Sugi Variant

Sugi Variant/PRKG1

PRKG1 — 934 ClinVar variants

All ClinVar germline PRKG1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 286 flagged for review →

1 Pathogenic · 20 Conflicting · 73 Benign · 25 Benign/Likely benign · 420 Likely benign · 395 Uncertain significance

Full PRKG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 286

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 206

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 206

Predictors split 72

The independent predictors disagree with each other — read with care.

All PRKG1 variants

Pathogenic 1

  • p.Arg192Gln Multiple submitters aortic aneurysm, familial thoracic 8

Conflicting classifications of pathogenicity 20

  • c.1076+19_1076+20insTGGCCTT Single submitter aortic aneurysm, familial thoracic 8
  • c.1173+4G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1710-4G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.698+4G>A Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg643Lys Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asn259= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asn369Ser Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asn604Thr Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp672Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly681= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ile25= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ile264Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys141Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys632= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe526Leu Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ser233= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ser654= Single submitter aortic aneurysm, familial thoracic 8
  • p.Thr280Met Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr298Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Tyr489Phe Single submitter aortic aneurysm, familial thoracic 8 ⚠

Benign 73

Benign/Likely benign 25

  • c.1002-10C>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1002-9G>A Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1896-11del Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1963-15G>A Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1963-16T>G Multiple submitters connective tissue disorder
  • c.1963-19dup Multiple submitters
  • c.1963-5dup Multiple submitters aortic aneurysm, familial thoracic 8
  • c.312-12C>G Multiple submitters aortic aneurysm, familial thoracic 8
  • c.763-15G>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.840+14G>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.-68GCC[13] Multiple submitters
  • p.Asn282Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp107= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Asp142= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gly302= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gly342= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gly430= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His509Tyr Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Leu339= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Lys357= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Lys41= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser433= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser66Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr174= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Tyr360= Multiple submitters aortic aneurysm, familial thoracic 8

Likely benign 420

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1001+12G>A Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1001+136G>A Multiple submitters
  • c.1002-190C>T Multiple submitters
  • c.1173+8A>G Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1174-146G>C Multiple submitters
  • c.1174-15C>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1174-7_1174-4del Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1174-9T>G Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1313+114C>A Multiple submitters
  • c.1403+101A>C Multiple submitters
  • c.1404-113G>C Multiple submitters
  • c.1546-52T>A Multiple submitters
  • c.1710-20C>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1962+40G>A Multiple submitters
  • c.266+52G>C Multiple submitters
  • c.267-78848C>G Multiple submitters
  • c.478+10G>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.478+19A>G Multiple submitters aortic aneurysm, familial thoracic 8
  • c.479-8C>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.592+37G>A Multiple submitters
  • c.762+158G>A Multiple submitters
  • c.763-20T>G Multiple submitters aortic aneurysm, familial thoracic 8
  • c.763-8C>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.841-58T>C Multiple submitters
  • c.841-9T>C Multiple submitters aortic aneurysm, familial thoracic 8
  • c.-144C>A Multiple submitters
  • c.-152A>G Multiple submitters
  • p.Ala194= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ala60= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala656= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ala81= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Arg21= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Arg54= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn319= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn44= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn583= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn671= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn679= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Asp150= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp33= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp672= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Asp683= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp87= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Cys144= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Cys190= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gln12= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln43= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gln69= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln8= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu243= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Glu27= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu313= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Glu352= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Glu593= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Glu71= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gly182= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gly535= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly575= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.His411= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ile127= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ile263= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile264= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile406= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile506= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ile545= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile79= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Leu124= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu154= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu24= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Leu372= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu381= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Leu439= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Leu507= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu559= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Leu642= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Lys162= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Lys444= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys528= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Lys608= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Met13Ile Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Phe237= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe273= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Phe367= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Phe386= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe667= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro241= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Pro289= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Pro537= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro55= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Pro72= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser125= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser470= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser553= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser558= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser570= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser615= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser80= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Thr195= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr214= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Thr225= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr317= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr476= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Thr57= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Tyr49= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Tyr512= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr539= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Tyr9= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val315= Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Val52= Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1001+13T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1001+7A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1001+9A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1002-11del Single submitter
  • c.1002-20del Single submitter aortic aneurysm, familial thoracic 8
  • c.1002-7C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1076+14_1076+15del Single submitter aortic aneurysm, familial thoracic 8
  • c.1076+15T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1076+16C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1076+17_1076+18insGTTGGCC Single submitter aortic aneurysm, familial thoracic 8
  • c.1076+22818C>T Single submitter
  • c.1076+22872_1076+22874del Single submitter
  • c.1076+9C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1077-12C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1077-15C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1077-17dup Single submitter aortic aneurysm, familial thoracic 8
  • c.1077-208G>A Single submitter
  • c.1077-20T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1077-6A>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1173+10T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1173+12T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1173+14_1173+16del Single submitter aortic aneurysm, familial thoracic 8
  • c.1173+14C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1173+9T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1174-122_1174-121del Single submitter
  • c.1174-16TC[2] Single submitter aortic aneurysm, familial thoracic 8
  • c.1174-290C>T Single submitter
  • c.1174-4T>A Single submitter
  • c.1313+10C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1313+13T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1313+62C>G Single submitter
  • c.1313+7G>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1314-9A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1403+285_1403+286insACAG Single submitter
  • c.1403+9T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1404-10T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1404-12T>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1404-16C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1404-17C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1404-308C>T Single submitter
  • c.1404-5C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1404-9G>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1545+17C>A Single submitter connective tissue disorder
  • c.1545+17C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1545+18G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1545+20G>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1545+44T>C Single submitter
  • c.1546-10dup Single submitter aortic aneurysm, familial thoracic 8
  • c.1546-11C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1546-141_1546-137dup Single submitter
  • c.1546-15T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1546-17T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1546-201C>T Single submitter
  • c.1546-20T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1546-284G>C Single submitter
  • c.1546-7_1546-6del Single submitter aortic aneurysm, familial thoracic 8
  • c.1546-7T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1709+17G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1709+9A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1710-19G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1710-19G>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1832+11C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1832+14C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1833-17C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1895+13T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1895+17C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1895+19G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1896-17G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1896-18C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1896-20_1896-18del Single submitter aortic aneurysm, familial thoracic 8
  • c.1896-9del Single submitter aortic aneurysm, familial thoracic 8
  • c.1962+13T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1962+154C>A Single submitter
  • c.1962+18C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1962+20T>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1962+246C>A Single submitter
  • c.1962+255A>T Single submitter
  • c.1962+9A>T Single submitter aortic aneurysm, familial thoracic 8
  • c.1963-10T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1963-12C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.1963-13C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1963-19del Single submitter
  • c.1963-5T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.1963-92A>C Single submitter
  • c.1963-9T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.266+134C>A Single submitter
  • c.266+35C>T Single submitter
  • c.311+10G>C Single submitter aortic aneurysm, familial thoracic 8
  • c.311+11G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.311+15C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.311+8G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.312-13T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.312-174T>G Single submitter
  • c.312-278C>T Single submitter
  • c.478+14C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.478+14C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.478+304C>T Single submitter
  • c.478+7T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.479-12C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.479-14C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.479-188T>C Single submitter
  • c.479-197T>C Single submitter
  • c.479-198G>T Single submitter
  • c.592+10T>C Single submitter
  • c.592+12T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.592+174A>C Single submitter
  • c.592+19T>A Single submitter aortic aneurysm, familial thoracic 8
  • c.592+19T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.592+7C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.592+7C>T Single submitter
  • c.593-105699A>C Single submitter
  • c.593-17C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.593-19C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.593-216C>T Single submitter
  • c.593-6del Single submitter
  • c.593-8T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.698+12_698+73del Single submitter
  • c.698+13C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.698+18C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.699-119_699-118dup Single submitter
  • c.699-17T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.699-7T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.699-8T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.699-9G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.762+1277G>A Single submitter
  • c.762+20G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.762+8T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.763-13T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.763-283A>G Single submitter
  • c.763-44591A>T Single submitter aortic aneurysm, familial thoracic 8
  • c.763-5T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.840+14G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.840+17C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.840+19A>C Single submitter aortic aneurysm, familial thoracic 8
  • c.841-14G>T Single submitter aortic aneurysm, familial thoracic 8
  • c.841-16T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.841-17A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.841-20T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.841-20T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.841-5T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.935+10T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.935+11C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.935+13T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.935+181C>T Single submitter
  • c.935+201A>C Single submitter
  • c.935+7A>T Single submitter aortic aneurysm, familial thoracic 8
  • c.936-167A>G Single submitter
  • c.936-20T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.936-4A>T Single submitter aortic aneurysm, familial thoracic 8
  • c.936-5C>T Single submitter aortic aneurysm, familial thoracic 8
  • c.936-8T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.-30A>G Single submitter
  • c.-345A>G Single submitter
  • c.-68GCC[14] Single submitter
  • c.-68GCC[7] Single submitter
  • c.-75C>A Single submitter
  • p.Ala10= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala185= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala23= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala323= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala350= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala362= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala364= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala455= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala488= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala554= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala56= Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala65= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg19= Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg192= Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg218= Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg388= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg422= Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg466= Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg5= Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg510= Single submitter
  • p.Arg643= Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg73= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg76= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asn189= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn282= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asn376= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asn547= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asn623= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asn638= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp287= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asp353= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp374= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asp379= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp473= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asp551= Single submitter familial thoracic aortic aneurysm and aortic dissection

Uncertain significance 395

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1001+3A>G Multiple submitters aortic aneurysm, familial thoracic 8
  • c.1832+5G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.478+4C>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.478+5G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.840+5G>T Multiple submitters aortic aneurysm, familial thoracic 8
  • c.935+5G>A Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ala356Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala358Gly Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala364Val Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala368Thr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala554Val Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala65Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg285His Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Arg410Cys Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Arg410His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg422Cys Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Arg510Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg510Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg510Ter Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Arg54Gly Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Arg57Trp Multiple submitters Cardiovascular phenotype ⚠
  • p.Arg76Pro Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Asn601Tyr Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Asn620Tyr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asn623Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn663Ser Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asn671del Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Asp107Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp107His Multiple submitters PRKG1-related disorder ⚠
  • p.Asp132Gly Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp150Ala Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp208Asn Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp334Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp344Gly Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp434Asn Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp555Asn Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp627Tyr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp685His Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Cys144Tyr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Cys190Arg Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Cys328Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln126His Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Gln426Arg Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Gln63His Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Glu226Lys Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Glu27Gln Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Glu363Asp Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Glu397Lys Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Glu538Gly Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Gly169Ser Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Gly267Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly302Ter Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Gly469Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly645Val Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Gly681Ala Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Gly681Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His256Tyr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile130Thr Multiple submitters connective tissue disorder ⚠
  • p.Ile15Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile207Thr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile207Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile215Val Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile378Val Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile436Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile464Thr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile552Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile584Val Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile684Met Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu204Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu339Ser Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu68Met Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Lys596Asn Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Lys632Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met216Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met228Thr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Pro100Arg Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Pro100Ser Multiple submitters connective tissue disorder
  • p.Pro103Ser Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Pro136Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro614Leu Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Pro676Ser Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ser102Gly Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser105Phe Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser290Thr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ser446Arg Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ser470Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser64Thr Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Ser654Arg Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Ser654Thr Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Thr327Asn Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Thr475Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr57Ile Multiple submitters aortic aneurysm, familial thoracic 8
  • p.Thr581Ile Multiple submitters ⚠
  • p.Thr646Ala Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Thr646Ser Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Thr67Ile Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr70Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Trp304Arg Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Tyr262His Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Val157Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val170Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val180Ala Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Val196Ile Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Val234Ile Multiple submitters PRKG1-related disorder ⚠
  • p.Val294Gly Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Val320Ile Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Val320Leu Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • p.Val484Leu Multiple submitters aortic aneurysm, familial thoracic 8 ⚠
  • c.1001+6447A>T Single submitter
  • c.1076+6T>C Single submitter
  • c.1173+3A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1303_1313+6dup Single submitter
  • c.1313+5A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1314-8A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1709+18_1709+19delinsAC Single submitter aortic aneurysm, familial thoracic 8
  • c.1709+4T>G Single submitter aortic aneurysm, familial thoracic 8
  • c.1832+3A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.311+15C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.593-2A>C Single submitter aortic aneurysm, familial thoracic 8
  • c.698+3A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.699-1G>A Single submitter aortic aneurysm, familial thoracic 8
  • c.762+1221G>A Single submitter
  • c.762+3A>C Single submitter aortic aneurysm, familial thoracic 8
  • c.840+3A>G Single submitter aortic aneurysm, familial thoracic 8
  • c.840+6C>G Single submitter aortic aneurysm, familial thoracic 8
  • c.841-3C>A Single submitter aortic aneurysm, familial thoracic 8
  • c.935+2T>C Single submitter
  • c.935+6T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.936-3T>C Single submitter aortic aneurysm, familial thoracic 8
  • c.-4del Single submitter
  • c.-5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala185Thr Single submitter ⚠
  • p.Ala206Ser Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala249Pro Single submitter ⚠
  • p.Ala318Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala325Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala350Gly Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala350Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala356Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala362Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala364Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala365Asp Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala365Thr Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala368Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala368Pro Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ala56Ser Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala65Glu Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala78Thr Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala85Thr Single submitter aortic aneurysm, familial thoracic 8
  • p.Ala85Val Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg19Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg209Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg21Gly Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg269Gly Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Arg285Cys Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Arg316Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg388Gln Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Arg388Ter Single submitter aortic aneurysm, familial thoracic 8
  • p.Arg422His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg441Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg50His Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg60Gln Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg60Pro Single submitter ⚠
  • p.Arg76Trp Single submitter
  • p.Arg82= Single submitter
  • p.Arg89Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn121Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn189Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn319Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn348His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn613Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn671Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn679Lys Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp107Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp142Asn Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp22Gly Single submitter Cardiovascular phenotype
  • p.Asp271Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp303Asn Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp303Gly Single submitter ⚠
  • p.Asp332His Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp334Ala Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp334Glu Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp33His Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp344Tyr Single submitter aortic aneurysm, familial thoracic 8
  • p.Asp345Ala Single submitter aortic aneurysm, familial thoracic 8
  • p.Asp345Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp517Asn Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp612Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp665fs Single submitter aortic aneurysm, familial thoracic 8
  • p.Asp665Tyr Single submitter ⚠
  • p.Asp677Glu Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp683Val Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Asp685_Ter687= Single submitter aortic aneurysm, familial thoracic 8
  • p.Asp685Ala Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp87Asn Single submitter
  • p.Asp90Val Single submitter aortic aneurysm, familial thoracic 8
  • p.Cys133Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys133Tyr Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Cys144Ser Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Cys328Gly Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Gln20Glu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln20Ter Single submitter aortic aneurysm, familial thoracic 8
  • p.Gln210Pro Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Gln238His Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Gln238Lys Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Gln266Lys Single submitter aortic aneurysm, familial thoracic 8
  • p.Gln393His Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln40Leu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln426Glu Single submitter ⚠
  • p.Gln43Glu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln44Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln69Arg Single submitter aortic aneurysm, familial thoracic 8
  • p.Gln69Pro Single submitter aortic aneurysm, familial thoracic 8
  • p.Gln77Arg Single submitter aortic aneurysm, familial thoracic 8
  • p.Glu111Ter Single submitter aortic aneurysm, familial thoracic 8
  • p.Glu123Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu129Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu13Gly Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu148_Gly149dup Single submitter aortic aneurysm, familial thoracic 8
  • p.Glu168Gln Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Glu16Gln Single submitter aortic aneurysm, familial thoracic 8
  • p.Glu17Lys Single submitter aortic aneurysm, familial thoracic 8
  • p.Glu261Ala Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Glu27Val Single submitter
  • p.Glu29Gln Single submitter aortic aneurysm, familial thoracic 8
  • p.Glu31Lys Single submitter PRKG1-related disorder ⚠
  • p.Glu355Asp Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Glu361Asp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu397Gly Single submitter ⚠
  • p.Glu45Lys Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu460Gln Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Glu485Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu485Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu538Asp Single submitter ⚠
  • p.Glu543Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu593Lys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu669Lys Single submitter ⚠
  • p.Glu71Lys Single submitter
  • p.Glu82Lys Single submitter aortic aneurysm, familial thoracic 8
  • p.Gly176Ser Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Gly178= Single submitter aortic aneurysm, familial thoracic 8
  • p.Gly267Cys Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly270Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly2Asp Single submitter
  • p.Gly302Glu Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Gly382Arg Single submitter ⚠
  • p.Gly387Arg Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Gly511Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly619Ala Single submitter ⚠
  • p.Gly619Trp Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly636Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly645Arg Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.His411Arg Single submitter ⚠
  • p.His420Arg Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.His420Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His631Tyr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile113Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile130Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile146Val Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile222Asn Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile222Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile264Asn Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile321Thr Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile321Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile377Val Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile421Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile421Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile427Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile436Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile495Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile544Met Single submitter ⚠
  • p.Ile589Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile598Thr Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Ile598Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile684Thr Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu108Ile Single submitter ⚠
  • p.Leu11Phe Single submitter aortic aneurysm, familial thoracic 8
  • p.Leu154Pro Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu199Ile Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu245Val Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu310Phe Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu381Phe Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu381Val Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu38Gln Single submitter aortic aneurysm, familial thoracic 8
  • p.Leu391Arg Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu559Pro Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu566Phe Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Leu91Phe Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys106Glu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys147Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys197Asn Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys232Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys278Asn Single submitter aortic aneurysm, familial thoracic 8
  • p.Lys349Ile Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Lys357Arg Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Lys400Thr Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys409Arg Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys41Glu Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys493Glu Single submitter aortic aneurysm, familial thoracic 8 ⚠
  • p.Lys523Asn Single submitter aortic aneurysm, familial thoracic 8 ⚠