| 127324885 | CV1161204 | single nucleotide variant | NM_000138.5(FBN1):c.-7C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001524965]|Marfan syndrome [RCV004008812] | uncertain significance | 15 | 48644776 | 48644776 | Human | 3 | name |
| 596928415 | CV3532912 | single nucleotide variant | NM_000138.5(FBN1):c.*4A>G | not provided [RCV004779011] | uncertain significance | 15 | 48410986 | 48410986 | Human | | name |
| 8569426 | CV44734 | microsatellite | FBN1:c.3589+62_3589+71del | not specified [RCV000586337] | benign|uncertain significance | 15 | 48487004 | 48487013 | Human | | name |
| 13528900 | CV505317 | single nucleotide variant | NM_000138.5(FBN1):c.-3A>C | not specified [RCV000605579] | likely benign | 15 | 48644772 | 48644772 | Human | | name |
| 34899227 | CV913052 | single nucleotide variant | NM_000138.5(FBN1):c.-6G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001188004] | uncertain significance | 15 | 48644775 | 48644775 | Human | 1 | name |
| 150446921 | CV1215731 | single nucleotide variant | NM_000138.5(FBN1):c.-36G>C | not provided [RCV001611324] | benign | 15 | 48644805 | 48644805 | Human | | name |
| 8691045 | CV141004 | single nucleotide variant | NM_000138.5(FBN1):c.-35C>T | Acromicric dysplasia [RCV000329758]|Ectopia lentis 1, isolated, autosomal dominant [RCV000309737]|Familial thoracic aortic aneurysm and aortic dissection [RCV000317098]|Geleophysic dysplasia [RCV000274751]|Marfan syndrome [RCV000268703]|Stiff skin syndrome [RCV000389006]|Weill-Marchesani syndrome [R CV000276038]|not provided [RCV000755266]|not specified [RCV000124995] | benign|likely benign | 15 | 48644804 | 48644804 | Human | 8 | name |
| 405019306 | CV2934144 | single nucleotide variant | NM_000138.5(FBN1):c.-12C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003528093]|Marfan syndrome [RCV004011466] | uncertain significance | 15 | 48644781 | 48644781 | Human | 3 | name |
| 11614742 | CV339277 | single nucleotide variant | NM_000138.5(FBN1):c.*57A>G | Acromicric dysplasia [RCV000334470]|Ectopia lentis 1, isolated, autosomal dominant [RCV000398379]|Familial thoracic aortic aneurysm and aortic dissection [RCV000299407]|Geleophysic dysplasia [RCV000390095]|Marfan syndrome [RCV000352121]|Stiff skin syndrome [RCV000394300]|Weill-Marchesani syndrome [R CV000358957]|not provided [RCV004714955] | benign|likely benign | 15 | 48410933 | 48410933 | Human | 8 | name |
| 11648498 | CV340745 | single nucleotide variant | NM_000138.5(FBN1):c.-70C>A | Acromicric dysplasia [RCV000371839]|Ectopia lentis 1, isolated, autosomal dominant [RCV000342993]|Familial thoracic aortic aneurysm and aortic dissection [RCV000337060]|Geleophysic dysplasia [RCV000391571]|Marfan syndrome [RCV000281995]|Stiff skin syndrome [RCV000377690]|Weill-Marchesani syndrome [R CV000283355] | uncertain significance | 15 | 48644839 | 48644839 | Human | 8 | name |
| 11644303 | CV340746 | single nucleotide variant | NM_000138.5(FBN1):c.-98G>T | Acromicric dysplasia [RCV000313642]|Ectopia lentis [RCV000259288]|Familial thoracic aortic aneurysm and aortic dissection [RCV000312422]|Geleophysic dysplasia [RCV000277254]|MASS syndrome [RCV000354203]|Marfan syndrome [RCV000347512]|Stiff skin syndrome [RCV000391567]|Weill-Marchesani syndrome [RCV0 00367048] | uncertain significance | 15 | 48644867 | 48644867 | Human | 10 | name |
| 12840225 | CV374631 | single nucleotide variant | NM_000138.5(FBN1):c.-28C>T | not provided [RCV000755267]|not specified [RCV000430286] | likely benign | 15 | 48644797 | 48644797 | Human | | name |
| 14693985 | CV618277 | single nucleotide variant | NM_000138.5(FBN1):c.-11G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV000775316] | likely benign | 15 | 48644780 | 48644780 | Human | 1 | name |
| 14728912 | CV656293 | single nucleotide variant | NM_000138.5(FBN1):c.-25C>T | not provided [RCV000834986] | likely benign | 15 | 48644794 | 48644794 | Human | | name |
| 28893663 | CV873724 | single nucleotide variant | NM_000138.5(FBN1):c.*43A>T | Acromicric dysplasia [RCV001121797]|Ectopia lentis 1, isolated, autosomal dominant [RCV001121796]|Familial thoracic aortic aneurysm and aortic dissection [RCV001121793]|Geleophysic dysplasia [RCV001121795]|Marfan syndrome [RCV001121792]|Stiff skin syndrome [RCV001121791]|Weill-Marchesani syndrome [R CV001121794] | benign|likely benign|uncertain significance | 15 | 48410947 | 48410947 | Human | 8 | name |
| 150432183 | CV1200562 | single nucleotide variant | NM_000138.5(FBN1):c.*223T>G | not provided [RCV001581285] | likely benign | 15 | 48410767 | 48410767 | Human | | name |
| 8691044 | CV141003 | single nucleotide variant | NM_000138.5(FBN1):c.-176A>T | Acromicric dysplasia [RCV000268782]|Ectopia lentis 1, isolated, autosomal dominant [RCV000264869]|Familial thoracic aortic aneurysm and aortic dissection [RCV000328495]|Geleophysic dysplasia [RCV000300292]|Marfan syndrome [RCV000324750]|Stiff skin syndrome [RCV000360793]|Weill-Marchesani syndrome [R CV000359548]|not specified [RCV000124992] | benign|likely benign|uncertain significance | 15 | 48644945 | 48644945 | Human | 8 | name |
| 11599167 | CV322760 | single nucleotide variant | NM_000138.5(FBN1):c.*948G>T | Acromicric dysplasia [RCV000313568]|Ectopia lentis 1, isolated, autosomal dominant [RCV000262978]|Familial thoracic aortic aneurysm and aortic dissection [RCV000355355]|Geleophysic dysplasia [RCV000270222]|Marfan syndrome [RCV000273589]|Stiff skin syndrome [RCV000370556]|Weill-Marchesani syndrome [R CV000315639] | uncertain significance | 15 | 48410042 | 48410042 | Human | 8 | name |
| 11649011 | CV322762 | single nucleotide variant | NM_000138.5(FBN1):c.*938G>T | Acromicric dysplasia [RCV000377073]|Ectopia lentis [RCV000284890]|Familial thoracic aortic aneurysm and aortic dissection [RCV000285193]|Geleophysic dysplasia [RCV000346828]|MASS syndrome [RCV000372595]|Marfan syndrome [RCV000288541]|Stiff skin syndrome [RCV000323897]|Weill-Marchesani syndrome [RCV0 00401712] | uncertain significance | 15 | 48410052 | 48410052 | Human | 10 | name |
| 11602756 | CV322767 | single nucleotide variant | NM_000138.5(FBN1):c.*730G>T | Acromicric dysplasia [RCV000297172]|Ectopia lentis 1, isolated, autosomal dominant [RCV000294541]|Familial thoracic aortic aneurysm and aortic dissection [RCV000394077]|Geleophysic dysplasia [RCV000336986]|Marfan syndrome [RCV000293740]|Stiff skin syndrome [RCV000401006]|Weill-Marchesani syndrome [R CV000354587]|not provided [RCV001718650] | benign | 15 | 48410260 | 48410260 | Human | 8 | name |
| 11645386 | CV322810 | single nucleotide variant | NM_000138.5(FBN1):c.-132A>C | Acromicric dysplasia [RCV000285341]|Ectopia lentis [RCV000373762]|Familial thoracic aortic aneurysm and aortic dissection [RCV000381566]|Geleophysic dysplasia [RCV000345673]|MASS syndrome [RCV000379688]|Marfan syndrome [RCV000320528]|Stiff skin syndrome [RCV000319117]|Weill-Marchesani syndrome [RCV0 00265371] | uncertain significance | 15 | 48644901 | 48644901 | Human | 10 | name |
| 11602549 | CV322811 | single nucleotide variant | NM_000138.5(FBN1):c.-136G>C | Acromicric dysplasia [RCV000406680]|Ectopia lentis 1, isolated, autosomal dominant [RCV000299142]|Familial thoracic aortic aneurysm and aortic dissection [RCV000291944]|Geleophysic dysplasia [RCV000354041]|Marfan syndrome [RCV000401647]|Stiff skin syndrome [RCV000311576]|Weill-Marchesani syndrome [R CV000352343] | uncertain significance | 15 | 48644905 | 48644905 | Human | 8 | name |
| 11613428 | CV332263 | single nucleotide variant | NM_000138.5(FBN1):c.*764G>A | Acromicric dysplasia [RCV000383236]|Ectopia lentis 1, isolated, autosomal dominant [RCV000381899]|Familial thoracic aortic aneurysm and aortic dissection [RCV000325148]|Geleophysic dysplasia [RCV000291233]|Marfan syndrome [RCV000321623]|Stiff skin syndrome [RCV000317726]|Weill-Marchesani syndrome [R CV000268385] | benign|likely benign|uncertain significance | 15 | 48410226 | 48410226 | Human | 8 | name |
| 11646929 | CV332264 | single nucleotide variant | NM_000138.5(FBN1):c.*406G>T | Acromicric dysplasia [RCV000333425]|Ectopia lentis [RCV000375108]|Familial thoracic aortic aneurysm and aortic dissection [RCV000273656]|Geleophysic dysplasia [RCV000279386]|MASS syndrome [RCV000386834]|Marfan syndrome [RCV000387856]|Stiff skin syndrome [RCV000280409]|Weill-Marchesani syndrome [RCV0 00334551] | uncertain significance | 15 | 48410584 | 48410584 | Human | 10 | name |
| 11648768 | CV332265 | single nucleotide variant | NM_000138.5(FBN1):c.*268G>C | Acromicric dysplasia [RCV000343321]|Ectopia lentis 1, isolated, autosomal dominant [RCV000349417]|Familial thoracic aortic aneurysm and aortic dissection [RCV000283727]|Geleophysic dysplasia [RCV000308807]|Marfan syndrome [RCV000401663]|Stiff skin syndrome [RCV000343747]|Weill-Marchesani syndrome [R CV000288804] | uncertain significance | 15 | 48410722 | 48410722 | Human | 8 | name |
| 11646573 | CV332279 | single nucleotide variant | NM_000138.4(FBN1):c.-371T>C | Acromicric dysplasia [RCV000336981]|Ectopia lentis [RCV000271454]|Familial thoracic aortic aneurysm and aortic dissection [RCV000363778]|Geleophysic dysplasia [RCV000306871]|MASS syndrome [RCV000391905]|Marfan syndrome [RCV000360467]|Stiff skin syndrome [RCV000391916]|Weill-Marchesani syndrome [RCV0 00303431] | uncertain significance | 15 | 48645764 | 48645764 | Human | 10 | name |
| 11615013 | CV332283 | single nucleotide variant | NM_000138.4(FBN1):c.-388C>T | Acromicric dysplasia [RCV000285250]|Ectopia lentis 1, isolated, autosomal dominant [RCV000400138]|Familial thoracic aortic aneurysm and aortic dissection [RCV000338993]|Geleophysic dysplasia [RCV000342682]|Marfan syndrome [RCV000281602]|Stiff skin syndrome [RCV000347994]|Weill-Marchesani syndrome [R CV000309444]|not provided [RCV001653552] | benign | 15 | 48645781 | 48645781 | Human | 8 | name |
| 11614612 | CV339264 | deletion | NM_000138.5(FBN1):c.*960del | Acromicric dysplasia [RCV000407556]|Ectopia lentis [RCV000302161]|Familial thoracic aortic aneurysm and aortic dissection [RCV000310443]|Geleophysic dysplasia [RCV000340675]|MASS syndrome [RCV000399490]|Marfan syndrome [RCV000335884]|Stiff skin syndrome [RCV000278590]|Weill-Marchesani syndrome [RCV0 00362845]|not provided [RCV002262992] | benign|likely benign | 15 | 48410030 | 48410030 | Human | 10 | name |
| 11612535 | CV339265 | single nucleotide variant | NM_000138.5(FBN1):c.*867G>T | Acromicric dysplasia [RCV000260214]|Ectopia lentis 1, isolated, autosomal dominant [RCV000315498]|Familial thoracic aortic aneurysm and aortic dissection [RCV000299863]|Geleophysic dysplasia [RCV000357081]|Marfan syndrome [RCV000367382]|Stiff skin syndrome [RCV000398682]|Weill-Marchesani syndrome [R CV000345881]|not provided [RCV001712027] | benign|likely benign | 15 | 48410123 | 48410123 | Human | 8 | name |
| 11645467 | CV339266 | single nucleotide variant | NM_000138.5(FBN1):c.*724A>C | Acromicric dysplasia [RCV000272634]|Ectopia lentis 1, isolated, autosomal dominant [RCV000327670]|Familial thoracic aortic aneurysm and aortic dissection [RCV000309194]|Geleophysic dysplasia [RCV000265727]|Marfan syndrome [RCV000366243]|Stiff skin syndrome [RCV000390863]|Weill-Marchesani syndrome [R CV000358030] | uncertain significance | 15 | 48410266 | 48410266 | Human | 8 | name |
| 11614271 | CV339275 | single nucleotide variant | NM_000138.5(FBN1):c.*314C>T | Acromicric dysplasia [RCV000399351]|Ectopia lentis 1, isolated, autosomal dominant [RCV000340144]|Familial thoracic aortic aneurysm and aortic dissection [RCV000401289]|Geleophysic dysplasia [RCV000305212]|Marfan syndrome [RCV000365337]|Stiff skin syndrome [RCV000275580]|Weill-Marchesani syndrome [R CV000310625]|not provided [RCV001653551] | benign | 15 | 48410676 | 48410676 | Human | 8 | name |
| 11644787 | CV339276 | single nucleotide variant | NM_000138.5(FBN1):c.*254C>T | Acromicric dysplasia [RCV000297265]|Ectopia lentis 1, isolated, autosomal dominant [RCV000356663]|Ectopia lentis 1, isolated, autosomal dominant [RCV002487395]|Familial thoracic aortic aneurysm and aortic dissection [RCV000408435]|Geleophysic dysplasia [RCV000314590]|Marfan syndrome [RCV000261934]|S tiff skin syndrome [RCV000399726]|Weill-Marchesani syndrome [RCV000321908] | uncertain significance | 15 | 48410736 | 48410736 | Human | 12 | name |
| 11645184 | CV340719 | single nucleotide variant | NM_000138.5(FBN1):c.*987C>T | Acromicric dysplasia [RCV000302863]|Ectopia lentis [RCV000304801]|Familial thoracic aortic aneurysm and aortic dissection [RCV000392189]|Geleophysic dysplasia [RCV000272236]|MASS syndrome [RCV000361212]|Marfan syndrome [RCV000264209]|Stiff skin syndrome [RCV000335045]|Weill-Marchesani syndrome [RCV0 00364603] | uncertain significance | 15 | 48410003 | 48410003 | Human | 10 | name |
| 11614295 | CV340720 | single nucleotide variant | NM_000138.5(FBN1):c.*967C>T | Acromicric dysplasia [RCV000381977]|Ectopia lentis 1, isolated, autosomal dominant [RCV000275807]|Familial thoracic aortic aneurysm and aortic dissection [RCV000333566]|Geleophysic dysplasia [RCV000385769]|Marfan syndrome [RCV000293685]|Stiff skin syndrome [RCV000336915]|Weill-Marchesani syndrome [R CV000375442] | benign|likely benign|uncertain significance | 15 | 48410023 | 48410023 | Human | 8 | name |
| 11645146 | CV340723 | single nucleotide variant | NM_000138.5(FBN1):c.*286C>T | Acromicric dysplasia [RCV000371394]|Ectopia lentis [RCV000263811]|Familial thoracic aortic aneurysm and aortic dissection [RCV000318960]|Geleophysic dysplasia [RCV000317350]|MASS syndrome [RCV000372034]|Marfan syndrome [RCV000378215]|Stiff skin syndrome [RCV000276814]|Weill-Marchesani syndrome [RCV0 00311929] | uncertain significance | 15 | 48410704 | 48410704 | Human | 10 | name |
| 11648427 | CV340748 | single nucleotide variant | NM_000138.4(FBN1):c.-319G>T | Acromicric dysplasia [RCV000293368]|Ectopia lentis 1, isolated, autosomal dominant [RCV000383046]|Familial thoracic aortic aneurysm and aortic dissection [RCV000398930]|Geleophysic dysplasia [RCV000335656]|Marfan syndrome [RCV000281909]|Stiff skin syndrome [RCV000329839]|Weill-Marchesani syndrome [R CV000389085] | uncertain significance | 15 | 48645712 | 48645712 | Human | 8 | name |
| 8569390 | CV44696 | deletion | NM_000138.5(FBN1):c.-117del | Marfan syndrome [RCV000029692] | uncertain significance | 15 | 48644886 | 48644886 | Human | 1 | name |
| 28876827 | CV873713 | single nucleotide variant | NM_000138.5(FBN1):c.*968G>A | Acromicric dysplasia [RCV001117848]|Ectopia lentis 1, isolated, autosomal dominant [RCV001117844]|Familial thoracic aortic aneurysm and aortic dissection [RCV001117845]|Marfan syndrome [RCV001117847]|Stiff skin syndrome [RCV001116397]|Weill-Marchesani syndrome [RCV001117846] | uncertain significance | 15 | 48410022 | 48410022 | Human | 7 | name |
| 28877194 | CV873714 | single nucleotide variant | NM_000138.5(FBN1):c.*845C>T | Acromicric dysplasia [RCV001116501]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116503]|Familial thoracic aortic aneurysm and aortic dissection [RCV001116502]|Marfan syndrome [RCV001116500]|Stiff skin syndrome [RCV001116504]|Weill-Marchesani syndrome [RCV001116499] | uncertain significance | 15 | 48410145 | 48410145 | Human | 7 | name |
| 28877205 | CV873715 | single nucleotide variant | NM_000138.5(FBN1):c.*779C>T | Acromicric dysplasia [RCV001117946]|Ectopia lentis 1, isolated, autosomal dominant [RCV001117945]|Familial thoracic aortic aneurysm and aortic dissection [RCV001117948]|Geleophysic dysplasia [RCV001117947]|Marfan syndrome [RCV001117950]|Stiff skin syndrome [RCV001117949]|Weill-Marchesani syndrome [R CV001116505] | benign|likely benign|uncertain significance | 15 | 48410211 | 48410211 | Human | 8 | name |
| 28882178 | CV873716 | single nucleotide variant | NM_000138.5(FBN1):c.*399C>A | Acromicric dysplasia [RCV001118050]|Ectopia lentis 1, isolated, autosomal dominant [RCV001118049]|Familial thoracic aortic aneurysm and aortic dissection [RCV001118053]|Marfan syndrome [RCV001118051]|Stiff skin syndrome [RCV001118052]|Weill-Marchesani syndrome [RCV001118054] | uncertain significance | 15 | 48410591 | 48410591 | Human | 7 | name |
| 28882193 | CV873717 | single nucleotide variant | NM_000138.5(FBN1):c.*325T>C | Acromicric dysplasia [RCV001118056]|Ectopia lentis 1, isolated, autosomal dominant [RCV001119594]|Familial thoracic aortic aneurysm and aortic dissection [RCV001118055]|Marfan syndrome [RCV001119595]|Stiff skin syndrome [RCV001119596]|Weill-Marchesani syndrome [RCV001119597] | uncertain significance | 15 | 48410665 | 48410665 | Human | 7 | name |
| 28877884 | CV873718 | single nucleotide variant | NM_000138.5(FBN1):c.*311G>A | Acromicric dysplasia [RCV001116718]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116719]|Familial thoracic aortic aneurysm and aortic dissection [RCV001116715]|Marfan syndrome [RCV001116717]|Stiff skin syndrome [RCV001116716]|Weill-Marchesani syndrome [RCV001116720] | uncertain significance | 15 | 48410679 | 48410679 | Human | 7 | name |
| 28877894 | CV873719 | single nucleotide variant | NM_000138.5(FBN1):c.*300T>C | Acromicric dysplasia [RCV001116721]|Ectopia lentis 1, isolated, autosomal dominant [RCV001118160]|Familial thoracic aortic aneurysm and aortic dissection [RCV001118161]|Marfan syndrome [RCV001118158]|Stiff skin syndrome [RCV001118159]|Weill-Marchesani syndrome [RCV001118157] | uncertain significance | 15 | 48410690 | 48410690 | Human | 7 | name |
| 28893423 | CV873720 | single nucleotide variant | NM_000138.5(FBN1):c.*253A>T | Acromicric dysplasia [RCV001121693]|Ectopia lentis 1, isolated, autosomal dominant [RCV001121688]|Familial thoracic aortic aneurysm and aortic dissection [RCV001121690]|Marfan syndrome [RCV001121689]|Stiff skin syndrome [RCV001121692]|Weill-Marchesani syndrome [RCV001121691] | uncertain significance | 15 | 48410737 | 48410737 | Human | 7 | name |
| 28878213 | CV873721 | single nucleotide variant | NM_000138.5(FBN1):c.*252G>A | Acromicric dysplasia [RCV001121694]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116823]|Familial thoracic aortic aneurysm and aortic dissection [RCV001116822]|Marfan syndrome [RCV001116819]|Stiff skin syndrome [RCV001116820]|Weill-Marchesani syndrome [RCV001116821] | uncertain significance | 15 | 48410738 | 48410738 | Human | 7 | name |
| 28878217 | CV873722 | single nucleotide variant | NM_000138.5(FBN1):c.*235T>C | Acromicric dysplasia [RCV001116825]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116826]|Familial thoracic aortic aneurysm and aortic dissection [RCV001118276]|Marfan syndrome [RCV001118275]|Stiff skin syndrome [RCV001116824]|Weill-Marchesani syndrome [RCV001118277] | uncertain significance | 15 | 48410755 | 48410755 | Human | 7 | name |
| 28882918 | CV873723 | single nucleotide variant | NM_000138.5(FBN1):c.*107A>G | Acromicric dysplasia [RCV001118280]|Ectopia lentis 1, isolated, autosomal dominant [RCV001118281]|Familial thoracic aortic aneurysm and aortic dissection [RCV001118282]|Marfan syndrome [RCV001118279]|Stiff skin syndrome [RCV001118278]|Weill-Marchesani syndrome [RCV001119803] | uncertain significance | 15 | 48410883 | 48410883 | Human | 7 | name |
| 28875802 | CV873741 | single nucleotide variant | NM_000138.5(FBN1):c.-108G>A | Acromicric dysplasia [RCV001116078]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116076]|Familial thoracic aortic aneurysm and aortic dissection [RCV001116079]|Marfan syndrome [RCV001116077]|Stiff skin syndrome [RCV001116080]|Weill-Marchesani syndrome [RCV001116075] | uncertain significance | 15 | 48644877 | 48644877 | Human | 7 | name |
| 28875811 | CV873742 | single nucleotide variant | NM_000138.5(FBN1):c.-123C>A | Acromicric dysplasia [RCV001117520]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116082]|Familial thoracic aortic aneurysm and aortic dissection [RCV001117521]|Marfan syndrome [RCV001117523]|Stiff skin syndrome [RCV001116081]|Weill-Marchesani syndrome [RCV001117522] | uncertain significance | 15 | 48644892 | 48644892 | Human | 7 | name |
| 28876156 | CV876537 | single nucleotide variant | NM_000138.4(FBN1):c.-400A>T | Acromicric dysplasia [RCV001117640]|Ectopia lentis 1, isolated, autosomal dominant [RCV001117637]|Familial thoracic aortic aneurysm and aortic dissection [RCV001117639]|Marfan syndrome [RCV001117638]|Stiff skin syndrome [RCV001116196]|Weill-Marchesani syndrome [RCV001116195] | uncertain significance | 15 | 48645793 | 48645793 | Human | 7 | name |
| 127235183 | CV1081175 | single nucleotide variant | NM_000138.5(FBN1):c.736+8C>T | Marfan syndrome [RCV001396599] | likely benign | 15 | 48537603 | 48537603 | Human | 1 | name |
| 127280670 | CV1103006 | single nucleotide variant | NM_000138.5(FBN1):c.164+9A>G | Marfan syndrome [RCV001446645] | likely benign | 15 | 48644597 | 48644597 | Human | 1 | name |
| 127311511 | CV1124434 | single nucleotide variant | NM_000138.5(FBN1):c.442+8C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003485719]|Marfan syndrome [RCV001464174] | likely benign|uncertain significance | 15 | 48600131 | 48600131 | Human | 3 | name |
| 127323608 | CV1161199 | single nucleotide variant | NM_000138.5(FBN1):c.442+4A>C | Ectopia lentis 1, isolated, autosomal dominant [RCV002476834]|FBN1-related disorder [RCV004533950]|Familial thoracic aortic aneurysm and aortic dissection [RCV001524148]|Marfan syndrome [RCV001872021]|Marfan syndrome [RCV004007258] | uncertain significance | 15 | 48600135 | 48600135 | Human | 10 | name |
| 150337813 | CV1166587 | single nucleotide variant | NM_000138.5(FBN1):c.539-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV005330887]|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV001532976]|Marfan syndrome [RCV002568219]|not provided [RCV003481120] | pathogenic|likely pathogenic | 15 | 48537810 | 48537810 | Human | 4 | name |
| 150534230 | CV1293382 | single nucleotide variant | NM_000138.5(FBN1):c.248-7T>G | not provided [RCV001756603] | uncertain significance | 15 | 48610833 | 48610833 | Human | | name |
| 151806802 | CV1449883 | single nucleotide variant | NM_000138.5(FBN1):c.247+9A>G | Marfan syndrome [RCV001899573]|Marfan syndrome [RCV005416041]|not provided [RCV004699518] | likely pathogenic|uncertain significance | 15 | 48613001 | 48613001 | Human | 1 | name |
| 152047639 | CV1519784 | deletion | NM_000138.5(FBN1):c.165-3del | Marfan syndrome [RCV002145264] | benign | 15 | 48613095 | 48613095 | Human | 1 | name |
| 152126944 | CV1572010 | single nucleotide variant | NM_000138.5(FBN1):c.165-8T>G | Marfan syndrome [RCV002217539] | likely benign | 15 | 48613100 | 48613100 | Human | 1 | name |
| 9691655 | CV176134 | single nucleotide variant | NM_000138.5(FBN1):c.164+2T>C | Marfan syndrome [RCV000150706] | likely pathogenic | 15 | 48644604 | 48644604 | Human | 1 | name |
| 155709913 | CV1830915 | single nucleotide variant | NM_000138.5(FBN1):c.164+1G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002403538]|Thoracic aortic aneurysm or dissection [RCV005254086] | pathogenic|likely pathogenic | 15 | 48644605 | 48644605 | Human | 1 | name |
| 156026256 | CV1883313 | single nucleotide variant | NM_000138.5(FBN1):c.989-8G>A | Marfan syndrome [RCV003077886]|Marfan syndrome [RCV004009378]|not specified [RCV004783006] | likely benign|uncertain significance | 15 | 48520825 | 48520825 | Human | 1 | name |
| 10054946 | CV197818 | single nucleotide variant | NM_000138.5(FBN1):c.539-1G>A | not provided [RCV000181414] | pathogenic | 15 | 48537809 | 48537809 | Human | | name |
| 10055021 | CV197827 | single nucleotide variant | NM_000138.5(FBN1):c.164+1G>A | Marfan syndrome [RCV000017897]|Marfan syndrome [RCV001389970]|not provided [RCV000181502] | pathogenic|likely pathogenic | 15 | 48644605 | 48644605 | Human | 1 | name |
| 156212709 | CV2170981 | single nucleotide variant | NM_000138.5(FBN1):c.247+5G>C | Marfan syndrome [RCV003042393] | uncertain significance | 15 | 48613005 | 48613005 | Human | 1 | name |
| 156448648 | CV2402057 | single nucleotide variant | NM_000138.5(FBN1):c.988+3A>G | not provided [RCV003120216] | uncertain significance | 15 | 48526127 | 48526127 | Human | | name |
| 243050442 | CV2403818 | deletion | NM_000138.5(FBN1):c.247+4del | Marfan syndrome [RCV003128489] | uncertain significance | 15 | 48613006 | 48613006 | Human | 1 | name |
| 329351354 | CV2478011 | single nucleotide variant | NM_000138.5(FBN1):c.164+3A>G | Marfan syndrome [RCV005414289] | likely pathogenic|uncertain significance | 15 | 48644603 | 48644603 | Human | 1 | name |
| 11580700 | CV264871 | single nucleotide variant | NM_000138.5(FBN1):c.539-1G>T | not provided [RCV000341514] | pathogenic | 15 | 48537809 | 48537809 | Human | | name |
| 329955160 | CV2671101 | single nucleotide variant | NM_000138.5(FBN1):c.863-2A>G | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV003236372]|Marfan syndrome [RCV003779859] | likely pathogenic | 15 | 48526257 | 48526257 | Human | 2 | name |
| 401797298 | CV2742126 | single nucleotide variant | NM_000138.5(FBN1):c.736+4A>G | not specified [RCV003324304] | uncertain significance | 15 | 48537607 | 48537607 | Human | | name |
| 404991126 | CV2850089 | single nucleotide variant | NM_000138.5(FBN1):c.346+3A>G | not provided [RCV003490766]|not specified [RCV005240787] | uncertain significance | 15 | 48610725 | 48610725 | Human | | name |
| 405019220 | CV2934127 | single nucleotide variant | NM_000138.5(FBN1):c.989-6C>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003528076]|Marfan syndrome [RCV004804641] | likely benign|uncertain significance | 15 | 48520823 | 48520823 | Human | 3 | name |
| 402525286 | CV3086743 | single nucleotide variant | NM_000138.5(FBN1):c.443-9A>T | Marfan syndrome [RCV003781360] | likely benign | 15 | 48596387 | 48596387 | Human | 1 | name |
| 405125424 | CV3111836 | single nucleotide variant | NM_000138.5(FBN1):c.165-1G>C | Marfan syndrome [RCV003815309] | pathogenic | 15 | 48613093 | 48613093 | Human | 1 | name |
| 405269945 | CV3198042 | single nucleotide variant | NM_000138.5(FBN1):c.863-7A>C | FBN1-related disorder [RCV004534554] | likely benign | 15 | 48526262 | 48526262 | Human | | name |
| 11645361 | CV322730 | single nucleotide variant | NM_000138.5(FBN1):c.*2638T>C | Acromicric dysplasia [RCV000345212]|Ectopia lentis 1, isolated, autosomal dominant [RCV000356576]|Familial thoracic aortic aneurysm and aortic dissection [RCV000305140]|Geleophysic dysplasia [RCV000357644]|Marfan syndrome [RCV000299294]|Stiff skin syndrome [RCV000402961]|Weill-Marchesani syndrome [R CV000306747] | uncertain significance | 15 | 48408352 | 48408352 | Human | 8 | name |
| 11600496 | CV322731 | single nucleotide variant | NM_000138.5(FBN1):c.*2395G>A | Acromicric dysplasia [RCV000378503]|Ectopia lentis 1, isolated, autosomal dominant [RCV000333103]|Familial thoracic aortic aneurysm and aortic dissection [RCV000344869]|Geleophysic dysplasia [RCV000274471]|Marfan syndrome [RCV000327277]|Stiff skin syndrome [RCV000287516]|Weill-Marchesani syndrome [R CV000384154] | benign|likely benign|uncertain significance | 15 | 48408595 | 48408595 | Human | 8 | name |
| 11598920 | CV322733 | single nucleotide variant | NM_000138.5(FBN1):c.*2153A>G | Acromicric dysplasia [RCV000281280]|Ectopia lentis 1, isolated, autosomal dominant [RCV000375822]|Familial thoracic aortic aneurysm and aortic dissection [RCV000331676]|Geleophysic dysplasia [RCV000324390]|Marfan syndrome [RCV000360481]|Stiff skin syndrome [RCV000316621]|Weill-Marchesani syndrome [R CV000261123]|not provided [RCV001795936] | benign|likely benign | 15 | 48408837 | 48408837 | Human | 8 | name |
| 11649425 | CV322734 | single nucleotide variant | NM_000138.5(FBN1):c.*2114T>A | Acromicric dysplasia [RCV000392812]|Ectopia lentis 1, isolated, autosomal dominant [RCV000347116]|Familial thoracic aortic aneurysm and aortic dissection [RCV000287436]|Geleophysic dysplasia [RCV000351700]|Marfan syndrome [RCV000358503]|Stiff skin syndrome [RCV000296668]|Weill-Marchesani syndrome [R CV000303730] | uncertain significance | 15 | 48408876 | 48408876 | Human | 8 | name |
| 11600858 | CV322736 | single nucleotide variant | NM_000138.5(FBN1):c.*2040T>C | Acromicric dysplasia [RCV000312550]|Ectopia lentis 1, isolated, autosomal dominant [RCV000367193]|Familial thoracic aortic aneurysm and aortic dissection [RCV000297405]|Geleophysic dysplasia [RCV000341696]|Marfan syndrome [RCV000393126]|Stiff skin syndrome [RCV000337771]|Weill-Marchesani syndrome [R CV000404349]|not provided [RCV001597077] | benign | 15 | 48408950 | 48408950 | Human | 8 | name |
| 11599540 | CV322737 | single nucleotide variant | NM_000138.5(FBN1):c.*2024A>G | Acromicric dysplasia [RCV000329178]|Ectopia lentis 1, isolated, autosomal dominant [RCV000380116]|Familial thoracic aortic aneurysm and aortic dissection [RCV000363558]|Geleophysic dysplasia [RCV000313640]|Marfan syndrome [RCV000265962]|Stiff skin syndrome [RCV000383738]|Weill-Marchesani syndrome [R CV000321072]|not provided [RCV003311752] | likely benign|uncertain significance | 15 | 48408966 | 48408966 | Human | 8 | name |
| 11599664 | CV322739 | single nucleotide variant | NM_000138.5(FBN1):c.*1959G>A | Acromicric dysplasia [RCV000302654]|Ectopia lentis 1, isolated, autosomal dominant [RCV000324776]|Familial thoracic aortic aneurysm and aortic dissection [RCV000359699]|Geleophysic dysplasia [RCV000308516]|Marfan syndrome [RCV000405917]|Stiff skin syndrome [RCV000390902]|Weill-Marchesani syndrome [R CV000267364]|not provided [RCV001613015] | benign | 15 | 48409031 | 48409031 | Human | 8 | name |
| 11634610 | CV322740 | duplication | NM_000138.5(FBN1):c.*1950dup | Acromicric dysplasia [RCV000375638]|Ectopia lentis [RCV000388474]|Familial thoracic aortic aneurysm and aortic dissection [RCV000296522]|Geleophysic dysplasia [RCV000261391]|MASS syndrome [RCV000331601]|Marfan syndrome [RCV000318886]|Stiff skin syndrome [RCV000292933]|Weill-Marchesani syndrome [RCV0 00353889] | likely benign | 15 | 48409039 | 48409040 | Human | 10 | name |
| 11602386 | CV322742 | single nucleotide variant | NM_000138.5(FBN1):c.*1949T>C | Acromicric dysplasia [RCV000344396]|Ectopia lentis 1, isolated, autosomal dominant [RCV000347450]|Familial thoracic aortic aneurysm and aortic dissection [RCV000391617]|Geleophysic dysplasia [RCV000290556]|Marfan syndrome [RCV000360170]|Stiff skin syndrome [RCV000303126]|Weill-Marchesani syndrome [R CV000403156] | likely benign|uncertain significance | 15 | 48409041 | 48409041 | Human | 8 | name |
| 11648721 | CV322743 | single nucleotide variant | NM_000138.5(FBN1):c.*1733A>G | Acromicric dysplasia [RCV000383364]|Ectopia lentis [RCV000286864]|Familial thoracic aortic aneurysm and aortic dissection [RCV000335120]|Geleophysic dysplasia [RCV000390076]|MASS syndrome [RCV000287745]|Marfan syndrome [RCV000283469]|Stiff skin syndrome [RCV000340852]|Weill-Marchesani syndrome [RCV0 00326458] | uncertain significance | 15 | 48409257 | 48409257 | Human | 10 | name |
| 11602543 | CV322749 | single nucleotide variant | NM_000138.5(FBN1):c.*1580G>A | Acromicric dysplasia [RCV000392600]|Ectopia lentis 1, isolated, autosomal dominant [RCV000339349]|Familial thoracic aortic aneurysm and aortic dissection [RCV000291314]|Geleophysic dysplasia [RCV000304567]|Marfan syndrome [RCV000390840]|Stiff skin syndrome [RCV000392595]|Weill-Marchesani syndrome [R CV000298828]|not provided [RCV002262989] | benign|likely benign|uncertain significance | 15 | 48409410 | 48409410 | Human | 8 | name |
| 11599070 | CV322752 | single nucleotide variant | NM_000138.5(FBN1):c.*1084T>C | Acromicric dysplasia [RCV000315715]|Ectopia lentis 1, isolated, autosomal dominant [RCV000271895]|Familial thoracic aortic aneurysm and aortic dissection [RCV000329569]|Geleophysic dysplasia [RCV000268512]|Marfan syndrome [RCV000262768]|Stiff skin syndrome [RCV000321291]|Weill-Marchesani syndrome [R CV000354136] | benign | 15 | 48409906 | 48409906 | Human | 8 | name |
| 11601464 | CV322796 | single nucleotide variant | NM_000138.5(FBN1):c.538+4A>G | Acromicric dysplasia [RCV000339135]|Connective tissue disorder [RCV002278422]|Ectopia lentis 1, isolated, autosomal dominant [RCV000286081]|Familial thoracic aortic aneurysm and aortic dissection [RCV000335275]|Geleophysic dysplasia [RCV000393946]|Marfan syndrome [RCV000331838]|Marfan syndrome [RCV0 00467366]|Stiff skin syndrome [RCV000282551]|Weill-Marchesani syndrome [RCV000373450]|not provided [RCV001579785]|not specified [RCV000421497] | benign|likely benign|conflicting interpretations of pathogenicity | 15 | 48596279 | 48596279 | Human | 9 | name |
| 405719008 | CV3231185 | single nucleotide variant | NM_000138.5(FBN1):c.442+4A>T | Marfan syndrome [RCV004012591] | uncertain significance | 15 | 48600135 | 48600135 | Human | 1 | name |
| 405751172 | CV3234023 | single nucleotide variant | NM_000138.5(FBN1):c.442+1G>C | Marfan syndrome [RCV004016252]|Marfan syndrome [RCV005216174] | likely pathogenic | 15 | 48600138 | 48600138 | Human | 1 | name |
| 405744678 | CV3234625 | duplication | NM_000138.5(FBN1):c.347-5dup | Marfan syndrome [RCV004015499] | likely benign | 15 | 48600238 | 48600239 | Human | 1 | name |
| 405747803 | CV3234954 | single nucleotide variant | NM_000138.5(FBN1):c.347-2A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV005403421]|Marfan syndrome [RCV004015829] | likely pathogenic | 15 | 48600236 | 48600236 | Human | 3 | name |
| 11616358 | CV332233 | single nucleotide variant | NM_000138.5(FBN1):c.*2674T>A | Acromicric dysplasia [RCV000316295]|Ectopia lentis 1, isolated, autosomal dominant [RCV000373162]|Familial thoracic aortic aneurysm and aortic dissection [RCV000406036]|Geleophysic dysplasia [RCV000295161]|Marfan syndrome [RCV000352186]|Stiff skin syndrome [RCV000385717]|Weill-Marchesani syndrome [R CV000293846] | benign|likely benign | 15 | 48408316 | 48408316 | Human | 8 | name |
| 11648262 | CV332236 | single nucleotide variant | NM_000138.5(FBN1):c.*2533C>A | Acromicric dysplasia [RCV000321073]|Ectopia lentis [RCV000378020]|Familial thoracic aortic aneurysm and aortic dissection [RCV000338536]|Geleophysic dysplasia [RCV000378584]|MASS syndrome [RCV000287166]|Marfan syndrome [RCV000281096]|Stiff skin syndrome [RCV000326230]|Weill-Marchesani syndrome [RCV0 00390998] | uncertain significance | 15 | 48408457 | 48408457 | Human | 10 | name |
| 11645349 | CV332237 | single nucleotide variant | NM_000138.5(FBN1):c.*2443G>T | Acromicric dysplasia [RCV000357999]|Ectopia lentis [RCV000374991]|Familial thoracic aortic aneurysm and aortic dissection [RCV000265165]|Geleophysic dysplasia [RCV000266861]|MASS syndrome [RCV000316924]|Marfan syndrome [RCV000278164]|Stiff skin syndrome [RCV000324240]|Weill-Marchesani syndrome [RCV0 00317933] | uncertain significance | 15 | 48408547 | 48408547 | Human | 10 | name |
| 11612655 | CV332238 | single nucleotide variant | NM_000138.5(FBN1):c.*2398G>T | Acromicric dysplasia [RCV000353786]|Ectopia lentis 1, isolated, autosomal dominant [RCV000359661]|Familial thoracic aortic aneurysm and aortic dissection [RCV000341826]|Geleophysic dysplasia [RCV000403235]|Marfan syndrome [RCV000262543]|Stiff skin syndrome [RCV000261507]|Weill-Marchesani syndrome [R CV000302246] | likely benign|uncertain significance | 15 | 48408592 | 48408592 | Human | 8 | name |
| 11647709 | CV332243 | single nucleotide variant | NM_000138.5(FBN1):c.*2221A>G | Acromicric dysplasia [RCV000392467]|Ectopia lentis 1, isolated, autosomal dominant [RCV000293725]|Familial thoracic aortic aneurysm and aortic dissection [RCV000286835]|Geleophysic dysplasia [RCV000376601]|Marfan syndrome [RCV000278075]|Stiff skin syndrome [RCV000323068]|Weill-Marchesani syndrome [R CV000372615] | uncertain significance | 15 | 48408769 | 48408769 | Human | 8 | name |
| 11612991 | CV332247 | single nucleotide variant | NM_000138.5(FBN1):c.*2158G>A | Acromicric dysplasia [RCV000264532]|Ectopia lentis 1, isolated, autosomal dominant [RCV000309412]|Familial thoracic aortic aneurysm and aortic dissection [RCV000359463]|Geleophysic dysplasia [RCV000402950]|Marfan syndrome [RCV000406604]|Stiff skin syndrome [RCV000313560]|Weill-Marchesani syndrome [R CV000362911]|not provided [RCV001597076] | benign | 15 | 48408832 | 48408832 | Human | 8 | name |
| 11614533 | CV332248 | single nucleotide variant | NM_000138.5(FBN1):c.*1720C>T | Acromicric dysplasia [RCV000407356]|Ectopia lentis 1, isolated, autosomal dominant [RCV000312963]|Familial thoracic aortic aneurysm and aortic dissection [RCV000370096]|Geleophysic dysplasia [RCV000299938]|Marfan syndrome [RCV000338538]|Stiff skin syndrome [RCV000405412]|Weill-Marchesani syndrome [R CV000307266] | likely benign|uncertain significance | 15 | 48409270 | 48409270 | Human | 8 | name |
| 11648622 | CV332249 | single nucleotide variant | NM_000138.5(FBN1):c.*1672G>A | Acromicric dysplasia [RCV000348973]|Ectopia lentis [RCV000352308]|Familial thoracic aortic aneurysm and aortic dissection [RCV000282588]|Geleophysic dysplasia [RCV000374701]|MASS syndrome [RCV000336324]|Marfan syndrome [RCV000313876]|Stiff skin syndrome [RCV000408130]|Weill-Marchesani syndrome [RCV0 00408128] | uncertain significance | 15 | 48409318 | 48409318 | Human | 10 | name |
| 11612706 | CV332251 | single nucleotide variant | NM_000138.5(FBN1):c.*1619T>A | Acromicric dysplasia [RCV000389250]|Ectopia lentis 1, isolated, autosomal dominant [RCV000319132]|Familial thoracic aortic aneurysm and aortic dissection [RCV000261642]|Geleophysic dysplasia [RCV000287964]|Marfan syndrome [RCV000351126]|Stiff skin syndrome [RCV000345094]|Weill-Marchesani syndrome [R CV000385314] | likely benign|uncertain significance | 15 | 48409371 | 48409371 | Human | 8 | name |
| 11614982 | CV332252 | single nucleotide variant | NM_000138.5(FBN1):c.*1562G>T | Acromicric dysplasia [RCV000330826]|Ectopia lentis 1, isolated, autosomal dominant [RCV000402119]|Familial thoracic aortic aneurysm and aortic dissection [RCV000287416]|Geleophysic dysplasia [RCV000407482]|Marfan syndrome [RCV000385340]|Stiff skin syndrome [RCV000342334]|Weill-Marchesani syndrome [R CV000336559]|not provided [RCV001690056] | benign | 15 | 48409428 | 48409428 | Human | 8 | name |
| 11614482 | CV332254 | single nucleotide variant | NM_000138.5(FBN1):c.*1484C>T | Acromicric dysplasia [RCV000277465]|Ectopia lentis 1, isolated, autosomal dominant [RCV000368733]|Familial thoracic aortic aneurysm and aortic dissection [RCV000366545]|Geleophysic dysplasia [RCV000302470]|Marfan syndrome [RCV000308119]|Stiff skin syndrome [RCV000362775]|Weill-Marchesani syndrome [R CV000332570] | benign|likely benign|uncertain significance | 15 | 48409506 | 48409506 | Human | 8 | name |
| 11647047 | CV332259 | single nucleotide variant | NM_000138.5(FBN1):c.*1477C>A | Acromicric dysplasia [RCV000279541]|Ectopia lentis [RCV000285252]|Familial thoracic aortic aneurysm and aortic dissection [RCV000319929]|Geleophysic dysplasia [RCV000274084]|MASS syndrome [RCV000340210]|Marfan syndrome [RCV000315953]|Stiff skin syndrome [RCV000374544]|Weill-Marchesani syndrome [RCV0 00379898] | uncertain significance | 15 | 48409513 | 48409513 | Human | 10 | name |
| 11649831 | CV332260 | single nucleotide variant | NM_000138.5(FBN1):c.*1396C>T | Acromicric dysplasia [RCV000383831]|Ectopia lentis [RCV000329130]|Familial thoracic aortic aneurysm and aortic dissection [RCV000294688]|Geleophysic dysplasia [RCV000289456]|MASS syndrome [RCV000349569]|Marfan syndrome [RCV000344469]|Stiff skin syndrome [RCV000389721]|Weill-Marchesani syndrome [RCV0 00400645] | uncertain significance | 15 | 48409594 | 48409594 | Human | 10 | name |
| 11613565 | CV332261 | single nucleotide variant | NM_000138.5(FBN1):c.*1325T>C | Acromicric dysplasia [RCV000382883]|Ectopia lentis 1, isolated, autosomal dominant [RCV000269334]|Familial thoracic aortic aneurysm and aortic dissection [RCV000388211]|Geleophysic dysplasia [RCV000330382]|Marfan syndrome [RCV000293993]|Stiff skin syndrome [RCV000273266]|Weill-Marchesani syndrome [R CV000328336] | benign|likely benign|uncertain significance | 15 | 48409665 | 48409665 | Human | 8 | name |
| 11615371 | CV339214 | single nucleotide variant | NM_000138.5(FBN1):c.*2578C>T | Acromicric dysplasia [RCV000382541]|Ectopia lentis [RCV000297990]|Familial thoracic aortic aneurysm and aortic dissection [RCV000337703]|Geleophysic dysplasia [RCV000343053]|MASS syndrome [RCV000285814]|Marfan syndrome [RCV000407975]|Stiff skin syndrome [RCV000284993]|Weill-Marchesani syndrome [RCV0 00404645] | uncertain significance | 15 | 48408412 | 48408412 | Human | 10 | name |
| 11614795 | CV339217 | single nucleotide variant | NM_000138.5(FBN1):c.*2524A>G | Acromicric dysplasia [RCV000404742]|Ectopia lentis 1, isolated, autosomal dominant [RCV000279786]|Familial thoracic aortic aneurysm and aortic dissection [RCV000405503]|Geleophysic dysplasia [RCV000351282]|Marfan syndrome [RCV000364877]|Stiff skin syndrome [RCV000312531]|Weill-Marchesani syndrome [R CV000363823]|not provided [RCV001785561] | benign|likely benign | 15 | 48408466 | 48408466 | Human | 8 | name |
| 11646315 | CV339221 | single nucleotide variant | NM_000138.5(FBN1):c.*2260C>A | Acromicric dysplasia [RCV000384497]|Ectopia lentis [RCV000321922]|Familial thoracic aortic aneurysm and aortic dissection [RCV000273985]|Geleophysic dysplasia [RCV000369833]|MASS syndrome [RCV000270252]|Marfan syndrome [RCV000271340]|Stiff skin syndrome [RCV000325283]|Weill-Marchesani syndrome [RCV0 00315102] | uncertain significance | 15 | 48408730 | 48408730 | Human | 10 | name |
| 11647422 | CV339222 | single nucleotide variant | NM_000138.5(FBN1):c.*2078G>T | Acromicric dysplasia [RCV000340363]|Ectopia lentis [RCV000286733]|Familial thoracic aortic aneurysm and aortic dissection [RCV000389419]|Geleophysic dysplasia [RCV000376396]|MASS syndrome [RCV000384546]|Marfan syndrome [RCV000276468]|Stiff skin syndrome [RCV000290185]|Weill-Marchesani syndrome [RCV0 00326782] | uncertain significance | 15 | 48408912 | 48408912 | Human | 10 | name |
| 11615115 | CV339223 | single nucleotide variant | NM_000138.5(FBN1):c.*1989C>T | Acromicric dysplasia [RCV000372156]|Ectopia lentis 1, isolated, autosomal dominant [RCV000337600]|Familial thoracic aortic aneurysm and aortic dissection [RCV000352769]|Geleophysic dysplasia [RCV000285932]|Marfan syndrome [RCV000282532]|Stiff skin syndrome [RCV000311866]|Weill-Marchesani syndrome [R CV000336213]|not provided [RCV001561849] | benign|likely benign | 15 | 48409001 | 48409001 | Human | 8 | name |
| 11644707 | CV339224 | single nucleotide variant | NM_000138.5(FBN1):c.*1943G>T | Acromicric dysplasia [RCV000354569]|Ectopia lentis [RCV000389195]|Familial thoracic aortic aneurysm and aortic dissection [RCV000274949]|Geleophysic dysplasia [RCV000319637]|MASS syndrome [RCV000367284]|Marfan syndrome [RCV000261567]|Stiff skin syndrome [RCV000297326]|Weill-Marchesani syndrome [RCV0 00332421] | uncertain significance | 15 | 48409047 | 48409047 | Human | 10 | name |
| 11613229 | CV339232 | single nucleotide variant | NM_000138.5(FBN1):c.*1706C>A | Acromicric dysplasia [RCV000278958]|Ectopia lentis 1, isolated, autosomal dominant [RCV000266293]|Familial thoracic aortic aneurysm and aortic dissection [RCV000380579]|Geleophysic dysplasia [RCV000328431]|Marfan syndrome [RCV000377181]|Stiff skin syndrome [RCV000364319]|Weill-Marchesani syndrome [R CV000271046] | uncertain significance | 15 | 48409284 | 48409284 | Human | 8 | name |
| 11645920 | CV339237 | single nucleotide variant | NM_000138.5(FBN1):c.*1635C>A | Acromicric dysplasia [RCV000316032]|Ectopia lentis [RCV000267851]|Familial thoracic aortic aneurysm and aortic dissection [RCV000303041]|Geleophysic dysplasia [RCV000272992]|MASS syndrome [RCV000373026]|Marfan syndrome [RCV000308267]|Stiff skin syndrome [RCV000365120]|Weill-Marchesani syndrome [RCV0 00360089] | uncertain significance | 15 | 48409355 | 48409355 | Human | 10 | name |
| 11616024 | CV339240 | single nucleotide variant | NM_000138.5(FBN1):c.*1437G>A | Acromicric dysplasia [RCV000312390]|Ectopia lentis [RCV000408060]|Familial thoracic aortic aneurysm and aortic dissection [RCV000306690]|Geleophysic dysplasia [RCV000345950]|MASS syndrome [RCV000376135]|Marfan syndrome [RCV000290969]|Stiff skin syndrome [RCV000408054]|Weill-Marchesani syndrome [RCV0 00352276] | likely benign | 15 | 48409553 | 48409553 | Human | 10 | name |
| 11645016 | CV339241 | single nucleotide variant | NM_000138.5(FBN1):c.*1398G>C | Acromicric dysplasia [RCV000377838]|Ectopia lentis 1, isolated, autosomal dominant [RCV000299626]|Familial thoracic aortic aneurysm and aortic dissection [RCV000268174]|Geleophysic dysplasia [RCV000367086]|Marfan syndrome [RCV000263239]|Stiff skin syndrome [RCV000264723]|Weill-Marchesani syndrome [R CV000323148] | uncertain significance | 15 | 48409592 | 48409592 | Human | 8 | name |
| 11613315 | CV339243 | single nucleotide variant | NM_000138.5(FBN1):c.*1368A>G | Acromicric dysplasia [RCV000267390]|Ectopia lentis 1, isolated, autosomal dominant [RCV000336602]|Familial thoracic aortic aneurysm and aortic dissection [RCV000297917]|Geleophysic dysplasia [RCV000303866]|Marfan syndrome [RCV000393665]|Stiff skin syndrome [RCV000358382]|Weill-Marchesani syndrome [R CV000300488]|not provided [RCV001778903] | benign|likely benign | 15 | 48409622 | 48409622 | Human | 8 | name |
| 11614956 | CV339245 | single nucleotide variant | NM_000138.5(FBN1):c.*1298C>G | Acromicric dysplasia [RCV000375598]|Ectopia lentis 1, isolated, autosomal dominant [RCV000281194]|Familial thoracic aortic aneurysm and aortic dissection [RCV000285339]|Geleophysic dysplasia [RCV000340264]|Marfan syndrome [RCV000336286]|Stiff skin syndrome [RCV000309827]|Weill-Marchesani syndrome [R CV000390296]|not provided [RCV002262990] | benign|likely benign|uncertain significance | 15 | 48409692 | 48409692 | Human | 8 | name |
| 11615968 | CV339250 | single nucleotide variant | NM_000138.5(FBN1):c.*1228T>C | Acromicric dysplasia [RCV000290559]|Ectopia lentis 1, isolated, autosomal dominant [RCV000370471]|Familial thoracic aortic aneurysm and aortic dissection [RCV000407922]|Geleophysic dysplasia [RCV000313497]|Marfan syndrome [RCV000355296]|Stiff skin syndrome [RCV000345563]|Weill-Marchesani syndrome [R CV000402058]|not provided [RCV004705313] | benign|likely benign | 15 | 48409762 | 48409762 | Human | 8 | name |
| 11649819 | CV339263 | single nucleotide variant | NM_000138.5(FBN1):c.*1007G>T | Acromicric dysplasia [RCV000289651]|Ectopia lentis [RCV000389452]|Familial thoracic aortic aneurysm and aortic dissection [RCV000401085]|Geleophysic dysplasia [RCV000350110]|MASS syndrome [RCV000381794]|Marfan syndrome [RCV000292748]|Stiff skin syndrome [RCV000301100]|Weill-Marchesani syndrome [RCV0 00351644] | uncertain significance | 15 | 48409983 | 48409983 | Human | 10 | name |
| 405853660 | CV3395095 | single nucleotide variant | NM_000138.5(FBN1):c.347-1G>C | Marfan syndrome [RCV004555237] | likely pathogenic | 15 | 48600235 | 48600235 | Human | 1 | name |
| 11644287 | CV340691 | single nucleotide variant | NM_000138.5(FBN1):c.*2594G>T | Acromicric dysplasia [RCV000291758]|Ectopia lentis [RCV000344238]|Familial thoracic aortic aneurysm and aortic dissection [RCV000259402]|Geleophysic dysplasia [RCV000331555]|MASS syndrome [RCV000317001]|Marfan syndrome [RCV000274188]|Stiff skin syndrome [RCV000383764]|Weill-Marchesani syndrome [RCV0 00387887] | uncertain significance | 15 | 48408396 | 48408396 | Human | 10 | name |
| 11646041 | CV340694 | single nucleotide variant | NM_000138.5(FBN1):c.*2556G>A | Acromicric dysplasia [RCV000268818]|Ectopia lentis 1, isolated, autosomal dominant [RCV000327389]|Familial thoracic aortic aneurysm and aortic dissection [RCV000315490]|Geleophysic dysplasia [RCV000365643]|Marfan syndrome [RCV000366847]|Stiff skin syndrome [RCV000274528]|Weill-Marchesani syndrome [R CV000355135] | uncertain significance | 15 | 48408434 | 48408434 | Human | 8 | name |
| 11649995 | CV340697 | single nucleotide variant | NM_000138.5(FBN1):c.*2421C>A | Acromicric dysplasia [RCV000405112]|Ectopia lentis [RCV000347819]|Familial thoracic aortic aneurysm and aortic dissection [RCV000387807]|Geleophysic dysplasia [RCV000296010]|MASS syndrome [RCV000308041]|Marfan syndrome [RCV000387267]|Stiff skin syndrome [RCV000348533]|Weill-Marchesani syndrome [RCV0 00290650] | uncertain significance | 15 | 48408569 | 48408569 | Human | 10 | name |
| 11615229 | CV340712 | single nucleotide variant | NM_000138.5(FBN1):c.*2360C>G | Acromicric dysplasia [RCV000335111]|Ectopia lentis [RCV000283674]|Familial thoracic aortic aneurysm and aortic dissection [RCV000407845]|Geleophysic dysplasia [RCV000298838]|MASS syndrome [RCV000405816]|Marfan syndrome [RCV000343335]|Stiff skin syndrome [RCV000368552]|Weill-Marchesani syndrome [RCV0 00299999] | likely benign | 15 | 48408630 | 48408630 | Human | 10 | name |
| 11612511 | CV340714 | single nucleotide variant | NM_000138.5(FBN1):c.*2091G>A | Acromicric dysplasia [RCV000356041]|Ectopia lentis 1, isolated, autosomal dominant [RCV000354953]|Familial thoracic aortic aneurysm and aortic dissection [RCV000319804]|Geleophysic dysplasia [RCV000304791]|Marfan syndrome [RCV000330197]|Stiff skin syndrome [RCV000275353]|Weill-Marchesani syndrome [R CV000403277]|not provided [RCV003391137] | likely benign|uncertain significance | 15 | 48408899 | 48408899 | Human | 8 | name |
| 11612886 | CV340715 | single nucleotide variant | NM_000138.5(FBN1):c.*1575T>G | Acromicric dysplasia [RCV000294620]|Ectopia lentis 1, isolated, autosomal dominant [RCV000276624]|Familial thoracic aortic aneurysm and aortic dissection [RCV000356014]|Geleophysic dysplasia [RCV000334072]|Marfan syndrome [RCV000381682]|Stiff skin syndrome [RCV000330398]|Weill-Marchesani syndrome [R CV000368857]|not provided [RCV001718649] | benign | 15 | 48409415 | 48409415 | Human | 8 | name |
| 11612893 | CV340716 | single nucleotide variant | NM_000138.5(FBN1):c.*1252A>G | Acromicric dysplasia [RCV000263318]|Ectopia lentis 1, isolated, autosomal dominant [RCV000276179]|Familial thoracic aortic aneurysm and aortic dissection [RCV000370706]|Geleophysic dysplasia [RCV000407560]|Marfan syndrome [RCV000331274]|Stiff skin syndrome [RCV000364551]|Weill-Marchesani syndrome [R CV000306316]|not provided [RCV002262991] | benign|likely benign|uncertain significance | 15 | 48409738 | 48409738 | Human | 8 | name |
| 11614640 | CV340718 | single nucleotide variant | NM_000138.5(FBN1):c.*1245C>T | Acromicric dysplasia [RCV000318453]|Ectopia lentis 1, isolated, autosomal dominant [RCV000278523]|Familial thoracic aortic aneurysm and aortic dissection [RCV000284615]|Geleophysic dysplasia [RCV000379062]|Marfan syndrome [RCV000399830]|Stiff skin syndrome [RCV000373063]|Weill-Marchesani syndrome [R CV000339596] | benign|likely benign|uncertain significance | 15 | 48409745 | 48409745 | Human | 8 | name |
| 12842959 | CV373571 | single nucleotide variant | NM_000138.5(FBN1):c.863-3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001186894]|Marfan syndrome [RCV000536781]|not provided [RCV001704458] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48526258 | 48526258 | Human | 3 | name |
| 12842314 | CV373573 | single nucleotide variant | NM_000138.5(FBN1):c.863-7A>G | Marfan syndrome [RCV002062382]|Marfan syndrome [RCV003996058]|not specified [RCV000434174] | likely benign | 15 | 48526262 | 48526262 | Human | 1 | name |
| 12840865 | CV373584 | single nucleotide variant | NM_000138.5(FBN1):c.736+9G>A | Marfan syndrome [RCV001489569]|not provided [RCV001810923]|not specified [RCV000431524] | likely benign | 15 | 48537602 | 48537602 | Human | 1 | name |
| 597895802 | CV3865569 | single nucleotide variant | NM_000138.5(FBN1):c.346+1G>A | Marfan syndrome [RCV005219547] | likely pathogenic | 15 | 48610727 | 48610727 | Human | 1 | name |
| 597884347 | CV3866319 | single nucleotide variant | NM_000138.5(FBN1):c.988+1G>A | Marfan syndrome [RCV005217795] | likely pathogenic | 15 | 48526129 | 48526129 | Human | 1 | name |
| 597907523 | CV3870339 | single nucleotide variant | NM_000138.5(FBN1):c.165-1G>T | Marfan syndrome [RCV005221390] | pathogenic | 15 | 48613093 | 48613093 | Human | 1 | name |
| 597907530 | CV3870340 | single nucleotide variant | NM_000138.5(FBN1):c.165-1G>A | Marfan syndrome [RCV005221391] | pathogenic | 15 | 48613093 | 48613093 | Human | 1 | name |
| 597910184 | CV3870895 | duplication | NM_000138.5(FBN1):c.737-6dup | Marfan syndrome [RCV005221757] | likely benign | 15 | 48534210 | 48534211 | Human | 1 | name |
| 597916111 | CV3879082 | single nucleotide variant | NM_000138.5(FBN1):c.989-1G>A | Marfan syndrome [RCV005222618] | pathogenic | 15 | 48520818 | 48520818 | Human | 1 | name |
| 12890438 | CV401046 | single nucleotide variant | NM_000138.5(FBN1):c.737-9A>G | Marfan syndrome [RCV000474618] | uncertain significance | 15 | 48534214 | 48534214 | Human | 1 | name |
| 12895500 | CV409301 | single nucleotide variant | NM_000138.5(FBN1):c.736+1G>A | not provided [RCV000486689] | likely pathogenic | 15 | 48537610 | 48537610 | Human | | name |
| 12901005 | CV409302 | deletion | NM_000138.5(FBN1):c.347-5del | Familial thoracic aortic aneurysm and aortic dissection [RCV001176562]|Marfan syndrome [RCV001514456]|not specified [RCV000483670] | benign|likely benign | 15 | 48600239 | 48600239 | Human | 3 | name |
| 12912731 | CV422041 | single nucleotide variant | NM_000138.5(FBN1):c.737-2A>G | not provided [RCV000492948] | likely pathogenic | 15 | 48534207 | 48534207 | Human | | name |
| 13491435 | CV464984 | single nucleotide variant | NM_000138.5(FBN1):c.443-1G>A | Marfan syndrome [RCV000534219]|not provided [RCV005231028] | pathogenic|likely pathogenic | 15 | 48596379 | 48596379 | Human | 1 | name |
| 13520294 | CV487744 | single nucleotide variant | NM_000138.5(FBN1):c.346+6T>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001185314]|Marfan syndrome [RCV001860119]|Marfan syndrome [RCV004002404]|not provided [RCV000587524] | uncertain significance | 15 | 48610722 | 48610722 | Human | 3 | name |
| 13518010 | CV487747 | single nucleotide variant | NM_000138.5(FBN1):c.164+2T>A | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV000586947] | likely pathogenic | 15 | 48644604 | 48644604 | Human | 1 | name |
| 13539510 | CV504870 | single nucleotide variant | NM_000138.5(FBN1):c.247+9A>C | Marfan syndrome [RCV002532756]|not specified [RCV000613383] | likely benign | 15 | 48613001 | 48613001 | Human | 1 | name |
| 13527900 | CV510646 | single nucleotide variant | NM_000138.5(FBN1):c.347-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002314316]|Marfan syndrome [RCV000663644]|Marfan syndrome [RCV001389969] | pathogenic|likely pathogenic | 15 | 48600236 | 48600236 | Human | 3 | name |
| 8605135 | CV51459 | single nucleotide variant | NM_000138.5(FBN1):c.164+5A>G | Ectopia lentis 1, isolated, autosomal dominant [RCV000763971]|Familial thoracic aortic aneurysm and aortic dissection [RCV001178635]|Marfan syndrome [RCV000796432]|not specified [RCV000035122] | likely benign|uncertain significance | 15 | 48644601 | 48644601 | Human | 10 | name |
| 8605136 | CV51460 | single nucleotide variant | NM_000138.5(FBN1):c.165-7G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001185754]|Marfan syndrome [RCV001494201]|Marfan syndrome [RCV003996183]|not specified [RCV000035123] | likely benign|uncertain significance | 15 | 48613099 | 48613099 | Human | 3 | name |
| 8605153 | CV51477 | single nucleotide variant | NM_000138.5(FBN1):c.247+1G>A | Cardiovascular phenotype [RCV005403732]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770680]|Marfan syndrome [RCV000035141]|Marfan syndrome [RCV000526514]|not provided [RCV000181642] | pathogenic | 15 | 48613009 | 48613009 | Human | 3 | name |
| 8605154 | CV51478 | duplication | NM_000138.5(FBN1):c.247+2dup | Familial thoracic aortic aneurysm and aortic dissection [RCV005338077]|Marfan syndrome [RCV000035142] | likely pathogenic|uncertain significance | 15 | 48613007 | 48613008 | Human | 3 | name |
| 13614500 | CV529026 | single nucleotide variant | NM_000138.5(FBN1):c.164+6G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001190266]|Marfan syndrome [RCV000632071] | uncertain significance | 15 | 48644600 | 48644600 | Human | 3 | name |
| 13705897 | CV536889 | single nucleotide variant | NM_000138.5(FBN1):c.442+1G>A | Ectopia lentis 1, isolated, autosomal dominant [RCV002485499]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528217]|Marfan syndrome [RCV000807677]|not provided [RCV000658447] | likely pathogenic|conflicting interpretations of pathogenicity | 15 | 48600138 | 48600138 | Human | 10 | name |
| 13703952 | CV539907 | single nucleotide variant | NM_000138.5(FBN1):c.989-1G>C | Marfan syndrome [RCV000664040] | pathogenic | 15 | 48520818 | 48520818 | Human | 1 | name |
| 13703941 | CV539912 | single nucleotide variant | NM_000138.5(FBN1):c.862+3A>G | Ectopia lentis 1, isolated, autosomal dominant [RCV002493078]|Marfan syndrome [RCV000664034]|Marfan syndrome [RCV005213371] | uncertain significance | 15 | 48534077 | 48534077 | Human | 2 | name |
| 13703589 | CV539925 | single nucleotide variant | NM_000138.5(FBN1):c.538+2T>C | Marfan syndrome [RCV000663783] | pathogenic | 15 | 48596281 | 48596281 | Human | 1 | name |
| 13703262 | CV539941 | single nucleotide variant | NM_000138.5(FBN1):c.248-3C>G | Marfan syndrome [RCV000663548] | likely pathogenic | 15 | 48610829 | 48610829 | Human | 1 | name |
| 13703259 | CV539942 | single nucleotide variant | NM_000138.5(FBN1):c.247+1G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003163052]|Marfan syndrome [RCV000663545]|Marfan syndrome [RCV005223092] | pathogenic|likely pathogenic | 15 | 48613009 | 48613009 | Human | 3 | name |
| 13703206 | CV539950 | single nucleotide variant | NM_000138.5(FBN1):c.164+1G>T | Marfan syndrome [RCV000663477] | likely pathogenic | 15 | 48644605 | 48644605 | Human | 1 | name |
| 13703205 | CV539951 | deletion | NM_000138.5(FBN1):c.164+1del | Marfan syndrome [RCV000663476]|Marfan syndrome [RCV002530605] | pathogenic|likely pathogenic | 15 | 48644605 | 48644605 | Human | 1 | name |
| 13804462 | CV569525 | single nucleotide variant | NM_000138.5(FBN1):c.247+3A>C | Marfan syndrome [RCV000699846] | likely pathogenic | 15 | 48613007 | 48613007 | Human | 1 | name |
| 14688727 | CV615227 | single nucleotide variant | NM_000138.5(FBN1):c.988+9A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV000769655] | uncertain significance | 15 | 48526121 | 48526121 | Human | 1 | name |
| 14692640 | CV619535 | single nucleotide variant | NM_000138.5(FBN1):c.165-4T>A | Familial thoracic aortic aneurysm and aortic dissection [RCV000774200] | uncertain significance | 15 | 48613096 | 48613096 | Human | 1 | name |
| 14718562 | CV652419 | single nucleotide variant | NM_000138.5(FBN1):c.165-2A>C | Marfan syndrome [RCV000795843] | pathogenic | 15 | 48613094 | 48613094 | Human | 1 | name |
| 14716880 | CV652568 | single nucleotide variant | NM_000138.5(FBN1):c.164+3A>C | Marfan syndrome [RCV000795256] | uncertain significance | 15 | 48644603 | 48644603 | Human | 1 | name |
| 15108615 | CV776082 | single nucleotide variant | NM_000138.5(FBN1):c.248-4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002427346]|Marfan syndrome [RCV001398876]|Marfan syndrome [RCV004003301] | likely benign|uncertain significance | 15 | 48610830 | 48610830 | Human | 3 | name |
| 28890134 | CV873702 | single nucleotide variant | NM_000138.5(FBN1):c.*2592T>C | Acromicric dysplasia [RCV001120503]|Ectopia lentis 1, isolated, autosomal dominant [RCV001120500]|Familial thoracic aortic aneurysm and aortic dissection [RCV001120504]|Marfan syndrome [RCV001120501]|Stiff skin syndrome [RCV001120502]|Weill-Marchesani syndrome [RCV001120499] | uncertain significance | 15 | 48408398 | 48408398 | Human | 7 | name |
| 28875147 | CV873703 | single nucleotide variant | NM_000138.5(FBN1):c.*2045G>A | Acromicric dysplasia [RCV001115770]|Ectopia lentis 1, isolated, autosomal dominant [RCV001115766]|Familial thoracic aortic aneurysm and aortic dissection [RCV001115768]|Geleophysic dysplasia [RCV001115771]|Marfan syndrome [RCV001115769]|Stiff skin syndrome [RCV001115767]|Weill-Marchesani syndrome [R CV001120689] | benign|likely benign|uncertain significance | 15 | 48408945 | 48408945 | Human | 8 | name |
| 28875154 | CV873704 | single nucleotide variant | NM_000138.5(FBN1):c.*2044C>T | Acromicric dysplasia [RCV001117203]|Ectopia lentis 1, isolated, autosomal dominant [RCV001115772]|Familial thoracic aortic aneurysm and aortic dissection [RCV001117201]|Marfan syndrome [RCV001117202]|Stiff skin syndrome [RCV001117200]|Weill-Marchesani syndrome [RCV001115773] | uncertain significance | 15 | 48408946 | 48408946 | Human | 7 | name |
| 28884725 | CV873705 | single nucleotide variant | NM_000138.5(FBN1):c.*2037T>C | Acromicric dysplasia [RCV001118827]|Ectopia lentis 1, isolated, autosomal dominant [RCV001118825]|Familial thoracic aortic aneurysm and aortic dissection [RCV001118828]|Marfan syndrome [RCV001118829]|Stiff skin syndrome [RCV001120789]|Weill-Marchesani syndrome [RCV001118826] | uncertain significance | 15 | 48408953 | 48408953 | Human | 7 | name |
| 28875329 | CV873706 | single nucleotide variant | NM_000138.5(FBN1):c.*1981C>T | Acromicric dysplasia [RCV001115851]|Ectopia lentis 1, isolated, autosomal dominant [RCV001117295]|Familial thoracic aortic aneurysm and aortic dissection [RCV001117298]|Marfan syndrome [RCV001117296]|Stiff skin syndrome [RCV001115850]|Weill-Marchesani syndrome [RCV001117297] | uncertain significance | 15 | 48409009 | 48409009 | Human | 7 | name |
| 28880384 | CV873707 | single nucleotide variant | NM_000138.5(FBN1):c.*1432A>T | Acromicric dysplasia [RCV001117517]|Ectopia lentis 1, isolated, autosomal dominant [RCV001119112]|Familial thoracic aortic aneurysm and aortic dissection [RCV001119113]|Marfan syndrome [RCV001117519]|Stiff skin syndrome [RCV001119114]|Weill-Marchesani syndrome [RCV001117518] | uncertain significance | 15 | 48409558 | 48409558 | Human | 7 | name |
| 28891758 | CV873708 | single nucleotide variant | NM_000138.5(FBN1):c.*1375A>C | Acromicric dysplasia [RCV001121096]|Ectopia lentis 1, isolated, autosomal dominant [RCV001121094]|Familial thoracic aortic aneurysm and aortic dissection [RCV001121095]|Marfan syndrome [RCV001121093]|Stiff skin syndrome [RCV001121092]|Weill-Marchesani syndrome [RCV001121097] | uncertain significance | 15 | 48409615 | 48409615 | Human | 7 | name |
| 28876149 | CV873709 | single nucleotide variant | NM_000138.5(FBN1):c.*1341C>T | Acromicric dysplasia [RCV001117628]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116191]|Familial thoracic aortic aneurysm and aortic dissection [RCV001116190]|Marfan syndrome [RCV001117629]|Stiff skin syndrome [RCV001117627]|Weill-Marchesani syndrome [RCV001117626]|not provided [RCV0022926 07] | benign|uncertain significance | 15 | 48409649 | 48409649 | Human | 7 | name |
| 28876506 | CV873710 | single nucleotide variant | NM_000138.5(FBN1):c.*1249A>G | Acromicric dysplasia [RCV001116300]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116299]|Familial thoracic aortic aneurysm and aortic dissection [RCV001116296]|Marfan syndrome [RCV001116297]|Stiff skin syndrome [RCV001116298]|Weill-Marchesani syndrome [RCV001116301] | uncertain significance | 15 | 48409741 | 48409741 | Human | 7 | name |
| 28886288 | CV873711 | single nucleotide variant | NM_000138.5(FBN1):c.*1201T>G | Acromicric dysplasia [RCV001119295]|Ectopia lentis 1, isolated, autosomal dominant [RCV001119292]|Familial thoracic aortic aneurysm and aortic dissection [RCV001119293]|Marfan syndrome [RCV001119294]|Stiff skin syndrome [RCV001121311]|Weill-Marchesani syndrome [RCV001121312] | uncertain significance | 15 | 48409789 | 48409789 | Human | 7 | name |
| 28892374 | CV873712 | single nucleotide variant | NM_000138.5(FBN1):c.*1122C>T | Acromicric dysplasia [RCV001121315]|Ectopia lentis 1, isolated, autosomal dominant [RCV001121316]|Familial thoracic aortic aneurysm and aortic dissection [RCV001121318]|Marfan syndrome [RCV001121317]|Stiff skin syndrome [RCV001121313]|Weill-Marchesani syndrome [RCV001121314] | uncertain significance | 15 | 48409868 | 48409868 | Human | 7 | name |
| 28893910 | CV904061 | single nucleotide variant | NM_000138.5(FBN1):c.247+5G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001170557]|Marfan syndrome [RCV001873575]|not provided [RCV005253727] | likely pathogenic|uncertain significance | 15 | 48613005 | 48613005 | Human | 3 | name |
| 34899752 | CV913053 | duplication | NM_000138.5(FBN1):c.-7_-6dup | Familial thoracic aortic aneurysm and aortic dissection [RCV001188919]|Marfan syndrome [RCV004807426] | uncertain significance | 15 | 48644774 | 48644775 | Human | 3 | name |
| 34892136 | CV915090 | single nucleotide variant | NM_000138.5(FBN1):c.164+4A>G | not specified [RCV001175566] | uncertain significance | 15 | 48644602 | 48644602 | Human | | name |
| 34896862 | CV916317 | single nucleotide variant | NM_000138.5(FBN1):c.989-5C>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001178692] | likely benign | 15 | 48520822 | 48520822 | Human | 1 | name |
| 34896846 | CV916318 | single nucleotide variant | NM_000138.5(FBN1):c.443-8T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001185947]|Marfan syndrome [RCV002067968] | likely benign | 15 | 48596386 | 48596386 | Human | 3 | name |
| 34901784 | CV916319 | single nucleotide variant | NM_000138.5(FBN1):c.247+3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001192253]|not provided [RCV001547825] | uncertain significance | 15 | 48613007 | 48613007 | Human | 1 | name |
| 34900280 | CV916321 | single nucleotide variant | NM_000138.5(FBN1):c.165-9T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001189794]|Marfan syndrome [RCV001490054] | likely benign | 15 | 48613101 | 48613101 | Human | 3 | name |
| 126748974 | CV1032055 | single nucleotide variant | NM_000138.5(FBN1):c.6997+3G>A | Marfan syndrome [RCV001337758] | uncertain significance | 15 | 48428343 | 48428343 | Human | 1 | name |
| 126756604 | CV1032059 | single nucleotide variant | NM_000138.5(FBN1):c.4337-5C>A | Marfan syndrome [RCV001339326]|Marfan syndrome [RCV004803641] | likely benign|uncertain significance | 15 | 48470761 | 48470761 | Human | 1 | name |
| 126923610 | CV1048997 | single nucleotide variant | NM_000138.5(FBN1):c.3208+5G>C | Marfan syndrome [RCV001366038] | uncertain significance | 15 | 48488363 | 48488363 | Human | 1 | name |
| 127243830 | CV1056235 | single nucleotide variant | NM_000138.5(FBN1):c.8051+2T>A | Marfan syndrome [RCV001377174] | likely pathogenic | 15 | 48415534 | 48415534 | Human | 1 | name |
| 127244502 | CV1056239 | single nucleotide variant | NM_000138.5(FBN1):c.4748-1G>A | Marfan syndrome [RCV001377265] | likely pathogenic | 15 | 48465859 | 48465859 | Human | 1 | name |
| 127254134 | CV1063295 | single nucleotide variant | NM_000138.5(FBN1):c.7454-1G>C | Marfan syndrome [RCV001386073] | pathogenic | 15 | 48422069 | 48422069 | Human | 1 | name |
| 127260233 | CV1063309 | single nucleotide variant | NM_000138.5(FBN1):c.6313+1G>A | Marfan syndrome [RCV001387307] | pathogenic | 15 | 48437767 | 48437767 | Human | 1 | name |
| 402514563 | CV1063316 | single nucleotide variant | NM_000138.5(FBN1):c.5672-2A>T | Marfan syndrome [RCV003780593] | likely pathogenic | 15 | 48446824 | 48446824 | Human | 1 | name |
| 127268195 | CV1063319 | single nucleotide variant | NM_000138.5(FBN1):c.5296+5G>A | Marfan syndrome [RCV001389173]|not provided [RCV001509489] | pathogenic|likely pathogenic | 15 | 48460241 | 48460241 | Human | 1 | name |
| 127265825 | CV1063321 | single nucleotide variant | NM_000138.5(FBN1):c.5066-1G>T | Marfan syndrome [RCV001381553]|not provided [RCV005054369] | pathogenic | 15 | 48463241 | 48463241 | Human | 1 | name |
| 127265659 | CV1063323 | single nucleotide variant | NM_000138.5(FBN1):c.4942+2T>C | Marfan syndrome [RCV001381516] | pathogenic | 15 | 48465566 | 48465566 | Human | 1 | name |
| 127259126 | CV1063358 | deletion | NM_000138.5(FBN1):c.2677+1del | Marfan syndrome [RCV001387086] | pathogenic | 15 | 48495122 | 48495122 | Human | 1 | name |
| 127258765 | CV1063365 | single nucleotide variant | NM_000138.5(FBN1):c.1838-2A>G | Marfan syndrome [RCV001387011] | pathogenic | 15 | 48505149 | 48505149 | Human | 1 | name |
| 127239060 | CV1081153 | single nucleotide variant | NM_000138.5(FBN1):c.6998-7C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003528296]|Marfan syndrome [RCV001397446]|Marfan syndrome [RCV004006874] | benign|likely benign | 15 | 48427780 | 48427780 | Human | 3 | name |
| 127247575 | CV1081162 | single nucleotide variant | NM_000138.5(FBN1):c.2678-9T>A | Marfan syndrome [RCV001399155] | likely benign | 15 | 48494263 | 48494263 | Human | 1 | name |
| 127252380 | CV1102983 | single nucleotide variant | NM_000138.5(FBN1):c.8051+7A>G | Marfan syndrome [RCV001425820]|not provided [RCV005256793] | likely benign | 15 | 48415529 | 48415529 | Human | 1 | name |
| 127244710 | CV1102989 | single nucleotide variant | NM_000138.5(FBN1):c.4817-8T>C | Marfan syndrome [RCV001435094] | likely benign | 15 | 48465701 | 48465701 | Human | 1 | name |
| 127263772 | CV1102990 | single nucleotide variant | NM_000138.5(FBN1):c.4747+7G>A | Marfan syndrome [RCV001428647] | likely benign | 15 | 48467931 | 48467931 | Human | 1 | name |
| 127275466 | CV1103004 | single nucleotide variant | NM_000138.5(FBN1):c.1327+7A>G | Marfan syndrome [RCV001432366] | likely benign | 15 | 48516176 | 48516176 | Human | 1 | name |
| 127286625 | CV1124424 | single nucleotide variant | NM_000138.5(FBN1):c.6314-6C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001526191]|Marfan syndrome [RCV001473482]|Marfan syndrome [RCV004007127] | likely benign | 15 | 48437393 | 48437393 | Human | 3 | name |
| 127294437 | CV1124425 | single nucleotide variant | NM_000138.5(FBN1):c.6163+9C>G | Marfan syndrome [RCV001459427]|not specified [RCV005237834] | likely benign | 15 | 48441712 | 48441712 | Human | 1 | name |
| 127329008 | CV1124430 | single nucleotide variant | NM_000138.5(FBN1):c.2539+9C>T | Marfan syndrome [RCV001469930] | likely benign | 15 | 48495460 | 48495460 | Human | 1 | name |
| 127330644 | CV1124433 | single nucleotide variant | NM_000138.5(FBN1):c.1147+7G>A | Marfan syndrome [RCV001471008]|not specified [RCV003155411] | likely benign | 15 | 48520652 | 48520652 | Human | 1 | name |
| 127319395 | CV1145279 | single nucleotide variant | NM_000138.5(FBN1):c.4582+7C>T | Marfan syndrome [RCV001483853] | likely benign | 15 | 48468405 | 48468405 | Human | 1 | name |
| 127288637 | CV1145280 | single nucleotide variant | NM_000138.5(FBN1):c.4337-8C>A | Marfan syndrome [RCV001495323] | likely benign | 15 | 48470764 | 48470764 | Human | 1 | name |
| 127289109 | CV1145282 | single nucleotide variant | NM_000138.5(FBN1):c.3713-5T>C | Marfan syndrome [RCV001495524] | likely benign | 15 | 48483948 | 48483948 | Human | 1 | name |
| 127330537 | CV1145286 | single nucleotide variant | NM_000138.5(FBN1):c.1589-7A>T | Marfan syndrome [RCV001488208] | likely benign | 15 | 48510176 | 48510176 | Human | 1 | name |
| 127289888 | CV1152651 | single nucleotide variant | NM_000138.5(FBN1):c.3337+2T>C | Marfan syndrome [RCV002564294]|not provided [RCV001509495] | pathogenic | 15 | 48488111 | 48488111 | Human | 1 | name |
| 127323426 | CV1161139 | single nucleotide variant | NM_000138.5(FBN1):c.6496+3G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001524040]|Marfan syndrome [RCV001872013]|Marfan syndrome [RCV004007250] | uncertain significance | 15 | 48436958 | 48436958 | Human | 3 | name |
| 127323971 | CV1161142 | single nucleotide variant | NM_000138.5(FBN1):c.6163+4A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001524368] | uncertain significance | 15 | 48441717 | 48441717 | Human | 1 | name |
| 127325317 | CV1161163 | single nucleotide variant | NM_000138.5(FBN1):c.4336+3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001525256] | uncertain significance | 15 | 48472548 | 48472548 | Human | 1 | name |
| 127326501 | CV1161180 | single nucleotide variant | NM_000138.5(FBN1):c.2168-4G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001526007]|Marfan syndrome [RCV003771614] | likely benign | 15 | 48497395 | 48497395 | Human | 3 | name |
| 127324734 | CV1161200 | single nucleotide variant | NM_000138.5(FBN1):c.347-12T>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001524862] | uncertain significance | 15 | 48600246 | 48600246 | Human | 1 | name |
| 150410288 | CV1177880 | single nucleotide variant | NM_000138.5(FBN1):c.7205-3C>G | not provided [RCV001546563] | uncertain significance | 15 | 48425867 | 48425867 | Human | | name |
| 150418665 | CV1181256 | single nucleotide variant | NM_000138.5(FBN1):c.4817-1G>A | not provided [RCV001550700] | pathogenic | 15 | 48465694 | 48465694 | Human | | name |
| 150412586 | CV1198632 | single nucleotide variant | NM_000138.5(FBN1):c.443-84G>A | not provided [RCV001574388] | likely benign | 15 | 48596462 | 48596462 | Human | | name |
| 150408172 | CV1200041 | single nucleotide variant | NM_000138.5(FBN1):c.4943-2A>G | not provided [RCV001580054] | pathogenic | 15 | 48464023 | 48464023 | Human | | name |
| 150407680 | CV1200042 | single nucleotide variant | NM_000138.5(FBN1):c.863-26C>T | not provided [RCV001579873] | likely benign | 15 | 48526281 | 48526281 | Human | | name |
| 150488384 | CV1208245 | single nucleotide variant | NM_000138.5(FBN1):c.247+95A>G | not provided [RCV001592105] | likely benign | 15 | 48612915 | 48612915 | Human | | name |
| 150438969 | CV1264903 | deletion | NM_000138.5(FBN1):c.737-26del | not provided [RCV001678896] | benign | 15 | 48534231 | 48534231 | Human | | name |
| 150496732 | CV1271604 | single nucleotide variant | NM_000138.5(FBN1):c.989-68G>T | not provided [RCV001688905] | benign | 15 | 48520885 | 48520885 | Human | | name |
| 150488251 | CV1283979 | single nucleotide variant | NM_000138.5(FBN1):c.989-93C>A | not provided [RCV001716072] | benign | 15 | 48520910 | 48520910 | Human | | name |
| 150520475 | CV1289684 | single nucleotide variant | NM_000138.5(FBN1):c.2729-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002425031]|Marfan syndrome [RCV001730103] | pathogenic|likely pathogenic | 15 | 48492588 | 48492588 | Human | 3 | name |
| 150520477 | CV1289685 | deletion | NM_000138.5(FBN1):c.6314-3del | Marfan syndrome [RCV001730104] | likely pathogenic | 15 | 48437390 | 48437390 | Human | 1 | name |
| 150534226 | CV1293377 | single nucleotide variant | NM_000138.5(FBN1):c.7819+5G>A | Marfan syndrome [RCV005050402]|not provided [RCV001756598] | likely pathogenic|uncertain significance | 15 | 48420682 | 48420682 | Human | 1 | name |
| 150534228 | CV1293379 | single nucleotide variant | NM_000138.5(FBN1):c.2728+3A>G | not provided [RCV001756600] | uncertain significance | 15 | 48494201 | 48494201 | Human | | name |
| 150541095 | CV1296272 | single nucleotide variant | NM_000138.5(FBN1):c.6872-4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV003298966]|not provided [RCV001767282] | uncertain significance | 15 | 48428475 | 48428475 | Human | 1 | name |
| 150543791 | CV1296643 | single nucleotide variant | NM_000138.5(FBN1):c.6739+5G>A | not provided [RCV001770880] | uncertain significance | 15 | 48432861 | 48432861 | Human | | name |
| 150533769 | CV1301820 | single nucleotide variant | NM_000138.5(FBN1):c.6997+4A>C | not provided [RCV001755192] | uncertain significance | 15 | 48428342 | 48428342 | Human | | name |
| 150540538 | CV1314663 | single nucleotide variant | NM_000138.5(FBN1):c.3338-1G>C | MASS syndrome [RCV005420409]|Marfan syndrome [RCV002034590]|not provided [RCV001781096] | pathogenic|likely pathogenic | 15 | 48487438 | 48487438 | Human | 2 | name |
| 152981274 | CV1315680 | single nucleotide variant | NM_000138.5(FBN1):c.4943-1G>C | Marfan syndrome [RCV002246036]|Marfan syndrome [RCV002544282] | pathogenic|likely pathogenic | 15 | 48464022 | 48464022 | Human | 1 | name |
| 152981276 | CV1315681 | deletion | NM_000138.5(FBN1):c.5422+1del | Marfan syndrome [RCV002246037] | likely pathogenic | 15 | 48456636 | 48456636 | Human | 1 | name |
| 152981287 | CV1315687 | single nucleotide variant | NM_000138.5(FBN1):c.5917+5G>A | Marfan syndrome [RCV002246043] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 48445371 | 48445371 | Human | 1 | name |
| 152981296 | CV1315692 | single nucleotide variant | NM_000138.5(FBN1):c.6379+2T>G | Marfan syndrome [RCV002246048]|Marfan syndrome [RCV003772162] | likely pathogenic | 15 | 48437320 | 48437320 | Human | 1 | name |
| 152981298 | CV1315693 | single nucleotide variant | NM_000138.5(FBN1):c.6379+5G>A | Marfan syndrome [RCV002246049]|Marfan syndrome [RCV002541219] | likely pathogenic|uncertain significance | 15 | 48437317 | 48437317 | Human | 1 | name |
| 152981309 | CV1315700 | single nucleotide variant | NM_000138.5(FBN1):c.6616+1G>T | Marfan syndrome [RCV002246056] | likely pathogenic | 15 | 48434593 | 48434593 | Human | 1 | name |
| 152981390 | CV1315746 | single nucleotide variant | NM_000138.5(FBN1):c.3083-1G>C | Marfan syndrome [RCV002246102] | likely pathogenic | 15 | 48488494 | 48488494 | Human | 1 | name |
| 152981395 | CV1315749 | single nucleotide variant | NM_000138.5(FBN1):c.3338-2A>G | Marfan syndrome [RCV002246105] | likely pathogenic | 15 | 48487439 | 48487439 | Human | 1 | name |
| 151232966 | CV1320041 | single nucleotide variant | NM_000138.5(FBN1):c.1468+4C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001799397] | uncertain significance | 15 | 48515383 | 48515383 | Human | 1 | name |
| 151233009 | CV1320060 | single nucleotide variant | NM_000138.5(FBN1):c.7820-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001799416] | likely pathogenic | 15 | 48415768 | 48415768 | Human | 1 | name |
| 151351159 | CV1321079 | single nucleotide variant | NM_000138.5(FBN1):c.863-36T>C | not provided [RCV001810763] | likely benign | 15 | 48526291 | 48526291 | Human | | name |
| 151348629 | CV1322636 | single nucleotide variant | NM_000138.5(FBN1):c.4817-3T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001804432] | likely benign | 15 | 48465696 | 48465696 | Human | 1 | name |
| 151350224 | CV1322987 | single nucleotide variant | NM_000138.5(FBN1):c.3082+4C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001805314] | uncertain significance | 15 | 48489847 | 48489847 | Human | 1 | name |
| 151350466 | CV1323066 | single nucleotide variant | NM_000138.5(FBN1):c.1961-9C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001805394] | uncertain significance | 15 | 48503948 | 48503948 | Human | 1 | name |
| 151350981 | CV1323234 | single nucleotide variant | NM_000138.5(FBN1):c.5224+3G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001805562] | uncertain significance | 15 | 48463079 | 48463079 | Human | 1 | name |
| 151351478 | CV1323477 | single nucleotide variant | NM_000138.5(FBN1):c.3589+1G>A | Arthrogryposis, renal dysfunction, and cholestasis 1 [RCV001806333] | pathogenic | 15 | 48487074 | 48487074 | Human | 1 | name |
| 151750412 | CV1335544 | single nucleotide variant | NM_000138.5(FBN1):c.5423-5C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003528340]|Marfan syndrome [RCV002074406]|Marfan syndrome [RCV004009170]|not provided [RCV001847386] | likely benign|conflicting interpretations of pathogenicity | 15 | 48452689 | 48452689 | Human | 3 | name |
| 151812260 | CV1347002 | single nucleotide variant | NM_000138.5(FBN1):c.3083-1G>T | Marfan syndrome [RCV002048971] | pathogenic|likely pathogenic | 15 | 48488494 | 48488494 | Human | 1 | name |
| 151872638 | CV1351689 | single nucleotide variant | NM_000138.5(FBN1):c.6497-3C>G | Marfan syndrome [RCV001998549] | uncertain significance | 15 | 48434716 | 48434716 | Human | 1 | name |
| 151874754 | CV1356647 | single nucleotide variant | NM_000138.5(FBN1):c.7330+3A>G | Marfan syndrome [RCV001925672] | uncertain significance | 15 | 48425736 | 48425736 | Human | 1 | name |
| 151765714 | CV1387572 | single nucleotide variant | NM_000138.5(FBN1):c.2113+4T>C | Marfan syndrome [RCV001987754] | uncertain significance | 15 | 48503783 | 48503783 | Human | 1 | name |
| 151768107 | CV1387869 | deletion | NM_000138.5(FBN1):c.4582+4del | Marfan syndrome [RCV001970913]|not provided [RCV003235641] | likely pathogenic|uncertain significance | 15 | 48468408 | 48468408 | Human | 1 | name |
| 151879956 | CV1388350 | single nucleotide variant | NM_000138.5(FBN1):c.4583-9G>A | Marfan syndrome [RCV001982388]|not provided [RCV003738117] | pathogenic|likely pathogenic|uncertain significance | 15 | 48468111 | 48468111 | Human | 1 | name |
| 151730103 | CV1388944 | single nucleotide variant | NM_000138.5(FBN1):c.5066-3T>C | Marfan syndrome [RCV001967015] | uncertain significance | 15 | 48463243 | 48463243 | Human | 1 | name |
| 151764723 | CV1407707 | single nucleotide variant | NM_000138.5(FBN1):c.7570+3G>A | Marfan syndrome [RCV002044664] | uncertain significance | 15 | 48421949 | 48421949 | Human | 1 | name |
| 151734655 | CV1409717 | single nucleotide variant | NM_000138.5(FBN1):c.7454-1G>T | Marfan syndrome [RCV001911246]|not provided [RCV003223735] | pathogenic | 15 | 48422069 | 48422069 | Human | 1 | name |
| 8691046 | CV141005 | single nucleotide variant | NM_000138.5(FBN1):c.2420-8T>C | Acromicric dysplasia [RCV000326569]|Ectopia lentis [RCV000301668]|Familial thoracic aortic aneurysm and aortic dissection [RCV000271453]|Geleophysic dysplasia [RCV000359876]|MASS syndrome [RCV000404502]|Marfan syndrome [RCV000305268]|Marfan syndrome [RCV000550392]|Stiff skin syndrome [RCV000365668]| Weill-Marchesani syndrome [RCV000404732]|not provided [RCV001796723]|not specified [RCV000124997] | benign|likely benign | 15 | 48495596 | 48495596 | Human | 10 | name |
| 8691048 | CV141007 | single nucleotide variant | NM_000138.5(FBN1):c.3082+6A>G | Acromicric dysplasia [RCV000353801]|Ectopia lentis 1, isolated, autosomal dominant [RCV000357104]|Ectopia lentis 1, isolated, autosomal dominant [RCV002498601]|Familial thoracic aortic aneurysm and aortic dissection [RCV000300233]|Geleophysic dysplasia [RCV000331361]|Marfan syndrome [RCV000369706]|M arfan syndrome [RCV001085985]|Stiff skin syndrome [RCV000305971]|Weill-Marchesani syndrome [RCV000394072]|not provided [RCV000514869]|not specified [RCV000150702] | benign|likely benign | 15 | 48489845 | 48489845 | Human | 12 | name |
| 8691049 | CV141008 | single nucleotide variant | NM_000138.5(FBN1):c.3464-5G>A | Acromicric dysplasia [RCV000331777]|Connective tissue disorder [RCV002277244]|Ectopia lentis 1, isolated, autosomal dominant [RCV000272132]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244497]|Geleophysic dysplasia [RCV000367794]|Marfan syndrome [RCV000333151]|Marfan syndrome [RCV0 01520055]|Stiff skin syndrome [RCV000329551]|Weill-Marchesani syndrome [RCV000275773]|not provided [RCV001812031]|not specified [RCV000154234] | benign | 15 | 48487205 | 48487205 | Human | 9 | name |
| 8691050 | CV141009 | single nucleotide variant | NM_000138.5(FBN1):c.3590-8T>C | Acromicric dysplasia [RCV001116603]|Ectopia lentis 1, isolated, autosomal dominant [RCV001116602]|FBN1-related disorder [RCV004542938]|Familial thoracic aortic aneurysm and aortic dissection [RCV000777979]|Geleophysic dysplasia [RCV001116604]|Marfan syndrome [RC V000463524]|Marfan syndrome [RCV001116601]|Stiff skin syndrome [RCV001116605]|Weill-Marchesani syndrome [RCV001116600]|not specified [RCV000125005] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48485504 | 48485504 | Human | 8 | name |
| 151869470 | CV1412076 | single nucleotide variant | NM_000138.5(FBN1):c.1960+6A>T | Marfan syndrome [RCV001884954] | uncertain significance | 15 | 48505019 | 48505019 | Human | 1 | name |
| 151826613 | CV1414816 | single nucleotide variant | NM_000138.5(FBN1):c.4816+4A>G | FBN1-related disorder [RCV004728913]|Marfan syndrome [RCV001920083]|Marfan syndrome [RCV004010804] | uncertain significance | 15 | 48465786 | 48465786 | Human | 3 | name |
| 151718868 | CV1421670 | single nucleotide variant | NM_000138.5(FBN1):c.4747+5G>A | Marfan syndrome [RCV001909409] | pathogenic|uncertain significance | 15 | 48467933 | 48467933 | Human | 1 | name |
| 151713262 | CV1428723 | single nucleotide variant | NM_000138.5(FBN1):c.6616+2T>C | Marfan syndrome [RCV002002411] | pathogenic | 15 | 48434592 | 48434592 | Human | 1 | name |
| 151825200 | CV1429493 | single nucleotide variant | NM_000138.5(FBN1):c.3464-1G>A | Marfan syndrome [RCV001993165] | pathogenic | 15 | 48487201 | 48487201 | Human | 1 | name |
| 151749573 | CV1430349 | single nucleotide variant | NM_000138.5(FBN1):c.2167+4A>G | Marfan syndrome [RCV002006723] | uncertain significance | 15 | 48498981 | 48498981 | Human | 1 | name |
| 151883699 | CV1432205 | single nucleotide variant | NM_000138.5(FBN1):c.3712+1G>T | Marfan syndrome [RCV002000108] | pathogenic | 15 | 48485373 | 48485373 | Human | 1 | name |
| 151747413 | CV1432358 | single nucleotide variant | NM_000138.5(FBN1):c.4748-2A>G | Marfan syndrome [RCV001985896] | likely pathogenic | 15 | 48465860 | 48465860 | Human | 1 | name |
| 151886430 | CV1435694 | single nucleotide variant | NM_000138.5(FBN1):c.6997+5G>A | Marfan syndrome [RCV001962757]|not provided [RCV003146388] | likely pathogenic|uncertain significance | 15 | 48428341 | 48428341 | Human | 1 | name |
| 151801586 | CV1439394 | single nucleotide variant | NM_000138.5(FBN1):c.8051+1G>A | Marfan syndrome [RCV001991005] | pathogenic|likely pathogenic | 15 | 48415535 | 48415535 | Human | 1 | name |
| 151735079 | CV1440592 | single nucleotide variant | NM_000138.5(FBN1):c.6740-2A>G | Marfan syndrome [RCV001911297] | pathogenic | 15 | 48430804 | 48430804 | Human | 1 | name |
| 151832433 | CV1447852 | deletion | NM_000138.5(FBN1):c.3209-3del | Marfan syndrome [RCV001920619] | uncertain significance | 15 | 48488244 | 48488244 | Human | 1 | name |
| 151740393 | CV1451742 | single nucleotide variant | NM_000138.5(FBN1):c.1147+2T>A | Marfan syndrome [RCV002022269] | likely pathogenic | 15 | 48520657 | 48520657 | Human | 1 | name |
| 151822005 | CV1453697 | single nucleotide variant | NM_000138.5(FBN1):c.6314-2A>C | Marfan syndrome [RCV001879301] | pathogenic | 15 | 48437389 | 48437389 | Human | 1 | name |
| 151784198 | CV1458283 | single nucleotide variant | NM_000138.5(FBN1):c.4336+1G>T | Marfan syndrome [RCV001972363] | pathogenic | 15 | 48472550 | 48472550 | Human | 1 | name |
| 151838203 | CV1468243 | single nucleotide variant | NM_000138.5(FBN1):c.2167+1G>A | Marfan syndrome [RCV001956420] | pathogenic | 15 | 48498984 | 48498984 | Human | 1 | name |
| 151762885 | CV1471431 | single nucleotide variant | NM_000138.5(FBN1):c.3082+1G>A | Marfan syndrome [RCV001949357] | pathogenic | 15 | 48489850 | 48489850 | Human | 1 | name |
| 151835657 | CV1471538 | single nucleotide variant | NM_000138.5(FBN1):c.4336+1G>A | Marfan syndrome [RCV001956135] | pathogenic | 15 | 48472550 | 48472550 | Human | 1 | name |
| 151827508 | CV1472042 | single nucleotide variant | NM_000138.5(FBN1):c.2855-2A>G | Marfan syndrome [RCV002030477]|Marfan syndrome [RCV003329122] | pathogenic|likely pathogenic | 15 | 48490080 | 48490080 | Human | 1 | name |
| 151740024 | CV1477692 | single nucleotide variant | NM_000138.5(FBN1):c.2729-1G>A | Marfan syndrome [RCV001947011] | pathogenic | 15 | 48492587 | 48492587 | Human | 1 | name |
| 151809653 | CV1478037 | deletion | NM_000138.5(FBN1):c.3464-1del | Marfan syndrome [RCV001953687] | pathogenic | 15 | 48487201 | 48487201 | Human | 1 | name |
| 151861435 | CV1483210 | single nucleotide variant | NM_000138.5(FBN1):c.988+17A>G | Marfan syndrome [RCV001883968] | likely benign | 15 | 48526113 | 48526113 | Human | 1 | name |
| 151854354 | CV1483519 | single nucleotide variant | NM_000138.5(FBN1):c.5672-8C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV005403144]|Marfan syndrome [RCV001937762] | likely benign|uncertain significance | 15 | 48446830 | 48446830 | Human | 3 | name |
| 151746601 | CV1485221 | single nucleotide variant | NM_000138.5(FBN1):c.3713-1G>T | Marfan syndrome [RCV002006377] | pathogenic|likely pathogenic | 15 | 48483944 | 48483944 | Human | 1 | name |
| 151785682 | CV1493971 | single nucleotide variant | NM_000138.5(FBN1):c.1468+1G>A | Marfan syndrome [RCV001951513]|not provided [RCV005416601] | pathogenic | 15 | 48515386 | 48515386 | Human | 1 | name |
| 151846486 | CV1495192 | single nucleotide variant | NM_000138.5(FBN1):c.4747+1G>A | Marfan syndrome [RCV001978349] | likely pathogenic | 15 | 48467937 | 48467937 | Human | 1 | name |
| 151787422 | CV1495574 | single nucleotide variant | NM_000138.5(FBN1):c.1588+1G>A | Marfan syndrome [RCV002026867] | likely pathogenic | 15 | 48513548 | 48513548 | Human | 1 | name |
| 151888537 | CV1517154 | single nucleotide variant | NM_000138.5(FBN1):c.6617-1G>C | Marfan syndrome [RCV002038421] | pathogenic|likely pathogenic | 15 | 48432989 | 48432989 | Human | 1 | name |
| 151742423 | CV1519344 | duplication | NM_000138.5(FBN1):c.3337+1dup | Ectopia lentis 1, isolated, autosomal dominant [RCV002053877] | likely pathogenic | 15 | 48488111 | 48488112 | Human | 1 | name |
| 152027854 | CV1521074 | single nucleotide variant | NM_000138.5(FBN1):c.164+12G>A | Ectopia lentis 1, isolated, autosomal dominant [RCV002498284]|Marfan syndrome [RCV002085268]|not specified [RCV004690243] | likely benign | 15 | 48644594 | 48644594 | Human | 2 | name |
| 152135773 | CV1528362 | single nucleotide variant | NM_000138.5(FBN1):c.2729-7T>C | Marfan syndrome [RCV002100095]|Marfan syndrome [RCV004804368] | likely benign | 15 | 48492593 | 48492593 | Human | 1 | name |
| 152068779 | CV1535225 | single nucleotide variant | NM_000138.5(FBN1):c.5917+8C>T | Marfan syndrome [RCV002091299] | likely benign | 15 | 48445368 | 48445368 | Human | 1 | name |
| 152041372 | CV1537725 | single nucleotide variant | NM_000138.5(FBN1):c.4583-9G>C | Marfan syndrome [RCV002165735] | likely benign | 15 | 48468111 | 48468111 | Human | 1 | name |
| 152153867 | CV1539905 | single nucleotide variant | NM_000138.5(FBN1):c.3964+9G>T | Marfan syndrome [RCV002139917] | likely benign | 15 | 48481646 | 48481646 | Human | 1 | name |
| 152129242 | CV1546343 | deletion | NM_000138.5(FBN1):c.4088-8del | Marfan syndrome [RCV002136718] | benign | 15 | 48474385 | 48474385 | Human | 1 | name |
| 152031569 | CV1546743 | single nucleotide variant | NM_000138.5(FBN1):c.7819+9C>T | Marfan syndrome [RCV002124584] | likely benign | 15 | 48420678 | 48420678 | Human | 1 | name |
| 152036237 | CV1553205 | single nucleotide variant | NM_000138.5(FBN1):c.7570+8G>A | Marfan syndrome [RCV002187544] | likely benign | 15 | 48421944 | 48421944 | Human | 1 | name |
| 152040478 | CV1553269 | single nucleotide variant | NM_000138.5(FBN1):c.442+17T>A | Marfan syndrome [RCV002087887] | likely benign | 15 | 48600122 | 48600122 | Human | 1 | name |
| 152155059 | CV1560906 | single nucleotide variant | NM_000138.5(FBN1):c.347-16C>G | Marfan syndrome [RCV002102819] | likely benign | 15 | 48600250 | 48600250 | Human | 1 | name |
| 152089236 | CV1563064 | single nucleotide variant | NM_000138.5(FBN1):c.1961-5T>C | Marfan syndrome [RCV002113841] | likely benign | 15 | 48503944 | 48503944 | Human | 1 | name |
| 152053952 | CV1574181 | single nucleotide variant | NM_000138.5(FBN1):c.3713-4G>A | Marfan syndrome [RCV002189736] | likely benign | 15 | 48483947 | 48483947 | Human | 1 | name |
| 152070623 | CV1581254 | single nucleotide variant | NM_000138.5(FBN1):c.164+18C>T | Marfan syndrome [RCV002091535] | likely benign | 15 | 48644588 | 48644588 | Human | 1 | name |
| 152128104 | CV1583712 | single nucleotide variant | NM_000138.5(FBN1):c.247+20G>A | Marfan syndrome [RCV002198957] | likely benign | 15 | 48612990 | 48612990 | Human | 1 | name |
| 152133371 | CV1590168 | single nucleotide variant | NM_000138.5(FBN1):c.2729-8C>A | Marfan syndrome [RCV002218381]|Marfan syndrome [RCV004005302] | likely benign|uncertain significance | 15 | 48492594 | 48492594 | Human | 1 | name |
| 152055096 | CV1590835 | duplication | NM_000138.5(FBN1):c.863-10dup | Marfan syndrome [RCV002109440] | benign | 15 | 48526264 | 48526265 | Human | 1 | name |
| 152088097 | CV1594799 | single nucleotide variant | NM_000138.5(FBN1):c.988+20G>T | Marfan syndrome [RCV002113690] | likely benign | 15 | 48526110 | 48526110 | Human | 1 | name |
| 152093437 | CV1598709 | single nucleotide variant | NM_000138.5(FBN1):c.862+13A>C | Marfan syndrome [RCV002172135] | likely benign | 15 | 48534067 | 48534067 | Human | 1 | name |
| 152149849 | CV1601510 | single nucleotide variant | NM_000138.5(FBN1):c.2113+8G>A | Marfan syndrome [RCV002158009] | likely benign | 15 | 48503779 | 48503779 | Human | 1 | name |
| 152077473 | CV1604760 | single nucleotide variant | NM_000138.5(FBN1):c.8227-6T>C | Marfan syndrome [RCV002092417] | likely benign | 15 | 48411385 | 48411385 | Human | 1 | name |
| 152040172 | CV1608880 | single nucleotide variant | NM_000138.5(FBN1):c.347-19C>A | Marfan syndrome [RCV002107622]|not specified [RCV005406333] | likely benign | 15 | 48600253 | 48600253 | Human | 1 | name |
| 152162580 | CV1608932 | single nucleotide variant | NM_000138.5(FBN1):c.5225-7A>G | Marfan syndrome [RCV002104079] | likely benign | 15 | 48460324 | 48460324 | Human | 1 | name |
| 152044472 | CV1622016 | deletion | NM_000138.5(FBN1):c.3209-7del | Marfan syndrome [RCV002108170]|Marfan syndrome [RCV004005377] | benign|uncertain significance | 15 | 48488248 | 48488248 | Human | 1 | name |
| 152082954 | CV1623654 | single nucleotide variant | NM_000138.5(FBN1):c.736+17G>A | Marfan syndrome [RCV002149552] | likely benign | 15 | 48537594 | 48537594 | Human | 1 | name |
| 152134989 | CV1642112 | single nucleotide variant | NM_000138.5(FBN1):c.4747+8G>A | Marfan syndrome [RCV002119579] | likely benign | 15 | 48467930 | 48467930 | Human | 1 | name |
| 152066308 | CV1646987 | single nucleotide variant | NM_000138.5(FBN1):c.3209-6G>C | Marfan syndrome [RCV002129021] | likely benign | 15 | 48488247 | 48488247 | Human | 1 | name |
| 152028276 | CV1655155 | single nucleotide variant | NM_000138.5(FBN1):c.736+10G>T | Marfan syndrome [RCV002105178] | likely benign | 15 | 48537601 | 48537601 | Human | 1 | name |
| 152166808 | CV1666399 | single nucleotide variant | NM_000138.5(FBN1):c.6164-5T>C | Ectopia lentis 1, isolated, autosomal dominant [RCV002204526]|Marfan syndrome [RCV003101218]|Marfan syndrome [RCV004005527] | likely benign|uncertain significance | 15 | 48437922 | 48437922 | Human | 2 | name |
| 152034944 | CV1670064 | single nucleotide variant | NM_000138.5(FBN1):c.1714+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV005403196]|Marfan syndrome [RCV003774670]|Marfan syndrome [RCV004005544]|not provided [RCV002223598] | uncertain significance | 15 | 48510040 | 48510040 | Human | 3 | name |
| 152985436 | CV1675121 | deletion | NM_000138.5(FBN1):c.5671+1del | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV002240076] | likely pathogenic | 15 | 48448767 | 48448767 | Human | 1 | name |
| 152999282 | CV1679548 | single nucleotide variant | NM_000138.5(FBN1):c.1714+2T>C | Marfan syndrome [RCV002250937]|Marfan syndrome [RCV003094075] | likely pathogenic | 15 | 48510042 | 48510042 | Human | 1 | name |
| 153345898 | CV1690860 | single nucleotide variant | NM_000138.5(FBN1):c.8227-8C>G | not specified [RCV002271759] | uncertain significance | 15 | 48411387 | 48411387 | Human | | name |
| 153345665 | CV1691287 | single nucleotide variant | NM_000138.5(FBN1):c.6313+5G>C | Marfan syndrome [RCV002272768] | uncertain significance | 15 | 48437763 | 48437763 | Human | 1 | name |
| 155266450 | CV1699016 | single nucleotide variant | NM_000138.5(FBN1):c.248-17C>G | not specified [RCV002282809] | uncertain significance | 15 | 48610843 | 48610843 | Human | | name |
| 9691651 | CV175980 | single nucleotide variant | NM_000138.5(FBN1):c.6997+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV003362691]|Marfan syndrome [RCV000232266]|not provided [RCV004589641]|not specified [RCV000150697] | likely pathogenic|uncertain significance | 15 | 48428342 | 48428342 | Human | 3 | name |
| 9689250 | CV175990 | single nucleotide variant | NM_000138.5(FBN1):c.247+10T>C | Acromicric dysplasia [RCV001117309]|Ectopia lentis 1, isolated, autosomal dominant [RCV001117305]|Familial thoracic aortic aneurysm and aortic dissection [RCV001117307]|Geleophysic dysplasia [RCV001117306]|Marfan syndrome [RCV000470957]|Marfan syndrome [RCV001117308]|Stiff skin syndrome [RCV00111892 9]|Weill-Marchesani syndrome [RCV001117304]|not provided [RCV005229990]|not specified [RCV000154719] | likely benign|uncertain significance | 15 | 48613000 | 48613000 | Human | 8 | name |
| 155715723 | CV1760455 | single nucleotide variant | NM_000138.5(FBN1):c.5672-4C>G | Marfan syndrome [RCV003097877]|not provided [RCV002300963] | uncertain significance | 15 | 48446826 | 48446826 | Human | 1 | name |
| 155720147 | CV1781232 | single nucleotide variant | NM_000138.5(FBN1):c.6314-2A>G | not provided [RCV002306308] | pathogenic | 15 | 48437389 | 48437389 | Human | | name |
| 9832365 | CV178690 | single nucleotide variant | NM_000138.5(FBN1):c.6739+2T>A | Marfan syndrome [RCV000157234]|Marfan syndrome [RCV001850181] | pathogenic|likely pathogenic | 15 | 48432864 | 48432864 | Human | 1 | name |
| 9832364 | CV178696 | single nucleotide variant | NM_000138.5(FBN1):c.4210+1G>A | FBN1-related disorder [RCV004535021]|Marfan syndrome [RCV000157233]|Marfan syndrome [RCV001850180] | pathogenic|likely pathogenic | 15 | 48474254 | 48474254 | Human | 3 | name |
| 9832363 | CV178698 | single nucleotide variant | NM_000138.5(FBN1):c.2113+2T>C | Marfan syndrome [RCV000157232] | likely pathogenic | 15 | 48503785 | 48503785 | Human | 1 | name |
| 155721834 | CV1789889 | single nucleotide variant | NM_000138.5(FBN1):c.3838+2T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002364044]|Marfan syndrome [RCV004005642] | pathogenic|likely pathogenic | 15 | 48483816 | 48483816 | Human | 3 | name |
| 155730155 | CV1796061 | single nucleotide variant | NM_000138.5(FBN1):c.1148-1G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002339830] | likely pathogenic | 15 | 48516363 | 48516363 | Human | 1 | name |
| 155728097 | CV1798248 | deletion | NM_000138.5(FBN1):c.4459+1del | Familial thoracic aortic aneurysm and aortic dissection [RCV002328399] | likely pathogenic | 15 | 48470633 | 48470633 | Human | 1 | name |
| 155739754 | CV1799179 | single nucleotide variant | NM_000138.5(FBN1):c.4942+2T>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002342692] | pathogenic | 15 | 48465566 | 48465566 | Human | 1 | name |
| 155673105 | CV1801237 | single nucleotide variant | NM_000138.5(FBN1):c.6313+3A>T | Familial thoracic aortic aneurysm and aortic dissection [RCV002368843] | likely pathogenic | 15 | 48437765 | 48437765 | Human | 1 | name |
| 155673110 | CV1801242 | single nucleotide variant | NM_000138.5(FBN1):c.6314-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002368844] | likely pathogenic | 15 | 48437388 | 48437388 | Human | 1 | name |
| 155720866 | CV1805464 | single nucleotide variant | NM_000138.5(FBN1):c.4817-1G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002337986] | pathogenic | 15 | 48465694 | 48465694 | Human | 1 | name |
| 155690184 | CV1808229 | single nucleotide variant | NM_000138.5(FBN1):c.6497-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002356256] | pathogenic | 15 | 48434715 | 48434715 | Human | 1 | name |
| 155734864 | CV1809660 | single nucleotide variant | NM_000138.5(FBN1):c.5224+4A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002340817]|Marfan syndrome [RCV005227629] | uncertain significance | 15 | 48463078 | 48463078 | Human | 3 | name |
| 155676087 | CV1810402 | single nucleotide variant | NM_000138.5(FBN1):c.5546-3C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002351904]|Marfan syndrome [RCV003096787] | uncertain significance | 15 | 48448896 | 48448896 | Human | 3 | name |
| 155717851 | CV1827638 | single nucleotide variant | NM_000138.5(FBN1):c.1588+3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002398355] | uncertain significance | 15 | 48513546 | 48513546 | Human | 1 | name |
| 155671184 | CV1829151 | single nucleotide variant | NM_000138.5(FBN1):c.1328-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002385829] | pathogenic | 15 | 48515528 | 48515528 | Human | 1 | name |
| 155797057 | CV1863155 | single nucleotide variant | NM_000138.5(FBN1):c.2294-1G>C | Marfan syndrome [RCV002470429] | likely pathogenic | 15 | 48496226 | 48496226 | Human | 1 | name |
| 155800546 | CV1863673 | single nucleotide variant | NM_000138.5(FBN1):c.3965-3C>G | not provided [RCV002474096] | likely pathogenic | 15 | 48474653 | 48474653 | Human | | name |
| 156209313 | CV1871283 | single nucleotide variant | NM_000138.5(FBN1):c.8052-2A>G | Marfan syndrome [RCV003058465] | pathogenic|likely pathogenic | 15 | 48412745 | 48412745 | Human | 1 | name |
| 156209336 | CV1871288 | single nucleotide variant | NM_000138.5(FBN1):c.6739+1G>T | Marfan syndrome [RCV003058466] | pathogenic | 15 | 48432865 | 48432865 | Human | 1 | name |
| 156341693 | CV1871298 | single nucleotide variant | NM_000138.5(FBN1):c.5296+1G>A | Marfan syndrome [RCV003064267] | pathogenic | 15 | 48460245 | 48460245 | Human | 1 | name |
| 156341743 | CV1871304 | single nucleotide variant | NM_000138.5(FBN1):c.4459+1G>A | Marfan syndrome [RCV003064270] | pathogenic | 15 | 48470633 | 48470633 | Human | 1 | name |
| 156177589 | CV1871309 | single nucleotide variant | NM_000138.5(FBN1):c.2854+1G>A | Marfan syndrome [RCV003041235] | pathogenic | 15 | 48492460 | 48492460 | Human | 1 | name |
| 156341881 | CV1871318 | single nucleotide variant | NM_000138.5(FBN1):c.1468+1G>C | Marfan syndrome [RCV003064278] | pathogenic | 15 | 48515386 | 48515386 | Human | 1 | name |
| 156409391 | CV1874109 | single nucleotide variant | NM_000138.5(FBN1):c.2854+7A>G | FBN1-related disorder [RCV004540524]|Marfan syndrome [RCV003071653] | likely benign | 15 | 48492454 | 48492454 | Human | 3 | name |
| 156026278 | CV1883314 | single nucleotide variant | NM_000138.5(FBN1):c.989-10T>A | Marfan syndrome [RCV003077887]|Marfan syndrome [RCV004009379]|not specified [RCV004783007] | likely benign|uncertain significance | 15 | 48520827 | 48520827 | Human | 1 | name |
| 156381079 | CV1893604 | single nucleotide variant | NM_000138.5(FBN1):c.3083-9T>C | Marfan syndrome [RCV003093278]|Marfan syndrome [RCV004009381] | likely benign | 15 | 48488502 | 48488502 | Human | 1 | name |
| 156413819 | CV1905555 | single nucleotide variant | NM_000138.5(FBN1):c.443-20G>A | Marfan syndrome [RCV003073458] | likely benign | 15 | 48596398 | 48596398 | Human | 1 | name |
| 156309102 | CV1912837 | single nucleotide variant | NM_000138.5(FBN1):c.4747+8G>C | Marfan syndrome [RCV002599549] | likely benign | 15 | 48467930 | 48467930 | Human | 1 | name |
| 156271794 | CV1915365 | single nucleotide variant | NM_000138.5(FBN1):c.2293+8G>A | Marfan syndrome [RCV002628121] | likely benign | 15 | 48497258 | 48497258 | Human | 1 | name |
| 156290414 | CV1926478 | single nucleotide variant | NM_000138.5(FBN1):c.1961-3T>C | Marfan syndrome [RCV002628789] | uncertain significance | 15 | 48503942 | 48503942 | Human | 1 | name |
| 156357103 | CV1927096 | single nucleotide variant | NM_000138.5(FBN1):c.4583-6A>T | Marfan syndrome [RCV002651365] | likely benign | 15 | 48468108 | 48468108 | Human | 1 | name |
| 10051392 | CV193320 | single nucleotide variant | NM_000138.5(FBN1):c.3464-6C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001184495]|Marfan syndrome [RCV001393044]|Marfan syndrome [RCV003995687]|not provided [RCV000590251] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48487206 | 48487206 | Human | 3 | name |
| 156434911 | CV1940254 | single nucleotide variant | NM_000138.5(FBN1):c.1148-6T>C | Marfan syndrome [RCV003104667] | likely benign | 15 | 48516368 | 48516368 | Human | 1 | name |
| 156441568 | CV1940891 | single nucleotide variant | NM_000138.5(FBN1):c.6739+4A>G | Marfan syndrome [RCV003111895] | uncertain significance | 15 | 48432862 | 48432862 | Human | 1 | name |
| 156441975 | CV1941637 | single nucleotide variant | NM_000138.5(FBN1):c.2114-1G>A | Marfan syndrome [RCV003112311] | pathogenic | 15 | 48499039 | 48499039 | Human | 1 | name |
| 156448268 | CV1946429 | single nucleotide variant | NM_000138.5(FBN1):c.6163+8T>G | Marfan syndrome [RCV003119827] | likely benign | 15 | 48441713 | 48441713 | Human | 1 | name |
| 156311487 | CV1969577 | single nucleotide variant | NM_000138.5(FBN1):c.4088-8T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV005403226]|Marfan syndrome [RCV002578718]|Marfan syndrome [RCV004007498] | likely benign | 15 | 48474385 | 48474385 | Human | 3 | name |
| 10055120 | CV197579 | single nucleotide variant | NM_000138.5(FBN1):c.8226+5G>A | Marfan syndrome [RCV000631943]|not provided [RCV001812167] | pathogenic|likely pathogenic | 15 | 48412564 | 48412564 | Human | 1 | name |
| 10055113 | CV197593 | single nucleotide variant | NM_000138.4(FBN1):c.7820-5T>G | Thoracic aortic aneurysm and aortic dissection [RCV000181616]|Thoracic aortic aneurysms and aortic dissections [RCV000181616] | uncertain significance | 15 | 48415772 | 48415772 | Human | | name |
| 10055112 | CV197594 | single nucleotide variant | NM_000138.5(FBN1):c.7819+4A>G | Marfan syndrome [RCV000663983]|Marfan syndrome [RCV001852284]|not provided [RCV000181615] | uncertain significance | 15 | 48420683 | 48420683 | Human | 1 | name |
| 10055097 | CV197610 | single nucleotide variant | NM_000138.5(FBN1):c.7205-1G>A | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV001328430]|Marfan syndrome [RCV001380006]|not provided [RCV000181593] | pathogenic|likely pathogenic | 15 | 48425865 | 48425865 | Human | 2 | name |
| 10055087 | CV197625 | single nucleotide variant | NM_000138.5(FBN1):c.6872-9A>G | Marfan syndrome [RCV001060700]|not provided [RCV000181582] | uncertain significance | 15 | 48428480 | 48428480 | Human | 1 | name |
| 10055086 | CV197626 | single nucleotide variant | NM_000138.5(FBN1):c.6871+1G>T | Marfan syndrome [RCV001038927] | pathogenic | 15 | 48430670 | 48430670 | Human | 1 | name |
| 10055066 | CV197656 | single nucleotide variant | NM_000138.5(FBN1):c.6164-2A>T | not provided [RCV000181558] | pathogenic | 15 | 48437919 | 48437919 | Human | | name |
| 10055065 | CV197657 | single nucleotide variant | NM_000138.5(FBN1):c.6164-3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV000777847]|Marfan syndrome [RCV000549219]|Marfan syndrome [RCV001333241]|not provided [RCV001704867]|not specified [RCV000181557] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48437920 | 48437920 | Human | 3 | name |
| 10055158 | CV197658 | duplication | NM_000138.5(FBN1):c.6163+2dup | Familial thoracic aortic aneurysm and aortic dissection [RCV000181670]|Marfan syndrome [RCV001239673]|Marfan syndrome [RCV002470796]|not specified [RCV003317131] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48441718 | 48441719 | Human | 3 | name |
| 156416436 | CV1976604 | single nucleotide variant | NM_000138.5(FBN1):c.3082+8G>A | Marfan syndrome [RCV002589693] | likely benign | 15 | 48489843 | 48489843 | Human | 1 | name |
| 10054941 | CV197665 | single nucleotide variant | NM_000138.5(FBN1):c.5917+3A>G | Acromicric dysplasia [RCV000362544]|Ectopia lentis [RCV000311237]|FBN1-related disorder [RCV004737288]|Familial thoracic aortic aneurysm and aortic dissection [RCV000389993]|Geleophysic dysplasia [RCV000271534]|MASS syndrome [RCV000328941]|Marfan syndrome [RCV00 0270358]|Marfan syndrome [RCV000688484]|Stiff skin syndrome [RCV000322623]|Weill-Marchesani syndrome [RCV000368202]|not specified [RCV000181407] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48445373 | 48445373 | Human | 10 | name |
| 10055037 | CV197696 | single nucleotide variant | NM_000138.5(FBN1):c.4460-9C>A | Marfan syndrome [RCV002517772]|not provided [RCV000181522] | pathogenic|uncertain significance | 15 | 48468543 | 48468543 | Human | 1 | name |
| 10055025 | CV197703 | single nucleotide variant | NM_000138.5(FBN1):c.4337-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002314681]|Marfan syndrome [RCV000659542]|not provided [RCV000181506] | pathogenic|likely pathogenic | 15 | 48470758 | 48470758 | Human | 3 | name |
| 10055019 | CV197716 | single nucleotide variant | NM_000138.5(FBN1):c.3964+1G>A | not provided [RCV000181500] | pathogenic | 15 | 48481654 | 48481654 | Human | | name |
| 10055017 | CV197718 | single nucleotide variant | NM_000138.5(FBN1):c.3839-1G>T | not provided [RCV000181497] | pathogenic | 15 | 48481781 | 48481781 | Human | | name |
| 10055014 | CV197722 | single nucleotide variant | NM_000138.5(FBN1):c.3712+1G>A | not provided [RCV000181494] | pathogenic | 15 | 48485373 | 48485373 | Human | | name |
| 10055165 | CV197750 | single nucleotide variant | NM_000138.5(FBN1):c.2728+1G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002426872]|Marfan syndrome [RCV000705129]|not provided [RCV000181678] | pathogenic|likely pathogenic | 15 | 48494203 | 48494203 | Human | 3 | name |
| 156419569 | CV1977513 | single nucleotide variant | NM_000138.5(FBN1):c.4336+9T>A | Marfan syndrome [RCV002612806] | likely benign | 15 | 48472542 | 48472542 | Human | 1 | name |
| 10054989 | CV197762 | single nucleotide variant | NM_000138.5(FBN1):c.2539+1G>A | Marfan syndrome [RCV000631979]|not provided [RCV000181462] | pathogenic|likely pathogenic | 15 | 48495468 | 48495468 | Human | 1 | name |
| 10055171 | CV197767 | single nucleotide variant | NM_000138.5(FBN1):c.2293+5G>A | not provided [RCV000181686] | likely pathogenic | 15 | 48497261 | 48497261 | Human | | name |
| 10054960 | CV197797 | single nucleotide variant | NM_000138.5(FBN1):c.1468+2T>C | Marfan syndrome [RCV002516834]|not provided [RCV000181431] | pathogenic | 15 | 48515385 | 48515385 | Human | 1 | name |
| 10054956 | CV197805 | single nucleotide variant | NM_000138.5(FBN1):c.1148-2A>C | not provided [RCV000181426] | pathogenic | 15 | 48516364 | 48516364 | Human | | name |
| 155925392 | CV1987762 | single nucleotide variant | NM_000138.5(FBN1):c.988+14C>A | Marfan syndrome [RCV002614743] | likely benign | 15 | 48526116 | 48526116 | Human | 1 | name |
| 156106836 | CV1992328 | single nucleotide variant | NM_000138.5(FBN1):c.538+12T>A | Marfan syndrome [RCV002622418] | likely benign | 15 | 48596271 | 48596271 | Human | 1 | name |
| 156107950 | CV1996804 | single nucleotide variant | NM_000138.5(FBN1):c.988+16A>T | Marfan syndrome [RCV002662372] | likely benign | 15 | 48526114 | 48526114 | Human | 1 | name |
| 156269018 | CV2008086 | single nucleotide variant | NM_000138.5(FBN1):c.6997+8C>T | Marfan syndrome [RCV002714915] | likely benign | 15 | 48428338 | 48428338 | Human | 1 | name |
| 156094573 | CV2012739 | single nucleotide variant | NM_000138.5(FBN1):c.2293+8G>T | Marfan syndrome [RCV002706436] | likely benign | 15 | 48497258 | 48497258 | Human | 1 | name |
| 156017807 | CV2020434 | single nucleotide variant | NM_000138.5(FBN1):c.5296+8A>C | Marfan syndrome [RCV002735226] | likely benign | 15 | 48460238 | 48460238 | Human | 1 | name |
| 156344695 | CV2051784 | single nucleotide variant | NM_000138.5(FBN1):c.3208+7T>A | Marfan syndrome [RCV002811394] | likely benign | 15 | 48488361 | 48488361 | Human | 1 | name |
| 156092013 | CV2054524 | deletion | NM_000138.5(FBN1):c.3589+1del | Marfan syndrome [RCV002824223] | likely pathogenic | 15 | 48487074 | 48487074 | Human | 1 | name |
| 156017291 | CV2061703 | single nucleotide variant | NM_000138.5(FBN1):c.1714+7A>G | Marfan syndrome [RCV002820440] | likely benign | 15 | 48510037 | 48510037 | Human | 1 | name |
| 155944404 | CV2062085 | single nucleotide variant | NM_000138.5(FBN1):c.4817-7T>C | Marfan syndrome [RCV002815895] | likely benign | 15 | 48465700 | 48465700 | Human | 1 | name |
| 155944431 | CV2062088 | single nucleotide variant | NM_000138.5(FBN1):c.4211-5T>C | Marfan syndrome [RCV002815897] | likely benign | 15 | 48472681 | 48472681 | Human | 1 | name |
| 155944818 | CV2062117 | single nucleotide variant | NM_000138.5(FBN1):c.6871+8G>C | Marfan syndrome [RCV002815920] | likely benign | 15 | 48430663 | 48430663 | Human | 1 | name |
| 156210679 | CV2074217 | single nucleotide variant | NM_000138.5(FBN1):c.1469-6T>G | Marfan syndrome [RCV002829284] | likely benign | 15 | 48513674 | 48513674 | Human | 1 | name |
| 156172721 | CV2075665 | single nucleotide variant | NM_000138.5(FBN1):c.2678-8T>C | Marfan syndrome [RCV002851582] | likely benign | 15 | 48494262 | 48494262 | Human | 1 | name |
| 155961927 | CV2080505 | single nucleotide variant | NM_000138.5(FBN1):c.6314-6C>G | Marfan syndrome [RCV002862899] | likely benign | 15 | 48437393 | 48437393 | Human | 1 | name |
| 155901762 | CV2083856 | deletion | NM_000138.5(FBN1):c.1468+5del | Marfan syndrome [RCV002857903] | uncertain significance | 15 | 48515382 | 48515382 | Human | 1 | name |
| 155949889 | CV2084261 | single nucleotide variant | NM_000138.5(FBN1):c.6740-1G>C | Marfan syndrome [RCV002880439] | pathogenic | 15 | 48430803 | 48430803 | Human | 1 | name |
| 156097701 | CV2087835 | single nucleotide variant | NM_000138.5(FBN1):c.1960+9A>G | Marfan syndrome [RCV002847960] | likely benign | 15 | 48505016 | 48505016 | Human | 1 | name |
| 156137657 | CV2094353 | single nucleotide variant | NM_000138.5(FBN1):c.164+13G>T | Marfan syndrome [RCV002890181] | likely benign | 15 | 48644593 | 48644593 | Human | 1 | name |
| 155931008 | CV2096049 | single nucleotide variant | NM_000138.5(FBN1):c.4583-2A>G | Marfan syndrome [RCV002903826] | pathogenic | 15 | 48468104 | 48468104 | Human | 1 | name |
| 156091355 | CV2102685 | single nucleotide variant | NM_000138.5(FBN1):c.1468+1G>T | Marfan syndrome [RCV002913049] | pathogenic | 15 | 48515386 | 48515386 | Human | 1 | name |
| 156295566 | CV2119213 | single nucleotide variant | NM_000138.5(FBN1):c.6872-7C>T | Marfan syndrome [RCV002961906] | likely benign | 15 | 48428478 | 48428478 | Human | 1 | name |
| 156014529 | CV2134009 | single nucleotide variant | NM_000138.5(FBN1):c.6617-7G>C | Marfan syndrome [RCV003017922] | likely benign | 15 | 48432995 | 48432995 | Human | 1 | name |
| 156324118 | CV2134380 | duplication | NM_000138.5(FBN1):c.6997+5dup | Marfan syndrome [RCV002963408] | uncertain significance | 15 | 48428340 | 48428341 | Human | 1 | name |
| 155974856 | CV2136028 | single nucleotide variant | NM_000138.5(FBN1):c.1715-9T>C | Marfan syndrome [RCV002995800]|Marfan syndrome [RCV004804530] | likely benign | 15 | 48508713 | 48508713 | Human | 1 | name |
| 156012090 | CV2137296 | duplication | NM_000138.5(FBN1):c.5066-5dup | Marfan syndrome [RCV003017799] | likely benign | 15 | 48463244 | 48463245 | Human | 1 | name |
| 156265635 | CV2139929 | single nucleotide variant | NM_000138.5(FBN1):c.164+16C>T | Marfan syndrome [RCV003009082] | likely benign | 15 | 48644590 | 48644590 | Human | 1 | name |
| 156042169 | CV2143512 | single nucleotide variant | NM_000138.5(FBN1):c.6313+9G>A | Marfan syndrome [RCV002999567] | likely benign | 15 | 48437759 | 48437759 | Human | 1 | name |
| 156297261 | CV2159207 | single nucleotide variant | NM_000138.5(FBN1):c.8052-5T>C | Marfan syndrome [RCV003045387] | likely benign | 15 | 48412748 | 48412748 | Human | 1 | name |
| 156146571 | CV2160599 | single nucleotide variant | NM_000138.5(FBN1):c.2854+4A>G | Marfan syndrome [RCV003022707] | uncertain significance | 15 | 48492457 | 48492457 | Human | 1 | name |
| 156073283 | CV2165291 | single nucleotide variant | NM_000138.5(FBN1):c.3590-9T>A | Marfan syndrome [RCV003037633] | likely benign | 15 | 48485505 | 48485505 | Human | 1 | name |
| 156221863 | CV2168376 | single nucleotide variant | NM_000138.5(FBN1):c.7700-7T>C | Marfan syndrome [RCV003042754] | likely benign | 15 | 48420813 | 48420813 | Human | 1 | name |
| 156394794 | CV2181910 | single nucleotide variant | NM_000138.5(FBN1):c.862+14T>G | Marfan syndrome [RCV003051746] | likely benign | 15 | 48534066 | 48534066 | Human | 1 | name |
| 11040298 | CV224489 | single nucleotide variant | NM_000138.5(FBN1):c.6739+1G>A | Marfan syndrome [RCV000208077]|Marfan syndrome [RCV001056082] | pathogenic|likely pathogenic | 15 | 48432865 | 48432865 | Human | 1 | name |
| 11040390 | CV224492 | single nucleotide variant | NM_000138.5(FBN1):c.5918-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002354586]|Marfan syndrome [RCV000208432]|Marfan syndrome [RCV000532804]|not provided [RCV004696873] | pathogenic|likely pathogenic | 15 | 48444662 | 48444662 | Human | 3 | name |
| 11075222 | CV227463 | single nucleotide variant | NM_000138.5(FBN1):c.8226+1G>A | Marfan syndrome [RCV000631959]|Marfan syndrome [RCV000664017]|Progeroid and marfanoid aspect-lipodystrophy syndrome [RCV000210934]|not provided [RCV001566353] | pathogenic|likely pathogenic | 15 | 48412568 | 48412568 | Human | 4 | name |
| 11088068 | CV230586 | single nucleotide variant | NM_000138.5(FBN1):c.5225-3C>A | Marfan syndrome [RCV001305947]|not provided [RCV001582735]|not specified [RCV000213111] | uncertain significance | 15 | 48460320 | 48460320 | Human | 1 | name |
| 11090966 | CV230588 | deletion | NM_000138.5(FBN1):c.1714+2del | Marfan syndrome [RCV000216719] | likely pathogenic | 15 | 48510042 | 48510042 | Human | 1 | name |
| 243063743 | CV2405224 | single nucleotide variant | NM_000138.5(FBN1):c.6497-1G>A | Marfan syndrome [RCV003142357] | likely pathogenic | 15 | 48434714 | 48434714 | Human | 1 | name |
| 243052663 | CV2416197 | single nucleotide variant | NM_000138.5(FBN1):c.6379+5G>T | not provided [RCV003149258] | uncertain significance | 15 | 48437317 | 48437317 | Human | | name |
| 243055859 | CV2416593 | single nucleotide variant | NM_000138.5(FBN1):c.5297-8G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV003150678] | uncertain significance | 15 | 48456770 | 48456770 | Human | 1 | name |
| 243055862 | CV2416596 | single nucleotide variant | NM_000138.5(FBN1):c.2419+8A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV003150681] | uncertain significance | 15 | 48496092 | 48496092 | Human | 1 | name |
| 243055952 | CV2416700 | single nucleotide variant | NM_000138.5(FBN1):c.7453+3A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV003150785] | uncertain significance | 15 | 48425366 | 48425366 | Human | 1 | name |
| 11351592 | CV242061 | single nucleotide variant | NM_000138.5(FBN1):c.6313+5G>A | Marfan syndrome [RCV000229033]|not provided [RCV001559866] | pathogenic|uncertain significance | 15 | 48437763 | 48437763 | Human | 1 | name |
| 11346930 | CV242065 | single nucleotide variant | NM_000138.5(FBN1):c.5423-4G>A | FBN1-related disorder [RCV004541367]|Familial thoracic aortic aneurysm and aortic dissection [RCV001186933]|Marfan syndrome [RCV001089035]|not provided [RCV000726081]|not specified [RCV000277311] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48452688 | 48452688 | Human | 3 | name |
| 11346026 | CV242067 | single nucleotide variant | NM_000138.5(FBN1):c.5066-7C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001185254]|Marfan syndrome [RCV001087425]|Marfan syndrome [RCV003998705]|not provided [RCV000827550]|not specified [RCV003488482] | likely benign|uncertain significance | 15 | 48463247 | 48463247 | Human | 3 | name |
| 11351258 | CV242078 | single nucleotide variant | NM_000138.5(FBN1):c.1961-7T>C | FBN1-related disorder [RCV004541366]|Familial thoracic aortic aneurysm and aortic dissection [RCV001184020]|Marfan syndrome [RCV001406817]|Marfan syndrome [RCV003998703]|not specified [RCV000607743] | likely benign|conflicting interpretations of pathogenicity | 15 | 48503946 | 48503946 | Human | 3 | name |
| 329380857 | CV2427072 | single nucleotide variant | NM_000138.5(FBN1):c.2294-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003187813] | likely pathogenic | 15 | 48496226 | 48496226 | Human | 1 | name |
| 401830009 | CV2476321 | single nucleotide variant | NM_000138.5(FBN1):c.7699+2T>C | Marfan syndrome [RCV003329135] | pathogenic | 15 | 48421556 | 48421556 | Human | 1 | name |
| 329351352 | CV2478010 | single nucleotide variant | NM_000138.5(FBN1):c.6037+9G>A | Ectopia lentis 1, isolated, autosomal dominant [RCV003224676] | uncertain significance | 15 | 48444532 | 48444532 | Human | 1 | name |
| 11551765 | CV255254 | single nucleotide variant | NM_000138.5(FBN1):c.6616+7C>G | Marfan syndrome [RCV001452458]|not specified [RCV000253467] | likely benign | 15 | 48434587 | 48434587 | Human | 1 | name |
| 11549779 | CV255276 | single nucleotide variant | NM_000138.5(FBN1):c.442+15G>T | Marfan syndrome [RCV002057313]|not provided [RCV005230187]|not specified [RCV000250860] | likely benign | 15 | 48600124 | 48600124 | Human | 1 | name |
| 11543699 | CV258826 | single nucleotide variant | NM_000138.5(FBN1):c.7820-3C>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002310837]|not provided [RCV000729036] | uncertain significance | 15 | 48415770 | 48415770 | Human | 1 | name |
| 11549866 | CV258858 | single nucleotide variant | NM_000138.5(FBN1):c.5789-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002310835] | pathogenic | 15 | 48445506 | 48445506 | Human | 1 | name |
| 11546384 | CV258871 | single nucleotide variant | NM_000138.5(FBN1):c.4337-3A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001179385]|Marfan syndrome [RCV001859451]|Marfan syndrome [RCV003995692] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48470759 | 48470759 | Human | 3 | name |
| 11547282 | CV258884 | single nucleotide variant | NM_000138.5(FBN1):c.3209-1G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002310873]|Marfan syndrome [RCV003765555] | pathogenic|likely pathogenic | 15 | 48488242 | 48488242 | Human | 3 | name |
| 11551725 | CV258889 | single nucleotide variant | NM_000138.5(FBN1):c.3082+1G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002310939] | pathogenic | 15 | 48489850 | 48489850 | Human | 1 | name |
| 11550116 | CV258896 | single nucleotide variant | NM_000138.5(FBN1):c.2728+2T>C | Cardiovascular phenotype [RCV000251310] | likely pathogenic | 15 | 48494202 | 48494202 | Human | | name |
| 11633912 | CV264731 | single nucleotide variant | NM_000138.5(FBN1):c.2114-2A>C | Marfan syndrome [RCV001050524]|not provided [RCV000380850] | pathogenic|likely pathogenic | 15 | 48499040 | 48499040 | Human | 1 | name |
| 11633163 | CV264840 | single nucleotide variant | NM_000138.5(FBN1):c.6380-2A>C | Marfan syndrome [RCV002245989]|not provided [RCV000315289] | pathogenic|likely pathogenic | 15 | 48437079 | 48437079 | Human | 1 | name |
| 11578103 | CV264850 | single nucleotide variant | NM_000138.5(FBN1):c.5917+1G>A | Marfan syndrome [RCV001855063]|not provided [RCV000274273] | pathogenic|likely pathogenic | 15 | 48445375 | 48445375 | Human | 1 | name |
| 329953088 | CV2669798 | single nucleotide variant | NM_000138.5(FBN1):c.5066-2A>G | not provided [RCV003234422] | likely pathogenic | 15 | 48463242 | 48463242 | Human | | name |
| 11638548 | CV268311 | single nucleotide variant | NM_000138.5(FBN1):c.2114-3C>G | not provided [RCV000305813] | uncertain significance | 15 | 48499041 | 48499041 | Human | | name |
| 401915130 | CV2830971 | single nucleotide variant | NM_000138.5(FBN1):c.4816+3A>G | not provided [RCV003442711] | uncertain significance | 15 | 48465787 | 48465787 | Human | | name |
| 401940504 | CV2839363 | single nucleotide variant | NM_000138.5(FBN1):c.2294-2A>G | Marfan syndrome [RCV003448936] | likely pathogenic | 15 | 48496227 | 48496227 | Human | 1 | name |
| 401961307 | CV2844692 | single nucleotide variant | NM_000138.5(FBN1):c.4211-2A>C | not provided [RCV003480490] | likely pathogenic | 15 | 48472678 | 48472678 | Human | | name |
| 402491397 | CV2934058 | single nucleotide variant | NM_000138.5(FBN1):c.6739+3G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003528008]|Marfan syndrome [RCV003779304] | uncertain significance | 15 | 48432863 | 48432863 | Human | 3 | name |
| 405018871 | CV2934078 | single nucleotide variant | NM_000138.5(FBN1):c.4210+4T>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003528028] | uncertain significance | 15 | 48474251 | 48474251 | Human | 1 | name |
| 405018928 | CV2934085 | single nucleotide variant | NM_000138.5(FBN1):c.3965-5T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV003528035] | likely benign | 15 | 48474655 | 48474655 | Human | 1 | name |
| 405019000 | CV2934095 | single nucleotide variant | NM_000138.5(FBN1):c.3208+3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003528045] | uncertain significance | 15 | 48488365 | 48488365 | Human | 1 | name |
| 405019117 | CV2934113 | single nucleotide variant | NM_000138.5(FBN1):c.2168-7G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV003528062] | uncertain significance | 15 | 48497398 | 48497398 | Human | 1 | name |
| 405023901 | CV2936119 | single nucleotide variant | NM_000138.5(FBN1):c.8226+6T>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003528803] | uncertain significance | 15 | 48412563 | 48412563 | Human | 1 | name |
| 405238936 | CV3081462 | single nucleotide variant | NM_000138.5(FBN1):c.988+11T>G | Marfan syndrome [RCV005220764]|not provided [RCV003736521] | likely benign | 15 | 48526119 | 48526119 | Human | 1 | name |
| 402478126 | CV3081608 | single nucleotide variant | NM_000138.5(FBN1):c.5296+2T>G | Marfan syndrome [RCV003779381]|not provided [RCV003740583] | pathogenic|likely pathogenic | 15 | 48460244 | 48460244 | Human | 1 | name |
| 405024607 | CV3082042 | single nucleotide variant | NM_000138.5(FBN1):c.2114-5T>G | Marfan syndrome [RCV003785648] | pathogenic|uncertain significance | 15 | 48499043 | 48499043 | Human | 1 | name |
| 405027636 | CV3082421 | single nucleotide variant | NM_000138.5(FBN1):c.988+16A>G | Marfan syndrome [RCV003785872] | likely benign | 15 | 48526114 | 48526114 | Human | 1 | name |
| 405013557 | CV3083786 | single nucleotide variant | NM_000138.5(FBN1):c.4748-4A>G | Marfan syndrome [RCV003784579] | uncertain significance | 15 | 48465862 | 48465862 | Human | 1 | name |
| 405048915 | CV3084487 | single nucleotide variant | NM_000138.5(FBN1):c.5225-2A>G | Marfan syndrome [RCV003797894]|Tall stature [RCV005241258] | likely pathogenic | 15 | 48460319 | 48460319 | Human | 4 | name |
| 404996958 | CV3085537 | single nucleotide variant | NM_000138.5(FBN1):c.5545+3A>G | Marfan syndrome [RCV003783068] | uncertain significance | 15 | 48452559 | 48452559 | Human | 1 | name |
| 405002542 | CV3086412 | single nucleotide variant | NM_000138.5(FBN1):c.7331-2A>G | Marfan syndrome [RCV003783626] | pathogenic | 15 | 48425493 | 48425493 | Human | 1 | name |
| 405003635 | CV3086413 | single nucleotide variant | NM_000138.5(FBN1):c.7330+1G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV005335911]|Marfan syndrome [RCV003783627] | pathogenic|likely pathogenic | 15 | 48425738 | 48425738 | Human | 3 | name |
| 405002594 | CV3086417 | single nucleotide variant | NM_000138.5(FBN1):c.6617-1G>T | Marfan syndrome [RCV003783631] | pathogenic | 15 | 48432989 | 48432989 | Human | 1 | name |
| 405002614 | CV3086419 | single nucleotide variant | NM_000138.5(FBN1):c.6164-1G>T | Marfan syndrome [RCV003783633] | pathogenic | 15 | 48437918 | 48437918 | Human | 1 | name |
| 405002785 | CV3086435 | single nucleotide variant | NM_000138.5(FBN1):c.4460-1G>T | Marfan syndrome [RCV003783649] | pathogenic | 15 | 48468535 | 48468535 | Human | 1 | name |
| 405002832 | CV3086439 | single nucleotide variant | NM_000138.5(FBN1):c.3712+9G>A | Marfan syndrome [RCV003783653] | likely benign | 15 | 48485365 | 48485365 | Human | 1 | name |
| 405002856 | CV3086441 | single nucleotide variant | NM_000138.5(FBN1):c.3464-6C>A | Marfan syndrome [RCV003783655] | pathogenic | 15 | 48487206 | 48487206 | Human | 1 | name |
| 405002901 | CV3086445 | single nucleotide variant | NM_000138.5(FBN1):c.2677+1G>A | FBN1-related disorder [RCV004723467]|Marfan syndrome [RCV003783659] | pathogenic|likely pathogenic | 15 | 48495122 | 48495122 | Human | 3 | name |
| 402521767 | CV3086555 | single nucleotide variant | NM_000138.5(FBN1):c.737-19G>C | Marfan syndrome [RCV003781171] | likely benign | 15 | 48534224 | 48534224 | Human | 1 | name |
| 402524850 | CV3086789 | single nucleotide variant | NM_000138.5(FBN1):c.5788+5G>C | Marfan syndrome [RCV003781407] | uncertain significance | 15 | 48446701 | 48446701 | Human | 1 | name |
| 405022435 | CV3088184 | single nucleotide variant | NM_000138.5(FBN1):c.7204+3A>T | Marfan syndrome [RCV003795744] | pathogenic | 15 | 48427564 | 48427564 | Human | 1 | name |
| 404997744 | CV3088636 | single nucleotide variant | NM_000138.5(FBN1):c.5672-5A>G | Marfan syndrome [RCV003793414] | likely benign | 15 | 48446827 | 48446827 | Human | 1 | name |
| 402510967 | CV3089266 | single nucleotide variant | NM_000138.5(FBN1):c.5546-8A>T | Marfan syndrome [RCV003780298] | likely benign | 15 | 48448901 | 48448901 | Human | 1 | name |
| 402499928 | CV3089544 | single nucleotide variant | NM_000138.5(FBN1):c.443-13C>T | Marfan syndrome [RCV003788467] | likely benign | 15 | 48596391 | 48596391 | Human | 1 | name |
| 402517891 | CV3089964 | single nucleotide variant | NM_000138.5(FBN1):c.6871+8G>T | Marfan syndrome [RCV003780842] | likely benign | 15 | 48430663 | 48430663 | Human | 1 | name |
| 402505647 | CV3090289 | single nucleotide variant | NM_000138.5(FBN1):c.6997+7A>G | Marfan syndrome [RCV003789057] | likely benign | 15 | 48428339 | 48428339 | Human | 1 | name |
| 402490803 | CV3091009 | single nucleotide variant | NM_000138.5(FBN1):c.6497-4G>A | Marfan syndrome [RCV003787512] | likely benign | 15 | 48434717 | 48434717 | Human | 1 | name |
| 402484484 | CV3093678 | single nucleotide variant | NM_000138.5(FBN1):c.443-17C>G | Marfan syndrome [RCV003786877] | likely benign | 15 | 48596395 | 48596395 | Human | 1 | name |
| 405027339 | CV3094791 | single nucleotide variant | NM_000138.5(FBN1):c.2294-3C>A | Marfan syndrome [RCV003796153] | uncertain significance | 15 | 48496228 | 48496228 | Human | 1 | name |
| 405055178 | CV3095066 | single nucleotide variant | NM_000138.5(FBN1):c.6871+9A>G | Marfan syndrome [RCV003798380] | likely benign | 15 | 48430662 | 48430662 | Human | 1 | name |
| 405032995 | CV3095398 | single nucleotide variant | NM_000138.5(FBN1):c.2114-7A>G | Marfan syndrome [RCV003796604]|Marfan syndrome [RCV004006040] | likely benign | 15 | 48499045 | 48499045 | Human | 1 | name |
| 405007523 | CV3096186 | single nucleotide variant | NM_000138.5(FBN1):c.5296+7C>T | Marfan syndrome [RCV003794336] | likely benign | 15 | 48460239 | 48460239 | Human | 1 | name |
| 404986598 | CV3096884 | single nucleotide variant | NM_000138.5(FBN1):c.6617-2A>G | Marfan syndrome [RCV003792273] | pathogenic|likely pathogenic | 15 | 48432990 | 48432990 | Human | 1 | name |
| 405019001 | CV3100915 | single nucleotide variant | NM_000138.5(FBN1):c.737-17C>G | Marfan syndrome [RCV003805663] | likely benign | 15 | 48534222 | 48534222 | Human | 1 | name |
| 405175297 | CV3101049 | single nucleotide variant | NM_000138.5(FBN1):c.5296+3G>C | Marfan syndrome [RCV003803436] | uncertain significance | 15 | 48460243 | 48460243 | Human | 1 | name |
| 405022089 | CV3101385 | single nucleotide variant | NM_000138.5(FBN1):c.1589-1G>C | Marfan syndrome [RCV003805964] | pathogenic | 15 | 48510170 | 48510170 | Human | 1 | name |
| 405039881 | CV3103321 | single nucleotide variant | NM_000138.5(FBN1):c.4211-2A>G | Marfan syndrome [RCV003797198] | likely pathogenic | 15 | 48472678 | 48472678 | Human | 1 | name |
| 405068079 | CV3103511 | single nucleotide variant | NM_000138.5(FBN1):c.7331-1G>A | Marfan syndrome [RCV003799341] | pathogenic | 15 | 48425492 | 48425492 | Human | 1 | name |
| 405169164 | CV3104181 | single nucleotide variant | NM_000138.5(FBN1):c.3713-2A>C | Marfan syndrome [RCV003802858] | pathogenic | 15 | 48483945 | 48483945 | Human | 1 | name |
| 405015422 | CV3104449 | single nucleotide variant | NM_000138.5(FBN1):c.3964+2T>C | Marfan syndrome [RCV003805318] | pathogenic | 15 | 48481653 | 48481653 | Human | 1 | name |
| 405015892 | CV3104471 | single nucleotide variant | NM_000138.5(FBN1):c.3082+2T>C | Marfan syndrome [RCV003805340] | pathogenic | 15 | 48489849 | 48489849 | Human | 1 | name |
| 405037076 | CV3106262 | single nucleotide variant | NM_000138.5(FBN1):c.7571-5C>G | Marfan syndrome [RCV003796953] | likely benign | 15 | 48421691 | 48421691 | Human | 1 | name |
| 405015116 | CV3106865 | duplication | NM_000138.5(FBN1):c.8227-5dup | Marfan syndrome [RCV003795035] | likely benign | 15 | 48411383 | 48411384 | Human | 1 | name |
| 405081541 | CV3107409 | single nucleotide variant | NM_000138.5(FBN1):c.6998-1G>A | Marfan syndrome [RCV003800279] | pathogenic | 15 | 48427774 | 48427774 | Human | 1 | name |
| 405081709 | CV3107422 | single nucleotide variant | NM_000138.5(FBN1):c.165-14T>A | Marfan syndrome [RCV003800292] | uncertain significance | 15 | 48613106 | 48613106 | Human | 1 | name |
| 405064702 | CV3108896 | single nucleotide variant | NM_000138.5(FBN1):c.4088-2A>G | Marfan syndrome [RCV003809306] | likely pathogenic | 15 | 48474379 | 48474379 | Human | 1 | name |
| 405163055 | CV3110015 | single nucleotide variant | NM_000138.5(FBN1):c.5423-1G>C | Marfan syndrome [RCV003802374]|Marfan syndrome [RCV004805087] | pathogenic|likely pathogenic | 15 | 48452685 | 48452685 | Human | 1 | name |
| 405163523 | CV3110049 | single nucleotide variant | NM_000138.5(FBN1):c.7819+5G>T | Marfan syndrome [RCV003802408] | uncertain significance | 15 | 48420682 | 48420682 | Human | 1 | name |
| 405153606 | CV3110234 | single nucleotide variant | NM_000138.5(FBN1):c.2854+9T>G | Marfan syndrome [RCV003817755] | likely benign | 15 | 48492452 | 48492452 | Human | 1 | name |
| 405154083 | CV3110270 | single nucleotide variant | NM_000138.5(FBN1):c.7700-4T>G | Marfan syndrome [RCV003817791] | likely benign | 15 | 48420810 | 48420810 | Human | 1 | name |
| 405158172 | CV3110419 | single nucleotide variant | NM_000138.5(FBN1):c.5671+2T>C | Marfan syndrome [RCV003817940] | pathogenic | 15 | 48448766 | 48448766 | Human | 1 | name |
| 405110744 | CV3110670 | single nucleotide variant | NM_000138.5(FBN1):c.4459+3A>C | Marfan syndrome [RCV003813573] | uncertain significance | 15 | 48470631 | 48470631 | Human | 1 | name |
| 405129105 | CV3110863 | single nucleotide variant | NM_000138.5(FBN1):c.8052-1G>A | Marfan syndrome [RCV003815742] | pathogenic | 15 | 48412744 | 48412744 | Human | 1 | name |
| 405069385 | CV3111115 | single nucleotide variant | NM_000138.5(FBN1):c.6616+4C>T | Marfan syndrome [RCV003809619] | uncertain significance | 15 | 48434590 | 48434590 | Human | 1 | name |
| 405124738 | CV3111788 | single nucleotide variant | NM_000138.5(FBN1):c.7453+2T>G | Marfan syndrome [RCV003815261] | likely pathogenic | 15 | 48425367 | 48425367 | Human | 1 | name |
| 405125815 | CV3111878 | single nucleotide variant | NM_000138.5(FBN1):c.2678-1G>T | Marfan syndrome [RCV003815351] | pathogenic | 15 | 48494255 | 48494255 | Human | 1 | name |
| 405109528 | CV3112520 | single nucleotide variant | NM_000138.5(FBN1):c.6497-9T>A | Marfan syndrome [RCV003813363] | likely benign | 15 | 48434722 | 48434722 | Human | 1 | name |
| 405105393 | CV3113221 | single nucleotide variant | NM_000138.5(FBN1):c.4942+8G>C | Marfan syndrome [RCV003812512] | likely benign | 15 | 48465560 | 48465560 | Human | 1 | name |
| 405082945 | CV3113553 | single nucleotide variant | NM_000138.5(FBN1):c.4210+3A>T | Marfan syndrome [RCV003810570] | uncertain significance | 15 | 48474252 | 48474252 | Human | 1 | name |
| 405011313 | CV3113907 | single nucleotide variant | NM_000138.5(FBN1):c.4942+9T>G | Marfan syndrome [RCV003804929] | likely benign | 15 | 48465559 | 48465559 | Human | 1 | name |
| 405012173 | CV3113933 | single nucleotide variant | NM_000138.5(FBN1):c.989-20A>G | Marfan syndrome [RCV003804955] | likely benign | 15 | 48520837 | 48520837 | Human | 1 | name |
| 405012342 | CV3113981 | single nucleotide variant | NM_000138.5(FBN1):c.988+13A>G | Marfan syndrome [RCV003805003]|not specified [RCV004526278] | likely benign | 15 | 48526117 | 48526117 | Human | 1 | name |
| 8565626 | CV31475 | single nucleotide variant | NM_000138.5(FBN1):c.6739+1G>C | Marfan syndrome [RCV000017898] | pathogenic|likely pathogenic | 15 | 48432865 | 48432865 | Human | 1 | name |
| 8565631 | CV31480 | single nucleotide variant | NM_000138.5(FBN1):c.3965-2A>T | Neonatal Marfan syndrome [RCV000017903] | pathogenic | 15 | 48474652 | 48474652 | Human | 1 | name |
| 8565632 | CV31481 | single nucleotide variant | NM_000138.5(FBN1):c.4087+1G>A | Marfan syndrome [RCV000659538]|Neonatal Marfan syndrome [RCV000017904] | pathogenic | 15 | 48474527 | 48474527 | Human | 1 | name |
| 8565644 | CV31495 | single nucleotide variant | NM_000138.5(FBN1):c.5788+1G>A | Marfan syndrome [RCV000017919] | pathogenic | 15 | 48446705 | 48446705 | Human | 1 | name |
| 405277201 | CV3195320 | deletion | NM_000138.5(FBN1):c.3082+4del | FBN1-related disorder [RCV004536970] | likely benign | 15 | 48489847 | 48489847 | Human | | name |
| 405256177 | CV3208679 | single nucleotide variant | NM_000138.5(FBN1):c.1714+8T>C | FBN1-related disorder [RCV004532254] | likely benign | 15 | 48510036 | 48510036 | Human | | name |
| 11599760 | CV322773 | single nucleotide variant | NM_000138.5(FBN1):c.5788+4C>A | Acromicric dysplasia [RCV000396460]|Ectopia lentis [RCV000268444]|Familial thoracic aortic aneurysm and aortic dissection [RCV000396467]|Geleophysic dysplasia [RCV000347712]|MASS syndrome [RCV000349101]|Marfan syndrome [RCV000309387]|Marfan syndrome [RCV003765835]|Stiff skin syndrome [RCV000360488]| Weill-Marchesani syndrome [RCV000308093]|not provided [RCV001093334] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 48446702 | 48446702 | Human | 10 | name |
| 405653908 | CV3228000 | single nucleotide variant | NM_000138.5(FBN1):c.347-73A>G | Marfan syndrome [RCV003994742] | benign | 15 | 48600307 | 48600307 | Human | 1 | name |
| 405737273 | CV3228629 | single nucleotide variant | NM_000138.5(FBN1):c.2539+3A>G | Marfan syndrome [RCV004014548] | uncertain significance | 15 | 48495466 | 48495466 | Human | 1 | name |
| 405738264 | CV3228751 | single nucleotide variant | NM_000138.5(FBN1):c.1961-4T>C | Marfan syndrome [RCV004014672]|Marfan syndrome [RCV005209659] | likely benign | 15 | 48503943 | 48503943 | Human | 1 | name |
| 405730784 | CV3229066 | single nucleotide variant | NM_000138.5(FBN1):c.6739+2T>C | Marfan syndrome [RCV004013816] | likely pathogenic | 15 | 48432864 | 48432864 | Human | 1 | name |
| 405741003 | CV3229300 | single nucleotide variant | NM_000138.5(FBN1):c.8227-4C>T | Marfan syndrome [RCV004015044] | likely benign | 15 | 48411383 | 48411383 | Human | 1 | name |
| 405733108 | CV3229504 | single nucleotide variant | NM_000138.5(FBN1):c.5671+6T>A | Marfan syndrome [RCV004014071] | uncertain significance | 15 | 48448762 | 48448762 | Human | 1 | name |
| 405733194 | CV3229514 | single nucleotide variant | NM_000138.5(FBN1):c.2539+5T>C | Marfan syndrome [RCV004014081] | uncertain significance | 15 | 48495464 | 48495464 | Human | 1 | name |
| 405733507 | CV3229546 | deletion | NM_000138.5(FBN1):c.5297-8del | Marfan syndrome [RCV004014113] | uncertain significance | 15 | 48456770 | 48456770 | Human | 1 | name |
| 405734473 | CV3229650 | single nucleotide variant | NM_000138.5(FBN1):c.1838-4A>G | Marfan syndrome [RCV004014217] | likely benign | 15 | 48505151 | 48505151 | Human | 1 | name |
| 405693964 | CV3229944 | single nucleotide variant | NM_000138.5(FBN1):c.4211-3T>C | Marfan syndrome [RCV004007861] | likely benign | 15 | 48472679 | 48472679 | Human | 1 | name |
| 405726240 | CV3230600 | single nucleotide variant | NM_000138.5(FBN1):c.3590-7C>A | Marfan syndrome [RCV004013353] | uncertain significance | 15 | 48485503 | 48485503 | Human | 1 | name |
| 405711708 | CV3231744 | single nucleotide variant | NM_000138.5(FBN1):c.5224+5G>T | Marfan syndrome [RCV004011774]|Marfan syndrome [RCV005216169] | uncertain significance | 15 | 48463077 | 48463077 | Human | 1 | name |
| 405723041 | CV3232000 | single nucleotide variant | NM_000138.5(FBN1):c.3464-8C>T | Marfan syndrome [RCV004013022] | likely benign | 15 | 48487208 | 48487208 | Human | 1 | name |
| 405696888 | CV3233292 | single nucleotide variant | NM_000138.5(FBN1):c.2540-9C>T | Marfan syndrome [RCV004008260] | likely benign | 15 | 48495269 | 48495269 | Human | 1 | name |
| 405702655 | CV3233460 | single nucleotide variant | NM_000138.5(FBN1):c.2294-5T>C | Marfan syndrome [RCV004009916] | likely benign | 15 | 48496230 | 48496230 | Human | 1 | name |
| 405704486 | CV3233640 | single nucleotide variant | NM_000138.5(FBN1):c.3965-5T>A | Marfan syndrome [RCV004010097] | uncertain significance | 15 | 48474655 | 48474655 | Human | 1 | name |
| 405744728 | CV3234630 | single nucleotide variant | NM_000138.5(FBN1):c.5918-6T>C | Marfan syndrome [RCV004015504] | likely benign | 15 | 48444666 | 48444666 | Human | 1 | name |
| 405745106 | CV3234670 | single nucleotide variant | NM_000138.5(FBN1):c.4583-4A>G | Marfan syndrome [RCV004015544] | uncertain significance | 15 | 48468106 | 48468106 | Human | 1 | name |
| 405746463 | CV3234795 | single nucleotide variant | NM_000138.5(FBN1):c.3082+5A>G | Marfan syndrome [RCV004015670] | uncertain significance | 15 | 48489846 | 48489846 | Human | 1 | name |
| 11612674 | CV332272 | single nucleotide variant | NM_000138.5(FBN1):c.1837+9T>C | Acromicric dysplasia [RCV000329612]|Ectopia lentis 1, isolated, autosomal dominant [RCV000369312]|FBN1-related disorder [RCV004537782]|Familial thoracic aortic aneurysm and aortic dissection [RCV000372486]|Geleophysic dysplasia [RCV000356505]|Marfan syndrome [RC V000314567]|Marfan syndrome [RCV000873938]|Stiff skin syndrome [RCV000317788]|Weill-Marchesani syndrome [RCV000261680]|not specified [RCV000439166] | benign|likely benign|uncertain significance | 15 | 48508573 | 48508573 | Human | 8 | name |
| 405673929 | CV3380101 | single nucleotide variant | NM_000138.5(FBN1):c.3464-8C>G | Marfan syndrome [RCV004515768] | likely benign | 15 | 48487208 | 48487208 | Human | 1 | name |
| 405698537 | CV3385256 | single nucleotide variant | NM_000138.5(FBN1):c.3209-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV004520563] | likely pathogenic | 15 | 48488242 | 48488242 | Human | 1 | name |
| 11613116 | CV339296 | single nucleotide variant | NM_000138.5(FBN1):c.1468+4C>A | Acromicric dysplasia [RCV000320302]|Ectopia lentis [RCV000359983]|Familial thoracic aortic aneurysm and aortic dissection [RCV000271083]|Geleophysic dysplasia [RCV000265370]|MASS syndrome [RCV000384163]|Marfan syndrome [RCV000296034]|Stiff skin syndrome [RCV000381131]|Weill-Marchesani syndrome [RCV0 00326194] | uncertain significance | 15 | 48515383 | 48515383 | Human | 10 | name |
| 11615821 | CV340726 | single nucleotide variant | NM_000138.5(FBN1):c.8227-3C>T | Acromicric dysplasia [RCV000382367]|Ectopia lentis [RCV000311376]|FBN1-related disorder [RCV004537780]|Familial thoracic aortic aneurysm and aortic dissection [RCV000349902]|Geleophysic dysplasia [RCV000400407]|MASS syndrome [RCV000346461]|Marfan syndrome [RCV00 0289209]|Marfan syndrome [RCV001850674]|Stiff skin syndrome [RCV000395298]|Weill-Marchesani syndrome [RCV000341750]|not provided [RCV001697752]|not specified [RCV005407045] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48411382 | 48411382 | Human | 10 | name |
| 407457602 | CV3416155 | single nucleotide variant | NM_000138.5(FBN1):c.5066-5T>C | not provided [RCV004599033] | uncertain significance | 15 | 48463245 | 48463245 | Human | | name |
| 407500781 | CV3495542 | single nucleotide variant | NM_000138.5(FBN1):c.6313+1G>T | not provided [RCV004697382] | likely pathogenic | 15 | 48437767 | 48437767 | Human | | name |
| 407459796 | CV3496923 | single nucleotide variant | NM_000138.5(FBN1):c.5789-1G>C | Marfan syndrome [RCV004698738] | pathogenic | 15 | 48445505 | 48445505 | Human | 1 | name |
| 407573797 | CV3498146 | deletion | NM_000138.5(FBN1):c.6163+1del | not provided [RCV004702135] | likely pathogenic | 15 | 48441720 | 48441720 | Human | | name |
| 407574103 | CV3498452 | deletion | NM_000138.5(FBN1):c.8227-3del | Marfan syndrome [RCV005221000]|not specified [RCV004702927] | likely benign|uncertain significance | 15 | 48411382 | 48411382 | Human | 1 | name |
| 407574521 | CV3499532 | single nucleotide variant | NM_000138.5(FBN1):c.5917+2T>C | not provided [RCV004719527] | likely pathogenic | 15 | 48445374 | 48445374 | Human | | name |
| 596921367 | CV3534989 | single nucleotide variant | NM_000138.5(FBN1):c.4336+3A>C | not provided [RCV004784547] | uncertain significance | 15 | 48472548 | 48472548 | Human | | name |
| 596927467 | CV3536716 | single nucleotide variant | NM_000138.5(FBN1):c.3713-2A>G | Marfan syndrome [RCV004790126] | likely pathogenic | 15 | 48483945 | 48483945 | Human | 1 | name |
| 596925371 | CV3542041 | deletion | NM_000138.5(FBN1):c.8226+5del | Ectopia lentis 1, isolated, autosomal dominant [RCV004795756] | uncertain significance | 15 | 48412564 | 48412564 | Human | 1 | name |
| 596942787 | CV3544206 | single nucleotide variant | NM_000138.5(FBN1):c.737-20T>G | Marfan syndrome [RCV005218339]|not specified [RCV004800198] | likely benign | 15 | 48534225 | 48534225 | Human | 1 | name |
| 596943008 | CV3545894 | single nucleotide variant | NM_000138.5(FBN1):c.7699+4G>T | Marfan syndrome [RCV004803744] | uncertain significance | 15 | 48421554 | 48421554 | Human | 1 | name |
| 596942991 | CV3545898 | single nucleotide variant | NM_000138.5(FBN1):c.7331-6T>C | Marfan syndrome [RCV004803748] | likely benign | 15 | 48425497 | 48425497 | Human | 1 | name |
| 596942495 | CV3545917 | single nucleotide variant | NM_000138.5(FBN1):c.5788+3G>A | Marfan syndrome [RCV004803767] | uncertain significance | 15 | 48446703 | 48446703 | Human | 1 | name |
| 596942503 | CV3545919 | single nucleotide variant | NM_000138.5(FBN1):c.5671+5G>A | Marfan syndrome [RCV004803769] | uncertain significance | 15 | 48448763 | 48448763 | Human | 1 | name |
| 596942590 | CV3545938 | single nucleotide variant | NM_000138.5(FBN1):c.4337-4C>T | Marfan syndrome [RCV004803789] | likely benign | 15 | 48470760 | 48470760 | Human | 1 | name |
| 596942742 | CV3545971 | deletion | NM_000138.5(FBN1):c.2728+6del | Marfan syndrome [RCV004803823] | uncertain significance | 15 | 48494198 | 48494198 | Human | 1 | name |
| 596942777 | CV3545978 | deletion | NM_000138.5(FBN1):c.2168-1del | Marfan syndrome [RCV004803830] | likely pathogenic | 15 | 48497392 | 48497392 | Human | 1 | name |
| 596942828 | CV3545988 | single nucleotide variant | NM_000138.5(FBN1):c.1469-8C>T | Marfan syndrome [RCV004803840] | likely benign | 15 | 48513676 | 48513676 | Human | 1 | name |
| 596942843 | CV3545991 | single nucleotide variant | NM_000138.5(FBN1):c.1328-1G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV005402205]|Marfan syndrome [RCV004803843] | likely pathogenic | 15 | 48515528 | 48515528 | Human | 3 | name |
| 596942862 | CV3545995 | single nucleotide variant | NM_000138.5(FBN1):c.1148-8T>G | Marfan syndrome [RCV004803847] | likely benign | 15 | 48516370 | 48516370 | Human | 1 | name |
| 596940954 | CV3546005 | single nucleotide variant | NM_000138.5(FBN1):c.248-12G>A | Marfan syndrome [RCV004806632] | likely benign | 15 | 48610838 | 48610838 | Human | 1 | name |
| 596940959 | CV3546007 | single nucleotide variant | NM_000138.5(FBN1):c.165-11T>G | Marfan syndrome [RCV004806634] | likely benign | 15 | 48613103 | 48613103 | Human | 1 | name |
| 12740772 | CV360166 | single nucleotide variant | NM_000138.5(FBN1):c.7204+3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002374618]|Marfan syndrome [RCV000462540]|not provided [RCV000413052] | pathogenic|uncertain significance | 15 | 48427564 | 48427564 | Human | 3 | name |
| 12742709 | CV360174 | single nucleotide variant | NM_000138.5(FBN1):c.6164-2A>G | Marfan syndrome [RCV001379798]|not provided [RCV000414307] | pathogenic|likely pathogenic | 15 | 48437919 | 48437919 | Human | 1 | name |
| 597630951 | CV3669090 | single nucleotide variant | NM_000138.5(FBN1):c.4211-4G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV004822903] | likely benign | 15 | 48472680 | 48472680 | Human | 1 | name |
| 597631565 | CV3669131 | duplication | NM_000138.5(FBN1):c.6740-5dup | Familial thoracic aortic aneurysm and aortic dissection [RCV004823433] | likely benign | 15 | 48430806 | 48430807 | Human | 1 | name |
| 597658154 | CV3731766 | single nucleotide variant | NM_000138.5(FBN1):c.2113+3A>G | Marfan syndrome [RCV005001943]|Marfan syndrome [RCV005223158] | uncertain significance | 15 | 48503784 | 48503784 | Human | 1 | name |
| 597733436 | CV3732846 | single nucleotide variant | NM_000138.5(FBN1):c.5225-3C>G | Marfan syndrome [RCV005051212] | likely pathogenic | 15 | 48460320 | 48460320 | Human | 1 | name |
| 12848989 | CV373484 | single nucleotide variant | NM_000138.5(FBN1):c.6379+2T>C | Marfan syndrome [RCV003766214]|not provided [RCV000422144] | pathogenic|likely pathogenic | 15 | 48437320 | 48437320 | Human | 1 | name |
| 12833813 | CV373487 | single nucleotide variant | NM_000138.5(FBN1):c.6038-8T>A | FBN1-related disorder [RCV004737486]|Familial thoracic aortic aneurysm and aortic dissection [RCV000771983]|Marfan syndrome [RCV000632068]|not provided [RCV001698264]|not specified [RCV000419224] | benign|likely benign | 15 | 48441854 | 48441854 | Human | 3 | name |
| 12849134 | CV373508 | single nucleotide variant | NM_000138.5(FBN1):c.4211-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002328988]|not provided [RCV000424708] | pathogenic|likely pathogenic | 15 | 48472677 | 48472677 | Human | 1 | name |
| 12837970 | CV373539 | single nucleotide variant | NM_000138.5(FBN1):c.2678-3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003485581]|Marfan syndrome [RCV000659518]|Marfan syndrome [RCV001229781]|not specified [RCV000426105] | likely benign|uncertain significance | 15 | 48494257 | 48494257 | Human | 3 | name |
| 12839789 | CV373550 | single nucleotide variant | NM_000138.5(FBN1):c.2678-3C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002313059]|not provided [RCV001703640] | likely pathogenic|likely benign|uncertain significance | 15 | 48494257 | 48494257 | Human | 1 | name |
| 597833674 | CV3735666 | single nucleotide variant | NM_000138.5(FBN1):c.4460-2A>T | not provided [RCV005063528] | pathogenic | 15 | 48468536 | 48468536 | Human | | name |
| 12845300 | CV374125 | single nucleotide variant | NM_000138.5(FBN1):c.8052-3C>G | not provided [RCV000439560] | uncertain significance | 15 | 48412746 | 48412746 | Human | | name |
| 12836339 | CV374196 | single nucleotide variant | NM_000138.5(FBN1):c.2168-6G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003528170]|Marfan syndrome [RCV001472337]|Marfan syndrome [RCV004000571]|not specified [RCV000423220] | benign|likely benign | 15 | 48497397 | 48497397 | Human | 3 | name |
| 12850230 | CV374202 | single nucleotide variant | NM_000138.5(FBN1):c.2113+2T>G | Marfan syndrome [RCV000559967]|not provided [RCV000443476] | pathogenic|likely pathogenic | 15 | 48503785 | 48503785 | Human | 1 | name |
| 12835993 | CV374587 | single nucleotide variant | NM_000138.5(FBN1):c.2729-8C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001191143]|Marfan syndrome [RCV002061390]|not specified [RCV000422638] | likely benign | 15 | 48492594 | 48492594 | Human | 3 | name |
| 12833379 | CV374605 | single nucleotide variant | NM_000138.5(FBN1):c.1715-9T>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003528168]|Marfan syndrome [RCV002524868]|Marfan syndrome [RCV003996038]|not specified [RCV000418375] | likely benign|uncertain significance | 15 | 48508713 | 48508713 | Human | 3 | name |
| 12834618 | CV374619 | single nucleotide variant | NM_000138.5(FBN1):c.988+20G>A | Marfan syndrome [RCV002061389]|not provided [RCV001810887]|not specified [RCV000420257] | likely benign | 15 | 48526110 | 48526110 | Human | 1 | name |
| 12845685 | CV376507 | single nucleotide variant | NM_000138.5(FBN1):c.1838-6C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001187375]|Marfan syndrome [RCV000463984]|Marfan syndrome [RCV003995957]|not specified [RCV000440271] | benign|likely benign | 15 | 48505153 | 48505153 | Human | 3 | name |
| 597857540 | CV3864683 | single nucleotide variant | NM_000138.5(FBN1):c.539-11T>C | Marfan syndrome [RCV005213739] | likely benign | 15 | 48537819 | 48537819 | Human | 1 | name |
| 597858390 | CV3864788 | duplication | NM_000138.5(FBN1):c.6163+6dup | Marfan syndrome [RCV005213844] | likely benign | 15 | 48441714 | 48441715 | Human | 1 | name |
| 597842078 | CV3864986 | single nucleotide variant | NM_000138.5(FBN1):c.863-16T>A | Marfan syndrome [RCV005211434] | likely benign | 15 | 48526271 | 48526271 | Human | 1 | name |
| 597896244 | CV3865633 | single nucleotide variant | NM_000138.5(FBN1):c.248-18C>G | Marfan syndrome [RCV005219611] | likely benign | 15 | 48610844 | 48610844 | Human | 1 | name |
| 597882176 | CV3865826 | single nucleotide variant | NM_000138.5(FBN1):c.1838-2A>C | Marfan syndrome [RCV005217491] | pathogenic | 15 | 48505149 | 48505149 | Human | 1 | name |
| 597883561 | CV3866018 | single nucleotide variant | NM_000138.5(FBN1):c.6163+1G>T | Marfan syndrome [RCV005217683] | likely pathogenic | 15 | 48441720 | 48441720 | Human | 1 | name |
| 597897195 | CV3866136 | single nucleotide variant | NM_000138.5(FBN1):c.3964+5G>A | Marfan syndrome [RCV005219753] | uncertain significance | 15 | 48481650 | 48481650 | Human | 1 | name |
| 597909331 | CV3867172 | single nucleotide variant | NM_000138.5(FBN1):c.7699+1G>T | Marfan syndrome [RCV005221637] | pathogenic | 15 | 48421557 | 48421557 | Human | 1 | name |
| 597909637 | CV3867214 | single nucleotide variant | NM_000138.5(FBN1):c.5297-8G>T | Marfan syndrome [RCV005221679] | likely benign | 15 | 48456770 | 48456770 | Human | 1 | name |
| 597922912 | CV3867340 | single nucleotide variant | NM_000138.5(FBN1):c.6871+3A>G | Marfan syndrome [RCV005223766] | uncertain significance | 15 | 48430668 | 48430668 | Human | 1 | name |
| 597838921 | CV3867610 | deletion | NM_000138.5(FBN1):c.6038-3del | Marfan syndrome [RCV005210805] | benign | 15 | 48441849 | 48441849 | Human | 1 | name |
| 597869154 | CV3869520 | deletion | NM_000138.5(FBN1):c.2420-8del | Marfan syndrome [RCV005215451] | benign | 15 | 48495596 | 48495596 | Human | 1 | name |
| 597907303 | CV3870308 | single nucleotide variant | NM_000138.5(FBN1):c.6616+2T>A | Marfan syndrome [RCV005221359] | pathogenic | 15 | 48434592 | 48434592 | Human | 1 | name |
| 597907374 | CV3870318 | single nucleotide variant | NM_000138.5(FBN1):c.4582+2T>C | Marfan syndrome [RCV005221369] | pathogenic | 15 | 48468410 | 48468410 | Human | 1 | name |
| 597907389 | CV3870320 | single nucleotide variant | NM_000138.5(FBN1):c.4210+1G>T | Marfan syndrome [RCV005221371] | pathogenic | 15 | 48474254 | 48474254 | Human | 1 | name |
| 597907424 | CV3870325 | single nucleotide variant | NM_000138.5(FBN1):c.3712+4A>T | Marfan syndrome [RCV005221376] | pathogenic | 15 | 48485370 | 48485370 | Human | 1 | name |
| 597907951 | CV3870401 | single nucleotide variant | NM_000138.5(FBN1):c.442+15G>A | Marfan syndrome [RCV005221452] | likely benign | 15 | 48600124 | 48600124 | Human | 1 | name |
| 597908282 | CV3870448 | single nucleotide variant | NM_000138.5(FBN1):c.7454-8T>G | Marfan syndrome [RCV005221499] | likely benign | 15 | 48422076 | 48422076 | Human | 1 | name |
| 597855069 | CV3870594 | single nucleotide variant | NM_000138.5(FBN1):c.539-10T>C | Marfan syndrome [RCV005228795]|not specified [RCV005236846] | likely benign | 15 | 48537818 | 48537818 | Human | 1 | name |
| 597910050 | CV3870877 | single nucleotide variant | NM_000138.5(FBN1):c.7454-6T>A | Marfan syndrome [RCV005221739] | likely benign | 15 | 48422074 | 48422074 | Human | 1 | name |
| 597877386 | CV3871579 | deletion | NM_000138.5(FBN1):c.3838+9del | Marfan syndrome [RCV005216795] | likely benign | 15 | 48483809 | 48483809 | Human | 1 | name |
| 597847375 | CV3872686 | single nucleotide variant | NM_000138.5(FBN1):c.5545+7A>T | Marfan syndrome [RCV005212322] | likely benign | 15 | 48452555 | 48452555 | Human | 1 | name |
| 597848538 | CV3872846 | single nucleotide variant | NM_000138.5(FBN1):c.8052-9C>G | Marfan syndrome [RCV005212483] | likely benign | 15 | 48412752 | 48412752 | Human | 1 | name |
| 597902400 | CV3873070 | single nucleotide variant | NM_000138.5(FBN1):c.1961-1G>T | Marfan syndrome [RCV005220508] | pathogenic | 15 | 48503940 | 48503940 | Human | 1 | name |
| 597841098 | CV3873652 | single nucleotide variant | NM_000138.5(FBN1):c.6164-9A>T | Marfan syndrome [RCV005226479] | likely benign | 15 | 48437926 | 48437926 | Human | 1 | name |
| 597841181 | CV3873670 | single nucleotide variant | NM_000138.5(FBN1):c.5296+8A>T | Marfan syndrome [RCV005226497] | likely benign | 15 | 48460238 | 48460238 | Human | 1 | name |
| 597863484 | CV3875410 | single nucleotide variant | NM_000138.5(FBN1):c.6871+7G>A | Marfan syndrome [RCV005214587] | likely benign | 15 | 48430664 | 48430664 | Human | 1 | name |
| 597836430 | CV3875559 | single nucleotide variant | NM_000138.5(FBN1):c.347-12T>C | Marfan syndrome [RCV005225604] | likely benign | 15 | 48600246 | 48600246 | Human | 1 | name |
| 597899844 | CV3876083 | single nucleotide variant | NM_000138.5(FBN1):c.1327+4A>G | Marfan syndrome [RCV005219973] | uncertain significance | 15 | 48516179 | 48516179 | Human | 1 | name |
| 597899221 | CV3876177 | single nucleotide variant | NM_000138.5(FBN1):c.5224+2T>A | Marfan syndrome [RCV005220067] | likely pathogenic | 15 | 48463080 | 48463080 | Human | 1 | name |
| 597901927 | CV3876712 | single nucleotide variant | NM_000138.5(FBN1):c.1328-2A>G | Marfan syndrome [RCV005220410] | likely pathogenic | 15 | 48515529 | 48515529 | Human | 1 | name |
| 597924686 | CV3877325 | single nucleotide variant | NM_000138.5(FBN1):c.5297-7T>C | Marfan syndrome [RCV005224021] | likely benign | 15 | 48456769 | 48456769 | Human | 1 | name |
| 597924544 | CV3877329 | single nucleotide variant | NM_000138.5(FBN1):c.2113+8G>C | Marfan syndrome [RCV005224025] | likely benign | 15 | 48503779 | 48503779 | Human | 1 | name |
| 597839264 | CV3877479 | single nucleotide variant | NM_000138.5(FBN1):c.2167+3A>C | Marfan syndrome [RCV005226133] | uncertain significance | 15 | 48498982 | 48498982 | Human | 1 | name |
| 597839815 | CV3877580 | single nucleotide variant | NM_000138.5(FBN1):c.4582+1G>C | Marfan syndrome [RCV005226234] | pathogenic | 15 | 48468411 | 48468411 | Human | 1 | name |
| 597916104 | CV3879081 | single nucleotide variant | NM_000138.5(FBN1):c.7570+2T>G | Marfan syndrome [RCV005222617] | likely pathogenic | 15 | 48421950 | 48421950 | Human | 1 | name |
| 597911821 | CV3879592 | single nucleotide variant | NM_000138.5(FBN1):c.4337-4C>A | Marfan syndrome [RCV005221993] | likely benign | 15 | 48470760 | 48470760 | Human | 1 | name |
| 597860134 | CV3879865 | single nucleotide variant | NM_000138.5(FBN1):c.5918-9T>C | Marfan syndrome [RCV005229444] | likely benign | 15 | 48444669 | 48444669 | Human | 1 | name |
| 597914085 | CV3880082 | single nucleotide variant | NM_000138.5(FBN1):c.5297-1G>T | Marfan syndrome [RCV005222321] | pathogenic | 15 | 48456763 | 48456763 | Human | 1 | name |
| 598127591 | CV3882762 | single nucleotide variant | NM_000138.5(FBN1):c.1960+3A>G | not provided [RCV005234293] | uncertain significance | 15 | 48505022 | 48505022 | Human | | name |
| 598124476 | CV3885211 | single nucleotide variant | NM_000138.5(FBN1):c.5545+1G>C | Familial ectopia lentis [RCV005239788] | likely pathogenic | 15 | 48452561 | 48452561 | Human | 1 | name |
| 598121868 | CV3885772 | single nucleotide variant | NM_000138.5(FBN1):c.1837+5G>C | Marfan syndrome [RCV005241290] | likely pathogenic | 15 | 48508577 | 48508577 | Human | 1 | name |
| 598121869 | CV3885773 | single nucleotide variant | NM_000138.5(FBN1):c.6997+5G>C | Marfan syndrome [RCV005241291] | likely pathogenic | 15 | 48428341 | 48428341 | Human | 1 | name |
| 598121877 | CV3885781 | single nucleotide variant | NM_000138.5(FBN1):c.164+96C>T | Marfan syndrome [RCV005241299] | pathogenic | 15 | 48644510 | 48644510 | Human | 1 | name |
| 598121878 | CV3885782 | single nucleotide variant | NM_000138.5(FBN1):c.6617-8T>A | Marfan syndrome [RCV005241300] | uncertain significance | 15 | 48432996 | 48432996 | Human | 1 | name |
| 598121879 | CV3885783 | single nucleotide variant | NM_000138.5(FBN1):c.1961-3T>G | Marfan syndrome [RCV005241301] | pathogenic | 15 | 48503942 | 48503942 | Human | 1 | name |
| 598121880 | CV3885784 | single nucleotide variant | NM_000138.5(FBN1):c.2114-6T>G | Marfan syndrome [RCV005241302] | uncertain significance | 15 | 48499044 | 48499044 | Human | 1 | name |
| 598121881 | CV3885785 | single nucleotide variant | NM_000138.5(FBN1):c.-182+1G>A | Marfan syndrome [RCV005241303] | uncertain significance | 15 | 48645574 | 48645574 | Human | 1 | name |
| 598127910 | CV3888373 | single nucleotide variant | NM_000138.5(FBN1):c.2677+1G>T | not provided [RCV005243059] | likely pathogenic | 15 | 48495122 | 48495122 | Human | | name |
| 598122756 | CV3889908 | single nucleotide variant | NM_000138.5(FBN1):c.2114-3C>A | Marfan syndrome [RCV005250425] | likely pathogenic | 15 | 48499041 | 48499041 | Human | 1 | name |
| 598123853 | CV3890464 | single nucleotide variant | NM_000138.5(FBN1):c.3464-1G>C | Marfan syndrome [RCV005250983] | pathogenic | 15 | 48487201 | 48487201 | Human | 1 | name |
| 598221137 | CV3891896 | single nucleotide variant | NM_000138.5(FBN1):c.3209-2A>G | Marfan syndrome [RCV005253234] | pathogenic | 15 | 48488243 | 48488243 | Human | 1 | name |
| 598214318 | CV3962476 | single nucleotide variant | NM_000138.5(FBN1):c.7454-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV005339473] | pathogenic | 15 | 48422069 | 48422069 | Human | 1 | name |
| 598214296 | CV3966409 | single nucleotide variant | NM_000138.5(FBN1):c.4943-5T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV005339463] | uncertain significance | 15 | 48464026 | 48464026 | Human | 1 | name |
| 598214299 | CV3966410 | deletion | NM_000138.5(FBN1):c.3838+1del | Familial thoracic aortic aneurysm and aortic dissection [RCV005339464] | likely pathogenic | 15 | 48483817 | 48483817 | Human | 1 | name |
| 12886011 | CV400172 | single nucleotide variant | NM_000138.5(FBN1):c.5672-2A>G | Marfan syndrome [RCV000466451] | pathogenic | 15 | 48446824 | 48446824 | Human | 1 | name |
| 12881973 | CV400182 | single nucleotide variant | NM_000138.5(FBN1):c.4583-5A>G | Marfan syndrome [RCV000458795]|Marfan syndrome [RCV003235218] | likely pathogenic | 15 | 48468107 | 48468107 | Human | 1 | name |
| 12889115 | CV400188 | single nucleotide variant | NM_000138.5(FBN1):c.4583-5A>C | Marfan syndrome [RCV001490497] | likely benign | 15 | 48468107 | 48468107 | Human | 1 | name |
| 12888014 | CV400229 | single nucleotide variant | NM_000138.5(FBN1):c.1837+4C>T | FBN1-related disorder [RCV004737509]|Familial thoracic aortic aneurysm and aortic dissection [RCV001180046]|Marfan syndrome [RCV000470131]|not provided [RCV001662422] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48508578 | 48508578 | Human | 3 | name |
| 12880782 | CV400240 | single nucleotide variant | NM_000138.5(FBN1):c.1469-5T>G | Marfan syndrome [RCV001474556]|Marfan syndrome [RCV004002118] | likely benign|uncertain significance | 15 | 48513673 | 48513673 | Human | 1 | name |
| 12881053 | CV400397 | single nucleotide variant | NM_000138.5(FBN1):c.2420-2A>G | Marfan syndrome [RCV000457150] | likely pathogenic | 15 | 48495590 | 48495590 | Human | 1 | name |
| 12884142 | CV400634 | single nucleotide variant | NM_000138.5(FBN1):c.6164-1G>A | Marfan syndrome [RCV000462921]|Marfan syndrome [RCV005208710] | pathogenic | 15 | 48437918 | 48437918 | Human | 1 | name |
| 12887407 | CV400694 | single nucleotide variant | NM_000138.5(FBN1):c.2677+3A>G | Marfan syndrome [RCV000469002] | uncertain significance | 15 | 48495120 | 48495120 | Human | 1 | name |
| 12887110 | CV400698 | single nucleotide variant | NM_000138.5(FBN1):c.2420-8T>A | Marfan syndrome [RCV000468474] | uncertain significance | 15 | 48495596 | 48495596 | Human | 1 | name |
| 12886189 | CV400705 | single nucleotide variant | NM_000138.5(FBN1):c.2293+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002446792]|Marfan syndrome [RCV001377724] | pathogenic|likely pathogenic | 15 | 48497265 | 48497265 | Human | 3 | name |
| 12882736 | CV400961 | single nucleotide variant | NM_000138.5(FBN1):c.7330+7G>A | Marfan syndrome [RCV000460233] | likely benign | 15 | 48425732 | 48425732 | Human | 1 | name |
| 616935649 | CV4010233 | single nucleotide variant | NM_000138.5(FBN1):c.4943-2A>T | Familial thoracic aortic aneurysm and aortic dissection [RCV005403534] | likely pathogenic | 15 | 48464023 | 48464023 | Human | 1 | name |
| 616935676 | CV4010252 | single nucleotide variant | NM_000138.5(FBN1):c.5918-8C>A | Familial thoracic aortic aneurysm and aortic dissection [RCV005403553] | uncertain significance | 15 | 48444668 | 48444668 | Human | 1 | name |
| 616935848 | CV4010355 | single nucleotide variant | NM_000138.5(FBN1):c.6314-3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV005403656] | likely benign | 15 | 48437390 | 48437390 | Human | 1 | name |
| 616938871 | CV4015183 | single nucleotide variant | NM_000138.5(FBN1):c.6379+1G>T | Marfan syndrome [RCV005412197] | likely pathogenic | 15 | 48437321 | 48437321 | Human | 1 | name |
| 12895700 | CV409259 | single nucleotide variant | NM_000138.5(FBN1):c.6872-2A>G | not provided [RCV000487420] | pathogenic | 15 | 48428473 | 48428473 | Human | | name |
| 12894234 | CV409261 | single nucleotide variant | NM_000138.5(FBN1):c.6616+1G>A | Marfan syndrome [RCV000663884]|Marfan syndrome [RCV000808422]|not provided [RCV000482028] | pathogenic|likely pathogenic | 15 | 48434593 | 48434593 | Human | 1 | name |
| 12893202 | CV409265 | single nucleotide variant | NM_000138.5(FBN1):c.6037+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002356789]|not provided [RCV000478107] | pathogenic|likely pathogenic | 15 | 48444540 | 48444540 | Human | 1 | name |
| 12895121 | CV409270 | single nucleotide variant | NM_000138.5(FBN1):c.5422+1G>A | Marfan syndrome [RCV001389172]|not provided [RCV000485314] | pathogenic|likely pathogenic | 15 | 48456636 | 48456636 | Human | 1 | name |
| 12895285 | CV409286 | single nucleotide variant | NM_000138.5(FBN1):c.2294-1G>T | Cardiovascular phenotype [RCV005404613]|Connective tissue disorder [RCV002279239]|not provided [RCV000485881] | pathogenic|likely pathogenic | 15 | 48496226 | 48496226 | Human | 1 | name |
| 12899192 | CV409298 | deletion | NM_000138.5(FBN1):c.863-10del | Familial thoracic aortic aneurysm and aortic dissection [RCV000776313]|Marfan syndrome [RCV000862802]|not specified [RCV000479645] | likely benign | 15 | 48526265 | 48526265 | Human | 3 | name |
| 12906973 | CV415426 | single nucleotide variant | NM_000138.5(FBN1):c.6379+5G>C | not provided [RCV000489874] | uncertain significance | 15 | 48437317 | 48437317 | Human | | name |
| 12907255 | CV415432 | single nucleotide variant | NM_000138.5(FBN1):c.2677+5G>C | not provided [RCV000490222] | likely pathogenic | 15 | 48495118 | 48495118 | Human | | name |
| 12913092 | CV422019 | single nucleotide variant | NM_000138.5(FBN1):c.7819+1G>A | Marfan syndrome [RCV000663981]|Marfan syndrome [RCV003766779]|not provided [RCV000493377] | pathogenic|likely pathogenic | 15 | 48420686 | 48420686 | Human | 1 | name |
| 12913968 | CV422022 | single nucleotide variant | NM_000138.5(FBN1):c.6997+2T>C | not provided [RCV000494479] | pathogenic | 15 | 48428344 | 48428344 | Human | | name |
| 12913395 | CV422036 | single nucleotide variant | NM_000138.5(FBN1):c.3713-2A>T | not provided [RCV000493765] | pathogenic | 15 | 48483945 | 48483945 | Human | | name |
| 13436727 | CV433136 | single nucleotide variant | NM_000138.5(FBN1):c.7699+5G>A | Marfan syndrome [RCV000663969]|Marfan syndrome [RCV003766879]|not provided [RCV003144298]|not specified [RCV000507664] | likely pathogenic|uncertain significance | 15 | 48421553 | 48421553 | Human | 1 | name |
| 13435838 | CV433146 | single nucleotide variant | NM_000138.5(FBN1):c.1961-2A>G | Marfan syndrome [RCV005213312]|not specified [RCV000506100] | pathogenic | 15 | 48503941 | 48503941 | Human | 1 | name |
| 13435929 | CV433554 | single nucleotide variant | NM_000138.5(FBN1):c.4336+7G>T | Marfan syndrome [RCV001497643]|not specified [RCV000506271] | likely benign | 15 | 48472544 | 48472544 | Human | 1 | name |
| 13436093 | CV433559 | single nucleotide variant | NM_000138.5(FBN1):c.7700-9C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001525738]|Marfan syndrome [RCV003766880]|not provided [RCV001712467]|not specified [RCV000506558] | likely benign|uncertain significance | 15 | 48420815 | 48420815 | Human | 3 | name |
| 13446243 | CV437979 | single nucleotide variant | NM_000138.5(FBN1):c.7204+7C>G | FBN1-related disorder [RCV004535650]|Marfan syndrome [RCV001087524]|not provided [RCV000513468]|not specified [RCV000780263] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48427560 | 48427560 | Human | 3 | name |
| 13446102 | CV437981 | single nucleotide variant | NM_000138.5(FBN1):c.4336+8A>G | not provided [RCV000513277] | uncertain significance | 15 | 48472543 | 48472543 | Human | | name |
| 13475872 | CV445347 | single nucleotide variant | NM_000138.5(FBN1):c.6313+3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV003150254]|Marfan syndrome [RCV000693630]|Marfan syndrome [RCV004698427]|not provided [RCV001704660] | pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records | 15 | 48437765 | 48437765 | Human | 3 | name |
| 13473342 | CV445348 | single nucleotide variant | NM_000138.5(FBN1):c.6313+2T>C | Marfan syndrome [RCV000663861]|not provided [RCV000519359] | pathogenic|likely pathogenic | 15 | 48437766 | 48437766 | Human | 1 | name |
| 13472199 | CV445352 | single nucleotide variant | NM_000138.5(FBN1):c.4747+3A>C | not provided [RCV000519067] | uncertain significance | 15 | 48467935 | 48467935 | Human | | name |
| 13481673 | CV445363 | single nucleotide variant | NM_000138.5(FBN1):c.2854+1G>T | Marfan syndrome [RCV003766971]|not provided [RCV000521571] | pathogenic | 15 | 48492460 | 48492460 | Human | 1 | name |
| 13483251 | CV445374 | single nucleotide variant | NM_000138.5(FBN1):c.1148-1G>A | not provided [RCV000522007] | likely pathogenic | 15 | 48516363 | 48516363 | Human | | name |
| 8569393 | CV44699 | deletion | NM_000138.5(FBN1):c.165-32del | Marfan syndrome [RCV000029695] | uncertain significance | 15 | 48613124 | 48613124 | Human | 1 | name |
| 8569415 | CV44722 | single nucleotide variant | NM_000138.5(FBN1):c.2855-1G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV002433477]|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV005237425] | likely pathogenic | 15 | 48490079 | 48490079 | Human | 2 | name |
| 8569416 | CV44723 | single nucleotide variant | NM_000138.5(FBN1):c.2855-8T>C | FBN1-related disorder [RCV004532411]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528138]|Marfan syndrome [RCV003764640]|not specified [RCV005406762] | likely benign|uncertain significance | 15 | 48490086 | 48490086 | Human | 3 | name |
| 8569419 | CV44726 | deletion | NM_000138.5(FBN1):c.3082+8del | FBN1-related disorder [RCV004532412]|Familial thoracic aortic aneurysm and aortic dissection [RCV000181401]|Marfan syndrome [RCV000029722]|Marfan syndrome [RCV000467956]|not provided [RCV001579674]|not specified [RCV000035161] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48489843 | 48489843 | Human | 3 | name |
| 8569428 | CV44736 | single nucleotide variant | NM_000138.5(FBN1):c.3965-8T>C | Acromicric dysplasia [RCV000273766]|Connective tissue disorder [RCV002276586]|Ectopia lentis 1, isolated, autosomal dominant [RCV000333438]|Familial thoracic aortic aneurysm and aortic dissection [RCV000382616]|Geleophysic dysplasia [RCV000263228]|Marfan syndrome [RCV000029734]|Marfan syndrome [RCV0 00229052]|Stiff skin syndrome [RCV000368347]|Weill-Marchesani syndrome [RCV000353387]|not provided [RCV001811208]|not specified [RCV000035183] | benign|likely benign|conflicting interpretations of pathogenicity | 15 | 48474658 | 48474658 | Human | 9 | name |
| 8569431 | CV44739 | single nucleotide variant | NM_000138.5(FBN1):c.4460-8G>A | Ectopia lentis 1, isolated, autosomal dominant [RCV005406763]|Familial thoracic aortic aneurysm and aortic dissection [RCV002326689]|Marfan syndrome [RCV000029737]|Marfan syndrome [RCV000524498]|not provided [RCV000429823]|not specified [RCV000507229] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity | 15 | 48468542 | 48468542 | Human | 10 | name |
| 8569435 | CV44745 | single nucleotide variant | NM_000138.5(FBN1):c.4747+5G>C | Marfan syndrome [RCV000029743]|Marfan syndrome [RCV000631976] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 48467933 | 48467933 | Human | 1 | name |
| 8569440 | CV44751 | deletion | NM_000138.5(FBN1):c.539-15del | FBN1-related disorder [RCV004532414]|Familial thoracic aortic aneurysm and aortic dissection [RCV000181396]|Marfan syndrome [RCV000029749]|Marfan syndrome [RCV002054492] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48537823 | 48537823 | Human | 3 | name |
| 8569446 | CV44757 | single nucleotide variant | NM_000138.5(FBN1):c.5672-3T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV000771199]|Marfan syndrome [RCV000029755]|Marfan syndrome [RCV000864829]|not provided [RCV003144113] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48446825 | 48446825 | Human | 3 | name |
| 8569448 | CV44759 | single nucleotide variant | NM_000138.5(FBN1):c.5788+5G>T | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV004700286]|Marfan syndrome [RCV000029757]|Marfan syndrome [RCV005222707] | pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48446701 | 48446701 | Human | 2 | name |
| 8569472 | CV44784 | single nucleotide variant | NM_000138.5(FBN1):c.7820-3C>G | Marfan syndrome [RCV000029782] | uncertain significance | 15 | 48415770 | 48415770 | Human | 1 | name |
| 8569480 | CV44791 | single nucleotide variant | NM_000138.5(FBN1):c.8226+5G>T | Marfan syndrome [RCV000029790] | uncertain significance | 15 | 48412564 | 48412564 | Human | 1 | name |
| 13492404 | CV464335 | single nucleotide variant | NM_000138.5(FBN1):c.6616+1G>C | Marfan syndrome [RCV000557422] | pathogenic | 15 | 48434593 | 48434593 | Human | 1 | name |
| 13482561 | CV464359 | single nucleotide variant | NM_000138.5(FBN1):c.4582+1G>T | Marfan syndrome [RCV000551908] | pathogenic | 15 | 48468411 | 48468411 | Human | 1 | name |
| 13478554 | CV464375 | single nucleotide variant | NM_000138.5(FBN1):c.4459+2T>G | Marfan syndrome [RCV000550114] | likely pathogenic | 15 | 48470632 | 48470632 | Human | 1 | name |
| 13478507 | CV464837 | single nucleotide variant | NM_000138.5(FBN1):c.7819+1G>T | Marfan syndrome [RCV000527653] | pathogenic|likely pathogenic | 15 | 48420686 | 48420686 | Human | 1 | name |
| 13501987 | CV464904 | single nucleotide variant | NM_000138.5(FBN1):c.4582+5G>C | Marfan syndrome [RCV000541513]|Marfan syndrome [RCV000663739] | uncertain significance | 15 | 48468407 | 48468407 | Human | 1 | name |
| 13475624 | CV464962 | single nucleotide variant | NM_000138.5(FBN1):c.2168-9G>T | Marfan syndrome [RCV000548801] | uncertain significance | 15 | 48497400 | 48497400 | Human | 1 | name |
| 13489818 | CV465099 | single nucleotide variant | NM_000138.5(FBN1):c.5788+4C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003528185]|Marfan syndrome [RCV000533117]|not provided [RCV003317259]|not specified [RCV001264509] | uncertain significance | 15 | 48446702 | 48446702 | Human | 3 | name |
| 13471975 | CV465106 | single nucleotide variant | NM_000138.5(FBN1):c.4943-4A>G | Marfan syndrome [RCV000524684]|Marfan syndrome [RCV004003789]|not provided [RCV005243269] | likely benign | 15 | 48464025 | 48464025 | Human | 1 | name |
| 13492208 | CV465115 | single nucleotide variant | NM_000138.5(FBN1):c.4337-2A>T | Marfan syndrome [RCV000557265] | pathogenic|likely pathogenic | 15 | 48470758 | 48470758 | Human | 1 | name |
| 13470772 | CV465117 | single nucleotide variant | NM_000138.5(FBN1):c.4210+3A>G | Marfan syndrome [RCV000546403] | uncertain significance | 15 | 48474252 | 48474252 | Human | 1 | name |
| 13492969 | CV465148 | single nucleotide variant | NM_000138.5(FBN1):c.8051+5G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001176127]|Marfan syndrome [RCV000557828]|Marfan syndrome [RCV002245998]|not provided [RCV004696933]|not specified [RCV004525961] | pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48415531 | 48415531 | Human | 3 | name |
| 13498961 | CV465163 | single nucleotide variant | NM_000138.5(FBN1):c.6871+3A>T | Marfan syndrome [RCV000539527] | uncertain significance | 15 | 48430668 | 48430668 | Human | 1 | name |
| 13490733 | CV465177 | single nucleotide variant | NM_000138.5(FBN1):c.6038-1G>A | Marfan syndrome [RCV000533716] | pathogenic | 15 | 48441847 | 48441847 | Human | 1 | name |
| 13484022 | CV465184 | single nucleotide variant | NM_000138.5(FBN1):c.5788+2T>C | Marfan syndrome [RCV000552566] | likely pathogenic | 15 | 48446704 | 48446704 | Human | 1 | name |
| 13496130 | CV465185 | single nucleotide variant | NM_000138.5(FBN1):c.4817-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002330832]|Marfan syndrome [RCV000560148] | likely pathogenic | 15 | 48465695 | 48465695 | Human | 3 | name |
| 13492769 | CV465187 | single nucleotide variant | NM_000138.5(FBN1):c.4747+5G>T | Marfan syndrome [RCV000535198] | likely pathogenic | 15 | 48467933 | 48467933 | Human | 1 | name |
| 13490568 | CV465189 | duplication | NM_000138.5(FBN1):c.4582+2dup | Marfan syndrome [RCV000533606] | pathogenic|likely pathogenic | 15 | 48468409 | 48468410 | Human | 1 | name |
| 13482547 | CV465220 | deletion | NM_000138.5(FBN1):c.2729-3del | Familial thoracic aortic aneurysm and aortic dissection [RCV001188954]|Marfan syndrome [RCV000529462] | likely benign | 15 | 48492589 | 48492589 | Human | 3 | name |
| 13482688 | CV465235 | single nucleotide variant | NM_000138.5(FBN1):c.2677+5G>A | Marfan syndrome [RCV000551971] | uncertain significance | 15 | 48495118 | 48495118 | Human | 1 | name |
| 13511077 | CV485758 | single nucleotide variant | NM_000138.5(FBN1):c.4088-2A>C | Marfan syndrome [RCV000581910] | pathogenic | 15 | 48474379 | 48474379 | Human | 1 | name |
| 8570768 | CV48729 | single nucleotide variant | NM_000138.5(FBN1):c.8226+1G>T | Marfan syndrome [RCV001386016]|Progeroid and marfanoid aspect-lipodystrophy syndrome [RCV000033243] | pathogenic | 15 | 48412568 | 48412568 | Human | 4 | name |
| 13519847 | CV487543 | single nucleotide variant | NM_000138.5(FBN1):c.7819+3A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV005338258]|Marfan syndrome [RCV000663982]|Marfan syndrome [RCV000795274]|not provided [RCV000586667] | likely pathogenic|uncertain significance | 15 | 48420684 | 48420684 | Human | 3 | name |
| 13518112 | CV487564 | single nucleotide variant | NM_000138.5(FBN1):c.5422+2T>C | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV000589209]|Marfan syndrome [RCV002530895] | pathogenic|likely pathogenic | 15 | 48456635 | 48456635 | Human | 2 | name |
| 13518124 | CV487570 | single nucleotide variant | NM_000138.5(FBN1):c.4337-1G>A | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV000589527]|Marfan syndrome [RCV002289885] | pathogenic|likely pathogenic | 15 | 48470757 | 48470757 | Human | 2 | name |
| 13520132 | CV487743 | deletion | NM_000138.5(FBN1):c.538+12del | Marfan syndrome [RCV002065129]|not provided [RCV000587207]|not specified [RCV005240246] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48596271 | 48596271 | Human | 1 | name |
| 13521200 | CV487821 | single nucleotide variant | NM_000138.5(FBN1):c.6379+9C>T | Marfan syndrome [RCV002061972]|not specified [RCV005240248] | likely benign|uncertain significance | 15 | 48437313 | 48437313 | Human | 1 | name |
| 13520459 | CV487836 | single nucleotide variant | NM_000138.5(FBN1):c.5672-6T>A | Familial thoracic aortic aneurysm and aortic dissection [RCV003528197]|Marfan syndrome [RCV003767330]|not specified [RCV005407766] | likely benign|uncertain significance | 15 | 48446828 | 48446828 | Human | 3 | name |
| 13520528 | CV495344 | single nucleotide variant | NM_000138.5(FBN1):c.5672-1G>C | Cardiovascular phenotype [RCV005404722]|not provided [RCV000598705] | pathogenic|likely pathogenic | 15 | 48446823 | 48446823 | Human | | name |
| 13536139 | CV504826 | single nucleotide variant | NM_000138.5(FBN1):c.2854+5A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002438563]|Marfan syndrome [RCV000632020]|Marfan syndrome [RCV004002505]|not provided [RCV001704741] | likely benign|uncertain significance | 15 | 48492456 | 48492456 | Human | 3 | name |
| 13539482 | CV504865 | single nucleotide variant | NM_000138.5(FBN1):c.989-18G>A | Marfan syndrome [RCV002529685]|not specified [RCV000613343] | likely benign | 15 | 48520835 | 48520835 | Human | 1 | name |
| 13540328 | CV505054 | single nucleotide variant | NM_000138.5(FBN1):c.3082+9T>A | Marfan syndrome [RCV001416513]|not specified [RCV000614545] | likely benign | 15 | 48489842 | 48489842 | Human | 1 | name |
| 13541518 | CV505292 | single nucleotide variant | NM_000138.5(FBN1):c.4748-7T>C | not specified [RCV000616266] | likely benign | 15 | 48465865 | 48465865 | Human | | name |
| 13535961 | CV505298 | single nucleotide variant | NM_000138.5(FBN1):c.4460-9C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV003528208]|Marfan syndrome [RCV002064014]|Marfan syndrome [RCV004002532]|not specified [RCV000608312] | likely benign | 15 | 48468543 | 48468543 | Human | 3 | name |
| 13538075 | CV505299 | single nucleotide variant | NM_000138.5(FBN1):c.4337-9C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001186521]|Marfan syndrome [RCV001460326]|Marfan syndrome [RCV004002586]|not specified [RCV000611307] | likely benign | 15 | 48470765 | 48470765 | Human | 3 | name |
| 13525223 | CV505306 | single nucleotide variant | NM_000138.5(FBN1):c.346+16C>T | Ectopia lentis 1, isolated, autosomal dominant [RCV002491264]|Marfan syndrome [RCV002531557]|not specified [RCV000602870] | likely benign|conflicting interpretations of pathogenicity | 15 | 48610712 | 48610712 | Human | 2 | name |
| 13526178 | CV505654 | single nucleotide variant | NM_000138.5(FBN1):c.7820-4G>A | Acromicric dysplasia [RCV001120093]|Ectopia lentis 1, isolated, autosomal dominant [RCV001120092]|Familial thoracic aortic aneurysm and aortic dissection [RCV001120097]|Geleophysic dysplasia [RCV001120095]|Marfan syndrome [RCV001120094]|Marfan syndrome [RCV005213352]|Stiff skin syndrome [RCV00112009 8]|Weill-Marchesani syndrome [RCV001120096]|not specified [RCV000603775] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48415771 | 48415771 | Human | 8 | name |
| 13592773 | CV505724 | single nucleotide variant | NM_000138.5(FBN1):c.1468+4C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001181631]|Marfan syndrome [RCV001860329]|Marfan syndrome [RCV004002596]|not specified [RCV000600067] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48515383 | 48515383 | Human | 3 | name |
| 13535909 | CV505735 | single nucleotide variant | NM_000138.5(FBN1):c.442+19T>C | Marfan syndrome [RCV002062197]|not specified [RCV000608228] | likely benign | 15 | 48600120 | 48600120 | Human | 1 | name |
| 13525703 | CV508719 | single nucleotide variant | NM_000138.5(FBN1):c.5917+6T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV000615772]|Marfan syndrome [RCV005001993]|Marfan syndrome [RCV005223063] | pathogenic|likely pathogenic | 15 | 48445370 | 48445370 | Human | 3 | name |
| 13525621 | CV508723 | single nucleotide variant | NM_000138.5(FBN1):c.2168-1G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV000609898]|Marfan syndrome [RCV001224813] | pathogenic|likely pathogenic | 15 | 48497392 | 48497392 | Human | 3 | name |
| 13529901 | CV510545 | single nucleotide variant | NM_000138.5(FBN1):c.7330+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002314337]|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV001779026] | pathogenic | 15 | 48425738 | 48425738 | Human | 2 | name |
| 13529508 | CV510550 | single nucleotide variant | NM_000138.5(FBN1):c.6740-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002314321]|not provided [RCV001572478] | pathogenic | 15 | 48430803 | 48430803 | Human | 1 | name |
| 13527192 | CV510575 | duplication | NM_000138.5(FBN1):c.5065+2dup | Familial thoracic aortic aneurysm and aortic dissection [RCV002314351]|Marfan syndrome [RCV000813511]|Marfan syndrome [RCV004776292] | pathogenic|drug response|uncertain significance | 15 | 48463896 | 48463897 | Human | 3 | name |
| 13534640 | CV510581 | single nucleotide variant | NM_000138.5(FBN1):c.4816+1G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV002314299]|Marfan syndrome [RCV000663750]|Marfan syndrome [RCV002531817] | pathogenic|likely pathogenic | 15 | 48465789 | 48465789 | Human | 3 | name |
| 13529445 | CV510589 | single nucleotide variant | NM_000138.5(FBN1):c.4336+4A>C | FBN1-related disorder [RCV004544810]|Familial thoracic aortic aneurysm and aortic dissection [RCV002314344]|Marfan syndrome [RCV001868122]|not specified [RCV001175568] | likely benign|uncertain significance | 15 | 48472547 | 48472547 | Human | 3 | name |
| 13528943 | CV510617 | single nucleotide variant | NM_000138.5(FBN1):c.2419+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002314315]|Marfan syndrome [RCV001256946] | likely pathogenic | 15 | 48496099 | 48496099 | Human | 3 | name |
| 13534186 | CV510621 | single nucleotide variant | NM_000138.5(FBN1):c.2168-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV002314322] | pathogenic | 15 | 48497393 | 48497393 | Human | 1 | name |
| 8605129 | CV51453 | single nucleotide variant | NM_000138.5(FBN1):c.1148-2A>G | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV000780240]|Marfan syndrome [RCV000035116]|Marfan syndrome [RCV001852705]|not provided [RCV000480005] | pathogenic|likely pathogenic | 15 | 48516364 | 48516364 | Human | 2 | name |
| 8605130 | CV51454 | single nucleotide variant | NM_000138.5(FBN1):c.1468+5G>A | Ectopia lentis 1, isolated, autosomal dominant [RCV000515263]|Familial thoracic aortic aneurysm and aortic dissection [RCV000251716]|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV003226174]|Marfan syndrome [RCV000035117]|Marfan syndrome [RCV000631905]|no t provided [RCV000181432] | pathogenic|likely pathogenic | 15 | 48515382 | 48515382 | Human | 11 | name |
| 8605138 | CV51462 | single nucleotide variant | NM_000138.5(FBN1):c.1837+1G>T | Marfan syndrome [RCV000035126]|Marfan syndrome [RCV003764661] | pathogenic|likely pathogenic | 15 | 48508581 | 48508581 | Human | 1 | name |
| 8605163 | CV51488 | single nucleotide variant | NM_000138.5(FBN1):c.2855-1G>A | Marfan syndrome [RCV000035152] | pathogenic | 15 | 48490079 | 48490079 | Human | 1 | name |
| 8605164 | CV51489 | single nucleotide variant | NM_000138.5(FBN1):c.2855-9C>T | Acromicric dysplasia [RCV000327947]|Ectopia lentis 1, isolated, autosomal dominant [RCV000273258]|Familial thoracic aortic aneurysm and aortic dissection [RCV000267449]|Geleophysic dysplasia [RCV000288136]|Marfan syndrome [RCV000382543]|Marfan syndrome [RCV000470457]|Stiff skin syndrome [RCV00032251 6]|Weill-Marchesani syndrome [RCV000377099]|not provided [RCV001701573]|not specified [RCV000035153] | benign|likely benign | 15 | 48490087 | 48490087 | Human | 8 | name |
| 8605173 | CV51498 | single nucleotide variant | NM_000138.5(FBN1):c.3209-3C>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001192098]|Marfan syndrome [RCV001852708]|Marfan syndrome [RCV003996186]|not specified [RCV000035164] | uncertain significance | 15 | 48488244 | 48488244 | Human | 3 | name |
| 8605176 | CV51501 | single nucleotide variant | NM_000138.5(FBN1):c.3337+1G>A | Marfan syndrome [RCV000035167]|Marfan syndrome [RCV003764664] | pathogenic|likely pathogenic | 15 | 48488112 | 48488112 | Human | 1 | name |
| 8605181 | CV51506 | single nucleotide variant | NM_000138.5(FBN1):c.3463+1G>T | Marfan syndrome [RCV000035173] | pathogenic | 15 | 48487311 | 48487311 | Human | 1 | name |
| 8605182 | CV51507 | single nucleotide variant | NM_000138.5(FBN1):c.3463+3A>G | Acromicric dysplasia [RCV000406396]|Connective tissue disorder [RCV002277121]|Ectopia lentis 1, isolated, autosomal dominant [RCV000342160]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244214]|Geleophysic dysplasia [RCV000377058]|Marfan syndrome [RCV000285026]|Marfan syndrome [RCV0 00474941]|Stiff skin syndrome [RCV000336424]|Weill-Marchesani syndrome [RCV000278991]|not provided [RCV001811238]|not specified [RCV000035174] | benign|likely benign|conflicting interpretations of pathogenicity | 15 | 48487309 | 48487309 | Human | 9 | name |
| 8605207 | CV51532 | single nucleotide variant | NM_000138.5(FBN1):c.4459+3A>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001798074]|Marfan syndrome [RCV002513352]|not specified [RCV000035202] | uncertain significance | 15 | 48470631 | 48470631 | Human | 3 | name |
| 8605218 | CV51544 | single nucleotide variant | NM_000138.5(FBN1):c.4942+4A>G | Marfan syndrome [RCV000791323]|Marfan syndrome [RCV001306631]|not provided [RCV001753441]|not specified [RCV000035215] | uncertain significance | 15 | 48465564 | 48465564 | Human | 1 | name |
| 8605222 | CV51548 | single nucleotide variant | NM_000138.5(FBN1):c.5066-1G>C | Marfan syndrome [RCV000035219] | pathogenic | 15 | 48463241 | 48463241 | Human | 1 | name |
| 8605238 | CV51564 | single nucleotide variant | NM_000138.5(FBN1):c.5788+5G>A | FBN1-related disorder [RCV004534734]|Familial thoracic aortic aneurysm and aortic dissection [RCV001170536]|Ischemic stroke [RCV000415118]|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV000781375]|Marfan syndrome [RCV 000035236]|Marfan syndrome [RCV000684778]|See cases [RCV002287351]|not provided [RCV000181550] | pathogenic|likely pathogenic | 15 | 48446701 | 48446701 | Human | 18 | name |
| 8605244 | CV51570 | single nucleotide variant | NM_000138.5(FBN1):c.6379+1G>A | Marfan syndrome [RCV000035242]|Marfan syndrome [RCV001852715] | pathogenic|likely pathogenic | 15 | 48437321 | 48437321 | Human | 1 | name |
| 8605270 | CV51596 | single nucleotide variant | NM_000138.5(FBN1):c.7453+1G>T | Marfan syndrome [RCV000035271] | likely pathogenic | 15 | 48425368 | 48425368 | Human | 1 | name |
| 8605275 | CV51601 | deletion | NM_000138.5(FBN1):c.7699+5del | not specified [RCV000035276] | uncertain significance | 15 | 48421553 | 48421553 | Human | | name |
| 8605277 | CV51603 | single nucleotide variant | NM_000138.5(FBN1):c.7819+8A>C | Acromicric dysplasia [RCV000286302]|Connective tissue disorder [RCV002277124]|Ectopia lentis 1, isolated, autosomal dominant [RCV000375268]|Familial thoracic aortic aneurysm and aortic dissection [RCV000260707]|Geleophysic dysplasia [RCV000321497]|Marfan syndrome [RCV000343824]|Marfan syndrome [RCV0 00464649]|Stiff skin syndrome [RCV000264054]|Weill-Marchesani syndrome [RCV000378426]|not provided [RCV001573981]|not specified [RCV000035278] | benign|likely benign | 15 | 48420679 | 48420679 | Human | 10 | name |
| 8605277 | CV51603 | single nucleotide variant | NM_000138.5(FBN1):c.7819+8A>C | Acromicric dysplasia [RCV000286302]|Connective tissue disorder [RCV002277124]|Ectopia lentis 1, isolated, autosomal dominant [RCV000375268]|Familial thoracic aortic aneurysm and aortic dissection [RCV000260707]|Geleophysic dysplasia [RCV000321497]|Marfan syndrome [RCV000343824]|Marfan syndrome [RCV0 00464649]|Stiff skin syndrome [RCV000264054]|Weill-Marchesani syndrome [RCV000378426]|not provided [RCV001573981]|not specified [RCV000035278] | benign|likely benign | 15 | 48420679 | 48420680 | Human | 10 | name |
| 13614298 | CV528957 | single nucleotide variant | NM_000138.5(FBN1):c.4816+1G>C | Marfan syndrome [RCV000631900] | pathogenic|likely pathogenic | 15 | 48465789 | 48465789 | Human | 1 | name |
| 13614487 | CV528962 | single nucleotide variant | NM_000138.5(FBN1):c.4748-9T>C | Marfan syndrome [RCV000632055]|Marfan syndrome [RCV004003823] | likely benign|uncertain significance | 15 | 48465867 | 48465867 | Human | 1 | name |
| 13614420 | CV528967 | single nucleotide variant | NM_000138.5(FBN1):c.4087+6T>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001525082]|Marfan syndrome [RCV000631986] | uncertain significance | 15 | 48474522 | 48474522 | Human | 3 | name |
| 13614483 | CV528981 | single nucleotide variant | NM_000138.5(FBN1):c.2729-8C>T | Marfan syndrome [RCV000632051]|not provided [RCV004704140] | likely benign | 15 | 48492594 | 48492594 | Human | 1 | name |
| 13614381 | CV529294 | single nucleotide variant | NM_000138.5(FBN1):c.6380-2A>G | Marfan syndrome [RCV000631949] | likely pathogenic | 15 | 48437079 | 48437079 | Human | 1 | name |
| 13614302 | CV529437 | single nucleotide variant | NM_000138.5(FBN1):c.6998-2A>T | Marfan syndrome [RCV000631902] | pathogenic | 15 | 48427775 | 48427775 | Human | 1 | name |
| 13614316 | CV529483 | single nucleotide variant | NM_000138.5(FBN1):c.3337+1G>T | Marfan syndrome [RCV000631919] | pathogenic | 15 | 48488112 | 48488112 | Human | 1 | name |
| 13614331 | CV529507 | single nucleotide variant | NM_000138.5(FBN1):c.1837+5G>A | Ectopia lentis 1, isolated, autosomal dominant [RCV002507064]|Familial thoracic aortic aneurysm and aortic dissection [RCV002413803]|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV003117440]|Marfan syndrome [RCV000631930]|Marfan syndrome [RCV000663500]|no t provided [RCV001536170] | pathogenic|likely pathogenic|uncertain significance | 15 | 48508577 | 48508577 | Human | 11 | name |
| 13614430 | CV529520 | single nucleotide variant | NM_000138.5(FBN1):c.1589-1G>A | Marfan syndrome [RCV000631994] | pathogenic | 15 | 48510170 | 48510170 | Human | 1 | name |
| 13706100 | CV537240 | single nucleotide variant | NM_000138.5(FBN1):c.1715-8A>G | Marfan syndrome [RCV003767900]|not provided [RCV000658711] | likely benign|uncertain significance | 15 | 48508712 | 48508712 | Human | 1 | name |
| 13704409 | CV538035 | single nucleotide variant | NM_000138.5(FBN1):c.7205-2A>C | Marfan syndrome [RCV000659577] | likely pathogenic | 15 | 48425866 | 48425866 | Human | 1 | name |
| 13704408 | CV538050 | single nucleotide variant | NM_000138.5(FBN1):c.5296+6T>C | Cardiovascular phenotype [RCV005405262]|Marfan syndrome [RCV000659553]|Marfan syndrome [RCV003767908] | likely pathogenic|uncertain significance | 15 | 48460240 | 48460240 | Human | 3 | name |
| 13704407 | CV538052 | single nucleotide variant | NM_000138.5(FBN1):c.5065+1G>T | Marfan syndrome [RCV000659551]|Marfan syndrome [RCV002534321]|not provided [RCV003126898] | pathogenic|likely pathogenic | 15 | 48463898 | 48463898 | Human | 1 | name |
| 13706701 | CV538053 | single nucleotide variant | NM_000138.5(FBN1):c.5065+1G>C | Marfan syndrome [RCV000659550]|Marfan syndrome [RCV000696440]|not provided [RCV002275146] | pathogenic|likely pathogenic | 15 | 48463898 | 48463898 | Human | 1 | name |
| 13706699 | CV538056 | single nucleotide variant | NM_000138.5(FBN1):c.4943-1G>A | Marfan syndrome [RCV000659547] | likely pathogenic | 15 | 48464022 | 48464022 | Human | 1 | name |
| 13703859 | CV539524 | single nucleotide variant | NM_000138.5(FBN1):c.7699+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002397348]|Marfan syndrome [RCV000663968]|Marfan syndrome [RCV001386158] | pathogenic|likely pathogenic | 15 | 48421557 | 48421557 | Human | 3 | name |
| 13703822 | CV539542 | single nucleotide variant | NM_000138.5(FBN1):c.7331-1G>C | Marfan syndrome [RCV000663946] | likely pathogenic | 15 | 48425492 | 48425492 | Human | 1 | name |
| 13703807 | CV539549 | single nucleotide variant | NM_000138.5(FBN1):c.7204+2T>C | Marfan syndrome [RCV000663937] | likely pathogenic | 15 | 48427565 | 48427565 | Human | 1 | name |
| 13703805 | CV539550 | single nucleotide variant | NM_000138.5(FBN1):c.7204+1G>T | Marfan syndrome [RCV000663936]|Marfan syndrome [RCV001381120] | pathogenic|likely pathogenic | 15 | 48427566 | 48427566 | Human | 1 | name |
| 13703748 | CV539580 | deletion | NM_000138.5(FBN1):c.6740-2del | Familial thoracic aortic aneurysm and aortic dissection [RCV001170303]|Marfan syndrome [RCV000663895]|Marfan syndrome [RCV001861733] | pathogenic|likely pathogenic | 15 | 48430804 | 48430804 | Human | 3 | name |
| 13703722 | CV539593 | single nucleotide variant | NM_000138.5(FBN1):c.6496+5G>C | Marfan syndrome [RCV000663874] | uncertain significance | 15 | 48436956 | 48436956 | Human | 1 | name |
| 13703720 | CV539594 | single nucleotide variant | NM_000138.5(FBN1):c.6496+2T>G | Marfan syndrome [RCV000663873] | pathogenic | 15 | 48436959 | 48436959 | Human | 1 | name |
| 13703717 | CV539595 | single nucleotide variant | NM_000138.5(FBN1):c.6496+1G>A | Marfan syndrome [RCV000663872]|Marfan syndrome [RCV002530614] | pathogenic|likely pathogenic | 15 | 48436960 | 48436960 | Human | 1 | name |
| 13703689 | CV539607 | single nucleotide variant | NM_000138.5(FBN1):c.6164-1G>C | Marfan syndrome [RCV000663851] | likely pathogenic | 15 | 48437918 | 48437918 | Human | 1 | name |
| 13703667 | CV539621 | single nucleotide variant | NM_000138.5(FBN1):c.5917+5G>T | Marfan syndrome [RCV000663833] | uncertain significance | 15 | 48445371 | 48445371 | Human | 1 | name |
| 13703665 | CV539622 | single nucleotide variant | NM_000138.5(FBN1):c.5917+3A>C | Marfan syndrome [RCV000663832] | uncertain significance | 15 | 48445373 | 48445373 | Human | 1 | name |
| 13703640 | CV539633 | single nucleotide variant | NM_000138.5(FBN1):c.5788+1G>T | Marfan syndrome [RCV000663818]|not provided [RCV001662733] | pathogenic|likely pathogenic | 15 | 48446705 | 48446705 | Human | 1 | name |
| 13703623 | CV539642 | single nucleotide variant | NM_000138.5(FBN1):c.5672-1G>A | Marfan syndrome [RCV000663805]|Marfan syndrome [RCV001855419] | pathogenic|likely pathogenic | 15 | 48446823 | 48446823 | Human | 1 | name |
| 13703621 | CV539643 | single nucleotide variant | NM_000138.5(FBN1):c.5671+7A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001798956]|Marfan syndrome [RCV000663804]|Marfan syndrome [RCV003767934] | likely benign|uncertain significance | 15 | 48448761 | 48448761 | Human | 3 | name |
| 13703611 | CV539649 | single nucleotide variant | NM_000138.5(FBN1):c.5545+1G>A | Marfan syndrome [RCV000663797]|Marfan syndrome [RCV001868189] | likely pathogenic | 15 | 48452561 | 48452561 | Human | 1 | name |
| 13703577 | CV539664 | single nucleotide variant | NM_000138.5(FBN1):c.5297-1G>A | Marfan syndrome [RCV000663774] | pathogenic | 15 | 48456763 | 48456763 | Human | 1 | name |
| 13703575 | CV539665 | single nucleotide variant | NM_000138.5(FBN1):c.5296+1G>C | Marfan syndrome [RCV000663772] | likely pathogenic | 15 | 48460245 | 48460245 | Human | 1 | name |
| 13703571 | CV539668 | single nucleotide variant | NM_000138.5(FBN1):c.5225-2A>C | Marfan syndrome [RCV000663770] | likely pathogenic | 15 | 48460319 | 48460319 | Human | 1 | name |
| 13703534 | CV539684 | single nucleotide variant | NM_000138.5(FBN1):c.4748-3T>G | Marfan syndrome [RCV000663743] | uncertain significance | 15 | 48465861 | 48465861 | Human | 1 | name |
| 13703529 | CV539687 | single nucleotide variant | NM_000138.5(FBN1):c.4583-1G>A | Marfan syndrome [RCV000663740] | likely pathogenic | 15 | 48468103 | 48468103 | Human | 1 | name |
| 13703527 | CV539688 | single nucleotide variant | NM_000138.5(FBN1):c.4582+2T>G | Marfan syndrome [RCV000663738] | pathogenic | 15 | 48468410 | 48468410 | Human | 1 | name |
| 13703515 | CV539696 | single nucleotide variant | NM_000138.5(FBN1):c.4460-1G>C | Marfan syndrome [RCV000663729] | likely pathogenic | 15 | 48468535 | 48468535 | Human | 1 | name |
| 13706254 | CV539705 | single nucleotide variant | NM_000138.5(FBN1):c.4337-1G>T | Marfan syndrome [RCV000663717]|Marfan syndrome [RCV001868186] | pathogenic|likely pathogenic | 15 | 48470757 | 48470757 | Human | 1 | name |
| 13703472 | CV539718 | single nucleotide variant | NM_000138.5(FBN1):c.4087+5G>A | Marfan syndrome [RCV000663693] | likely pathogenic | 15 | 48474523 | 48474523 | Human | 1 | name |
| 13703435 | CV539734 | single nucleotide variant | NM_000138.5(FBN1):c.3838+3A>T | Marfan syndrome [RCV000663668] | uncertain significance | 15 | 48483815 | 48483815 | Human | 1 | name |
| 13703415 | CV539746 | single nucleotide variant | NM_000138.5(FBN1):c.3589+1G>T | Marfan syndrome [RCV000663653] | pathogenic | 15 | 48487074 | 48487074 | Human | 1 | name |
| 13703350 | CV539780 | single nucleotide variant | NM_000138.5(FBN1):c.3209-7T>A | Marfan syndrome [RCV000663612] | uncertain significance | 15 | 48488248 | 48488248 | Human | 1 | name |
| 13703348 | CV539781 | single nucleotide variant | NM_000138.5(FBN1):c.3208+5G>A | Marfan syndrome [RCV000663611] | uncertain significance | 15 | 48488363 | 48488363 | Human | 1 | name |
| 13703330 | CV539791 | single nucleotide variant | NM_000138.5(FBN1):c.3082+9T>G | Marfan syndrome [RCV000663601] | uncertain significance | 15 | 48489842 | 48489842 | Human | 1 | name |
| 13703283 | CV539814 | single nucleotide variant | NM_000138.5(FBN1):c.2678-2A>G | Marfan syndrome [RCV000663569]|Marfan syndrome [RCV003767931] | pathogenic|likely pathogenic | 15 | 48494256 | 48494256 | Human | 1 | name |
| 13703284 | CV539815 | single nucleotide variant | NM_000138.5(FBN1):c.2678-6T>G | Marfan syndrome [RCV000663570] | uncertain significance | 15 | 48494260 | 48494260 | Human | 1 | name |
| 13703252 | CV539834 | single nucleotide variant | NM_000138.5(FBN1):c.2420-1G>T | Marfan syndrome [RCV000663536] | likely pathogenic | 15 | 48495589 | 48495589 | Human | 1 | name |
| 13703238 | CV539846 | single nucleotide variant | NM_000138.5(FBN1):c.2114-1G>C | Marfan syndrome [RCV000663517] | pathogenic | 15 | 48499039 | 48499039 | Human | 1 | name |
| 13703231 | CV539850 | single nucleotide variant | NM_000138.5(FBN1):c.1960+2T>C | Marfan syndrome [RCV000663508] | likely pathogenic | 15 | 48505023 | 48505023 | Human | 1 | name |
| 13703230 | CV539851 | single nucleotide variant | NM_000138.5(FBN1):c.1960+1G>C | Marfan syndrome [RCV000663507] | pathogenic | 15 | 48505024 | 48505024 | Human | 1 | name |
| 13703226 | CV539855 | single nucleotide variant | NM_000138.5(FBN1):c.1838-1G>A | Marfan syndrome [RCV000663501] | likely pathogenic | 15 | 48505148 | 48505148 | Human | 1 | name |
| 13703225 | CV539856 | single nucleotide variant | NM_000138.5(FBN1):c.1837+2T>C | Marfan syndrome [RCV000663499] | pathogenic | 15 | 48508580 | 48508580 | Human | 1 | name |
| 13703224 | CV539857 | single nucleotide variant | NM_000138.5(FBN1):c.1837+1G>A | Marfan syndrome [RCV000663498]|not provided [RCV004702269] | pathogenic|likely pathogenic | 15 | 48508581 | 48508581 | Human | 1 | name |
| 13703210 | CV539870 | single nucleotide variant | NM_000138.5(FBN1):c.1715-1G>A | Marfan syndrome [RCV000663484] | pathogenic | 15 | 48508705 | 48508705 | Human | 1 | name |
| 13703186 | CV539893 | single nucleotide variant | NM_000138.5(FBN1):c.1328-9T>A | Marfan syndrome [RCV000663451] | uncertain significance | 15 | 48515536 | 48515536 | Human | 1 | name |
| 13781934 | CV539957 | single nucleotide variant | NM_000138.5(FBN1):c.1589-5T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001524955]|Marfan syndrome [RCV000663434]|Marfan syndrome [RCV003767925]|not provided [RCV003144463] | likely benign|uncertain significance | 15 | 48510174 | 48510174 | Human | 3 | name |
| 13804126 | CV567124 | single nucleotide variant | NM_000138.5(FBN1):c.7204+1G>A | Marfan syndrome [RCV000688065]|Marfan syndrome [RCV002250681] | pathogenic|likely pathogenic | 15 | 48427566 | 48427566 | Human | 1 | name |
| 13804025 | CV567133 | single nucleotide variant | NM_000138.5(FBN1):c.6163+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV005401568]|Marfan syndrome [RCV000685123]|Marfan syndrome [RCV004004228] | likely pathogenic | 15 | 48441720 | 48441720 | Human | 3 | name |
| 13804270 | CV567138 | single nucleotide variant | NM_000138.5(FBN1):c.5296+5G>C | Marfan syndrome [RCV000693204] | pathogenic | 15 | 48460241 | 48460241 | Human | 1 | name |
| 13804223 | CV567140 | single nucleotide variant | NM_000138.5(FBN1):c.4942+1G>A | Marfan syndrome [RCV000691701] | pathogenic | 15 | 48465567 | 48465567 | Human | 1 | name |
| 13804512 | CV568918 | single nucleotide variant | NM_000138.5(FBN1):c.6740-3C>G | Marfan syndrome [RCV000703338] | likely pathogenic | 15 | 48430805 | 48430805 | Human | 1 | name |
| 13804350 | CV568953 | deletion | NM_000138.5(FBN1):c.3337+1del | Marfan syndrome [RCV000696044] | pathogenic | 15 | 48488112 | 48488112 | Human | 1 | name |
| 13804107 | CV569428 | single nucleotide variant | NM_000138.5(FBN1):c.7571-1G>A | Marfan syndrome [RCV000687633]|Marfan syndrome [RCV004017716] | likely pathogenic | 15 | 48421687 | 48421687 | Human | 1 | name |
| 13804262 | CV569491 | single nucleotide variant | NM_000138.5(FBN1):c.4088-5A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV003528218]|Marfan syndrome [RCV000692760]|Marfan syndrome [RCV004802370] | likely benign|uncertain significance | 15 | 48474382 | 48474382 | Human | 3 | name |
| 13804529 | CV569516 | single nucleotide variant | NM_000138.5(FBN1):c.2113+1G>T | Marfan syndrome [RCV000704604]|Marfan syndrome [RCV005001105] | pathogenic|likely pathogenic | 15 | 48503786 | 48503786 | Human | 1 | name |
| 13804113 | CV573340 | single nucleotide variant | NM_000138.5(FBN1):c.5918-1G>C | Marfan syndrome [RCV000687707] | pathogenic | 15 | 48444661 | 48444661 | Human | 1 | name |
| 13804476 | CV573341 | single nucleotide variant | NM_000138.5(FBN1):c.5788+6T>G | Marfan syndrome [RCV000700218] | pathogenic|likely pathogenic | 15 | 48446700 | 48446700 | Human | 1 | name |
| 13804393 | CV573349 | deletion | NM_000138.5(FBN1):c.5545+1del | Marfan syndrome [RCV000697693] | likely pathogenic | 15 | 48452561 | 48452561 | Human | 1 | name |
| 13804139 | CV573368 | single nucleotide variant | NM_000138.5(FBN1):c.2113+1G>C | Marfan syndrome [RCV000688462]|Marfan syndrome [RCV000984050]|not provided [RCV002286778] | pathogenic | 15 | 48503786 | 48503786 | Human | 1 | name |
| 13804611 | CV573369 | single nucleotide variant | NM_000138.5(FBN1):c.2113+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV002422614]|Marfan syndrome [RCV000707068] | pathogenic | 15 | 48503786 | 48503786 | Human | 3 | name |
| 14398921 | CV613478 | single nucleotide variant | NM_000138.5(FBN1):c.5066-1G>A | Marfan syndrome [RCV000766249]|Marfan syndrome [RCV000792068] | pathogenic | 15 | 48463241 | 48463241 | Human | 1 | name |
| 14399137 | CV614398 | single nucleotide variant | NM_000138.5(FBN1):c.5546-1G>A | Ectopia lentis 1, isolated, autosomal dominant [RCV000768214]|Marfan syndrome [RCV003768307] | pathogenic|likely pathogenic | 15 | 48448894 | 48448894 | Human | 2 | name |
| 14688704 | CV615224 | single nucleotide variant | NM_000138.5(FBN1):c.5546-4A>C | Familial thoracic aortic aneurysm and aortic dissection [RCV000769635]|Marfan syndrome [RCV001504531]|Marfan syndrome [RCV003999929]|not provided [RCV003144582] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48448897 | 48448897 | Human | 3 | name |
| 14688712 | CV615225 | single nucleotide variant | NM_000138.5(FBN1):c.5423-2A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV000769640]|Marfan syndrome [RCV004782539]|not provided [RCV004783850] | pathogenic|likely pathogenic | 15 | 48452686 | 48452686 | Human | 3 | name |
| 14688718 | CV615226 | single nucleotide variant | NM_000138.5(FBN1):c.2539+1G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV000769648] | likely pathogenic | 15 | 48495468 | 48495468 | Human | 1 | name |
| 14692424 | CV619447 | single nucleotide variant | NM_000138.5(FBN1):c.1589-8G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV000773869]|Marfan syndrome [RCV002534100]|Marfan syndrome [RCV004001334] | likely benign | 15 | 48510177 | 48510177 | Human | 3 | name |
| 14692522 | CV619506 | duplication | NM_000138.5(FBN1):c.4337-4dup | Familial thoracic aortic aneurysm and aortic dissection [RCV000774006]|Marfan syndrome [RCV002061082] | likely benign | 15 | 48470759 | 48470760 | Human | 3 | name |
| 14691435 | CV619580 | single nucleotide variant | NM_000138.5(FBN1):c.7204+6T>G | Familial thoracic aortic aneurysm and aortic dissection [RCV000771284]|Marfan syndrome [RCV000866303] | likely benign | 15 | 48427561 | 48427561 | Human | 3 | name |
| 14692618 | CV619595 | deletion | NM_000138.5(FBN1):c.2729-9del | Familial thoracic aortic aneurysm and aortic dissection [RCV000774167]|Marfan syndrome [RCV000863092] | benign|likely benign | 15 | 48492595 | 48492595 | Human | 3 | name |
| 14696545 | CV622211 | single nucleotide variant | NM_000138.5(FBN1):c.7570+5G>A | Marfan syndrome [RCV000782352] | pathogenic | 15 | 48421947 | 48421947 | Human | 1 | name |
| 14699451 | CV624802 | single nucleotide variant | NM_000138.5(FBN1):c.1589-9T>A | not provided [RCV000788818] | pathogenic | 15 | 48510178 | 48510178 | Human | | name |
| 14723175 | CV652418 | single nucleotide variant | NM_000138.5(FBN1):c.5918-1G>A | Marfan syndrome [RCV000797856] | pathogenic | 15 | 48444661 | 48444661 | Human | 1 | name |
| 14706852 | CV652748 | single nucleotide variant | NM_000138.5(FBN1):c.6617-2A>C | Marfan syndrome [RCV000792125] | pathogenic|likely pathogenic | 15 | 48432990 | 48432990 | Human | 1 | name |
| 14702613 | CV652753 | single nucleotide variant | NM_000138.5(FBN1):c.1147+3A>C | Marfan syndrome [RCV000807043] | uncertain significance | 15 | 48520656 | 48520656 | Human | 1 | name |
| 14708600 | CV653045 | single nucleotide variant | NM_000138.5(FBN1):c.6871+1G>A | Marfan syndrome [RCV000809123] | pathogenic | 15 | 48430670 | 48430670 | Human | 1 | name |
| 14734445 | CV653049 | single nucleotide variant | NM_000138.5(FBN1):c.5671+1G>T | Marfan syndrome [RCV000802742] | pathogenic | 15 | 48448767 | 48448767 | Human | 1 | name |
| 14729661 | CV667810 | single nucleotide variant | NM_000138.5(FBN1):c.442+89G>A | not provided [RCV000835323] | likely benign | 15 | 48600050 | 48600050 | Human | | name |
| 14726569 | CV667815 | single nucleotide variant | NM_000138.5(FBN1):c.248-44G>A | not provided [RCV000833928] | likely benign | 15 | 48610870 | 48610870 | Human | | name |
| 15173417 | CV672195 | single nucleotide variant | NM_000138.5(FBN1):c.6872-1G>T | Marfan syndrome [RCV000984074]|Marfan syndrome [RCV002536159] | pathogenic | 15 | 48428472 | 48428472 | Human | 1 | name |
| 15173414 | CV672196 | single nucleotide variant | NM_000138.5(FBN1):c.6740-1G>T | Marfan syndrome [RCV000984072] | pathogenic | 15 | 48430803 | 48430803 | Human | 1 | name |
| 15173411 | CV672197 | deletion | NM_000138.5(FBN1):c.6496+1del | Marfan syndrome [RCV000984069] | pathogenic | 15 | 48436960 | 48436960 | Human | 1 | name |
| 15173410 | CV672198 | single nucleotide variant | NM_000138.5(FBN1):c.6380-1G>T | Marfan syndrome [RCV000984068] | pathogenic | 15 | 48437078 | 48437078 | Human | 1 | name |
| 15173387 | CV672199 | single nucleotide variant | NM_000138.5(FBN1):c.2539+2T>G | Marfan syndrome [RCV000984053] | pathogenic | 15 | 48495467 | 48495467 | Human | 1 | name |
| 15173386 | CV672200 | single nucleotide variant | NM_000138.5(FBN1):c.2419+2T>G | Marfan syndrome [RCV000984052]|not provided [RCV004721644] | pathogenic | 15 | 48496098 | 48496098 | Human | 1 | name |
| 14975432 | CV672463 | single nucleotide variant | NM_000138.5(FBN1):c.2114-2A>G | not provided [RCV000845431] | likely pathogenic | 15 | 48499040 | 48499040 | Human | | name |
| 15136747 | CV690107 | single nucleotide variant | NM_000138.5(FBN1):c.7570+9G>A | Marfan syndrome [RCV000864545] | likely benign | 15 | 48421943 | 48421943 | Human | 1 | name |
| 15097636 | CV690108 | single nucleotide variant | NM_000138.5(FBN1):c.4748-6C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001524447]|Marfan syndrome [RCV001455898]|not specified [RCV005405367] | likely benign | 15 | 48465864 | 48465864 | Human | 3 | name |
| 15108253 | CV695648 | single nucleotide variant | NM_000138.5(FBN1):c.4337-5C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001183004]|Marfan syndrome [RCV000871660]|Marfan syndrome [RCV004003074] | likely benign|conflicting interpretations of pathogenicity | 15 | 48470761 | 48470761 | Human | 3 | name |
| 15115694 | CV695649 | single nucleotide variant | NM_000138.5(FBN1):c.2419+7C>T | Marfan syndrome [RCV001459033] | likely benign | 15 | 48496093 | 48496093 | Human | 1 | name |
| 15198379 | CV776009 | single nucleotide variant | NM_000138.5(FBN1):c.3209-6G>A | Marfan syndrome [RCV001504178] | likely benign | 15 | 48488247 | 48488247 | Human | 1 | name |
| 15121284 | CV776080 | single nucleotide variant | NM_000138.5(FBN1):c.7331-5C>T | not provided [RCV000940493] | likely benign | 15 | 48425496 | 48425496 | Human | | name |
| 15192704 | CV776176 | single nucleotide variant | NM_000138.5(FBN1):c.6871+7G>C | Marfan syndrome [RCV001414947] | likely benign | 15 | 48430664 | 48430664 | Human | 1 | name |
| 15117352 | CV776376 | single nucleotide variant | NM_000138.5(FBN1):c.7700-9C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001187190]|Marfan syndrome [RCV001505943] | likely benign | 15 | 48420815 | 48420815 | Human | 3 | name |
| 15191720 | CV776378 | single nucleotide variant | NM_000138.5(FBN1):c.1588+9C>G | Marfan syndrome [RCV001396751] | likely benign | 15 | 48513540 | 48513540 | Human | 1 | name |
| 15153208 | CV778159 | single nucleotide variant | NM_000138.5(FBN1):c.6616+8T>A | FBN1-related disorder [RCV004543547]|Marfan syndrome [RCV001413045] | likely benign | 15 | 48434586 | 48434586 | Human | 3 | name |
| 15158412 | CV779942 | single nucleotide variant | NM_000138.5(FBN1):c.3082+9T>C | Marfan syndrome [RCV001425161]|not specified [RCV002307646] | likely benign|uncertain significance | 15 | 48489842 | 48489842 | Human | 1 | name |
| 21072658 | CV791457 | single nucleotide variant | NM_000138.5(FBN1):c.7820-1G>C | Marfan syndrome [RCV000989311] | pathogenic | 15 | 48415768 | 48415768 | Human | 1 | name |
| 21406110 | CV799807 | single nucleotide variant | NM_000138.5(FBN1):c.4816+2T>C | Marfan syndrome [RCV001071745]|Marfan syndrome [RCV004004469]|not provided [RCV002225780]|not specified [RCV001002000] | pathogenic|likely pathogenic | 15 | 48465788 | 48465788 | Human | 1 | name |
| 21406122 | CV799808 | single nucleotide variant | NM_000138.5(FBN1):c.4582+3A>T | Marfan syndrome [RCV001860508]|not specified [RCV001002028] | uncertain significance | 15 | 48468409 | 48468409 | Human | 1 | name |
| 21405907 | CV799812 | single nucleotide variant | NM_000138.5(FBN1):c.443-35A>G | not provided [RCV001563220]|not specified [RCV001001396] | benign|likely benign | 15 | 48596413 | 48596413 | Human | | name |
| 25318972 | CV816508 | single nucleotide variant | NM_000138.5(FBN1):c.5917+1G>T | Marfan syndrome [RCV001028009]|Marfan syndrome [RCV001862419] | pathogenic|likely pathogenic | 15 | 48445375 | 48445375 | Human | 1 | name |
| 26904983 | CV851619 | single nucleotide variant | NM_000138.5(FBN1):c.6997+1G>C | Marfan syndrome [RCV001056683] | pathogenic | 15 | 48428345 | 48428345 | Human | 1 | name |
| 26901594 | CV851621 | single nucleotide variant | NM_000138.5(FBN1):c.6379+3C>G | Marfan syndrome [RCV001043862] | uncertain significance | 15 | 48437319 | 48437319 | Human | 1 | name |
| 26902268 | CV851623 | single nucleotide variant | NM_000138.5(FBN1):c.6037+2T>C | Marfan syndrome [RCV001046461] | pathogenic | 15 | 48444539 | 48444539 | Human | 1 | name |
| 26900053 | CV851625 | single nucleotide variant | NM_000138.5(FBN1):c.3463+1G>A | Marfan syndrome [RCV001038405] | pathogenic | 15 | 48487311 | 48487311 | Human | 1 | name |
| 26906406 | CV851627 | single nucleotide variant | NM_000138.5(FBN1):c.2854+2T>C | Marfan syndrome [RCV001063264] | pathogenic|likely pathogenic | 15 | 48492459 | 48492459 | Human | 1 | name |
| 26899933 | CV852043 | single nucleotide variant | NM_000138.5(FBN1):c.7571-7C>A | Marfan syndrome [RCV001037872]|not provided [RCV001644907] | likely benign|uncertain significance | 15 | 48421693 | 48421693 | Human | 1 | name |
| 26907697 | CV852047 | single nucleotide variant | NM_000138.5(FBN1):c.6496+1G>T | Marfan syndrome [RCV001070812] | pathogenic | 15 | 48436960 | 48436960 | Human | 1 | name |
| 26901167 | CV852049 | single nucleotide variant | NM_000138.5(FBN1):c.6038-3T>C | Marfan syndrome [RCV001042090] | uncertain significance | 15 | 48441849 | 48441849 | Human | 1 | name |
| 26902851 | CV852051 | single nucleotide variant | NM_000138.5(FBN1):c.5671+1G>A | Marfan syndrome [RCV001047998] | pathogenic | 15 | 48448767 | 48448767 | Human | 1 | name |
| 26906419 | CV852053 | single nucleotide variant | NM_000138.5(FBN1):c.5545+2T>C | Marfan syndrome [RCV001063283] | likely pathogenic | 15 | 48452560 | 48452560 | Human | 1 | name |
| 26904152 | CV852055 | single nucleotide variant | NM_000138.5(FBN1):c.5065+1G>A | Marfan syndrome [RCV001052451]|not provided [RCV004697034] | pathogenic | 15 | 48463898 | 48463898 | Human | 1 | name |
| 26906861 | CV852057 | single nucleotide variant | NM_000138.5(FBN1):c.3590-2A>G | Marfan syndrome [RCV001065637] | likely pathogenic | 15 | 48485498 | 48485498 | Human | 1 | name |
| 26902296 | CV852059 | single nucleotide variant | NM_000138.5(FBN1):c.3209-2A>C | Marfan syndrome [RCV001046550]|Marfan syndrome [RCV004796355] | likely pathogenic | 15 | 48488243 | 48488243 | Human | 1 | name |
| 26902965 | CV852061 | single nucleotide variant | NM_000138.5(FBN1):c.1714+5T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001805995]|Marfan syndrome [RCV001048246]|not specified [RCV001824920] | uncertain significance | 15 | 48510039 | 48510039 | Human | 3 | name |
| 26906160 | CV852592 | single nucleotide variant | NM_000138.5(FBN1):c.7454-2A>G | Marfan syndrome [RCV001061616] | pathogenic | 15 | 48422070 | 48422070 | Human | 1 | name |
| 26899922 | CV852596 | single nucleotide variant | NM_000138.5(FBN1):c.7205-1G>C | Marfan syndrome [RCV001037801] | pathogenic | 15 | 48425865 | 48425865 | Human | 1 | name |
| 26899379 | CV852598 | single nucleotide variant | NM_000138.5(FBN1):c.3083-2A>C | Marfan syndrome [RCV001035768] | pathogenic | 15 | 48488495 | 48488495 | Human | 1 | name |
| 26903424 | CV852599 | single nucleotide variant | NM_000138.5(FBN1):c.1468+2T>G | Marfan syndrome [RCV001049728] | pathogenic | 15 | 48515385 | 48515385 | Human | 1 | name |
| 26901639 | CV852767 | single nucleotide variant | NM_000138.5(FBN1):c.6997+1G>A | Marfan syndrome [RCV001043974]|Marfan syndrome [RCV002246013] | pathogenic|likely pathogenic | 15 | 48428345 | 48428345 | Human | 1 | name |
| 26903336 | CV852768 | single nucleotide variant | NM_000138.5(FBN1):c.6872-3C>G | Marfan syndrome [RCV001049415] | pathogenic|uncertain significance | 15 | 48428474 | 48428474 | Human | 1 | name |
| 26904673 | CV852771 | single nucleotide variant | NM_000138.5(FBN1):c.4582+1G>A | Marfan syndrome [RCV001055191]|Marfan syndrome [RCV002246014] | pathogenic|likely pathogenic | 15 | 48468411 | 48468411 | Human | 1 | name |
| 26906995 | CV852775 | single nucleotide variant | NM_000138.5(FBN1):c.2539+1G>C | Marfan syndrome [RCV001066459] | pathogenic | 15 | 48495468 | 48495468 | Human | 1 | name |
| 26899346 | CV852777 | single nucleotide variant | NM_000138.5(FBN1):c.1715-2A>G | Marfan syndrome [RCV001035658]|not provided [RCV001508389] | pathogenic|likely pathogenic | 15 | 48508706 | 48508706 | Human | 1 | name |
| 28875559 | CV876534 | single nucleotide variant | NM_000138.5(FBN1):c.6379+4A>G | Acromicric dysplasia [RCV001117417]|Ectopia lentis 1, isolated, autosomal dominant [RCV001117418]|Familial thoracic aortic aneurysm and aortic dissection [RCV001115962]|Geleophysic dysplasia [RCV001115963]|Marfan syndrome [RCV001117416]|Marfan syndrome [RCV002556286]|Stiff skin syndrome [RCV00111741 9]|Weill-Marchesani syndrome [RCV001115961]|not provided [RCV003393851] | benign|likely benign | 15 | 48437318 | 48437318 | Human | 8 | name |
| 28886989 | CV876535 | single nucleotide variant | NM_000138.5(FBN1):c.3712+9G>T | Acromicric dysplasia [RCV001121495]|Ectopia lentis 1, isolated, autosomal dominant [RCV001119496]|Familial thoracic aortic aneurysm and aortic dissection [RCV001119494]|Geleophysic dysplasia [RCV001119497]|Marfan syndrome [RCV001119493]|Marfan syndrome [RCV002069940]|Stiff skin syndrome [RCV00111949 5]|Weill-Marchesani syndrome [RCV001119498] | benign|likely benign|uncertain significance | 15 | 48485365 | 48485365 | Human | 8 | name |
| 28884740 | CV876536 | single nucleotide variant | NM_000138.5(FBN1):c.443-15C>A | Acromicric dysplasia [RCV001118833]|Ectopia lentis 1, isolated, autosomal dominant [RCV001118834]|Familial thoracic aortic aneurysm and aortic dissection [RCV001120794]|Marfan syndrome [RCV001120795]|Stiff skin syndrome [RCV001120792]|Weill-Marchesani syndrome [RCV001120793] | uncertain significance | 15 | 48596393 | 48596393 | Human | 7 | name |
| 28893754 | CV904059 | single nucleotide variant | NM_000138.5(FBN1):c.5789-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001170535]|Marfan syndrome [RCV002558711] | pathogenic|likely pathogenic | 15 | 48445505 | 48445505 | Human | 3 | name |
| 28898200 | CV904060 | single nucleotide variant | NM_000138.5(FBN1):c.1961-1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001171258]|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV001251260]|Marfan syndrome [RCV001873580] | pathogenic|likely pathogenic | 15 | 48503940 | 48503940 | Human | 4 | name |
| 34896580 | CV915834 | single nucleotide variant | NM_000138.5(FBN1):c.7571-5C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001178518] | likely benign | 15 | 48421691 | 48421691 | Human | 1 | name |
| 34892176 | CV915836 | single nucleotide variant | NM_000138.5(FBN1):c.7454-4G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001182903]|Marfan syndrome [RCV002559815] | likely benign|uncertain significance | 15 | 48422072 | 48422072 | Human | 3 | name |
| 34896790 | CV915840 | single nucleotide variant | NM_000138.5(FBN1):c.7330+5G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001185918]|Marfan syndrome [RCV001862925]|not provided [RCV001553303] | uncertain significance | 15 | 48425734 | 48425734 | Human | 3 | name |
| 34897386 | CV915842 | single nucleotide variant | NM_000138.5(FBN1):c.6740-9T>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001186422] | uncertain significance | 15 | 48430811 | 48430811 | Human | 1 | name |
| 34892998 | CV915844 | single nucleotide variant | NM_000138.5(FBN1):c.6616+3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001176207] | uncertain significance | 15 | 48434591 | 48434591 | Human | 1 | name |
| 34897373 | CV915852 | single nucleotide variant | NM_000138.5(FBN1):c.6038-4T>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001186407] | uncertain significance | 15 | 48441850 | 48441850 | Human | 1 | name |
| 34897399 | CV915858 | single nucleotide variant | NM_000138.5(FBN1):c.4943-3T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001186434]|Marfan syndrome [RCV001859117]|Marfan syndrome [RCV004008604]|not specified [RCV001201310] | likely benign|uncertain significance | 15 | 48464024 | 48464024 | Human | 3 | name |
| 34897076 | CV915860 | single nucleotide variant | NM_000138.5(FBN1):c.4337-7C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001178876]|Marfan syndrome [RCV004006509] | likely benign | 15 | 48470763 | 48470763 | Human | 3 | name |
| 34900258 | CV915862 | single nucleotide variant | NM_000138.5(FBN1):c.4337-9C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001189768] | likely benign | 15 | 48470765 | 48470765 | Human | 1 | name |
| 34901261 | CV915867 | single nucleotide variant | NM_000138.5(FBN1):c.4336+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001191437] | likely benign | 15 | 48472547 | 48472547 | Human | 1 | name |
| 34893676 | CV915871 | single nucleotide variant | NM_000138.5(FBN1):c.3713-3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001176734] | likely benign | 15 | 48483946 | 48483946 | Human | 1 | name |
| 34898614 | CV915873 | single nucleotide variant | NM_000138.5(FBN1):c.3209-9T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001180140]|Marfan syndrome [RCV003769958]|not specified [RCV005236662] | likely benign | 15 | 48488250 | 48488250 | Human | 3 | name |
| 34894309 | CV915875 | single nucleotide variant | NM_000138.5(FBN1):c.2855-4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001184509]|Marfan syndrome [RCV001415650]|not provided [RCV005256746] | likely benign | 15 | 48490082 | 48490082 | Human | 3 | name |
| 34901237 | CV916277 | single nucleotide variant | NM_000138.5(FBN1):c.6617-7G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001191407] | likely benign | 15 | 48432995 | 48432995 | Human | 1 | name |
| 34889143 | CV916297 | single nucleotide variant | NM_000138.5(FBN1):c.5065+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001181276]|Marfan syndrome [RCV005225270]|not provided [RCV002223999] | uncertain significance | 15 | 48463895 | 48463895 | Human | 3 | name |
| 34899410 | CV916298 | single nucleotide variant | NM_000138.5(FBN1):c.4817-5G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001188301] | likely benign | 15 | 48465698 | 48465698 | Human | 1 | name |
| 34892589 | CV916304 | single nucleotide variant | NM_000138.5(FBN1):c.4088-6T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001175875] | likely benign | 15 | 48474383 | 48474383 | Human | 1 | name |
| 34898372 | CV916305 | single nucleotide variant | NM_000138.5(FBN1):c.8226+3G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001187186] | likely benign | 15 | 48412566 | 48412566 | Human | 1 | name |
| 34896914 | CV916307 | single nucleotide variant | NM_000138.5(FBN1):c.4747+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001186014]|Marfan syndrome [RCV004008571] | uncertain significance | 15 | 48467934 | 48467934 | Human | 3 | name |
| 34893457 | CV916309 | single nucleotide variant | NM_000138.5(FBN1):c.4582+3A>G | Ectopia lentis 1, isolated, autosomal dominant [RCV002483954]|FBN1-related disorder [RCV004538403]|Familial thoracic aortic aneurysm and aortic dissection [RCV001176553]|Marfan syndrome [RCV002559695]|Marfan syndrome [RCV004006307]|See cases [RCV002252324] | likely benign|uncertain significance | 15 | 48468409 | 48468409 | Human | 10 | name |
| 34898408 | CV916314 | single nucleotide variant | NM_000138.5(FBN1):c.1838-7G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001179964]|Marfan syndrome [RCV003769956] | likely benign | 15 | 48505154 | 48505154 | Human | 3 | name |
| 34894746 | CV916316 | single nucleotide variant | NM_000138.5(FBN1):c.4211-8G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001177556]|Marfan syndrome [RCV001398169] | likely benign | 15 | 48472684 | 48472684 | Human | 3 | name |
| 34893388 | CV916330 | single nucleotide variant | NM_000138.5(FBN1):c.2540-7T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001176478]|Marfan syndrome [RCV002068169] | likely benign | 15 | 48495267 | 48495267 | Human | 3 | name |
| 34894067 | CV916332 | single nucleotide variant | NM_000138.5(FBN1):c.2168-3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001184360] | likely benign | 15 | 48497394 | 48497394 | Human | 1 | name |
| 34896874 | CV916341 | single nucleotide variant | NM_000138.5(FBN1):c.165-13G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001178699]|Marfan syndrome [RCV003769933] | likely benign | 15 | 48613105 | 48613105 | Human | 3 | name |
| 34900019 | CV916546 | single nucleotide variant | NM_000138.5(FBN1):c.7570+3G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001189319] | uncertain significance | 15 | 48421949 | 48421949 | Human | 1 | name |
| 34892657 | CV916548 | single nucleotide variant | NM_000138.5(FBN1):c.7330+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001183248]|Marfan syndrome [RCV001421076] | benign|likely benign | 15 | 48425735 | 48425735 | Human | 3 | name |
| 34894540 | CV916559 | single nucleotide variant | NM_000138.5(FBN1):c.6616+5A>G | FBN1-related disorder [RCV004538405]|Familial thoracic aortic aneurysm and aortic dissection [RCV001177390]|Marfan syndrome [RCV001875845] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48434589 | 48434589 | Human | 3 | name |
| 34901191 | CV916561 | single nucleotide variant | NM_000138.5(FBN1):c.6380-3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001191294]|Marfan syndrome [RCV001351678]|not provided [RCV001587212]|not specified [RCV001192953] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 48437080 | 48437080 | Human | 3 | name |
| 34892543 | CV916567 | single nucleotide variant | NM_000138.5(FBN1):c.5422+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001183162] | uncertain significance | 15 | 48456633 | 48456633 | Human | 1 | name |
| 34888705 | CV916571 | single nucleotide variant | NM_000138.5(FBN1):c.5297-4C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001180911] | likely benign | 15 | 48456766 | 48456766 | Human | 1 | name |
| 34889539 | CV916581 | single nucleotide variant | NM_000138.5(FBN1):c.5065+5G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001181501]|Marfan syndrome [RCV004803480]|not provided [RCV001751324] | uncertain significance | 15 | 48463894 | 48463894 | Human | 3 | name |
| 34899431 | CV916583 | single nucleotide variant | NM_000138.5(FBN1):c.4748-3T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001188373]|Marfan syndrome [RCV003770116]|Marfan syndrome [RCV004010280] | likely benign | 15 | 48465861 | 48465861 | Human | 3 | name |
| 34898265 | CV916588 | single nucleotide variant | NM_000138.5(FBN1):c.4583-8G>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001187104]|Marfan syndrome [RCV002068457]|not specified [RCV002249769] | benign|likely benign | 15 | 48468110 | 48468110 | Human | 3 | name |
| 34901713 | CV916592 | single nucleotide variant | NM_000138.5(FBN1):c.4337-6C>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001192131]|Marfan syndrome [RCV003770174]|Marfan syndrome [RCV004803554] | likely benign|uncertain significance | 15 | 48470762 | 48470762 | Human | 3 | name |
| 34901483 | CV916598 | single nucleotide variant | NM_000138.5(FBN1):c.1147+4A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001191745]|not specified [RCV002282476] | uncertain significance | 15 | 48520655 | 48520655 | Human | 1 | name |
| 34899891 | CV916602 | single nucleotide variant | NM_000138.5(FBN1):c.443-12C>A | Familial thoracic aortic aneurysm and aortic dissection [RCV001189103]|Marfan syndrome [RCV002559161] | likely benign|uncertain significance | 15 | 48596390 | 48596390 | Human | 3 | name |
| 34901715 | CV916614 | single nucleotide variant | NM_000138.5(FBN1):c.347-15T>C | Familial thoracic aortic aneurysm and aortic dissection [RCV001192135]|Marfan syndrome [RCV002069184]|Marfan syndrome [RCV004010575] | likely benign | 15 | 48600249 | 48600249 | Human | 3 | name |
| 34895755 | CV917534 | single nucleotide variant | NM_000138.5(FBN1):c.4942+3A>G | not provided [RCV001751351]|not specified [RCV001192915] | uncertain significance | 15 | 48465565 | 48465565 | Human | | name |
| 34895761 | CV917535 | single nucleotide variant | NM_000138.5(FBN1):c.3464-3C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV005402977]|Marfan syndrome [RCV002560158]|Marfan syndrome [RCV004010602]|not specified [RCV001192919] | likely benign|uncertain significance | 15 | 48487203 | 48487203 | Human | 3 | name |
| 34895758 | CV917536 | single nucleotide variant | NM_000138.5(FBN1):c.1714+1G>T | Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections [RCV001192917]|Marfan syndrome [RCV003142118] | likely pathogenic | 15 | 48510043 | 48510043 | Human | 2 | name |
| 38461246 | CV920345 | single nucleotide variant | NM_000138.5(FBN1):c.3083-2A>G | Progeroid and marfanoid aspect-lipodystrophy syndrome [RCV001197431] | pathogenic | 15 | 48488495 | 48488495 | Human | 1 | name |
| 38461139 | CV940327 | single nucleotide variant | NM_000138.5(FBN1):c.5296+3G>T | Marfan syndrome [RCV001211963] | pathogenic | 15 | 48460243 | 48460243 | Human | 1 | name |
| 38481127 | CV940328 | single nucleotide variant | NM_000138.5(FBN1):c.2539+6T>G | Marfan syndrome [RCV001206700] | uncertain significance | 15 | 48495463 | 48495463 | Human | 1 | name |
| 38458364 | CV940329 | single nucleotide variant | NM_000138.5(FBN1):c.2168-1G>C | Marfan syndrome [RCV001211389] | pathogenic | 15 | 48497392 | 48497392 | Human | 1 | name |
| 38496345 | CV957443 | deletion | NM_000138.5(FBN1):c.7453+1del | Marfan syndrome [RCV001242499] | pathogenic | 15 | 48425368 | 48425368 | Human | 1 | name |
| 38497552 | CV960113 | single nucleotide variant | NM_000138.5(FBN1):c.6997+5G>T | Familial thoracic aortic aneurysm and aortic dissection [RCV004822330]|Marfan syndrome [RCV001227153] | uncertain significance | 15 | 48428341 | 48428341 | Human | 3 | name |
| 38482291 | CV960114 | duplication | NM_000138.5(FBN1):c.4748-2dup | Marfan syndrome [RCV001235410] | uncertain significance | 15 | 48465859 | 48465860 | Human | 1 | name |
| 38479040 | CV960115 | single nucleotide variant | NM_000138.5(FBN1):c.4747+3A>T | Marfan syndrome [RCV001234148] | likely pathogenic|uncertain significance | 15 | 48467935 | 48467935 | Human | 1 | name |
| 38494820 | CV960116 | single nucleotide variant | NM_000138.5(FBN1):c.3964+5G>T | Marfan syndrome [RCV001225328] | uncertain significance | 15 | 48481650 | 48481650 | Human | 1 | name |
| 38477581 | CV960117 | duplication | NM_000138.5(FBN1):c.2167+2dup | Marfan syndrome [RCV001233543] | uncertain significance | 15 | 48498982 | 48498983 | Human | 1 | name |
| 40816187 | CV969181 | single nucleotide variant | NM_000138.5(FBN1):c.7454-6T>C | Marfan syndrome [RCV003770350]|not specified [RCV001260304] | likely benign|uncertain significance | 15 | 48422074 | 48422074 | Human | 1 | name |
| 126908971 | CV970446 | single nucleotide variant | NM_000138.5(FBN1):c.7453+1G>A | Familial thoracic aortic aneurysm and aortic dissection [RCV005340736]|Isolated thoracic aortic aneurysm [RCV001374812]|not provided [RCV001565064] | pathogenic|likely pathogenic | 15 | 48425368 | 48425368 | Human | 1 | name |
| 126908974 | CV970449 | single nucleotide variant | NM_000138.5(FBN1):c.7205-2A>G | Isolated thoracic aortic aneurysm [RCV001374815]|Marfan syndrome [RCV003770360] | pathogenic|likely pathogenic | 15 | 48425866 | 48425866 | Human | 2 | name |
| 126908960 | CV970467 | single nucleotide variant | NM_000138.5(FBN1):c.2293+1G>C | Isolated thoracic aortic aneurysm [RCV001374792] | likely pathogenic | 15 | 48497265 | 48497265 | Human | | name |
| 126908978 | CV970472 | single nucleotide variant | NM_000138.5(FBN1):c.1147+1G>A | Isolated thoracic aortic aneurysm [RCV001374818] | likely pathogenic | 15 | 48520658 | 48520658 | Human | | name |
| 40815310 | CV971019 | single nucleotide variant | NM_000138.5(FBN1):c.3589+3A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV001799058]|Marfan syndrome [RCV001262621]|Marfan syndrome [RCV003770366] | uncertain significance | 15 | 48487072 | 48487072 | Human | 3 | name |
| 41405429 | CV981916 | single nucleotide variant | NM_000138.5(FBN1):c.3589+6T>C | not provided [RCV001812988] | uncertain significance | 15 | 48487069 | 48487069 | Human | | name |
| 41405306 | CV981919 | single nucleotide variant | NM_000138.5(FBN1):c.1838-1G>T | not provided [RCV001812920] | pathogenic | 15 | 48505148 | 48505148 | Human | | name |
| 41405557 | CV981920 | single nucleotide variant | NM_000138.5(FBN1):c.989-10T>C | Marfan syndrome [RCV002069524]|not provided [RCV001732111] | likely benign | 15 | 48520827 | 48520827 | Human | 1 | name |
| 8691047 | CV141006 | single nucleotide variant | NM_000138.5(FBN1):c.2678-15C>T | Familial thoracic aortic aneurysm and aortic dissection [RCV001178356]|Marfan syndrome [RCV002055532]|Marfan syndrome [RCV003997431]|not provided [RCV001812030]|not specified [RCV000154720] | benign | 15 | 48494269 | 48494269 | Human | 3 | name |
| 8691052 | CV141011 | single nucleotide variant | NM_000138.5(FBN1):c.4460-19A>G | Marfan syndrome [RCV002055533]|not provided [RCV001812032]|not specified [RCV000125010] | benign | 15 | 48468553 | 48468553 | Human | 1 | name |
| 8691053 | CV141012 | single nucleotide variant | NM_000138.5(FBN1):c.5296+14G>A | Acromicric dysplasia [RCV000312797]|Ectopia lentis 1, isolated, autosomal dominant [RCV000403728]|Familial thoracic aortic aneurysm and aortic dissection [RCV000313536]|Geleophysic dysplasia [RCV000334690]|Marfan syndrome [RCV000395971]|Marfan syndrome [RCV002055534]|Stiff skin syndrome [RCV00037059 2]|Weill-Marchesani syndrome [RCV000282015]|not provided [RCV003103732]|not specified [RCV000125012] | benign|likely benign|conflicting interpretations of pathogenicity | 15 | 48460232 | 48460232 | Human | 8 | name |
| 8691056 | CV141015 | single nucleotide variant | NM_000138.5(FBN1):c.6997+17C>G | Marfan syndrome [RCV002055535]|Marfan syndrome [RCV003148652]|not provided [RCV001812034]|not specified [RCV000125022] | benign | 15 | 48428329 | 48428329 | Human | 1 | name |
| 9689743 | CV175984 | duplication | NM_000138.5(FBN1):c.5066-14dup | Acromicric dysplasia [RCV000273026]|Ectopia lentis [RCV000284902]|Familial thoracic aortic aneurysm and aortic dissection [RCV000181406]|Geleophysic dysplasia [RCV000325512]|Marfan syndrome [RCV000377023]|Marfan syndrome [RCV002056080]|Stiff skin syndrome [RCV000267078]|Weill-Marchesani syndrome [RC V000365244]|not provided [RCV001719972]|not specified [RCV000155352] | benign|not provided | 15 | 48463253 | 48463254 | Human | 9 | name |
| 9690056 | CV176128 | single nucleotide variant | NM_000138.5(FBN1):c.5065+10A>G | Marfan syndrome [RCV000474665]|not provided [RCV005229992]|not specified [RCV000155704] | benign|likely benign|conflicting interpretations of pathogenicity | 15 | 48463889 | 48463889 | Human | 1 | name |
| 596942616 | CV3544178 | single nucleotide variant | NM_000138.5(FBN1):c.3965-13C>A | not specified [RCV004800169] | likely benign | 15 | 48474663 | 48474663 | Human | | name |
| 596942555 | CV3545930 | single nucleotide variant | NM_000138.5(FBN1):c.4583-10T>C | Marfan syndrome [RCV004803781] | likely benign | 15 | 48468112 | 48468112 | Human | 1 | name |
| 596942560 | CV3545931 | single nucleotide variant | NM_000138.5(FBN1):c.4583-13A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV005403450]|Marfan syndrome [RCV004803782] | likely benign | 15 | 48468115 | 48468115 | Human | 3 | name |
| 597733432 | CV3732845 | single nucleotide variant | NM_000138.5(FBN1):c.1148-13T>A | Marfan syndrome [RCV005051211] | likely pathogenic | 15 | 48516375 | 48516375 | Human | 1 | name |
| 597833162 | CV3864068 | single nucleotide variant | NM_000138.5(FBN1):c.3337+19G>A | Marfan syndrome [RCV005209704] | likely benign | 15 | 48488094 | 48488094 | Human | 1 | name |
| 597841011 | CV3864601 | single nucleotide variant | NM_000138.5(FBN1):c.6380-20T>A | Marfan syndrome [RCV005211212] | likely benign | 15 | 48437097 | 48437097 | Human | 1 | name |
| 597842003 | CV3864970 | single nucleotide variant | NM_000138.5(FBN1):c.7331-14T>A | Marfan syndrome [RCV005211418] | likely benign | 15 | 48425505 | 48425505 | Human | 1 | name |
| 597842420 | CV3865058 | single nucleotide variant | NM_000138.5(FBN1):c.6037+18T>G | Marfan syndrome [RCV005211506] | likely benign | 15 | 48444523 | 48444523 | Human | 1 | name |
| 597838762 | CV3867052 | single nucleotide variant | NM_000138.5(FBN1):c.5917+13C>G | Marfan syndrome [RCV005226044] | likely benign | 15 | 48445363 | 48445363 | Human | 1 | name |
| 597839096 | CV3867641 | single nucleotide variant | NM_000138.5(FBN1):c.3839-18A>G | Marfan syndrome [RCV005210836] | likely benign | 15 | 48481798 | 48481798 | Human | 1 | name |
| 597839494 | CV3867716 | single nucleotide variant | NM_000138.5(FBN1):c.2729-13T>C | Marfan syndrome [RCV005210912] | likely benign | 15 | 48492599 | 48492599 | Human | 1 | name |
| 597839721 | CV3867761 | single nucleotide variant | NM_000138.5(FBN1):c.7819+13T>C | Marfan syndrome [RCV005210957] | likely benign | 15 | 48420674 | 48420674 | Human | 1 | name |
| 597839947 | CV3867801 | single nucleotide variant | NM_000138.5(FBN1):c.1468+20T>C | Marfan syndrome [RCV005210997] | likely benign | 15 | 48515367 | 48515367 | Human | 1 | name |
| 597839953 | CV3867802 | duplication | NM_000138.5(FBN1):c.7331-17dup | Marfan syndrome [RCV005210998] | likely benign | 15 | 48425507 | 48425508 | Human | 1 | name |
| 597840147 | CV3873466 | single nucleotide variant | NM_000138.5(FBN1):c.3965-17A>G | Marfan syndrome [RCV005226293] | likely benign | 15 | 48474667 | 48474667 | Human | 1 | name |
| 597840787 | CV3873588 | single nucleotide variant | NM_000138.5(FBN1):c.1147+16G>T | Marfan syndrome [RCV005226415] | likely benign | 15 | 48520643 | 48520643 | Human | 1 | name |
| 597835818 | CV3874287 | single nucleotide variant | NM_000138.5(FBN1):c.8227-15C>G | Marfan syndrome [RCV005210207] | likely benign | 15 | 48411394 | 48411394 | Human | 1 | name |
| 597836576 | CV3874473 | single nucleotide variant | NM_000138.5(FBN1):c.3338-16C>A | Marfan syndrome [RCV005210394] | likely benign | 15 | 48487453 | 48487453 | Human | 1 | name |
| 597834624 | CV3878698 | single nucleotide variant | NM_000138.5(FBN1):c.7331-19T>C | Marfan syndrome [RCV005225069] | likely benign | 15 | 48425510 | 48425510 | Human | 1 | name |
| 598128174 | CV3883194 | single nucleotide variant | NM_000138.5(FBN1):c.3713-12T>G | not provided [RCV005234727] | likely benign | 15 | 48483955 | 48483955 | Human | | name |
| 598121861 | CV3885769 | single nucleotide variant | NM_000138.5(FBN1):c.6872-11A>G | Marfan syndrome [RCV005241286] | pathogenic | 15 | 48428482 | 48428482 | Human | 1 | name |
| 598121874 | CV3885778 | single nucleotide variant | NM_000138.5(FBN1):c.1468+24C>T | Marfan syndrome [RCV005241296] | uncertain significance | 15 | 48515363 | 48515363 | Human | 1 | name |
| 598121875 | CV3885779 | single nucleotide variant | NM_000138.5(FBN1):c.6038-14T>G | Marfan syndrome [RCV005241297] | likely pathogenic | 15 | 48441860 | 48441860 | Human | 1 | name |
| 598222829 | CV3892251 | single nucleotide variant | NM_000138.5(FBN1):c.5789-15G>A | Marfan syndrome [RCV005253590] | likely pathogenic | 15 | 48445519 | 48445519 | Human | 1 | name |
| 8569398 | CV44704 | deletion | NM_000138.5(FBN1):c.1714+54del | Marfan syndrome [RCV000029700] | uncertain significance|not provided | 15 | 48509990 | 48509990 | Human | 1 | name |
| 8569405 | CV44712 | deletion | NM_000138.5(FBN1):c.2420-58del | Marfan syndrome [RCV000029708]|not provided [RCV000834647] | benign|uncertain significance | 15 | 48495646 | 48495646 | Human | 1 | name |
| 8569442 | CV44753 | single nucleotide variant | NM_000138.5(FBN1):c.5545+12C>T | Marfan syndrome [RCV003764641]|not specified [RCV005237426] | likely benign|uncertain significance | 15 | 48452550 | 48452550 | Human | 1 | name |
| 8569452 | CV44763 | deletion | NM_000138.5(FBN1):c.6380-83del | Marfan syndrome [RCV000029761] | uncertain significance | 15 | 48437160 | 48437160 | Human | 1 | name |
| 8569462 | CV44774 | deletion | NM_000138.5(FBN1):c.6998-40del | Marfan syndrome [RCV002513251]|not provided [RCV002510772]|not specified [RCV000247867] | benign|likely benign|uncertain significance | 15 | 48427813 | 48427813 | Human | 1 | name |
| 8605236 | CV51562 | single nucleotide variant | NM_000138.5(FBN1):c.5788+10C>A | Acromicric dysplasia [RCV000406279]|Ectopia lentis 1, isolated, autosomal dominant [RCV000281938]|FBN1-related disorder [RCV004534733]|Familial thoracic aortic aneurysm and aortic dissection [RCV000282796]|Geleophysic dysplasia [RCV000373882]|Marfan syndrome [RC V000379530]|Marfan syndrome [RCV000540069]|Stiff skin syndrome [RCV000334596]|Weill-Marchesani syndrome [RCV000321537]|not provided [RCV003884338]|not specified [RCV000035234] | benign|likely benign|conflicting interpretations of pathogenicity | 15 | 48446696 | 48446696 | Human | 8 | name |
| 40889479 | CV972598 | single nucleotide variant | NM_000138.5(FBN1):c.1147+19A>G | Marfan syndrome [RCV002069386]|not specified [RCV001264548] | likely benign|uncertain significance | 15 | 48520640 | 48520640 | Human | 1 | name |
| 42723948 | CV983991 | single nucleotide variant | NM_000138.5(FBN1):c.3590-11A>G | Familial thoracic aortic aneurysm and aortic dissection [RCV003528285]|Marfan syndrome [RCV002543009]|not specified [RCV001290540] | likely benign|uncertain significance | 15 | 48485507 | 48485507 | Human | 3 | name |
