ClinVar for MedGen (Select 474474) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 1827

<< First< Prev

Page of 19

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25778961.	NM_001048174.2(MUTYH):c.1058G>C (p.Gly353Ala) GRCh37: Chr1:45797377 GRCh38: Chr1:45331705	MUTYH	G238A, G261A, G325A, G339A, G340A, G353A, G354A, G360A, G364A, G367A, G368A, G378A, G381A	Familial adenomatous polyposis 2	Uncertain significance (Jun 15, 2023)	criteria provided, single submitter
Select item 25732442.	NM_001048174.2(MUTYH):c.1269dup (p.Thr424fs) GRCh37: Chr1:45796976-45796977 GRCh38: Chr1:45331304-45331305	MUTYH	T309fs, T332fs, T396fs, T410fs, T411fs, T424fs, T425fs, T431fs, T435fs, T438fs, T439fs, T449fs, T452fs	Familial adenomatous polyposis 2	Likely pathogenic (Mar 21, 2023)	criteria provided, single submitter
Select item 24237733.	NC_000001.10:g.(?_45800053)_(45809328_?)dup GRCh37: Chr1:45800053-45809328	TOE1, MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 24237724.	NC_000001.10:g.(?_45798384)_(45798589_?)del GRCh37: Chr1:45798384-45798589	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 24237715.	NC_000001.10:g.(?_45796178)_(45796257_?)del GRCh37: Chr1:45796178-45796257	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Sep 17, 2022)	criteria provided, single submitter
Select item 24183756.	NM_001048174.2(MUTYH):c.1435-8T>A GRCh37: Chr1:45795117 GRCh38: Chr1:45329445	MUTYH		Familial adenomatous polyposis 2	Likely benign (Jan 23, 2022)	criteria provided, single submitter
Select item 24175527.	NM_001048174.2(MUTYH):c.116-45C>T GRCh37: Chr1:45799278 GRCh38: Chr1:45333606	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 22027558.	NM_001048174.2(MUTYH):c.482G>A (p.Gly161Glu) GRCh37: Chr1:45798445 GRCh38: Chr1:45332773	MUTYH	G162E, G189E, G133E, G148E, G186E, G46E, G168E, G172E, G175E, G176E, G69E, G147E, G161E	Familial adenomatous polyposis 2	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 21992129.	NM_001048174.2(MUTYH):c.606+16dup GRCh37: Chr1:45798229-45798230 GRCh38: Chr1:45332557-45332558	MUTYH		Familial adenomatous polyposis 2	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 219758610.	NM_001048174.2(MUTYH):c.849+17A>C GRCh37: Chr1:45797821 GRCh38: Chr1:45332149	MUTYH		Familial adenomatous polyposis 2	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 219424611.	NM_001048174.2(MUTYH):c.116-60C>T GRCh37: Chr1:45799293 GRCh38: Chr1:45333621	MUTYH		Familial adenomatous polyposis 2	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 219361812.	NM_001048174.2(MUTYH):c.468G>A (p.Arg156=) GRCh37: Chr1:45798459 GRCh38: Chr1:45332787	MUTYH		Familial adenomatous polyposis 2	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 219010713.	NM_001048174.2(MUTYH):c.1526T>A (p.Ile509Asn) GRCh37: Chr1:45795018 GRCh38: Chr1:45329346	MUTYH	I496N, I534N, I523N, I537N, I417N, I495N, I516N, I524N, I394N, I481N, I509N, I510N, I520N	Familial adenomatous polyposis 2	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 218548914.	NM_001048174.2(MUTYH):c.850-4T>A GRCh37: Chr1:45797762 GRCh38: Chr1:45332090	MUTYH		Familial adenomatous polyposis 2	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218528615.	NM_001048174.2(MUTYH):c.704+20A>G GRCh37: Chr1:45798043 GRCh38: Chr1:45332371	MUTYH		Familial adenomatous polyposis 2	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 218418116.	NM_001048174.2(MUTYH):c.86A>G (p.Asn29Ser) GRCh37: Chr1:45800092 GRCh38: Chr1:45334420	MUTYH	N29S, N35S, N43S	Familial adenomatous polyposis 2	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 217355517.	NM_001048174.2(MUTYH):c.913+4A>G GRCh37: Chr1:45797691 GRCh38: Chr1:45332019	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 216303418.	NM_001048174.2(MUTYH):c.-6-6T>G GRCh37: Chr1:45800189 GRCh38: Chr1:45334517	MUTYH		Familial adenomatous polyposis 2	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 216302119.	NM_001048174.2(MUTYH):c.956A>G (p.Glu319Gly) GRCh37: Chr1:45797479 GRCh38: Chr1:45331807	MUTYH	E291G, E333G, E204G, E319G, E320G, E305G, E306G, E344G, E347G, E227G, E326G, E330G, E334G	Familial adenomatous polyposis 2	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 216042020.	NM_001048174.2(MUTYH):c.321C>T (p.Val107=) GRCh37: Chr1:45798826 GRCh38: Chr1:45333154	MUTYH		Familial adenomatous polyposis 2	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 215988921.	NM_001048174.2(MUTYH):c.304+4A>T GRCh37: Chr1:45798953 GRCh38: Chr1:45333281	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 215775522.	NM_001048174.2(MUTYH):c.1528T>C (p.Ser510Pro) GRCh37: Chr1:45795016 GRCh38: Chr1:45329344	MUTYH	S521P, S524P, S535P, S538P, S395P, S418P, S482P, S496P, S497P, S510P, S517P, S511P, S525P	Familial adenomatous polyposis 2	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 214507523.	NM_001048174.2(MUTYH):c.723G>T (p.Leu241=) GRCh37: Chr1:45797964 GRCh38: Chr1:45332292	MUTYH		Familial adenomatous polyposis 2	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 213529524.	NM_001048174.2(MUTYH):c.443G>T (p.Gly148Val) GRCh37: Chr1:45798484 GRCh38: Chr1:45332812	MUTYH	G120V, G134V, G149V, G155V, G159V, G163V, G173V, G135V, G148V, G162V, G176V, G33V, G56V	Familial adenomatous polyposis 2	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 213390725.	NM_001048174.2(MUTYH):c.1003_1006dup (p.Arg336fs) GRCh37: Chr1:45797428-45797429 GRCh38: Chr1:45331756-45331757	MUTYH	R336fs, R361fs, R221fs, R337fs, R244fs, R351fs, R364fs, R347fs	Familial adenomatous polyposis 2	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 213389026.	NM_001048174.2(MUTYH):c.1494G>T (p.Gln498His) GRCh37: Chr1:45795050 GRCh38: Chr1:45329378	MUTYH	Q485H, Q498H, Q499H, Q505H, Q523H, Q406H, Q512H, Q513H, Q383H, Q470H, Q484H, Q509H, Q526H	Familial adenomatous polyposis 2	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 213246027.	NM_001048174.2(MUTYH):c.232C>A (p.Gln78Lys) GRCh37: Chr1:45799117 GRCh38: Chr1:45333445	MUTYH	Q106K, Q103K, Q85K, Q89K, Q92K, Q50K, Q78K, Q79K, Q93K	Familial adenomatous polyposis 2	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 213208528.	NM_001048174.2(MUTYH):c.780A>T (p.Thr260=) GRCh37: Chr1:45797907 GRCh38: Chr1:45332235	MUTYH		Familial adenomatous polyposis 2	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 213159429.	NM_001048174.2(MUTYH):c.548T>C (p.Leu183Pro) GRCh37: Chr1:45798304 GRCh38: Chr1:45332632	MUTYH	L169P, L68P, L170P, L194P, L197P, L198P, L155P, L184P, L190P, L208P, L183P, L211P, L91P	Familial adenomatous polyposis 2	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 213151730.	NM_001048174.2(MUTYH):c.1211C>A (p.Pro404Gln) GRCh37: Chr1:45797120 GRCh38: Chr1:45331448	MUTYH	P289Q, P391Q, P404Q, P411Q, P429Q, P390Q, P432Q, P312Q, P376Q, P418Q, P405Q, P415Q, P419Q	Familial adenomatous polyposis 2	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 213026231.	NM_001048174.2(MUTYH):c.1147C>T (p.Pro383Ser) GRCh37: Chr1:45797184 GRCh38: Chr1:45331512	MUTYH	P291S, P370S, P408S, P411S, P383S, P369S, P394S, P397S, P398S, P268S, P355S, P384S, P390S	Familial adenomatous polyposis 2	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 212990932.	NM_001048174.2(MUTYH):c.116-60dup GRCh37: Chr1:45799292-45799293 GRCh38: Chr1:45333620-45333621	MUTYH		Familial adenomatous polyposis 2	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 212951233.	NM_001048174.2(MUTYH):c.250C>A (p.Pro84Thr) GRCh37: Chr1:45799099 GRCh38: Chr1:45333427	MUTYH	P112T, P85T, P99T, P91T, P95T, P56T, P98T, P109T, P84T	Familial adenomatous polyposis 2	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 212876234.	NM_001048174.2(MUTYH):c.-6-11T>G GRCh37: Chr1:45800194 GRCh38: Chr1:45334522	MUTYH		Familial adenomatous polyposis 2	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212714135.	NM_001048174.2(MUTYH):c.116-20G>A GRCh37: Chr1:45799253 GRCh38: Chr1:45333581	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 212582636.	NM_001048174.2(MUTYH):c.91C>T (p.Gln31Ter) GRCh37: Chr1:45800087 GRCh38: Chr1:45334415	MUTYH	Q37, Q31, Q45*	Familial adenomatous polyposis 2	Pathogenic (Apr 13, 2022)	criteria provided, single submitter
Select item 212451637.	NM_001048174.2(MUTYH):c.1466G>A (p.Cys489Tyr) GRCh37: Chr1:45795078 GRCh38: Chr1:45329406	MUTYH	C490Y, C374Y, C461Y, C475Y, C476Y, C503Y, C517Y, C397Y, C489Y, C496Y, C500Y, C504Y, C514Y	Familial adenomatous polyposis 2	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212174838.	NM_025077.4(TOE1):c.-21A>G GRCh37: Chr1:45805904 GRCh38: Chr1:45340232	MUTYH, TOE1	L8P	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2	Uncertain significance (Feb 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 212124539.	NM_001048174.2(MUTYH):c.579G>T (p.Gly193=) GRCh37: Chr1:45798273 GRCh38: Chr1:45332601	MUTYH		Familial adenomatous polyposis 2	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211928640.	NM_001048174.2(MUTYH):c.631G>T (p.Val211Leu) GRCh37: Chr1:45798136 GRCh38: Chr1:45332464	MUTYH	V211L, V218L, V222L, V239L, V197L, V212L, V225L, V226L, V119L, V198L, V96L, V183L, V236L	Familial adenomatous polyposis 2	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211748741.	NM_001048174.2(MUTYH):c.1305_1315dup (p.Thr439delinsArgProGlnTer) GRCh37: Chr1:45796930-45796931 GRCh38: Chr1:45331258-45331259	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211744542.	NM_001048174.2(MUTYH):c.304+1G>A GRCh37: Chr1:45798956 GRCh38: Chr1:45333284	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211673943.	NM_001048174.2(MUTYH):c.-6-18T>A GRCh37: Chr1:45800201 GRCh38: Chr1:45334529	MUTYH		Familial adenomatous polyposis 2	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211635444.	NM_001048174.2(MUTYH):c.1239+16A>C GRCh37: Chr1:45797076 GRCh38: Chr1:45331404	MUTYH		Familial adenomatous polyposis 2	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211635045.	NM_001048174.2(MUTYH):c.890_891insACTAAGCCTCAGGGAGCCTGTCGGG (p.Ser298fs) GRCh37: Chr1:45797717-45797718 GRCh38: Chr1:45332045-45332046	MUTYH	S299fs, S323fs, S206fs, S309fs, S313fs, S298fs, S326fs, S183fs	Familial adenomatous polyposis 2	Pathogenic (Mar 23, 2022)	criteria provided, single submitter
Select item 211408546.	NM_001048174.2(MUTYH):c.837G>C (p.Arg279=) GRCh37: Chr1:45797850 GRCh38: Chr1:45332178	MUTYH		Familial adenomatous polyposis 2	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 211278947.	NM_001048174.2(MUTYH):c.1434+13G>A GRCh37: Chr1:45796175 GRCh38: Chr1:45330503	MUTYH		Familial adenomatous polyposis 2	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 211172848.	NM_001048174.2(MUTYH):c.980dup (p.Val328fs) GRCh37: Chr1:45797454-45797455 GRCh38: Chr1:45331782-45331783	MUTYH	V213fs, V328fs, V329fs, V343fs, V356fs, V236fs, V339fs, V353fs	Familial adenomatous polyposis 2	Likely pathogenic (May 20, 2022)	criteria provided, single submitter
Select item 211133349.	NM_001048174.2(MUTYH):c.966C>G (p.Asp322Glu) GRCh37: Chr1:45797469 GRCh38: Chr1:45331797	MUTYH	D308E, D230E, D309E, D337E, D350E, D207E, D294E, D322E, D329E, D323E, D333E, D336E, D347E	Familial adenomatous polyposis 2	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 211107450.	NM_001048174.2(MUTYH):c.359dup (p.Tyr120Ter) GRCh37: Chr1:45798787-45798788 GRCh38: Chr1:45333115-45333116	MUTYH	Y121, Y120, Y135, Y148, Y145, Y131, Y28*	Familial adenomatous polyposis 2	Pathogenic (Mar 13, 2022)	criteria provided, single submitter
Select item 210769451.	NM_001048174.2(MUTYH):c.518T>G (p.Met173Arg) GRCh37: Chr1:45798334 GRCh38: Chr1:45332662	MUTYH	M160R, M180R, M184R, M198R, M145R, M159R, M187R, M188R, M201R, M58R, M81R, M174R, M173R	Familial adenomatous polyposis 2	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 210769252.	NM_001048174.2(MUTYH):c.114T>C (p.Asp38=) GRCh37: Chr1:45800064 GRCh38: Chr1:45334392	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 210733953.	NM_001048174.2(MUTYH):c.700C>G (p.Leu234Val) GRCh37: Chr1:45798067 GRCh38: Chr1:45332395	MUTYH	L142V, L249V, L241V, L206V, L220V, L245V, L119V, L221V, L234V, L235V, L248V, L259V, L262V	Familial adenomatous polyposis 2	Uncertain significance (Mar 6, 2022)	criteria provided, single submitter
Select item 210491154.	NM_001048174.2(MUTYH):c.1312del (p.Pro437_Val438insTer) GRCh37: Chr1:45796934 GRCh38: Chr1:45331262	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 210461255.	NM_001048174.2(MUTYH):c.142G>A (p.Val48Ile) GRCh37: Chr1:45799207 GRCh38: Chr1:45333535	MUTYH	V49I, V76I, V20I, V48I, V55I, V59I, V63I, V62I, V73I	Familial adenomatous polyposis 2	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 210461056.	NM_001048174.2(MUTYH):c.340G>C (p.Val114Leu) GRCh37: Chr1:45798807 GRCh38: Chr1:45333135	MUTYH	V115L, V125L, V22L, V114L, V121L, V86L, V128L, V129L, V139L, V142L	Familial adenomatous polyposis 2	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 210440557.	NM_001048174.2(MUTYH):c.606+20C>T GRCh37: Chr1:45798226 GRCh38: Chr1:45332554	MUTYH		Familial adenomatous polyposis 2	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 210261858.	NM_001048174.2(MUTYH):c.1563G>A (p.Gln521=) GRCh37: Chr1:45794981 GRCh38: Chr1:45329309	MUTYH		Familial adenomatous polyposis 2	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 210192559.	NM_001048174.2(MUTYH):c.184del (p.Asp61_Val62insTer) GRCh37: Chr1:45799165 GRCh38: Chr1:45333493	MUTYH		Familial adenomatous polyposis 2	Pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 210138660.	NM_001048174.2(MUTYH):c.421-1G>A GRCh37: Chr1:45798507 GRCh38: Chr1:45332835	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 210084961.	NM_001048174.2(MUTYH):c.116-49T>A GRCh37: Chr1:45799282 GRCh38: Chr1:45333610	MUTYH		Familial adenomatous polyposis 2	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 209985962.	NM_001048174.2(MUTYH):c.421-8A>G GRCh37: Chr1:45798514 GRCh38: Chr1:45332842	MUTYH		Familial adenomatous polyposis 2	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209974563.	NM_001048174.2(MUTYH):c.907G>A (p.Glu303Lys) GRCh37: Chr1:45797701 GRCh38: Chr1:45332029	MUTYH	E275K, E314K, E318K, E328K, E331K, E188K, E289K, E304K, E310K, E211K, E303K, E317K, E290K	Familial adenomatous polyposis 2	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 209799364.	NM_001048174.2(MUTYH):c.1367C>T (p.Ala456Val) GRCh37: Chr1:45796879 GRCh38: Chr1:45331207	MUTYH	A341V, A443V, A467V, A364V, A456V, A463V, A470V, A471V, A484V, A428V, A442V, A457V, A481V	Familial adenomatous polyposis 2	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 209722165.	NM_001048174.2(MUTYH):c.115+18G>A GRCh37: Chr1:45800045 GRCh38: Chr1:45334373	MUTYH		Familial adenomatous polyposis 2	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 209630466.	NM_001048174.2(MUTYH):c.1103-9C>A GRCh37: Chr1:45797237 GRCh38: Chr1:45331565	MUTYH		Familial adenomatous polyposis 2	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209628867.	NM_001048174.2(MUTYH):c.910T>A (p.Cys304Ser) GRCh37: Chr1:45797698 GRCh38: Chr1:45332026	MUTYH	C290S, C311S, C318S, C332S, C189S, C276S, C304S, C305S, C212S, C291S, C315S, C319S, C329S	Familial adenomatous polyposis 2	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 209478968.	NM_001048174.2(MUTYH):c.1434+9C>G GRCh37: Chr1:45796179 GRCh38: Chr1:45330507	MUTYH		Familial adenomatous polyposis 2	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 209348569.	NM_001048174.2(MUTYH):c.304+4A>G GRCh37: Chr1:45798953 GRCh38: Chr1:45333281	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 209253370.	NM_001048174.2(MUTYH):c.662T>G (p.Ile221Ser) GRCh37: Chr1:45798105 GRCh38: Chr1:45332433	MUTYH	I193S, I207S, I228S, I232S, I235S, I208S, I236S, I106S, I222S, I249S, I129S, I221S, I246S	Familial adenomatous polyposis 2	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 209156971.	NM_001048174.2(MUTYH):c.-6-2A>T GRCh37: Chr1:45800185 GRCh38: Chr1:45334513	MUTYH		Familial adenomatous polyposis 2	Likely pathogenic (Feb 1, 2022)	criteria provided, single submitter
Select item 209000072.	NM_001048174.2(MUTYH):c.73_81dup (p.Lys27_Asn28insHisAlaLys) GRCh37: Chr1:45800096-45800097 GRCh38: Chr1:45334424-45334425	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 208999973.	NM_001048174.2(MUTYH):c.102_103insGT (p.Ser35fs) GRCh37: Chr1:45800075-45800076 GRCh38: Chr1:45334403-45334404	MUTYH	S35fs, S49fs	Familial adenomatous polyposis 2	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 208996174.	NM_001048174.2(MUTYH):c.850-15C>A GRCh37: Chr1:45797773 GRCh38: Chr1:45332101	MUTYH		Familial adenomatous polyposis 2	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208972675.	NM_001048174.2(MUTYH):c.913+7A>G GRCh37: Chr1:45797688 GRCh38: Chr1:45332016	MUTYH		Familial adenomatous polyposis 2	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208954576.	NM_001048174.2(MUTYH):c.1026G>C (p.Glu342Asp) GRCh37: Chr1:45797409 GRCh38: Chr1:45331737	MUTYH	E250D, E328D, E353D, E314D, E356D, E367D, E329D, E357D, E227D, E342D, E343D, E349D, E370D	Familial adenomatous polyposis 2	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 208823177.	NM_001048174.2(MUTYH):c.1435-84_1512del GRCh37: Chr1:45795032-45795193 GRCh38: Chr1:45329360-45329521	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 208428478.	NM_025077.4(TOE1):c.-30A>G GRCh37: Chr1:45805895 GRCh38: Chr1:45340223	MUTYH, TOE1	L11P	Familial adenomatous polyposis 2	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208305279.	NM_001048174.2(MUTYH):c.1548C>T (p.Leu516=) GRCh37: Chr1:45794996 GRCh38: Chr1:45329324	MUTYH		Familial adenomatous polyposis 2	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 208167980.	NM_001048174.2(MUTYH):c.116-8C>G GRCh37: Chr1:45799241 GRCh38: Chr1:45333569	MUTYH		Familial adenomatous polyposis 2	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 207330681.	NM_001048174.2(MUTYH):c.704+18C>T GRCh37: Chr1:45798045 GRCh38: Chr1:45332373	MUTYH		Familial adenomatous polyposis 2	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 206972082.	NM_001048174.2(MUTYH):c.421-18C>T GRCh37: Chr1:45798524 GRCh38: Chr1:45332852	MUTYH		Familial adenomatous polyposis 2	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 206556083.	NM_001048174.2(MUTYH):c.1131G>C (p.Pro377=) GRCh37: Chr1:45797200 GRCh38: Chr1:45331528	MUTYH		Familial adenomatous polyposis 2	Likely benign (Dec 29, 2021)	criteria provided, single submitter
Select item 206454284.	NM_001048174.2(MUTYH):c.1104T>G (p.Gly368=) GRCh37: Chr1:45797227 GRCh38: Chr1:45331555	MUTYH		Familial adenomatous polyposis 2	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 206450885.	NM_001048174.2(MUTYH):c.1379C>T (p.Thr460Ile) GRCh37: Chr1:45796867 GRCh38: Chr1:45331195	MUTYH	T368I, T475I, T485I, T345I, T447I, T461I, T467I, T488I, T460I, T432I, T446I, T471I, T474I	Familial adenomatous polyposis 2	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 206130786.	NM_001048174.2(MUTYH):c.1197G>T (p.Trp399Cys) GRCh37: Chr1:45797134 GRCh38: Chr1:45331462	MUTYH	W386C, W371C, W385C, W400C, W414C, W413C, W427C, W284C, W307C, W399C, W406C, W410C, W424C	Familial adenomatous polyposis 2	Uncertain significance (Dec 26, 2021)	criteria provided, single submitter
Select item 205696187.	NM_001048174.2(MUTYH):c.914-20T>C GRCh37: Chr1:45797541 GRCh38: Chr1:45331869	MUTYH		Familial adenomatous polyposis 2	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 204517988.	NM_001048174.2(MUTYH):c.493-6A>T GRCh37: Chr1:45798365 GRCh38: Chr1:45332693	MUTYH		Familial adenomatous polyposis 2	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204500289.	NM_001048174.2(MUTYH):c.1056T>C (p.Pro352=) GRCh37: Chr1:45797379 GRCh38: Chr1:45331707	MUTYH		Familial adenomatous polyposis 2	Likely benign (Dec 17, 2021)	criteria provided, single submitter
Select item 204499390.	NM_001048174.2(MUTYH):c.1103-11C>T GRCh37: Chr1:45797239 GRCh38: Chr1:45331567	MUTYH		Familial adenomatous polyposis 2	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 204268091.	NM_025077.4(TOE1):c.-26_-25del GRCh37: Chr1:45805899-45805900 GRCh38: Chr1:45340227-45340228	MUTYH, TOE1	S9fs	Familial adenomatous polyposis 2	Pathogenic (Dec 14, 2021)	criteria provided, single submitter
Select item 204266392.	NM_001048174.2(MUTYH):c.265-19T>C GRCh37: Chr1:45799015 GRCh38: Chr1:45333343	MUTYH		Familial adenomatous polyposis 2	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 204009993.	NM_001048174.2(MUTYH):c.1469G>A (p.Ser490Asn) GRCh37: Chr1:45795075 GRCh38: Chr1:45329403	MUTYH	S505N, S398N, S490N, S462N, S476N, S477N, S501N, S504N, S375N, S491N, S497N, S515N, S518N	Familial adenomatous polyposis 2	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 203885794.	NM_001048174.2(MUTYH):c.1288C>G (p.Leu430Val) GRCh37: Chr1:45796958 GRCh38: Chr1:45331286	MUTYH	L315V, L417V, L441V, L338V, L444V, L455V, L416V, L402V, L430V, L431V, L437V, L445V, L458V	Familial adenomatous polyposis 2	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 203752395.	NM_001048174.2(MUTYH):c.1103-15T>C GRCh37: Chr1:45797243 GRCh38: Chr1:45331571	MUTYH		Familial adenomatous polyposis 2	Likely benign (Dec 8, 2021)	criteria provided, single submitter
Select item 203711196.	NM_025077.4(TOE1):c.-50C>A GRCh37: Chr1:45805875 GRCh38: Chr1:45340203	MUTYH, TOE1		Familial adenomatous polyposis 2	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 203595097.	NM_001048174.2(MUTYH):c.1102+12C>A GRCh37: Chr1:45797321 GRCh38: Chr1:45331649	MUTYH		Familial adenomatous polyposis 2	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 203525798.	NM_001048174.2(MUTYH):c.420+10A>G GRCh37: Chr1:45798580 GRCh38: Chr1:45332908	MUTYH		Familial adenomatous polyposis 2	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 203516799.	NM_001048174.2(MUTYH):c.528A>C (p.Thr176=) GRCh37: Chr1:45798324 GRCh38: Chr1:45332652	MUTYH		Familial adenomatous polyposis 2	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 2034620100.	NM_001048174.2(MUTYH):c.132G>T (p.Pro44=) GRCh37: Chr1:45799217 GRCh38: Chr1:45333545	MUTYH		Familial adenomatous polyposis 2	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter

<< First< Prev

Page of 19