c.232G>C (p.Asp78His)	APC (D19H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 821110	NM_000038.6(APC):c.232G>A (p.Asp78Asn)	APC (D19N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	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)	APC-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 821433	NM_000038.6(APC):c.252A>G (p.Gly84=)	APC	Single nucleotide variant (synonymous variant +1 more)	Classic or attenuated familial adenomatous polyposis +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)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 3073027	NM_000038.6(APC):c.267A>C (p.Ser89=)	APC	Single nucleotide variant (synonymous variant +2 more)	Classic or attenuated familial adenomatous polyposis	GLikely benign
Select item 217952	NM_000038.6(APC):c.268A>G (p.Lys90Glu)	APC (K100E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 215558	NM_000038.6(APC):c.276C>T (p.Ser92=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +3 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 482294	NM_000038.6(APC):c.280C>T (p.Arg94Cys)	APC (R94C +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 489430	NM_000038.6(APC):c.281G>A (p.Arg94His)	APC (R104H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 482441	NM_000038.6(APC):c.284C>T (p.Ser95Phe)	APC (S95F +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +4 more	GUncertain significance
Select item 3069431	NM_000038.6(APC):c.294_296del (p.Ser98del)	APC (S108del +3 more)	Deletion (inframe_deletion +2 more)	Classic or attenuated familial adenomatous polyposis	GUncertain significance
Select item 469782	NM_000038.6(APC):c.295C>A (p.Arg99=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 181832	NM_000038.6(APC):c.296G>A (p.Arg99Gln)	APC (R109Q +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2757607	NM_000038.6(APC):c.309A>T (p.Val103=)	APC	Single nucleotide variant (synonymous variant +2 more)	Classic or attenuated familial adenomatous polyposis +2 more	GLikely benign
Select item 215561	NM_000038.6(APC):c.309A>G (p.Val103=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity
Select item 482406	NM_000038.6(APC):c.313A>G (p.Ser105Gly)	APC (S105G +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 469911	NM_000038.6(APC):c.316C>T (p.Arg106Cys)	APC (R106C +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 41524	NM_000038.6(APC):c.317G>A (p.Arg106His)	APC (R106H +3 more)	Single nucleotide variant (missense variant +1 more)	Familial multiple polyposis syndrome +5 more	GConflicting classifications of pathogenicity
Select item 631149	NM_000038.6(APC):c.320C>G (p.Ser107Cys)	APC (S107C +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
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 185623	NM_000038.6(APC):c.332G>A (p.Ser111Asn)	APC (S111N +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 411375	NM_000038.6(APC):c.343A>G (p.Met115Val)	APC (M115V +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +4 more	GUncertain significance
Select item 837824	NM_000038.6(APC):c.346G>C (p.Gly116Arg)	APC (G57R +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 more	GUncertain significance
Select item 490264	NM_000038.6(APC):c.347G>A (p.Gly116Asp)	APC (G116D +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 3071555	NM_000038.6(APC):c.349T>A (p.Ser117Thr)	APC (S117T +3 more)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis	GUncertain significance
Select item 3072526	NM_000038.6(APC):c.353T>C (p.Phe118Ser)	APC (F118S +3 more)	Single nucleotide variant (missense variant +2 more)	Classic or attenuated familial adenomatous polyposis	GUncertain significance
Select item 859634	NM_000038.6(APC):c.362G>A (p.Arg121Lys)	APC (R131K +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 220276	NM_000038.6(APC):c.362G>T (p.Arg121Ile)	APC (R121I +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 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 184585	NM_000038.6(APC):c.393T>C (p.Thr131=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 485106	NM_000038.6(APC):c.417A>G (p.Lys139=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 41529	NM_000038.6(APC):c.420G>C (p.Glu140Asp)	APC (E140D +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1	GLikely benign FDA Recognized database
Select item 861553	NM_000038.6(APC):c.421A>G (p.Arg141Gly)	APC (R116G +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +1 more	GUncertain significance
Select item 142574	NM_000038.6(APC):c.426_427del (p.Leu143fs)	APC (L143fs +3 more)	Deletion (frameshift variant +1 more)	not provided +5 more	GPathogenic
Select item 482475	NM_000038.6(APC):c.437C>T (p.Ala146Val)	APC (A146V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
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 485141	NM_000038.6(APC):c.445G>C (p.Asp149His)	APC (D159H +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 411430	NM_000038.6(APC):c.447C>A (p.Asp149Glu)	APC (D149E +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +2 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)	not provided +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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 580747	NM_000038.6(APC):c.457A>G (p.Lys153Glu)	APC (K163E +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 482239	NM_000038.6(APC):c.458A>G (p.Lys153Arg)	APC (K153R +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 220342	NM_000038.6(APC):c.459G>A (p.Lys153=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign
Select item 392037	NM_000038.6(APC):c.465A>G (p.Lys155=)	APC	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 469975	NM_000038.6(APC):c.468C>G (p.Asp156Glu)	APC (D156E +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +4 more	GConflicting classifications of pathogenicity
Select item 142459	NM_000038.6(APC):c.473A>T (p.Tyr158Phe)	APC (Y158F +3 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 1 +2 more	GUncertain significance
Select item 215564	NM_000038.6(APC):c.477C>T (p.Tyr159=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +3 more	GBenign/Likely benign
Select item 428108	NM_000038.6(APC):c.478G>A (p.Ala160Thr)	APC (A160T +3 more)	Single nucleotide variant (missense variant +1 more)	Classic or attenuated familial adenomatous polyposis +3 more	GUncertain significance
Select item 3075518	NM_000038.6(APC):c.480T>G (p.Ala160=)	APC	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 1 +1 more	GBenign/Likely benign
Select item 1017874	NM_000038.6(APC):c.531T>C (p.Asn177=)	APC	Single nucleotide variant (synonymous variant +1 more)	Familial adenomatous polyposis 1 +2 more	GConflicting classifications of pathogenicity
Select item 490302	NM_000038.6(APC):c.532-14A>T	APC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 490303	NM_000038.6(APC):c.532-9del	APC	Deletion (intron variant)	Familial adenomatous polyposis 1 +3 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 15