RASA2 — 874 ClinVar variants
All ClinVar germline RASA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Likely pathogenic · 15 Conflicting · 37 Benign · 24 Benign/Likely benign · 321 Likely benign · 476 Uncertain significance
Full RASA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll RASA2 variants
Likely pathogenic 1
- p.Ser239Phe No assertion criteria Noonan syndrome 1
Conflicting classifications of pathogenicity 15
- p.Ala179Thr Single submitter
- p.Ala5_Ala11dup Single submitter
- p.Ala5dup Single submitter
- p.Ala742= Single submitter
- p.Arg117Cys Single submitter
- p.Asn277Lys Single submitter RASA2-related disorder
- p.Asn465Ser Single submitter
- p.Glu126Asp Single submitter
- p.Gly609= Single submitter
- p.Leu769Phe Single submitter
- p.Ser13Phe Single submitter
- p.Ser560Gly Single submitter
- p.Ser849Phe Single submitter
- p.Val517Leu Single submitter RASA2-related disorder
- p.Val654Ile Single submitter RASA2-related disorder
Benign 37
- c.1484-64T>A Multiple submitters
- c.1827-39A>G Multiple submitters
- c.2225+54C>T Multiple submitters
- c.2226-32A>G Multiple submitters
- c.2519+10T>G Multiple submitters
- c.252-18C>G Multiple submitters
- c.356-35A>G Multiple submitters
- c.527+15del Multiple submitters
- c.685-77T>G Multiple submitters
- c.*67G>A Multiple submitters
- p.Asn672= Multiple submitters
- p.Gln708His Multiple submitters
- p.Leu720= Multiple submitters
- c.1170-35T>C Single submitter
- c.134-106del Single submitter
- c.1360-168G>A Single submitter
- c.1484-8dup Single submitter
- c.1591-282del Single submitter
- c.1591-299del Single submitter
- c.1591-299G>A Single submitter
- c.1674+105AC[12] Single submitter
- c.1674+105AC[14] Single submitter
- c.1753-222ATAA[7] Single submitter
- c.1753-296A>G Single submitter
- c.1826+32A>G Single submitter
- c.1933+121A>G Single submitter
- c.1933+260C>G Single submitter
- c.1933+33T>C Single submitter
- c.2016+157T>C Single submitter
- c.2016+197T>G Single submitter
- c.2225+165C>T Single submitter
- c.252-249A>C Single submitter
- c.252-277_252-275del Single submitter
- c.527+200A>C Single submitter
- c.611+257G>T Single submitter
- c.684+10dup Single submitter
- c.685-186dup Single submitter
Benign/Likely benign 24
- c.1020+20G>A Multiple submitters
- c.1483+7G>A Multiple submitters
- c.1826+20C>T Multiple submitters
- c.2226-5C>T Multiple submitters
- c.2520-11_2520-10del Multiple submitters
- c.356-15A>C Multiple submitters
- c.527+15dup Multiple submitters
- c.528-19C>T Multiple submitters
- c.528-4T>G Multiple submitters
- c.684+15dup Multiple submitters
- c.761+8C>T Multiple submitters
- p.Ala648Thr Multiple submitters
- p.Arg831= Multiple submitters
- p.Asn205= Multiple submitters
- p.Asn721= Multiple submitters
- p.Cys180= Multiple submitters
- p.Cys474= Multiple submitters
- p.Gly838= Multiple submitters
- p.Ile438= Multiple submitters
- p.Ile535Val Multiple submitters
- p.Ile800= Multiple submitters
- p.Leu128= Multiple submitters
- p.Pro739Ala Multiple submitters
- p.Ser239= Multiple submitters
Likely benign 321
Showing the top 300 by review status; the full set is in the sitemap.
- c.1020+16T>G Multiple submitters
- c.1020+26A>T Multiple submitters
- c.1284+10A>G Multiple submitters
- c.1284+8A>G Multiple submitters
- c.1285-19T>G Multiple submitters
- c.1285-39C>A Multiple submitters
- c.1359+15T>C Multiple submitters
- c.1483+8C>T Multiple submitters
- c.1591-4T>C Multiple submitters
- c.1674+16T>A Multiple submitters
- c.1827-63T>C Multiple submitters
- c.1933+29T>C Multiple submitters
- c.2016+12A>T Multiple submitters
- c.2016+18A>G Multiple submitters
- c.2226-14T>A Multiple submitters
- c.2329+7A>G Multiple submitters
- c.2330-10C>T Multiple submitters
- c.2330-14C>T Multiple submitters
- c.251+15T>A Multiple submitters
- c.251+20A>G Multiple submitters
- c.2519+19A>G Multiple submitters
- c.451-4A>G Multiple submitters
- c.684+17C>T Multiple submitters
- c.684+18G>A Multiple submitters
- c.863+52G>C Multiple submitters
- c.863+7G>T Multiple submitters
- p.Ala516= Multiple submitters
- p.Ala783= Multiple submitters
- p.Ala8= Multiple submitters
- p.Ala848= Multiple submitters
- p.Arg280= Multiple submitters
- p.Arg294= Multiple submitters
- p.Arg702= Multiple submitters
- p.Arg75= Multiple submitters
- p.Asn260= Multiple submitters
- p.Asn797= Multiple submitters
- p.Asp206= Multiple submitters
- p.Cys62= Multiple submitters
- p.Cys779= Multiple submitters
- p.Gln220= Multiple submitters
- p.Gln265= Multiple submitters
- p.Gln70= Multiple submitters
- p.Gln708= Multiple submitters
- p.Gln786= Multiple submitters
- p.Glu563= Multiple submitters
- p.Glu568= Multiple submitters
- p.Ile255= Multiple submitters
- p.Ile353= Multiple submitters
- p.Ile621= Multiple submitters
- p.Ile649= Multiple submitters
- p.Leu173= Multiple submitters
- p.Leu199= Multiple submitters
- p.Leu334= Multiple submitters
- p.Leu367= Multiple submitters
- p.Leu406= Multiple submitters
- p.Leu50= Multiple submitters
- p.Leu540= Multiple submitters
- p.Leu638= Multiple submitters
- p.Leu68= Multiple submitters
- p.Leu683= Multiple submitters
- p.Leu711= Multiple submitters
- p.Leu735= Multiple submitters
- p.Leu772= Multiple submitters
- p.Leu820= Multiple submitters
- p.Lys373= Multiple submitters
- p.Lys595= Multiple submitters
- p.Lys681= Multiple submitters
- p.Phe138= Multiple submitters
- p.Pro184= Multiple submitters
- p.Pro219= Multiple submitters
- p.Pro52= Multiple submitters
- p.Pro739= Multiple submitters
- p.Pro823= Multiple submitters
- p.Pro85= Multiple submitters
- p.Ser139= Multiple submitters
- p.Ser284= Multiple submitters
- p.Ser470= Multiple submitters
- p.Ser815= Multiple submitters
- p.Ser833= Multiple submitters
- p.Thr136= Multiple submitters
- p.Thr164= Multiple submitters
- p.Thr547= Multiple submitters
- p.Thr600= Multiple submitters
- p.Thr65= Multiple submitters
- p.Tyr194= Multiple submitters
- p.Tyr319= Multiple submitters
- p.Tyr483= Multiple submitters
- p.Tyr612= Multiple submitters
- p.Tyr640= Multiple submitters
- p.Val264= Multiple submitters
- p.Val320= Multiple submitters
- p.Val36= Multiple submitters
- p.Val508= Multiple submitters
- c.1020+20del Single submitter
- c.1021-16A>G Single submitter
- c.1021-8G>T Single submitter
- c.1169+14T>A Single submitter
- c.1169+173C>T Single submitter
- c.1169+188C>A Single submitter
- c.1169+220C>G Single submitter
- c.1170-17A>G Single submitter
- c.1170-264G>T Single submitter
- c.1170-4T>G Single submitter
- c.1170-7A>G Single submitter
- c.1284+14C>T Single submitter
- c.1284+19A>G Single submitter
- c.1285-10T>A Single submitter
- c.1285-83C>T Single submitter
- c.134-10A>G Single submitter
- c.134-7C>G Single submitter
- c.134-9T>C Single submitter
- c.1359+14A>G Single submitter
- c.1359+16A>G Single submitter
- c.1360-17C>G Single submitter
- c.1483+11_1483+12insAT Single submitter
- c.1483+12G>A Single submitter
- c.1483+18C>T Single submitter
- c.1483+20A>G Single submitter
- c.1483+20A>T Single submitter
- c.1483+7G>T Single submitter
- c.1484-10T>C Single submitter
- c.1484-13T>C Single submitter
- c.1484-15A>G Single submitter
- c.1484-5T>C Single submitter
- c.1484-7C>T Single submitter
- c.1590+11A>G Single submitter
- c.1590+11A>T Single submitter
- c.1590+290T>G Single submitter
- c.1591-12T>C Single submitter
- c.1591-14T>C Single submitter
- c.1591-20G>A Single submitter
- c.1591-277T>A Single submitter
- c.1591-279T>A Single submitter
- c.1591-281_1591-265del Single submitter
- c.1591-284_1591-272del Single submitter
- c.1591-46A>G Single submitter
- c.1591-88C>G Single submitter
- c.1674+105AC[10] Single submitter
- c.1674+105AC[15] Single submitter
- c.1675-255del Single submitter
- c.1675-73C>G Single submitter
- c.1752+20G>A Single submitter
- c.1753-104A>G Single submitter
- c.1827-14del Single submitter
- c.1827-18C>T Single submitter
- c.1827-20T>C Single submitter
- c.1827-246G>A Single submitter
- c.1933+17T>C Single submitter
- c.1933+18T>A Single submitter
- c.1933+3375_1933+3376del Single submitter
- c.1933+9G>T Single submitter
- c.1934-10dup Single submitter
- c.1934-5T>A Single submitter
- c.2016+12A>C Single submitter
- c.2016+21_2016+24del Single submitter
- c.2016+95A>G Single submitter
- c.2225+13C>G Single submitter
- c.2225+154C>G Single submitter
- c.2225+18T>G Single submitter
- c.2225+7T>G Single submitter
- c.2225+9C>T Single submitter
- c.2226-13A>G Single submitter
- c.2226-19T>G Single submitter
- c.2226-20T>A Single submitter
- c.2226-298T>C Single submitter
- c.2226-4A>G Single submitter
- c.2226-8T>A Single submitter
- c.2329+10C>T Single submitter
- c.2329+16A>G Single submitter
- c.2329+8C>A Single submitter
- c.2330-19A>G Single submitter
- c.251+14A>T Single submitter
- c.251+16T>C Single submitter
- c.2519+15A>G Single submitter
- c.252-13C>T Single submitter
- c.252-244_252-242del Single submitter
- c.252-264G>C Single submitter
- c.2520-14T>C Single submitter
- c.2520-169G>T Single submitter
- c.2520-17C>T Single submitter
- c.2520-194C>T Single submitter
- c.2520-19G>A Single submitter
- c.2520-20T>A Single submitter
- c.2520-5T>C Single submitter
- c.2520-8T>G Single submitter
- c.355+10A>G Single submitter
- c.355+17A>G Single submitter
- c.356-10T>C Single submitter
- c.356-20_356-18del Single submitter
- c.356-4G>A Single submitter
- c.356-5T>C Single submitter
- c.356-5T>G Single submitter
- c.450+10A>G Single submitter
- c.450+6T>C Single submitter
- c.450+7A>G Single submitter
- c.451-269T>C Single submitter
- c.527+205A>G Single submitter
- c.528-102A>G Single submitter
- c.528-7A>G Single submitter
- c.611+148A>G Single submitter
- c.611+253A>G Single submitter
- c.611+7T>C Single submitter
- c.612-11C>T Single submitter
- c.612-283del Single submitter
- c.612-9T>C Single submitter
- c.684+10T>C Single submitter
- c.684+23_684+28del Single submitter
- c.684+55G>A Single submitter
- c.685-12T>C Single submitter
- c.685-14T>C Single submitter
- c.685-7T>C Single submitter
- c.685-8_685-6del Single submitter
- c.685-8G>A Single submitter
- c.761+129A>G Single submitter
- c.761+18T>C Single submitter
- c.762-17C>T Single submitter
- c.762-9A>G Single submitter
- c.863+11A>G Single submitter
- c.863+12G>A Single submitter
- c.863+17T>G Single submitter
- c.863+9C>T Single submitter
- c.864-14T>C Single submitter
- c.864-4T>C Single submitter
- c.*11A>G Single submitter
- c.*291A>G Single submitter
- p.Ala122= Single submitter
- p.Ala26= Single submitter
- p.Ala360= Single submitter
- p.Ala581= Single submitter
- p.Ala615= Single submitter
- p.Ala746= Single submitter
- p.Arg237= Single submitter
- p.Arg366= Single submitter
- p.Arg526= Single submitter
- p.Arg705= Single submitter
- p.Asn259= Single submitter
- p.Asn277= Single submitter
- p.Asn49= Single submitter
- p.Asn733Ser Single submitter
- p.Asp305= Single submitter
- p.Asp338= Single submitter
- p.Asp359= Single submitter
- p.Asp447= Single submitter
- p.Asp698= Single submitter
- p.Asp747= Single submitter
- p.Cys45= Single submitter
- p.Gln141= Single submitter
- p.Gln189= Single submitter
- p.Gln292= Single submitter
- p.Gln491= Single submitter
- p.Gln675= Single submitter
- p.Glu165= Single submitter
- p.Glu246= Single submitter
- p.Glu383= Single submitter
- p.Gly151= Single submitter
- p.Gly188= Single submitter
- p.Gly327= Single submitter
- p.Gly55= Single submitter
- p.Gly552= Single submitter
- p.Gly722= Single submitter
- p.Gly780= Single submitter
- p.His528= Single submitter
- p.Ile224= Single submitter
- p.Ile253= Single submitter
- p.Ile272= Single submitter
- p.Ile425= Single submitter
- p.Ile541= Single submitter
- p.Ile844= Single submitter
- p.Leu112= Single submitter
- p.Leu269= Single submitter
- p.Leu291= Single submitter
- p.Leu306= Single submitter
- p.Leu350= Single submitter
- p.Leu418= Single submitter
- p.Leu633= Single submitter
- p.Lys124= Single submitter
- p.Lys215= Single submitter
- p.Lys273= Single submitter
- p.Lys434= Single submitter
- p.Phe241= Single submitter
- p.Phe523= Single submitter
- p.Phe565= Single submitter
- p.Pro275= Single submitter
- p.Pro293= Single submitter
- p.Pro376= Single submitter
- p.Pro527= Single submitter
- p.Pro716= Single submitter
- p.Pro96= Single submitter
- p.Ser203= Single submitter
- p.Ser234= Single submitter
- p.Ser301= Single submitter
- p.Ser351Gly Single submitter
- p.Ser432= Single submitter
- p.Ser473= Single submitter
- p.Ser502= Single submitter
- p.Ser763= Single submitter
- p.Thr331= Single submitter
- p.Thr379= Single submitter
- p.Thr544= Single submitter
- p.Thr594= Single submitter
Uncertain significance 476
Showing the top 300 by review status; the full set is in the sitemap.
- c.612-3C>T Multiple submitters
- p.Ala360Gly Multiple submitters
- p.Ala489Thr Multiple submitters
- p.Ala503Ser Multiple submitters
- p.Ala742Val Multiple submitters
- p.Arg117His Multiple submitters
- p.Arg310Gln Multiple submitters
- p.Arg366Gln Multiple submitters
- p.Arg404Pro Multiple submitters
- p.Arg457Cys Multiple submitters
- p.Arg457His Multiple submitters
- p.Arg526Gln Multiple submitters
- p.Arg620Gln Multiple submitters
- p.Arg629Gln Multiple submitters
- p.Arg629Ter Multiple submitters
- p.Arg710Lys Multiple submitters
- p.Arg75Cys Multiple submitters
- p.Arg75His Multiple submitters
- p.Asn130Asp Multiple submitters
- p.Asn146Ser Multiple submitters
- p.Asn260Ser Multiple submitters
- p.Asn277Tyr Multiple submitters
- p.Asn451Ser Multiple submitters
- p.Asn656Asp Multiple submitters
- p.Asp115Glu Multiple submitters
- p.Asp127Asn Multiple submitters
- p.Asp372Glu Multiple submitters
- p.Asp388Asn Multiple submitters
- p.Asp647Gly Multiple submitters
- p.Asp755Gly Multiple submitters
- p.Cys129Tyr Multiple submitters
- p.Cys405Arg Multiple submitters
- p.Gln100Arg Multiple submitters
- p.Gln207Glu Multiple submitters
- p.Gln390Lys Multiple submitters
- p.Gln686Pro Multiple submitters
- p.Gln811Arg Multiple submitters
- p.Glu271Asp Multiple submitters
- p.Glu71Lys Multiple submitters
- p.Gly133Asp Multiple submitters
- p.His605Arg Multiple submitters
- p.Ile342Met Multiple submitters
- p.Ile342Val Multiple submitters
- p.Ile349Val Multiple submitters
- p.Ile425Val Multiple submitters
- p.Ile441Ser Multiple submitters
- p.Ile545Val Multiple submitters
- p.Ile621Thr Multiple submitters
- p.Ile761Met Multiple submitters
- p.Ile810Val Multiple submitters
- p.Ile844Val Multiple submitters
- p.Leu50Val Multiple submitters
- p.Leu83Ter Multiple submitters
- p.Lys120Arg Multiple submitters
- p.Lys125Arg Multiple submitters
- p.Lys213Asn Multiple submitters
- p.Lys213Glu Multiple submitters
- p.Lys273Glu Multiple submitters
- p.Lys335Arg Multiple submitters
- p.Lys624Asn Multiple submitters
- p.Met410Val Multiple submitters
- p.Met611Thr Multiple submitters
- p.Phe225Leu Multiple submitters
- p.Pro202Ser Multiple submitters
- p.Pro219Leu Multiple submitters
- p.Pro376Ser Multiple submitters
- p.Pro440Ser Multiple submitters
- p.Pro603Arg Multiple submitters
- p.Ser283Ala Multiple submitters
- p.Ser505Gly Multiple submitters
- p.Ser597Pro Multiple submitters
- p.Ser598Arg Multiple submitters
- p.Ser635Thr Multiple submitters
- p.Ser666Arg Multiple submitters RASA2-related disorder
- p.Thr164Met Multiple submitters
- p.Thr168Ala Multiple submitters
- p.Thr196Ala Multiple submitters
- p.Thr196Ile Multiple submitters
- p.Thr316Ala Multiple submitters
- p.Thr421Ile Multiple submitters
- p.Thr547Ala Multiple submitters
- p.Thr600Met Multiple submitters
- p.Thr651Ala Multiple submitters
- p.Thr679Ala Multiple submitters
- p.Trp258Arg Multiple submitters
- p.Tyr315Phe Multiple submitters
- p.Tyr319Cys Multiple submitters
- p.Tyr762Cys Multiple submitters
- p.Val106Ile Multiple submitters
- p.Val278Ile Multiple submitters
- p.Val320Met Multiple submitters
- p.Val582Ile Multiple submitters
- p.Val660Met Multiple submitters RASA2-related disorder
- p.Val699Ile Multiple submitters
- p.Val744Phe Multiple submitters
- p.Val804Ile Multiple submitters
- c.1020+1G>C Single submitter
- c.1020+4T>C Single submitter
- c.1020+5G>A Single submitter
- c.1169+2_1169+5del Single submitter
- c.1169+4A>G Single submitter
- c.1169+5G>C Single submitter
- c.1170-8T>C Single submitter
- c.1284+1G>C Single submitter
- c.1285-1G>T Single submitter
- c.1359+5G>T Single submitter
- c.1483+1G>A Single submitter
- c.1484-4G>A Single submitter
- c.1674+1G>A Single submitter
- c.1675-7T>G Single submitter
- c.1751_1752+2delinsGGG Single submitter
- c.1752+1G>A Single submitter
- c.1752+2T>C Single submitter
- c.1752+2T>G Single submitter
- c.1752+3A>G Single submitter
- c.1826+17A>G Single submitter
- c.1826+4A>G Single submitter
- c.1934-5_1959dup Single submitter
- c.2016+14A>G Single submitter
- c.2016+1G>A Single submitter
- c.2017-15T>A Single submitter
- c.2017-15T>G Single submitter
- c.2017-16T>C Single submitter
- c.2017-1G>T Single submitter
- c.2225+1G>C Single submitter
- c.2225+3A>T Single submitter
- c.2226-39_2226-17dup Single submitter
- c.2330-13C>T Single submitter
- c.2330-2A>G Single submitter
- c.2519+18T>G Single submitter
- c.450+4A>G Single submitter
- c.451-1G>A Single submitter
- c.451-1G>C Single submitter
- c.451-2A>G Single submitter
- c.611+1G>T Single submitter RASA2-related disorder
- c.611+6A>G Single submitter
- c.762-2A>G Single submitter
- c.762-3C>T Single submitter
- c.762-8A>G Single submitter
- c.863+13C>A Single submitter
- c.863+1G>A Single submitter
- p.Ala122Thr Single submitter
- p.Ala347_Tyr348insTer Single submitter
- p.Ala380Thr Single submitter RASA2-related disorder
- p.Ala402Gly Single submitter
- p.Ala47Glu Single submitter
- p.Ala503Val Single submitter
- p.Ala514Thr Single submitter
- p.Ala516Thr Single submitter
- p.Ala581Thr Single submitter
- p.Ala615Gly Single submitter
- p.Ala648Glu Single submitter
- p.Ala659fs Single submitter
- p.Ala687Thr Single submitter
- p.Ala835Thr Single submitter
- p.Arg204Gly Single submitter
- p.Arg280Ser Single submitter
- p.Arg294Gly Single submitter
- p.Arg310Ter Single submitter
- p.Arg355Gln Single submitter
- p.Arg355Ter Single submitter
- p.Arg397Ser Single submitter
- p.Arg404Gln Single submitter Noonan syndrome
- p.Arg404Ter Single submitter
- p.Arg511Cys Single submitter
- p.Arg511His Single submitter
- p.Arg526Ter Single submitter
- p.Arg536Ser Single submitter
- p.Arg710Ser Single submitter
- p.Arg75Gly Single submitter
- p.Arg75Ser Single submitter
- p.Arg760Ser Single submitter
- p.Arg831Lys Single submitter
- p.Arg97Thr Single submitter
- p.Asn146Lys Single submitter RASA2-related disorder
- p.Asn160Lys Single submitter
- p.Asn259Ser Single submitter
- p.Asn262Ser Single submitter
- p.Asn296Ser Single submitter
- p.Asn358Thr Single submitter
- p.Asn465Ile Single submitter
- p.Asn495Thr Single submitter
- p.Asn656fs Single submitter
- p.Asn688His Single submitter
- p.Asn689Lys Single submitter
- p.Asp115Tyr Single submitter
- p.Asp144Glu Single submitter
- p.Asp192Gly Single submitter
- p.Asp256Asn Single submitter
- p.Asp256Glu Single submitter
- p.Asp256His Single submitter
- p.Asp266Glu Single submitter
- p.Asp282Val Single submitter
- p.Asp295Asn Single submitter
- p.Asp372Asn Single submitter
- p.Asp372Val Single submitter
- p.Asp385Gly Single submitter
- p.Asp388Ala Single submitter
- p.Asp461His Single submitter
- p.Asp461Val Single submitter
- p.Asp61Glu Single submitter
- p.Asp61Gly Single submitter
- p.Asp647Glu Single submitter
- p.Asp821Gly Single submitter
- p.Cys170Tyr Single submitter
- p.Cys191Ser Single submitter
- p.Cys314Tyr Single submitter
- p.Cys354Arg Single submitter
- p.Cys405Tyr Single submitter
- p.Cys430Tyr Single submitter
- p.Cys474Arg Single submitter
- p.Cys479Ser Single submitter
- p.Cys567Phe Single submitter
- p.Cys632Tyr Single submitter
- p.Cys64Arg Single submitter
- p.Cys740Gly Single submitter
- p.Gln141His Single submitter
- p.Gln150Arg Single submitter
- p.Gln150Leu Single submitter
- p.Gln171_Gln172insAsnTer Single submitter
- p.Gln172His Single submitter
- p.Gln240His Single submitter
- p.Gln286His Single submitter
- p.Gln292_Pro293delinsHisSer Single submitter
- p.Gln292His Single submitter
- p.Gln487Lys Single submitter
- p.Gln643Glu Single submitter
- p.Gln643His Single submitter
- p.Gln686Ter Single submitter
- p.Gln789Ter Single submitter
- p.Gln812Arg Single submitter
- p.Glu148_Val149insArgArgLeuValTer Single submitter
- p.Glu244Ter Single submitter
- p.Glu246Lys Single submitter
- p.Glu246Ter Single submitter
- p.Glu252Ala Single submitter
- p.Glu324Lys Single submitter
- p.Glu352Lys Single submitter
- p.Glu428= Single submitter
- p.Glu588Lys Single submitter
- p.Glu608Asp Single submitter
- p.Glu608Gln Single submitter
- p.Glu637Gly Single submitter
- p.Glu664Gln Single submitter
- p.Glu680Lys Single submitter
- p.Glu729Lys Single submitter
- p.Glu777Lys Single submitter
- p.Glu791fs Single submitter
- p.Glu818Gly Single submitter
- p.Glu822Gly Single submitter
- p.Gly119Arg Single submitter
- p.Gly151Asp Single submitter
- p.Gly151Ser Single submitter
- p.Gly201Asp Single submitter
- p.Gly270Asp Single submitter
- p.Gly297Glu Single submitter
- p.Gly307Arg Single submitter
- p.Gly307Trp Single submitter
- p.Gly398Glu Single submitter
- p.Gly609Asp Single submitter
- p.Gly645Asp Single submitter
- p.Gly722Arg Single submitter
- p.Gly736Ser Single submitter
- p.Gly846Trp Single submitter
- p.His154Pro Single submitter
- p.His176Arg Single submitter
- p.His181Arg Single submitter
- p.His285Arg Single submitter
- p.His370fs Single submitter
- p.His370Tyr Single submitter
- p.His371Arg Single submitter
- p.His371fs Single submitter
- p.His498Tyr Single submitter
- p.His521Tyr Single submitter
- p.His605fs Single submitter
- p.His605Gln Single submitter Noonan syndrome
- p.His641Tyr Single submitter
- p.His678Gln Single submitter
- p.Ile177Met Single submitter
- p.Ile186Leu Single submitter
- p.Ile248Leu Single submitter
- p.Ile253Met Single submitter
- p.Ile313Met Single submitter
- p.Ile313Val Single submitter
- p.Ile353Leu Single submitter
- p.Ile395Ser Single submitter
- p.Ile395Val Single submitter
- p.Ile425Leu Single submitter
- p.Ile441Val Single submitter
- p.Ile541Leu Single submitter
- p.Ile580Val Single submitter
- p.Ile589Met Single submitter
- p.Ile621Phe Single submitter
- p.Ile677Val Single submitter
- p.Ile750Met Single submitter
- p.Ile844Thr Single submitter
- p.Leu116Phe Single submitter
- p.Leu128Phe Single submitter
- p.Leu155Val Single submitter
- p.Leu185fs Single submitter