ClinVar for MedGen (Select 147065) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10507811.	NM_006231.4(POLE):c.4375G>T (p.Glu1459Ter) GRCh37: Chr12:133220062 GRCh38: Chr12:132643476	POLE	E1459*	Colorectal cancer, susceptibility to, 12, Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	Conflicting interpretations of pathogenicity (Jan 1, 2023)	criteria provided, conflicting interpretations
Select item 10507802.	NM_000251.3(MSH2):c.1760-3_2005+453del GRCh37: Chr2:47702161-47702862 GRCh38: Chr2:47475022-47475723	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 10507723.	NM_000251.3(MSH2):c.1387-2del GRCh37: Chr2:47690168 GRCh38: Chr2:47463029	MSH2		Hereditary nonpolyposis colorectal neoplasms	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 10507264.	NM_000251.3(MSH2):c.-1_211+1177del GRCh37: Chr2:47630328-47631716 GRCh38: Chr2:47403189-47404577	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 10507235.	NM_000251.3(MSH2):c.999dup (p.Lys334Ter) GRCh37: Chr2:47643490-47643491 GRCh38: Chr2:47416351-47416352	MSH2	K268, K334	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 10507226.	NM_000038.6(APC):c.604del (p.Glu202fs) GRCh37: Chr5:112116559 GRCh38: Chr5:112780862	APC	E143fs, E177fs, E202fs, E212fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 10506897.	NM_000038.6(APC):c.3079del (p.Tyr1027fs) GRCh37: Chr5:112174369 GRCh38: Chr5:112838672	APC	Y1002fs, Y1009fs, Y1027fs, Y1037fs, Y1045fs, Y744fs, Y867fs, Y901fs, Y926fs, Y936fs, Y968fs, Y986fs, Y999fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 10506458.	NM_000249.4(MLH1):c.1559-2_1667+1del GRCh37: Chr3:37081675-37081786 GRCh38: Chr3:37040184-37040295	MLH1		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 10506359.	NM_005359.6(SMAD4):c.733C>T (p.Gln245Ter) GRCh37: Chr18:48584560 GRCh38: Chr18:51058190	SMAD4	Q245*	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105062010.	NM_000179.3(MSH6):c.4001+11_4001+19del GRCh37: Chr2:48033800-48033808 GRCh38: Chr2:47806661-47806669	MSH6		Carcinoma of colon	Likely benign	no assertion criteria provided
Select item 105061411.	NM_000038.6(APC):c.4164_4165del (p.Ser1389fs) GRCh37: Chr5:112175455-112175456 GRCh38: Chr5:112839758-112839759	APC	S1106fs, S1229fs, S1263fs, S1288fs, S1298fs, S1330fs, S1348fs, S1361fs, S1364fs, S1371fs, S1389fs, S1399fs, S1407fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105061112.	NM_000038.6(APC):c.1313-2_1743+144del GRCh37: Chr5:112157591-112164813 GRCh38: Chr5:112821894-112829116	APC		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105057713.	NM_000251.3(MSH2):c.1662-1_1759+1048del GRCh37: Chr2:47698099-47699245 GRCh38: Chr2:47470960-47472106	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105049614.	NM_002691.4(POLD1):c.-1-12C>T GRCh37: Chr19:50902096 GRCh38: Chr19:50398839	POLD1		Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 105048915.	NM_000249.4(MLH1):c.1770_1772delinsC (p.Leu590fs) GRCh37: Chr3:37089048-37089050 GRCh38: Chr3:37047557-37047559	MLH1	L232fs, L249fs, L349fs, L492fs, L557fs, L590fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105047616.	NM_000038.6(APC):c.3026del (p.His1009fs) GRCh37: Chr5:112174317 GRCh38: Chr5:112838620	APC	H1009fs, H1019fs, H1027fs, H726fs, H849fs, H883fs, H908fs, H918fs, H950fs, H968fs, H981fs, H984fs, H991fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105044917.	NM_000038.6(APC):c.3847del (p.Ala1283fs) GRCh37: Chr5:112175138 GRCh38: Chr5:112839441	APC	A1000fs, A1123fs, A1157fs, A1182fs, A1192fs, A1224fs, A1242fs, A1255fs, A1258fs, A1265fs, A1283fs, A1293fs, A1301fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105042818.	NM_000251.3(MSH2):c.1077-2_1276+1del GRCh37: Chr2:47656879-47657081 GRCh38: Chr2:47429740-47429942	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
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 105039720.	NM_000038.6(APC):c.6081C>T (p.Leu2027=) GRCh37: Chr5:112177372 GRCh38: Chr5:112841675	APC		Hereditary cancer-predisposing syndrome	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 105038921.	NM_000038.6(APC):c.2487del (p.Val830fs) GRCh37: Chr5:112173778 GRCh38: Chr5:112838081	APC	V547fs, V670fs, V704fs, V729fs, V739fs, V771fs, V789fs, V802fs, V805fs, V812fs, V830fs, V840fs, V848fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105035322.	NM_000179.3(MSH6):c.-2_260+3387del GRCh37: Chr2:48010371-48014019 GRCh38: Chr2:47783232-47786880	LOC129933708, LOC129933707, MSH6		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105031623.	NM_000038.6(APC):c.2928_2929del (p.Gly977fs) GRCh37: Chr5:112174217-112174218 GRCh38: Chr5:112838520-112838521	APC	G694fs, G817fs, G851fs, G876fs, G886fs, G918fs, G936fs, G949fs, G952fs, G959fs, G977fs, G987fs, G995fs	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Pathogenic (Aug 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 105024924.	NM_000179.3(MSH6):c.3860_3873dup (p.Gly1292fs) GRCh37: Chr2:48033648-48033649 GRCh38: Chr2:47806509-47806510	MSH6	G1162fs, G1292fs, G990fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105024025.	NM_000249.4(MLH1):c.1816G>C (p.Gly606Arg) GRCh37: Chr3:37089094 GRCh38: Chr3:37047603	MLH1	G248R, G265R, G365R, G508R, G573R, G606R	Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 105018526.	NM_000249.4(MLH1):c.1039-2_1409+150del GRCh37: Chr3:37067124-37067646 GRCh38: Chr3:37025633-37026155	MLH1		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105013327.	NM_000038.6(APC):c.1046_1140del (p.Gln349fs) GRCh37: Chr5:112154775-112154869 GRCh38: Chr5:112819078-112819172	APC	Q290fs, Q321fs, Q324fs, Q331fs, Q349fs, Q359fs, Q66fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105012828.	NM_000251.3(MSH2):c.367-2_645+1del GRCh37: Chr2:47637231-47637512 GRCh38: Chr2:47410092-47410373	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105010229.	NM_024675.4(PALB2):c.892_893del (p.Val298fs) GRCh37: Chr16:23646974-23646975 GRCh38: Chr16:23635653-23635654	PALB2	V298fs	Carcinoma of colon	Likely pathogenic	no assertion criteria provided
Select item 105009930.	NM_000251.3(MSH2):c.-2_211+1del GRCh37: Chr2:47630328-47630541 GRCh38: Chr2:47403189-47403402	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105006031.	NM_000455.5(STK11):c.734+14C>A GRCh37: Chr19:1220730 GRCh38: Chr19:1220731	STK11		Peutz-Jeghers syndrome	Likely benign (Dec 5, 2021)	criteria provided, single submitter
Select item 105005832.	NM_002354.3(EPCAM):c.859-2_903+43del GRCh37: Chr2:47612303-47612392 GRCh38: Chr2:47385164-47385253	EPCAM		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105003333.	NM_000251.3(MSH2):c.212-2_366+1del GRCh37: Chr2:47635538-47635695 GRCh38: Chr2:47408399-47408556	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105002834.	NM_000038.6(APC):c.423-8A>G GRCh37: Chr5:112111318 GRCh38: Chr5:112775621	APC		Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1	Likely pathogenic (Jun 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 105002735.	NM_000179.3(MSH6):c.3439-2_3556+1del GRCh37: Chr2:48032047-48032167 GRCh38: Chr2:47804908-47805028	MSH6		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105002536.	NM_000179.3(MSH6):c.457+1G>T GRCh37: Chr2:48018263 GRCh38: Chr2:47791124	MSH6	G153V	Hereditary cancer-predisposing syndrome	Likely pathogenic (Feb 20, 2018)	criteria provided, single submitter
Select item 105001837.	NM_000251.3(MSH2):c.943-2_1076+1del GRCh37: Chr2:47643433-47643569 GRCh38: Chr2:47416294-47416430	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105001738.	NM_000249.4(MLH1):c.365del (p.Gly122fs) GRCh37: Chr3:37045949 GRCh38: Chr3:37004458	MLH1	G122fs, G24fs, G89fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105000239.	NM_000251.3(MSH2):c.-2_211+156del GRCh37: Chr2:47630329-47630697 GRCh38: Chr2:47403190-47403558	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 105000040.	NM_000251.3(MSH2):c.2444del (p.Tyr815fs) GRCh37: Chr2:47705644 GRCh38: Chr2:47478505	MSH2	Y749fs, Y815fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104997741.	NM_000251.3(MSH2):c.2006-12T>G GRCh37: Chr2:47703494 GRCh38: Chr2:47476355	MSH2		Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 104994542.	NM_000038.6(APC):c.1592C>G (p.Ala531Gly) GRCh37: Chr5:112163669 GRCh38: Chr5:112827972	APC	A248G, A371G, A405G, A430G, A440G, A472G, A490G, A503G, A506G, A513G, A531G, A541G, A549G	Familial adenomatous polyposis 1	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter
Select item 104989943.	NM_000038.6(APC):c.423-3_531+198del GRCh37: Chr5:112111323-112111632 GRCh38: Chr5:112775626-112775935	APC		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104989144.	NM_000038.6(APC):c.1374T>C (p.Phe458=) GRCh37: Chr5:112157654 GRCh38: Chr5:112821957	APC		Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 104981145.	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 104980946.	NM_000535.7(PMS2):c.2506del (p.Glu836fs) GRCh37: Chr7:6013113 GRCh38: Chr7:5973482	PMS2	E525fs, E645fs, E649fs, E701fs, E712fs, E730fs, E733fs, E784fs, E836fs, E847fs	Hereditary cancer-predisposing syndrome	Pathogenic (Feb 12, 2019)	criteria provided, single submitter
Select item 104979247.	NM_000179.3(MSH6):c.3554_3556+2del GRCh37: Chr2:48032162-48032166 GRCh38: Chr2:47805023-47805027	MSH6		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104978648.	NM_004360.5(CDH1):c.2327T>C (p.Leu776Pro) GRCh37: Chr16:68863588 GRCh38: Chr16:68829685	CDH1	L121P, L260P, L715P, L776P	Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 3, 2020)	criteria provided, single submitter
Select item 104977849.	NM_000038.6(APC):c.-2_135+1824del GRCh37: Chr5:112090586-112092546 GRCh38: Chr5:112754889-112756849	APC		Malignant tumor of breast, Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104977250.	NM_000038.6(APC):c.1409-2del GRCh37: Chr5:112162803 GRCh38: Chr5:112827106	APC		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104977051.	NM_000179.3(MSH6):c.1982del (p.Gly661fs) GRCh37: Chr2:48027103 GRCh38: Chr2:47799964	MSH6	G359fs, G531fs, G661fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104974352.	NM_000251.3(MSH2):c.212-1_366+1dup GRCh37: Chr2:47635538-47635539 GRCh38: Chr2:47408399-47408400	MSH2		Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 104974053.	NM_000249.4(MLH1):c.1355C>T (p.Thr452Ile) GRCh37: Chr3:37067444 GRCh38: Chr3:37025953	MLH1	T111I, T211I, T354I, T419I, T452I, T94I	Carcinoma of colon	Likely pathogenic	no assertion criteria provided
Select item 104967954.	NM_007294.4(BRCA1):c.1431A>G (p.Val477=) GRCh37: Chr17:41246117 GRCh38: Chr17:43094100	BRCA1		Carcinoma of colon	Likely benign	no assertion criteria provided
Select item 104967355.	NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer) GRCh37: Chr3:37067456 GRCh38: Chr3:37025965	MLH1		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104967056.	NM_000249.4(MLH1):c.1896+1G>C GRCh37: Chr3:37089175 GRCh38: Chr3:37047684	MLH1		Hereditary nonpolyposis colorectal neoplasms	Pathogenic (May 30, 2022)	criteria provided, single submitter
Select item 104966957.	NM_000038.6(APC):c.4142C>G (p.Pro1381Arg) GRCh37: Chr5:112175433 GRCh38: Chr5:112839736	APC	P1098R, P1221R, P1255R, P1280R, P1290R, P1322R, P1340R, P1353R, P1356R, P1363R, P1381R, P1391R, P1399R	Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 104961058.	NM_000535.7(PMS2):c.1145-1_2006+2del GRCh37: Chr7:6026388-6027252 GRCh38: Chr7:5986757-5987621	PMS2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104960559.	NM_000059.4(BRCA2):c.8488-15A>G GRCh37: Chr13:32945078 GRCh38: Chr13:32370941	BRCA2		Hereditary breast ovarian cancer syndrome	Likely benign (Jan 26, 2019)	criteria provided, single submitter
Select item 104957960.	NM_000038.6(APC):c.4138A>G (p.Thr1380Ala) GRCh37: Chr5:112175429 GRCh38: Chr5:112839732	APC	T1097A, T1220A, T1254A, T1279A, T1289A, T1321A, T1339A, T1352A, T1355A, T1362A, T1380A, T1390A, T1398A	Familial adenomatous polyposis 1	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 104957661.	NM_007294.4(BRCA1):c.5194-1_5277+2del GRCh37: Chr17:41209067-41209153 GRCh38: Chr17:43057050-43057136	BRCA1		Carcinoma of colon, Malignant tumor of breast, Breast-ovarian cancer, familial, susceptibility to, 1	Pathogenic	no assertion criteria provided
Select item 104957462.	NM_000038.6(APC):c.1259_1269del (p.Cys420fs) GRCh37: Chr5:112154988-112154998 GRCh38: Chr5:112819291-112819301	APC	C137fs, C260fs, C294fs, C319fs, C329fs, C361fs, C392fs, C395fs, C402fs, C420fs, C430fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104955263.	NM_024675.4(PALB2):c.941A>G (p.Gln314Arg) GRCh37: Chr16:23646926 GRCh38: Chr16:23635605	PALB2	Q314R	Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 104950864.	NM_000249.4(MLH1):c.631_632del (p.Ser211fs) GRCh37: Chr3:37053543-37053544 GRCh38: Chr3:37012052-37012053	MLH1	S113fs, S178fs, S211fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104949765.	NM_000038.6(APC):c.1744-2_1958+1del GRCh37: Chr5:112170646-112170863 GRCh38: Chr5:112834949-112835166	APC		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104947066.	NM_000179.3(MSH6):c.3557-3_3573del GRCh37: Chr2:48032748-48032767 GRCh38: Chr2:47805609-47805628	MSH6		Carcinoma of colon	Likely pathogenic	no assertion criteria provided
Select item 104941867.	NM_000535.7(PMS2):c.368del (p.Ser123fs) GRCh37: Chr7:6042253 GRCh38: Chr7:6002622	PMS2	S123fs, S17fs, S20fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104939568.	NM_000249.4(MLH1):c.1504A>G (p.Asn502Asp) GRCh37: Chr3:37070369 GRCh38: Chr3:37028878	MLH1	N144D, N161D, N261D, N404D, N469D, N502D	Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 104939369.	NM_000179.3(MSH6):c.458-2_627+1del GRCh37: Chr2:48023031-48023203 GRCh38: Chr2:47795892-47796064	MSH6		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104936970.	NM_000179.3(MSH6):c.1855G>T (p.Glu619Ter) GRCh37: Chr2:48026977 GRCh38: Chr2:47799838	MSH6	E317, E489, E619*	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104936771.	NM_000251.3(MSH2):c.367-28A>G GRCh37: Chr2:47637205 GRCh38: Chr2:47410066	MSH2		Carcinoma of colon	Likely benign	no assertion criteria provided
Select item 104934472.	NM_000251.3(MSH2):c.2006-2_2210+1del GRCh37: Chr2:47703504-47703711 GRCh38: Chr2:47476365-47476572	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104933573.	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 104924874.	NM_000249.4(MLH1):c.1039-2_1409+1del GRCh37: Chr3:37067126-37067499 GRCh38: Chr3:37025635-37026008	MLH1		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104924175.	NM_000251.3(MSH2):c.212-1_366+712del GRCh37: Chr2:47635538-47636405 GRCh38: Chr2:47408399-47409266	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104916776.	NM_002354.3(EPCAM):c.556-3_657+288del GRCh37: Chr2:47606089-47606481 GRCh38: Chr2:47378950-47379342	EPCAM		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104910177.	NM_000179.3(MSH6):c.1089dup (p.Val364fs) GRCh37: Chr2:48026210-48026211 GRCh38: Chr2:47799071-47799072	MSH6	V234fs, V364fs, V62fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104907778.	NM_000038.6(APC):c.2893_2896del (p.Asn965fs) GRCh37: Chr5:112174182-112174185 GRCh38: Chr5:112838485-112838488	APC	N682fs, N805fs, N839fs, N864fs, N874fs, N906fs, N924fs, N937fs, N940fs, N947fs, N965fs, N975fs, N983fs	not provided, Hereditary cancer-predisposing syndrome	Pathogenic (Jan 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 104907679.	NM_000038.6(APC):c.-2_136-2903del GRCh37: Chr5:112090586-112099120 GRCh38: Chr5:112754889-112763423	APC		Desmoid tumors, Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104905980.	NM_000179.3(MSH6):c.167G>T (p.Gly56Val) GRCh37: Chr2:48010539 GRCh38: Chr2:47783400	MSH6	G56V	Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 21, 2021)	criteria provided, single submitter
Select item 104897381.	NM_000249.4(MLH1):c.2258_2259dup (p.Glu754fs) GRCh37: Chr3:37092129-37092130 GRCh38: Chr3:37050638-37050639	MLH1	E396fs, E413fs, E513fs, E656fs, E685fs, E699fs, E721fs, E723fs, E754fs	Carcinoma of colon	Likely pathogenic	no assertion criteria provided
Select item 104890482.	NM_000251.3(MSH2):c.646-1_792+486del GRCh37: Chr2:47639549-47640182 GRCh38: Chr2:47412410-47413043	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104889583.	NM_000249.4(MLH1):c.908T>G (p.Val303Gly) GRCh37: Chr3:37061824 GRCh38: Chr3:37020333	MLH1	V205G, V270G, V303G, V62G	Carcinoma of colon	Uncertain significance	no assertion criteria provided
Select item 104888884.	NM_000249.4(MLH1):c.2131dup (p.Ser711fs) GRCh37: Chr3:37092003-37092004 GRCh38: Chr3:37050512-37050513	MLH1	S353fs, S370fs, S470fs, S613fs, S642fs, S656fs, S678fs, S680fs, S711fs	Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104882085.	NM_000251.3(MSH2):c.-4_211+864del GRCh37: Chr2:47630326-47631404 GRCh38: Chr2:47403187-47404265	MSH2		Carcinoma of colon	Pathogenic	no assertion criteria provided
Select item 104881486.	NM_000251.3(MSH2):c.459del (p.Ala154fs) GRCh37: Chr2:47637324 GRCh38: Chr2:47410185	MSH2	A154fs, A88fs	Carcinoma of colon, Endometrial carcinoma, Lynch syndrome	Pathogenic	no assertion criteria provided
Select item 102266087.	NM_000038.6(APC):c.2789C>T (p.Thr930Ile) GRCh37: Chr5:112174080 GRCh38: Chr5:112838383	APC	T647I, T770I, T804I, T829I, T839I, T871I, T889I, T902I, T905I, T912I, T930I, T940I, T948I	Familial adenomatous polyposis 1	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 102063188.	NM_006231.4(POLE):c.4560C>G (p.Ser1520Arg) GRCh37: Chr12:133219574 GRCh38: Chr12:132642988	POLE	S1520R	Colorectal cancer, susceptibility to, 12, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101202589.	NM_000179.3(MSH6):c.1600A>G (p.Asn534Asp) GRCh37: Chr2:48026722 GRCh38: Chr2:47799583	MSH6	N232D, N404D, N534D	Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 100744590.	NM_024675.4(PALB2):c.1720T>C (p.Ser574Pro) GRCh37: Chr16:23641755 GRCh38: Chr16:23630434	PALB2	S574P	Familial cancer of breast, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 95992291.	NM_006231.4(POLE):c.579-2A>G GRCh37: Chr12:133254307 GRCh38: Chr12:132677721	POLE		Colorectal cancer, susceptibility to, 12	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 92753392.	NM_000249.4(MLH1):c.1573T>C (p.Leu525=) GRCh37: Chr3:37081691 GRCh38: Chr3:37040200	MLH1		Hereditary cancer-predisposing syndrome	Likely benign (Nov 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92589893.	NM_000314.8(PTEN):c.450G>A (p.Glu150=) GRCh37: Chr10:89692966 GRCh38: Chr10:87933209	PTEN		PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome	Likely benign (Mar 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 92319694.	NM_000179.3(MSH6):c.394_395del (p.Gln132fs) GRCh37: Chr2:48018198-48018199 GRCh38: Chr2:47791059-47791060	MSH6	Q132fs	Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 92142095.	NM_000051.4(ATM):c.3403-14A>G GRCh37: Chr11:108151708 GRCh38: Chr11:108280981	ATM		Hereditary cancer-predisposing syndrome	Likely benign (Feb 26, 2016)	criteria provided, single submitter
Select item 86469096.	NM_000038.6(APC):c.6271G>A (p.Gly2091Ser) GRCh37: Chr5:112177562 GRCh38: Chr5:112841865	APC	G1808S, G1990S, G2032S, G2073S, G1965S, G2063S, G2109S, G1931S, G2000S, G2050S, G2066S, G2101S, G2091S	Familial adenomatous polyposis 1	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 83659397.	NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly) GRCh37: Chr11:108236233 GRCh38: Chr11:108365506	ATM, C11orf65		Ataxia-telangiectasia syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 83018598.	NM_024675.4(PALB2):c.3026C>T (p.Pro1009Leu) GRCh37: Chr16:23632770 GRCh38: Chr16:23621449	PALB2	P1009L	Carcinoma of colon	Uncertain significance (Jan 31, 2017)	no assertion criteria provided
Select item 83009699.	NM_024675.4(PALB2):c.247C>A (p.His83Asn) GRCh37: Chr16:23647620 GRCh38: Chr16:23636299	PALB2	H83N	Carcinoma of colon	Uncertain significance (Jan 31, 2017)	no assertion criteria provided
Select item 830095100.	NM_024675.4(PALB2):c.227T>C (p.Ile76Thr) GRCh37: Chr16:23647640 GRCh38: Chr16:23636319	PALB2	I76T	Familial cancer of breast	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter

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