Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003036.4(SKI):c.347G>A (p.Gly116Glu)	SNV Germline	Chr1:2229113	Pathogenic/Likely pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Multiple Submitters No Conflicts	CA260605	rs_387907303	4 SubmittersRCV000030816
NM_003036.4(SKI):c.94C>G (p.Leu32Val)	SNV Germline	Chr1:2228860	Pathogenic	Shprintzen-Goldberg syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA260606	rs_387907304	4 SubmittersRCV000030817 RCV001266120
NM_003036.4(SKI):c.101G>A (p.Gly34Asp)	SNV Germline	Chr1:2228867	Pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter	CA260607	rs_387907305	2 SubmittersRCV000030818
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)	SNV Germline	Chr1:2228866	Pathogenic/Likely pathogenic	Shprintzen-Goldberg syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA260608	rs_387907306	7 SubmittersRCV000030819 RCV000200686 RCV000624509
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)	SNV Germline	Chr1:2228866	Pathogenic	Shprintzen-Goldberg syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA260609	rs_387907306	5 SubmittersRCV000030820 RCV000623016 RCV001532045
NM_003036.4(SKI):c.101G>T (p.Gly34Val)	SNV Germline	Chr1:2228867	Pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Multiple Submitters No Conflicts	CA261219	rs_387907305	4 SubmittersRCV000033005
NM_003036.4(SKI):c.104C>A (p.Pro35Gln)	SNV Germline	Chr1:2228870	Likely pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter	CA261222	rs_397514589	2 SubmittersRCV000033007
NM_003036.4(SKI):c.103C>T (p.Pro35Ser)	SNV Germline	Chr1:2228869	Pathogenic	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA261223	rs_397514590	6 SubmittersRCV000033008 RCV004018704
NM_003036.4(SKI):c.798C>T (p.Ala266=)	SNV Germline	Chr1:2229564	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA238762	rs_149642284	10 SubmittersRCV000724502 RCV002310742 RCV000225717 RCV001001466
NM_003036.4(SKI):c.216C>T (p.Pro72=)	SNV Germline	Chr1:2228982	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA238764	rs_756778048	11 SubmittersRCV001086944 RCV000225703 RCV002311028 RCV000724766
NM_003036.4(SKI):c.1890C>T (p.Ala630=)	SNV Germline	Chr1:2306142	Conflicting classifications of pathogenicity	not specified Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA246669	rs_773151547	5 SubmittersRCV000246302 RCV000724348 RCV001441157 RCV002408777
NM_003036.4(SKI):c.539C>T (p.Thr180Met)	SNV Germline	Chr1:2229305	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA323034	rs_863223722	4 SubmittersRCV000198523 RCV001266088 RCV000677641
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)	SNV Germline	Chr1:2229406	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325406	rs_139179843	5 SubmittersRCV000551275 RCV001722084 RCV002363009
NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)	SNV Germline	Chr1:2303078	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320075	rs_200874294	4 SubmittersRCV000542904 RCV001705117 RCV003372648
NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)	SNV Germline	Chr1:2303351	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321796	rs_376736872	4 SubmittersRCV000197343 RCV000638889 RCV004020376
NM_003036.4(SKI):c.1196C>T (p.Ala399Val)	SNV Germline	Chr1:2303385	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA319952	rs_141862996	7 SubmittersRCV000195594 RCV000227742 RCV000514089 RCV002315616
NM_003036.4(SKI):c.1212-8C>T	SNV Germline	Chr1:2303832	Conflicting classifications of pathogenicity	not specified Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323988	rs_370921440	5 SubmittersRCV000199440 RCV000415889 RCV001409838 RCV004017479
NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)	SNV Germline	Chr1:2304346	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome Condition: not provided SKI-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA319823	rs_61735580	5 SubmittersRCV000195482 RCV000638898 RCV003456375 RCV003907725 RCV002399731
NM_003036.4(SKI):c.1556G>A (p.Arg519His)	SNV Germline	Chr1:2304374	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320484	rs_376322470	3 SubmittersRCV000196080 RCV001326178 RCV002399729
NM_003036.4(SKI):c.1573G>A (p.Val525Ile)	SNV Germline	Chr1:2304391	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322059	rs_141961299	4 SubmittersRCV000197599 RCV001857722 RCV002399730
NM_003036.4(SKI):c.1619C>T (p.Ala540Val)	SNV Germline	Chr1:2304437	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324427	rs_764786977	3 SubmittersRCV000199881 RCV000548962 RCV002315617
NM_003036.4(SKI):c.1877A>T (p.Lys626Met)	SNV Germline	Chr1:2306129	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321138	rs_774106502	5 SubmittersRCV000585615 RCV000763830 RCV002315618
NM_003036.4(SKI):c.2141G>A (p.Arg714His)	SNV Germline	Chr1:2306719	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321949	rs_754486257	6 SubmittersRCV000807347 RCV001579938 RCV002426932
NM_003036.4(SKI):c.2153C>G (p.Ala718Gly)	SNV Germline	Chr1:2306731	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA324227	rs_863223721	2 SubmittersRCV000199684 RCV003114354
NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)	SNV Germline	Chr1:2306752	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324320	rs_747798210	3 SubmittersRCV000199766 RCV000537625 RCV002426933
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)	SNV Germline	Chr1:2306761	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320943	rs_372950890	4 SubmittersRCV000196525 RCV000638888 RCV002426934
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)	SNV Germline	Chr1:2303886	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA350063	rs_771862077	4 SubmittersRCV000205977 RCV000507645 RCV001589093 RCV002315636
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)	SNV Germline	Chr1:2229118	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA351850	rs_869025525	2 SubmittersRCV000208203
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)	SNV Germline	Chr1:2303089	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA354889	rs_759663808	3 SubmittersRCV000208423 RCV000701953 RCV002426979
NM_003036.4(SKI):c.62T>G (p.Leu21Arg)	SNV Germline	Chr1:2228828	Pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter	CA354083	rs_869312902	1 SubmittersRCV000210450
NM_003036.4(SKI):c.349G>C (p.Gly117Arg)	SNV Germline	Chr1:2229115	Pathogenic/Likely pathogenic	Shprintzen-Goldberg syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA354088	rs_869312901	2 SubmittersRCV000210472 RCV000498943
NM_003036.4(SKI):c.1456G>A (p.Val486Ile)	SNV Germline	Chr1:2304084	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA536715	rs_200717031	3 SubmittersRCV000218491 RCV000535528 RCV002466469
NM_003036.4(SKI):c.495C>T (p.Gly165=)	SNV Germline	Chr1:2229261	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA536401	rs_749438586	2 SubmittersRCV000250311 RCV001854963
NM_003036.4(SKI):c.1211+17C>T	SNV Germline	Chr1:2303417	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA536617	rs_753878221	4 SubmittersRCV000248676 RCV002519914
NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)	SNV Germline	Chr1:2303937	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA536666	rs_544709718	5 SubmittersRCV000474123 RCV001711845 RCV002310889
NM_003036.4(SKI):c.970-7A>G	SNV Germline	Chr1:2302971	Conflicting classifications of pathogenicity	not specified Condition: not provided Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA536514	rs_199634070	3 SubmittersRCV000284270 RCV000726401 RCV001491331
NM_003036.4(SKI):c.1329C>T (p.Pro443=)	SNV Germline	Chr1:2303957	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome not specified	Criteria Provided Conflicting Classifications	CA536680	rs_150033567	3 SubmittersRCV000429448 RCV001439804 RCV003330672
NM_003036.4(SKI):c.104C>G (p.Pro35Arg)	SNV Germline	Chr1:2228870	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA16609979	rs_397514589	3 SubmittersRCV000475694
NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)	SNV Germline	Chr1:2303394	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA536612	rs_557289756	3 SubmittersRCV000466620 RCV002348322
NM_003036.4(SKI):c.59C>T (p.Thr20Met)	SNV Germline	Chr1:2228825	Pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter	CA16610011	rs_1060502671	1 SubmittersRCV000457554
NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)	SNV Germline	Chr1:2303899	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA536655	rs_764317955	3 SubmittersRCV000486959 RCV000537023 RCV004023198
NM_003036.4(SKI):c.1739C>T (p.Ala580Val)	SNV Germline	Chr1:2304557	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA337957856	rs_1397350089	3 SubmittersRCV000498763 RCV001048400 RCV003159606
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)	SNV Germline	Chr1:2303298	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA536588	rs_138088528	7 SubmittersRCV000522336 RCV001857959
NM_003036.4(SKI):c.1548G>A (p.Pro516=)	SNV Germline	Chr1:2304366	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415774865	rs_1239990628	2 SubmittersRCV000528551 RCV002314976
NM_003036.4(SKI):c.1767+11C>T	SNV Germline	Chr1:2304596	Conflicting classifications of pathogenicity	not specified Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA536782	rs_202132957	2 SubmittersRCV000600470 RCV002528620
NM_003036.4(SKI):c.227T>C (p.Leu76Pro)	SNV Germline	Chr1:2228993	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications	CA536350	rs_753070477	4 SubmittersRCV002315210 RCV002466546 RCV002532812
NM_003036.4(SKI):c.2058C>T (p.Ala686=)	SNV Germline	Chr1:2306636	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA415458776	rs_1171554207	4 SubmittersRCV000768315 RCV001577497 RCV002315197
NM_003036.4(SKI):c.1406C>T (p.Ala469Val)	SNV Germline	Chr1:2304034	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA536701	rs_746659856	2 SubmittersRCV000638882 RCV001556997
NM_003036.4(SKI):c.241C>G (p.Pro81Ala)	SNV Germline	Chr1:2229007	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_778291636	2 SubmittersRCV000707392 RCV004808857
NM_003036.4(SKI):c.986C>T (p.Pro329Leu)	SNV Germline	Chr1:2302994	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications		rs_1407167491	3 SubmittersRCV000687822 RCV004026277 RCV004597857
NM_003036.4(SKI):c.68A>C (p.Gln23Pro)	SNV Germline	Chr1:2228834	Likely pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter		rs_1557806222	1 SubmittersRCV000691689
NM_003036.4(SKI):c.1400C>T (p.Thr467Met)	SNV Germline	Chr1:2304028	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_752151031	3 SubmittersRCV000697378 RCV004822178
NM_003036.4(SKI):c.1187A>G (p.His396Arg)	SNV Germline	Chr1:2303376	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_987527805	2 SubmittersRCV000707073 RCV002334394
NM_003036.4(SKI):c.163G>C (p.Ala55Pro)	SNV Germline	Chr1:2228929	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications		rs_769506718	3 SubmittersRCV001257249 RCV004035374 RCV003770341
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)	SNV Germline	Chr1:2304553	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_370558210	8 SubmittersRCV000768314 RCV001563560 RCV004027214
NM_003036.4(SKI):c.2092C>T (p.Leu698=)	SNV Germline	Chr1:2306670	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_766929334	3 SubmittersRCV000768316 RCV002422649
NM_003036.4(SKI):c.898C>T (p.Leu300Phe)	SNV Germline	Chr1:2229664	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Autism spectrum disorder	Criteria Provided Conflicting Classifications		rs_1569660908	4 SubmittersRCV000803354 RCV001766666 RCV002370130 RCV003127469
NM_003036.4(SKI):c.1034C>T (p.Ala345Val)	SNV Germline	Chr1:2303042	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_201599402	3 SubmittersRCV000812523 RCV001550186 RCV002390644
NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)	SNV Germline	Chr1:2303949	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_201613746	4 SubmittersRCV000801475 RCV001662831 RCV002386426
NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)	SNV Germline	Chr1:2304454	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_774648274	2 SubmittersRCV000817981 RCV003166372
NM_003036.4(SKI):c.91T>C (p.Ser31Pro)	SNV Germline	Chr1:2228857	Pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter		rs_1569656981	1 SubmittersRCV000853353
NM_003036.4(SKI):c.209C>T (p.Pro70Leu)	SNV Germline	Chr1:2228975	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_994969301	2 SubmittersRCV001061711 RCV004030432
NM_003036.4(SKI):c.265C>T (p.Pro89Ser)	SNV Germline	Chr1:2229031	Pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter		rs_1638569809	1 SubmittersRCV001214763
NM_003036.4(SKI):c.1411G>T (p.Val471Leu)	SNV Germline	Chr1:2304039	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_745717087	2 SubmittersRCV001248474 RCV002393663
NM_003036.4(SKI):c.611C>T (p.Ala204Val)	SNV Germline	Chr1:2229377	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_772336192	3 SubmittersRCV001338544 RCV002051937 RCV004035864
NM_003036.4(SKI):c.985C>T (p.Pro329Ser)	SNV Germline	Chr1:2302993	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_770539313	4 SubmittersRCV001338629 RCV001587358 RCV002384452
NM_003036.4(SKI):c.349G>A (p.Gly117Ser)	SNV Germline	Chr1:2229115	Pathogenic/Likely pathogenic	Condition: not provided Shprintzen-Goldberg syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_869312901	3 SubmittersRCV001560598 RCV001882651
NM_003036.4(SKI):c.1711G>A (p.Val571Met)	SNV Germline	Chr1:2304529	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications		rs_190373826	3 SubmittersRCV001590721 RCV002405264 RCV002592503
NM_003036.4(SKI):c.170C>T (p.Ala57Val)	SNV Germline	Chr1:2228936	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_1389185868	3 SubmittersRCV001767074 RCV002544004 RCV003163835
NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)	SNV Germline	Chr1:2303967	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications		rs_1325458157	3 SubmittersRCV001765378 RCV002386527 RCV003631217
NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)	SNV Germline	Chr1:2304472	Conflicting classifications of pathogenicity	Condition: not provided Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_1010245755	3 SubmittersRCV001771169 RCV002544142 RCV003365449
NM_003036.4(SKI):c.581C>A (p.Ala194Asp)	SNV Germline	Chr1:2229347	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_746882046	2 SubmittersRCV001863757 RCV002359290
NM_003036.4(SKI):c.190G>A (p.Val64Met)	SNV Germline	Chr1:2228956	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications		rs_754036418	3 SubmittersRCV001930762 RCV002407080 RCV002269378
NM_003036.4(SKI):c.1767+7G>A	SNV Germline	Chr1:2304592	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome not specified	Criteria Provided Conflicting Classifications		rs_199962561	2 SubmittersRCV002098180 RCV003331292
NM_003036.4(SKI):c.106G>C (p.Ala36Pro)	SNV Germline	Chr1:2228872	Likely pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter		rs_2100789569	1 SubmittersRCV002226984
NM_003036.4(SKI):c.350G>A (p.Gly117Asp)	SNV Germline	Chr1:2229116	Likely pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter		rs_2100790073	2 SubmittersRCV002264876
NM_003036.4(SKI):c.103C>G (p.Pro35Ala)	SNV Germline	Chr1:2228869	Likely pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002288411
NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)	SNV Germline	Chr1:2303065	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002399215 RCV003100807
NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)	SNV Germline	Chr1:2304346	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002400820 RCV003517415
NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)	SNV Germline	Chr1:2306233	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002423692 RCV003097406
NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)	SNV Germline	Chr1:2306165	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002410561 RCV003097346
NM_003036.4(SKI):c.1950C>T (p.Cys650=)	SNV Germline	Chr1:2306202	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Shprintzen-Goldberg syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002421532 RCV003631265
NM_003036.4(SKI):c.82T>A (p.Ser28Thr)	SNV Germline	Chr1:2228848	Pathogenic	Shprintzen-Goldberg syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002648121
NM_003036.4(SKI):c.969+10C>T	SNV Germline	Chr1:2229745	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome not specified	Criteria Provided Conflicting Classifications			3 SubmittersRCV002947466 RCV003324055
NM_003036.4(SKI):c.1325C>T (p.Ala442Val)	SNV Germline	Chr1:2303953	Conflicting classifications of pathogenicity	Shprintzen-Goldberg syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications			2 SubmittersRCV003631279 RCV004101716

NM_003036.4(SKI):c.347G>A (p.Gly116Glu)

SNV
Germline

Chr1:2229113

Pathogenic/Likely pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA260605

rs_387907303

4 SubmittersRCV000030816

NM_003036.4(SKI):c.94C>G (p.Leu32Val)

SNV
Germline

Chr1:2228860

Pathogenic

Shprintzen-Goldberg syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA260606

rs_387907304

4 SubmittersRCV000030817 RCV001266120

NM_003036.4(SKI):c.101G>A (p.Gly34Asp)

SNV
Germline

Chr1:2228867

Pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

CA260607

rs_387907305

2 SubmittersRCV000030818

NM_003036.4(SKI):c.100G>A (p.Gly34Ser)

SNV
Germline

Chr1:2228866

Pathogenic/Likely pathogenic

Shprintzen-Goldberg syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA260608

rs_387907306

7 SubmittersRCV000030819 RCV000200686 RCV000624509

NM_003036.4(SKI):c.100G>T (p.Gly34Cys)

SNV
Germline

Chr1:2228866

Pathogenic

Shprintzen-Goldberg syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA260609

rs_387907306

5 SubmittersRCV000030820 RCV000623016 RCV001532045

NM_003036.4(SKI):c.101G>T (p.Gly34Val)

SNV
Germline

Chr1:2228867

Pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA261219

rs_387907305

4 SubmittersRCV000033005

NM_003036.4(SKI):c.104C>A (p.Pro35Gln)

SNV
Germline

Chr1:2228870

Likely pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

CA261222

rs_397514589

2 SubmittersRCV000033007

NM_003036.4(SKI):c.103C>T (p.Pro35Ser)

SNV
Germline

Chr1:2228869

Pathogenic

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA261223

rs_397514590

6 SubmittersRCV000033008 RCV004018704

NM_003036.4(SKI):c.798C>T (p.Ala266=)

SNV
Germline

Chr1:2229564

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA238762

rs_149642284

10 SubmittersRCV000724502 RCV002310742 RCV000225717 RCV001001466

NM_003036.4(SKI):c.216C>T (p.Pro72=)

SNV
Germline

Chr1:2228982

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA238764

rs_756778048

11 SubmittersRCV001086944 RCV000225703 RCV002311028 RCV000724766

NM_003036.4(SKI):c.1890C>T (p.Ala630=)

SNV
Germline

Chr1:2306142

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA246669

rs_773151547

5 SubmittersRCV000246302 RCV000724348 RCV001441157 RCV002408777

NM_003036.4(SKI):c.539C>T (p.Thr180Met)

SNV
Germline

Chr1:2229305

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA323034

rs_863223722

4 SubmittersRCV000198523 RCV001266088 RCV000677641

NM_003036.4(SKI):c.640A>G (p.Ser214Gly)

SNV
Germline

Chr1:2229406

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325406

rs_139179843

5 SubmittersRCV000551275 RCV001722084 RCV002363009

NM_003036.4(SKI):c.1070G>A (p.Arg357Gln)

SNV
Germline

Chr1:2303078

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320075

rs_200874294

4 SubmittersRCV000542904 RCV001705117 RCV003372648

NM_003036.4(SKI):c.1162G>A (p.Ala388Thr)

SNV
Germline

Chr1:2303351

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321796

rs_376736872

4 SubmittersRCV000197343 RCV000638889 RCV004020376

NM_003036.4(SKI):c.1196C>T (p.Ala399Val)

SNV
Germline

Chr1:2303385

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA319952

rs_141862996

7 SubmittersRCV000195594 RCV000227742 RCV000514089 RCV002315616

NM_003036.4(SKI):c.1212-8C>T

SNV
Germline

Chr1:2303832

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323988

rs_370921440

5 SubmittersRCV000199440 RCV000415889 RCV001409838 RCV004017479

NM_003036.4(SKI):c.1528G>A (p.Ala510Thr)

SNV
Germline

Chr1:2304346

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome
Condition: not provided
SKI-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA319823

rs_61735580

5 SubmittersRCV000195482 RCV000638898 RCV003456375 RCV003907725 RCV002399731

NM_003036.4(SKI):c.1556G>A (p.Arg519His)

SNV
Germline

Chr1:2304374

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320484

rs_376322470

3 SubmittersRCV000196080 RCV001326178 RCV002399729

NM_003036.4(SKI):c.1573G>A (p.Val525Ile)

SNV
Germline

Chr1:2304391

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322059

rs_141961299

4 SubmittersRCV000197599 RCV001857722 RCV002399730

NM_003036.4(SKI):c.1619C>T (p.Ala540Val)

SNV
Germline

Chr1:2304437

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324427

rs_764786977

3 SubmittersRCV000199881 RCV000548962 RCV002315617

NM_003036.4(SKI):c.1877A>T (p.Lys626Met)

SNV
Germline

Chr1:2306129

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321138

rs_774106502

5 SubmittersRCV000585615 RCV000763830 RCV002315618

NM_003036.4(SKI):c.2141G>A (p.Arg714His)

SNV
Germline

Chr1:2306719

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321949

rs_754486257

6 SubmittersRCV000807347 RCV001579938 RCV002426932

NM_003036.4(SKI):c.2153C>G (p.Ala718Gly)

SNV
Germline

Chr1:2306731

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA324227

rs_863223721

2 SubmittersRCV000199684 RCV003114354

NM_003036.4(SKI):c.2174A>C (p.Glu725Ala)

SNV
Germline

Chr1:2306752

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324320

rs_747798210

3 SubmittersRCV000199766 RCV000537625 RCV002426933

NM_003036.4(SKI):c.2183C>T (p.Pro728Leu)

SNV
Germline

Chr1:2306761

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320943

rs_372950890

4 SubmittersRCV000196525 RCV000638888 RCV002426934

NM_003036.4(SKI):c.1258G>A (p.Ala420Thr)

SNV
Germline

Chr1:2303886

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA350063

rs_771862077

4 SubmittersRCV000205977 RCV000507645 RCV001589093 RCV002315636

NM_003036.4(SKI):c.352G>A (p.Glu118Lys)

SNV
Germline

Chr1:2229118

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA351850

rs_869025525

2 SubmittersRCV000208203

NM_003036.4(SKI):c.1081G>A (p.Gly361Ser)

SNV
Germline

Chr1:2303089

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA354889

rs_759663808

3 SubmittersRCV000208423 RCV000701953 RCV002426979

NM_003036.4(SKI):c.62T>G (p.Leu21Arg)

SNV
Germline

Chr1:2228828

Pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

CA354083

rs_869312902

1 SubmittersRCV000210450

NM_003036.4(SKI):c.349G>C (p.Gly117Arg)

SNV
Germline

Chr1:2229115

Pathogenic/Likely pathogenic

Shprintzen-Goldberg syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA354088

rs_869312901

2 SubmittersRCV000210472 RCV000498943

NM_003036.4(SKI):c.1456G>A (p.Val486Ile)

SNV
Germline

Chr1:2304084

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA536715

rs_200717031

3 SubmittersRCV000218491 RCV000535528 RCV002466469

NM_003036.4(SKI):c.495C>T (p.Gly165=)

SNV
Germline

Chr1:2229261

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA536401

rs_749438586

2 SubmittersRCV000250311 RCV001854963

NM_003036.4(SKI):c.1211+17C>T

SNV
Germline

Chr1:2303417

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA536617

rs_753878221

4 SubmittersRCV000248676 RCV002519914

NM_003036.4(SKI):c.1309G>A (p.Ala437Thr)

SNV
Germline

Chr1:2303937

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA536666

rs_544709718

5 SubmittersRCV000474123 RCV001711845 RCV002310889

NM_003036.4(SKI):c.970-7A>G

SNV
Germline

Chr1:2302971

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA536514

rs_199634070

3 SubmittersRCV000284270 RCV000726401 RCV001491331

NM_003036.4(SKI):c.1329C>T (p.Pro443=)

SNV
Germline

Chr1:2303957

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
not specified

Criteria Provided
Conflicting Classifications

CA536680

rs_150033567

3 SubmittersRCV000429448 RCV001439804 RCV003330672

NM_003036.4(SKI):c.104C>G (p.Pro35Arg)

SNV
Germline

Chr1:2228870

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA16609979

rs_397514589

3 SubmittersRCV000475694

NM_003036.4(SKI):c.1205G>A (p.Arg402Gln)

SNV
Germline

Chr1:2303394

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA536612

rs_557289756

3 SubmittersRCV000466620 RCV002348322

NM_003036.4(SKI):c.59C>T (p.Thr20Met)

SNV
Germline

Chr1:2228825

Pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

CA16610011

rs_1060502671

1 SubmittersRCV000457554

NM_003036.4(SKI):c.1271C>T (p.Pro424Leu)

SNV
Germline

Chr1:2303899

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA536655

rs_764317955

3 SubmittersRCV000486959 RCV000537023 RCV004023198

NM_003036.4(SKI):c.1739C>T (p.Ala580Val)

SNV
Germline

Chr1:2304557

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA337957856

rs_1397350089

3 SubmittersRCV000498763 RCV001048400 RCV003159606

NM_003036.4(SKI):c.1109T>C (p.Val370Ala)

SNV
Germline

Chr1:2303298

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA536588

rs_138088528

7 SubmittersRCV000522336 RCV001857959

NM_003036.4(SKI):c.1548G>A (p.Pro516=)

SNV
Germline

Chr1:2304366

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415774865

rs_1239990628

2 SubmittersRCV000528551 RCV002314976

NM_003036.4(SKI):c.1767+11C>T

SNV
Germline

Chr1:2304596

Conflicting classifications of pathogenicity

not specified
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA536782

rs_202132957

2 SubmittersRCV000600470 RCV002528620

NM_003036.4(SKI):c.227T>C (p.Leu76Pro)

SNV
Germline

Chr1:2228993

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

CA536350

rs_753070477

4 SubmittersRCV002315210 RCV002466546 RCV002532812

NM_003036.4(SKI):c.2058C>T (p.Ala686=)

SNV
Germline

Chr1:2306636

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA415458776

rs_1171554207

4 SubmittersRCV000768315 RCV001577497 RCV002315197

NM_003036.4(SKI):c.1406C>T (p.Ala469Val)

SNV
Germline

Chr1:2304034

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA536701

rs_746659856

2 SubmittersRCV000638882 RCV001556997

NM_003036.4(SKI):c.241C>G (p.Pro81Ala)

SNV
Germline

Chr1:2229007

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778291636

2 SubmittersRCV000707392 RCV004808857

NM_003036.4(SKI):c.986C>T (p.Pro329Leu)

SNV
Germline

Chr1:2302994

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1407167491

3 SubmittersRCV000687822 RCV004026277 RCV004597857

NM_003036.4(SKI):c.68A>C (p.Gln23Pro)

SNV
Germline

Chr1:2228834

Likely pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

rs_1557806222

1 SubmittersRCV000691689

NM_003036.4(SKI):c.1400C>T (p.Thr467Met)

SNV
Germline

Chr1:2304028

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_752151031

3 SubmittersRCV000697378 RCV004822178

NM_003036.4(SKI):c.1187A>G (p.His396Arg)

SNV
Germline

Chr1:2303376

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_987527805

2 SubmittersRCV000707073 RCV002334394

NM_003036.4(SKI):c.163G>C (p.Ala55Pro)

SNV
Germline

Chr1:2228929

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

rs_769506718

3 SubmittersRCV001257249 RCV004035374 RCV003770341

NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)

SNV
Germline

Chr1:2304553

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_370558210

8 SubmittersRCV000768314 RCV001563560 RCV004027214

NM_003036.4(SKI):c.2092C>T (p.Leu698=)

SNV
Germline

Chr1:2306670

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_766929334

3 SubmittersRCV000768316 RCV002422649

NM_003036.4(SKI):c.898C>T (p.Leu300Phe)

SNV
Germline

Chr1:2229664

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Autism spectrum disorder

Criteria Provided
Conflicting Classifications

rs_1569660908

4 SubmittersRCV000803354 RCV001766666 RCV002370130 RCV003127469

NM_003036.4(SKI):c.1034C>T (p.Ala345Val)

SNV
Germline

Chr1:2303042

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_201599402

3 SubmittersRCV000812523 RCV001550186 RCV002390644

NM_003036.4(SKI):c.1321C>T (p.Arg441Trp)

SNV
Germline

Chr1:2303949

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_201613746

4 SubmittersRCV000801475 RCV001662831 RCV002386426

NM_003036.4(SKI):c.1636C>T (p.Arg546Trp)

SNV
Germline

Chr1:2304454

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_774648274

2 SubmittersRCV000817981 RCV003166372

NM_003036.4(SKI):c.91T>C (p.Ser31Pro)

SNV
Germline

Chr1:2228857

Pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

rs_1569656981

1 SubmittersRCV000853353

NM_003036.4(SKI):c.209C>T (p.Pro70Leu)

SNV
Germline

Chr1:2228975

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_994969301

2 SubmittersRCV001061711 RCV004030432

NM_003036.4(SKI):c.265C>T (p.Pro89Ser)

SNV
Germline

Chr1:2229031

Pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

rs_1638569809

1 SubmittersRCV001214763

NM_003036.4(SKI):c.1411G>T (p.Val471Leu)

SNV
Germline

Chr1:2304039

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_745717087

2 SubmittersRCV001248474 RCV002393663

NM_003036.4(SKI):c.611C>T (p.Ala204Val)

SNV
Germline

Chr1:2229377

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_772336192

3 SubmittersRCV001338544 RCV002051937 RCV004035864

NM_003036.4(SKI):c.985C>T (p.Pro329Ser)

SNV
Germline

Chr1:2302993

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_770539313

4 SubmittersRCV001338629 RCV001587358 RCV002384452

NM_003036.4(SKI):c.349G>A (p.Gly117Ser)

SNV
Germline

Chr1:2229115

Pathogenic/Likely pathogenic

Condition: not provided
Shprintzen-Goldberg syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_869312901

3 SubmittersRCV001560598 RCV001882651

NM_003036.4(SKI):c.1711G>A (p.Val571Met)

SNV
Germline

Chr1:2304529

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

rs_190373826

3 SubmittersRCV001590721 RCV002405264 RCV002592503

NM_003036.4(SKI):c.170C>T (p.Ala57Val)

SNV
Germline

Chr1:2228936

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1389185868

3 SubmittersRCV001767074 RCV002544004 RCV003163835

NM_003036.4(SKI):c.1339G>A (p.Ala447Thr)

SNV
Germline

Chr1:2303967

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

rs_1325458157

3 SubmittersRCV001765378 RCV002386527 RCV003631217

NM_003036.4(SKI):c.1654G>A (p.Gly552Ser)

SNV
Germline

Chr1:2304472

Conflicting classifications of pathogenicity

Condition: not provided
Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_1010245755

3 SubmittersRCV001771169 RCV002544142 RCV003365449

NM_003036.4(SKI):c.581C>A (p.Ala194Asp)

SNV
Germline

Chr1:2229347

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_746882046

2 SubmittersRCV001863757 RCV002359290

NM_003036.4(SKI):c.190G>A (p.Val64Met)

SNV
Germline

Chr1:2228956

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754036418

3 SubmittersRCV001930762 RCV002407080 RCV002269378

NM_003036.4(SKI):c.1767+7G>A

SNV
Germline

Chr1:2304592

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_199962561

2 SubmittersRCV002098180 RCV003331292

NM_003036.4(SKI):c.106G>C (p.Ala36Pro)

SNV
Germline

Chr1:2228872

Likely pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

rs_2100789569

1 SubmittersRCV002226984

NM_003036.4(SKI):c.350G>A (p.Gly117Asp)

SNV
Germline

Chr1:2229116

Likely pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

rs_2100790073

2 SubmittersRCV002264876

NM_003036.4(SKI):c.103C>G (p.Pro35Ala)

SNV
Germline

Chr1:2228869

Likely pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002288411

NM_003036.4(SKI):c.1057T>C (p.Ser353Pro)

SNV
Germline

Chr1:2303065

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002399215 RCV003100807

NM_003036.4(SKI):c.1528G>T (p.Ala510Ser)

SNV
Germline

Chr1:2304346

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002400820 RCV003517415

NM_003036.4(SKI):c.1981G>A (p.Ala661Thr)

SNV
Germline

Chr1:2306233

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002423692 RCV003097406

NM_003036.4(SKI):c.1913A>G (p.Lys638Arg)

SNV
Germline

Chr1:2306165

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002410561 RCV003097346

NM_003036.4(SKI):c.1950C>T (p.Cys650=)

SNV
Germline

Chr1:2306202

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Shprintzen-Goldberg syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002421532 RCV003631265

NM_003036.4(SKI):c.82T>A (p.Ser28Thr)

SNV
Germline

Chr1:2228848

Pathogenic

Shprintzen-Goldberg syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002648121

NM_003036.4(SKI):c.969+10C>T

SNV
Germline

Chr1:2229745

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002947466 RCV003324055

NM_003036.4(SKI):c.1325C>T (p.Ala442Val)

SNV
Germline

Chr1:2303953

Conflicting classifications of pathogenicity

Shprintzen-Goldberg syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003631279 RCV004101716