Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)	SNV Germline	Chr5:128335544	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA281512	rs_137852825	2 SubmittersRCV000000548
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)	SNV Germline	Chr5:128395182	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA281513	rs_137852826	1 SubmittersRCV000000549
NM_001999.4(FBN2):c.4346-2A>T	SNV Germline	Chr5:128328823	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA281514	rs_587776518	2 SubmittersRCV000000551
NM_001999.4(FBN2):c.3725-15A>G	SNV Germline	Chr5:128335592	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA281515	rs_587776519	2 SubmittersRCV000000552
NM_001999.4(FBN2):c.3974-26T>G	SNV Germline	Chr5:128334870	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA2573052418	rs_2126895611	1 SubmittersRCV000000553
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)	SNV Germline	Chr5:128344385	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA281516	rs_137852827	1 SubmittersRCV000000554
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)	SNV Germline	Chr5:128338980	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA281517	rs_137852828	1 SubmittersRCV000000555
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)	SNV Germline	Chr5:128335543	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA281518	rs_28931602	1 SubmittersRCV000000556
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)	SNV Germline	Chr5:128335525	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA281519	rs_267606802	1 SubmittersRCV000000557
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)	SNV Germline	Chr5:128369269	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided FBN2-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA288814	rs_149733159	6 SubmittersRCV000117018 RCV000537654 RCV000766968 RCV004745192 RCV005338081
NM_001999.4(FBN2):c.1850-9C>T	SNV Germline	Chr5:128376862	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA290860	rs_199937209	8 SubmittersRCV000125035 RCV000356256 RCV001705910 RCV000659599
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)	SNV Germline	Chr5:128364601	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Connective tissue disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA232481	rs_139686090	14 SubmittersRCV000225712 RCV000232742 RCV000659604 RCV000724447 RCV002310691 RCV002277247
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)	SNV Germline	Chr5:128361769	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Ehlers-Danlos syndrome FBN2-related disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA290861	rs_372872626	7 SubmittersRCV000125037 RCV000308379 RCV002277248 RCV004724823 RCV005425736 RCV002310692
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)	SNV Germline	Chr5:128345529	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA290864	rs_371640952	5 SubmittersRCV000125043 RCV000726689 RCV002055536 RCV002444586
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)	SNV Germline	Chr5:128305875	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Connective tissue disorder not specified Condition: not provided Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA211147	rs_35346129	15 SubmittersRCV000229763 RCV000659627 RCV000178522 RCV001795235 RCV002277260 RCV002310701
NM_001999.4(FBN2):c.6511+5G>A	SNV Germline	Chr5:128289877	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Condition: not provided Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA303025	rs_200608284	13 SubmittersRCV000179087 RCV000768219 RCV000363479 RCV000589750 RCV002277263 RCV002310702 RCV002277262
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)	SNV Germline	Chr5:128277971	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA290892	rs_147102633	12 SubmittersRCV000125077 RCV000274543 RCV002311016 RCV000726425 RCV002277264
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)	SNV Germline	Chr5:128527886	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection not specified Congenital contractural arachnodactyly Connective tissue disorder Condition: not provided Ehlers-Danlos syndrome FBN2-related disorder	Criteria Provided Conflicting Classifications	CA245202	rs_147157552	15 SubmittersRCV000143896 RCV000199324 RCV000229340 RCV000659593 RCV000724479 RCV002277283 RCV003935229
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)	SNV Germline	Chr5:128273872	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly Condition: not provided Macular degeneration, early-onset Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA345813	rs_374507398	10 SubmittersRCV000143897 RCV000534366 RCV001311668 RCV002055857 RCV005417973
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)	SNV Germline	Chr5:128338975	Conflicting classifications of pathogenicity	Macular degeneration, early-onset Congenital contractural arachnodactyly Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA174026	rs_200060005	6 SubmittersRCV000148948 RCV000468154 RCV000680529 RCV002311021 RCV003313043
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)	SNV Germline	Chr5:128537494	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA238729	rs_201255083	9 SubmittersRCV000197074 RCV000389183 RCV000724116 RCV002310741
NM_001999.4(FBN2):c.1365G>T (p.Gly455=)	SNV Germline	Chr5:128393235	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA239208	rs_794726987	4 SubmittersRCV000173752 RCV000464412 RCV004821991
NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr)	SNV Germline	Chr5:128332983	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA244152	rs_794727560	3 SubmittersRCV000177645 RCV000659618
NM_001999.4(FBN2):c.4100-9G>T	SNV Germline	Chr5:128333043	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA244153	rs_377002313	5 SubmittersRCV000242150 RCV001513936 RCV000724621
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)	SNV Germline	Chr5:128261853	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified Condition: not provided Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA211158	rs_116413101	8 SubmittersRCV000228293 RCV000194876 RCV001812183 RCV002277456 RCV002310754
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)	SNV Germline	Chr5:128278775	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder	Criteria Provided Conflicting Classifications	CA319691	rs_148014419	5 SubmittersRCV000192472 RCV000532448 RCV001721252 RCV002314816 RCV004745261
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)	SNV Germline	Chr5:128289213	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA319708	rs_149071226	7 SubmittersRCV000193392 RCV000395130 RCV001721251 RCV002314815
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)	SNV Germline	Chr5:128332993	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Connective tissue disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA319740	rs_78727187	15 SubmittersRCV000195111 RCV000331925 RCV000659617 RCV001573307 RCV002310752 RCV002277454
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)	SNV Germline	Chr5:128336022	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA207753	rs_774807410	4 SubmittersRCV000193937 RCV000526581 RCV001711495 RCV002345691
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp)	SNV Germline	Chr5:128537446	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA206333	rs_375093230	2 SubmittersRCV000193087 RCV001852556
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)	SNV Germline	Chr5:128259493	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322116	rs_781069799	3 SubmittersRCV000197656 RCV001241938 RCV002372170
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)	SNV Germline	Chr5:128259516	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA323303	rs_863223615	3 SubmittersRCV000198778 RCV000796322
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)	SNV Germline	Chr5:128259520	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Macular degeneration, early-onset	Criteria Provided Conflicting Classifications	CA319796	rs_557212203	5 SubmittersRCV000541423 RCV001705106 RCV002372169 RCV004700586
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)	SNV Germline	Chr5:128259550	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325081	rs_765693576	3 SubmittersRCV000200499 RCV000226426 RCV002372171
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)	SNV Germline	Chr5:128259664	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324734	rs_147134796	5 SubmittersRCV000796581 RCV001786339 RCV002277515 RCV005562319
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)	SNV Germline	Chr5:128259696	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA321628	rs_753753954	3 SubmittersRCV000197185 RCV002311056 RCV002515360
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)	SNV Germline	Chr5:128261818	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Connective tissue disorder Condition: not provided See cases Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA322766	rs_201962592	11 SubmittersRCV000347766 RCV002277531 RCV000755536 RCV002252049 RCV002315587 RCV004586615
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)	SNV Germline	Chr5:128261861	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320216	rs_145353444	6 SubmittersRCV000195837 RCV000284862 RCV002500602 RCV002277513 RCV002310776
NM_001999.4(FBN2):c.8193-7C>G	SNV Germline	Chr5:128261914	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA325257	rs_754837805	2 SubmittersRCV000200672 RCV001233264
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)	SNV Germline	Chr5:128263531	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321180	rs_373994051	6 SubmittersRCV000469973 RCV000196760 RCV003401069 RCV002408866
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)	SNV Germline	Chr5:128263535	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Ehlers-Danlos syndrome not specified FBN2-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323605	rs_142755118	13 SubmittersRCV000659022 RCV000228951 RCV002277512 RCV003330563 RCV003927824 RCV002310775
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys)	SNV Germline	Chr5:128272017	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Congenital contractural arachnodactyly Macular degeneration, early-onset Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320496	rs_375316758	4 SubmittersRCV000196087 RCV000810864 RCV005042418 RCV005572283
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)	SNV Germline	Chr5:128272073	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324578	rs_768750542	4 SubmittersRCV000487517 RCV001059950 RCV004020360
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)	SNV Germline	Chr5:128274588	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly FBN2-related disorder Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA323011	rs_373970388	7 SubmittersRCV000198498 RCV002277529 RCV002277530 RCV002399726 RCV001088783 RCV003947620 RCV005396582
NM_001999.4(FBN2):c.7471+6G>A	SNV Germline	Chr5:128277874	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323567	rs_200998513	10 SubmittersRCV000199023 RCV000460061 RCV001579980 RCV004017478
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)	SNV Germline	Chr5:128277946	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA321235	rs_863223546	3 SubmittersRCV000196818 RCV000537713
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser)	SNV Germline	Chr5:128277951	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320191	rs_562508529	3 SubmittersRCV000195816 RCV002517178 RCV004822011
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile)	SNV Germline	Chr5:128278649	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA320225	rs_201883128	2 SubmittersRCV000195847 RCV001853147
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys)	SNV Germline	Chr5:128280245	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided FBN2-related disorder	Criteria Provided Conflicting Classifications	CA321309	rs_771718967	3 SubmittersRCV001298201 RCV000196890 RCV004745265
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys)	SNV Germline	Chr5:128280273	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA320450	rs_863223586	2 SubmittersRCV000196051 RCV003640873
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)	SNV Germline	Chr5:128286784	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Craniosynostosis syndrome Ehlers-Danlos syndrome Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322305	rs_201220519	11 SubmittersRCV000197843 RCV000469864 RCV000487809 RCV000581293 RCV002277536 RCV002277537 RCV002310791
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)	SNV Germline	Chr5:128286820	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324911	rs_368802769	5 SubmittersRCV000200348 RCV000342918 RCV002315586
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)	SNV Germline	Chr5:128288476	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA324120	rs_863223612	3 SubmittersRCV000199574 RCV000633581
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)	SNV Germline	Chr5:128288514	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA321576	rs_145681607	4 SubmittersRCV000197133 RCV002310789 RCV002515359 RCV003230446
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser)	SNV Germline	Chr5:128288537	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA322770	rs_863223582	2 SubmittersRCV000198259 RCV003525876
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)	SNV Germline	Chr5:128289166	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly FBN2-related disorder	Criteria Provided Conflicting Classifications	CA322515	rs_766808076	3 SubmittersRCV000198041 RCV000471326 RCV003401068
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp)	SNV Germline	Chr5:128289225	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321136	rs_537628586	3 SubmittersRCV000196714 RCV002517177 RCV004020359
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)	SNV Germline	Chr5:128290843	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323445	rs_141707850	3 SubmittersRCV000474999 RCV000198915 RCV002363008
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)	SNV Germline	Chr5:128300910	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA320255	rs_772994944	4 SubmittersRCV000195870 RCV002354549 RCV001493386
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)	SNV Germline	Chr5:128301462	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322179	rs_189964478	3 SubmittersRCV000197720 RCV001053741 RCV002354544
NM_001999.4(FBN2):c.5800+5G>A	SNV Germline	Chr5:128304952	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections Familial thoracic aortic aneurysm and aortic dissection Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA322014	rs_375487064	7 SubmittersRCV000197552 RCV000528713 RCV000766976 RCV005237693 RCV002354548 RCV002500604
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)	SNV Germline	Chr5:128305924	Conflicting classifications of pathogenicity	Condition: not provided not specified Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325435	rs_149537608	5 SubmittersRCV000200857 RCV001001181 RCV000352887 RCV004822013
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)	SNV Germline	Chr5:128309297	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA319964	rs_779202876	5 SubmittersRCV000195602 RCV000233352 RCV002345705
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)	SNV Germline	Chr5:128309325	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA323357	rs_201113098	4 SubmittersRCV000198829 RCV000463573 RCV002315585 RCV003987442
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala)	SNV Germline	Chr5:128312646	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321369	rs_139830237	3 SubmittersRCV000196944 RCV000819761 RCV004822012
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)	SNV Germline	Chr5:128312712	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323659	rs_762108847	4 SubmittersRCV000199119 RCV000302604 RCV005438359
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)	SNV Germline	Chr5:128312756	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA321323	rs_143195229	3 SubmittersRCV000196903 RCV000249340 RCV001853146
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)	SNV Germline	Chr5:128318224	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder	Criteria Provided Conflicting Classifications	CA323806	rs_140313460	6 SubmittersRCV000199274 RCV000863851 RCV002315584 RCV002277528
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)	SNV Germline	Chr5:128328713	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Connective tissue disorder Condition: not provided not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323073	rs_199665922	7 SubmittersRCV000261737 RCV000659620 RCV001721272 RCV003488450 RCV002310787
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)	SNV Germline	Chr5:128328749	Conflicting classifications of pathogenicity	Condition: not provided not specified Congenital contractural arachnodactyly Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320757	rs_140812463	5 SubmittersRCV000196344 RCV001002171 RCV000466570 RCV002277527 RCV004822010
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)	SNV Germline	Chr5:128330672	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA320889	rs_200837433	6 SubmittersRCV000196474 RCV000465479 RCV002315592 RCV003430751 RCV002277535
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val)	SNV Germline	Chr5:128334809	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324230	rs_776567929	3 SubmittersRCV000199686 RCV001307203 RCV005338103
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)	SNV Germline	Chr5:128335260	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324462	rs_759131544	4 SubmittersRCV000465682 RCV000199913 RCV000680528 RCV004619225
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)	SNV Germline	Chr5:128335463	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Connective tissue disorder	Criteria Provided Conflicting Classifications	CA324510	rs_200481467	6 SubmittersRCV000472155 RCV000513271 RCV002315591 RCV002277534
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)	SNV Germline	Chr5:128335497	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322231	rs_765649978	5 SubmittersRCV000531948 RCV000197758 RCV002363007
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys)	SNV Germline	Chr5:128335509	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321025	rs_776031352	3 SubmittersRCV000196600 RCV000814432 RCV004020358
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)	SNV Germline	Chr5:128336002	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly not specified FBN2-related disorder	Criteria Provided Conflicting Classifications	CA322240	rs_142185964	5 SubmittersRCV000726254 RCV001078545 RCV003323443 RCV003955183
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)	SNV Germline	Chr5:128336003	Conflicting classifications of pathogenicity	Condition: not provided Macular degeneration, early-onset Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA319912	rs_746570981	4 SubmittersRCV000488072 RCV001195960 RCV002354546 RCV001857717
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met)	SNV Germline	Chr5:128336011	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly FBN2-related disorder	Criteria Provided Conflicting Classifications	CA324005	rs_368105987	3 SubmittersRCV000199463 RCV002515358 RCV003390934
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)	SNV Germline	Chr5:128338002	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA321818	rs_863223567	3 SubmittersRCV000197367 RCV002336530 RCV003525874
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)	SNV Germline	Chr5:128338949	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA325155	rs_863223565	2 SubmittersRCV000200568 RCV002517176
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly)	SNV Germline	Chr5:128338963	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA322825	rs_764809572	3 SubmittersRCV000198329 RCV001265725 RCV001318629
NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile)	SNV Germline	Chr5:128339004	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA319945	rs_863223602	2 SubmittersRCV000195591 RCV002515361
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)	SNV Germline	Chr5:128339011	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Connective tissue disorder Macular degeneration, early-onset Congenital contractural arachnodactyly not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320787	rs_138834515	9 SubmittersRCV000310235 RCV000513490 RCV000659611 RCV000768222 RCV004767139 RCV002310771
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)	SNV Germline	Chr5:128344432	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly not specified Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323174	rs_202050092	8 SubmittersRCV000198639 RCV000364863 RCV003330566 RCV002277524 RCV002310786
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro)	SNV Germline	Chr5:128344475	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA324185	rs_863223562	2 SubmittersRCV000199641 RCV000543229
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)	SNV Germline	Chr5:128345365	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA320977	rs_139118782	3 SubmittersRCV000196552 RCV002515357
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)	SNV Germline	Chr5:128345425	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Connective tissue disorder	Criteria Provided Conflicting Classifications	CA324330	rs_150506063	3 SubmittersRCV000199772 RCV003640871 RCV002277523
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln)	SNV Germline	Chr5:128345429	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA322010	rs_771853346	2 SubmittersRCV000197546 RCV001853145
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys)	SNV Germline	Chr5:128345468	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA321770	rs_773473369	3 SubmittersRCV000197316 RCV003525879
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)	SNV Germline	Chr5:128345513	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Congenital contractural arachnodactyly Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA323583	rs_541842635	7 SubmittersRCV000199048 RCV000659609 RCV001154223 RCV002277522 RCV002444792 RCV005055704
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)	SNV Germline	Chr5:128345561	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322319	rs_147633551	7 SubmittersRCV000197856 RCV000727149 RCV001080372 RCV002315579
NM_001999.4(FBN2):c.2990-14C>T	SNV Germline	Chr5:128345598	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA320774	rs_377500777	3 SubmittersRCV000196355 RCV000281793
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)	SNV Germline	Chr5:128350879	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection not specified FBN2-related disorder	Criteria Provided Conflicting Classifications	CA321404	rs_376194507	10 SubmittersRCV001721271 RCV000659608 RCV000705520 RCV002433877 RCV005237692 RCV003407699
NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg)	SNV Germline	Chr5:128350961	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA323568	rs_863223599	2 SubmittersRCV000199025 RCV001853149
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)	SNV Germline	Chr5:128351001	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA321566	rs_778473524	4 SubmittersRCV000197124 RCV002515356 RCV003319186
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)	SNV Germline	Chr5:128357299	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322791	rs_139035999	3 SubmittersRCV000198286 RCV001316692 RCV003243015
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)	SNV Germline	Chr5:128357325	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA324088	rs_371502563	8 SubmittersRCV000283683 RCV000199548 RCV002315578 RCV001706174 RCV002277504
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)	SNV Germline	Chr5:128361741	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Congenital contractural arachnodactyly Macular degeneration, early-onset Familial thoracic aortic aneurysm and aortic dissection Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA321237	rs_375666281	7 SubmittersRCV000405761 RCV001281014 RCV002315590 RCV001778783 RCV005431545
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)	SNV Germline	Chr5:128361797	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321897	rs_150735582	4 SubmittersRCV000197430 RCV000206321 RCV005237691 RCV002310785
NM_001999.4(FBN2):c.2108G>A (p.Arg703His)	SNV Germline	Chr5:128369322	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA325354	rs_567790419	3 SubmittersRCV000200771 RCV001296985 RCV003165447
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)	SNV Germline	Chr5:128369331	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly FBN2-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324674	rs_773667668	7 SubmittersRCV000200116 RCV001151277 RCV003401065 RCV002415837
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)	SNV Germline	Chr5:128376818	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA322315	rs_863223554	3 SubmittersRCV001207170 RCV000197851 RCV002310782
NM_001999.4(FBN2):c.1841A>T (p.Asn614Ile)	SNV Germline	Chr5:128377760	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA319996	rs_770876270	2 SubmittersRCV000195634 RCV005089998
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu)	SNV Germline	Chr5:128378850	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA320126	rs_182651973	4 SubmittersRCV000195754 RCV000633592 RCV004822007
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)	SNV Germline	Chr5:128392078	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323681	rs_528255772	5 SubmittersRCV000199141 RCV001086834 RCV002277520 RCV004619224
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)	SNV Germline	Chr5:128392095	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA321340	rs_199587570	4 SubmittersRCV000196921 RCV001729450 RCV002311054
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)	SNV Germline	Chr5:128393165	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323822	rs_147346327	5 SubmittersRCV000199291 RCV000286121 RCV000766966 RCV002311053
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)	SNV Germline	Chr5:128393177	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA320612	rs_200440156	2 SubmittersRCV000196187 RCV001857718
NM_001999.4(FBN2):c.809G>A (p.Arg270His)	SNV Germline	Chr5:128464741	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324848	rs_148971572	5 SubmittersRCV000200299 RCV001088333 RCV001818465 RCV003298254
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)	SNV Germline	Chr5:128464763	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly FBN2-related disorder	Criteria Provided Conflicting Classifications	CA320328	rs_151329128	4 SubmittersRCV000195945 RCV002315589 RCV001853148 RCV004745266
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)	SNV Germline	Chr5:128464817	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA323712	rs_146941428	2 SubmittersRCV000199182 RCV000459579
NM_001999.4(FBN2):c.377G>A (p.Arg126His)	SNV Germline	Chr5:128530654	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA321481	rs_528614556	5 SubmittersRCV000197044 RCV001473209 RCV002277538 RCV004822014 RCV003323445
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)	SNV Germline	Chr5:128537387	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323258	rs_148493036	3 SubmittersRCV000198722 RCV001484140 RCV002310781
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)	SNV Germline	Chr5:128537402	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA320907	rs_767317022	4 SubmittersRCV000196494 RCV004020357 RCV001853141
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)	SNV Germline	Chr5:128537447	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection not specified Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA324262	rs_146807421	6 SubmittersRCV000199714 RCV000555367 RCV002399724 RCV003330565 RCV002277519
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)	SNV Germline	Chr5:128537479	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA324396	rs_773011327	3 SubmittersRCV000199848 RCV000541110 RCV004822006
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)	SNV Germline	Chr5:128537528	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome FBN2-related disorder not specified	Criteria Provided Conflicting Classifications	CA322091	rs_374922166	8 SubmittersRCV000726832 RCV001083543 RCV002310779 RCV002277517 RCV003937723 RCV005406930
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)	SNV Germline	Chr5:128537536	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided FBN2-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA323989	rs_199560824	5 SubmittersRCV000294775 RCV001721270 RCV003417706 RCV002310770
NM_001999.4(FBN2):c.5917+9T>G	SNV Germline	Chr5:128302964	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified Condition: not provided FBN2-related disorder	Criteria Provided Conflicting Classifications	CA350049	rs_371439173	5 SubmittersRCV000205963 RCV000612271 RCV001812209 RCV003927877
NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val)	SNV Germline	Chr5:128339061	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA351839	rs_869025428	1 SubmittersRCV000208190
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)	SNV Germline	Chr5:128376742	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA077357	rs_780589159	4 SubmittersRCV000208169 RCV000420315 RCV000560706
NM_001999.4(FBN2):c.1849+8A>G	SNV Germline	Chr5:128377744	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA078000	rs_747219934	2 SubmittersRCV000208212 RCV002054352
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met)	SNV Germline	Chr5:128287355	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA358193	rs_2307109	3 SubmittersRCV000210681 RCV000489643 RCV001439397
NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter)	SNV Germline	Chr5:128274648	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360753408	rs_1085307066	1 SubmittersRCV000490469
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)	SNV Germline	Chr5:128263559	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393943	rs_150734807	4 SubmittersRCV000221212 RCV000824483 RCV002417979 RCV005396736
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)	SNV Germline	Chr5:128344424	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395273	rs_761012607	4 SubmittersRCV000222225 RCV000701531 RCV002503876 RCV002450648
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)	SNV Germline	Chr5:128339054	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395253	rs_78484531	6 SubmittersRCV000369172 RCV000726061 RCV001087913 RCV002310821
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu)	SNV Germline	Chr5:128530627	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3396126	rs_778566871	2 SubmittersRCV000226112 RCV001753694
NM_001999.4(FBN2):c.6512-3T>C	SNV Germline	Chr5:128289255	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394381	rs_764271022	3 SubmittersRCV000242475 RCV001589253 RCV002518618
NM_001999.4(FBN2):c.2363G>A (p.Arg788His)	SNV Germline	Chr5:128364665	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3395570	rs_368116715	5 SubmittersRCV000247140 RCV000800520 RCV002446486 RCV003318568
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)	SNV Germline	Chr5:128259681	Conflicting classifications of pathogenicity	Cardiovascular phenotype Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA3393796	rs_772928933	3 SubmittersRCV000251288 RCV002518998 RCV004689695
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)	SNV Germline	Chr5:128263582	Conflicting classifications of pathogenicity	Cardiovascular phenotype Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA10587595	rs_763870762	2 SubmittersRCV000252393 RCV001857853
NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser)	SNV Germline	Chr5:128272080	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3393986	rs_369568420	3 SubmittersRCV002311140 RCV005090289 RCV005411391
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)	SNV Germline	Chr5:128277933	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly Macular degeneration, early-onset	Criteria Provided Conflicting Classifications	CA3394128	rs_28763925	3 SubmittersRCV000475730 RCV002310888 RCV005031836
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)	SNV Germline	Chr5:128278768	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394178	rs_368506842	3 SubmittersRCV001152624 RCV002310846
NM_001999.4(FBN2):c.6638-2A>C	SNV Germline	Chr5:128288559	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA10587601	rs_886039200	2 SubmittersRCV002311226 RCV005090293
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)	SNV Germline	Chr5:128286741	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA10587602	rs_886038992	2 SubmittersRCV002310933 RCV001859454
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)	SNV Germline	Chr5:128300906	Conflicting classifications of pathogenicity	Cardiovascular phenotype Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394502	rs_139668142	5 SubmittersRCV000244909 RCV000765798 RCV000685075 RCV001589297
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile)	SNV Germline	Chr5:128328765	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394971	rs_199668238	2 SubmittersRCV002311199 RCV001854996
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)	SNV Germline	Chr5:128311895	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10587610	rs_773597432	3 SubmittersRCV000757289 RCV001859446 RCV003165698
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)	SNV Germline	Chr5:128328760	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394969	rs_546172367	3 SubmittersRCV000807074 RCV001812757 RCV002310860
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)	SNV Germline	Chr5:128350903	Conflicting classifications of pathogenicity	Connective tissue disorder Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly FBN2-related disorder	Criteria Provided Conflicting Classifications	CA10587613	rs_138429045	4 SubmittersRCV000659607 RCV002310916 RCV001315396 RCV004745315
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)	SNV Germline	Chr5:128378774	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Congenital contractural arachnodactyly Macular degeneration, early-onset Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3395739	rs_768073096	4 SubmittersRCV000810490 RCV000765802 RCV002310870 RCV004692879
NM_001999.4(FBN2):c.2978G>A (p.Arg993His)	SNV Germline	Chr5:128349358	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395382	rs_774483323	4 SubmittersRCV000688887 RCV001561136 RCV002310935
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)	SNV Germline	Chr5:128344386	Conflicting classifications of pathogenicity	Cardiovascular phenotype Condition: not provided Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA3395268	rs_532983875	4 SubmittersRCV000247075 RCV001651299 RCV002518999 RCV003330609
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)	SNV Germline	Chr5:128357393	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395498	rs_148598779	3 SubmittersRCV000765800 RCV002518725 RCV002311174
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)	SNV Germline	Chr5:128393177	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Congenital contractural arachnodactyly Macular degeneration, early-onset	Criteria Provided Conflicting Classifications	CA3395804	rs_200440156	5 SubmittersRCV000322354 RCV002311200 RCV004591109 RCV002487162
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly)	SNV Germline	Chr5:128530669	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396130	rs_770483769	3 SubmittersRCV000493996 RCV001323582 RCV002311101
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)	SNV Germline	Chr5:128395159	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395863	rs_766004910	4 SubmittersRCV000319990 RCV002311107 RCV002518715
NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)	SNV Germline	Chr5:128527881	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly FBN2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA10587619	rs_886038942	4 SubmittersRCV002310859 RCV002518699 RCV004745314 RCV004721324
NM_001999.4(FBN2):c.244G>A (p.Val82Met)	SNV Germline	Chr5:128537360	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396199	rs_550387143	2 SubmittersRCV002518726 RCV002311175
NM_001999.4(FBN2):c.2084G>A (p.Arg695His)	SNV Germline	Chr5:128374639	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395657	rs_143722436	2 SubmittersRCV000265983 RCV000557220
NM_001999.4(FBN2):c.3162C>T (p.Arg1054=)	SNV Germline	Chr5:128345412	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA10604974	rs_765015874	3 SubmittersRCV000269042 RCV004619243 RCV005090354
NM_001999.4(FBN2):c.2555-6T>C	SNV Germline	Chr5:128357401	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Congenital heart disease	Criteria Provided Conflicting Classifications	CA3395501	rs_376507178	5 SubmittersRCV000270719 RCV001483216 RCV005625508
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)	SNV Germline	Chr5:128286748	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Macular degeneration, early-onset Connective tissue disorder	Criteria Provided Conflicting Classifications	CA3394257	rs_199910288	9 SubmittersRCV000290426 RCV000696153 RCV002374485 RCV001199020 RCV000659629
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)	SNV Germline	Chr5:128334838	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395077	rs_762567430	3 SubmittersRCV000287645 RCV005572305
NM_001999.4(FBN2):c.2901A>G (p.Pro967=)	SNV Germline	Chr5:128349435	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395398	rs_185991527	3 SubmittersRCV000278254 RCV004822039
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)	SNV Germline	Chr5:128259818	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Congenital contractural arachnodactyly Macular degeneration, early-onset Condition: not provided Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA3393820	rs_142747169	10 SubmittersRCV000274441 RCV000765797 RCV000998425 RCV002278581 RCV002436212 RCV004782370
NM_001999.4(FBN2):c.6591A>G (p.Glu2197=)	SNV Germline	Chr5:128289173	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10620109	rs_886059895	2 SubmittersRCV000312485 RCV004021982
NM_001999.4(FBN2):c.6167-4G>A	SNV Germline	Chr5:128291658	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome not specified	Criteria Provided Conflicting Classifications	CA3394478	rs_370981323	6 SubmittersRCV000265109 RCV001706571 RCV002356481 RCV002278582 RCV004526669
NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu)	SNV Germline	Chr5:128335550	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395141	rs_767644891	3 SubmittersRCV000404981 RCV003144239
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)	SNV Germline	Chr5:128344451	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3395279	rs_747248488	4 SubmittersRCV000270212 RCV003480616 RCV005431636
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)	SNV Germline	Chr5:128369216	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395617	rs_201548788	4 SubmittersRCV000369065 RCV000861517 RCV002314072
NM_001999.4(FBN2):c.1078+12A>C	SNV Germline	Chr5:128408662	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA3395899	rs_769211487	3 SubmittersRCV000346122 RCV000445303
NM_001999.4(FBN2):c.645G>T (p.Pro215=)	SNV Germline	Chr5:128464905	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA10622492	rs_764473594	2 SubmittersRCV000354446
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)	SNV Germline	Chr5:128286736	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10622577	rs_886059894	5 SubmittersRCV000320784 RCV001591013 RCV004619273
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)	SNV Germline	Chr5:128349434	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395397	rs_774248421	5 SubmittersRCV000372584 RCV000756154 RCV002436213
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)	SNV Germline	Chr5:128378809	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA10622602	rs_886059902	2 SubmittersRCV000261445
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala)	SNV Germline	Chr5:128274620	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394055	rs_764514988	2 SubmittersRCV000414132 RCV003640889
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His)	SNV Germline	Chr5:128305079	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3394620	rs_368384428	3 SubmittersRCV000697612 RCV000412718 RCV001591050
NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)	SNV Germline	Chr5:128349391	Conflicting classifications of pathogenicity	Marfan syndrome Congenital contractural arachnodactyly Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA16044044	rs_1057519321	2 SubmittersRCV000416376 RCV001861464
NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)	SNV Unknown	Chr15:48444574	Likely pathogenic	Marfan syndrome Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA16044046	rs_1057519320	1 SubmittersRCV000416355
NM_001999.4(FBN2):c.488A>G (p.His163Arg)	SNV Germline	Chr5:128527916	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA16604692	rs_1029299660	3 SubmittersRCV000434872 RCV002313106 RCV003766340
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)	SNV Germline	Chr5:128330620	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Congenital contractural arachnodactyly Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395008	rs_143462011	6 SubmittersRCV000426400 RCV000659619 RCV000799857 RCV002279203 RCV002328978
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)	SNV Germline	Chr5:128344406	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Congenital contractural arachnodactyly Macular degeneration, early-onset	Criteria Provided Conflicting Classifications	CA3395269	rs_148127874	3 SubmittersRCV000417646 RCV001341315 RCV002480312
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)	SNV Germline	Chr5:128366427	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Congenital contractural arachnodactyly Macular degeneration, early-onset Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA3395597	rs_147610681	7 SubmittersRCV000438877 RCV000526169 RCV000765801 RCV002278670 RCV002446667 RCV004800405
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)	SNV Germline	Chr5:128374710	Conflicting classifications of pathogenicity	not specified Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395673	rs_778762668	4 SubmittersRCV000419143 RCV000727006 RCV001442055 RCV002418329
NM_001999.4(FBN2):c.4472-11A>T	SNV Germline	Chr5:128319012	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394927	rs_528062851	5 SubmittersRCV000444280 RCV001152835 RCV005230322
NM_001999.4(FBN2):c.8192+6G>A	SNV Germline	Chr5:128263419	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393900	rs_752575354	2 SubmittersRCV000418958 RCV001345022
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys)	SNV Germline	Chr5:128301463	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394535	rs_758369648	2 SubmittersRCV000444112 RCV003640899
NM_001999.4(FBN2):c.5201-3T>C	SNV Germline	Chr5:128309402	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA16605259	rs_1057521162	2 SubmittersRCV000428673 RCV002525331
NM_001999.4(FBN2):c.3848-10G>A	SNV Germline	Chr5:128335305	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Ehlers-Danlos syndrome FBN2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3395113	rs_140017238	5 SubmittersRCV000423562 RCV000633641 RCV002278657 RCV003950352 RCV005230321
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)	SNV Germline	Chr5:128378843	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395748	rs_138389072	3 SubmittersRCV000433947 RCV002313150 RCV002525519
NM_001999.4(FBN2):c.7533G>T (p.Gly2511=)	SNV Germline	Chr5:128276099	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA16611681	rs_1060503502	2 SubmittersRCV000457799 RCV002393160
NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr)	SNV Germline	Chr5:128330633	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA16611686	rs_1060503511	1 SubmittersRCV000475898
NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)	SNV Germline	Chr5:128330612	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA16611713	rs_1060503510	1 SubmittersRCV000468381
NM_001999.4(FBN2):c.4222+1G>A	SNV Germline	Chr5:128332911	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA16611716	rs_1060503498	1 SubmittersRCV000459072
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)	SNV Germline	Chr5:128339001	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3395247	rs_772041342	4 SubmittersRCV000459625 RCV003380580 RCV003221992
NM_001999.4(FBN2):c.2375G>A (p.Arg792His)	SNV Germline	Chr5:128364653	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder	Criteria Provided Conflicting Classifications	CA3395568	rs_374031658	3 SubmittersRCV000475373 RCV002451132 RCV003942496
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu)	SNV Germline	Chr5:128395214	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395874	rs_139189178	2 SubmittersRCV000461176 RCV001797091
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)	SNV Germline	Chr5:128464816	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396017	rs_747507457	3 SubmittersRCV000461031 RCV005338185
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)	SNV Germline	Chr5:128280272	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA3394227	rs_775905979	2 SubmittersRCV000473008 RCV001001161
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile)	SNV Germline	Chr5:128303036	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394570	rs_763393398	2 SubmittersRCV000457348 RCV002056714
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)	SNV Germline	Chr5:128336002	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified	Criteria Provided Conflicting Classifications	CA3395166	rs_142185964	4 SubmittersRCV000462832 RCV001770358 RCV002313179 RCV005434941
NM_001999.4(FBN2):c.2717G>A (p.Arg906His)	SNV Germline	Chr5:128350963	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395466	rs_370973542	6 SubmittersRCV000476271 RCV001566251 RCV002429546 RCV004782388 RCV005398638
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)	SNV Germline	Chr5:128280193	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA3394222	rs_765676702	5 SubmittersRCV000463820 RCV002313234 RCV001153899 RCV005056043
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)	SNV Germline	Chr5:128330590	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder	Criteria Provided Conflicting Classifications	CA3395004	rs_751400994	6 SubmittersRCV000466168 RCV003323550 RCV002056715 RCV002329074 RCV004745406
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)	SNV Germline	Chr5:128395202	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395870	rs_371826887	2 SubmittersRCV000474036 RCV001764448
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)	SNV Germline	Chr5:128464744	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3396003	rs_771008563	2 SubmittersRCV000462092 RCV004767276
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)	SNV Germline	Chr5:128305076	Conflicting classifications of pathogenicity	Condition: not provided Ehlers-Danlos syndrome Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394619	rs_750837082	3 SubmittersRCV000484526 RCV002279250 RCV002526987
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly)	SNV Germline	Chr5:128537489	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA16618113	rs_763202121	2 SubmittersRCV000480894 RCV002525965
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)	SNV Germline	Chr5:128464747	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA3396004	rs_760817242	5 SubmittersRCV000488222 RCV000795229 RCV002413344 RCV002279252
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg)	SNV Germline	Chr5:128278718	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394170	rs_764759689	3 SubmittersRCV000489631 RCV002383939 RCV002526022
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp)	SNV Germline	Chr5:128393209	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395812	rs_748584140	2 SubmittersRCV000489073 RCV002523415
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)	SNV Germline	Chr5:128537555	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360763286	rs_1085307788	2 SubmittersRCV000489370 RCV002527031
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)	SNV Germline	Chr5:128276155	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394103	rs_779483120	3 SubmittersRCV001087286 RCV000755537
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)	SNV Germline	Chr5:128300890	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA446309260	rs_1131691293	2 SubmittersRCV002524017 RCV000493271
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)	SNV Germline	Chr5:128395250	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395883	rs_562268545	3 SubmittersRCV000493208 RCV005338200 RCV001068745
NM_001999.4(FBN2):c.827-19A>G	SNV Germline	Chr5:128446625	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395974	rs_199559284	2 SubmittersRCV000507588 RCV002524915
NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn)	SNV Germline	Chr5:128335170	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360757283	rs_1554122802	1 SubmittersRCV000515790
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn)	SNV Germline	Chr5:128278778	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394180	rs_758124873	2 SubmittersRCV000522353 RCV003766960
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser)	SNV Germline	Chr5:128290848	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA127034772	rs_1016100479	3 SubmittersRCV000521904 RCV001858027 RCV004822088
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe)	SNV Germline	Chr5:128305583	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394659	rs_150931558	3 SubmittersRCV000523867 RCV001224815 RCV004619311
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)	SNV Germline	Chr5:128312789	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394865	rs_776040052	4 SubmittersRCV000518903 RCV001306832 RCV002314909
NM_001999.4(FBN2):c.4222+5G>A	SNV Germline	Chr5:128332907	Pathogenic	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Multiple Submitters No Conflicts	CA658657486	rs_1554122550	2 SubmittersRCV000519448 RCV002525118
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)	SNV Germline	Chr5:128338011	Conflicting classifications of pathogenicity	Condition: not provided Macular degeneration, early-onset Congenital contractural arachnodactyly Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395197	rs_751600209	3 SubmittersRCV000522133 RCV000768220 RCV002527580
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)	SNV Germline	Chr5:128338061	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395204	rs_771385579	2 SubmittersRCV000522475 RCV002528259
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)	SNV Germline	Chr5:128369232	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395618	rs_745528502	3 SubmittersRCV000520100 RCV002420314 RCV001240363
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)	SNV Germline	Chr5:128339053	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360760082	rs_1348701377	2 SubmittersRCV000556628 RCV003105946
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)	SNV Germline	Chr5:128261870	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Macular degeneration, early-onset Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3393871	rs_752138290	4 SubmittersRCV000540491 RCV001764541 RCV002497079 RCV004023794
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg)	SNV Germline	Chr5:128335566	Pathogenic/Likely pathogenic	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA360758140	rs_1554122857	2 SubmittersRCV000556027 RCV002314952
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)	SNV Germline	Chr5:128338114	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360759585	rs_1554123065	5 SubmittersRCV000549680 RCV000765799 RCV001090286
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)	SNV Germline	Chr5:128344438	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395275	rs_765437414	2 SubmittersRCV000536277 RCV001591205
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)	SNV Germline	Chr5:128377867	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Ehlers-Danlos syndrome not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395726	rs_371046485	5 SubmittersRCV000531266 RCV001575606 RCV002279337 RCV003488662 RCV005328299
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu)	SNV Germline	Chr5:128393182	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395806	rs_376096770	2 SubmittersRCV000542787 RCV004822093
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)	SNV Germline	Chr5:128395262	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395884	rs_762615993	3 SubmittersRCV000528526 RCV003441919 RCV005328298
NM_001999.4(FBN2):c.7012+6C>T	SNV Germline	Chr5:128286712	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided not specified FBN2-related disorder Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394248	rs_749376421	6 SubmittersRCV000560785 RCV001712491 RCV003330755 RCV004745447 RCV003224319
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly)	SNV Germline	Chr5:128393267	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395820	rs_143515269	2 SubmittersRCV000542007 RCV001797099
NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)	SNV Germline	Chr5:128300928	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360766610	rs_1554119321	2 SubmittersRCV000525229
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)	SNV Germline	Chr5:128305876	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Connective tissue disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection not specified FBN2-related disorder	Criteria Provided Conflicting Classifications	CA3394683	rs_140276399	8 SubmittersRCV000559761 RCV000659626 RCV000998428 RCV002350201 RCV003994001 RCV004722878
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)	SNV Germline	Chr5:128338084	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395207	rs_775844150	3 SubmittersRCV000525560 RCV003231526 RCV005572333
NM_001999.4(FBN2):c.3472+1G>A	SNV Germline	Chr5:128338932	Likely pathogenic	Congenital contractural arachnodactyly FBN2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA360759716	rs_1554123136	2 SubmittersRCV000537065 RCV003409774
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)	SNV Germline	Chr5:128344448	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395277	rs_758659538	5 SubmittersRCV000560109 RCV001573843
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp)	SNV Germline	Chr5:128349393	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395389	rs_142249689	2 SubmittersRCV000545913 RCV002438317
NM_001999.4(FBN2):c.195G>A (p.Glu65=)	SNV Germline	Chr5:128537409	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396205	rs_750055830	4 SubmittersRCV000543896 RCV001811036 RCV002420378
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)	SNV Germline	Chr5:128305877	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394684	rs_778519094	4 SubmittersRCV000576804 RCV002483546 RCV001551500
NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)	SNV Germline	Chr5:128338081	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759437	rs_138303817	1 SubmittersRCV000576844
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)	SNV Germline	Chr5:128300830	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA127043151	rs_888075207	2 SubmittersRCV000579305 RCV001069444
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys)	SNV Germline	Chr5:128345429	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360762980	rs_771853346	2 SubmittersRCV000591088 RCV001038947
NM_001999.4(FBN2):c.93G>T (p.Gln31His)	SNV Germline	Chr5:128537511	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3396229	rs_371491169	3 SubmittersRCV001355213 RCV001472308
NM_001999.4(FBN2):c.3847+5A>G	SNV Germline	Chr5:128335450	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA562715421	rs_1444917250	2 SubmittersRCV000607508 RCV003525928
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)	SNV Germline	Chr5:128280245	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3394224	rs_771718967	3 SubmittersRCV001053182 RCV002313341 RCV001572264
NM_001999.4(FBN2):c.6833C>A (p.Thr2278Lys)	SNV Germline	Chr5:128287355	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360759591	rs_2307109	3 SubmittersRCV002314186 RCV003892397 RCV005091779
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)	SNV Germline	Chr5:128312750	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder	Criteria Provided Conflicting Classifications	CA3394860	rs_202218356	5 SubmittersRCV000696433 RCV003144399 RCV002313304 RCV003980202
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)	SNV Germline	Chr5:128312756	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394863	rs_143195229	3 SubmittersRCV003767805 RCV002223886 RCV002313346
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala)	SNV Germline	Chr5:128334722	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395066	rs_768722316	2 SubmittersRCV000796525 RCV002313302
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)	SNV Germline	Chr5:128335224	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA127008422	rs_922751471	3 SubmittersRCV001770551 RCV001345957 RCV002313289
NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr)	SNV Germline	Chr5:128335993	Likely pathogenic	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA360758191	rs_1554122896	2 SubmittersRCV001220794 RCV002313315
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)	SNV Germline	Chr5:128369269	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395621	rs_149733159	3 SubmittersRCV002313294 RCV000704167 RCV002269291
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)	SNV Germline	Chr5:128392068	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395775	rs_748051713	2 SubmittersRCV001227242 RCV002313303
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)	SNV Germline	Chr5:128464878	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3396030	rs_371292311	3 SubmittersRCV002313320 RCV000797105 RCV003226955
NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr)	SNV Germline	Chr5:128519362	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360756260	rs_1554075372	3 SubmittersRCV002313307 RCV003411465 RCV005091784
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)	SNV Germline	Chr5:128374687	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3395669	rs_760483684	7 SubmittersRCV000626246 RCV002420655 RCV001195376 RCV002223891
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)	SNV Germline	Chr5:128259750	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided FBN2-related disorder not specified	Criteria Provided Conflicting Classifications	CA3393803	rs_757028268	7 SubmittersRCV000633580 RCV000765796 RCV002448951 RCV003117441 RCV004745514 RCV004767455
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)	SNV Germline	Chr5:128302991	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394562	rs_369652475	2 SubmittersRCV000633640 RCV003162815
NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp)	SNV Germline	Chr5:128334762	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360756957	rs_1479056828	1 SubmittersRCV000633606
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)	SNV Germline	Chr5:128261798	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA360747381	rs_1262933234	2 SubmittersRCV000633584 RCV003403450
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu)	SNV Germline	Chr5:128274623	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA360753269	rs_1473525001	3 SubmittersRCV001451612 RCV004025428 RCV004768483
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)	SNV Germline	Chr5:128290739	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3394422	rs_772832233	4 SubmittersRCV000633636 RCV003302998 RCV003311866
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)	SNV Germline	Chr5:128301421	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Neurodevelopmental abnormality Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA127043821	rs_995323393	3 SubmittersRCV000633609 RCV001264672 RCV002358774
NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)	SNV Germline	Chr5:128357393	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3395499	rs_148598779	3 SubmittersRCV000633583 RCV000659606 RCV001554961
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)	SNV Germline	Chr5:128309333	Conflicting classifications of pathogenicity	Connective tissue disorder Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394740	rs_760065931	5 SubmittersRCV000659624 RCV000701841 RCV002509494 RCV003163037
NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)	SNV Germline	Chr5:128311329	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394808	rs_769474473	4 SubmittersRCV000659623 RCV001545405 RCV003163036 RCV001868176
NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly)	SNV Germline	Chr5:128335994	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360758196	rs_1554122897	1 SubmittersRCV000659615
NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)	SNV Germline	Chr5:128338938	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Multiple Submitters No Conflicts	CA360759746	rs_1206843725	2 SubmittersRCV000659613
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)	SNV Germline	Chr5:128364669	Conflicting classifications of pathogenicity	Connective tissue disorder Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395573	rs_756348656	3 SubmittersRCV000659603 RCV001347222 RCV005231251
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)	SNV Germline	Chr5:128376806	Conflicting classifications of pathogenicity	Connective tissue disorder Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395698	rs_748419325	2 SubmittersRCV000659600 RCV002534323
NM_001999.4(FBN2):c.827-2A>G	SNV Germline	Chr5:128446608	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360752167	rs_1561461125	1 SubmittersRCV000679985
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)	SNV Germline	Chr5:128286744	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360758778	rs_370804151	2 SubmittersRCV000689925 RCV000998427
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His)	SNV Germline	Chr5:128289180	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394368	rs_144887443	2 SubmittersRCV000700379 RCV003222110
NM_001999.4(FBN2):c.5917+5G>A	SNV Germline	Chr5:128302968	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA891842681	rs_1561758622	1 SubmittersRCV000703551
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser)	SNV Germline	Chr5:128305525	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394647	rs_745759959	2 SubmittersRCV000702523 RCV001766543
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)	SNV Germline	Chr5:128338941	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Macular degeneration, early-onset Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395236	rs_150224718	4 SubmittersRCV000686364 RCV001562730 RCV002493147 RCV004026233
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu)	SNV Germline	Chr5:128278674	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394162	rs_755134019	2 SubmittersRCV000693085 RCV001811444
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile)	SNV Germline	Chr5:128286770	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394260	rs_780214155	2 SubmittersRCV000705960 RCV004822186
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)	SNV Germline	Chr5:128328714	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA3394964	rs_187786356	3 SubmittersRCV000699624 RCV002284430 RCV002279490
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)	SNV Germline	Chr5:128537531	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396235	rs_763408652	3 SubmittersRCV000690148 RCV002477551 RCV004619383
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)	SNV Germline	Chr5:128259526	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA127001774	rs_888064842	2 SubmittersRCV000698835 RCV002369908
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)	SNV Germline	Chr5:128263449	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3393903	rs_746473847	3 SubmittersRCV000691189 RCV002051886
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)	SNV Germline	Chr5:128309375	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394749	rs_774411234	3 SubmittersRCV000689411 RCV004026328
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)	SNV Germline	Chr5:128289135	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394359	rs_745396297	2 SubmittersRCV000705130 RCV002360822
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)	SNV Germline	Chr5:128345512	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Ehlers-Danlos syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3395338	rs_139620380	5 SubmittersRCV000689482 RCV002279486 RCV002223908
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)	SNV Germline	Chr5:128278733	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394174	rs_755437836	2 SubmittersRCV000756155 RCV001053464
NM_001999.4(FBN2):c.842A>G (p.Gln281Arg)	SNV Germline	Chr5:128446591	Conflicting classifications of pathogenicity	High myopia Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395968	rs_773505261	3 SubmittersRCV000785671 RCV005092195 RCV004783849
NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)	SNV Germline	Chr5:128378884	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA127024438	rs_565227443	3 SubmittersRCV000766257 RCV004721584
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)	SNV Germline	Chr5:128259598	Conflicting classifications of pathogenicity	Condition: not provided Macular degeneration, early-onset Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3393778	rs_752201545	4 SubmittersRCV001552287 RCV000784953 RCV000784952 RCV002442606
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)	SNV Germline	Chr5:128408691	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395904	rs_761066631	2 SubmittersRCV001856227 RCV000788679
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)	SNV Germline	Chr5:128261795	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3393856	rs_372206279	2 SubmittersRCV000797083 RCV002424829
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)	SNV Germline	Chr5:128261846	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3393865	rs_529742815	2 SubmittersRCV000823424 RCV002427071
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)	SNV Germline	Chr5:128274578	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394047	rs_150672907	3 SubmittersRCV000800017 RCV002397607
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)	SNV Germline	Chr5:128286744	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394256	rs_370804151	5 SubmittersRCV000799091 RCV001811490 RCV002360943
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)	SNV Germline	Chr5:128286834	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394270	rs_756798856	2 SubmittersRCV000807792 RCV002462170
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)	SNV Germline	Chr5:128289206	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394373	rs_757216544	3 SubmittersRCV000806070 RCV001759542 RCV004619421
NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)	SNV Germline	Chr5:128335176	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360757295	rs_1581223990	1 SubmittersRCV000793416
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His)	SNV Germline	Chr5:128338104	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA360759539	rs_1297011367	3 SubmittersRCV000797580 RCV005240583 RCV003236845
NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)	SNV Germline	Chr5:128344469	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360762142	rs_1581230766	1 SubmittersRCV000807549
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)	SNV Germline	Chr5:128393189	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3395807	rs_138046782	5 SubmittersRCV000823481 RCV003307563 RCV004693400
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)	SNV Germline	Chr5:128464762	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3396006	rs_769593495	2 SubmittersRCV000822378 RCV004702461
NM_001999.4(FBN2):c.4222+10C>A	SNV Germline	Chr5:128332902	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA127006920	rs_376700480	3 SubmittersRCV000827752 RCV001078599 RCV002279553
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)	SNV Germline	Chr5:128274618	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3394052	rs_775848753	4 SubmittersRCV000865296 RCV003169116 RCV003965692 RCV005231419
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)	SNV Germline	Chr5:128311919	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA446307479	rs_1482008222	3 SubmittersRCV000866124 RCV001156519
NM_001999.4(FBN2):c.6293-8T>A	SNV Germline	Chr5:128290892	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Ehlers-Danlos syndrome not specified	Criteria Provided Conflicting Classifications	CA3394441	rs_375682913	3 SubmittersRCV001412532 RCV002279576 RCV003994140
NM_001999.4(FBN2):c.8192+7C>T	SNV Germline	Chr5:128263418	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393899	rs_376135657	2 SubmittersRCV000998426 RCV001324088
NM_001999.4(FBN2):c.6881-5T>G	SNV Germline	Chr5:128286854	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394276	rs_772186151	3 SubmittersRCV001002264 RCV002551693 RCV003380801
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)	SNV Germline	Chr5:128303035	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394569	rs_372879535	3 SubmittersRCV001001085 RCV001066192 RCV001027824
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)	SNV Germline	Chr5:128273939	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394026	rs_146316163	2 SubmittersRCV001044925 RCV003226998
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)	SNV Germline	Chr5:128277955	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394131	rs_373370945	2 SubmittersRCV001055592 RCV001759802
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)	SNV Germline	Chr5:128309992	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA360744350	rs_1476723489	2 SubmittersRCV001060701 RCV004822304
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)	SNV Germline	Chr5:128330621	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395009	rs_374493286	2 SubmittersRCV001061353 RCV001772283
NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)	SNV Germline	Chr5:128334832	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360757240	rs_1750792792	1 SubmittersRCV001047518
NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)	SNV Germline	Chr5:128335533	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360758065	rs_1750812513	1 SubmittersRCV001065940
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)	SNV Germline	Chr5:128345413	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395315	rs_753760095	3 SubmittersRCV001053522 RCV002282441 RCV005572443
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)	SNV Germline	Chr5:128374682	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395668	rs_750406193	2 SubmittersRCV001039681 RCV005338515
NM_001999.4(FBN2):c.5549-8T>A	SNV Germline	Chr5:128305644	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA563056167	rs_1339062362	2 SubmittersRCV001055215 RCV001585955
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)	SNV Germline	Chr5:128357312	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA3395488	rs_555682061	3 SubmittersRCV001072138 RCV002276613
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)	SNV Germline	Chr5:128278642	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder	Criteria Provided Conflicting Classifications	CA3394154	rs_751824761	4 SubmittersRCV001152623 RCV004619526 RCV004746256
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)	SNV Germline	Chr5:128301395	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA446309320	rs_749647897	2 SubmittersRCV001153998
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)	SNV Germline	Chr5:128305598	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360740531	rs_1192632165	3 SubmittersRCV001154850 RCV004777974
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)	SNV Germline	Chr5:128318258	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA446308207	rs_1176811808	2 SubmittersRCV001152833
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)	SNV Germline	Chr5:128318984	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394922	rs_150986564	3 SubmittersRCV001152834 RCV001799737
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)	SNV Germline	Chr5:128376735	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395694	rs_750685055	4 SubmittersRCV003433052 RCV001154340 RCV002418597
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)	SNV Germline	Chr5:128393347	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395835	rs_769840338	3 SubmittersRCV001155173 RCV005328542
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)	SNV Germline	Chr5:128395196	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395869	rs_750949734	3 SubmittersRCV001155174 RCV005340648
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)	SNV Germline	Chr5:128395210	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA446306137	rs_749428195	2 SubmittersRCV001155175
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)	SNV Germline	Chr5:128464870	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3396028	rs_760247833	3 SubmittersRCV001151410 RCV003433044
NM_001999.4(FBN2):c.3218-13A>T	SNV Germline	Chr5:128344523	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395290	rs_200543836	2 SubmittersRCV001151152
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)	SNV Germline	Chr5:128278806	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394186	rs_762730300	2 SubmittersRCV001221818 RCV004619564
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)	SNV Germline	Chr5:128290738	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394421	rs_370650204	2 SubmittersRCV001224771 RCV001812258
NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser)	SNV Germline	Chr5:128330617	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360753978	rs_1750667332	1 SubmittersRCV001215872
NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)	SNV Germline	Chr5:128338111	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759566	rs_1750894751	1 SubmittersRCV001219040
NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr)	SNV Germline	Chr5:128364644	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360768295	rs_1057524398	1 SubmittersRCV001215923
NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)	SNV Germline	Chr5:128301400	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360766684	rs_1749713036	1 SubmittersRCV001204497
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)	SNV Germline	Chr5:128344468	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360762137	rs_1751115198	2 SubmittersRCV001203258
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)	SNV Germline	Chr5:128303071	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3394574	rs_749907917	3 SubmittersRCV001228916 RCV002356980 RCV002264237
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)	SNV Germline	Chr5:128259657	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360745553	rs_200345491	2 SubmittersRCV001247566 RCV002290660
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)	SNV Germline	Chr5:128305547	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394652	rs_546148828	3 SubmittersRCV001247099 RCV005253765 RCV003166552
NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg)	SNV Germline	Chr5:128318957	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360750589	rs_1750289332	2 SubmittersRCV001243670 RCV003442807
NM_001999.4(FBN2):c.1093A>G (p.Met365Val)	SNV Germline	Chr5:128395260	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360751034	rs_1401325502	2 SubmittersRCV001246160 RCV005428150
NM_001999.4(FBN2):c.4346-2A>G	SNV Germline	Chr5:128328823	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360753367	rs_587776518	1 SubmittersRCV001230303
NM_001999.4(FBN2):c.533-1G>C	SNV Germline	Chr5:128519369	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360756301	rs_1756369186	1 SubmittersRCV001256186
NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg)	SNV Germline	Chr5:128338939	Pathogenic/Likely pathogenic	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA360759755	rs_1750917259	3 SubmittersRCV003128085 RCV004017813
NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg)	SNV Unknown	Chr5:128338981	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759920	rs_1750918931	1 SubmittersRCV001270844
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)	SNV Germline	Chr5:128259519	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393770	rs_768293070	4 SubmittersRCV002447254 RCV001574931 RCV001871699
NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe)	SNV Germline	Chr5:128335499	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360757986	rs_1750811749	1 SubmittersRCV001299697
NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)	SNV Germline	Chr5:128335499	Pathogenic/Likely pathogenic	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Multiple Submitters No Conflicts	CA360757987	rs_1750811749	2 SubmittersRCV004727098 RCV001300210
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)	SNV Germline	Chr5:128345482	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3395330	rs_754884110	5 SubmittersRCV001294271 RCV002322183 RCV003120540
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)	SNV Germline	Chr5:128408784	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395919	rs_747748647	2 SubmittersRCV002274183 RCV001301722
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)	SNV Germline	Chr5:128537518	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396232	rs_771712321	2 SubmittersRCV001303765 RCV004036288
NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr)	SNV Germline	Chr5:128336032	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360758269	rs_1750830797	2 SubmittersRCV001326009 RCV001751632
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)	SNV Germline	Chr5:128537384	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3396201	rs_779812100	3 SubmittersRCV001320094 RCV002431914 RCV002466660
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)	SNV Germline	Chr5:128338968	Likely pathogenic	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA360759892	rs_1750918319	4 SubmittersRCV001332073 RCV004597985
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)	SNV Germline	Chr5:128290744	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394424	rs_766271753	3 SubmittersRCV001338866 RCV001776205
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)	SNV Germline	Chr5:128291616	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA360764512	rs_1295335940	2 SubmittersRCV001337858 RCV002276695
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)	SNV Germline	Chr5:128335186	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395098	rs_769665538	2 SubmittersRCV001348278 RCV005562707
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)	SNV Germline	Chr5:128464846	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly FBN2-related disorder Condition: not provided Congenital contractural arachnodactyly Macular degeneration, early-onset Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396023	rs_367767903	5 SubmittersRCV001346681 RCV003393990 RCV001773690 RCV002486413 RCV005572561
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)	SNV Germline	Chr5:128537353	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3396197	rs_747084358	2 SubmittersRCV001342953 RCV001810725
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)	SNV Germline	Chr5:128334766	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA127008180	rs_1039821634	2 SubmittersRCV001363878 RCV002223305
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)	SNV Germline	Chr5:128335281	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395110	rs_371512923	2 SubmittersRCV001365153 RCV002357245
NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr)	SNV Germline	Chr5:128300861	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360766345	rs_2126833724	1 SubmittersRCV001378653
NM_001999.4(FBN2):c.7012+7G>C	SNV Germline	Chr5:128286711	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA562714407	rs_199735209	2 SubmittersRCV001402955 RCV002276726
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)	SNV Germline	Chr5:128335179	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395096	rs_367614052	2 SubmittersRCV001413991 RCV005232323
NM_001999.4(FBN2):c.8364+7A>G	SNV Germline	Chr5:128261729	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Ehlers-Danlos syndrome Connective tissue disorder	Criteria Provided Conflicting Classifications	CA127003543	rs_185052980	3 SubmittersRCV001471914 RCV001712906 RCV002276743 RCV002276744
NM_001999.4(FBN2):c.5800+10G>A	SNV Germline	Chr5:128304947	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA126983092	rs_546373462	3 SubmittersRCV001458997 RCV004587160
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)	SNV Germline	Chr5:128330635	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA3395014	rs_367961012	3 SubmittersRCV001496601 RCV002329614 RCV004815534
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)	SNV Germline	Chr5:128286757	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394258	rs_751231315	2 SubmittersRCV001547826 RCV002568970
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val)	SNV Germline	Chr5:128278800	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394184	rs_141854054	3 SubmittersRCV001551272 RCV002370192 RCV003640967
NM_001999.4(FBN2):c.629-6T>C	SNV Germline	Chr5:128464927	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA3396034	rs_757696693	3 SubmittersRCV001549779 RCV003640966 RCV005057501
NM_001999.4(FBN2):c.584G>A (p.Arg195His)	SNV Germline	Chr5:128519317	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3396065	rs_746890032	2 SubmittersRCV001556056 RCV002032616
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg)	SNV Germline	Chr5:128369211	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA360738863	rs_1204171410	3 SubmittersRCV001564621 RCV001882664 RCV005341026
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His)	SNV Germline	Chr5:128335223	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395101	rs_139428175	2 SubmittersRCV001569968 RCV001866018
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala)	SNV Germline	Chr5:128408695	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly FBN2-related disorder Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395905	rs_149992874	4 SubmittersRCV001585382 RCV002072324 RCV003921250 RCV005564889
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)	SNV Germline	Chr5:128263479	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393914	rs_754101758	2 SubmittersRCV001663351 RCV003640979
NM_001999.4(FBN2):c.5673A>G (p.Val1891=)	SNV Germline	Chr5:128305512	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA446306523	rs_746792907	2 SubmittersRCV001653323 RCV005094867
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)	SNV Germline	Chr5:128301445	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394533	rs_145588052	3 SubmittersRCV001754154 RCV002032749 RCV002488503
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)	SNV Germline	Chr5:128330632	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395013	rs_771467729	3 SubmittersRCV001756445 RCV002032763 RCV003298960
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys)	SNV Germline	Chr5:128338027	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395200	rs_755737169	2 SubmittersRCV001751849 RCV002539911
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)	SNV Germline	Chr5:128259621	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393785	rs_754475064	2 SubmittersRCV001773799 RCV002032822
NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe)	SNV Germline	Chr5:128336101	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360758424	rs_2126898748	2 SubmittersRCV001772534 RCV002032866
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)	SNV Germline	Chr5:128393189	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395808	rs_138046782	2 SubmittersRCV001763135 RCV002538822
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)	SNV Germline	Chr5:128263474	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393910	rs_772569905	2 SubmittersRCV001765733 RCV003526099
NM_001999.4(FBN2):c.1525C>T (p.Arg509Cys)	SNV Germline	Chr5:128392096	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395781	rs_775037345	2 SubmittersRCV001765288 RCV005094993
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)	SNV Germline	Chr5:128335266	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360757498	rs_1263059454	3 SubmittersRCV001767532 RCV002359242 RCV003771999
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val)	SNV Germline	Chr5:128335560	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395144	rs_144933639	2 SubmittersRCV001752807 RCV003640992
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)	SNV Germline	Chr5:128537522	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3396233	rs_772841538	3 SubmittersRCV001769185 RCV001868585 RCV002425055
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu)	SNV Germline	Chr5:128274602	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394050	rs_770193908	3 SubmittersRCV001763986 RCV003526101
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala)	SNV Germline	Chr5:128276107	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394095	rs_752627315	2 SubmittersRCV002034641 RCV001794575
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)	SNV Germline	Chr5:128289246	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394377	rs_143054385	3 SubmittersRCV002542352 RCV001812566
NM_001999.4(FBN2):c.4296C>A (p.Tyr1432Ter)	SNV Germline	Chr5:128330622	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360754001	rs_147046215	1 SubmittersRCV001808146
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)	SNV Germline	Chr5:128300919	Conflicting classifications of pathogenicity	Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly not specified	Criteria Provided Conflicting Classifications	CA3394507	rs_545524318	4 SubmittersRCV001843685 RCV002359278 RCV002034717 RCV004699487
NM_001999.4(FBN2):c.1643A>C (p.Asp548Ala)	SNV Germline	Chr5:128378851	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395749	rs_757406333	4 SubmittersRCV002034866 RCV005057676 RCV005572647
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser)	SNV Germline	Chr5:128393200	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395811	rs_779849582	2 SubmittersRCV002224128 RCV001979586
NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser)	SNV Germline	Chr5:128344430	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360761946	rs_2126912100	1 SubmittersRCV001984410
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)	SNV Germline	Chr5:128263572	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3393947	rs_370250073	2 SubmittersRCV001991794 RCV005343246
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)	SNV Germline	Chr5:128333031	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3395051	rs_28763942	2 SubmittersRCV002032343 RCV002324507
NM_001999.4(FBN2):c.3472+2T>C	SNV Germline	Chr5:128338931	Pathogenic	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA360759709	rs_2126903614	2 SubmittersRCV001941718 RCV003481219
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)	SNV Germline	Chr5:128378828	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360743677	rs_1256710897	2 SubmittersRCV001945385 RCV002223325
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser)	SNV Germline	Chr5:128263492	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3393922	rs_145809527	2 SubmittersRCV001940263 RCV002224116
NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)	SNV Germline	Chr5:128335566	Pathogenic/Likely pathogenic	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA360758139	rs_1554122857	2 SubmittersRCV001975155 RCV004044394
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)	SNV Germline	Chr5:128263632	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided FBN2-related disorder	Criteria Provided Conflicting Classifications	CA3393957	rs_765867245	4 SubmittersRCV002048634 RCV003146488 RCV003941250
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)	SNV Germline	Chr5:128464741	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection FBN2-related disorder	Criteria Provided Conflicting Classifications	CA3396001	rs_148971572	3 SubmittersRCV001972111 RCV005565033 RCV004746528
NM_001999.4(FBN2):c.5801-5T>G	SNV Germline	Chr5:128303094	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA3394583	rs_571282132	2 SubmittersRCV002019123 RCV002276969
NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr)	SNV Germline	Chr5:128336080	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA360758380	rs_2126898679	2 SubmittersRCV001999522 RCV003442996
NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr)	SNV Germline	Chr5:128332950	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360754841	rs_886038935	1 SubmittersRCV002011348
NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr)	SNV Germline	Chr5:128338074	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759412	rs_1581226080	1 SubmittersRCV002050144
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys)	SNV Germline	Chr5:128273960	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3394028	rs_377689621	2 SubmittersRCV002028258 RCV005002764
NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr)	SNV Germline	Chr5:128330578	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360753810	rs_2126888942	1 SubmittersRCV002031915
NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter)	SNV Germline	Chr5:128286745	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360758783	rs_1287289593	2 SubmittersRCV001950154
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)	SNV Germline	Chr5:128335254	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395105	rs_755489065	2 SubmittersRCV002006534 RCV005433110
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)	SNV Germline	Chr5:128303072	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Ehlers-Danlos syndrome	Criteria Provided Conflicting Classifications	CA3394575	rs_755672868	2 SubmittersRCV001930973 RCV002276931
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)	SNV Germline	Chr5:128286766	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Connective tissue disorder	Criteria Provided Conflicting Classifications	CA3394259	rs_756500246	2 SubmittersRCV002124737 RCV002277024
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)	SNV Germline	Chr5:128277966	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly Macular degeneration, early-onset	Criteria Provided Conflicting Classifications	CA3394133	rs_576501460	3 SubmittersRCV002151314 RCV003382858 RCV005032180
NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)	SNV Germline	Chr5:128338981	Pathogenic/Likely pathogenic	Congenital contractural arachnodactyly Macular degeneration, early-onset Congenital contractural arachnodactyly	Criteria Provided Multiple Submitters No Conflicts	CA360759919	rs_1750918931	2 SubmittersRCV002208744 RCV003526114
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile)	SNV Germline	Chr5:128301487	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394540	rs_527609978	2 SubmittersRCV002211005 RCV003526115
NM_001999.4(FBN2):c.3515G>C (p.Gly1172Ala)	SNV Germline	Chr5:128338080	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA127014906	rs_931046977	2 SubmittersRCV002224279 RCV005095756
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg)	SNV Germline	Chr5:128273924	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394022	rs_747305733	2 SubmittersRCV002224357 RCV003641004
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)	SNV Germline	Chr5:128339056	Conflicting classifications of pathogenicity	Condition: not provided not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395254	rs_537477883	4 SubmittersRCV002224376 RCV003491053 RCV003101268
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)	SNV Germline	Chr5:128288530	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394335	rs_747908706	2 SubmittersRCV002223551 RCV003774658
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)	SNV Germline	Chr5:128333016	Conflicting classifications of pathogenicity	not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA127007021	rs_971727405	2 SubmittersRCV002248219 RCV003101334
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)	SNV Germline	Chr5:128310057	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394772	rs_759117573	3 SubmittersRCV002278037 RCV004823025 RCV003526120
NM_001999.4(FBN2):c.6046+10T>C	SNV Germline	Chr5:128301372	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA803627089	rs_1179452976	2 SubmittersRCV002278039 RCV003526121
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)	SNV Germline	Chr5:128259757	Conflicting classifications of pathogenicity	Ehlers-Danlos syndrome Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3393805	rs_199808954	4 SubmittersRCV002278043 RCV002471274 RCV005620442
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)	SNV Germline	Chr5:128339007	Conflicting classifications of pathogenicity	Connective tissue disorder Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA360759979	rs_2126903780	3 SubmittersRCV002278727 RCV003774912
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)	SNV Germline	Chr5:128336086	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395178	rs_527944843	2 SubmittersRCV002283189 RCV003774929
NM_001999.4(FBN2):c.3778T>C (p.Ser1260Pro)	SNV Germline	Chr5:128335524	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360758046	rs_2479801847	1 SubmittersRCV002287303
NM_001999.4(FBN2):c.91C>T (p.Gln31Ter)	SNV Germline	Chr5:128537513	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360762952	rs_2479828044	1 SubmittersRCV002289363
NM_001999.4(FBN2):c.4658G>A (p.Arg1553His)	SNV Germline	Chr5:128318208	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394889	rs_772173133	2 SubmittersRCV002292104 RCV005096079
NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)	SNV Germline	Chr5:128330578	Likely pathogenic	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA360753806	rs_2126888942	2 SubmittersRCV005058366 RCV002332198
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)	SNV Germline	Chr5:128369280	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395622	rs_773896695	2 SubmittersRCV002432464 RCV003641046
NM_001999.4(FBN2):c.2342A>G (p.Asn781Ser)	SNV Germline	Chr5:128364686	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection not specified Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395575	rs_768485269	3 SubmittersRCV002448298 RCV005406464 RCV005098088
NM_001999.4(FBN2):c.3968G>C (p.Cys1323Ser)	SNV Germline	Chr5:128335175	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360757293	rs_2479800482	1 SubmittersRCV002470352
NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)	SNV Germline	Chr5:128332912	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360754566	rs_2479791649	1 SubmittersRCV003060010
NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)	SNV Germline	Chr5:128338060	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759363	rs_2479809538	1 SubmittersRCV003037119
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)	SNV Germline	Chr5:128393325	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA446305914	rs_1453858339	2 SubmittersRCV004617166 RCV003060413
NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)	SNV Germline	Chr5:128328701	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA3394961	rs_374977692	1 SubmittersRCV002595063
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)	SNV Germline	Chr5:128338115	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA127014943	rs_142323824	2 SubmittersRCV002629591 RCV003234227
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)	SNV Germline	Chr5:128259637	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA127001940	rs_372839477	2 SubmittersRCV003114976 RCV005429423
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)	SNV Germline	Chr5:128263430	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA446305837	rs_1765029546	2 SubmittersRCV002600698 RCV004617051
NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)	SNV Germline	Chr5:128335565	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360758138	rs_2479801974	1 SubmittersRCV002608853
NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)	SNV Germline	Chr5:128330618	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360753982	rs_2479786404	1 SubmittersRCV002881487
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)	SNV Germline	Chr5:128446576	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA127030153	rs_913201162	2 SubmittersRCV002927201 RCV004786772
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)	SNV Germline	Chr5:128361791	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395532	rs_575873653	2 SubmittersRCV003002366 RCV004593118
NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)	SNV Germline	Chr5:128338113	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759578	rs_2479809749	1 SubmittersRCV003010473
NM_001999.4(FBN2):c.3974-9A>G	SNV Germline	Chr5:128334853	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA2580072568	rs_2479797387	2 SubmittersRCV003140468
NM_001999.4(FBN2):c.3425G>A (p.Cys1142Tyr)	SNV Germline	Chr5:128338980	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759918	rs_137852828	1 SubmittersRCV003234951
NM_001999.4(FBN2):c.3230G>A (p.Cys1077Tyr)	SNV Germline	Chr5:128344498	Pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA360762284	rs_2479287527	1 SubmittersRCV003334333
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)	SNV Germline	Chr5:128395232	Conflicting classifications of pathogenicity	FBN2-related disorder Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395880	rs_750425112	3 SubmittersRCV003421088 RCV004621784 RCV003778337
NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)	SNV Germline	Chr5:128335176	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Marfan syndrome	Criteria Provided Conflicting Classifications	CA360757296	rs_1581223990	2 SubmittersRCV003525414 RCV003447703
NM_001999.4(FBN2):c.6050C>T (p.Thr2017Ile)	SNV Germline	Chr5:128300933	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3394509	rs_570637550	2 SubmittersRCV003481770 RCV005100292
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)	SNV Germline	Chr5:128357362	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3395494	rs_781700589	2 SubmittersRCV003481771 RCV003641103
NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)	SNV Germline	Chr5:128344435	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360761965	rs_2479287232	1 SubmittersRCV003525570
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)	SNV Germline	Chr5:128332957	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360754900	rs_2479791800	1 SubmittersRCV003525557
NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe)	SNV Germline	Chr5:128333022	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360755426	rs_2479792118	1 SubmittersRCV003525797
NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)	SNV Germline	Chr5:128330645	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360754094	rs_1750668598	1 SubmittersRCV003527201
NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)	SNV Germline	Chr5:128338090	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759480	rs_2479809648	1 SubmittersRCV003527574
NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)	SNV Germline	Chr5:128335532	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360758064	rs_2479801867	1 SubmittersRCV003526385
NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)	SNV Germline	Chr5:128330617	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360753976	rs_1750667332	1 SubmittersRCV003526602
NM_001999.4(FBN2):c.3547T>C (p.Cys1183Arg)	SNV Unknown	Chr5:128338048	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759336	rs_2479809519	1 SubmittersRCV003526643
NM_001999.4(FBN2):c.3598+6T>G	SNV Germline	Chr5:128337991	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA2739275020	rs_2479809369	1 SubmittersRCV003641750
NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)	SNV Germline	Chr5:128344430	Pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360761941	rs_2126912100	1 SubmittersRCV003640438
NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)	SNV Germline	Chr5:128338001	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360759082	rs_2479809390	1 SubmittersRCV003640743
NM_001999.4(FBN2):c.1500T>G (p.His500Gln)	SNV Germline	Chr5:128392121	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly not specified Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA360747972	rs_1422851315	3 SubmittersRCV003640833 RCV005435269 RCV004621864
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)	SNV Germline	Chr5:128345372	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395311	rs_761958762	2 SubmittersRCV003641918 RCV004593434
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)	SNV Germline	Chr5:128273843	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394007	rs_770800096	3 SubmittersRCV003640825 RCV004763756 RCV005575212
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)	SNV Germline	Chr5:128305587	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394661	rs_140663455	2 SubmittersRCV003642031 RCV005567611
NM_001999.4(FBN2):c.3725-3C>T	SNV Germline	Chr5:128335580	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly Macular degeneration, early-onset	Criteria Provided Conflicting Classifications	CA2739275048	rs_2479802016	3 SubmittersRCV003642093 RCV004823194 RCV004723449
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)	SNV Germline	Chr5:128357378	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA3395495	rs_746173019	2 SubmittersRCV003642332 RCV004697309
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)	SNV Germline	Chr5:128328770	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA3394972	rs_759272453	2 SubmittersRCV003642251 RCV005567619
NM_001999.4(FBN2):c.7912G>A (p.Gly2638Ser)	SNV Germline	Chr5:128272047	Conflicting classifications of pathogenicity	FBN2-related disorder Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications	CA3393979	rs_565953623	3 SubmittersRCV003971991 RCV004546841
NM_001999.4(FBN2):c.7849G>T (p.Glu2617Ter)	SNV Germline	Chr5:128272110	Likely pathogenic	Congenital contractural arachnodactyly	No Assertion Criteria Provided	CA360751839	rs_2479632082	1 SubmittersRCV003989445
NM_001999.4(FBN2):c.6248G>T (p.Cys2083Phe)	SNV Germline	Chr5:128291573	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter	CA360764393	rs_2479684419	1 SubmittersRCV004555220
NM_001999.4(FBN2):c.8046G>A (p.Ser2682=)	SNV Germline	Chr5:128263571	Conflicting classifications of pathogenicity	not specified Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications			3 SubmittersRCV004690579 RCV005335986 RCV005103528
NM_001999.4(FBN2):c.4594+2T>C	SNV Germline	Chr5:128318877	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV004699007
NM_001999.4(FBN2):c.6800G>A (p.Arg2267His)	SNV Germline	Chr5:128287388	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications			2 SubmittersRCV004773560 RCV005104982
NM_001999.4(FBN2):c.2242A>T (p.Asn748Tyr)	SNV Germline	Chr5:128369188	Conflicting classifications of pathogenicity	Condition: not provided Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications			2 SubmittersRCV004777271 RCV005105018
NM_001999.4(FBN2):c.1867A>G (p.Thr623Ala)	SNV Germline	Chr5:128376836	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications			2 SubmittersRCV004823438 RCV005110260
NM_001999.4(FBN2):c.1405C>T (p.Pro469Ser)	SNV Germline	Chr5:128393195	Conflicting classifications of pathogenicity	Familial thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications			2 SubmittersRCV004823445 RCV005110263
NM_001999.4(FBN2):c.1232-17A>G	SNV Germline	Chr5:128393385	Conflicting classifications of pathogenicity	Macular degeneration, early-onset Congenital contractural arachnodactyly Congenital contractural arachnodactyly	Criteria Provided Conflicting Classifications			2 SubmittersRCV005033256 RCV005112870
NM_001999.4(FBN2):c.3506G>A (p.Cys1169Tyr)	SNV Germline	Chr5:128338089	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005122571
NM_001999.4(FBN2):c.4001A>G (p.Asn1334Ser)	SNV Germline	Chr5:128334817	Conflicting classifications of pathogenicity	Congenital contractural arachnodactyly Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications			2 SubmittersRCV005127095 RCV005559861
NM_001999.4(FBN2):c.3554G>A (p.Cys1185Tyr)	SNV Germline	Chr5:128338041	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005124264
NM_001999.4(FBN2):c.3548G>C (p.Cys1183Ser)	SNV Germline	Chr5:128338047	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005124265
NM_001999.4(FBN2):c.3674G>A (p.Cys1225Tyr)	SNV Germline	Chr5:128336038	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005136065
NM_001999.4(FBN2):c.4093T>G (p.Cys1365Gly)	SNV Germline	Chr5:128334725	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005145432
NM_001999.4(FBN2):c.3079T>C (p.Cys1027Arg)	SNV Germline	Chr5:128345495	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005167897
NM_001999.4(FBN2):c.8084A>G (p.Asp2695Gly)	SNV Germline	Chr5:128263533	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005233158
NM_001999.4(FBN2):c.3812G>T (p.Gly1271Val)	SNV Unknown	Chr5:128335490	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005247985
NM_001999.4(FBN2):c.3425G>C (p.Cys1142Ser)	SNV Germline	Chr5:128338980	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005252492
NM_001999.4(FBN2):c.3598+4A>G	SNV Germline	Chr5:128337993	Likely pathogenic	Congenital contractural arachnodactyly	Criteria Provided Single Submitter			1 SubmittersRCV005412212

NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr)

SNV
Germline

Chr5:128335544

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA281512

rs_137852825

2 SubmittersRCV000000548

NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys)

SNV
Germline

Chr5:128395182

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA281513

rs_137852826

1 SubmittersRCV000000549

NM_001999.4(FBN2):c.4346-2A>T

SNV
Germline

Chr5:128328823

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA281514

rs_587776518

2 SubmittersRCV000000551

NM_001999.4(FBN2):c.3725-15A>G

SNV
Germline

Chr5:128335592

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA281515

rs_587776519

2 SubmittersRCV000000552

NM_001999.4(FBN2):c.3974-26T>G

SNV
Germline

Chr5:128334870

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA2573052418

rs_2126895611

1 SubmittersRCV000000553

NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)

SNV
Germline

Chr5:128344385

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA281516

rs_137852827

1 SubmittersRCV000000554

NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe)

SNV
Germline

Chr5:128338980

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA281517

rs_137852828

1 SubmittersRCV000000555

NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp)

SNV
Germline

Chr5:128335543

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA281518

rs_28931602

1 SubmittersRCV000000556

NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys)

SNV
Germline

Chr5:128335525

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA281519

rs_267606802

1 SubmittersRCV000000557

NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)

SNV
Germline

Chr5:128369269

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
FBN2-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA288814

rs_149733159

6 SubmittersRCV000117018 RCV000537654 RCV000766968 RCV004745192 RCV005338081

NM_001999.4(FBN2):c.1850-9C>T

SNV
Germline

Chr5:128376862

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA290860

rs_199937209

8 SubmittersRCV000125035 RCV000356256 RCV001705910 RCV000659599

NM_001999.4(FBN2):c.2427T>A (p.Ile809=)

SNV
Germline

Chr5:128364601

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Connective tissue disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA232481

rs_139686090

14 SubmittersRCV000225712 RCV000232742 RCV000659604 RCV000724447 RCV002310691 RCV002277247

NM_001999.4(FBN2):c.2508G>A (p.Thr836=)

SNV
Germline

Chr5:128361769

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
FBN2-related disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA290861

rs_372872626

7 SubmittersRCV000125037 RCV000308379 RCV002277248 RCV004724823 RCV005425736 RCV002310692

NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)

SNV
Germline

Chr5:128345529

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA290864

rs_371640952

5 SubmittersRCV000125043 RCV000726689 RCV002055536 RCV002444586

NM_001999.4(FBN2):c.5496C>T (p.Arg1832=)

SNV
Germline

Chr5:128305875

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Connective tissue disorder
not specified
Condition: not provided
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA211147

rs_35346129

15 SubmittersRCV000229763 RCV000659627 RCV000178522 RCV001795235 RCV002277260 RCV002310701

NM_001999.4(FBN2):c.6511+5G>A

SNV
Germline

Chr5:128289877

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Condition: not provided
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA303025

rs_200608284

13 SubmittersRCV000179087 RCV000768219 RCV000363479 RCV000589750 RCV002277263 RCV002310702 RCV002277262

NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)

SNV
Germline

Chr5:128277971

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA290892

rs_147102633

12 SubmittersRCV000125077 RCV000274543 RCV002311016 RCV000726425 RCV002277264

NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)

SNV
Germline

Chr5:128527886

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Congenital contractural arachnodactyly
Connective tissue disorder
Condition: not provided
Ehlers-Danlos syndrome
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA245202

rs_147157552

15 SubmittersRCV000143896 RCV000199324 RCV000229340 RCV000659593 RCV000724479 RCV002277283 RCV003935229

NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)

SNV
Germline

Chr5:128273872

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
Condition: not provided
Macular degeneration, early-onset
Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA345813

rs_374507398

10 SubmittersRCV000143897 RCV000534366 RCV001311668 RCV002055857 RCV005417973

NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys)

SNV
Germline

Chr5:128338975

Conflicting classifications of pathogenicity

Macular degeneration, early-onset
Congenital contractural arachnodactyly
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA174026

rs_200060005

6 SubmittersRCV000148948 RCV000468154 RCV000680529 RCV002311021 RCV003313043

NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)

SNV
Germline

Chr5:128537494

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA238729

rs_201255083

9 SubmittersRCV000197074 RCV000389183 RCV000724116 RCV002310741

NM_001999.4(FBN2):c.1365G>T (p.Gly455=)

SNV
Germline

Chr5:128393235

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA239208

rs_794726987

4 SubmittersRCV000173752 RCV000464412 RCV004821991

NM_001999.4(FBN2):c.4151G>A (p.Cys1384Tyr)

SNV
Germline

Chr5:128332983

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA244152

rs_794727560

3 SubmittersRCV000177645 RCV000659618

NM_001999.4(FBN2):c.4100-9G>T

SNV
Germline

Chr5:128333043

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA244153

rs_377002313

5 SubmittersRCV000242150 RCV001513936 RCV000724621

NM_001999.4(FBN2):c.8247A>G (p.Thr2749=)

SNV
Germline

Chr5:128261853

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified
Condition: not provided
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA211158

rs_116413101

8 SubmittersRCV000228293 RCV000194876 RCV001812183 RCV002277456 RCV002310754

NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)

SNV
Germline

Chr5:128278775

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA319691

rs_148014419

5 SubmittersRCV000192472 RCV000532448 RCV001721252 RCV002314816 RCV004745261

NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile)

SNV
Germline

Chr5:128289213

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA319708

rs_149071226

7 SubmittersRCV000193392 RCV000395130 RCV001721251 RCV002314815

NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)

SNV
Germline

Chr5:128332993

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Connective tissue disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA319740

rs_78727187

15 SubmittersRCV000195111 RCV000331925 RCV000659617 RCV001573307 RCV002310752 RCV002277454

NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)

SNV
Germline

Chr5:128336022

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA207753

rs_774807410

4 SubmittersRCV000193937 RCV000526581 RCV001711495 RCV002345691

NM_001999.4(FBN2):c.158G>A (p.Gly53Asp)

SNV
Germline

Chr5:128537446

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA206333

rs_375093230

2 SubmittersRCV000193087 RCV001852556

NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)

SNV
Germline

Chr5:128259493

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322116

rs_781069799

3 SubmittersRCV000197656 RCV001241938 RCV002372170

NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)

SNV
Germline

Chr5:128259516

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA323303

rs_863223615

3 SubmittersRCV000198778 RCV000796322

NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr)

SNV
Germline

Chr5:128259520

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Macular degeneration, early-onset

Criteria Provided
Conflicting Classifications

CA319796

rs_557212203

5 SubmittersRCV000541423 RCV001705106 RCV002372169 RCV004700586

NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln)

SNV
Germline

Chr5:128259550

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325081

rs_765693576

3 SubmittersRCV000200499 RCV000226426 RCV002372171

NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile)

SNV
Germline

Chr5:128259664

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324734

rs_147134796

5 SubmittersRCV000796581 RCV001786339 RCV002277515 RCV005562319

NM_001999.4(FBN2):c.8498G>A (p.Arg2833His)

SNV
Germline

Chr5:128259696

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA321628

rs_753753954

3 SubmittersRCV000197185 RCV002311056 RCV002515360

NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)

SNV
Germline

Chr5:128261818

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Connective tissue disorder
Condition: not provided
See cases
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA322766

rs_201962592

11 SubmittersRCV000347766 RCV002277531 RCV000755536 RCV002252049 RCV002315587 RCV004586615

NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)

SNV
Germline

Chr5:128261861

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320216

rs_145353444

6 SubmittersRCV000195837 RCV000284862 RCV002500602 RCV002277513 RCV002310776

NM_001999.4(FBN2):c.8193-7C>G

SNV
Germline

Chr5:128261914

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA325257

rs_754837805

2 SubmittersRCV000200672 RCV001233264

NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)

SNV
Germline

Chr5:128263531

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321180

rs_373994051

6 SubmittersRCV000469973 RCV000196760 RCV003401069 RCV002408866

NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)

SNV
Germline

Chr5:128263535

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
not specified
FBN2-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323605

rs_142755118

13 SubmittersRCV000659022 RCV000228951 RCV002277512 RCV003330563 RCV003927824 RCV002310775

NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys)

SNV
Germline

Chr5:128272017

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320496

rs_375316758

4 SubmittersRCV000196087 RCV000810864 RCV005042418 RCV005572283

NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)

SNV
Germline

Chr5:128272073

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324578

rs_768750542

4 SubmittersRCV000487517 RCV001059950 RCV004020360

NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)

SNV
Germline

Chr5:128274588

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
FBN2-related disorder
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA323011

rs_373970388

7 SubmittersRCV000198498 RCV002277529 RCV002277530 RCV002399726 RCV001088783 RCV003947620 RCV005396582

NM_001999.4(FBN2):c.7471+6G>A

SNV
Germline

Chr5:128277874

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323567

rs_200998513

10 SubmittersRCV000199023 RCV000460061 RCV001579980 RCV004017478

NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)

SNV
Germline

Chr5:128277946

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA321235

rs_863223546

3 SubmittersRCV000196818 RCV000537713

NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser)

SNV
Germline

Chr5:128277951

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320191

rs_562508529

3 SubmittersRCV000195816 RCV002517178 RCV004822011

NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile)

SNV
Germline

Chr5:128278649

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA320225

rs_201883128

2 SubmittersRCV000195847 RCV001853147

NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys)

SNV
Germline

Chr5:128280245

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA321309

rs_771718967

3 SubmittersRCV001298201 RCV000196890 RCV004745265

NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys)

SNV
Germline

Chr5:128280273

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA320450

rs_863223586

2 SubmittersRCV000196051 RCV003640873

NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)

SNV
Germline

Chr5:128286784

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Craniosynostosis syndrome
Ehlers-Danlos syndrome
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322305

rs_201220519

11 SubmittersRCV000197843 RCV000469864 RCV000487809 RCV000581293 RCV002277536 RCV002277537 RCV002310791

NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn)

SNV
Germline

Chr5:128286820

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324911

rs_368802769

5 SubmittersRCV000200348 RCV000342918 RCV002315586

NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)

SNV
Germline

Chr5:128288476

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA324120

rs_863223612

3 SubmittersRCV000199574 RCV000633581

NM_001999.4(FBN2):c.6681A>G (p.Thr2227=)

SNV
Germline

Chr5:128288514

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA321576

rs_145681607

4 SubmittersRCV000197133 RCV002310789 RCV002515359 RCV003230446

NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser)

SNV
Germline

Chr5:128288537

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA322770

rs_863223582

2 SubmittersRCV000198259 RCV003525876

NM_001999.4(FBN2):c.6598A>G (p.Met2200Val)

SNV
Germline

Chr5:128289166

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA322515

rs_766808076

3 SubmittersRCV000198041 RCV000471326 RCV003401068

NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp)

SNV
Germline

Chr5:128289225

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321136

rs_537628586

3 SubmittersRCV000196714 RCV002517177 RCV004020359

NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)

SNV
Germline

Chr5:128290843

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323445

rs_141707850

3 SubmittersRCV000474999 RCV000198915 RCV002363008

NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)

SNV
Germline

Chr5:128300910

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA320255

rs_772994944

4 SubmittersRCV000195870 RCV002354549 RCV001493386

NM_001999.4(FBN2):c.5966G>A (p.Arg1989His)

SNV
Germline

Chr5:128301462

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322179

rs_189964478

3 SubmittersRCV000197720 RCV001053741 RCV002354544

NM_001999.4(FBN2):c.5800+5G>A

SNV
Germline

Chr5:128304952

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections
Familial thoracic aortic aneurysm and aortic dissection
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA322014

rs_375487064

7 SubmittersRCV000197552 RCV000528713 RCV000766976 RCV005237693 RCV002354548 RCV002500604

NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)

SNV
Germline

Chr5:128305924

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325435

rs_149537608

5 SubmittersRCV000200857 RCV001001181 RCV000352887 RCV004822013

NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)

SNV
Germline

Chr5:128309297

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA319964

rs_779202876

5 SubmittersRCV000195602 RCV000233352 RCV002345705

NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)

SNV
Germline

Chr5:128309325

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA323357

rs_201113098

4 SubmittersRCV000198829 RCV000463573 RCV002315585 RCV003987442

NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala)

SNV
Germline

Chr5:128312646

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321369

rs_139830237

3 SubmittersRCV000196944 RCV000819761 RCV004822012

NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)

SNV
Germline

Chr5:128312712

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323659

rs_762108847

4 SubmittersRCV000199119 RCV000302604 RCV005438359

NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)

SNV
Germline

Chr5:128312756

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA321323

rs_143195229

3 SubmittersRCV000196903 RCV000249340 RCV001853146

NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)

SNV
Germline

Chr5:128318224

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA323806

rs_140313460

6 SubmittersRCV000199274 RCV000863851 RCV002315584 RCV002277528

NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly)

SNV
Germline

Chr5:128328713

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Connective tissue disorder
Condition: not provided
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323073

rs_199665922

7 SubmittersRCV000261737 RCV000659620 RCV001721272 RCV003488450 RCV002310787

NM_001999.4(FBN2):c.4418G>A (p.Arg1473His)

SNV
Germline

Chr5:128328749

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320757

rs_140812463

5 SubmittersRCV000196344 RCV001002171 RCV000466570 RCV002277527 RCV004822010

NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)

SNV
Germline

Chr5:128330672

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA320889

rs_200837433

6 SubmittersRCV000196474 RCV000465479 RCV002315592 RCV003430751 RCV002277535

NM_001999.4(FBN2):c.4009A>G (p.Met1337Val)

SNV
Germline

Chr5:128334809

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324230

rs_776567929

3 SubmittersRCV000199686 RCV001307203 RCV005338103

NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)

SNV
Germline

Chr5:128335260

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324462

rs_759131544

4 SubmittersRCV000465682 RCV000199913 RCV000680528 RCV004619225

NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)

SNV
Germline

Chr5:128335463

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA324510

rs_200481467

6 SubmittersRCV000472155 RCV000513271 RCV002315591 RCV002277534

NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)

SNV
Germline

Chr5:128335497

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322231

rs_765649978

5 SubmittersRCV000531948 RCV000197758 RCV002363007

NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys)

SNV
Germline

Chr5:128335509

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321025

rs_776031352

3 SubmittersRCV000196600 RCV000814432 RCV004020358

NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)

SNV
Germline

Chr5:128336002

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
not specified
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA322240

rs_142185964

5 SubmittersRCV000726254 RCV001078545 RCV003323443 RCV003955183

NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)

SNV
Germline

Chr5:128336003

Conflicting classifications of pathogenicity

Condition: not provided
Macular degeneration, early-onset
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA319912

rs_746570981

4 SubmittersRCV000488072 RCV001195960 RCV002354546 RCV001857717

NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met)

SNV
Germline

Chr5:128336011

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA324005

rs_368105987

3 SubmittersRCV000199463 RCV002515358 RCV003390934

NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)

SNV
Germline

Chr5:128338002

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA321818

rs_863223567

3 SubmittersRCV000197367 RCV002336530 RCV003525874

NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)

SNV
Germline

Chr5:128338949

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA325155

rs_863223565

2 SubmittersRCV000200568 RCV002517176

NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly)

SNV
Germline

Chr5:128338963

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA322825

rs_764809572

3 SubmittersRCV000198329 RCV001265725 RCV001318629

NM_001999.4(FBN2):c.3401C>T (p.Thr1134Ile)

SNV
Germline

Chr5:128339004

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA319945

rs_863223602

2 SubmittersRCV000195591 RCV002515361

NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)

SNV
Germline

Chr5:128339011

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Connective tissue disorder
Macular degeneration, early-onset
Congenital contractural arachnodactyly
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320787

rs_138834515

9 SubmittersRCV000310235 RCV000513490 RCV000659611 RCV000768222 RCV004767139 RCV002310771

NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)

SNV
Germline

Chr5:128344432

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
not specified
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323174

rs_202050092

8 SubmittersRCV000198639 RCV000364863 RCV003330566 RCV002277524 RCV002310786

NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro)

SNV
Germline

Chr5:128344475

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA324185

rs_863223562

2 SubmittersRCV000199641 RCV000543229

NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr)

SNV
Germline

Chr5:128345365

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA320977

rs_139118782

3 SubmittersRCV000196552 RCV002515357

NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)

SNV
Germline

Chr5:128345425

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA324330

rs_150506063

3 SubmittersRCV000199772 RCV003640871 RCV002277523

NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln)

SNV
Germline

Chr5:128345429

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA322010

rs_771853346

2 SubmittersRCV000197546 RCV001853145

NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys)

SNV
Germline

Chr5:128345468

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA321770

rs_773473369

3 SubmittersRCV000197316 RCV003525879

NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys)

SNV
Germline

Chr5:128345513

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA323583

rs_541842635

7 SubmittersRCV000199048 RCV000659609 RCV001154223 RCV002277522 RCV002444792 RCV005055704

NM_001999.4(FBN2):c.3013T>C (p.Leu1005=)

SNV
Germline

Chr5:128345561

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322319

rs_147633551

7 SubmittersRCV000197856 RCV000727149 RCV001080372 RCV002315579

NM_001999.4(FBN2):c.2990-14C>T

SNV
Germline

Chr5:128345598

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA320774

rs_377500777

3 SubmittersRCV000196355 RCV000281793

NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)

SNV
Germline

Chr5:128350879

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
not specified
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA321404

rs_376194507

10 SubmittersRCV001721271 RCV000659608 RCV000705520 RCV002433877 RCV005237692 RCV003407699

NM_001999.4(FBN2):c.2719T>C (p.Cys907Arg)

SNV
Germline

Chr5:128350961

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA323568

rs_863223599

2 SubmittersRCV000199025 RCV001853149

NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)

SNV
Germline

Chr5:128351001

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA321566

rs_778473524

4 SubmittersRCV000197124 RCV002515356 RCV003319186

NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)

SNV
Germline

Chr5:128357299

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322791

rs_139035999

3 SubmittersRCV000198286 RCV001316692 RCV003243015

NM_001999.4(FBN2):c.2625T>C (p.Cys875=)

SNV
Germline

Chr5:128357325

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA324088

rs_371502563

8 SubmittersRCV000283683 RCV000199548 RCV002315578 RCV001706174 RCV002277504

NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)

SNV
Germline

Chr5:128361741

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA321237

rs_375666281

7 SubmittersRCV000405761 RCV001281014 RCV002315590 RCV001778783 RCV005431545

NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln)

SNV
Germline

Chr5:128361797

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321897

rs_150735582

4 SubmittersRCV000197430 RCV000206321 RCV005237691 RCV002310785

NM_001999.4(FBN2):c.2108G>A (p.Arg703His)

SNV
Germline

Chr5:128369322

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA325354

rs_567790419

3 SubmittersRCV000200771 RCV001296985 RCV003165447

NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)

SNV
Germline

Chr5:128369331

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
FBN2-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324674

rs_773667668

7 SubmittersRCV000200116 RCV001151277 RCV003401065 RCV002415837

NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)

SNV
Germline

Chr5:128376818

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA322315

rs_863223554

3 SubmittersRCV001207170 RCV000197851 RCV002310782

NM_001999.4(FBN2):c.1841A>T (p.Asn614Ile)

SNV
Germline

Chr5:128377760

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA319996

rs_770876270

2 SubmittersRCV000195634 RCV005089998

NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu)

SNV
Germline

Chr5:128378850

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA320126

rs_182651973

4 SubmittersRCV000195754 RCV000633592 RCV004822007

NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)

SNV
Germline

Chr5:128392078

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323681

rs_528255772

5 SubmittersRCV000199141 RCV001086834 RCV002277520 RCV004619224

NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)

SNV
Germline

Chr5:128392095

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA321340

rs_199587570

4 SubmittersRCV000196921 RCV001729450 RCV002311054

NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)

SNV
Germline

Chr5:128393165

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323822

rs_147346327

5 SubmittersRCV000199291 RCV000286121 RCV000766966 RCV002311053

NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg)

SNV
Germline

Chr5:128393177

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA320612

rs_200440156

2 SubmittersRCV000196187 RCV001857718

NM_001999.4(FBN2):c.809G>A (p.Arg270His)

SNV
Germline

Chr5:128464741

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324848

rs_148971572

5 SubmittersRCV000200299 RCV001088333 RCV001818465 RCV003298254

NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)

SNV
Germline

Chr5:128464763

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA320328

rs_151329128

4 SubmittersRCV000195945 RCV002315589 RCV001853148 RCV004745266

NM_001999.4(FBN2):c.733C>T (p.Arg245Trp)

SNV
Germline

Chr5:128464817

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA323712

rs_146941428

2 SubmittersRCV000199182 RCV000459579

NM_001999.4(FBN2):c.377G>A (p.Arg126His)

SNV
Germline

Chr5:128530654

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA321481

rs_528614556

5 SubmittersRCV000197044 RCV001473209 RCV002277538 RCV004822014 RCV003323445

NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)

SNV
Germline

Chr5:128537387

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323258

rs_148493036

3 SubmittersRCV000198722 RCV001484140 RCV002310781

NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)

SNV
Germline

Chr5:128537402

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA320907

rs_767317022

4 SubmittersRCV000196494 RCV004020357 RCV001853141

NM_001999.4(FBN2):c.157G>A (p.Gly53Ser)

SNV
Germline

Chr5:128537447

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
not specified
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA324262

rs_146807421

6 SubmittersRCV000199714 RCV000555367 RCV002399724 RCV003330565 RCV002277519

NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)

SNV
Germline

Chr5:128537479

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA324396

rs_773011327

3 SubmittersRCV000199848 RCV000541110 RCV004822006

NM_001999.4(FBN2):c.76A>G (p.Thr26Ala)

SNV
Germline

Chr5:128537528

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome
FBN2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA322091

rs_374922166

8 SubmittersRCV000726832 RCV001083543 RCV002310779 RCV002277517 RCV003937723 RCV005406930

NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)

SNV
Germline

Chr5:128537536

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
FBN2-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA323989

rs_199560824

5 SubmittersRCV000294775 RCV001721270 RCV003417706 RCV002310770

NM_001999.4(FBN2):c.5917+9T>G

SNV
Germline

Chr5:128302964

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified
Condition: not provided
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA350049

rs_371439173

5 SubmittersRCV000205963 RCV000612271 RCV001812209 RCV003927877

NM_001999.4(FBN2):c.3344A>T (p.Asp1115Val)

SNV
Germline

Chr5:128339061

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA351839

rs_869025428

1 SubmittersRCV000208190

NM_001999.4(FBN2):c.1961G>A (p.Arg654His)

SNV
Germline

Chr5:128376742

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA077357

rs_780589159

4 SubmittersRCV000208169 RCV000420315 RCV000560706

NM_001999.4(FBN2):c.1849+8A>G

SNV
Germline

Chr5:128377744

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA078000

rs_747219934

2 SubmittersRCV000208212 RCV002054352

NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met)

SNV
Germline

Chr5:128287355

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA358193

rs_2307109

3 SubmittersRCV000210681 RCV000489643 RCV001439397

NM_001999.4(FBN2):c.7630C>T (p.Gln2544Ter)

SNV
Germline

Chr5:128274648

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360753408

rs_1085307066

1 SubmittersRCV000490469

NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu)

SNV
Germline

Chr5:128263559

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393943

rs_150734807

4 SubmittersRCV000221212 RCV000824483 RCV002417979 RCV005396736

NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)

SNV
Germline

Chr5:128344424

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395273

rs_761012607

4 SubmittersRCV000222225 RCV000701531 RCV002503876 RCV002450648

NM_001999.4(FBN2):c.3351C>T (p.Asp1117=)

SNV
Germline

Chr5:128339054

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395253

rs_78484531

6 SubmittersRCV000369172 RCV000726061 RCV001087913 RCV002310821

NM_001999.4(FBN2):c.404G>A (p.Gly135Glu)

SNV
Germline

Chr5:128530627

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3396126

rs_778566871

2 SubmittersRCV000226112 RCV001753694

NM_001999.4(FBN2):c.6512-3T>C

SNV
Germline

Chr5:128289255

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394381

rs_764271022

3 SubmittersRCV000242475 RCV001589253 RCV002518618

NM_001999.4(FBN2):c.2363G>A (p.Arg788His)

SNV
Germline

Chr5:128364665

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395570

rs_368116715

5 SubmittersRCV000247140 RCV000800520 RCV002446486 RCV003318568

NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)

SNV
Germline

Chr5:128259681

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA3393796

rs_772928933

3 SubmittersRCV000251288 RCV002518998 RCV004689695

NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)

SNV
Germline

Chr5:128263582

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA10587595

rs_763870762

2 SubmittersRCV000252393 RCV001857853

NM_001999.4(FBN2):c.7879G>A (p.Gly2627Ser)

SNV
Germline

Chr5:128272080

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3393986

rs_369568420

3 SubmittersRCV002311140 RCV005090289 RCV005411391

NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)

SNV
Germline

Chr5:128277933

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
Macular degeneration, early-onset

Criteria Provided
Conflicting Classifications

CA3394128

rs_28763925

3 SubmittersRCV000475730 RCV002310888 RCV005031836

NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)

SNV
Germline

Chr5:128278768

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394178

rs_368506842

3 SubmittersRCV001152624 RCV002310846

NM_001999.4(FBN2):c.6638-2A>C

SNV
Germline

Chr5:128288559

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA10587601

rs_886039200

2 SubmittersRCV002311226 RCV005090293

NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys)

SNV
Germline

Chr5:128286741

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA10587602

rs_886038992

2 SubmittersRCV002310933 RCV001859454

NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)

SNV
Germline

Chr5:128300906

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394502

rs_139668142

5 SubmittersRCV000244909 RCV000765798 RCV000685075 RCV001589297

NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile)

SNV
Germline

Chr5:128328765

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394971

rs_199668238

2 SubmittersRCV002311199 RCV001854996

NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)

SNV
Germline

Chr5:128311895

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10587610

rs_773597432

3 SubmittersRCV000757289 RCV001859446 RCV003165698

NM_001999.4(FBN2):c.4407G>A (p.Pro1469=)

SNV
Germline

Chr5:128328760

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394969

rs_546172367

3 SubmittersRCV000807074 RCV001812757 RCV002310860

NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)

SNV
Germline

Chr5:128350903

Conflicting classifications of pathogenicity

Connective tissue disorder
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA10587613

rs_138429045

4 SubmittersRCV000659607 RCV002310916 RCV001315396 RCV004745315

NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)

SNV
Germline

Chr5:128378774

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395739

rs_768073096

4 SubmittersRCV000810490 RCV000765802 RCV002310870 RCV004692879

NM_001999.4(FBN2):c.2978G>A (p.Arg993His)

SNV
Germline

Chr5:128349358

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395382

rs_774483323

4 SubmittersRCV000688887 RCV001561136 RCV002310935

NM_001999.4(FBN2):c.3342G>A (p.Thr1114=)

SNV
Germline

Chr5:128344386

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA3395268

rs_532983875

4 SubmittersRCV000247075 RCV001651299 RCV002518999 RCV003330609

NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu)

SNV
Germline

Chr5:128357393

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395498

rs_148598779

3 SubmittersRCV000765800 RCV002518725 RCV002311174

NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)

SNV
Germline

Chr5:128393177

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Congenital contractural arachnodactyly
Macular degeneration, early-onset

Criteria Provided
Conflicting Classifications

CA3395804

rs_200440156

5 SubmittersRCV000322354 RCV002311200 RCV004591109 RCV002487162

NM_001999.4(FBN2):c.362A>G (p.Asp121Gly)

SNV
Germline

Chr5:128530669

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396130

rs_770483769

3 SubmittersRCV000493996 RCV001323582 RCV002311101

NM_001999.4(FBN2):c.1194C>T (p.Ile398=)

SNV
Germline

Chr5:128395159

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395863

rs_766004910

4 SubmittersRCV000319990 RCV002311107 RCV002518715

NM_001999.4(FBN2):c.523T>C (p.Cys175Arg)

SNV
Germline

Chr5:128527881

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
FBN2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10587619

rs_886038942

4 SubmittersRCV002310859 RCV002518699 RCV004745314 RCV004721324

NM_001999.4(FBN2):c.244G>A (p.Val82Met)

SNV
Germline

Chr5:128537360

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396199

rs_550387143

2 SubmittersRCV002518726 RCV002311175

NM_001999.4(FBN2):c.2084G>A (p.Arg695His)

SNV
Germline

Chr5:128374639

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395657

rs_143722436

2 SubmittersRCV000265983 RCV000557220

NM_001999.4(FBN2):c.3162C>T (p.Arg1054=)

SNV
Germline

Chr5:128345412

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA10604974

rs_765015874

3 SubmittersRCV000269042 RCV004619243 RCV005090354

NM_001999.4(FBN2):c.2555-6T>C

SNV
Germline

Chr5:128357401

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Congenital heart disease

Criteria Provided
Conflicting Classifications

CA3395501

rs_376507178

5 SubmittersRCV000270719 RCV001483216 RCV005625508

NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser)

SNV
Germline

Chr5:128286748

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Macular degeneration, early-onset
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA3394257

rs_199910288

9 SubmittersRCV000290426 RCV000696153 RCV002374485 RCV001199020 RCV000659629

NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)

SNV
Germline

Chr5:128334838

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395077

rs_762567430

3 SubmittersRCV000287645 RCV005572305

NM_001999.4(FBN2):c.2901A>G (p.Pro967=)

SNV
Germline

Chr5:128349435

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395398

rs_185991527

3 SubmittersRCV000278254 RCV004822039

NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)

SNV
Germline

Chr5:128259818

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Condition: not provided
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA3393820

rs_142747169

10 SubmittersRCV000274441 RCV000765797 RCV000998425 RCV002278581 RCV002436212 RCV004782370

NM_001999.4(FBN2):c.6591A>G (p.Glu2197=)

SNV
Germline

Chr5:128289173

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10620109

rs_886059895

2 SubmittersRCV000312485 RCV004021982

NM_001999.4(FBN2):c.6167-4G>A

SNV
Germline

Chr5:128291658

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome
not specified

Criteria Provided
Conflicting Classifications

CA3394478

rs_370981323

6 SubmittersRCV000265109 RCV001706571 RCV002356481 RCV002278582 RCV004526669

NM_001999.4(FBN2):c.3752G>A (p.Gly1251Glu)

SNV
Germline

Chr5:128335550

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395141

rs_767644891

3 SubmittersRCV000404981 RCV003144239

NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)

SNV
Germline

Chr5:128344451

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3395279

rs_747248488

4 SubmittersRCV000270212 RCV003480616 RCV005431636

NM_001999.4(FBN2):c.2214A>T (p.Gly738=)

SNV
Germline

Chr5:128369216

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395617

rs_201548788

4 SubmittersRCV000369065 RCV000861517 RCV002314072

NM_001999.4(FBN2):c.1078+12A>C

SNV
Germline

Chr5:128408662

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA3395899

rs_769211487

3 SubmittersRCV000346122 RCV000445303

NM_001999.4(FBN2):c.645G>T (p.Pro215=)

SNV
Germline

Chr5:128464905

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA10622492

rs_764473594

2 SubmittersRCV000354446

NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn)

SNV
Germline

Chr5:128286736

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10622577

rs_886059894

5 SubmittersRCV000320784 RCV001591013 RCV004619273

NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)

SNV
Germline

Chr5:128349434

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395397

rs_774248421

5 SubmittersRCV000372584 RCV000756154 RCV002436213

NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)

SNV
Germline

Chr5:128378809

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA10622602

rs_886059902

2 SubmittersRCV000261445

NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala)

SNV
Germline

Chr5:128274620

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394055

rs_764514988

2 SubmittersRCV000414132 RCV003640889

NM_001999.4(FBN2):c.5678G>A (p.Arg1893His)

SNV
Germline

Chr5:128305079

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394620

rs_368384428

3 SubmittersRCV000697612 RCV000412718 RCV001591050

NM_001999.4(FBN2):c.2945G>T (p.Cys982Phe)

SNV
Germline

Chr5:128349391

Conflicting classifications of pathogenicity

Marfan syndrome
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA16044044

rs_1057519321

2 SubmittersRCV000416376 RCV001861464

NM_000138.5(FBN1):c.6004C>T (p.Pro2002Ser)

SNV
Unknown

Chr15:48444574

Likely pathogenic

Marfan syndrome
Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA16044046

rs_1057519320

1 SubmittersRCV000416355

NM_001999.4(FBN2):c.488A>G (p.His163Arg)

SNV
Germline

Chr5:128527916

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA16604692

rs_1029299660

3 SubmittersRCV000434872 RCV002313106 RCV003766340

NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)

SNV
Germline

Chr5:128330620

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395008

rs_143462011

6 SubmittersRCV000426400 RCV000659619 RCV000799857 RCV002279203 RCV002328978

NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu)

SNV
Germline

Chr5:128344406

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly
Macular degeneration, early-onset

Criteria Provided
Conflicting Classifications

CA3395269

rs_148127874

3 SubmittersRCV000417646 RCV001341315 RCV002480312

NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)

SNV
Germline

Chr5:128366427

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA3395597

rs_147610681

7 SubmittersRCV000438877 RCV000526169 RCV000765801 RCV002278670 RCV002446667 RCV004800405

NM_001999.4(FBN2):c.2013G>A (p.Gly671=)

SNV
Germline

Chr5:128374710

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395673

rs_778762668

4 SubmittersRCV000419143 RCV000727006 RCV001442055 RCV002418329

NM_001999.4(FBN2):c.4472-11A>T

SNV
Germline

Chr5:128319012

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394927

rs_528062851

5 SubmittersRCV000444280 RCV001152835 RCV005230322

NM_001999.4(FBN2):c.8192+6G>A

SNV
Germline

Chr5:128263419

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393900

rs_752575354

2 SubmittersRCV000418958 RCV001345022

NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys)

SNV
Germline

Chr5:128301463

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394535

rs_758369648

2 SubmittersRCV000444112 RCV003640899

NM_001999.4(FBN2):c.5201-3T>C

SNV
Germline

Chr5:128309402

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA16605259

rs_1057521162

2 SubmittersRCV000428673 RCV002525331

NM_001999.4(FBN2):c.3848-10G>A

SNV
Germline

Chr5:128335305

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
FBN2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395113

rs_140017238

5 SubmittersRCV000423562 RCV000633641 RCV002278657 RCV003950352 RCV005230321

NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp)

SNV
Germline

Chr5:128378843

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395748

rs_138389072

3 SubmittersRCV000433947 RCV002313150 RCV002525519

NM_001999.4(FBN2):c.7533G>T (p.Gly2511=)

SNV
Germline

Chr5:128276099

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16611681

rs_1060503502

2 SubmittersRCV000457799 RCV002393160

NM_001999.4(FBN2):c.4285C>A (p.Pro1429Thr)

SNV
Germline

Chr5:128330633

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA16611686

rs_1060503511

1 SubmittersRCV000475898

NM_001999.4(FBN2):c.4306T>C (p.Cys1436Arg)

SNV
Germline

Chr5:128330612

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA16611713

rs_1060503510

1 SubmittersRCV000468381

NM_001999.4(FBN2):c.4222+1G>A

SNV
Germline

Chr5:128332911

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA16611716

rs_1060503498

1 SubmittersRCV000459072

NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)

SNV
Germline

Chr5:128339001

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395247

rs_772041342

4 SubmittersRCV000459625 RCV003380580 RCV003221992

NM_001999.4(FBN2):c.2375G>A (p.Arg792His)

SNV
Germline

Chr5:128364653

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA3395568

rs_374031658

3 SubmittersRCV000475373 RCV002451132 RCV003942496

NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu)

SNV
Germline

Chr5:128395214

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395874

rs_139189178

2 SubmittersRCV000461176 RCV001797091

NM_001999.4(FBN2):c.734G>A (p.Arg245Gln)

SNV
Germline

Chr5:128464816

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396017

rs_747507457

3 SubmittersRCV000461031 RCV005338185

NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)

SNV
Germline

Chr5:128280272

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA3394227

rs_775905979

2 SubmittersRCV000473008 RCV001001161

NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile)

SNV
Germline

Chr5:128303036

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394570

rs_763393398

2 SubmittersRCV000457348 RCV002056714

NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)

SNV
Germline

Chr5:128336002

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified

Criteria Provided
Conflicting Classifications

CA3395166

rs_142185964

4 SubmittersRCV000462832 RCV001770358 RCV002313179 RCV005434941

NM_001999.4(FBN2):c.2717G>A (p.Arg906His)

SNV
Germline

Chr5:128350963

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395466

rs_370973542

6 SubmittersRCV000476271 RCV001566251 RCV002429546 RCV004782388 RCV005398638

NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)

SNV
Germline

Chr5:128280193

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA3394222

rs_765676702

5 SubmittersRCV000463820 RCV002313234 RCV001153899 RCV005056043

NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)

SNV
Germline

Chr5:128330590

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA3395004

rs_751400994

6 SubmittersRCV000466168 RCV003323550 RCV002056715 RCV002329074 RCV004745406

NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)

SNV
Germline

Chr5:128395202

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395870

rs_371826887

2 SubmittersRCV000474036 RCV001764448

NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)

SNV
Germline

Chr5:128464744

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3396003

rs_771008563

2 SubmittersRCV000462092 RCV004767276

NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)

SNV
Germline

Chr5:128305076

Conflicting classifications of pathogenicity

Condition: not provided
Ehlers-Danlos syndrome
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394619

rs_750837082

3 SubmittersRCV000484526 RCV002279250 RCV002526987

NM_001999.4(FBN2):c.115C>G (p.Arg39Gly)

SNV
Germline

Chr5:128537489

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA16618113

rs_763202121

2 SubmittersRCV000480894 RCV002525965

NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)

SNV
Germline

Chr5:128464747

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA3396004

rs_760817242

5 SubmittersRCV000488222 RCV000795229 RCV002413344 RCV002279252

NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg)

SNV
Germline

Chr5:128278718

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394170

rs_764759689

3 SubmittersRCV000489631 RCV002383939 RCV002526022

NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp)

SNV
Germline

Chr5:128393209

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395812

rs_748584140

2 SubmittersRCV000489073 RCV002523415

NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)

SNV
Germline

Chr5:128537555

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360763286

rs_1085307788

2 SubmittersRCV000489370 RCV002527031

NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)

SNV
Germline

Chr5:128276155

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394103

rs_779483120

3 SubmittersRCV001087286 RCV000755537

NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)

SNV
Germline

Chr5:128300890

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA446309260

rs_1131691293

2 SubmittersRCV002524017 RCV000493271

NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu)

SNV
Germline

Chr5:128395250

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395883

rs_562268545

3 SubmittersRCV000493208 RCV005338200 RCV001068745

NM_001999.4(FBN2):c.827-19A>G

SNV
Germline

Chr5:128446625

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395974

rs_199559284

2 SubmittersRCV000507588 RCV002524915

NM_001999.4(FBN2):c.3973G>A (p.Asp1325Asn)

SNV
Germline

Chr5:128335170

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360757283

rs_1554122802

1 SubmittersRCV000515790

NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn)

SNV
Germline

Chr5:128278778

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394180

rs_758124873

2 SubmittersRCV000522353 RCV003766960

NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser)

SNV
Germline

Chr5:128290848

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA127034772

rs_1016100479

3 SubmittersRCV000521904 RCV001858027 RCV004822088

NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe)

SNV
Germline

Chr5:128305583

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394659

rs_150931558

3 SubmittersRCV000523867 RCV001224815 RCV004619311

NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)

SNV
Germline

Chr5:128312789

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394865

rs_776040052

4 SubmittersRCV000518903 RCV001306832 RCV002314909

NM_001999.4(FBN2):c.4222+5G>A

SNV
Germline

Chr5:128332907

Pathogenic

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA658657486

rs_1554122550

2 SubmittersRCV000519448 RCV002525118

NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)

SNV
Germline

Chr5:128338011

Conflicting classifications of pathogenicity

Condition: not provided
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395197

rs_751600209

3 SubmittersRCV000522133 RCV000768220 RCV002527580

NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)

SNV
Germline

Chr5:128338061

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395204

rs_771385579

2 SubmittersRCV000522475 RCV002528259

NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)

SNV
Germline

Chr5:128369232

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395618

rs_745528502

3 SubmittersRCV000520100 RCV002420314 RCV001240363

NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)

SNV
Germline

Chr5:128339053

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360760082

rs_1348701377

2 SubmittersRCV000556628 RCV003105946

NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp)

SNV
Germline

Chr5:128261870

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3393871

rs_752138290

4 SubmittersRCV000540491 RCV001764541 RCV002497079 RCV004023794

NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg)

SNV
Germline

Chr5:128335566

Pathogenic/Likely pathogenic

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA360758140

rs_1554122857

2 SubmittersRCV000556027 RCV002314952

NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys)

SNV
Germline

Chr5:128338114

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360759585

rs_1554123065

5 SubmittersRCV000549680 RCV000765799 RCV001090286

NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)

SNV
Germline

Chr5:128344438

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395275

rs_765437414

2 SubmittersRCV000536277 RCV001591205

NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)

SNV
Germline

Chr5:128377867

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Ehlers-Danlos syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395726

rs_371046485

5 SubmittersRCV000531266 RCV001575606 RCV002279337 RCV003488662 RCV005328299

NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu)

SNV
Germline

Chr5:128393182

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395806

rs_376096770

2 SubmittersRCV000542787 RCV004822093

NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)

SNV
Germline

Chr5:128395262

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395884

rs_762615993

3 SubmittersRCV000528526 RCV003441919 RCV005328298

NM_001999.4(FBN2):c.7012+6C>T

SNV
Germline

Chr5:128286712

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
not specified
FBN2-related disorder
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394248

rs_749376421

6 SubmittersRCV000560785 RCV001712491 RCV003330755 RCV004745447 RCV003224319

NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly)

SNV
Germline

Chr5:128393267

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395820

rs_143515269

2 SubmittersRCV000542007 RCV001797099

NM_001999.4(FBN2):c.6055G>A (p.Glu2019Lys)

SNV
Germline

Chr5:128300928

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360766610

rs_1554119321

2 SubmittersRCV000525229

NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)

SNV
Germline

Chr5:128305876

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Connective tissue disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
not specified
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA3394683

rs_140276399

8 SubmittersRCV000559761 RCV000659626 RCV000998428 RCV002350201 RCV003994001 RCV004722878

NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)

SNV
Germline

Chr5:128338084

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395207

rs_775844150

3 SubmittersRCV000525560 RCV003231526 RCV005572333

NM_001999.4(FBN2):c.3472+1G>A

SNV
Germline

Chr5:128338932

Likely pathogenic

Congenital contractural arachnodactyly
FBN2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA360759716

rs_1554123136

2 SubmittersRCV000537065 RCV003409774

NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)

SNV
Germline

Chr5:128344448

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395277

rs_758659538

5 SubmittersRCV000560109 RCV001573843

NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp)

SNV
Germline

Chr5:128349393

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395389

rs_142249689

2 SubmittersRCV000545913 RCV002438317

NM_001999.4(FBN2):c.195G>A (p.Glu65=)

SNV
Germline

Chr5:128537409

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396205

rs_750055830

4 SubmittersRCV000543896 RCV001811036 RCV002420378

NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)

SNV
Germline

Chr5:128305877

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394684

rs_778519094

4 SubmittersRCV000576804 RCV002483546 RCV001551500

NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys)

SNV
Germline

Chr5:128338081

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759437

rs_138303817

1 SubmittersRCV000576844

NM_001999.4(FBN2):c.6153C>T (p.Ser2051=)

SNV
Germline

Chr5:128300830

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA127043151

rs_888075207

2 SubmittersRCV000579305 RCV001069444

NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys)

SNV
Germline

Chr5:128345429

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360762980

rs_771853346

2 SubmittersRCV000591088 RCV001038947

NM_001999.4(FBN2):c.93G>T (p.Gln31His)

SNV
Germline

Chr5:128537511

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3396229

rs_371491169

3 SubmittersRCV001355213 RCV001472308

NM_001999.4(FBN2):c.3847+5A>G

SNV
Germline

Chr5:128335450

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA562715421

rs_1444917250

2 SubmittersRCV000607508 RCV003525928

NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)

SNV
Germline

Chr5:128280245

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394224

rs_771718967

3 SubmittersRCV001053182 RCV002313341 RCV001572264

NM_001999.4(FBN2):c.6833C>A (p.Thr2278Lys)

SNV
Germline

Chr5:128287355

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360759591

rs_2307109

3 SubmittersRCV002314186 RCV003892397 RCV005091779

NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)

SNV
Germline

Chr5:128312750

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA3394860

rs_202218356

5 SubmittersRCV000696433 RCV003144399 RCV002313304 RCV003980202

NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)

SNV
Germline

Chr5:128312756

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394863

rs_143195229

3 SubmittersRCV003767805 RCV002223886 RCV002313346

NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala)

SNV
Germline

Chr5:128334722

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395066

rs_768722316

2 SubmittersRCV000796525 RCV002313302

NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)

SNV
Germline

Chr5:128335224

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA127008422

rs_922751471

3 SubmittersRCV001770551 RCV001345957 RCV002313289

NM_001999.4(FBN2):c.3719G>A (p.Cys1240Tyr)

SNV
Germline

Chr5:128335993

Likely pathogenic

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA360758191

rs_1554122896

2 SubmittersRCV001220794 RCV002313315

NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)

SNV
Germline

Chr5:128369269

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395621

rs_149733159

3 SubmittersRCV002313294 RCV000704167 RCV002269291

NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)

SNV
Germline

Chr5:128392068

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395775

rs_748051713

2 SubmittersRCV001227242 RCV002313303

NM_001999.4(FBN2):c.672G>T (p.Met224Ile)

SNV
Germline

Chr5:128464878

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3396030

rs_371292311

3 SubmittersRCV002313320 RCV000797105 RCV003226955

NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr)

SNV
Germline

Chr5:128519362

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360756260

rs_1554075372

3 SubmittersRCV002313307 RCV003411465 RCV005091784

NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)

SNV
Germline

Chr5:128374687

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395669

rs_760483684

7 SubmittersRCV000626246 RCV002420655 RCV001195376 RCV002223891

NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)

SNV
Germline

Chr5:128259750

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
FBN2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA3393803

rs_757028268

7 SubmittersRCV000633580 RCV000765796 RCV002448951 RCV003117441 RCV004745514 RCV004767455

NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)

SNV
Germline

Chr5:128302991

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394562

rs_369652475

2 SubmittersRCV000633640 RCV003162815

NM_001999.4(FBN2):c.4056T>G (p.Cys1352Trp)

SNV
Germline

Chr5:128334762

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360756957

rs_1479056828

1 SubmittersRCV000633606

NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)

SNV
Germline

Chr5:128261798

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA360747381

rs_1262933234

2 SubmittersRCV000633584 RCV003403450

NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu)

SNV
Germline

Chr5:128274623

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360753269

rs_1473525001

3 SubmittersRCV001451612 RCV004025428 RCV004768483

NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)

SNV
Germline

Chr5:128290739

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394422

rs_772832233

4 SubmittersRCV000633636 RCV003302998 RCV003311866

NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys)

SNV
Germline

Chr5:128301421

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Neurodevelopmental abnormality
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA127043821

rs_995323393

3 SubmittersRCV000633609 RCV001264672 RCV002358774

NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)

SNV
Germline

Chr5:128357393

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395499

rs_148598779

3 SubmittersRCV000633583 RCV000659606 RCV001554961

NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)

SNV
Germline

Chr5:128309333

Conflicting classifications of pathogenicity

Connective tissue disorder
Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394740

rs_760065931

5 SubmittersRCV000659624 RCV000701841 RCV002509494 RCV003163037

NM_001999.4(FBN2):c.5045A>C (p.Tyr1682Ser)

SNV
Germline

Chr5:128311329

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394808

rs_769474473

4 SubmittersRCV000659623 RCV001545405 RCV003163036 RCV001868176

NM_001999.4(FBN2):c.3718T>G (p.Cys1240Gly)

SNV
Germline

Chr5:128335994

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360758196

rs_1554122897

1 SubmittersRCV000659615

NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)

SNV
Germline

Chr5:128338938

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA360759746

rs_1206843725

2 SubmittersRCV000659613

NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)

SNV
Germline

Chr5:128364669

Conflicting classifications of pathogenicity

Connective tissue disorder
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395573

rs_756348656

3 SubmittersRCV000659603 RCV001347222 RCV005231251

NM_001999.4(FBN2):c.1897A>G (p.Ile633Val)

SNV
Germline

Chr5:128376806

Conflicting classifications of pathogenicity

Connective tissue disorder
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395698

rs_748419325

2 SubmittersRCV000659600 RCV002534323

NM_001999.4(FBN2):c.827-2A>G

SNV
Germline

Chr5:128446608

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360752167

rs_1561461125

1 SubmittersRCV000679985

NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)

SNV
Germline

Chr5:128286744

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360758778

rs_370804151

2 SubmittersRCV000689925 RCV000998427

NM_001999.4(FBN2):c.6584G>A (p.Arg2195His)

SNV
Germline

Chr5:128289180

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394368

rs_144887443

2 SubmittersRCV000700379 RCV003222110

NM_001999.4(FBN2):c.5917+5G>A

SNV
Germline

Chr5:128302968

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA891842681

rs_1561758622

1 SubmittersRCV000703551

NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser)

SNV
Germline

Chr5:128305525

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394647

rs_745759959

2 SubmittersRCV000702523 RCV001766543

NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser)

SNV
Germline

Chr5:128338941

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395236

rs_150224718

4 SubmittersRCV000686364 RCV001562730 RCV002493147 RCV004026233

NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu)

SNV
Germline

Chr5:128278674

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394162

rs_755134019

2 SubmittersRCV000693085 RCV001811444

NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile)

SNV
Germline

Chr5:128286770

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394260

rs_780214155

2 SubmittersRCV000705960 RCV004822186

NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn)

SNV
Germline

Chr5:128328714

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA3394964

rs_187786356

3 SubmittersRCV000699624 RCV002284430 RCV002279490

NM_001999.4(FBN2):c.73G>A (p.Gly25Ser)

SNV
Germline

Chr5:128537531

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396235

rs_763408652

3 SubmittersRCV000690148 RCV002477551 RCV004619383

NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp)

SNV
Germline

Chr5:128259526

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA127001774

rs_888064842

2 SubmittersRCV000698835 RCV002369908

NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)

SNV
Germline

Chr5:128263449

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3393903

rs_746473847

3 SubmittersRCV000691189 RCV002051886

NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln)

SNV
Germline

Chr5:128309375

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394749

rs_774411234

3 SubmittersRCV000689411 RCV004026328

NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)

SNV
Germline

Chr5:128289135

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394359

rs_745396297

2 SubmittersRCV000705130 RCV002360822

NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)

SNV
Germline

Chr5:128345512

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395338

rs_139620380

5 SubmittersRCV000689482 RCV002279486 RCV002223908

NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)

SNV
Germline

Chr5:128278733

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394174

rs_755437836

2 SubmittersRCV000756155 RCV001053464

NM_001999.4(FBN2):c.842A>G (p.Gln281Arg)

SNV
Germline

Chr5:128446591

Conflicting classifications of pathogenicity

High myopia
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395968

rs_773505261

3 SubmittersRCV000785671 RCV005092195 RCV004783849

NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)

SNV
Germline

Chr5:128378884

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127024438

rs_565227443

3 SubmittersRCV000766257 RCV004721584

NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)

SNV
Germline

Chr5:128259598

Conflicting classifications of pathogenicity

Condition: not provided
Macular degeneration, early-onset
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3393778

rs_752201545

4 SubmittersRCV001552287 RCV000784953 RCV000784952 RCV002442606

NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)

SNV
Germline

Chr5:128408691

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395904

rs_761066631

2 SubmittersRCV001856227 RCV000788679

NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)

SNV
Germline

Chr5:128261795

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3393856

rs_372206279

2 SubmittersRCV000797083 RCV002424829

NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn)

SNV
Germline

Chr5:128261846

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3393865

rs_529742815

2 SubmittersRCV000823424 RCV002427071

NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)

SNV
Germline

Chr5:128274578

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394047

rs_150672907

3 SubmittersRCV000800017 RCV002397607

NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)

SNV
Germline

Chr5:128286744

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394256

rs_370804151

5 SubmittersRCV000799091 RCV001811490 RCV002360943

NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)

SNV
Germline

Chr5:128286834

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394270

rs_756798856

2 SubmittersRCV000807792 RCV002462170

NM_001999.4(FBN2):c.6558A>G (p.Gln2186=)

SNV
Germline

Chr5:128289206

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394373

rs_757216544

3 SubmittersRCV000806070 RCV001759542 RCV004619421

NM_001999.4(FBN2):c.3967T>G (p.Cys1323Gly)

SNV
Germline

Chr5:128335176

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360757295

rs_1581223990

1 SubmittersRCV000793416

NM_001999.4(FBN2):c.3491G>A (p.Arg1164His)

SNV
Germline

Chr5:128338104

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360759539

rs_1297011367

3 SubmittersRCV000797580 RCV005240583 RCV003236845

NM_001999.4(FBN2):c.3259G>C (p.Gly1087Arg)

SNV
Germline

Chr5:128344469

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360762142

rs_1581230766

1 SubmittersRCV000807549

NM_001999.4(FBN2):c.1411G>A (p.Val471Ile)

SNV
Germline

Chr5:128393189

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395807

rs_138046782

5 SubmittersRCV000823481 RCV003307563 RCV004693400

NM_001999.4(FBN2):c.788G>A (p.Arg263Gln)

SNV
Germline

Chr5:128464762

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3396006

rs_769593495

2 SubmittersRCV000822378 RCV004702461

NM_001999.4(FBN2):c.4222+10C>A

SNV
Germline

Chr5:128332902

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA127006920

rs_376700480

3 SubmittersRCV000827752 RCV001078599 RCV002279553

NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)

SNV
Germline

Chr5:128274618

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394052

rs_775848753

4 SubmittersRCV000865296 RCV003169116 RCV003965692 RCV005231419

NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)

SNV
Germline

Chr5:128311919

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA446307479

rs_1482008222

3 SubmittersRCV000866124 RCV001156519

NM_001999.4(FBN2):c.6293-8T>A

SNV
Germline

Chr5:128290892

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Ehlers-Danlos syndrome
not specified

Criteria Provided
Conflicting Classifications

CA3394441

rs_375682913

3 SubmittersRCV001412532 RCV002279576 RCV003994140

NM_001999.4(FBN2):c.8192+7C>T

SNV
Germline

Chr5:128263418

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393899

rs_376135657

2 SubmittersRCV000998426 RCV001324088

NM_001999.4(FBN2):c.6881-5T>G

SNV
Germline

Chr5:128286854

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394276

rs_772186151

3 SubmittersRCV001002264 RCV002551693 RCV003380801

NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)

SNV
Germline

Chr5:128303035

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394569

rs_372879535

3 SubmittersRCV001001085 RCV001066192 RCV001027824

NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)

SNV
Germline

Chr5:128273939

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394026

rs_146316163

2 SubmittersRCV001044925 RCV003226998

NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val)

SNV
Germline

Chr5:128277955

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394131

rs_373370945

2 SubmittersRCV001055592 RCV001759802

NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp)

SNV
Germline

Chr5:128309992

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA360744350

rs_1476723489

2 SubmittersRCV001060701 RCV004822304

NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)

SNV
Germline

Chr5:128330621

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395009

rs_374493286

2 SubmittersRCV001061353 RCV001772283

NM_001999.4(FBN2):c.3986G>A (p.Cys1329Tyr)

SNV
Germline

Chr5:128334832

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360757240

rs_1750792792

1 SubmittersRCV001047518

NM_001999.4(FBN2):c.3769T>G (p.Cys1257Gly)

SNV
Germline

Chr5:128335533

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360758065

rs_1750812513

1 SubmittersRCV001065940

NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)

SNV
Germline

Chr5:128345413

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395315

rs_753760095

3 SubmittersRCV001053522 RCV002282441 RCV005572443

NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)

SNV
Germline

Chr5:128374682

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395668

rs_750406193

2 SubmittersRCV001039681 RCV005338515

NM_001999.4(FBN2):c.5549-8T>A

SNV
Germline

Chr5:128305644

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA563056167

rs_1339062362

2 SubmittersRCV001055215 RCV001585955

NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)

SNV
Germline

Chr5:128357312

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA3395488

rs_555682061

3 SubmittersRCV001072138 RCV002276613

NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)

SNV
Germline

Chr5:128278642

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA3394154

rs_751824761

4 SubmittersRCV001152623 RCV004619526 RCV004746256

NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)

SNV
Germline

Chr5:128301395

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA446309320

rs_749647897

2 SubmittersRCV001153998

NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)

SNV
Germline

Chr5:128305598

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360740531

rs_1192632165

3 SubmittersRCV001154850 RCV004777974

NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)

SNV
Germline

Chr5:128318258

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA446308207

rs_1176811808

2 SubmittersRCV001152833

NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)

SNV
Germline

Chr5:128318984

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394922

rs_150986564

3 SubmittersRCV001152834 RCV001799737

NM_001999.4(FBN2):c.1968T>C (p.Cys656=)

SNV
Germline

Chr5:128376735

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395694

rs_750685055

4 SubmittersRCV003433052 RCV001154340 RCV002418597

NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)

SNV
Germline

Chr5:128393347

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395835

rs_769840338

3 SubmittersRCV001155173 RCV005328542

NM_001999.4(FBN2):c.1157T>C (p.Met386Thr)

SNV
Germline

Chr5:128395196

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395869

rs_750949734

3 SubmittersRCV001155174 RCV005340648

NM_001999.4(FBN2):c.1143G>T (p.Gly381=)

SNV
Germline

Chr5:128395210

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA446306137

rs_749428195

2 SubmittersRCV001155175

NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)

SNV
Germline

Chr5:128464870

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3396028

rs_760247833

3 SubmittersRCV001151410 RCV003433044

NM_001999.4(FBN2):c.3218-13A>T

SNV
Germline

Chr5:128344523

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395290

rs_200543836

2 SubmittersRCV001151152

NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)

SNV
Germline

Chr5:128278806

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394186

rs_762730300

2 SubmittersRCV001221818 RCV004619564

NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)

SNV
Germline

Chr5:128290738

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394421

rs_370650204

2 SubmittersRCV001224771 RCV001812258

NM_001999.4(FBN2):c.4301G>C (p.Cys1434Ser)

SNV
Germline

Chr5:128330617

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360753978

rs_1750667332

1 SubmittersRCV001215872

NM_001999.4(FBN2):c.3484T>C (p.Cys1162Arg)

SNV
Germline

Chr5:128338111

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759566

rs_1750894751

1 SubmittersRCV001219040

NM_001999.4(FBN2):c.2384G>A (p.Cys795Tyr)

SNV
Germline

Chr5:128364644

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360768295

rs_1057524398

1 SubmittersRCV001215923

NM_001999.4(FBN2):c.6028G>C (p.Asp2010His)

SNV
Germline

Chr5:128301400

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360766684

rs_1749713036

1 SubmittersRCV001204497

NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu)

SNV
Germline

Chr5:128344468

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360762137

rs_1751115198

2 SubmittersRCV001203258

NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)

SNV
Germline

Chr5:128303071

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394574

rs_749907917

3 SubmittersRCV001228916 RCV002356980 RCV002264237

NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)

SNV
Germline

Chr5:128259657

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360745553

rs_200345491

2 SubmittersRCV001247566 RCV002290660

NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)

SNV
Germline

Chr5:128305547

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394652

rs_546148828

3 SubmittersRCV001247099 RCV005253765 RCV003166552

NM_001999.4(FBN2):c.4516T>C (p.Cys1506Arg)

SNV
Germline

Chr5:128318957

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360750589

rs_1750289332

2 SubmittersRCV001243670 RCV003442807

NM_001999.4(FBN2):c.1093A>G (p.Met365Val)

SNV
Germline

Chr5:128395260

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360751034

rs_1401325502

2 SubmittersRCV001246160 RCV005428150

NM_001999.4(FBN2):c.4346-2A>G

SNV
Germline

Chr5:128328823

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360753367

rs_587776518

1 SubmittersRCV001230303

NM_001999.4(FBN2):c.533-1G>C

SNV
Germline

Chr5:128519369

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360756301

rs_1756369186

1 SubmittersRCV001256186

NM_001999.4(FBN2):c.3466T>C (p.Cys1156Arg)

SNV
Germline

Chr5:128338939

Pathogenic/Likely pathogenic

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA360759755

rs_1750917259

3 SubmittersRCV003128085 RCV004017813

NM_001999.4(FBN2):c.3424T>C (p.Cys1142Arg)

SNV
Unknown

Chr5:128338981

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759920

rs_1750918931

1 SubmittersRCV001270844

NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly)

SNV
Germline

Chr5:128259519

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393770

rs_768293070

4 SubmittersRCV002447254 RCV001574931 RCV001871699

NM_001999.4(FBN2):c.3803G>T (p.Cys1268Phe)

SNV
Germline

Chr5:128335499

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360757986

rs_1750811749

1 SubmittersRCV001299697

NM_001999.4(FBN2):c.3803G>C (p.Cys1268Ser)

SNV
Germline

Chr5:128335499

Pathogenic/Likely pathogenic

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA360757987

rs_1750811749

2 SubmittersRCV004727098 RCV001300210

NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)

SNV
Germline

Chr5:128345482

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395330

rs_754884110

5 SubmittersRCV001294271 RCV002322183 RCV003120540

NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)

SNV
Germline

Chr5:128408784

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395919

rs_747748647

2 SubmittersRCV002274183 RCV001301722

NM_001999.4(FBN2):c.86A>C (p.Gln29Pro)

SNV
Germline

Chr5:128537518

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396232

rs_771712321

2 SubmittersRCV001303765 RCV004036288

NM_001999.4(FBN2):c.3680G>A (p.Cys1227Tyr)

SNV
Germline

Chr5:128336032

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360758269

rs_1750830797

2 SubmittersRCV001326009 RCV001751632

NM_001999.4(FBN2):c.220G>A (p.Val74Ile)

SNV
Germline

Chr5:128537384

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3396201

rs_779812100

3 SubmittersRCV001320094 RCV002431914 RCV002466660

NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys)

SNV
Germline

Chr5:128338968

Likely pathogenic

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360759892

rs_1750918319

4 SubmittersRCV001332073 RCV004597985

NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)

SNV
Germline

Chr5:128290744

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394424

rs_766271753

3 SubmittersRCV001338866 RCV001776205

NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)

SNV
Germline

Chr5:128291616

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA360764512

rs_1295335940

2 SubmittersRCV001337858 RCV002276695

NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)

SNV
Germline

Chr5:128335186

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395098

rs_769665538

2 SubmittersRCV001348278 RCV005562707

NM_001999.4(FBN2):c.704C>T (p.Thr235Met)

SNV
Germline

Chr5:128464846

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
FBN2-related disorder
Condition: not provided
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396023

rs_367767903

5 SubmittersRCV001346681 RCV003393990 RCV001773690 RCV002486413 RCV005572561

NM_001999.4(FBN2):c.251G>A (p.Arg84Gln)

SNV
Germline

Chr5:128537353

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3396197

rs_747084358

2 SubmittersRCV001342953 RCV001810725

NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)

SNV
Germline

Chr5:128334766

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127008180

rs_1039821634

2 SubmittersRCV001363878 RCV002223305

NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys)

SNV
Germline

Chr5:128335281

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395110

rs_371512923

2 SubmittersRCV001365153 RCV002357245

NM_001999.4(FBN2):c.6122G>A (p.Cys2041Tyr)

SNV
Germline

Chr5:128300861

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360766345

rs_2126833724

1 SubmittersRCV001378653

NM_001999.4(FBN2):c.7012+7G>C

SNV
Germline

Chr5:128286711

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA562714407

rs_199735209

2 SubmittersRCV001402955 RCV002276726

NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)

SNV
Germline

Chr5:128335179

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395096

rs_367614052

2 SubmittersRCV001413991 RCV005232323

NM_001999.4(FBN2):c.8364+7A>G

SNV
Germline

Chr5:128261729

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Ehlers-Danlos syndrome
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA127003543

rs_185052980

3 SubmittersRCV001471914 RCV001712906 RCV002276743 RCV002276744

NM_001999.4(FBN2):c.5800+10G>A

SNV
Germline

Chr5:128304947

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA126983092

rs_546373462

3 SubmittersRCV001458997 RCV004587160

NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)

SNV
Germline

Chr5:128330635

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395014

rs_367961012

3 SubmittersRCV001496601 RCV002329614 RCV004815534

NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)

SNV
Germline

Chr5:128286757

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394258

rs_751231315

2 SubmittersRCV001547826 RCV002568970

NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val)

SNV
Germline

Chr5:128278800

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394184

rs_141854054

3 SubmittersRCV001551272 RCV002370192 RCV003640967

NM_001999.4(FBN2):c.629-6T>C

SNV
Germline

Chr5:128464927

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA3396034

rs_757696693

3 SubmittersRCV001549779 RCV003640966 RCV005057501

NM_001999.4(FBN2):c.584G>A (p.Arg195His)

SNV
Germline

Chr5:128519317

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3396065

rs_746890032

2 SubmittersRCV001556056 RCV002032616

NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg)

SNV
Germline

Chr5:128369211

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA360738863

rs_1204171410

3 SubmittersRCV001564621 RCV001882664 RCV005341026

NM_001999.4(FBN2):c.3920G>A (p.Arg1307His)

SNV
Germline

Chr5:128335223

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395101

rs_139428175

2 SubmittersRCV001569968 RCV001866018

NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala)

SNV
Germline

Chr5:128408695

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
FBN2-related disorder
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395905

rs_149992874

4 SubmittersRCV001585382 RCV002072324 RCV003921250 RCV005564889

NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)

SNV
Germline

Chr5:128263479

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393914

rs_754101758

2 SubmittersRCV001663351 RCV003640979

NM_001999.4(FBN2):c.5673A>G (p.Val1891=)

SNV
Germline

Chr5:128305512

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA446306523

rs_746792907

2 SubmittersRCV001653323 RCV005094867

NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser)

SNV
Germline

Chr5:128301445

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394533

rs_145588052

3 SubmittersRCV001754154 RCV002032749 RCV002488503

NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu)

SNV
Germline

Chr5:128330632

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395013

rs_771467729

3 SubmittersRCV001756445 RCV002032763 RCV003298960

NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys)

SNV
Germline

Chr5:128338027

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395200

rs_755737169

2 SubmittersRCV001751849 RCV002539911

NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)

SNV
Germline

Chr5:128259621

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393785

rs_754475064

2 SubmittersRCV001773799 RCV002032822

NM_001999.4(FBN2):c.3611G>T (p.Cys1204Phe)

SNV
Germline

Chr5:128336101

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360758424

rs_2126898748

2 SubmittersRCV001772534 RCV002032866

NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)

SNV
Germline

Chr5:128393189

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395808

rs_138046782

2 SubmittersRCV001763135 RCV002538822

NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)

SNV
Germline

Chr5:128263474

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393910

rs_772569905

2 SubmittersRCV001765733 RCV003526099

NM_001999.4(FBN2):c.1525C>T (p.Arg509Cys)

SNV
Germline

Chr5:128392096

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395781

rs_775037345

2 SubmittersRCV001765288 RCV005094993

NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)

SNV
Germline

Chr5:128335266

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360757498

rs_1263059454

3 SubmittersRCV001767532 RCV002359242 RCV003771999

NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val)

SNV
Germline

Chr5:128335560

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395144

rs_144933639

2 SubmittersRCV001752807 RCV003640992

NM_001999.4(FBN2):c.82G>T (p.Gly28Cys)

SNV
Germline

Chr5:128537522

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3396233

rs_772841538

3 SubmittersRCV001769185 RCV001868585 RCV002425055

NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu)

SNV
Germline

Chr5:128274602

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394050

rs_770193908

3 SubmittersRCV001763986 RCV003526101

NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala)

SNV
Germline

Chr5:128276107

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394095

rs_752627315

2 SubmittersRCV002034641 RCV001794575

NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)

SNV
Germline

Chr5:128289246

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394377

rs_143054385

3 SubmittersRCV002542352 RCV001812566

NM_001999.4(FBN2):c.4296C>A (p.Tyr1432Ter)

SNV
Germline

Chr5:128330622

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360754001

rs_147046215

1 SubmittersRCV001808146

NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr)

SNV
Germline

Chr5:128300919

Conflicting classifications of pathogenicity

Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
not specified

Criteria Provided
Conflicting Classifications

CA3394507

rs_545524318

4 SubmittersRCV001843685 RCV002359278 RCV002034717 RCV004699487

NM_001999.4(FBN2):c.1643A>C (p.Asp548Ala)

SNV
Germline

Chr5:128378851

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395749

rs_757406333

4 SubmittersRCV002034866 RCV005057676 RCV005572647

NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser)

SNV
Germline

Chr5:128393200

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395811

rs_779849582

2 SubmittersRCV002224128 RCV001979586

NM_001999.4(FBN2):c.3298T>A (p.Cys1100Ser)

SNV
Germline

Chr5:128344430

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360761946

rs_2126912100

1 SubmittersRCV001984410

NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)

SNV
Germline

Chr5:128263572

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3393947

rs_370250073

2 SubmittersRCV001991794 RCV005343246

NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)

SNV
Germline

Chr5:128333031

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3395051

rs_28763942

2 SubmittersRCV002032343 RCV002324507

NM_001999.4(FBN2):c.3472+2T>C

SNV
Germline

Chr5:128338931

Pathogenic

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA360759709

rs_2126903614

2 SubmittersRCV001941718 RCV003481219

NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)

SNV
Germline

Chr5:128378828

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360743677

rs_1256710897

2 SubmittersRCV001945385 RCV002223325

NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser)

SNV
Germline

Chr5:128263492

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3393922

rs_145809527

2 SubmittersRCV001940263 RCV002224116

NM_001999.4(FBN2):c.3736T>G (p.Cys1246Gly)

SNV
Germline

Chr5:128335566

Pathogenic/Likely pathogenic

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA360758139

rs_1554122857

2 SubmittersRCV001975155 RCV004044394

NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser)

SNV
Germline

Chr5:128263632

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA3393957

rs_765867245

4 SubmittersRCV002048634 RCV003146488 RCV003941250

NM_001999.4(FBN2):c.809G>T (p.Arg270Leu)

SNV
Germline

Chr5:128464741

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
FBN2-related disorder

Criteria Provided
Conflicting Classifications

CA3396001

rs_148971572

3 SubmittersRCV001972111 RCV005565033 RCV004746528

NM_001999.4(FBN2):c.5801-5T>G

SNV
Germline

Chr5:128303094

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA3394583

rs_571282132

2 SubmittersRCV002019123 RCV002276969

NM_001999.4(FBN2):c.3632G>A (p.Cys1211Tyr)

SNV
Germline

Chr5:128336080

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA360758380

rs_2126898679

2 SubmittersRCV001999522 RCV003442996

NM_001999.4(FBN2):c.4184G>A (p.Cys1395Tyr)

SNV
Germline

Chr5:128332950

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360754841

rs_886038935

1 SubmittersRCV002011348

NM_001999.4(FBN2):c.3521G>A (p.Cys1174Tyr)

SNV
Germline

Chr5:128338074

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759412

rs_1581226080

1 SubmittersRCV002050144

NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys)

SNV
Germline

Chr5:128273960

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3394028

rs_377689621

2 SubmittersRCV002028258 RCV005002764

NM_001999.4(FBN2):c.4340G>A (p.Cys1447Tyr)

SNV
Germline

Chr5:128330578

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360753810

rs_2126888942

1 SubmittersRCV002031915

NM_001999.4(FBN2):c.6985C>T (p.Arg2329Ter)

SNV
Germline

Chr5:128286745

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360758783

rs_1287289593

2 SubmittersRCV001950154

NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)

SNV
Germline

Chr5:128335254

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395105

rs_755489065

2 SubmittersRCV002006534 RCV005433110

NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)

SNV
Germline

Chr5:128303072

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Ehlers-Danlos syndrome

Criteria Provided
Conflicting Classifications

CA3394575

rs_755672868

2 SubmittersRCV001930973 RCV002276931

NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val)

SNV
Germline

Chr5:128286766

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA3394259

rs_756500246

2 SubmittersRCV002124737 RCV002277024

NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser)

SNV
Germline

Chr5:128277966

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
Macular degeneration, early-onset

Criteria Provided
Conflicting Classifications

CA3394133

rs_576501460

3 SubmittersRCV002151314 RCV003382858 RCV005032180

NM_001999.4(FBN2):c.3424T>G (p.Cys1142Gly)

SNV
Germline

Chr5:128338981

Pathogenic/Likely pathogenic

Congenital contractural arachnodactyly
Macular degeneration, early-onset
Congenital contractural arachnodactyly

Criteria Provided
Multiple Submitters
No Conflicts

CA360759919

rs_1750918931

2 SubmittersRCV002208744 RCV003526114

NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile)

SNV
Germline

Chr5:128301487

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394540

rs_527609978

2 SubmittersRCV002211005 RCV003526115

NM_001999.4(FBN2):c.3515G>C (p.Gly1172Ala)

SNV
Germline

Chr5:128338080

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA127014906

rs_931046977

2 SubmittersRCV002224279 RCV005095756

NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg)

SNV
Germline

Chr5:128273924

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394022

rs_747305733

2 SubmittersRCV002224357 RCV003641004

NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)

SNV
Germline

Chr5:128339056

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395254

rs_537477883

4 SubmittersRCV002224376 RCV003491053 RCV003101268

NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)

SNV
Germline

Chr5:128288530

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394335

rs_747908706

2 SubmittersRCV002223551 RCV003774658

NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)

SNV
Germline

Chr5:128333016

Conflicting classifications of pathogenicity

not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA127007021

rs_971727405

2 SubmittersRCV002248219 RCV003101334

NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)

SNV
Germline

Chr5:128310057

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394772

rs_759117573

3 SubmittersRCV002278037 RCV004823025 RCV003526120

NM_001999.4(FBN2):c.6046+10T>C

SNV
Germline

Chr5:128301372

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA803627089

rs_1179452976

2 SubmittersRCV002278039 RCV003526121

NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser)

SNV
Germline

Chr5:128259757

Conflicting classifications of pathogenicity

Ehlers-Danlos syndrome
Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3393805

rs_199808954

4 SubmittersRCV002278043 RCV002471274 RCV005620442

NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser)

SNV
Germline

Chr5:128339007

Conflicting classifications of pathogenicity

Connective tissue disorder
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA360759979

rs_2126903780

3 SubmittersRCV002278727 RCV003774912

NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)

SNV
Germline

Chr5:128336086

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395178

rs_527944843

2 SubmittersRCV002283189 RCV003774929

NM_001999.4(FBN2):c.3778T>C (p.Ser1260Pro)

SNV
Germline

Chr5:128335524

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360758046

rs_2479801847

1 SubmittersRCV002287303

NM_001999.4(FBN2):c.91C>T (p.Gln31Ter)

SNV
Germline

Chr5:128537513

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360762952

rs_2479828044

1 SubmittersRCV002289363

NM_001999.4(FBN2):c.4658G>A (p.Arg1553His)

SNV
Germline

Chr5:128318208

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394889

rs_772173133

2 SubmittersRCV002292104 RCV005096079

NM_001999.4(FBN2):c.4340G>T (p.Cys1447Phe)

SNV
Germline

Chr5:128330578

Likely pathogenic

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA360753806

rs_2126888942

2 SubmittersRCV005058366 RCV002332198

NM_001999.4(FBN2):c.2150G>A (p.Arg717His)

SNV
Germline

Chr5:128369280

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395622

rs_773896695

2 SubmittersRCV002432464 RCV003641046

NM_001999.4(FBN2):c.2342A>G (p.Asn781Ser)

SNV
Germline

Chr5:128364686

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
not specified
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395575

rs_768485269

3 SubmittersRCV002448298 RCV005406464 RCV005098088

NM_001999.4(FBN2):c.3968G>C (p.Cys1323Ser)

SNV
Germline

Chr5:128335175

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360757293

rs_2479800482

1 SubmittersRCV002470352

NM_001999.4(FBN2):c.4222G>A (p.Asp1408Asn)

SNV
Germline

Chr5:128332912

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360754566

rs_2479791649

1 SubmittersRCV003060010

NM_001999.4(FBN2):c.3535G>T (p.Gly1179Cys)

SNV
Germline

Chr5:128338060

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759363

rs_2479809538

1 SubmittersRCV003037119

NM_001999.4(FBN2):c.1275A>T (p.Gly425=)

SNV
Germline

Chr5:128393325

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA446305914

rs_1453858339

2 SubmittersRCV004617166 RCV003060413

NM_001999.4(FBN2):c.4466G>A (p.Cys1489Tyr)

SNV
Germline

Chr5:128328701

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA3394961

rs_374977692

1 SubmittersRCV002595063

NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)

SNV
Germline

Chr5:128338115

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127014943

rs_142323824

2 SubmittersRCV002629591 RCV003234227

NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)

SNV
Germline

Chr5:128259637

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127001940

rs_372839477

2 SubmittersRCV003114976 RCV005429423

NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)

SNV
Germline

Chr5:128263430

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA446305837

rs_1765029546

2 SubmittersRCV002600698 RCV004617051

NM_001999.4(FBN2):c.3737G>A (p.Cys1246Tyr)

SNV
Germline

Chr5:128335565

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360758138

rs_2479801974

1 SubmittersRCV002608853

NM_001999.4(FBN2):c.4300T>G (p.Cys1434Gly)

SNV
Germline

Chr5:128330618

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360753982

rs_2479786404

1 SubmittersRCV002881487

NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)

SNV
Germline

Chr5:128446576

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA127030153

rs_913201162

2 SubmittersRCV002927201 RCV004786772

NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)

SNV
Germline

Chr5:128361791

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395532

rs_575873653

2 SubmittersRCV003002366 RCV004593118

NM_001999.4(FBN2):c.3482A>G (p.Glu1161Gly)

SNV
Germline

Chr5:128338113

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759578

rs_2479809749

1 SubmittersRCV003010473

NM_001999.4(FBN2):c.3974-9A>G

SNV
Germline

Chr5:128334853

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA2580072568

rs_2479797387

2 SubmittersRCV003140468

NM_001999.4(FBN2):c.3425G>A (p.Cys1142Tyr)

SNV
Germline

Chr5:128338980

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759918

rs_137852828

1 SubmittersRCV003234951

NM_001999.4(FBN2):c.3230G>A (p.Cys1077Tyr)

SNV
Germline

Chr5:128344498

Pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA360762284

rs_2479287527

1 SubmittersRCV003334333

NM_001999.4(FBN2):c.1121G>A (p.Arg374His)

SNV
Germline

Chr5:128395232

Conflicting classifications of pathogenicity

FBN2-related disorder
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395880

rs_750425112

3 SubmittersRCV003421088 RCV004621784 RCV003778337

NM_001999.4(FBN2):c.3967T>C (p.Cys1323Arg)

SNV
Germline

Chr5:128335176

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Marfan syndrome

Criteria Provided
Conflicting Classifications

CA360757296

rs_1581223990

2 SubmittersRCV003525414 RCV003447703

NM_001999.4(FBN2):c.6050C>T (p.Thr2017Ile)

SNV
Germline

Chr5:128300933

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3394509

rs_570637550

2 SubmittersRCV003481770 RCV005100292

NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)

SNV
Germline

Chr5:128357362

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3395494

rs_781700589

2 SubmittersRCV003481771 RCV003641103

NM_001999.4(FBN2):c.3293G>A (p.Cys1098Tyr)

SNV
Germline

Chr5:128344435

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360761965

rs_2479287232

1 SubmittersRCV003525570

NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)

SNV
Germline

Chr5:128332957

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360754900

rs_2479791800

1 SubmittersRCV003525557

NM_001999.4(FBN2):c.4112G>T (p.Cys1371Phe)

SNV
Germline

Chr5:128333022

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360755426

rs_2479792118

1 SubmittersRCV003525797

NM_001999.4(FBN2):c.4273T>C (p.Cys1425Arg)

SNV
Germline

Chr5:128330645

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360754094

rs_1750668598

1 SubmittersRCV003527201

NM_001999.4(FBN2):c.3505T>C (p.Cys1169Arg)

SNV
Germline

Chr5:128338090

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759480

rs_2479809648

1 SubmittersRCV003527574

NM_001999.4(FBN2):c.3770G>A (p.Cys1257Tyr)

SNV
Germline

Chr5:128335532

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360758064

rs_2479801867

1 SubmittersRCV003526385

NM_001999.4(FBN2):c.4301G>A (p.Cys1434Tyr)

SNV
Germline

Chr5:128330617

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360753976

rs_1750667332

1 SubmittersRCV003526602

NM_001999.4(FBN2):c.3547T>C (p.Cys1183Arg)

SNV
Unknown

Chr5:128338048

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759336

rs_2479809519

1 SubmittersRCV003526643

NM_001999.4(FBN2):c.3598+6T>G

SNV
Germline

Chr5:128337991

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA2739275020

rs_2479809369

1 SubmittersRCV003641750

NM_001999.4(FBN2):c.3298T>G (p.Cys1100Gly)

SNV
Germline

Chr5:128344430

Pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360761941

rs_2126912100

1 SubmittersRCV003640438

NM_001999.4(FBN2):c.3594T>G (p.Cys1198Trp)

SNV
Germline

Chr5:128338001

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360759082

rs_2479809390

1 SubmittersRCV003640743

NM_001999.4(FBN2):c.1500T>G (p.His500Gln)

SNV
Germline

Chr5:128392121

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
not specified
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA360747972

rs_1422851315

3 SubmittersRCV003640833 RCV005435269 RCV004621864

NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)

SNV
Germline

Chr5:128345372

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395311

rs_761958762

2 SubmittersRCV003641918 RCV004593434

NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)

SNV
Germline

Chr5:128273843

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394007

rs_770800096

3 SubmittersRCV003640825 RCV004763756 RCV005575212

NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)

SNV
Germline

Chr5:128305587

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394661

rs_140663455

2 SubmittersRCV003642031 RCV005567611

NM_001999.4(FBN2):c.3725-3C>T

SNV
Germline

Chr5:128335580

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly
Macular degeneration, early-onset

Criteria Provided
Conflicting Classifications

CA2739275048

rs_2479802016

3 SubmittersRCV003642093 RCV004823194 RCV004723449

NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)

SNV
Germline

Chr5:128357378

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3395495

rs_746173019

2 SubmittersRCV003642332 RCV004697309

NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)

SNV
Germline

Chr5:128328770

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA3394972

rs_759272453

2 SubmittersRCV003642251 RCV005567619

NM_001999.4(FBN2):c.7912G>A (p.Gly2638Ser)

SNV
Germline

Chr5:128272047

Conflicting classifications of pathogenicity

FBN2-related disorder
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

CA3393979

rs_565953623

3 SubmittersRCV003971991 RCV004546841

NM_001999.4(FBN2):c.7849G>T (p.Glu2617Ter)

SNV
Germline

Chr5:128272110

Likely pathogenic

Congenital contractural arachnodactyly

No Assertion Criteria Provided

CA360751839

rs_2479632082

1 SubmittersRCV003989445

NM_001999.4(FBN2):c.6248G>T (p.Cys2083Phe)

SNV
Germline

Chr5:128291573

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

CA360764393

rs_2479684419

1 SubmittersRCV004555220

NM_001999.4(FBN2):c.8046G>A (p.Ser2682=)

SNV
Germline

Chr5:128263571

Conflicting classifications of pathogenicity

not specified
Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004690579 RCV005335986 RCV005103528

NM_001999.4(FBN2):c.4594+2T>C

SNV
Germline

Chr5:128318877

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV004699007

NM_001999.4(FBN2):c.6800G>A (p.Arg2267His)

SNV
Germline

Chr5:128287388

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004773560 RCV005104982

NM_001999.4(FBN2):c.2242A>T (p.Asn748Tyr)

SNV
Germline

Chr5:128369188

Conflicting classifications of pathogenicity

Condition: not provided
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004777271 RCV005105018

NM_001999.4(FBN2):c.1867A>G (p.Thr623Ala)

SNV
Germline

Chr5:128376836

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004823438 RCV005110260

NM_001999.4(FBN2):c.1405C>T (p.Pro469Ser)

SNV
Germline

Chr5:128393195

Conflicting classifications of pathogenicity

Familial thoracic aortic aneurysm and aortic dissection
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004823445 RCV005110263

NM_001999.4(FBN2):c.1232-17A>G

SNV
Germline

Chr5:128393385

Conflicting classifications of pathogenicity

Macular degeneration, early-onset
Congenital contractural arachnodactyly
Congenital contractural arachnodactyly

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033256 RCV005112870

NM_001999.4(FBN2):c.3506G>A (p.Cys1169Tyr)

SNV
Germline

Chr5:128338089

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005122571

NM_001999.4(FBN2):c.4001A>G (p.Asn1334Ser)

SNV
Germline

Chr5:128334817

Conflicting classifications of pathogenicity

Congenital contractural arachnodactyly
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005127095 RCV005559861

NM_001999.4(FBN2):c.3554G>A (p.Cys1185Tyr)

SNV
Germline

Chr5:128338041

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005124264

NM_001999.4(FBN2):c.3548G>C (p.Cys1183Ser)

SNV
Germline

Chr5:128338047

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005124265

NM_001999.4(FBN2):c.3674G>A (p.Cys1225Tyr)

SNV
Germline

Chr5:128336038

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005136065

NM_001999.4(FBN2):c.4093T>G (p.Cys1365Gly)

SNV
Germline

Chr5:128334725

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005145432

NM_001999.4(FBN2):c.3079T>C (p.Cys1027Arg)

SNV
Germline

Chr5:128345495

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005167897

NM_001999.4(FBN2):c.8084A>G (p.Asp2695Gly)

SNV
Germline

Chr5:128263533

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005233158

NM_001999.4(FBN2):c.3812G>T (p.Gly1271Val)

SNV
Unknown

Chr5:128335490

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005247985

NM_001999.4(FBN2):c.3425G>C (p.Cys1142Ser)

SNV
Germline

Chr5:128338980

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005252492

NM_001999.4(FBN2):c.3598+4A>G

SNV
Germline

Chr5:128337993

Likely pathogenic

Congenital contractural arachnodactyly

Criteria Provided
Single Submitter

1 SubmittersRCV005412212