APC[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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

Result Filters

Search results

Items: 1 to 100 of 1675

<< First< Prev

Page of 17

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 6628551.	NC_000005.10:g.(?_112707312)_(112844126_?)del GRCh37: Chr5:112043009-112179823 GRCh38: Chr5:112707312-112844126	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Pathogenic (Oct 14, 2022)	criteria provided, single submitter
Select item 6568142.	NC_000005.10:g.(?_112707312)_(112844136_?)del GRCh37: Chr5:112043009-112179833 GRCh38: Chr5:112707312-112844136	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 6479563.	NC_000005.10:g.(?_112707312)_(112780913_?)del GRCh37: Chr5:112043009-112116610 GRCh38: Chr5:112707312-112780913	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 4696834.	NC_000005.10:g.(?_112707312)_(112780909_?)del GRCh37: Chr5:112043009-112116606 GRCh38: Chr5:112707312-112780909	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Pathogenic (Sep 9, 2021)	criteria provided, single submitter
Select item 4290405.	NC_000005.10:g.(?_112707312)_(112707902_?)del GRCh37: Chr5:112043009-112043599 GRCh38: Chr5:112707312-112707902	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Pathogenic (Oct 12, 2022)	criteria provided, single submitter
Select item 8346.	APC deletion GRCh37: Chr5:112043201-112181937 GRCh38: Chr5:112707504-112846240	APC		Familial adenomatous polyposis 1	Pathogenic (Oct 8, 1999)	no assertion criteria provided
Select item 2646707.	NM_001127511.3(APC):c.-195A>C GRCh37: Chr5:112043220 GRCh38: Chr5:112707523	APC		Hereditary cancer-predisposing syndrome	Pathogenic (Jan 2, 2020)	criteria provided, single submitter
Select item 6528078.	NM_001127511.3(APC):c.-192_-191delinsTAGCAAGGG GRCh37: Chr5:112043223-112043224 GRCh38: Chr5:112707526-112707527	APC		Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome	Likely pathogenic (Jul 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 2430079.	NM_001127511.3(APC):c.-192A>T GRCh37: Chr5:112043223 GRCh38: Chr5:112707526	APC		Familial adenomatous polyposis 1	Pathogenic (Jul 12, 2016)	no assertion criteria provided
Select item 24300610.	NM_001127511.3(APC):c.-192A>G GRCh37: Chr5:112043223 GRCh38: Chr5:112707526	APC		Familial adenomatous polyposis 1, not provided, Hereditary cancer-predisposing syndrome	Likely pathogenic (Feb 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178265811.	NM_001127511.3(APC):c.-191T>G GRCh37: Chr5:112043224 GRCh38: Chr5:112707527	APC		Hereditary cancer-predisposing syndrome	Likely pathogenic (Dec 1, 2021)	criteria provided, single submitter
Select item 24300512.	NM_001127511.3(APC):c.-191T>C GRCh37: Chr5:112043224 GRCh38: Chr5:112707527	APC		Familial adenomatous polyposis 1, not provided, Hereditary cancer-predisposing syndrome	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24300813.	NM_001127511.3(APC):c.-190G>A GRCh37: Chr5:112043225 GRCh38: Chr5:112707528	APC		Familial adenomatous polyposis 1	Pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65737314.	NC_000005.10:g.(?_112737024)_(112844136_?)del GRCh37: Chr5:112072721-112179833 GRCh38: Chr5:112737024-112844136	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 58434915.	NC_000005.9:g.(?_112072721)_(112090728_?)dup GRCh37: Chr5:112072721-112090728 GRCh38: Chr5:112737024-112755031	APC		Familial adenomatous polyposis 1	Likely pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 53770216.	NC_000005.10:g.(?_112737024)_(112766416_?)del GRCh37: Chr5:112072721-112102113 GRCh38: Chr5:112737024-112766416	APC		Familial adenomatous polyposis 1	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 46968717.	NC_000005.10:g.(?_112737024)_(112844132_?)del GRCh37: Chr5:112072721-112179829 GRCh38: Chr5:112737024-112844132	APC		Familial adenomatous polyposis 1	Pathogenic (May 30, 2017)	criteria provided, single submitter
Select item 46968618.	NC_000005.9:g.(?_112072721)_(112111440_?)dup GRCh37: Chr5:112072721-112111440 GRCh38: Chr5:112737024-112775743	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Likely pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 105041219.	NM_001127511.3(APC):c.166-28469_166-27547del GRCh37: Chr5:112073554-112074476 GRCh38: Chr5:112737857-112738779	APC		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105058420.	NM_001127511.3(APC):c.166-28467del GRCh37: Chr5:112073556 GRCh38: Chr5:112737859	APC		not provided	Pathogenic	no assertion criteria provided
Select item 41756121.	NC_000005.10:g.(?_112737859)_(112815593_?)del GRCh37: Chr5:112073556-112151290 GRCh38: Chr5:112737859-112815593	APC		Familial adenomatous polyposis 1	Pathogenic (Aug 7, 2016)	criteria provided, single submitter
Select item 23655522.	NM_000038.5(APC):c.-85_*2113del GRCh37: Chr5:112073556-112181936 GRCh38: Chr5:112737859-112846239	APC		Familial adenomatous polyposis 1	Pathogenic (Nov 1, 2018)	criteria provided, single submitter
Select item 41755623.	NC_000005.9:g.(?_112090570)_(112157688_?)dup GRCh37: Chr5:112090570-112157688 GRCh38: Chr5:112754873-112821991	APC		Familial adenomatous polyposis 1	Likely pathogenic (Dec 16, 2016)	criteria provided, single submitter
Select item 46968824.	Single allele GRCh38: Chr5:112754885-112767396	APC		Familial adenomatous polyposis 1	Likely pathogenic (Feb 17, 2017)	criteria provided, single submitter
Select item 104977825.	NM_000038.6(APC):c.-2_135+1824del GRCh37: Chr5:112090586-112092546 GRCh38: Chr5:112754889-112756849	APC		Carcinoma of colon, Malignant tumor of breast	Pathogenic	no assertion criteria provided
Select item 104932426.	NM_000038.6(APC):c.-2_135+1274del GRCh37: Chr5:112090586-112091996 GRCh38: Chr5:112754889-112756299	APC		Familial adenomatous polyposis 1	Pathogenic	no assertion criteria provided
Select item 104907627.	NM_000038.6(APC):c.-2_136-2903del GRCh37: Chr5:112090586-112099120 GRCh38: Chr5:112754889-112763423	APC		Desmoid tumor, Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 17790628.	NM_000038.4(APC):c.(?_1)_(8477_?)del GRCh37: Chr5:112090588-112179768 GRCh38: Chr5:112754891-112844071	APC		Familial multiple polyposis syndrome	Pathogenic (Feb 5, 2010)	criteria provided, single submitter
Select item 63096929.	NM_000038.6(APC):c.26_27insTTTA (p.Leu9fs) GRCh37: Chr5:112090613-112090614 GRCh38: Chr5:112754916-112754917	APC	L9fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 14, 2020)	criteria provided, single submitter
Select item 210298630.	NM_000038.6(APC):c.31A>T (p.Lys11Ter) GRCh37: Chr5:112090618 GRCh38: Chr5:112754921	APC	K11*	Familial adenomatous polyposis 1	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 97028231.	NM_000038.6(APC):c.55G>T (p.Glu19Ter) GRCh37: Chr5:112090642 GRCh38: Chr5:112754945	APC	E19*	Familial adenomatous polyposis 1	Pathogenic (Nov 1, 2019)	criteria provided, single submitter
Select item 137715132.	NM_000038.6(APC):c.62C>G (p.Ser21Ter) GRCh37: Chr5:112090649 GRCh38: Chr5:112754952	APC	S21*	Familial adenomatous polyposis 1	Pathogenic (Nov 5, 2021)	criteria provided, single submitter
Select item 18470233.	NM_000038.6(APC):c.70C>T (p.Arg24Ter) GRCh37: Chr5:112090657 GRCh38: Chr5:112754960	APC	R24*	not specified, not provided, Familial adenomatous polyposis 1, Familial adenomatous polyposis 1, Neoplasm of stomach, Hepatocellular carcinoma, Carcinoma of colon, Desmoid disease, hereditary, Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome	Pathogenic/Likely pathogenic (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47009034.	NM_000038.6(APC):c.74_75del (p.Gln25fs) GRCh37: Chr5:112090661-112090662 GRCh38: Chr5:112754964-112754965	APC	Q25fs	Hereditary cancer-predisposing syndrome, Desmoid disease, hereditary, Colorectal cancer, Gastric adenocarcinoma and proximal polyposis of the stomach, Gastric cancer, Familial adenomatous polyposis 1, Hepatocellular carcinoma, not provided, Familial adenomatous polyposis 1	Pathogenic (Jun 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42811335.	NM_000038.6(APC):c.93del (p.Asn32fs) GRCh37: Chr5:112090679 GRCh38: Chr5:112754982	APC	N32fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 1, 2014)	criteria provided, single submitter
Select item 42815436.	NM_000038.6(APC):c.104del (p.Thr35fs) GRCh37: Chr5:112090691 GRCh38: Chr5:112754994	APC	T35fs	Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Mar 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 53750237.	NM_000038.6(APC):c.108del (p.Lys36fs) GRCh37: Chr5:112090692 GRCh38: Chr5:112754995	APC	K36fs	Familial adenomatous polyposis 1	Pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 57975638.	NM_000038.6(APC):c.132dup (p.Lys45fs) GRCh37: Chr5:112090718-112090719 GRCh38: Chr5:112755021-112755022	APC	K45fs	Familial adenomatous polyposis 1	Pathogenic (Feb 7, 2018)	criteria provided, single submitter
Select item 177058039.	NM_000038.6(APC):c.135+1G>C GRCh37: Chr5:112090723 GRCh38: Chr5:112755026	APC		Hereditary cancer-predisposing syndrome	Likely pathogenic (Nov 13, 2020)	criteria provided, single submitter
Select item 48247640.	NM_000038.6(APC):c.135+1G>T GRCh37: Chr5:112090723 GRCh38: Chr5:112755026	APC		Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided	Likely pathogenic (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49019441.	NM_000038.6(APC):c.135+2T>C GRCh37: Chr5:112090724 GRCh38: Chr5:112755027	APC		Hereditary cancer-predisposing syndrome	Likely pathogenic (Aug 22, 2019)	criteria provided, single submitter
Select item 207603242.	NC_000005.9:g.112102004_112102005insTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTT GRCh37: Chr5:112102004-112102005 GRCh38: Chr5:112766307-112766308	APC		Familial adenomatous polyposis 1	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 64696843.	NC_000005.10:g.(?_112766316)_(112844136_?)del GRCh37: Chr5:112102013-112179833 GRCh38: Chr5:112766316-112844136	APC		Familial adenomatous polyposis 1	Pathogenic (Apr 4, 2022)	criteria provided, single submitter
Select item 201744644.	NM_000038.6(APC):c.136-2A>T GRCh37: Chr5:112102021 GRCh38: Chr5:112766324	APC		Familial adenomatous polyposis 1	Likely pathogenic (Jul 15, 2022)	criteria provided, single submitter
Select item 26556145.	NM_000038.6(APC):c.136-2A>G GRCh37: Chr5:112102021 GRCh38: Chr5:112766324	APC		not provided, Familial adenomatous polyposis 1	Pathogenic/Likely pathogenic (Apr 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 48224446.	NM_000038.6(APC):c.136-1G>A GRCh37: Chr5:112102022 GRCh38: Chr5:112766325	APC		Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome	Likely pathogenic (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81927447.	NM_000038.6(APC):c.145A>T (p.Lys49Ter) GRCh37: Chr5:112102032 GRCh38: Chr5:112766335	APC	K49, K24, K59*	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 14136848.	NM_000038.6(APC):c.147_150del (p.Lys49fs) GRCh37: Chr5:112102032-112102035 GRCh38: Chr5:112766335-112766338	APC	K59fs, K49fs, K24fs	Hereditary cancer-predisposing syndrome, not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1	Pathogenic (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143922849.	NM_000038.6(APC):c.148_149del (p.Gln50fs) GRCh37: Chr5:112102034-112102035 GRCh38: Chr5:112766337-112766338	APC	Q50fs, Q25fs, Q60fs	Familial adenomatous polyposis 1	Pathogenic (May 4, 2021)	criteria provided, single submitter
Select item 177355450.	NM_000038.6(APC):c.148_149insTT (p.Gln50fs) GRCh37: Chr5:112102035-112102036 GRCh38: Chr5:112766338-112766339	APC	Q25fs, Q50fs, Q60fs	Hereditary cancer-predisposing syndrome	Pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 107422151.	NM_000038.6(APC):c.148C>T (p.Gln50Ter) GRCh37: Chr5:112102035 GRCh38: Chr5:112766338	APC	Q25, Q50, Q60*	Familial adenomatous polyposis 1	Pathogenic (Sep 24, 2020)	criteria provided, single submitter
Select item 49021352.	NM_000038.6(APC):c.154C>T (p.Gln52Ter) GRCh37: Chr5:112102041 GRCh38: Chr5:112766344	APC	Q52, Q62, Q27*	Hereditary cancer-predisposing syndrome	Pathogenic (Mar 2, 2020)	criteria provided, single submitter
Select item 65486453.	NM_000038.6(APC):c.156del (p.Gly53fs) GRCh37: Chr5:112102042 GRCh38: Chr5:112766345	APC	G28fs, G53fs, G63fs	Familial adenomatous polyposis 1	Pathogenic (Aug 28, 2018)	criteria provided, single submitter
Select item 48677254.	NM_000038.6(APC):c.163_164insG (p.Ile55fs) GRCh37: Chr5:112102050-112102051 GRCh38: Chr5:112766353-112766354	APC	I65fs, I30fs, I55fs	Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome	Pathogenic (Sep 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 104981155.	NM_000038.6(APC):c.194del (p.Gln65fs) GRCh37: Chr5:112102081 GRCh38: Chr5:112766384	APC	Q40fs, Q65fs, Q6fs, Q75fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 145175556.	NM_000038.6(APC):c.196del (p.Ile66fs) GRCh37: Chr5:112102083 GRCh38: Chr5:112766386	APC	I66fs, I7fs, I41fs, I76fs	Familial adenomatous polyposis 1	Pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 93472457.	NM_000038.6(APC):c.203del (p.Leu68fs) GRCh37: Chr5:112102088 GRCh38: Chr5:112766391	APC	L9fs, L43fs, L68fs, L78fs	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Pathogenic (Sep 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 169751258.	NM_000038.6(APC):c.203T>A (p.Leu68Ter) GRCh37: Chr5:112102090 GRCh38: Chr5:112766393	APC	L43, L68, L78, L9	not provided	Pathogenic (Jan 28, 2022)	no assertion criteria provided
Select item 43359759.	NM_000038.6(APC):c.203T>G (p.Leu68Ter) GRCh37: Chr5:112102090 GRCh38: Chr5:112766393	APC	L68, L78, L43, L9	Familial adenomatous polyposis 1	Pathogenic (Aug 3, 2022)	criteria provided, single submitter
Select item 143697160.	NM_000038.6(APC):c.206T>A (p.Leu69Ter) GRCh37: Chr5:112102093 GRCh38: Chr5:112766396	APC	L69, L79, L10, L44	Familial adenomatous polyposis 1	Pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 21794361.	NM_000038.6(APC):c.207del (p.Glu70fs) GRCh37: Chr5:112102094 GRCh38: Chr5:112766397	APC	E11fs, E80fs, E45fs, E70fs	not provided	Likely pathogenic	no assertion criteria provided
Select item 97110162.	NM_000038.6(APC):c.219del (p.Glu74fs) GRCh37: Chr5:112102104 GRCh38: Chr5:112766407	APC	E84fs, E74fs, E15fs, E49fs	not provided, Familial adenomatous polyposis 1	Pathogenic (Jan 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 243127063.	NM_000038.6(APC):c.220+1del GRCh37: Chr5:112102107 GRCh38: Chr5:112766410	APC		Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach	Likely pathogenic (Jan 9, 2023)	criteria provided, single submitter
Select item 23107464.	NM_000038.6(APC):c.220G>T (p.Glu74Ter) GRCh37: Chr5:112102107 GRCh38: Chr5:112766410	APC	E74, E84, E49, E15	Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Jul 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212785165.	NM_000038.6(APC):c.220+1G>T GRCh37: Chr5:112102108 GRCh38: Chr5:112766411	APC		Familial adenomatous polyposis 1	Pathogenic (Apr 18, 2022)	criteria provided, single submitter
Select item 43359866.	NM_000038.6(APC):c.220+1G>A GRCh37: Chr5:112102108 GRCh38: Chr5:112766411	APC		Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome	Pathogenic (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14151567.	NM_000038.6(APC):c.220+2T>A GRCh37: Chr5:112102109 GRCh38: Chr5:112766412	APC		Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1	Pathogenic/Likely pathogenic (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104933568.	NM_000038.6(APC):c.220+3A>G GRCh37: Chr5:112102110 GRCh38: Chr5:112766413	APC		Hereditary cancer-predisposing syndrome	Likely pathogenic (Nov 4, 2021)	criteria provided, single submitter
Select item 152054769.	NM_000038.6(APC):c.221-2A>T GRCh37: Chr5:112102884 GRCh38: Chr5:112767187	APC		Familial adenomatous polyposis 1	Pathogenic (Oct 28, 2022)	criteria provided, single submitter
Select item 18411770.	NM_000038.6(APC):c.221-2A>G GRCh37: Chr5:112102884 GRCh38: Chr5:112767187	APC		Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1, not provided	Pathogenic (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23015471.	NM_000038.6(APC):c.221-1G>C GRCh37: Chr5:112102885 GRCh38: Chr5:112767188	APC		Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21794772.	NM_000038.6(APC):c.221-1G>A GRCh37: Chr5:112102885 GRCh38: Chr5:112767188	APC		Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Pathogenic/Likely pathogenic (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105061573.	NM_000038.6(APC):c.230T>A (p.Leu77Ter) GRCh37: Chr5:112102895 GRCh38: Chr5:112767198	APC	L18, L52, L77, L87	Hereditary cancer-predisposing syndrome	Pathogenic (Nov 20, 2017)	criteria provided, single submitter
Select item 41800574.	NM_000038.6(APC):c.233_236del (p.Asp78fs) GRCh37: Chr5:112102895-112102898 GRCh38: Chr5:112767198-112767201	APC	D53fs, D19fs, D78fs, D88fs	Hereditary cancer-predisposing syndrome, not provided, Familial multiple polyposis syndrome, Familial adenomatous polyposis 1	Pathogenic (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178971475.	NM_000038.6(APC):c.233_264dup (p.Ser89delinsIleAlaValIleSerLeuGluTer) GRCh37: Chr5:112102896-112102897 GRCh38: Chr5:112767199-112767200	APC		Hereditary cancer-predisposing syndrome	Pathogenic (Oct 22, 2020)	criteria provided, single submitter
Select item 209203276.	NM_000038.6(APC):c.244_250del (p.Phe82fs) GRCh37: Chr5:112102909-112102915 GRCh38: Chr5:112767212-112767218	APC	F82fs, F23fs, F57fs, F92fs	Familial adenomatous polyposis 1	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 23657577.	NM_000038.6(APC):c.249del (p.Gly84fs) GRCh37: Chr5:112102914 GRCh38: Chr5:112767217	APC	G94fs, G25fs, G59fs, G84fs	Familial adenomatous polyposis 1, not provided	Pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145868878.	NM_000038.6(APC):c.254del (p.Val85fs) GRCh37: Chr5:112102919 GRCh38: Chr5:112767222	APC	V95fs, V26fs, V85fs, V60fs	Familial adenomatous polyposis 1	Pathogenic (Apr 5, 2021)	criteria provided, single submitter
Select item 42809579.	NM_000038.6(APC):c.258dup (p.Leu87fs) GRCh37: Chr5:112102919-112102920 GRCh38: Chr5:112767222-112767223	APC	L97fs, L62fs, L87fs, L28fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 7, 2018)	criteria provided, single submitter
Select item 145667580.	NM_000038.6(APC):c.280_281insTGGAGGAAATTGGACACCATCATTCTCAGTAAACTATCGCACGAACAAAAAACCAAACACCGCATCGTCTCAGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGTCCCTCC (p.Arg94delinsLeuGluGluIleGlyHisHisHisSerGlnTer) GRCh37: Chr5:112102931-112102932 GRCh38: Chr5:112767234-112767235	APC		Familial adenomatous polyposis 1	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 56651681.	NM_000038.6(APC):c.266C>A (p.Ser89Ter) GRCh37: Chr5:112102931 GRCh38: Chr5:112767234	APC	S99, S89, S64, S30	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23092782.	NM_000038.6(APC):c.266C>G (p.Ser89Ter) GRCh37: Chr5:112102931 GRCh38: Chr5:112767234	APC	S89, S99, S64, S30	Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome	Pathogenic (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 54572683.	NM_000038.6(APC):c.271del (p.Met91fs) GRCh37: Chr5:112102932 GRCh38: Chr5:112767235	APC	M32fs, M91fs, M66fs, M101fs	not provided	Pathogenic (Dec 23, 2014)	criteria provided, single submitter
Select item 82179884.	NM_000038.6(APC):c.277del (p.Leu93fs) GRCh37: Chr5:112102940 GRCh38: Chr5:112767243	APC	L68fs, L103fs, L34fs, L93fs	Hereditary cancer-predisposing syndrome	Pathogenic (May 21, 2018)	criteria provided, single submitter
Select item 61778285.	NM_000038.6(APC):c.281_282del (p.Arg94fs) GRCh37: Chr5:112102946-112102947 GRCh38: Chr5:112767249-112767250	APC	R94fs, R104fs, R35fs, R69fs	Familial adenomatous polyposis 1	Likely pathogenic (Oct 24, 2018)	criteria provided, single submitter
Select item 179715686.	NM_000038.6(APC):c.287dup (p.Tyr96Ter) GRCh37: Chr5:112102951-112102952 GRCh38: Chr5:112767254-112767255	APC	Y71, Y106, Y96, Y37	Hereditary cancer-predisposing syndrome	Pathogenic (Jul 10, 2020)	criteria provided, single submitter
Select item 21795787.	NM_000038.6(APC):c.288T>G (p.Tyr96Ter) GRCh37: Chr5:112102953 GRCh38: Chr5:112767256	APC	Y106, Y96, Y37, Y71	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18183188.	NM_000038.6(APC):c.288T>A (p.Tyr96Ter) GRCh37: Chr5:112102953 GRCh38: Chr5:112767256	APC	Y106, Y96, Y71, Y37	Hereditary cancer-predisposing syndrome, not provided, Familial adenomatous polyposis 1	Pathogenic (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169751489.	NM_000038.6(APC):c.289G>A (p.Gly97Arg) GRCh37: Chr5:112102954 GRCh38: Chr5:112767257	APC	G107R, G38R, G72R, G97R	not provided	Pathogenic (Feb 3, 2022)	no assertion criteria provided
Select item 179805290.	NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs) GRCh37: Chr5:112102958-112102959 GRCh38: Chr5:112767261-112767262	APC	R40fs, R99fs, R109fs, R74fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 29, 2021)	criteria provided, single submitter
Select item 41999191.	NM_000038.6(APC):c.298del (p.Glu100fs) GRCh37: Chr5:112102961 GRCh38: Chr5:112767264	APC	E100fs, E75fs, E110fs, E41fs	not provided, Familial adenomatous polyposis 1	Pathogenic/Likely pathogenic (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21795892.	NM_000038.6(APC):c.301G>T (p.Gly101Ter) GRCh37: Chr5:112102966 GRCh38: Chr5:112767269	APC	G101, G111, G76, G42	Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome	Pathogenic (Nov 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 172736493.	NM_000038.6(APC):c.308_309insCT (p.Ser104fs) GRCh37: Chr5:112102972-112102973 GRCh38: Chr5:112767275-112767276	APC	S45fs, S104fs, S79fs, S114fs	Hereditary cancer-predisposing syndrome	Pathogenic (Dec 18, 2019)	criteria provided, single submitter
Select item 23151394.	NM_000038.6(APC):c.311C>G (p.Ser104Ter) GRCh37: Chr5:112102976 GRCh38: Chr5:112767279	APC	S104, S114, S79, S45	Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome, not provided, not specified	Pathogenic/Likely pathogenic (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172816895.	NM_000038.6(APC):c.314del (p.Ser105fs) GRCh37: Chr5:112102979 GRCh38: Chr5:112767282	APC	S115fs, S105fs, S80fs, S46fs	Hereditary cancer-predisposing syndrome	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 141414596.	NM_000038.6(APC):c.322G>T (p.Gly108Ter) GRCh37: Chr5:112102987 GRCh38: Chr5:112767290	APC	G108, G118, G83, G49	Familial adenomatous polyposis 1	Pathogenic (Mar 29, 2021)	criteria provided, single submitter
Select item 43359997.	NM_000038.6(APC):c.325G>T (p.Glu109Ter) GRCh37: Chr5:112102990 GRCh38: Chr5:112767293	APC	E109, E119, E84, E50	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 173029298.	NM_000038.6(APC):c.332del (p.Ser111fs) GRCh37: Chr5:112102997 GRCh38: Chr5:112767300	APC	S121fs, S86fs, S111fs, S52fs	Hereditary cancer-predisposing syndrome	Pathogenic (Sep 25, 2020)	criteria provided, single submitter
Select item 41800699.	NM_000038.6(APC):c.341del (p.Pro114fs) GRCh37: Chr5:112103005 GRCh38: Chr5:112767308	APC	P114fs, P124fs, P55fs, P89fs	Hereditary cancer-predisposing syndrome, not provided	Pathogenic (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 433600100.	NM_000038.6(APC):c.346_359del (p.Gly116fs) GRCh37: Chr5:112103010-112103023 GRCh38: Chr5:112767313-112767326	APC	G57fs, G116fs, G126fs, G91fs	Carcinoma of colon	Pathogenic	no assertion criteria provided

<< First< Prev

Page of 17