ClinVar for MedGen (Select 398651) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25733261.	NM_000038.6(APC):c.1567A>T (p.Lys523Ter) GRCh37: Chr5:112163644 GRCh38: Chr5:112827947	APC	K139, K240, K363, K394, K397, K422, K432, K440, K464, K482, K495, K498, K505, K513, K516, K523, K533, K541, K551*	Familial adenomatous polyposis 1	Pathogenic (Feb 13, 2023)	criteria provided, single submitter
Select item 25733172.	NM_000038.6(APC):c.2943_2945delinsTT (p.Pro981_Ser982insTer) GRCh37: Chr5:112174234-112174236 GRCh38: Chr5:112838537-112838539	APC		Familial adenomatous polyposis 1	Pathogenic (Mar 7, 2023)	criteria provided, single submitter
Select item 25732923.	NM_000038.6(APC):c.5497dup (p.Arg1833fs) GRCh37: Chr5:112176787-112176788 GRCh38: Chr5:112841090-112841091	APC	R1449fs, R1550fs, R1673fs, R1704fs, R1707fs, R1732fs, R1742fs, R1750fs, R1774fs, R1792fs, R1805fs, R1808fs, R1815fs, R1823fs, R1826fs, R1833fs, R1843fs, R1851fs, R1861fs	Familial adenomatous polyposis 1	Pathogenic (Feb 22, 2023)	criteria provided, single submitter
Select item 25732904.	NM_000038.6(APC):c.1869del (p.Ser624fs) GRCh37: Chr5:112170772 GRCh38: Chr5:112835075	APC	S240fs, S341fs, S464fs, S495fs, S498fs, S523fs, S533fs, S541fs, S565fs, S583fs, S596fs, S599fs, S606fs, S614fs, S617fs, S624fs, S634fs, S642fs, S652fs	Familial adenomatous polyposis 1	Pathogenic (Feb 8, 2023)	criteria provided, single submitter
Select item 25732725.	NM_000038.6(APC):c.130dup (p.Met44fs) GRCh37: Chr5:112090716-112090717 GRCh38: Chr5:112755019-112755020	APC	M44fs	Familial adenomatous polyposis 1	Pathogenic (Apr 13, 2023)	criteria provided, single submitter
Select item 25732506.	NM_000038.6(APC):c.2486del (p.Thr829fs) GRCh37: Chr5:112173777 GRCh38: Chr5:112838080	APC	T445fs, T546fs, T669fs, T700fs, T703fs, T728fs, T738fs, T746fs, T770fs, T788fs, T801fs, T804fs, T811fs, T819fs, T822fs, T829fs, T839fs, T847fs, T857fs	Familial adenomatous polyposis 1	Pathogenic (Feb 14, 2023)	criteria provided, single submitter
Select item 25731047.	NM_000038.6(APC):c.5493dup (p.Asp1832fs) GRCh37: Chr5:112176782-112176783 GRCh38: Chr5:112841085-112841086	APC	D1448fs, D1549fs, D1672fs, D1703fs, D1706fs, D1731fs, D1741fs, D1749fs, D1773fs, D1791fs, D1804fs, D1807fs, D1814fs, D1822fs, D1825fs, D1832fs, D1842fs, D1850fs, D1860fs	Familial adenomatous polyposis 1	Likely pathogenic (Mar 31, 2023)	criteria provided, single submitter
Select item 25023668.	NM_000038.6(APC):c.4222G>T (p.Glu1408Ter) GRCh37: Chr5:112175513 GRCh38: Chr5:112839816	APC	E1024, E1125, E1248, E1279, E1282, E1307, E1317, E1325, E1349, E1367, E1380, E1383, E1390, E1398, E1401, E1408, E1418, E1426, E1436*	Familial adenomatous polyposis 1	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 25023659.	NM_000038.6(APC):c.2396_2397del (p.Tyr799fs) GRCh37: Chr5:112173686-112173687 GRCh38: Chr5:112837989-112837990	APC	Y415fs, Y516fs, Y639fs, Y670fs, Y673fs, Y698fs, Y708fs, Y716fs, Y740fs, Y758fs, Y771fs, Y774fs, Y781fs, Y789fs, Y792fs, Y799fs, Y809fs, Y817fs, Y827fs	Familial adenomatous polyposis 1	Likely pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 250032710.	NM_000038.6(APC):c.3559dup (p.Ile1187fs) GRCh37: Chr5:112174849-112174850 GRCh38: Chr5:112839152-112839153	APC	I1027fs, I1058fs, I1061fs, I1086fs, I1096fs, I1104fs, I1128fs, I1146fs, I1159fs, I1162fs, I1169fs, I1177fs, I1180fs, I1187fs, I1197fs, I1205fs, I1215fs, I803fs, I904fs	Familial adenomatous polyposis 1	Pathogenic (Feb 20, 2023)	criteria provided, single submitter
Select item 244231611.	Single allele			Familial adenomatous polyposis 1	Likely pathogenic (Feb 26, 2023)	reviewed by expert panel FDA Recognized Database
Select item 244231512.	Single allele			Familial adenomatous polyposis 1	Pathogenic (Feb 26, 2023)	reviewed by expert panel FDA Recognized Database
Select item 244231413.	NM_000038.6(APC):c.1900dup (p.Ser634fs) GRCh37: Chr5:112170801-112170802 GRCh38: Chr5:112835104-112835105	APC	S351fs, S474fs, S508fs, S533fs, S543fs, S575fs, S593fs, S606fs, S609fs, S616fs, S634fs, S644fs, S652fs	Familial adenomatous polyposis 1	Pathogenic (Feb 19, 2023)	reviewed by expert panel FDA Recognized Database
Select item 243133714.	NM_000038.6(APC):c.6227dup (p.Thr2077fs) GRCh37: Chr5:112177517-112177518 GRCh38: Chr5:112841820-112841821	APC	T1794fs, T1917fs, T1951fs, T1976fs, T1986fs, T2018fs, T2036fs, T2049fs, T2052fs, T2059fs, T2077fs, T2087fs, T2095fs	Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach	Pathogenic (Jan 13, 2023)	criteria provided, single submitter
Select item 243127015.	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 243125216.	NM_000038.6(APC):c.898dup (p.Ala300fs) GRCh37: Chr5:112151254-112151255 GRCh38: Chr5:112815557-112815558	APC	A17fs, A241fs, A272fs, A275fs, A282fs, A300fs, A310fs	Familial adenomatous polyposis 1, Gastric adenocarcinoma and proximal polyposis of the stomach	Pathogenic (Jan 13, 2023)	criteria provided, single submitter
Select item 242819617.	NM_000038.6(APC):c.1089T>A (p.Asn363Lys) GRCh37: Chr5:112154818 GRCh38: Chr5:112819121	APC	N304K, N335K, N338K, N345K, N363K, N373K, N80K	Familial adenomatous polyposis 1	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 242218518.	NC_000005.9:g.(?_112043009)_(112179823_?)dup GRCh37: Chr5:112043009-112179823	APC		Familial adenomatous polyposis 1	Uncertain significance (Aug 6, 2021)	criteria provided, single submitter
Select item 242218419.	NC_000005.9:g.(?_112090588)_(112137090_?)dup GRCh37: Chr5:112090588-112137090	APC		Familial adenomatous polyposis 1	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 242218320.	NC_000005.9:g.(?_112043009)_(112151300_?)del GRCh37: Chr5:112043009-112151300	APC		Familial adenomatous polyposis 1	Pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 242218221.	NC_000005.9:g.(?_112115546)_(112179823_?)del GRCh37: Chr5:112115546-112179823	APC		Familial adenomatous polyposis 1	Pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 242218122.	NC_000005.9:g.(?_112154653)_(112179823_?)del GRCh37: Chr5:112154653-112179823	APC		Familial adenomatous polyposis 1	Pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 242218023.	NC_000005.9:g.(?_112173240)_(112179823_?)del GRCh37: Chr5:112173240-112179823	APC		Familial adenomatous polyposis 1	Pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 242217924.	NC_000005.9:g.(?_112111314)_(112116610_?)dup GRCh37: Chr5:112111314-112116610	APC		Familial adenomatous polyposis 1	Likely pathogenic (Aug 18, 2022)	criteria provided, single submitter
Select item 242217825.	NC_000005.9:g.(?_112111316)_(112170882_?)dup GRCh37: Chr5:112111316-112170882	APC		Familial adenomatous polyposis 1	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 242217726.	NC_000005.9:g.(?_112151175)_(112151300_?)dup GRCh37: Chr5:112151175-112151300	APC		Familial adenomatous polyposis 1	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 242217627.	NC_000005.9:g.(?_112173240)_(112179823_?)dup GRCh37: Chr5:112173240-112179823	APC		Familial adenomatous polyposis 1	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 242217528.	NC_000005.9:g.(?_112043009)_(112111444_?)del GRCh37: Chr5:112043009-112111444	APC		Familial adenomatous polyposis 1	Pathogenic (May 4, 2021)	criteria provided, single submitter
Select item 242217329.	NC_000005.9:g.(?_112128133)_(112179823_?)del GRCh37: Chr5:112128133-112179823	APC		Familial adenomatous polyposis 1	Pathogenic (Aug 16, 2022)	criteria provided, single submitter
Select item 242217230.	NC_000005.9:g.(?_112170638)_(112179823_?)del GRCh37: Chr5:112170638-112179823	APC		Familial adenomatous polyposis 1	Pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 242217131.	NC_000005.9:g.(?_112162795)_(112164679_?)del GRCh37: Chr5:112162795-112164679	APC		Familial adenomatous polyposis 1	Pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 242217032.	NC_000005.9:g.(?_112043009)_(112090742_?)del GRCh37: Chr5:112043009-112090742	APC		Familial adenomatous polyposis 1	Pathogenic (May 15, 2022)	criteria provided, single submitter
Select item 242216933.	NC_000005.9:g.(?_112072721)_(112164689_?)del GRCh37: Chr5:112072721-112164689	APC		Familial adenomatous polyposis 1	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 242216834.	NC_000005.9:g.(?_112136966)_(112137090_?)del GRCh37: Chr5:112136966-112137090	APC		Familial adenomatous polyposis 1	Uncertain significance (Jul 30, 2021)	criteria provided, single submitter
Select item 242216735.	NC_000005.9:g.(?_112102013)_(112102117_?)del GRCh37: Chr5:112102013-112102117	APC		Familial adenomatous polyposis 1	Pathogenic (Dec 30, 2021)	criteria provided, single submitter
Select item 242199736.	NM_000038.6(APC):c.2804A>T (p.Tyr935Phe) GRCh37: Chr5:112174095 GRCh38: Chr5:112838398	APC	Y551F, Y652F, Y775F, Y806F, Y809F, Y834F, Y844F, Y852F, Y876F, Y894F, Y907F, Y910F, Y917F, Y925F, Y928F, Y935F, Y945F, Y953F, Y963F	Familial adenomatous polyposis 1	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 241893437.	NM_000038.6(APC):c.4007G>C (p.Arg1336Thr) GRCh37: Chr5:112175298 GRCh38: Chr5:112839601	APC	R1053T, R1176T, R1207T, R1210T, R1235T, R1245T, R1253T, R1277T, R1295T, R1308T, R1311T, R1318T, R1326T, R1329T, R1336T, R1346T, R1354T, R1364T, R952T	Familial adenomatous polyposis 1	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 241821638.	NM_000038.6(APC):c.220+19T>A GRCh37: Chr5:112102126 GRCh38: Chr5:112766429	APC		Familial adenomatous polyposis 1	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 241759539.	NM_000038.6(APC):c.1408+14del GRCh37: Chr5:112157702 GRCh38: Chr5:112822005	APC		not specified, Familial adenomatous polyposis 1	Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 241740440.	NM_001127511.3(APC):c.-219C>A GRCh37: Chr5:112043196 GRCh38: Chr5:112707499	APC		Familial adenomatous polyposis 1	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 241602041.	NM_000038.6(APC):c.2892A>G (p.Leu964=) GRCh37: Chr5:112174183 GRCh38: Chr5:112838486	APC		Familial adenomatous polyposis 1	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 241387642.	NM_000038.6(APC):c.1131A>G (p.Lys377=) GRCh37: Chr5:112154860 GRCh38: Chr5:112819163	APC		Familial adenomatous polyposis 1	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 220368943.	NM_000038.6(APC):c.3463G>T (p.Glu1155Ter) GRCh37: Chr5:112174754 GRCh38: Chr5:112839057	APC	E1127, E995, E1072, E1148, E1155, E1029, E1064, E1096, E1114, E1137, E1145, E1026, E1054, E1130, E1165, E771, E872, E1173, E1183*	Familial adenomatous polyposis 1	Pathogenic (Jul 28, 2022)	criteria provided, single submitter
Select item 220368844.	NM_000038.6(APC):c.3317dup (p.Ala1107fs) GRCh37: Chr5:112174604-112174605 GRCh38: Chr5:112838907-112838908	APC	A1006fs, A1016fs, A1048fs, A1082fs, A1117fs, A981fs, A1066fs, A1107fs, A824fs, A1079fs, A1089fs, A1125fs, A947fs	Familial adenomatous polyposis 1	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 220368745.	NM_000038.6(APC):c.2523dup (p.Asp842fs) GRCh37: Chr5:112173813-112173814 GRCh38: Chr5:112838116-112838117	APC	D559fs, D716fs, D817fs, D741fs, D842fs, D852fs, D682fs, D751fs, D860fs, D783fs, D801fs, D814fs, D824fs	Familial adenomatous polyposis 1	Pathogenic (Apr 7, 2022)	criteria provided, single submitter
Select item 220368646.	NM_000038.6(APC):c.2522T>G (p.Leu841Ter) GRCh37: Chr5:112173813 GRCh38: Chr5:112838116	APC	L457, L715, L740, L800, L816, L823, L681, L869, L712, L750, L758, L782, L831, L859, L558, L813, L834, L841, L851*	Familial adenomatous polyposis 1	Pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 220368547.	NM_000038.6(APC):c.2432C>G (p.Ser811Ter) GRCh37: Chr5:112173723 GRCh38: Chr5:112838026	APC	S728, S752, S786, S793, S804, S682, S685, S770, S528, S651, S720, S821, S829, S783, S801, S811, S839, S427, S710*	Familial adenomatous polyposis 1	Pathogenic (Jun 7, 2022)	criteria provided, single submitter
Select item 220368448.	NM_000038.6(APC):c.2050_2051del (p.Leu684fs) GRCh37: Chr5:112173340-112173341 GRCh38: Chr5:112837643-112837644	APC	L524fs, L666fs, L694fs, L558fs, L625fs, L702fs, L583fs, L593fs, L684fs, L401fs, L643fs, L656fs, L659fs	Familial adenomatous polyposis 1	Pathogenic (Jul 7, 2022)	criteria provided, single submitter
Select item 220368149.	NM_000038.6(APC):c.1370del (p.Ser457fs) GRCh37: Chr5:112157650 GRCh38: Chr5:112821953	APC	S174fs, S297fs, S398fs, S331fs, S432fs, S457fs, S356fs, S366fs, S429fs, S439fs, S467fs	Familial adenomatous polyposis 1	Pathogenic (Oct 16, 2022)	criteria provided, single submitter
Select item 220367950.	NM_000038.6(APC):c.1180_1181del (p.Gln394fs) GRCh37: Chr5:112154907-112154908 GRCh38: Chr5:112819210-112819211	APC	Q335fs, Q404fs, Q366fs, Q369fs, Q376fs, Q111fs, Q394fs	Familial adenomatous polyposis 1	Pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 220367651.	NM_000038.6(APC):c.832C>A (p.Gln278Lys) GRCh37: Chr5:112137078 GRCh38: Chr5:112801381	APC	Q253K, Q278K, Q260K, Q288K, Q219K, Q250K	Familial adenomatous polyposis 1	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 220367552.	NM_000038.6(APC):c.824del (p.Gly275fs) GRCh37: Chr5:112137069 GRCh38: Chr5:112801372	APC	G257fs, G285fs, G216fs, G275fs, G247fs, G250fs	Familial adenomatous polyposis 1	Pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 220367453.	NM_000038.6(APC):c.646-2A>C GRCh37: Chr5:112128141 GRCh38: Chr5:112792444	APC		Familial adenomatous polyposis 1, Familial adenomatous polyposis 1	Pathogenic/Likely pathogenic (Jul 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220367254.	NM_000038.6(APC):c.423-1G>T GRCh37: Chr5:112111325 GRCh38: Chr5:112775628	APC		Familial adenomatous polyposis 1	Pathogenic (Jun 15, 2022)	criteria provided, single submitter
Select item 220367155.	NM_000038.6(APC):c.422+1G>A GRCh37: Chr5:112103088 GRCh38: Chr5:112767391	APC		Familial adenomatous polyposis 1	Likely pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 220367056.	NM_000038.6(APC):c.399T>G (p.Tyr133Ter) GRCh37: Chr5:112103064 GRCh38: Chr5:112767367	APC	Y108, Y133, Y143, Y74	Familial adenomatous polyposis 1	Pathogenic (Jul 16, 2022)	criteria provided, single submitter
Select item 220228457.	NM_000038.6(APC):c.4702G>A (p.Asp1568Asn) GRCh37: Chr5:112175993 GRCh38: Chr5:112840296	APC	D1485N, D1442N, D1477N, D1509N, D1527N, D1543N, D1558N, D1184N, D1408N, D1540N, D1561N, D1285N, D1439N, D1467N, D1550N, D1568N, D1578N, D1586N, D1596N	Familial adenomatous polyposis 1	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 220173758.	NM_000038.6(APC):c.6560G>C (p.Gly2187Ala) GRCh37: Chr5:112177851 GRCh38: Chr5:112842154	APC	G2128A, G2197A, G2205A, G1904A, G2027A, G2086A, G2096A, G2159A, G2058A, G2061A, G2162A, G2215A, G1803A, G2104A, G2146A, G2169A, G2177A, G2180A, G2187A	Familial adenomatous polyposis 1	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 220004659.	NM_000038.6(APC):c.6296T>C (p.Phe2099Ser) GRCh37: Chr5:112177587 GRCh38: Chr5:112841890	APC	F1715S, F2016S, F2058S, F2071S, F2099S, F2117S, F2127S, F1816S, F1970S, F2008S, F2109S, F1939S, F1973S, F1998S, F2040S, F2081S, F2074S, F2089S, F2092S	Familial adenomatous polyposis 1	Uncertain significance (May 21, 2022)	criteria provided, single submitter
Select item 219995960.	NM_000038.6(APC):c.3160C>G (p.His1054Asp) GRCh37: Chr5:112174451 GRCh38: Chr5:112838754	APC	H1013D, H1044D, H1082D, H925D, H953D, H963D, H971D, H1029D, H1036D, H1064D, H1072D, H670D, H894D, H995D, H1026D, H1047D, H1054D, H771D, H928D	Familial adenomatous polyposis 1	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 219973261.	NM_000038.6(APC):c.2478G>A (p.Leu826=) GRCh37: Chr5:112173769 GRCh38: Chr5:112838072	APC		Familial adenomatous polyposis 1	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 219886662.	NM_001127511.3(APC):c.19T>G (p.Ser7Ala) GRCh37: Chr5:112043433 GRCh38: Chr5:112707736	APC	S7A	Familial adenomatous polyposis 1	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 219805763.	NM_000038.6(APC):c.4979_4982dup (p.Ile1662fs) GRCh37: Chr5:112176268-112176269 GRCh38: Chr5:112840571-112840572	APC	I1379fs, I1536fs, I1561fs, I1603fs, I1634fs, I1672fs, I1644fs, I1662fs, I1621fs, I1680fs, I1502fs, I1571fs, I1637fs	Familial adenomatous polyposis 1	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 219798864.	NM_001127511.3(APC):c.-124C>A GRCh37: Chr5:112043291 GRCh38: Chr5:112707594	APC		Familial adenomatous polyposis 1, not provided	Uncertain significance (Feb 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219788165.	NM_000038.6(APC):c.1313-10del GRCh37: Chr5:112157580 GRCh38: Chr5:112821883	APC		Familial adenomatous polyposis 1	Benign (Jun 16, 2022)	criteria provided, single submitter
Select item 219630166.	NM_000038.6(APC):c.7197A>G (p.Lys2399=) GRCh37: Chr5:112178488 GRCh38: Chr5:112842791	APC		Familial adenomatous polyposis 1	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 219555367.	NM_000038.6(APC):c.1958+23_1958+28del GRCh37: Chr5:112170882-112170887 GRCh38: Chr5:112835185-112835190	APC		Familial adenomatous polyposis 1	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 219436268.	NM_000038.6(APC):c.834+12A>G GRCh37: Chr5:112137092 GRCh38: Chr5:112801395	APC		Familial adenomatous polyposis 1	Likely benign (Jan 10, 2022)	criteria provided, single submitter
Select item 218981569.	NM_000038.6(APC):c.112G>A (p.Glu38Lys) GRCh37: Chr5:112090699 GRCh38: Chr5:112755002	APC	E38K	Familial adenomatous polyposis 1	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 218831670.	NM_000038.6(APC):c.7071G>C (p.Lys2357Asn) GRCh37: Chr5:112178362 GRCh38: Chr5:112842665	APC	K1973N, K2074N, K2332N, K2347N, K2350N, K2339N, K2375N, K2197N, K2228N, K2231N, K2266N, K2274N, K2316N, K2357N, K2367N, K2385N, K2256N, K2298N, K2329N	Familial adenomatous polyposis 1	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 218820071.	NM_000038.6(APC):c.6801C>T (p.Ala2267=) GRCh37: Chr5:112178092 GRCh38: Chr5:112842395	APC		Familial adenomatous polyposis 1	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 218753572.	NC_000005.9:g.112043194C>T GRCh37: Chr5:112043194 GRCh38: Chr5:112707497	APC		Familial adenomatous polyposis 1	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 218701373.	NM_001127511.3(APC):c.57C>G (p.Pro19=) GRCh37: Chr5:112043471 GRCh38: Chr5:112707774	APC		Familial adenomatous polyposis 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 218645174.	NM_000038.6(APC):c.6441A>G (p.Pro2147=) GRCh37: Chr5:112177732 GRCh38: Chr5:112842035	APC		Familial adenomatous polyposis 1, not specified	Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 218439375.	NM_000038.6(APC):c.3935G>A (p.Gly1312Glu) GRCh37: Chr5:112175226 GRCh38: Chr5:112839529	APC	G1029E, G1152E, G1186E, G1211E, G1287E, G1221E, G1229E, G1284E, G1305E, G1322E, G1340E, G928E, G1183E, G1302E, G1253E, G1271E, G1294E, G1312E, G1330E	Familial adenomatous polyposis 1	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 218413476.	NM_000038.6(APC):c.7920A>G (p.Ser2640=) GRCh37: Chr5:112179211 GRCh38: Chr5:112843514	APC		Familial adenomatous polyposis 1	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 218345177.	NM_000038.6(APC):c.1033A>G (p.Ile345Val) GRCh37: Chr5:112154762 GRCh38: Chr5:112819065	APC	I327V, I355V, I317V, I62V, I286V, I320V, I345V	Familial adenomatous polyposis 1	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 218332278.	NM_000038.6(APC):c.6596_6597delinsAC (p.Ile2199Asn) GRCh37: Chr5:112177887-112177888 GRCh38: Chr5:112842190-112842191	APC	I2108N, I2116N, I2192N, I2199N, I1815N, I1916N, I2181N, I2070N, I2174N, I2189N, I2039N, I2073N, I2098N, I2140N, I2158N, I2171N, I2209N, I2217N, I2227N	Familial adenomatous polyposis 1	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 218040879.	NM_000038.6(APC):c.1784del (p.Leu595fs) GRCh37: Chr5:112170686 GRCh38: Chr5:112834989	APC	L494fs, L536fs, L567fs, L613fs, L312fs, L435fs, L469fs, L570fs, L605fs, L504fs, L554fs, L577fs, L595fs	Familial adenomatous polyposis 1	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 218040580.	NM_000038.6(APC):c.4384_4387del (p.Lys1462fs) GRCh37: Chr5:112175674-112175677 GRCh38: Chr5:112839977-112839980	APC	K1361fs, K1403fs, K1421fs, K1480fs, K1302fs, K1434fs, K1179fs, K1336fs, K1371fs, K1437fs, K1444fs, K1462fs, K1472fs	Familial adenomatous polyposis 1	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 217985081.	NM_000038.6(APC):c.5347A>G (p.Thr1783Ala) GRCh37: Chr5:112176638 GRCh38: Chr5:112840941	APC	T1692A, T1758A, T1793A, T1399A, T1654A, T1783A, T1623A, T1657A, T1700A, T1811A, T1682A, T1724A, T1742A, T1755A, T1765A, T1773A, T1776A, T1801A, T1500A	Familial adenomatous polyposis 1	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 217922482.	NC_000005.9:g.112043189G>T GRCh37: Chr5:112043189 GRCh38: Chr5:112707492	APC		Familial adenomatous polyposis 1	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 217899083.	NM_000038.6(APC):c.7132C>T (p.Leu2378Phe) GRCh37: Chr5:112178423 GRCh38: Chr5:112842726	APC	L2249F, L2252F, L2287F, L2368F, L2371F, L2218F, L2295F, L2388F, L2095F, L2277F, L2319F, L2350F, L2396F, L1994F, L2337F, L2353F, L2360F, L2378F, L2406F	Familial adenomatous polyposis 1	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 217875184.	NM_000038.6(APC):c.65A>G (p.Asn22Ser) GRCh37: Chr5:112090652 GRCh38: Chr5:112754955	APC	N22S	Familial adenomatous polyposis 1	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 217873285.	NM_000038.6(APC):c.3663_3665del (p.Ser1223del) GRCh37: Chr5:112174953-112174955 GRCh38: Chr5:112839256-112839258	APC	S1140del, S1164del, S1182del, S1195del, S1198del, S1213del, S1223del, S940del, S1063del, S1132del, S1216del, S1233del, S1241del, S1094del, S1097del, S1122del, S1205del, S1251del, S839del	Familial adenomatous polyposis 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 217853286.	NM_000038.6(APC):c.2637G>T (p.Gln879His) GRCh37: Chr5:112173928 GRCh38: Chr5:112838231	APC	Q851H, Q879H, Q495H, Q596H, Q788H, Q861H, Q778H, Q796H, Q820H, Q854H, Q869H, Q889H, Q907H, Q719H, Q750H, Q753H, Q838H, Q872H, Q897H	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Uncertain significance (Apr 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217824887.	NM_000038.6(APC):c.2471C>G (p.Pro824Arg) GRCh37: Chr5:112173762 GRCh38: Chr5:112838065	APC	P733R, P741R, P664R, P723R, P765R, P806R, P842R, P695R, P698R, P799R, P814R, P817R, P440R, P541R, P783R, P796R, P824R, P834R, P852R	Familial adenomatous polyposis 1	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 217804688.	NM_000038.6(APC):c.1303A>G (p.Lys435Glu) GRCh37: Chr5:112155032 GRCh38: Chr5:112819335	APC	K407E, K275E, K306E, K344E, K435E, K334E, K410E, K445E, K51E, K152E, K309E, K376E, K417E	Familial adenomatous polyposis 1	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 217740589.	NM_000038.6(APC):c.7274G>C (p.Ser2425Thr) GRCh37: Chr5:112178565 GRCh38: Chr5:112842868	APC	S2041T, S2142T, S2265T, S2418T, S2443T, S2453T, S2296T, S2299T, S2397T, S2425T, S2334T, S2342T, S2407T, S2415T, S2324T, S2366T, S2384T, S2400T, S2435T	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Uncertain significance (Mar 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 217546590.	NM_001127511.3(APC):c.-106G>C GRCh37: Chr5:112043309 GRCh38: Chr5:112707612	APC		Familial adenomatous polyposis 1	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 217544891.	NM_000038.6(APC):c.2464C>G (p.Leu822Val) GRCh37: Chr5:112173755 GRCh38: Chr5:112838058	APC	L696V, L731V, L794V, L797V, L812V, L850V, L438V, L721V, L739V, L815V, L539V, L693V, L781V, L804V, L822V, L840V, L662V, L763V, L832V	Familial adenomatous polyposis 1	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 217540192.	NM_000038.6(APC):c.2605A>G (p.Asn869Asp) GRCh37: Chr5:112173896 GRCh38: Chr5:112838199	APC	N879D, N897D, N740D, N743D, N778D, N844D, N851D, N869D, N586D, N709D, N786D, N810D, N841D, N859D, N862D, N485D, N768D, N828D, N887D	Familial adenomatous polyposis 1	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 217497093.	NM_000038.6(APC):c.2401T>G (p.Phe801Val) GRCh37: Chr5:112173692 GRCh38: Chr5:112837995	APC	F417V, F675V, F718V, F760V, F776V, F819V, F710V, F742V, F773V, F801V, F791V, F518V, F641V, F672V, F700V, F783V, F794V, F811V, F829V	Familial adenomatous polyposis 1	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 217354394.	NM_000038.6(APC):c.1548+10del GRCh37: Chr5:112162950 GRCh38: Chr5:112827253	APC		Familial adenomatous polyposis 1	Benign (Sep 26, 2022)	criteria provided, single submitter
Select item 217324495.	NM_000038.6(APC):c.730-8C>G GRCh37: Chr5:112136968 GRCh38: Chr5:112801271	APC		Familial adenomatous polyposis 1	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 217292996.	NM_000038.6(APC):c.6688A>T (p.Met2230Leu) GRCh37: Chr5:112177979 GRCh38: Chr5:112842282	APC	M1846L, M1947L, M2070L, M2104L, M2202L, M2223L, M2240L, M2139L, M2147L, M2171L, M2220L, M2258L, M2129L, M2189L, M2212L, M2248L, M2101L, M2205L, M2230L	Familial adenomatous polyposis 1	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 217268397.	NM_000038.6(APC):c.190G>A (p.Gly64Arg) GRCh37: Chr5:112102077 GRCh38: Chr5:112766380	APC	G5R, G64R, G74R, G39R	Familial adenomatous polyposis 1	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 217057398.	NM_000038.6(APC):c.2747_2750dup (p.Glu918fs) GRCh37: Chr5:112174035-112174036 GRCh38: Chr5:112838338-112838339	APC	E758fs, E792fs, E817fs, E890fs, E893fs, E936fs, E635fs, E827fs, E859fs, E900fs, E918fs, E877fs, E928fs	Familial adenomatous polyposis 1	Pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 216835999.	NC_000005.9:g.112043123A>T GRCh37: Chr5:112043123 GRCh38: Chr5:112707426	APC		Familial adenomatous polyposis 1	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 2167776100.	NM_000038.6(APC):c.4637A>G (p.Asn1546Ser) GRCh37: Chr5:112175928 GRCh38: Chr5:112840231	APC	N1386S, N1445S, N1455S, N1521S, N1536S, N1546S, N1505S, N1518S, N1528S, N1539S, N1162S, N1263S, N1417S, N1420S, N1463S, N1487S, N1564S, N1574S, N1556S	Familial adenomatous polyposis 1	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter

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