FBN1

Clinically classified variants

614 reference-table entries with clinical significance (first 200 shown).

• rs140587Benignsingle nucleotide variantMarfan syndrome|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Geleophysic dysplasia|Stiff skin syndrome|Acromicric dysplasia|Connective tissue disorder
• rs140598Benignsingle nucleotide variantMarfan syndrome|FNB1 POLYMORPHISM|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Stiff skin syndrome|Geleophysic dysplasia|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Connective tissue disorder
• rs140650Benignsingle nucleotide variantWeill-Marchesani syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Geleophysic dysplasia|Stiff skin syndrome|Marfan syndrome|Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs181681840Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs200342067Benignsingle nucleotide variantAcromicric dysplasia|Marfan syndrome|Geleophysic dysplasia|Stiff skin syndrome|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Cardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs1057517910Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501036Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs111801777Conflicting interpretationssingle nucleotide variantMarfan syndrome|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs111984349Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|8 conditions|Isolated thoracic aortic aneurysm
• rs113080385Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Marfan syndrome
• rs113086760Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs113904256Conflicting interpretationssingle nucleotide variantStiff skin syndrome|Marfan syndrome|Geleophysic dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Weill-Marchesani syndrome|Acromicric dysplasia|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1303389437Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1346043320Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome 2, dominant|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
• rs137854468Conflicting interpretationssingle nucleotide variantMarfan syndrome, mild|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs137854475Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Geleophysic dysplasia|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Stiff skin syndrome|Acromicric dysplasia|MASS syndrome|Cardiovascular phenotype|8 conditions|MASS syndrome|Ectopia lentis|Weill-Marchesani syndrome|Congenital aneurysm of ascending aorta|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Disproportionate tall stature
• rs137854485Conflicting interpretationssingle nucleotide variantMarfan syndrome, autosomal recessive|Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs138621371Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs140396599Conflicting interpretationssingle nucleotide variantGeleophysic dysplasia|Weill-Marchesani syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Stiff skin syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
• rs140954477Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder
• rs141868829Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
• rs142888621Conflicting interpretationssingle nucleotide variantStiff skin syndrome|Geleophysic dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Weill-Marchesani syndrome|Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Cardiovascular phenotype
• rs145040593Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection
• rs145105768Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Acromicric dysplasia|Geleophysic dysplasia|Marfan syndrome|Ectopia lentis 1, isolated, autosomal dominant|Stiff skin syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Inborn genetic diseases
• rs145942328Conflicting interpretationssingle nucleotide variantMarfan syndrome|Cardiovascular phenotype|Congenital aneurysm of ascending aorta|Acute aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs146726731Conflicting interpretationssingle nucleotide variantMarfan syndrome|Acromicric dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Geleophysic dysplasia|Weill-Marchesani syndrome|Familial thoracic aortic aneurysm and aortic dissection|Stiff skin syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Connective tissue disorder
• rs147195031Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome, autosomal recessive|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Isolated thoracic aortic aneurysm
• rs148831709Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs148888513Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|8 conditions|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Isolated thoracic aortic aneurysm|Connective tissue disorder
• rs149697299Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Acromicric dysplasia|Stiff skin syndrome|Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Geleophysic dysplasia|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs183306990Conflicting interpretationssingle nucleotide variantMarfan syndrome|MASS syndrome|Familial thoracic aortic aneurysm and aortic dissection|Geleophysic dysplasia|Stiff skin syndrome|Acromicric dysplasia|Weill-Marchesani syndrome|Ectopia lentis|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs187553035Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Stiff skin syndrome|Geleophysic dysplasia|Acromicric dysplasia|Marfan syndrome|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Familial thoracic aortic aneurysm and aortic dissection
• rs193922179Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs193922205Conflicting interpretationssingle nucleotide variantMarfan syndrome|Acute aortic dissection|Congenital aneurysm of ascending aorta|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs193922209Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs193922210Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs193922219Conflicting interpretationssingle nucleotide variantMarfan syndrome
• rs199522781Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Geleophysic dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Acromicric dysplasia|Weill-Marchesani syndrome|Stiff skin syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs200125037Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder|Familial thoracic aortic aneurysm and aortic dissection
• rs200816828Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Connective tissue disorder
• rs200841830Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Acromicric dysplasia|Stiff skin syndrome|Weill-Marchesani syndrome|Geleophysic dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs201273753Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Congenital aneurysm of ascending aorta|Acute aortic dissection|8 conditions|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Stiff skin syndrome|Geleophysic dysplasia|Acromicric dysplasia|Ectopia lentis 1, isolated, autosomal dominant
• rs201309310Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection
• rs363806Conflicting interpretationssingle nucleotide variantMarfan syndrome|Ectopia lentis 1, isolated, autosomal dominant|Weill-Marchesani syndrome|Familial thoracic aortic aneurysm and aortic dissection|Stiff skin syndrome|Acromicric dysplasia
• rs363811Conflicting interpretationssingle nucleotide variantMarfan syndrome|Cardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Isolated thoracic aortic aneurysm
• rs368726848Conflicting interpretationssingle nucleotide variantEctopia lentis 1, isolated, autosomal dominant|Marfan syndrome|Stiff skin syndrome|Acromicric dysplasia|Familial thoracic aortic aneurysm and aortic dissection|Weill-Marchesani syndrome|Geleophysic dysplasia|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs373510719Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs375996640Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Stiff skin syndrome|Ectopia lentis 1, isolated, autosomal dominant|Acromicric dysplasia|Marfan syndrome|Geleophysic dysplasia|Weill-Marchesani syndrome|Cardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Connective tissue disorder
• rs377036485Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection
• rs397515764Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Cardiovascular phenotype|Marfan syndrome|Connective tissue disorder
• rs397515793Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
• rs397515796Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs397515807Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs397515827Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs397515863Conflicting interpretationssingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs548296552Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Isolated thoracic aortic aneurysm
• rs560004254Conflicting interpretationssingle nucleotide variantAcromicric dysplasia|Ectopia lentis 1, isolated, autosomal dominant|Geleophysic dysplasia|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Weill-Marchesani syndrome|Stiff skin syndrome
• rs61746008Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia|Geleophysic dysplasia|Weill-Marchesani syndrome|Ectopia lentis 1, isolated, autosomal dominant|Stiff skin syndrome|Inborn genetic diseases|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs727504642Conflicting interpretationssingle nucleotide variantCardiovascular phenotype
• rs746127796Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Acromicric dysplasia
• rs758366498Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs76702162Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs768831064Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs779749926Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs794728160Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Marfan syndrome
• rs794728185Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Marfan syndrome
• rs794728208Conflicting interpretationssingle nucleotide variantMarfan syndrome|8 conditions|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection
• rs794728217Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs794728218Conflicting interpretationssingle nucleotide variant
• rs794728220Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs794728250Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection
• rs794728255Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Inborn genetic diseases
• rs794728315Conflicting interpretationsDuplicationFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs794728325Conflicting interpretationssingle nucleotide variantMarfan syndrome|Inborn genetic diseases|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs794728331Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs794728333Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Marfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs869025403Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs869025408Conflicting interpretationssingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs886038877Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
• rs886038953Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Isolated thoracic aortic aneurysm
• rs886038967Conflicting interpretationssingle nucleotide variantCardiovascular phenotype
• rs886039038Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs932764622Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs1057517855Likely pathogenicsingle nucleotide variant
• rs1057518023Likely pathogenicsingle nucleotide variant
• rs1057518034Likely pathogenicDeletion
• rs1057518444Likely pathogenicsingle nucleotide variant
• rs1057518809Likely pathogenicsingle nucleotide variantPolycystic liver disease 1|Autosomal dominant polycystic liver disease|Ascending aortic dissection|Aortic dissection|Aortic dilatation
• rs1057518881Likely pathogenicsingle nucleotide variantMyopia|Tall stature|Lens subluxation|Pectus carinatum
• rs1057518883Likely pathogenicsingle nucleotide variant7 conditions
• rs1057521100Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs1057521101Likely pathogenicsingle nucleotide variant
• rs1057521103Likely pathogenicsingle nucleotide variant
• rs1057521211Likely pathogenicsingle nucleotide variant
• rs1057522272Likely pathogenicsingle nucleotide variant
• rs1057523406Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs1057523796Likely pathogenicsingle nucleotide variant
• rs1057524697Likely pathogenicsingle nucleotide variant
• rs1057524735Likely pathogenicsingle nucleotide variant
• rs1057524757Likely pathogenicsingle nucleotide variant
• rs1060501019Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501033Likely pathogenicDeletionFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501044Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501055Likely pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501065Likely pathogenicDeletionMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501069Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501070Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1060501075Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs1064793113Likely pathogenicsingle nucleotide variant
• rs1064793114Likely pathogenicsingle nucleotide variant
• rs1064793115Likely pathogenicsingle nucleotide variant
• rs1064793117Likely pathogenicsingle nucleotide variant
• rs1064793118Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs1064794796Likely pathogenicsingle nucleotide variant
• rs1064794882Likely pathogenicsingle nucleotide variant
• rs1064796667Likely pathogenicsingle nucleotide variant
• rs1064796731Likely pathogenicsingle nucleotide variant
• rs1064796866Likely pathogenicsingle nucleotide variant
• rs112202622Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs112660651Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs113604459Likely pathogenicsingle nucleotide variantCardiovascular phenotype
• rs1206813753Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs1246984265Likely pathogenicsingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs137854463Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs140648Likely pathogenicsingle nucleotide variantCardiovascular phenotype|Marfan syndrome
• rs193922181Likely pathogenicDuplicationMarfan syndrome
• rs193922183Likely pathogenicsingle nucleotide variantMarfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
• rs193922186Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922187Likely pathogenicDeletionMarfan syndrome
• rs193922188Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922189Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922191Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922193Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922199Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922203Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922206Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922207Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922212Likely pathogenicDeletionMarfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
• rs193922214Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922216Likely pathogenicsingle nucleotide variantMarfan syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs193922218Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922220Likely pathogenicDuplicationMarfan syndrome
• rs193922223Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922224Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922225Likely pathogenicDuplicationMarfan syndrome
• rs193922226Likely pathogenicDeletionMarfan syndrome
• rs193922227Likely pathogenicDuplicationMarfan syndrome
• rs193922230Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922235Likely pathogenicDeletionMarfan syndrome
• rs193922239Likely pathogenicsingle nucleotide variantMarfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs193922240Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs193922241Likely pathogenicDeletionMarfan syndrome
• rs193922246Likely pathogenicDeletionMarfan syndrome
• rs200295020Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs267606798Likely pathogenicsingle nucleotide variantStiff skin syndrome|Marfan syndrome
• rs363810Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs363815Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Isolated thoracic aortic aneurysm
• rs363853Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs369058466Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome
• rs397515758Likely pathogenicMicrosatelliteMarfan syndrome
• rs397515762Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515770Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515771Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515773Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515776Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515779Likely pathogenicDuplicationMarfan syndrome
• rs397515781Likely pathogenicDeletionMarfan syndrome
• rs397515785Likely pathogenicDeletionMarfan syndrome
• rs397515790Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515799Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515801Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515808Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs397515816Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515818Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515820Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515823Likely pathogenicsingle nucleotide variantMarfan syndrome|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Familial thoracic aortic aneurysm and aortic dissection
• rs397515825Likely pathogenicDeletionMarfan syndrome
• rs397515826Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515829Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515831Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515837Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515840Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515845Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515847Likely pathogenicsingle nucleotide variantMarfan syndrome|Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection
• rs397515851Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515853Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515864Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515865Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs397515866Likely pathogenicDeletionMarfan syndrome
• rs536588176Likely pathogenicsingle nucleotide variant
• rs727503056Likely pathogenicDeletionWeill-Marchesani syndrome
• rs727503058Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs727504315Likely pathogenicDeletionMarfan syndrome
• rs727504454Likely pathogenicDeletionMarfan syndrome
• rs727505110Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs730880097Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs730880098Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs730880100Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs730880103Likely pathogenicsingle nucleotide variantMarfan syndrome
• rs730880104Likely pathogenicsingle nucleotide variantMarfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome

Other listed variants

• rs25403
• rs25404
• rs140583
• rs140597
• rs140599
• rs140603
• rs140627
• rs140630
• rs363805
• rs363807
• rs363808
• rs363852
• rs605372
• rs668842
• rs1036477
• rs1807301
• rs1827918
• rs2279233
• rs2899417
• rs4775768
• rs6493333
• rs11854368
• rs28730795
• rs35656954
• rs55770392
• rs62011404
• rs74873174
• rs75071782
• rs76106106
• rs76249401
• rs77702824
• rs78141811
• rs78970689
• rs111231312
• rs111401431
• rs111671429
• rs111687884
• rs111856492
• rs111929350
• rs112118237
• rs112289537
• rs112642323
• rs112645512
• rs112728248
• rs112989722

Public references

• NCBI Gene
• Ensembl
• ClinVar