AGRN — 2448 ClinVar variants
All ClinVar germline AGRN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
35 Pathogenic · 6 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 67 Conflicting · 114 Benign · 55 Benign/Likely benign · 1018 Likely benign · 1131 Uncertain significance
Full AGRN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll AGRN variants
Pathogenic 35
- p.Gln1406fs Multiple submitters congenital myasthenic syndrome 8
- p.Gly1582Arg Multiple submitters congenital myasthenic syndrome 8
- p.Ala1077fs Single submitter congenital myasthenic syndrome 8
- p.Ala1166fs Single submitter congenital myasthenic syndrome 8
- p.Ala1325fs Single submitter congenital myasthenic syndrome 8
- p.Arg301fs Single submitter congenital myasthenic syndrome 8
- p.Arg305fs Single submitter congenital myasthenic syndrome 8
- p.Arg751Ter Single submitter congenital myasthenic syndrome 8
- p.Arg834Ter Single submitter congenital myasthenic syndrome 8
- p.Asn1828fs Single submitter congenital myasthenic syndrome 8
- p.Asp359fs Single submitter congenital myasthenic syndrome 8
- p.Asp882fs Single submitter congenital myasthenic syndrome 8
- p.Cys399Ter Single submitter congenital myasthenic syndrome 8
- p.Cys578Ter Single submitter congenital myasthenic syndrome 8
- p.Cys766fs Single submitter congenital myasthenic syndrome 8
- p.Gln1242Ter Single submitter congenital myasthenic syndrome 8
- p.Gln1327fs Single submitter congenital myasthenic syndrome 8
- p.Glu1853fs Single submitter congenital myasthenic syndrome 8
- p.Glu347fs Single submitter congenital myasthenic syndrome 8
- p.Glu668Ter Single submitter congenital myasthenic syndrome 8
- p.Gly371fs Single submitter congenital myasthenic syndrome 8
- p.Leu298fs Single submitter congenital myasthenic syndrome 8
- p.Ser1060fs Single submitter congenital myasthenic syndrome 8
- p.Ser557fs Single submitter congenital myasthenic syndrome 8
- p.Thr1902fs Single submitter congenital myasthenic syndrome 8
- p.Trp1463Ter Single submitter congenital myasthenic syndrome 8
- p.Trp441Ter Single submitter Abnormality of the musculature
- p.Tyr123Ter Single submitter congenital myasthenic syndrome 8
- p.Tyr1918fs Single submitter congenital myasthenic syndrome 8
- p.Tyr425Ter Single submitter congenital myasthenic syndrome 8
- p.Val182fs Single submitter congenital myasthenic syndrome 8
- p.Val369fs Single submitter congenital myasthenic syndrome 8
- c.1385-42G>C No assertion criteria congenital myasthenic syndrome 8
- p.Gln353Ter No assertion criteria congenital myasthenic syndrome 8
- p.Gly1709Arg No assertion criteria congenital myasthenic syndrome 8
Pathogenic/Likely pathogenic 6
- c.1177+4_1177+50del Multiple submitters presynaptic congenital myasthenic syndrome
- p.Arg1671Ter Multiple submitters congenital myasthenic syndrome 8
- p.Gly1002fs Multiple submitters congenital myasthenic syndrome 8
- p.Gly1675Ser Multiple submitters congenital myasthenic syndrome 8
- p.Leu223fs Multiple submitters congenital myasthenic syndrome 8
- p.Ser194fs Multiple submitters congenital myasthenic syndrome 8
Likely pathogenic 22
- c.3632-1G>C Multiple submitters congenital myasthenic syndrome 8
- c.1384+2T>C Single submitter congenital myasthenic syndrome 8
- c.1798+1G>T Single submitter congenital myasthenic syndrome 8
- c.1799-1G>A Single submitter congenital myasthenic syndrome 8
- c.2371+1G>T Single submitter congenital myasthenic syndrome 8
- c.3250+1G>A Single submitter congenital myasthenic syndrome 8
- c.3632-2_3632-1delinsC Single submitter congenital myasthenic syndrome 8
- c.3632-2del Single submitter congenital myasthenic syndrome 8
- c.464-2A>G Single submitter congenital myasthenic syndrome 8
- c.4745-47_4753del Single submitter congenital myasthenic syndrome 8
- c.5254-1_5261del Single submitter congenital myasthenic syndrome 8
- c.5876+1G>A Single submitter congenital myasthenic syndrome 8
- c.952+1_952+3del Single submitter congenital myasthenic syndrome 8
- p.Arg1541Ter Single submitter
- p.Asn1641fs Single submitter congenital myasthenic syndrome 8
- p.Glu53del Single submitter fetal akinesia deformation sequence
- p.Leu1759Pro Single submitter congenital myasthenic syndrome 8
- p.Ser1772fs Single submitter
- p.Thr1343fs Single submitter
- p.Val1727Phe Single submitter congenital myasthenic syndrome 8
- p.Ala1768Thr No assertion criteria congenital myasthenic syndrome 8
- p.Val2022del No assertion criteria congenital myasthenic syndrome 8
Conflicting classifications of pathogenicity 67
- c.3752-6C>T Single submitter congenital myasthenic syndrome 8
- p.Ala1012Pro Single submitter Inborn genetic diseases
- p.Ala1364Thr Single submitter Inborn genetic diseases
- p.Ala1912Val Single submitter Inborn genetic diseases
- p.Ala2008Thr Single submitter congenital myasthenic syndrome 8
- p.Ala493Val Single submitter congenital myasthenic syndrome 8
- p.Ala512Thr Single submitter Inborn genetic diseases
- p.Ala897Val Single submitter congenital myasthenic syndrome 8
- p.Ala933Val Single submitter Inborn genetic diseases
- p.Arg1023Gln Single submitter congenital myasthenic syndrome 8
- p.Arg1580His Single submitter Inborn genetic diseases
- p.Arg1604His Single submitter Inborn genetic diseases
- p.Arg1671Gln Single submitter Inborn genetic diseases
- p.Arg1699Cys Single submitter congenital myasthenic syndrome 8
- p.Arg1699His Single submitter congenital myasthenic syndrome 8
- p.Arg1796His Single submitter Inborn genetic diseases
- p.Arg1820Gln Single submitter congenital myasthenic syndrome 8
- p.Arg400Gln Single submitter congenital myasthenic syndrome 8
- p.Arg451His Single submitter Inborn genetic diseases
- p.Arg524Trp Single submitter congenital myasthenic syndrome 8
- p.Arg622Trp Single submitter congenital myasthenic syndrome 8
- p.Arg740Gln Single submitter Inborn genetic diseases
- p.Arg834Gln Single submitter congenital myasthenic syndrome 8
- p.Asn1970Ser Single submitter neurodevelopmental disorder
- p.Asn250Thr Single submitter congenital myasthenic syndrome 8
- p.Asp1492= Single submitter congenital myasthenic syndrome 8
- p.Asp1785Asn Single submitter congenital myasthenic syndrome 8
- p.Cys643= Single submitter congenital myasthenic syndrome 8
- p.Gln1565Arg Single submitter congenital myasthenic syndrome 8
- p.Gln1593_Cys1597del Single submitter congenital myasthenic syndrome 8
- p.Gln61His Single submitter congenital myasthenic syndrome 8
- p.Glu1547Lys Single submitter congenital myasthenic syndrome 8
- p.Glu1614Lys Single submitter congenital myasthenic syndrome 8
- p.Gly1002Ser Single submitter congenital myasthenic syndrome 8
- p.Gly1320Arg Single submitter congenital myasthenic syndrome 8
- p.Gly2010Ser Single submitter Inborn genetic diseases
- p.Gly294Ser Single submitter Inborn genetic diseases
- p.Gly719Ser Single submitter congenital myasthenic syndrome 8
- p.Gly802Ser Single submitter congenital myasthenic syndrome 8
- p.Gly853= Single submitter congenital myasthenic syndrome 8
- p.Gly883Ser Single submitter Inborn genetic diseases
- p.His1244= Single submitter congenital myasthenic syndrome 8
- p.His128Gln Single submitter congenital myasthenic syndrome 8
- p.Leu562Ser Single submitter Inborn genetic diseases
- p.Lys199del Single submitter congenital myasthenic syndrome 8
- p.Phe1623Leu Single submitter Inborn genetic diseases
- p.Pro1001Thr Single submitter congenital myasthenic syndrome 8
- p.Pro1019Leu Single submitter Inborn genetic diseases
- p.Pro1240Leu Single submitter congenital myasthenic syndrome 8
- p.Pro1324Leu Single submitter congenital myasthenic syndrome 8
- p.Pro1358Leu Single submitter Inborn genetic diseases
- p.Pro1946Leu Single submitter AGRN-related disorder
- p.Pro465Leu Single submitter congenital myasthenic syndrome 8
- p.Pro759Leu Single submitter Inborn genetic diseases
- p.Thr1044Met Single submitter Inborn genetic diseases
- p.Thr1118Lys Single submitter congenital myasthenic syndrome 8
- p.Thr1354Asn Single submitter congenital myasthenic syndrome 8
- p.Thr267Met Single submitter Inborn genetic diseases
- p.Thr518Met Single submitter congenital myasthenic syndrome 8
- p.Thr769Met Single submitter Inborn genetic diseases
- p.Val1365Ile Single submitter Inborn genetic diseases
- p.Val1525Ile Single submitter congenital myasthenic syndrome 8
- p.Val2034Ile Single submitter congenital myasthenic syndrome 8
- p.Val23Leu Single submitter congenital myasthenic syndrome 8
- p.Val251Ala Single submitter Inborn genetic diseases
- p.Val631Met Single submitter Inborn genetic diseases
- p.Val855Met Single submitter Inborn genetic diseases
Benign 114
- c.1177+121G>C Multiple submitters
- c.1178-6T>C Multiple submitters congenital myasthenic syndrome 8
- c.1384+238C>T Multiple submitters congenital myasthenic syndrome 8
- c.1384+28G>A Multiple submitters congenital myasthenic syndrome 8
- c.1385-15_1385-14del Multiple submitters congenital myasthenic syndrome 8
- c.1999+34C>T Multiple submitters
- c.202-13A>G Multiple submitters congenital myasthenic syndrome 8
- c.2149-24G>A Multiple submitters
- c.2254+16G>A Multiple submitters congenital myasthenic syndrome 8
- c.2255-81G>A Multiple submitters congenital myasthenic syndrome 8
- c.2537-26A>G Multiple submitters congenital myasthenic syndrome 8
- c.3388+145C>T Multiple submitters
- c.3388+147C>T Multiple submitters
- c.3388+176T>C Multiple submitters
- c.3389-134C>T Multiple submitters
- c.3517-12T>C Multiple submitters congenital myasthenic syndrome 8
- c.4105+180C>A Multiple submitters
- c.4106-145G>A Multiple submitters
- c.4106-186C>T Multiple submitters
- c.4106-214C>T Multiple submitters
- c.4106-231G>A Multiple submitters
- c.4106-45A>G Multiple submitters
- c.4106-75_4106-74del Multiple submitters congenital myasthenic syndrome 8
- c.4298+17C>T Multiple submitters congenital myasthenic syndrome 8
- c.4514+16G>C Multiple submitters congenital myasthenic syndrome 8
- c.4514+57A>G Multiple submitters
- c.463+56G>T Multiple submitters
- c.464-240A>C Multiple submitters
- c.4745-17C>T Multiple submitters congenital myasthenic syndrome 8
- c.4745-44C>T Multiple submitters
- c.4879+29G>T Multiple submitters
- c.4879+30G>T Multiple submitters
- c.4879+32G>A Multiple submitters
- c.4879+33G>A Multiple submitters
- c.4879+43T>C Multiple submitters
- c.4977-10A>G Multiple submitters congenital myasthenic syndrome 8
- c.511+132G>A Multiple submitters
- c.5141+28G>T Multiple submitters
- c.5141+67G>A Multiple submitters
- c.5141+67G>C Multiple submitters
- c.5253+68C>T Multiple submitters
- c.5253+69C>T Multiple submitters
- c.5254-190C>T Multiple submitters congenital myasthenic syndrome 8
- c.5651+5C>T Multiple submitters congenital myasthenic syndrome 8
- c.5652-201G>C Multiple submitters congenital myasthenic syndrome 8
- c.5876+104G>A Multiple submitters
- c.728-15A>C Multiple submitters congenital myasthenic syndrome 8
- c.728-39C>A Multiple submitters
- c.*156C>T Multiple submitters congenital myasthenic syndrome 8
- c.*172G>A Multiple submitters
- c.*19C>T Multiple submitters congenital myasthenic syndrome 8
- c.*56T>C Multiple submitters
- p.Ala1255= Multiple submitters congenital myasthenic syndrome 8
- p.Arg1580= Multiple submitters congenital myasthenic syndrome 8
- p.Arg4Pro Multiple submitters congenital myasthenic syndrome 8
- p.Asp1631= Multiple submitters congenital myasthenic syndrome 8
- p.Asp2019= Multiple submitters congenital myasthenic syndrome 8
- p.Asp87= Multiple submitters congenital myasthenic syndrome 8
- p.Gln1135Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gln1889= Multiple submitters congenital myasthenic syndrome 8
- p.Gln353Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gln852Arg Multiple submitters congenital myasthenic syndrome 8
- p.Glu728Val Multiple submitters congenital myasthenic syndrome 8
- p.Gly1786= Multiple submitters congenital myasthenic syndrome 8
- p.Gly243= Multiple submitters congenital myasthenic syndrome 8
- p.Phe1186= Multiple submitters congenital myasthenic syndrome 8
- p.Phe1690= Multiple submitters congenital myasthenic syndrome 8
- p.Pro1324= Multiple submitters congenital myasthenic syndrome 8
- p.Pro15= Multiple submitters congenital myasthenic syndrome 8
- p.Ser1022= Multiple submitters congenital myasthenic syndrome 8
- p.Thr1387= Multiple submitters congenital myasthenic syndrome 8
- p.Thr1866= Multiple submitters congenital myasthenic syndrome 8
- p.Val1666Ile Multiple submitters congenital myasthenic syndrome 8
- c.1177+109_1178-99del Single submitter
- c.1177+20dup Single submitter congenital myasthenic syndrome 8
- c.1603+19dup Single submitter congenital myasthenic syndrome 8
- c.2254+21dup Single submitter congenital myasthenic syndrome 8
- c.2254+258C>T Single submitter
- c.2254+71C>T Single submitter
- c.2255-265C>T Single submitter
- c.2371+11G>A Single submitter congenital myasthenic syndrome 8
- c.2536+57del Single submitter
- c.2537-14G>A Single submitter congenital myasthenic syndrome 8
- c.3388+107A>G Single submitter
- c.3388+125T>C Single submitter
- c.3516+14G>A Single submitter congenital myasthenic syndrome 8
- c.4106-78dup Single submitter
- c.4106-81_4106-78del Single submitter
- c.4106-88_4106-78del Single submitter
- c.4298+21del Single submitter congenital myasthenic syndrome 8
- c.4298+55dup Single submitter
- c.4298+56_4298+57del Single submitter
- c.4298+56del Single submitter
- c.4298+7G>A Single submitter congenital myasthenic syndrome 8
- c.463+19G>A Single submitter congenital myasthenic syndrome 8
- c.464-17G>A Single submitter congenital myasthenic syndrome 8
- c.4879+41del Single submitter
- c.4976+10dup Single submitter congenital myasthenic syndrome 8
- c.4976+18del Single submitter congenital myasthenic syndrome 8
- c.511+211C>T Single submitter
- c.511+84G>A Single submitter
- c.512-264C>T Single submitter
- c.5141+39T>C Single submitter
- c.5253+18C>G Single submitter congenital myasthenic syndrome 8
- c.5876+143G>A Single submitter
- c.728-125C>A Single submitter
- c.728-51_728-49del Single submitter
- c.-340T>C Single submitter
- p.Ala605= Single submitter congenital myasthenic syndrome 8
- p.His1013= Single submitter congenital myasthenic syndrome 8
- p.Phe1214= Single submitter congenital myasthenic syndrome 8
- p.Pro500= Single submitter congenital myasthenic syndrome 8
- p.Ser1092= Single submitter congenital myasthenic syndrome 8
- p.Thr1913= Single submitter congenital myasthenic syndrome 8
Benign/Likely benign 55
- c.1603+10G>A Multiple submitters congenital myasthenic syndrome 8
- c.1603+19G>A Multiple submitters congenital myasthenic syndrome 8
- c.2681-16C>G Multiple submitters congenital myasthenic syndrome 8
- c.2805+7G>A Multiple submitters congenital myasthenic syndrome 8
- c.3516+10G>C Multiple submitters congenital myasthenic syndrome 8
- c.4298+11A>T Multiple submitters congenital myasthenic syndrome 8
- c.4298+6_4298+88del Multiple submitters congenital myasthenic syndrome 8
- c.4298+6C>T Multiple submitters congenital myasthenic syndrome 8
- c.5254-5C>T Multiple submitters congenital myasthenic syndrome 8
- p.Ala1155= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1273= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1441= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1514Thr Multiple submitters congenital myasthenic syndrome 8
- p.Ala193= Multiple submitters congenital myasthenic syndrome 8
- p.Ala375Ser Multiple submitters congenital myasthenic syndrome 8
- p.Ala756Thr Multiple submitters congenital myasthenic syndrome 8
- p.Arg1190= Multiple submitters congenital myasthenic syndrome 8
- p.Arg1322Trp Multiple submitters congenital myasthenic syndrome 8
- p.Arg1380His Multiple submitters congenital myasthenic syndrome 8
- p.Arg1429Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1734His Multiple submitters congenital myasthenic syndrome 8
- p.Asp246= Multiple submitters congenital myasthenic syndrome 8
- p.Asp894= Multiple submitters congenital myasthenic syndrome 8
- p.Cys1613= Multiple submitters congenital myasthenic syndrome 8
- p.Gln1565His Multiple submitters congenital myasthenic syndrome 8
- p.Gln689= Multiple submitters congenital myasthenic syndrome 8
- p.Glu1883Lys Multiple submitters congenital myasthenic syndrome 8
- p.Glu665Lys Multiple submitters congenital myasthenic syndrome 8
- p.Gly1675= Multiple submitters congenital myasthenic syndrome 8
- p.Gly1741= Multiple submitters congenital myasthenic syndrome 8
- p.Gly510Ser Multiple submitters congenital myasthenic syndrome 8
- p.Gly675= Multiple submitters congenital myasthenic syndrome 8
- p.Gly802= Multiple submitters congenital myasthenic syndrome 8
- p.Gly819= Multiple submitters congenital myasthenic syndrome 8
- p.His2025Arg Multiple submitters Inborn genetic diseases
- p.Ile836= Multiple submitters congenital myasthenic syndrome 8
- p.Leu1088Phe Multiple submitters congenital myasthenic syndrome 8
- p.Leu1966= Multiple submitters congenital myasthenic syndrome 8
- p.Phe1377= Multiple submitters congenital myasthenic syndrome 8
- p.Phe1784= Multiple submitters congenital myasthenic syndrome 8
- p.Pro1289Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1451Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1938= Multiple submitters congenital myasthenic syndrome 8
- p.Pro759= Multiple submitters congenital myasthenic syndrome 8
- p.Pro998Leu Multiple submitters congenital myasthenic syndrome 8
- p.Ser1822= Multiple submitters congenital myasthenic syndrome 8
- p.Ser1909Thr Multiple submitters congenital myasthenic syndrome 8
- p.Thr1026Asn Multiple submitters congenital myasthenic syndrome 8
- p.Thr1095= Multiple submitters congenital myasthenic syndrome 8
- p.Thr1484= Multiple submitters congenital myasthenic syndrome 8
- p.Thr1944= Multiple submitters congenital myasthenic syndrome 8
- p.Thr258Ile Multiple submitters congenital myasthenic syndrome 8
- p.Thr478= Multiple submitters congenital myasthenic syndrome 8
- p.Val1881= Multiple submitters congenital myasthenic syndrome 8
- p.Val554Met Multiple submitters congenital myasthenic syndrome 8
Likely benign 1018
Showing the top 300 by review status; the full set is in the sitemap.
- c.1177+71G>T Multiple submitters
- c.1178-42G>A Multiple submitters
- c.1178-7G>A Multiple submitters congenital myasthenic syndrome 8
- c.1999+18G>A Multiple submitters congenital myasthenic syndrome 8
- c.201+138G>T Multiple submitters
- c.2148+8C>G Multiple submitters congenital myasthenic syndrome 8
- c.2255-101G>A Multiple submitters
- c.2371+12A>G Multiple submitters congenital myasthenic syndrome 8
- c.2536+45C>T Multiple submitters
- c.2681-4C>T Multiple submitters congenital myasthenic syndrome 8
- c.3388+19G>A Multiple submitters congenital myasthenic syndrome 8
- c.3388+66C>T Multiple submitters
- c.3516+8G>A Multiple submitters congenital myasthenic syndrome 8
- c.3517-47G>A Multiple submitters
- c.3752-5G>A Multiple submitters congenital myasthenic syndrome 8
- c.4298+21_4298+55del Multiple submitters congenital myasthenic syndrome 8
- c.4298+50G>T Multiple submitters
- c.4514+29C>T Multiple submitters
- c.4514+50C>G Multiple submitters
- c.464-202G>A Multiple submitters
- c.4879+17T>A Multiple submitters congenital myasthenic syndrome 8
- c.4879+92G>A Multiple submitters
- c.4976+44G>A Multiple submitters
- c.5142-50C>T Multiple submitters
- c.5254-173G>A Multiple submitters
- c.5370+11G>A Multiple submitters congenital myasthenic syndrome 8
- c.5370+9G>A Multiple submitters congenital myasthenic syndrome 8
- c.5564-11C>T Multiple submitters congenital myasthenic syndrome 8
- c.5651+14C>T Multiple submitters congenital myasthenic syndrome 8
- c.5651+58C>T Multiple submitters
- c.5877-17C>A Multiple submitters congenital myasthenic syndrome 8
- p.Ala1372= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1424= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1446= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1506= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1711= Multiple submitters congenital myasthenic syndrome 8
- p.Ala1779= Multiple submitters congenital myasthenic syndrome 8
- p.Ala2033= Multiple submitters congenital myasthenic syndrome 8
- p.Ala403= Multiple submitters congenital myasthenic syndrome 8
- p.Ala519= Multiple submitters congenital myasthenic syndrome 8
- p.Ala889= Multiple submitters congenital myasthenic syndrome 8
- p.Arg1178Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1309Gln Multiple submitters Inborn genetic diseases
- p.Arg1656= Multiple submitters congenital myasthenic syndrome 8
- p.Arg2040Gln Multiple submitters Inborn genetic diseases
- p.Arg225= Multiple submitters congenital myasthenic syndrome 8
- p.Arg400Trp Multiple submitters congenital myasthenic syndrome 8
- p.Asn932= Multiple submitters congenital myasthenic syndrome 8
- p.Asp1122= Multiple submitters congenital myasthenic syndrome 8
- p.Asp1174= Multiple submitters congenital myasthenic syndrome 8
- p.Asp1490= Multiple submitters congenital myasthenic syndrome 8
- p.Asp1863= Multiple submitters congenital myasthenic syndrome 8
- p.Asp99= Multiple submitters
- p.Gly1535= Multiple submitters congenital myasthenic syndrome 8
- p.His1462= Multiple submitters congenital myasthenic syndrome 8
- p.Leu1805= Multiple submitters congenital myasthenic syndrome 8
- p.Leu237= Multiple submitters congenital myasthenic syndrome 8
- p.Lys75= Multiple submitters congenital myasthenic syndrome 8
- p.Phe833= Multiple submitters congenital myasthenic syndrome 8
- p.Pro1001= Multiple submitters congenital myasthenic syndrome 8
- p.Pro1005= Multiple submitters congenital myasthenic syndrome 8
- p.Pro1499= Multiple submitters congenital myasthenic syndrome 8
- p.Pro1577= Multiple submitters congenital myasthenic syndrome 8
- p.Pro165Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro166= Multiple submitters congenital myasthenic syndrome 8
- p.Pro1834Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1946= Multiple submitters congenital myasthenic syndrome 8
- p.Pro396= Multiple submitters congenital myasthenic syndrome 8
- p.Pro427= Multiple submitters congenital myasthenic syndrome 8
- p.Pro460= Multiple submitters congenital myasthenic syndrome 8
- p.Pro465= Multiple submitters congenital myasthenic syndrome 8
- p.Pro630= Multiple submitters congenital myasthenic syndrome 8
- p.Pro757= Multiple submitters congenital myasthenic syndrome 8
- p.Ser634= Multiple submitters congenital myasthenic syndrome 8
- p.Ser800= Multiple submitters congenital myasthenic syndrome 8
- p.Thr142= Multiple submitters congenital myasthenic syndrome 8
- p.Thr1975= Multiple submitters congenital myasthenic syndrome 8
- p.Thr1983= Multiple submitters Inborn genetic diseases
- p.Thr863= Multiple submitters Inborn genetic diseases
- p.Val369= Multiple submitters congenital myasthenic syndrome 8
- c.1177+11C>A Single submitter congenital myasthenic syndrome 8
- c.1177+12C>T Single submitter congenital myasthenic syndrome 8
- c.1177+13C>T Single submitter congenital myasthenic syndrome 8
- c.1177+15C>G Single submitter congenital myasthenic syndrome 8
- c.1177+15C>T Single submitter congenital myasthenic syndrome 8
- c.1177+16G>A Single submitter congenital myasthenic syndrome 8
- c.1177+7G>A Single submitter congenital myasthenic syndrome 8
- c.1177+91_1177+95del Single submitter
- c.1177+98_1178-115del Single submitter
- c.1178-11C>T Single submitter congenital myasthenic syndrome 8
- c.1178-20C>T Single submitter congenital myasthenic syndrome 8
- c.1178-7_1178-6inv Single submitter congenital myasthenic syndrome 8
- c.1384+11C>T Single submitter congenital myasthenic syndrome 8
- c.1384+11dup Single submitter congenital myasthenic syndrome 8
- c.1384+12G>A Single submitter congenital myasthenic syndrome 8
- c.1384+12G>C Single submitter congenital myasthenic syndrome 8
- c.1384+16T>A Single submitter congenital myasthenic syndrome 8
- c.1384+7G>A Single submitter congenital myasthenic syndrome 8
- c.1384+7G>C Single submitter congenital myasthenic syndrome 8
- c.1385-13G>A Single submitter congenital myasthenic syndrome 8
- c.1385-16_1385-15del Single submitter congenital myasthenic syndrome 8
- c.1385-169G>A Single submitter
- c.1385-18C>G Single submitter congenital myasthenic syndrome 8
- c.1385-18C>T Single submitter congenital myasthenic syndrome 8
- c.1385-19G>A Single submitter congenital myasthenic syndrome 8
- c.1385-9C>T Single submitter congenital myasthenic syndrome 8
- c.1603+16G>A Single submitter congenital myasthenic syndrome 8
- c.1603+7G>T Single submitter congenital myasthenic syndrome 8
- c.1604-17T>C Single submitter congenital myasthenic syndrome 8
- c.1604-19G>A Single submitter congenital myasthenic syndrome 8
- c.1604-19G>C Single submitter congenital myasthenic syndrome 8
- c.1604-4C>A Single submitter congenital myasthenic syndrome 8
- c.1604-6C>T Single submitter congenital myasthenic syndrome 8
- c.1604-9C>T Single submitter congenital myasthenic syndrome 8
- c.1798+13C>T Single submitter congenital myasthenic syndrome 8
- c.1798+9G>A Single submitter congenital myasthenic syndrome 8
- c.1799-4G>A Single submitter congenital myasthenic syndrome 8
- c.1799-7C>T Single submitter
- c.1999+14C>T Single submitter congenital myasthenic syndrome 8
- c.1999+15G>A Single submitter congenital myasthenic syndrome 8
- c.1999+20C>G Single submitter congenital myasthenic syndrome 8
- c.1999+8G>A Single submitter congenital myasthenic syndrome 8
- c.2000-17G>T Single submitter congenital myasthenic syndrome 8
- c.2000-4G>A Single submitter congenital myasthenic syndrome 8
- c.2000-5C>G Single submitter congenital myasthenic syndrome 8
- c.2000-5C>T Single submitter congenital myasthenic syndrome 8
- c.201+10C>T Single submitter
- c.201+12C>T Single submitter congenital myasthenic syndrome 8
- c.201+17C>T Single submitter congenital myasthenic syndrome 8
- c.201+18C>G Single submitter congenital myasthenic syndrome 8
- c.201+18C>T Single submitter congenital myasthenic syndrome 8
- c.201+19C>A Single submitter congenital myasthenic syndrome 8
- c.201+19C>G Single submitter congenital myasthenic syndrome 8
- c.201+19C>T Single submitter congenital myasthenic syndrome 8
- c.202-17C>T Single submitter congenital myasthenic syndrome 8
- c.202-326C>T Single submitter
- c.202-6C>T Single submitter congenital myasthenic syndrome 8
- c.2148+13C>T Single submitter congenital myasthenic syndrome 8
- c.2148+14C>T Single submitter congenital myasthenic syndrome 8
- c.2149-13C>T Single submitter congenital myasthenic syndrome 8
- c.2149-18A>G Single submitter congenital myasthenic syndrome 8
- c.2149-4C>T Single submitter congenital myasthenic syndrome 8
- c.2254+118G>A Single submitter
- c.2254+15C>T Single submitter congenital myasthenic syndrome 8
- c.2254+16G>C Single submitter congenital myasthenic syndrome 8
- c.2254+18G>C Single submitter congenital myasthenic syndrome 8
- c.2254+19G>A Single submitter congenital myasthenic syndrome 8
- c.2254+20G>A Single submitter congenital myasthenic syndrome 8
- c.2254+7C>T Single submitter congenital myasthenic syndrome 8
- c.2254+8G>A Single submitter congenital myasthenic syndrome 8
- c.2255-11C>T Single submitter congenital myasthenic syndrome 8
- c.2255-16G>A Single submitter congenital myasthenic syndrome 8
- c.2255-16G>T Single submitter congenital myasthenic syndrome 8
- c.2255-17C>T Single submitter congenital myasthenic syndrome 8
- c.2255-4G>A Single submitter congenital myasthenic syndrome 8
- c.2371+10T>C Single submitter
- c.2371+13G>A Single submitter congenital myasthenic syndrome 8
- c.2371+39C>T Single submitter
- c.2372-12C>A Single submitter congenital myasthenic syndrome 8
- c.2372-7C>T Single submitter congenital myasthenic syndrome 8
- c.2536+13G>A Single submitter congenital myasthenic syndrome 8
- c.2536+14C>T Single submitter congenital myasthenic syndrome 8
- c.2537-11T>A Single submitter congenital myasthenic syndrome 8
- c.2537-13A>G Single submitter congenital myasthenic syndrome 8
- c.2537-15C>G Single submitter congenital myasthenic syndrome 8
- c.2537-15C>T Single submitter congenital myasthenic syndrome 8
- c.2537-4A>C Single submitter congenital myasthenic syndrome 8
- c.2680+10G>A Single submitter congenital myasthenic syndrome 8
- c.2680+15G>C Single submitter congenital myasthenic syndrome 8
- c.2680+16C>T Single submitter congenital myasthenic syndrome 8
- c.2680+17G>A Single submitter congenital myasthenic syndrome 8
- c.2680+19T>C Single submitter congenital myasthenic syndrome 8
- c.2681-10C>T Single submitter congenital myasthenic syndrome 8
- c.2681-18C>T Single submitter congenital myasthenic syndrome 8
- c.2681-7G>T Single submitter congenital myasthenic syndrome 8
- c.2681-9G>A Single submitter congenital myasthenic syndrome 8
- c.2805+12G>A Single submitter congenital myasthenic syndrome 8
- c.2805+13G>C Single submitter congenital myasthenic syndrome 8
- c.2805+17G>A Single submitter congenital myasthenic syndrome 8
- c.2805+7G>T Single submitter congenital myasthenic syndrome 8
- c.2805+9T>C Single submitter congenital myasthenic syndrome 8
- c.2805+9T>G Single submitter congenital myasthenic syndrome 8
- c.2806-12T>C Single submitter congenital myasthenic syndrome 8
- c.2806-14G>A Single submitter congenital myasthenic syndrome 8
- c.2806-15T>C Single submitter congenital myasthenic syndrome 8
- c.2806-18C>T Single submitter congenital myasthenic syndrome 8
- c.2806-4C>T Single submitter congenital myasthenic syndrome 8
- c.2806-5C>T Single submitter congenital myasthenic syndrome 8
- c.2806-6C>T Single submitter congenital myasthenic syndrome 8
- c.2911+12C>T Single submitter congenital myasthenic syndrome 8
- c.2911+13G>A Single submitter congenital myasthenic syndrome 8
- c.2912-18A>C Single submitter congenital myasthenic syndrome 8
- c.3251-10G>A Single submitter congenital myasthenic syndrome 8
- c.3251-11C>T Single submitter congenital myasthenic syndrome 8
- c.3251-12G>A Single submitter congenital myasthenic syndrome 8
- c.3251-12G>C Single submitter congenital myasthenic syndrome 8
- c.3251-13C>T Single submitter congenital myasthenic syndrome 8
- c.3388+10C>T Single submitter congenital myasthenic syndrome 8
- c.3388+11G>A Single submitter congenital myasthenic syndrome 8
- c.3388+135G>T Single submitter
- c.3389-16T>C Single submitter congenital myasthenic syndrome 8
- c.3389-7C>G Single submitter congenital myasthenic syndrome 8
- c.3516+12G>A Single submitter congenital myasthenic syndrome 8
- c.3516+13C>T Single submitter congenital myasthenic syndrome 8
- c.3516+19C>A Single submitter congenital myasthenic syndrome 8
- c.3516+7C>T Single submitter congenital myasthenic syndrome 8
- c.3516+9G>A Single submitter congenital myasthenic syndrome 8
- c.3517-10C>T Single submitter congenital myasthenic syndrome 8
- c.3517-18G>C Single submitter congenital myasthenic syndrome 8
- c.3517-6C>T Single submitter congenital myasthenic syndrome 8
- c.3517-7del Single submitter congenital myasthenic syndrome 8
- c.3631+10G>C Single submitter congenital myasthenic syndrome 8
- c.3631+7C>T Single submitter congenital myasthenic syndrome 8
- c.3631+8C>T Single submitter congenital myasthenic syndrome 8
- c.3632-12C>G Single submitter congenital myasthenic syndrome 8
- c.3632-16G>C Single submitter congenital myasthenic syndrome 8
- c.3632-4C>G Single submitter congenital myasthenic syndrome 8
- c.3751+10A>G Single submitter congenital myasthenic syndrome 8
- c.3751+16C>T Single submitter congenital myasthenic syndrome 8
- c.3751+17G>C Single submitter congenital myasthenic syndrome 8
- c.3751+19G>A Single submitter congenital myasthenic syndrome 8
- c.3751+20C>A Single submitter congenital myasthenic syndrome 8
- c.3751+7G>A Single submitter congenital myasthenic syndrome 8
- c.3752-12C>G Single submitter congenital myasthenic syndrome 8
- c.3752-19C>T Single submitter congenital myasthenic syndrome 8
- c.3752-51C>T Single submitter
- c.4105+25G>A Single submitter
- c.4106-11G>A Single submitter congenital myasthenic syndrome 8
- c.4106-12C>T Single submitter congenital myasthenic syndrome 8
- c.4106-14G>T Single submitter congenital myasthenic syndrome 8
- c.4106-16C>T Single submitter congenital myasthenic syndrome 8
- c.4106-18C>T Single submitter congenital myasthenic syndrome 8
- c.4298+16_4298+17dup Single submitter congenital myasthenic syndrome 8
- c.4298+16A>G Single submitter congenital myasthenic syndrome 8
- c.4298+16del Single submitter congenital myasthenic syndrome 8
- c.4298+18G>A Single submitter congenital myasthenic syndrome 8
- c.4298+18G>C Single submitter congenital myasthenic syndrome 8
- c.4298+18G>T Single submitter congenital myasthenic syndrome 8
- c.4298+21_4298+22insGGGGAGGGGGGG Single submitter congenital myasthenic syndrome 8
- c.4298+21_4298+22insGGGGGAGGGGGGGG Single submitter congenital myasthenic syndrome 8
- c.4298+22_4298+58del Single submitter congenital myasthenic syndrome 8
- c.4298+41_4298+88del Single submitter congenital myasthenic syndrome 8
- c.4298+54_4298+55dup Single submitter
- c.4298+55_4298+56insGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG Single submitter congenital myasthenic syndrome 8
- c.4298+55_4298+56insGGGGGAGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGG Single submitter congenital myasthenic syndrome 8
- c.4298+55del Single submitter
- c.4298+7GGGGA[3] Single submitter congenital myasthenic syndrome 8
- c.4298+9G>A Single submitter congenital myasthenic syndrome 8
- c.4298+9G>C Single submitter congenital myasthenic syndrome 8
- c.4299-11C>T Single submitter congenital myasthenic syndrome 8
- c.4299-14G>C Single submitter congenital myasthenic syndrome 8
- c.4299-5C>G Single submitter congenital myasthenic syndrome 8
- c.4299-6C>T Single submitter congenital myasthenic syndrome 8
- c.4514+10_4514+29del Single submitter congenital myasthenic syndrome 8
- c.4514+12G>A Single submitter congenital myasthenic syndrome 8
- c.4514+15G>A Single submitter congenital myasthenic syndrome 8
- c.4514+16_4514+17delinsCA Single submitter congenital myasthenic syndrome 8
- c.4514+16G>A Single submitter congenital myasthenic syndrome 8
- c.4514+19G>A Single submitter congenital myasthenic syndrome 8
- c.4514+20G>A Single submitter congenital myasthenic syndrome 8
- c.4514+8C>T Single submitter congenital myasthenic syndrome 8
- c.4515-10C>T Single submitter congenital myasthenic syndrome 8
- c.4515-11C>T Single submitter congenital myasthenic syndrome 8
- c.4515-14C>T Single submitter congenital myasthenic syndrome 8
- c.4515-17G>A Single submitter congenital myasthenic syndrome 8
- c.4515-20G>A Single submitter congenital myasthenic syndrome 8
- c.463+10G>T Single submitter congenital myasthenic syndrome 8
- c.463+15G>A Single submitter congenital myasthenic syndrome 8
- c.463+16C>T Single submitter congenital myasthenic syndrome 8
- c.463+18C>T Single submitter congenital myasthenic syndrome 8
- c.463+20_463+28del Single submitter congenital myasthenic syndrome 8
- c.463+8G>C Single submitter congenital myasthenic syndrome 8
- c.464-14T>G Single submitter congenital myasthenic syndrome 8
- c.464-16A>T Single submitter congenital myasthenic syndrome 8
- c.464-4C>T Single submitter congenital myasthenic syndrome 8
- c.464-7C>T Single submitter congenital myasthenic syndrome 8
- c.4744+14C>T Single submitter congenital myasthenic syndrome 8
- c.4744+15G>A Single submitter congenital myasthenic syndrome 8
- c.4744+15G>C Single submitter congenital myasthenic syndrome 8
- c.4744+16G>A Single submitter congenital myasthenic syndrome 8
- c.4744+19C>T Single submitter congenital myasthenic syndrome 8
- c.4744+20G>A Single submitter congenital myasthenic syndrome 8
- c.4744+6_4744+26dup Single submitter congenital myasthenic syndrome 8
- c.4745-11C>T Single submitter congenital myasthenic syndrome 8
- c.4745-14C>T Single submitter congenital myasthenic syndrome 8
- c.4745-16G>A Single submitter congenital myasthenic syndrome 8
- c.4745-19C>T Single submitter congenital myasthenic syndrome 8
- c.4745-8C>T Single submitter congenital myasthenic syndrome 8
- c.4879+10G>A Single submitter congenital myasthenic syndrome 8
- c.4879+13G>A Single submitter congenital myasthenic syndrome 8
- c.4879+16C>T Single submitter congenital myasthenic syndrome 8
- c.4879+20C>T Single submitter congenital myasthenic syndrome 8
- c.4879+8G>A Single submitter congenital myasthenic syndrome 8
- c.4879+9C>T Single submitter congenital myasthenic syndrome 8
- c.4880-10C>T Single submitter congenital myasthenic syndrome 8
- c.4880-15T>C Single submitter congenital myasthenic syndrome 8
- c.4976+12A>G Single submitter congenital myasthenic syndrome 8
- c.4976+14G>C Single submitter congenital myasthenic syndrome 8
- c.4976+16G>A Single submitter congenital myasthenic syndrome 8
- c.4976+16G>C Single submitter congenital myasthenic syndrome 8
Uncertain significance 1131
Showing the top 300 by review status; the full set is in the sitemap.
- c.1177+4A>G Multiple submitters congenital myasthenic syndrome 8
- c.1384+6C>T Multiple submitters congenital myasthenic syndrome 8
- p.Ala1012Thr Multiple submitters Inborn genetic diseases
- p.Ala1056Thr Multiple submitters Inborn genetic diseases
- p.Ala120Pro Multiple submitters congenital myasthenic syndrome 8
- p.Ala1255Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala1264Ser Multiple submitters congenital myasthenic syndrome 8
- p.Ala1267Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala1304Thr Multiple submitters Inborn genetic diseases
- p.Ala1325Gly Multiple submitters Inborn genetic diseases
- p.Ala1364Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala1372Thr Multiple submitters Inborn genetic diseases
- p.Ala1415Asp Multiple submitters congenital myasthenic syndrome 8
- p.Ala1506Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala1538Ser Multiple submitters congenital myasthenic syndrome 8
- p.Ala1586Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala1600Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala1601Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala171Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala1737Val Multiple submitters Inborn genetic diseases
- p.Ala1778Thr Multiple submitters congenital myasthenic syndrome 8
- p.Ala268Ile Multiple submitters congenital myasthenic syndrome 8
- p.Ala2Asp Multiple submitters congenital myasthenic syndrome 8
- p.Ala302Gly Multiple submitters Inborn genetic diseases
- p.Ala302Val Multiple submitters Inborn genetic diseases
- p.Ala512Val Multiple submitters Inborn genetic diseases
- p.Ala649Thr Multiple submitters congenital myasthenic syndrome 8
- p.Ala749Gly Multiple submitters Inborn genetic diseases
- p.Ala780Thr Multiple submitters Inborn genetic diseases
- p.Ala781Asp Multiple submitters congenital myasthenic syndrome 8
- p.Ala854Thr Multiple submitters congenital myasthenic syndrome 8
- p.Ala889Val Multiple submitters Inborn genetic diseases
- p.Ala902Val Multiple submitters congenital myasthenic syndrome 8
- p.Ala996Glu Multiple submitters congenital myasthenic syndrome 8
- p.Arg1025Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1032Gly Multiple submitters congenital myasthenic syndrome 8
- p.Arg1178Trp Multiple submitters congenital myasthenic syndrome 8
- p.Arg1190Cys Multiple submitters Inborn genetic diseases
- p.Arg1190His Multiple submitters congenital myasthenic syndrome 8
- p.Arg1190Pro Multiple submitters congenital myasthenic syndrome 8
- p.Arg1192Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1192Trp Multiple submitters Inborn genetic diseases
- p.Arg1221Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1221Trp Multiple submitters congenital myasthenic syndrome 8
- p.Arg1233Gln Multiple submitters Inborn genetic diseases
- p.Arg1233Trp Multiple submitters congenital myasthenic syndrome 8
- p.Arg1239Gln Multiple submitters Inborn genetic diseases
- p.Arg1239Trp Multiple submitters Inborn genetic diseases
- p.Arg1246Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1278Leu Multiple submitters congenital myasthenic syndrome 8
- p.Arg1287Gln Multiple submitters Inborn genetic diseases
- p.Arg1287Trp Multiple submitters Inborn genetic diseases
- p.Arg1308His Multiple submitters Inborn genetic diseases
- p.Arg1308Leu Multiple submitters Inborn genetic diseases
- p.Arg1317Cys Multiple submitters Inborn genetic diseases
- p.Arg1317His Multiple submitters congenital myasthenic syndrome 8
- p.Arg1380Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1395Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1429His Multiple submitters Inborn genetic diseases
- p.Arg1456His Multiple submitters congenital myasthenic syndrome 8
- p.Arg1464Cys Multiple submitters Inborn genetic diseases
- p.Arg1465Trp Multiple submitters congenital myasthenic syndrome 8
- p.Arg1509Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1521Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1521His Multiple submitters congenital myasthenic syndrome 8
- p.Arg1529Cys Multiple submitters Inborn genetic diseases
- p.Arg1529His Multiple submitters Inborn genetic diseases
- p.Arg1541Gln Multiple submitters Inborn genetic diseases
- p.Arg1580Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1604Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1619His Multiple submitters congenital myasthenic syndrome 8
- p.Arg1656Gln Multiple submitters Inborn genetic diseases
- p.Arg1696Trp Multiple submitters Inborn genetic diseases
- p.Arg1703Cys Multiple submitters Inborn genetic diseases
- p.Arg1734Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1739His Multiple submitters congenital myasthenic syndrome 8
- p.Arg1745His Multiple submitters Inborn genetic diseases
- p.Arg1776Cys Multiple submitters Inborn genetic diseases
- p.Arg1776His Multiple submitters Inborn genetic diseases
- p.Arg1872Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1915Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg1942Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg1951His Multiple submitters Inborn genetic diseases
- p.Arg1954Gln Multiple submitters Inborn genetic diseases
- p.Arg2024Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg277Gly Multiple submitters Inborn genetic diseases
- p.Arg332His Multiple submitters congenital myasthenic syndrome 8
- p.Arg339Leu Multiple submitters congenital myasthenic syndrome 8
- p.Arg352Trp Multiple submitters Inborn genetic diseases
- p.Arg409His Multiple submitters Inborn genetic diseases
- p.Arg411Cys Multiple submitters Inborn genetic diseases
- p.Arg411His Multiple submitters Inborn genetic diseases
- p.Arg426Lys Multiple submitters Inborn genetic diseases
- p.Arg434Leu Multiple submitters Inborn genetic diseases
- p.Arg448Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg530His Multiple submitters congenital myasthenic syndrome 8
- p.Arg536His Multiple submitters Inborn genetic diseases
- p.Arg622Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg646Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg660Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg660Leu Multiple submitters congenital myasthenic syndrome 8
- p.Arg660Trp Multiple submitters Inborn genetic diseases
- p.Arg688Gln Multiple submitters Inborn genetic diseases
- p.Arg690Cys Multiple submitters congenital myasthenic syndrome 8
- p.Arg782Trp Multiple submitters Inborn genetic diseases
- p.Arg815His Multiple submitters Inborn genetic diseases
- p.Arg825Cys Multiple submitters Inborn genetic diseases
- p.Arg841Gln Multiple submitters congenital myasthenic syndrome 8
- p.Arg841Trp Multiple submitters congenital myasthenic syndrome 8
- p.Arg856Gln Multiple submitters Inborn genetic diseases
- p.Arg856Trp Multiple submitters Inborn genetic diseases
- p.Arg884Cys Multiple submitters Inborn genetic diseases
- p.Arg884His Multiple submitters congenital myasthenic syndrome 8
- p.Arg905Cys Multiple submitters Inborn genetic diseases
- p.Arg905Gly Multiple submitters congenital myasthenic syndrome 8
- p.Arg911Trp Multiple submitters Inborn genetic diseases
- p.Arg956Cys Multiple submitters Inborn genetic diseases
- p.Arg956His Multiple submitters Inborn genetic diseases
- p.Asn1680Asp Multiple submitters congenital myasthenic syndrome 8
- p.Asn1828Ser Multiple submitters Inborn genetic diseases
- p.Asn1970Asp Multiple submitters congenital myasthenic syndrome 8
- p.Asn777His Multiple submitters congenital myasthenic syndrome 8
- p.Asn777Ser Multiple submitters Inborn genetic diseases
- p.Asn832Asp Multiple submitters Inborn genetic diseases
- p.Asn832Lys Multiple submitters Inborn genetic diseases
- p.Asp1115Asn Multiple submitters congenital myasthenic syndrome 8
- p.Asp1175Asn Multiple submitters Inborn genetic diseases
- p.Asp1175Gly Multiple submitters Inborn genetic diseases
- p.Asp1485Asn Multiple submitters congenital myasthenic syndrome 8
- p.Asp1501Glu Multiple submitters congenital myasthenic syndrome 8
- p.Asp1705Asn Multiple submitters congenital myasthenic syndrome 8
- p.Asp1770Asn Multiple submitters Inborn genetic diseases
- p.Asp1785His Multiple submitters congenital myasthenic syndrome 8
- p.Asp2019Asn Multiple submitters congenital myasthenic syndrome 8
- p.Asp264Glu Multiple submitters congenital myasthenic syndrome 8
- p.Asp417Gly Multiple submitters congenital myasthenic syndrome 8
- p.Asp439Asn Multiple submitters Inborn genetic diseases
- p.Asp462Glu Multiple submitters congenital myasthenic syndrome 8
- p.Asp505Asn Multiple submitters congenital myasthenic syndrome 8
- p.Asp58Asn Multiple submitters congenital myasthenic syndrome 8
- p.Asp697Asn Multiple submitters Inborn genetic diseases
- p.Asp839Asn Multiple submitters congenital myasthenic syndrome 8
- p.Cys1597Phe Multiple submitters congenital myasthenic syndrome 8
- p.Cys1597Ser Multiple submitters Inborn genetic diseases
- p.Cys22Tyr Multiple submitters congenital myasthenic syndrome 8
- p.Cys859Arg Multiple submitters Inborn genetic diseases
- p.Cys891Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gln1612Glu Multiple submitters Inborn genetic diseases
- p.Gln666Glu Multiple submitters congenital myasthenic syndrome 8
- p.Gln747His Multiple submitters congenital myasthenic syndrome 8
- p.Gln775Arg Multiple submitters Inborn genetic diseases
- p.Glu1069Lys Multiple submitters congenital myasthenic syndrome 8
- p.Glu1086Asp Multiple submitters Inborn genetic diseases
- p.Glu1086Lys Multiple submitters Inborn genetic diseases
- p.Glu1101Lys Multiple submitters Inborn genetic diseases
- p.Glu1124Gln Multiple submitters Inborn genetic diseases
- p.Glu1139Ala Multiple submitters Inborn genetic diseases
- p.Glu1243Lys Multiple submitters Inborn genetic diseases
- p.Glu1479Lys Multiple submitters Inborn genetic diseases
- p.Glu1500Lys Multiple submitters Inborn genetic diseases
- p.Glu1876Lys Multiple submitters Inborn genetic diseases
- p.Glu1885Lys Multiple submitters Inborn genetic diseases
- p.Glu514Lys Multiple submitters congenital myasthenic syndrome 8
- p.Glu549Lys Multiple submitters congenital myasthenic syndrome 8
- p.Glu577Lys Multiple submitters Inborn genetic diseases
- p.Glu657Lys Multiple submitters Inborn genetic diseases
- p.Glu668Lys Multiple submitters Inborn genetic diseases
- p.Glu685Asp Multiple submitters congenital myasthenic syndrome 8
- p.Glu930Ala Multiple submitters congenital myasthenic syndrome 8
- p.Gly1002Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly1065Glu Multiple submitters congenital myasthenic syndrome 8
- p.Gly1268Glu Multiple submitters congenital myasthenic syndrome 8
- p.Gly1341Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly1351Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly1437Asp Multiple submitters Inborn genetic diseases
- p.Gly1549Arg Multiple submitters Inborn genetic diseases
- p.Gly158Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly1632Ser Multiple submitters congenital myasthenic syndrome 8
- p.Gly1686Ser Multiple submitters congenital myasthenic syndrome 8
- p.Gly1688Glu Multiple submitters Inborn genetic diseases
- p.Gly1741Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly1976Ser Multiple submitters congenital myasthenic syndrome 8
- p.Gly2023Val Multiple submitters Inborn genetic diseases
- p.Gly289Asp Multiple submitters Inborn genetic diseases
- p.Gly371Asp Multiple submitters Inborn genetic diseases
- p.Gly391Asp Multiple submitters congenital myasthenic syndrome 8
- p.Gly423Arg Multiple submitters Inborn genetic diseases
- p.Gly433Ala Multiple submitters Inborn genetic diseases
- p.Gly433Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly476Ala Multiple submitters Inborn genetic diseases
- p.Gly503Ser Multiple submitters Inborn genetic diseases
- p.Gly568Ser Multiple submitters congenital myasthenic syndrome 8
- p.Gly571Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly597Arg Multiple submitters congenital myasthenic syndrome 8
- p.Gly629Ser Multiple submitters Inborn genetic diseases
- p.Gly636Ser Multiple submitters congenital myasthenic syndrome 8
- p.Gly640Ser Multiple submitters Inborn genetic diseases
- p.Gly680Ser Multiple submitters congenital myasthenic syndrome 8
- p.Gly871Trp Multiple submitters congenital myasthenic syndrome 8
- p.Gly887Cys Multiple submitters Inborn genetic diseases
- p.Gly909Ser Multiple submitters congenital myasthenic syndrome 8
- p.His1551Arg Multiple submitters congenital myasthenic syndrome 8
- p.His1551Tyr Multiple submitters Inborn genetic diseases
- p.His1892Tyr Multiple submitters congenital myasthenic syndrome 8
- p.His798Leu Multiple submitters congenital myasthenic syndrome 8
- p.Ile1203Thr Multiple submitters Inborn genetic diseases
- p.Ile1923Val Multiple submitters congenital myasthenic syndrome 8
- p.Leu1241Met Multiple submitters congenital myasthenic syndrome 8
- p.Leu1468Val Multiple submitters congenital myasthenic syndrome 8
- p.Leu1493Phe Multiple submitters congenital myasthenic syndrome 8
- p.Leu17Phe Multiple submitters congenital myasthenic syndrome 8
- p.Leu991Phe Multiple submitters congenital myasthenic syndrome 8
- p.Lys1418Glu Multiple submitters congenital myasthenic syndrome 8
- p.Lys1683Met Multiple submitters Inborn genetic diseases
- p.Lys2007Glu Multiple submitters congenital myasthenic syndrome 8
- p.Met1154Val Multiple submitters Inborn genetic diseases
- p.Met175Val Multiple submitters Inborn genetic diseases
- p.Pro1001Ala Multiple submitters congenital myasthenic syndrome 8
- p.Pro1001Ser Multiple submitters congenital myasthenic syndrome 8
- p.Pro1005Leu Multiple submitters Inborn genetic diseases
- p.Pro100Ser Multiple submitters Inborn genetic diseases
- p.Pro1099Leu Multiple submitters Inborn genetic diseases
- p.Pro121His Multiple submitters congenital myasthenic syndrome 8
- p.Pro1286Thr Multiple submitters congenital myasthenic syndrome 8
- p.Pro1375Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1440Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1448Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1536Leu Multiple submitters Inborn genetic diseases
- p.Pro1552Ser Multiple submitters congenital myasthenic syndrome 8
- p.Pro15Arg Multiple submitters
- p.Pro1602Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1635Ser Multiple submitters Inborn genetic diseases
- p.Pro1718Thr Multiple submitters Inborn genetic diseases
- p.Pro1751Leu Multiple submitters Inborn genetic diseases
- p.Pro1753Leu Multiple submitters Inborn genetic diseases
- p.Pro1762Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1801Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1817Ser Multiple submitters Inborn genetic diseases
- p.Pro185Arg Multiple submitters Inborn genetic diseases
- p.Pro1979Leu Multiple submitters Inborn genetic diseases
- p.Pro1997Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro1997Ser Multiple submitters Inborn genetic diseases
- p.Pro2000Ser Multiple submitters Inborn genetic diseases
- p.Pro2026Leu Multiple submitters congenital myasthenic syndrome 8
- p.Pro280Ser Multiple submitters Inborn genetic diseases
- p.Pro319Ser Multiple submitters Inborn genetic diseases
- p.Pro325Ser Multiple submitters congenital myasthenic syndrome 8
- p.Pro327Ser Multiple submitters Inborn genetic diseases
- p.Pro340Arg Multiple submitters Inborn genetic diseases
- p.Pro412His Multiple submitters congenital myasthenic syndrome 8
- p.Pro565Ser Multiple submitters congenital myasthenic syndrome 8
- p.Pro702Gln Multiple submitters congenital myasthenic syndrome 8
- p.Pro702Leu Multiple submitters AGRN-related disorder
- p.Pro716Leu Multiple submitters Inborn genetic diseases
- p.Pro770Leu Multiple submitters Inborn genetic diseases
- p.Pro797Arg Multiple submitters congenital myasthenic syndrome 8
- p.Pro828Ala Multiple submitters Inborn genetic diseases
- p.Pro846Ser Multiple submitters congenital myasthenic syndrome 8
- p.Ser1051Asn Multiple submitters Inborn genetic diseases
- p.Ser1062Asn Multiple submitters Inborn genetic diseases
- p.Ser1120Leu Multiple submitters Inborn genetic diseases
- p.Ser1277Leu Multiple submitters Inborn genetic diseases
- p.Ser137Ile Multiple submitters Inborn genetic diseases
- p.Ser1438Leu Multiple submitters congenital myasthenic syndrome 8
- p.Ser1469Leu Multiple submitters congenital myasthenic syndrome 8
- p.Ser1469Trp Multiple submitters congenital myasthenic syndrome 8
- p.Ser1692Leu Multiple submitters Inborn genetic diseases
- p.Ser1782Phe Multiple submitters Inborn genetic diseases
- p.Ser1822Leu Multiple submitters Inborn genetic diseases
- p.Ser215Ala Multiple submitters Inborn genetic diseases
- p.Ser254Arg Multiple submitters Inborn genetic diseases
- p.Ser590Asn Multiple submitters Inborn genetic diseases
- p.Ser698Leu Multiple submitters Inborn genetic diseases
- p.Ser848Gly Multiple submitters congenital myasthenic syndrome 8
- p.Ser981Phe Multiple submitters congenital myasthenic syndrome 8
- p.Thr1040Met Multiple submitters Inborn genetic diseases
- p.Thr1118Met Multiple submitters Inborn genetic diseases
- p.Thr1258Met Multiple submitters Inborn genetic diseases
- p.Thr1270Met Multiple submitters Inborn genetic diseases
- p.Thr1302Met Multiple submitters congenital myasthenic syndrome 8
- p.Thr1393Met Multiple submitters congenital myasthenic syndrome 8
- p.Thr167Met Multiple submitters congenital myasthenic syndrome 8
- p.Thr1684Pro Multiple submitters congenital myasthenic syndrome 8
- p.Thr1819Ile Multiple submitters congenital myasthenic syndrome 8
- p.Thr1882Ile Multiple submitters congenital myasthenic syndrome 8
- p.Thr1902Met Multiple submitters congenital myasthenic syndrome 8
- p.Thr1913Met Multiple submitters Inborn genetic diseases
- p.Thr478Met Multiple submitters congenital myasthenic syndrome 8
- p.Thr50Met Multiple submitters congenital myasthenic syndrome 8
- p.Thr573Met Multiple submitters congenital myasthenic syndrome 8
- p.Thr573Ser Multiple submitters Inborn genetic diseases
- p.Thr809Ile Multiple submitters Inborn genetic diseases
- p.Trp1036Leu Multiple submitters congenital myasthenic syndrome 8
- p.Tyr1918Cys Multiple submitters congenital myasthenic syndrome 8
- p.Tyr498Cys Multiple submitters Inborn genetic diseases
- p.Tyr574Phe Multiple submitters congenital myasthenic syndrome 8
- p.Val1038Met Multiple submitters congenital myasthenic syndrome 8
- p.Val1093Met Multiple submitters Inborn genetic diseases
- p.Val1182Ile Multiple submitters Inborn genetic diseases
- p.Val1219Met Multiple submitters Inborn genetic diseases