Total 48 pathogenic variants reported for Myhre syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	SNV Germline/somatic	Chr18:51065549	Pathogenic/Likely pathogenic	Carcinoma of pancreas Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Juvenile polyposis syndrome Neoplasm Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA128097	rs_377767347	7 SubmittersRCV000763030 RCV004018654 RCV000520995 RCV000635423 RCV005229823 RCV002316201
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	SNV Germline	Chr18:51078307	Pathogenic	Myhre syndrome Condition: not provided Juvenile polyposis syndrome SMAD4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128977	rs_281875321	12 SubmittersRCV000023060 RCV000059734 RCV001852006 RCV005249996
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SNV Germline	Chr18:51078306	Pathogenic	Myhre syndrome Condition: not provided Carcinoma of pancreas Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Intellectual disability Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Neurodevelopmental delay Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD4-related disorder Familial aortopathy	Criteria Provided Multiple Submitters No Conflicts	CA128979	rs_281875322	46 SubmittersRCV000023061 RCV000059733 RCV000763031 RCV000635427 RCV001260808 RCV001249691 RCV001375955 RCV001376590 RCV004558272 RCV004820822 RCV004745165 RCV005417436
NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met)	SNV Germline	Chr18:51078308	Pathogenic	Myhre syndrome Condition: not provided Juvenile polyposis syndrome	Criteria Provided Single Submitter	CA128981	rs_281875320	5 SubmittersRCV000023062 RCV000059735 RCV005089303
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	SNV Germline	Chr18:51078381	Conflicting classifications of pathogenicity	Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Gastrointestinal polyposis not specified Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA211890	rs_149755320	28 SubmittersRCV000034710 RCV000123259 RCV000148889 RCV000213006 RCV000383039 RCV000327173 RCV000771070 RCV001420980 RCV001170612 RCV002310997
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SNV Germline	Chr18:51078294	Pathogenic/Likely pathogenic	Myhre syndrome Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Juvenile polyposis syndrome SMAD4-related disorder Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Moyamoya angiopathy Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA145285	rs_397518413	29 SubmittersRCV000074360 RCV000160962 RCV000541839 RCV002311544 RCV002228175 RCV002483120 RCV003398656 RCV004767058 RCV004703205 RCV005625264
NM_005359.6(SMAD4):c.424+5G>A	SNV Germline	Chr18:51048865	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA288122	rs_200772603	22 SubmittersRCV000115883 RCV000213004 RCV000204731 RCV000306889 RCV000346296 RCV000656977 RCV000770696 RCV002311002 RCV002228348 RCV004745191
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)	SNV Germline	Chr18:51078461	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome SMAD4-related disorder not specified Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA186803	rs_199526820	11 SubmittersRCV000123261 RCV001125527 RCV001450073 RCV002310679 RCV000162721 RCV003894971 RCV000439984 RCV000858658 RCV001125528
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	SNV Germline	Chr18:51058128	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Carcinoma of pancreas Juvenile polyposis syndrome Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Hereditary cancer-predisposing syndrome not specified SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA332851	rs_587780793	12 SubmittersRCV001358798 RCV002310680 RCV002483236 RCV003315822 RCV000986028 RCV003584556 RCV005237560 RCV003422007
NM_005359.6(SMAD4):c.1140-10T>C	SNV Germline	Chr18:51067009	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Myhre syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas	Criteria Provided Conflicting Classifications	CA293632	rs_186332162	17 SubmittersRCV000128173 RCV000579485 RCV000586605 RCV001127535 RCV001507129 RCV002453458 RCV001080462 RCV001127536 RCV002492489
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)	SNV Germline	Chr18:51065573	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Isolated thoracic aortic aneurysm Condition: not provided not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Carcinoma of pancreas Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA167654	rs_139569694	13 SubmittersRCV000131130 RCV000555043 RCV001374834 RCV000679584 RCV004525878 RCV002311018 RCV002478399 RCV003474774
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	SNV Germline	Chr18:51058134	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome SMAD4-related disorder not specified Myhre syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Familial pancreatic carcinoma Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Carcinoma of pancreas Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA299961	rs_539739051	14 SubmittersRCV000199953 RCV000160959 RCV000260140 RCV000334040 RCV002312690 RCV004745224 RCV004782262 RCV005394562 RCV001420989 RCV000449407 RCV000515353 RCV003483531
NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser)	SNV Germline	Chr18:51059878	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Myhre syndrome Familial pancreatic carcinoma Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA299964	rs_730881953	10 SubmittersRCV000160960 RCV000217266 RCV000468723 RCV003998531 RCV000656978 RCV002310721 RCV005003508
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SNV Germline	Chr18:51047066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Myhre syndrome Pulmonary arterial hypertension Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection not specified SMAD4-related disorder Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Familial pancreatic carcinoma Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA186263	rs_372316981	16 SubmittersRCV000162438 RCV000196213 RCV000764159 RCV000589285 RCV001123230 RCV001328507 RCV001123231 RCV002285148 RCV002310723 RCV002468936 RCV003398830 RCV005394569
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)	SNV Germline	Chr18:51047067	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Condition: not provided SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA186871	rs_142292491	17 SubmittersRCV000162750 RCV000412290 RCV001124331 RCV001124332 RCV001450081 RCV002222413 RCV002310727 RCV000760073 RCV003927534
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	SNV Germline	Chr18:51054861	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA193193	rs_542392980	12 SubmittersRCV000165366 RCV000236451 RCV000764161 RCV001293445 RCV002311026 RCV002470782
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)	SNV Germline	Chr18:51058404	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Hereditary hemorrhagic telangiectasia Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA186319	rs_144378484	14 SubmittersRCV000162465 RCV000417748 RCV000200571 RCV001450056 RCV001124423 RCV001124424 RCV003330520 RCV000589728 RCV002310724
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)	SNV Germline	Chr18:51058193	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Heritable Thoracic Aortic Disease Juvenile polyposis syndrome Generalized juvenile polyposis/juvenile polyposis coli Early age onset of sporadic thoracic aortic dissections Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Myhre syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA10580980	rs_876659967	9 SubmittersRCV000220373 RCV000678043 RCV001312210 RCV000689822 RCV001261774 RCV001124420 RCV001762494 RCV001123336 RCV002311325 RCV005237752
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)	SNV Germline	Chr18:51048778	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli not specified Myhre syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8965768	rs_757211048	7 SubmittersRCV000227775 RCV000441778 RCV001126992 RCV000571677 RCV001450080 RCV001126991 RCV002311351
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)	SNV Germline	Chr18:51078452	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA8966112	rs_756795016	10 SubmittersRCV000226180 RCV000287385 RCV000340035 RCV000573053 RCV000613346 RCV001450069 RCV002311349 RCV003326381 RCV003967648
NM_005359.6(SMAD4):c.667+3G>A	SNV Germline	Chr18:51054996	Conflicting classifications of pathogenicity	Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8965852	rs_757971589	8 SubmittersRCV000263575 RCV000358363 RCV000571451 RCV001328519 RCV000635437 RCV001711942 RCV002314055
NM_005359.6(SMAD4):c.-128+12A>G	SNV Germline	Chr18:51030635	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli not specified	Criteria Provided Conflicting Classifications	CA10651749	rs_886053891	2 SubmittersRCV000267847 RCV000307763 RCV000362423 RCV000613032
NM_005359.6(SMAD4):c.249+10A>C	SNV Germline	Chr18:51047305	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome not specified Juvenile polyposis syndrome Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8965744	rs_752243771	6 SubmittersRCV000295030 RCV000389254 RCV000427458 RCV001450078 RCV000409679 RCV000771622
NM_005359.6(SMAD4):c.*30A>C	SNV Germline	Chr18:51078497	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome	Criteria Provided Conflicting Classifications	CA8966118	rs_767288576	1 SubmittersRCV000298729 RCV000369760 RCV000399233
NM_005359.6(SMAD4):c.*1067G>A	SNV Germline	Chr18:51079534	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10651763	rs_542839921	2 SubmittersRCV000261227 RCV000319786 RCV000372257 RCV003422294
NM_005359.6(SMAD4):c.155A>T (p.Asp52Val)	SNV Germline	Chr18:51047201	Conflicting classifications of pathogenicity	Condition: not provided Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection SMAD4-related disorder Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Carcinoma of pancreas Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA16607944	rs_1057524809	7 SubmittersRCV000419383 RCV000545492 RCV000568719 RCV002311755 RCV003401439 RCV004000594 RCV002506083
NM_005359.6(SMAD4):c.876G>A (p.Pro292=)	SNV Germline	Chr18:51058428	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome	Criteria Provided Conflicting Classifications	CA8965914	rs_753358186	7 SubmittersRCV000435398 RCV000579563 RCV001125429 RCV001477273 RCV002374637 RCV001125427 RCV001125428
NM_005359.6(SMAD4):c.954T>C (p.Pro318=)	SNV Germline	Chr18:51059915	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Familial pancreatic carcinoma Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA8965958	rs_773615487	6 SubmittersRCV000417972 RCV002429418 RCV001087625 RCV001019481 RCV004000472 RCV005398552
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)	SNV Germline	Chr18:51078300	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA16608768	rs_1057520520	12 SubmittersRCV000427335 RCV000679586 RCV000579788 RCV002318979 RCV001123416 RCV001084748 RCV001123417 RCV001391325
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)	SNV Germline	Chr18:51078440	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Myhre syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8966110	rs_549489716	10 SubmittersRCV000460479 RCV001124520 RCV001284065 RCV000615584 RCV000564724 RCV001420984 RCV001124521 RCV002311780
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val)	SNV Germline	Chr18:51047227	Conflicting classifications of pathogenicity	Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA16620699	rs_1064794204	7 SubmittersRCV000480772 RCV000764160 RCV000581125 RCV000635474 RCV002413323 RCV003235240
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)	SNV Germline	Chr18:51078353	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome not specified Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8966104	rs_760840557	7 SubmittersRCV000530327 RCV000581754 RCV000604219 RCV001123418 RCV001123419 RCV001391329 RCV002314972
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)	SNV Germline	Chr18:51054892	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Carcinoma of pancreas Myhre syndrome not specified Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965830	rs_759288477	8 SubmittersRCV000579689 RCV000764162 RCV002268143 RCV001584257 RCV002319530 RCV002231713 RCV003999046
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SNV Germline	Chr18:51067098	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Carcinoma of pancreas Myhre syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8966026	rs_147621330	10 SubmittersRCV000558005 RCV000562603 RCV000764164 RCV001662542 RCV002311850 RCV003476248
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val)	SNV Germline	Chr18:51065506	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Familial pancreatic carcinoma Juvenile polyposis syndrome Myhre syndrome	Criteria Provided Conflicting Classifications	CA8965978	rs_747360831	8 SubmittersRCV000555938 RCV001017112 RCV002231351 RCV002319529 RCV001764550 RCV004003803 RCV005027632
NM_005359.6(SMAD4):c.298A>C (p.Arg100=)	SNV Germline	Chr18:51048734	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA8965766	rs_751154230	7 SubmittersRCV000568563 RCV001126988 RCV001126989 RCV001126990 RCV001479449 RCV002311908 RCV004701667
NM_005359.6(SMAD4):c.789C>T (p.Asn263=)	SNV Germline	Chr18:51058341	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8965907	rs_763510526	6 SubmittersRCV000571444 RCV000635500 RCV001124421 RCV001124422 RCV001420983 RCV002311920
NM_005359.6(SMAD4):c.1308+2T>C	SNV Germline	Chr18:51067189	Pathogenic	Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter	CA402465089	rs_1555686624	1 SubmittersRCV000662092 RCV000662091 RCV000662093
NM_005359.6(SMAD4):c.*1874C>G	SNV Germline	Chr18:51080341	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided	Criteria Provided Conflicting Classifications	CA300090533	rs_761701805	2 SubmittersRCV001122225 RCV001122226 RCV001122227 RCV002511046
NM_005359.6(SMAD4):c.*6522C>T	SNV Germline	Chr18:51084989	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA300093390	rs_183472455	2 SubmittersRCV001123051 RCV001123052 RCV001123053 RCV002275295
NM_005359.6(SMAD4):c.1447+15C>A	SNV Germline	Chr18:51076791	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA402465423	rs_1910484768	2 SubmittersRCV001123415 RCV001123414 RCV001127539 RCV002558220