GCN1 — 334 ClinVar variants

All ClinVar germline GCN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 293 flagged for review →

9 Benign · 2 Benign/Likely benign · 13 Likely benign · 310 Uncertain significance

Full GCN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 293

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 lean, ClinVar uncertain 222

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 222

Predictors split 71

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

All GCN1 variants

Benign 9

c.2163+6G>A Multiple submitters
c.6157-8C>G Multiple submitters
p.Ala1939= Multiple submitters
p.Asp214= Multiple submitters
p.Leu2006= Multiple submitters
p.Ser2204= Multiple submitters
c.2436+10C>T Single submitter
p.Gly966Ala Single submitter
p.Ser944= Single submitter

Benign/Likely benign 2

p.Ala161= Multiple submitters
p.Arg68= Multiple submitters

Likely benign 13

p.Ala2324= Single submitter
p.Ala445= Single submitter
p.Arg2401= Single submitter
p.Arg756Cys Single submitter
p.Asn560Ser Single submitter
p.Ile486Val Single submitter
p.Leu2551= Single submitter
p.Thr1631= Single submitter
p.Thr2662Met Single submitter
p.Thr354= Single submitter
p.Thr956Ser Single submitter
p.Val2556Ile Single submitter
p.Val732Ile Single submitter

Uncertain significance 310

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

p.Arg548Gly Multiple submitters ⚠
p.Ala113Thr Single submitter
p.Ala113Val Single submitter ⚠
p.Ala1173Val Single submitter ⚠
p.Ala1194Glu Single submitter arthrogryposis multiplex congenita ⚠
p.Ala1195Val Single submitter ⚠
p.Ala1238Thr Single submitter ⚠
p.Ala1306Val Single submitter ⚠
p.Ala1557Ser Single submitter ⚠
p.Ala15Ser Single submitter ⚠
p.Ala161Thr Single submitter ⚠
p.Ala1903Val Single submitter ⚠
p.Ala1939Gly Single submitter ⚠
p.Ala2013Ser Single submitter
p.Ala2115Val Single submitter
p.Ala222Thr Single submitter ⚠
p.Ala2230Val Single submitter ⚠
p.Ala2324Glu Single submitter ⚠
p.Ala2324Val Single submitter ⚠
p.Ala2455Val Single submitter ⚠
p.Ala247Thr Single submitter ⚠
p.Ala2488Ser Single submitter ⚠
p.Ala2496Ser Single submitter ⚠
p.Ala2519Val Single submitter ⚠
p.Ala2570Asp Single submitter ⚠
p.Ala2659Val Single submitter ⚠
p.Ala321Ser Single submitter ⚠
p.Ala441Ser Single submitter ⚠
p.Ala441Val Single submitter ⚠
p.Ala452Thr Single submitter ⚠
p.Ala534Gly Single submitter ⚠
p.Ala601Val Single submitter ⚠
p.Ala633Gly Single submitter ⚠
p.Ala700Thr Single submitter ⚠
p.Ala858Val Single submitter ⚠
p.Ala950Val Single submitter ⚠
p.Ala971Val Single submitter ⚠
p.Ala975Val Single submitter ⚠
p.Arg1026Gln Single submitter ⚠
p.Arg1042His Single submitter ⚠
p.Arg1104Gln Single submitter ⚠
p.Arg1104Trp Single submitter ⚠
p.Arg1189Cys Single submitter ⚠
p.Arg1192Gln Single submitter ⚠
p.Arg1316Gln Single submitter ⚠
p.Arg134Gln Single submitter ⚠
p.Arg1394Cys Single submitter ⚠
p.Arg1433Cys Single submitter ⚠
p.Arg1434Gln Single submitter ⚠
p.Arg1476Leu Single submitter ⚠
p.Arg1512Trp Single submitter ⚠
p.Arg1803Gln Single submitter
p.Arg1881Gln Single submitter ⚠
p.Arg1884Trp Single submitter ⚠
p.Arg1893His Single submitter ⚠
p.Arg1901Gln Single submitter ⚠
p.Arg1917Cys Single submitter ⚠
p.Arg1996Trp Single submitter ⚠
p.Arg2074His Single submitter
p.Arg2092Trp Single submitter ⚠
p.Arg2150Trp Single submitter ⚠
p.Arg2161Cys Single submitter ⚠
p.Arg2361Leu Single submitter ⚠
p.Arg2424Gln Single submitter ⚠
p.Arg2482Trp Single submitter ⚠
p.Arg251Gln Single submitter ⚠
p.Arg2649Gln Single submitter ⚠
p.Arg2650Lys Single submitter ⚠
p.Arg313Cys Single submitter ⚠
p.Arg313His Single submitter ⚠
p.Arg323Gln Single submitter ⚠
p.Arg323Trp Single submitter ⚠
p.Arg567Trp Single submitter ⚠
p.Arg582Ser Single submitter ⚠
p.Arg589Gln Single submitter ⚠
p.Arg60Gln Single submitter ⚠
p.Arg641Gln Single submitter ⚠
p.Arg67Cys Single submitter ⚠
p.Arg737Gln Single submitter ⚠
p.Arg737Leu Single submitter ⚠
p.Arg760Trp Single submitter ⚠
p.Asn1122His Single submitter ⚠
p.Asn1125Ser Single submitter ⚠
p.Asn1242Ser Single submitter ⚠
p.Asn1293Ser Single submitter ⚠
p.Asn1308Ser Single submitter ⚠
p.Asn193Lys Single submitter ⚠
p.Asn2090Ser Single submitter ⚠
p.Asn2176Lys Single submitter ⚠
p.Asn2176Ser Single submitter ⚠
p.Asn2390Ser Single submitter ⚠
p.Asn2618Ser Single submitter ⚠
p.Asn415Lys Single submitter ⚠
p.Asn791Lys Single submitter ⚠
p.Asp1085Glu Single submitter ⚠
p.Asp1155His Single submitter ⚠
p.Asp1249Asn Single submitter ⚠
p.Asp137His Single submitter ⚠
p.Asp1389Glu Single submitter ⚠
p.Asp1428Asn Single submitter ⚠
p.Asp1583Gly Single submitter ⚠
p.Asp1647Gly Single submitter ⚠
p.Asp2016Tyr Single submitter ⚠
p.Asp2146Asn Single submitter ⚠
p.Asp2603Asn Single submitter ⚠
p.Asp2613Asn Single submitter ⚠
p.Asp2660Val Single submitter ⚠
p.Asp298Gly Single submitter ⚠
p.Asp503Glu Single submitter ⚠
p.Asp882Asn Single submitter ⚠
p.Gln1230His Single submitter ⚠
p.Gln1354Lys Single submitter ⚠
p.Gln1555Glu Single submitter ⚠
p.Gln1802His Single submitter ⚠
p.Gln2228His Single submitter ⚠
p.Gln2467Arg Single submitter ⚠
p.Gln380Arg Single submitter ⚠
p.Gln583Leu Single submitter ⚠
p.Gln71Pro Single submitter ⚠
p.Gln835His Single submitter ⚠
p.Gln837Arg Single submitter
p.Glu1120Lys Single submitter ⚠
p.Glu1181Lys Single submitter ⚠
p.Glu1232Gly Single submitter ⚠
p.Glu1300Lys Single submitter ⚠
p.Glu1372Asp Single submitter ⚠
p.Glu1702Asp Single submitter ⚠
p.Glu2164Val Single submitter ⚠
p.Glu2211Asp Single submitter ⚠
p.Glu2245Lys Single submitter ⚠
p.Glu2328Lys Single submitter ⚠
p.Glu2541Lys Single submitter ⚠
p.Glu32Ter Single submitter
p.Glu488Lys Single submitter ⚠
p.Glu607Lys Single submitter ⚠
p.Glu621Gln Single submitter ⚠
p.Glu998Gly Single submitter ⚠
p.Gly1375Ala Single submitter ⚠
p.Gly1450Arg Single submitter ⚠
p.Gly198Ser Single submitter ⚠
p.Gly2503Asp Single submitter ⚠
p.Gly2503Ser Single submitter ⚠
p.Gly351Ala Single submitter ⚠
p.Gly628Glu Single submitter ⚠
p.Gly728Cys Single submitter ⚠
p.His1751Tyr Single submitter ⚠
p.His219Gln Single submitter ⚠
p.His2236Pro Single submitter ⚠
p.His2250Gln Single submitter ⚠
p.His994Tyr Single submitter ⚠
p.Ile1141Thr Single submitter ⚠
p.Ile1204Met Single submitter ⚠
p.Ile1370Val Single submitter ⚠
p.Ile1619Leu Single submitter ⚠
p.Ile1990Met Single submitter ⚠
p.Ile2036Val Single submitter ⚠
p.Ile2140Val Single submitter ⚠
p.Ile2219Val Single submitter ⚠
p.Ile2477Thr Single submitter ⚠
p.Ile345Val Single submitter ⚠
p.Ile366Thr Single submitter
p.Ile746Val Single submitter ⚠
p.Ile74Val Single submitter ⚠
p.Ile877Leu Single submitter ⚠
p.Leu1923Ile Single submitter ⚠
p.Leu2006Phe Single submitter ⚠
p.Leu2049Val Single submitter
p.Leu2175Phe Single submitter
p.Leu2197Val Single submitter ⚠
p.Leu2256Pro Single submitter ⚠
p.Leu2287Phe Single submitter ⚠
p.Leu232Gln Single submitter ⚠
p.Leu2389Phe Single submitter ⚠
p.Leu2470Phe Single submitter ⚠
p.Leu2551Val Single submitter ⚠
p.Leu2554Pro Single submitter ⚠
p.Leu2598Ile Single submitter ⚠
p.Leu2632Phe Single submitter ⚠
p.Leu342Gln Single submitter ⚠
p.Leu494Ser Single submitter ⚠
p.Leu499Val Single submitter ⚠
p.Leu557Phe Single submitter ⚠
p.Leu808Val Single submitter ⚠
p.Leu927Pro Single submitter ⚠
p.Lys237Arg Single submitter ⚠
p.Lys430Arg Single submitter ⚠
p.Lys616Gln Single submitter ⚠
p.Lys87Met Single submitter ⚠
p.Met1040Leu Single submitter ⚠
p.Met1151Ile Single submitter ⚠
p.Met1152Ile Single submitter ⚠
p.Met1198Thr Single submitter ⚠
p.Met1418Leu Single submitter ⚠
p.Met1419Thr Single submitter ⚠
p.Met1634Leu Single submitter ⚠
p.Met1642Ile Single submitter ⚠
p.Met1807Val Single submitter ⚠
p.Met233Arg Single submitter ⚠
p.Met2395Val Single submitter ⚠
p.Met2434Thr Single submitter ⚠
p.Met2512Val Single submitter ⚠
p.Met2573Ile Single submitter ⚠
p.Met2622Ile Single submitter ⚠
p.Met335Val Single submitter ⚠
p.Met533Ile Single submitter ⚠
p.Met533Val Single submitter ⚠
p.Phe343Tyr Single submitter
p.Phe417Tyr Single submitter ⚠
p.Pro1023Arg Single submitter ⚠
p.Pro1114Ser Single submitter ⚠
p.Pro1212Leu Single submitter ⚠
p.Pro1307Ser Single submitter
p.Pro1529Ser Single submitter ⚠
p.Pro1698Leu Single submitter ⚠
p.Pro1698Ser Single submitter
p.Pro1916His Single submitter ⚠
p.Pro2252Ala Single submitter ⚠
p.Pro238Ser Single submitter ⚠
p.Pro2523His Single submitter ⚠
p.Pro2523Ser Single submitter
p.Pro2548Leu Single submitter ⚠
p.Pro2562Thr Single submitter ⚠
p.Pro2583Ser Single submitter ⚠
p.Pro554Leu Single submitter ⚠
p.Pro711Ser Single submitter ⚠
p.Pro718Ser Single submitter ⚠
p.Pro878Ser Single submitter ⚠
p.Pro895Arg Single submitter ⚠
p.Ser130Trp Single submitter ⚠
p.Ser1510Leu Single submitter ⚠
p.Ser157Cys Single submitter ⚠
p.Ser1913Phe Single submitter ⚠
p.Ser1993Thr Single submitter
p.Ser2098Leu Single submitter
p.Ser2162Arg Single submitter ⚠
p.Ser2195Leu Single submitter ⚠
p.Ser22Arg Single submitter ⚠
p.Ser2429Leu Single submitter ⚠
p.Ser2552Pro Single submitter ⚠
p.Ser332Pro Single submitter ⚠
p.Ser370Gly Single submitter ⚠
p.Ser379Asn Single submitter ⚠
p.Ser512Arg Single submitter ⚠
p.Ser744Asn Single submitter ⚠
p.Ser786Asn Single submitter ⚠
p.Ser786Gly Single submitter ⚠
p.Thr1050Met Single submitter ⚠
p.Thr120Ser Single submitter ⚠
p.Thr1629Met Single submitter ⚠
p.Thr170Met Single submitter ⚠
p.Thr1937Met Single submitter ⚠
p.Thr1943Lys Single submitter ⚠
p.Thr1994Ile Single submitter ⚠
p.Thr2009Met Single submitter ⚠
p.Thr208Met Single submitter ⚠
p.Thr2601Ile Single submitter ⚠
p.Thr265Ala Single submitter ⚠
p.Thr2671Ile Single submitter ⚠
p.Thr289Met Single submitter ⚠
p.Thr339Ile Single submitter ⚠
p.Thr458Met Single submitter ⚠
p.Thr558Ile Single submitter ⚠
p.Thr577Ile Single submitter ⚠
p.Thr587Ala Single submitter ⚠
p.Thr5Arg Single submitter ⚠
p.Thr661Ile Single submitter ⚠
p.Thr874Ser Single submitter ⚠
p.Thr990Met Single submitter ⚠
p.Tyr1205Cys Single submitter ⚠
p.Tyr1399Cys Single submitter ⚠
p.Tyr252Asn Single submitter ⚠
p.Val1057Ile Single submitter ⚠
p.Val124Ala Single submitter ⚠
p.Val1405Gly Single submitter ⚠
p.Val1495Leu Single submitter ⚠
p.Val1495Met Single submitter ⚠
p.Val1580Gly Single submitter ⚠
p.Val162Met Single submitter ⚠
p.Val1658Met Single submitter ⚠
p.Val1676Ile Single submitter ⚠
p.Val1740Met Single submitter
p.Val1804Phe Single submitter ⚠
p.Val1911Ile Single submitter ⚠
p.Val1999Met Single submitter ⚠
p.Val2007Leu Single submitter ⚠
p.Val2076Met Single submitter ⚠
p.Val215Leu Single submitter ⚠
p.Val2303Met Single submitter ⚠
p.Val2422Ile Single submitter ⚠
p.Val2491Leu Single submitter ⚠
p.Val2491Met Single submitter ⚠
p.Val362Ile Single submitter ⚠
p.Val369Ile Single submitter ⚠
p.Val373Leu Single submitter ⚠
p.Val407Ala Single submitter ⚠
p.Val421Met Single submitter ⚠
p.Val490Ala Single submitter ⚠
p.Val572Ala Single submitter ⚠
p.Val580Ile Single submitter ⚠
p.Val630Gly Single submitter ⚠