CR2 — 865 ClinVar variants

Pathogenic 35

• c.1225+1G>C Multiple submitters immunodeficiency, common variable, 7
• p.Cys154Ter Multiple submitters immunodeficiency, common variable, 7
• c.634+1G>A Single submitter
• p.Arg1080Ter Single submitter immunodeficiency, common variable, 7
• p.Arg247Ter Single submitter immunodeficiency, common variable, 7
• p.Asp808fs Single submitter immunodeficiency, common variable, 7
• p.Cys1037Ter Single submitter immunodeficiency, common variable, 7
• p.Cys210Ter Single submitter immunodeficiency, common variable, 7
• p.Gln1071Ter Single submitter immunodeficiency, common variable, 7
• p.Gln411Ter Single submitter immunodeficiency, common variable, 7
• p.Gln581Ter Single submitter immunodeficiency, common variable, 7
• p.Gln726fs Single submitter immunodeficiency, common variable, 7
• p.Gln759Ter Single submitter immunodeficiency, common variable, 7
• p.Gly262Ter Single submitter immunodeficiency, common variable, 7
• p.Gly549fs Single submitter immunodeficiency, common variable, 7
• p.Gly827Ter Single submitter immunodeficiency, common variable, 7
• p.His955fs Single submitter immunodeficiency, common variable, 7
• p.Ile870fs Single submitter immunodeficiency, common variable, 7
• p.Leu1024fs Single submitter immunodeficiency, common variable, 7
• p.Leu1077Ter Single submitter immunodeficiency, common variable, 7
• p.Lys81fs Single submitter immunodeficiency, common variable, 7
• p.Phe241fs Single submitter immunodeficiency, common variable, 7
• p.Phe486fs Single submitter immunodeficiency, common variable, 7
• p.Ser735Ter Single submitter immunodeficiency, common variable, 7
• p.Thr398fs Single submitter immunodeficiency, common variable, 7
• p.Trp138fs Single submitter immunodeficiency, common variable, 7
• p.Tyr303Ter Single submitter immunodeficiency, common variable, 7
• p.Tyr506Ter Single submitter immunodeficiency, common variable, 7
• p.Tyr554fs Single submitter immunodeficiency, common variable, 7
• p.Tyr631Ter Single submitter immunodeficiency, common variable, 7
• p.Tyr748Ter Single submitter immunodeficiency, common variable, 7
• p.Val14fs Single submitter immunodeficiency, common variable, 7
• p.Val18fs Single submitter immunodeficiency, common variable, 7
• p.Val626fs Single submitter immunodeficiency, common variable, 7
• p.Trp766Ter No assertion criteria immunodeficiency, common variable, 7

Pathogenic/Likely pathogenic 9

• p.Arg142Ter Multiple submitters CR2-related disorder
• p.Arg368Ter Multiple submitters CR2-related disorder
• p.Arg392Ter Multiple submitters immunodeficiency, common variable, 7
• p.Arg840Ter Multiple submitters immunodeficiency, common variable, 7
• p.Leu198fs Multiple submitters immunodeficiency, common variable, 7
• p.Leu819fs Multiple submitters immunodeficiency, common variable, 7
• p.Pro208fs Multiple submitters CR2-related disorder
• p.Ser199fs Multiple submitters immunodeficiency, common variable, 7
• p.Thr209fs Multiple submitters immunodeficiency, common variable, 7

Likely pathogenic 17

• c.3089-1G>A Multiple submitters CR2-related disorder
• p.Val375fs Multiple submitters CR2-related disorder
• c.1403-1G>C Single submitter immunodeficiency, common variable, 7
• c.1978+2T>C Single submitter immunodeficiency, common variable, 7
• c.2240+1G>A Single submitter immunodeficiency, common variable, 7
• c.2716+2T>C Single submitter immunodeficiency, common variable, 7
• c.3088+1G>A Single submitter immunodeficiency, common variable, 7
• c.3088+1G>T Single submitter CR2-related disorder
• c.3188+2del Single submitter immunodeficiency, common variable, 7
• p.Cys197Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys778Ter Single submitter immunodeficiency, common variable, 2
• p.Gln390Ter Single submitter immunodeficiency, common variable, 7
• p.Gly1003fs Single submitter Autosomal recessive CR2-related disorders
• p.Gly957Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Phe680fs Single submitter immunodeficiency, common variable, 7
• p.Pro462fs Single submitter CR2-related disorder
• p.Trp335Ter Single submitter immunodeficiency, common variable, 7

Conflicting classifications of pathogenicity 37

• c.1402+1G>A Single submitter immunodeficiency, common variable, 7
• c.1978+7A>T Single submitter immunodeficiency, common variable, 7
• c.2903-3C>A Single submitter immunodeficiency, common variable, 7
• c.3112+6T>C Single submitter immunodeficiency, common variable, 7
• c.818-4C>T Single submitter immunodeficiency, common variable, 7
• p.Ala470= Single submitter immunodeficiency, common variable, 7
• p.Ala470Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg214His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg220Gln Single submitter CR2-related disorder ⚠
• p.Arg220Ter Single submitter CR2-related disorder
• p.Arg247Gln Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg324Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg360Ter Single submitter Joubert syndrome 17
• p.Arg716Trp Single submitter Inborn genetic diseases
• p.Arg736His Single submitter Inborn genetic diseases ⚠
• p.Arg840Gln Single submitter Inborn genetic diseases ⚠
• p.Asn925Asp Single submitter Inborn genetic diseases ⚠
• p.Cys875Ter Single submitter immunodeficiency, common variable, 7
• p.Gln1011His Single submitter systemic lupus erythematosus, susceptibility to, 9 ⚠
• p.Gly176Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly432Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly559Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly563Glu Single submitter Inborn genetic diseases ⚠
• p.His425Leu Single submitter Inborn genetic diseases ⚠
• p.His538Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.His669Arg Single submitter immunodeficiency, common variable, 7
• p.His862Gln Single submitter Inborn genetic diseases ⚠
• p.Met380Ile Single submitter immunodeficiency, common variable, 7 ⚠
• p.Pro175Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Pro655= Single submitter CR2-related disorder
• p.Thr677Met Single submitter immunodeficiency, common variable, 7
• p.Thr67Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Thr742Met Single submitter immunodeficiency, common variable, 7 ⚠
• p.Val130Ala Single submitter Inborn genetic diseases
• p.Val190Ile Single submitter Inborn genetic diseases ⚠
• p.Val871Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Val946Met Single submitter immunodeficiency, common variable, 7 ⚠

Benign 28

• c.1226-136G>A Multiple submitters
• c.2240+109A>G Multiple submitters
• c.2240+19A>G Multiple submitters immunodeficiency, common variable, 7
• c.3113-145C>G Multiple submitters
• c.3188+46T>A Multiple submitters
• c.445+17A>G Multiple submitters immunodeficiency, common variable, 7
• c.445+88G>T Multiple submitters
• c.446-32C>T Multiple submitters
• c.58+13G>A Multiple submitters immunodeficiency, common variable, 7
• c.58+97G>A Multiple submitters immunodeficiency, common variable, 7
• c.635-20A>T Multiple submitters immunodeficiency, common variable, 7
• c.734+51G>A Multiple submitters
• c.-71T>C Multiple submitters immunodeficiency, common variable, 7
• p.Gly883= Multiple submitters immunodeficiency, common variable, 7
• p.Thr539= Multiple submitters immunodeficiency, common variable, 7
• c.1225+226T>C Single submitter
• c.1571-161C>A Single submitter
• c.1571-222G>A Single submitter
• c.2241-6C>T Single submitter immunodeficiency, common variable, 7
• c.2324-176C>A Single submitter
• c.2903-171T>C Single submitter
• c.2903-292G>T Single submitter
• c.3089-288TTTTTG[4] Single submitter
• c.3113-217A>C Single submitter
• c.445+235C>T Single submitter
• c.59-176C>G Single submitter
• p.Ser336= Single submitter immunodeficiency, common variable, 7
• p.Val362= Single submitter immunodeficiency, common variable, 7

Benign/Likely benign 18

• c.1225+11C>T Multiple submitters immunodeficiency, common variable, 7
• c.1494-17C>T Multiple submitters immunodeficiency, common variable, 7
• c.3089-3del Multiple submitters immunodeficiency, common variable, 7
• c.3189-8_3189-7del Multiple submitters immunodeficiency, common variable, 7
• p.Ala1062Glu Multiple submitters immunodeficiency, common variable, 7
• p.Arg671His Multiple submitters immunodeficiency, common variable, 7
• p.Asn125= Multiple submitters immunodeficiency, common variable, 7
• p.Gln465= Multiple submitters immunodeficiency, common variable, 7
• p.Glu948= Multiple submitters immunodeficiency, common variable, 7
• p.Gly432= Multiple submitters immunodeficiency, common variable, 7
• p.Gly815= Multiple submitters immunodeficiency, common variable, 7
• p.Ile1052Val Multiple submitters immunodeficiency, common variable, 7
• p.Ile776= Multiple submitters immunodeficiency, common variable, 7
• p.Ile784= Multiple submitters immunodeficiency, common variable, 7
• p.Leu592= Multiple submitters immunodeficiency, common variable, 7
• p.Ser541Ile Multiple submitters immunodeficiency, common variable, 7
• p.Ser639Asn Multiple submitters immunodeficiency, common variable, 7
• p.Ser663Pro Multiple submitters immunodeficiency, common variable, 7

Likely benign 300

• c.1225+12G>A Multiple submitters immunodeficiency, common variable, 7
• c.1225+14T>C Multiple submitters immunodeficiency, common variable, 7
• c.2155+7del Multiple submitters immunodeficiency, common variable, 7
• c.2156-16A>C Multiple submitters immunodeficiency, common variable, 7
• c.2156-20_2156-18del Multiple submitters immunodeficiency, common variable, 7
• c.2324-18C>T Multiple submitters immunodeficiency, common variable, 7
• c.3088+14G>A Multiple submitters immunodeficiency, common variable, 7
• c.3188+13G>A Multiple submitters immunodeficiency, common variable, 7
• c.3189-18C>A Multiple submitters immunodeficiency, common variable, 7
• c.59-10T>C Multiple submitters immunodeficiency, common variable, 7
• c.59-8C>T Multiple submitters immunodeficiency, common variable, 7
• p.Ala213= Multiple submitters immunodeficiency, common variable, 7
• p.Ala3= Multiple submitters immunodeficiency, common variable, 7
• p.Ala339= Multiple submitters immunodeficiency, common variable, 7
• p.Ala79= Multiple submitters immunodeficiency, common variable, 7
• p.Arg368= Multiple submitters immunodeficiency, common variable, 7
• p.Arg885= Multiple submitters immunodeficiency, common variable, 7
• p.Arg885His Multiple submitters immunodeficiency, common variable, 7
• p.Asn372= Multiple submitters immunodeficiency, common variable, 7
• p.Asn535= Multiple submitters immunodeficiency, common variable, 7
• p.Asn786= Multiple submitters immunodeficiency, common variable, 7
• p.Asn876Lys Multiple submitters immunodeficiency, common variable, 7
• p.Asn918= Multiple submitters immunodeficiency, common variable, 7
• p.Glu1081= Multiple submitters immunodeficiency, common variable, 7
• p.Gly333= Multiple submitters immunodeficiency, common variable, 7
• p.Leu152= Multiple submitters immunodeficiency, common variable, 7
• p.Leu595= Multiple submitters immunodeficiency, common variable, 7
• p.Leu63= Multiple submitters immunodeficiency, common variable, 7
• p.Leu667= Multiple submitters immunodeficiency, common variable, 7
• p.Leu7= Multiple submitters immunodeficiency, common variable, 7
• p.Phe383= Multiple submitters immunodeficiency, common variable, 7
• p.Phe486= Multiple submitters immunodeficiency, common variable, 7
• p.Pro1034= Multiple submitters immunodeficiency, common variable, 7
• p.Pro1087= Multiple submitters immunodeficiency, common variable, 7
• p.Pro207= Multiple submitters immunodeficiency, common variable, 7
• p.Pro27= Multiple submitters immunodeficiency, common variable, 7
• p.Pro461= Multiple submitters immunodeficiency, common variable, 7
• p.Pro913= Multiple submitters immunodeficiency, common variable, 7
• p.Pro92= Multiple submitters immunodeficiency, common variable, 7
• p.Ser296= Multiple submitters immunodeficiency, common variable, 7
• p.Ser832= Multiple submitters immunodeficiency, common variable, 7
• p.Ser866= Multiple submitters immunodeficiency, common variable, 7
• p.Thr384= Multiple submitters immunodeficiency, common variable, 7
• p.Thr45= Multiple submitters immunodeficiency, common variable, 7
• p.Thr551= Multiple submitters immunodeficiency, common variable, 7
• p.Thr720= Multiple submitters immunodeficiency, common variable, 7
• p.Thr916Ile Multiple submitters immunodeficiency, common variable, 7
• p.Tyr1055= Multiple submitters immunodeficiency, common variable, 7
• p.Tyr303= Multiple submitters immunodeficiency, common variable, 7
• c.1226-6A>G Single submitter immunodeficiency, common variable, 7
• c.1226-8T>C Single submitter immunodeficiency, common variable, 7
• c.1402+16T>A Single submitter immunodeficiency, common variable, 7
• c.1402+17G>A Single submitter immunodeficiency, common variable, 7
• c.1402+8G>A Single submitter immunodeficiency, common variable, 7
• c.1403-10C>T Single submitter immunodeficiency, common variable, 7
• c.1403-11T>C Single submitter immunodeficiency, common variable, 7
• c.1403-17C>G Single submitter immunodeficiency, common variable, 7
• c.1493+11G>A Single submitter immunodeficiency, common variable, 7
• c.1493+11G>C Single submitter immunodeficiency, common variable, 7
• c.1493+11G>T Single submitter immunodeficiency, common variable, 7
• c.1493+15A>G Single submitter immunodeficiency, common variable, 7
• c.1493+16C>T Single submitter immunodeficiency, common variable, 7
• c.1494-14G>A Single submitter immunodeficiency, common variable, 7
• c.1494-16G>A Single submitter immunodeficiency, common variable, 7
• c.1570+15T>C Single submitter immunodeficiency, common variable, 7
• c.1570+17A>T Single submitter immunodeficiency, common variable, 7
• c.1570+20T>C Single submitter immunodeficiency, common variable, 7
• c.1571-10A>C Single submitter immunodeficiency, common variable, 7
• c.1571-11C>A Single submitter immunodeficiency, common variable, 7
• c.1571-16C>A Single submitter immunodeficiency, common variable, 7
• c.1571-17T>A Single submitter immunodeficiency, common variable, 7
• c.1571-6C>T Single submitter immunodeficiency, common variable, 7
• c.1571-8C>A Single submitter immunodeficiency, common variable, 7
• c.1978+10C>T Single submitter immunodeficiency, common variable, 7
• c.1978+18G>A Single submitter immunodeficiency, common variable, 7
• c.1978+19G>A Single submitter immunodeficiency, common variable, 7
• c.1978+20G>T Single submitter immunodeficiency, common variable, 7
• c.1978+25_1978+26del Single submitter
• c.1978+9C>A Single submitter immunodeficiency, common variable, 7
• c.1979-16G>A Single submitter immunodeficiency, common variable, 7
• c.1979-19A>G Single submitter immunodeficiency, common variable, 7
• c.1979-6C>G Single submitter immunodeficiency, common variable, 7
• c.2155+16G>A Single submitter immunodeficiency, common variable, 7
• c.2155+7T>G Single submitter immunodeficiency, common variable, 7
• c.2156-14C>T Single submitter immunodeficiency, common variable, 7
• c.2156-16A>G Single submitter immunodeficiency, common variable, 7
• c.2240+14G>A Single submitter immunodeficiency, common variable, 7
• c.2240+17C>G Single submitter immunodeficiency, common variable, 7
• c.2240+8T>G Single submitter immunodeficiency, common variable, 7
• c.2241-4G>A Single submitter immunodeficiency, common variable, 7
• c.2323+16T>C Single submitter immunodeficiency, common variable, 7
• c.2323+18A>G Single submitter immunodeficiency, common variable, 7
• c.2324-16T>G Single submitter immunodeficiency, common variable, 7
• c.2324-17C>T Single submitter immunodeficiency, common variable, 7
• c.2324-19C>T Single submitter immunodeficiency, common variable, 7
• c.2324-6C>T Single submitter immunodeficiency, common variable, 7
• c.2716+13_2716+18del Single submitter immunodeficiency, common variable, 7
• c.2716+15_2716+19del Single submitter immunodeficiency, common variable, 7
• c.2716+20T>A Single submitter immunodeficiency, common variable, 7
• c.2716+9C>G Single submitter immunodeficiency, common variable, 7
• c.2716+9C>T Single submitter immunodeficiency, common variable, 7
• c.2902+10C>A Single submitter immunodeficiency, common variable, 7
• c.2902+19A>G Single submitter
• c.2903-17G>C Single submitter immunodeficiency, common variable, 7
• c.3088+13G>A Single submitter immunodeficiency, common variable, 7
• c.3088+15C>T Single submitter immunodeficiency, common variable, 7
• c.3088+16T>C Single submitter immunodeficiency, common variable, 7
• c.3088+18C>T Single submitter immunodeficiency, common variable, 7
• c.3088+19A>G Single submitter immunodeficiency, common variable, 7
• c.3088+8C>T Single submitter immunodeficiency, common variable, 7
• c.3089-11A>G Single submitter immunodeficiency, common variable, 7
• c.3089-13G>A Single submitter immunodeficiency, common variable, 7
• c.3089-5T>C Single submitter immunodeficiency, common variable, 7
• c.3112+20T>C Single submitter immunodeficiency, common variable, 7
• c.3113-14G>C Single submitter immunodeficiency, common variable, 7
• c.3188+14C>T Single submitter immunodeficiency, common variable, 7
• c.3188+15G>A Single submitter immunodeficiency, common variable, 7
• c.3188+18T>C Single submitter immunodeficiency, common variable, 7
• c.3189-8C>G Single submitter immunodeficiency, common variable, 7
• c.445+9G>C Single submitter immunodeficiency, common variable, 7
• c.446-12G>A Single submitter immunodeficiency, common variable, 7
• c.446-13TG[5] Single submitter immunodeficiency, common variable, 7
• c.446-14A>G Single submitter immunodeficiency, common variable, 7
• c.446-19C>A Single submitter immunodeficiency, common variable, 7
• c.446-9T>C Single submitter immunodeficiency, common variable, 7
• c.58+12G>C Single submitter immunodeficiency, common variable, 7
• c.58+13G>T Single submitter immunodeficiency, common variable, 7
• c.58+19C>T Single submitter immunodeficiency, common variable, 7
• c.59-12T>C Single submitter immunodeficiency, common variable, 7
• c.59-12T>G Single submitter immunodeficiency, common variable, 7
• c.59-13T>C Single submitter immunodeficiency, common variable, 7
• c.59-17C>T Single submitter immunodeficiency, common variable, 7
• c.59-20G>A Single submitter immunodeficiency, common variable, 7
• c.59-4T>A Single submitter immunodeficiency, common variable, 7
• c.59-4T>C Single submitter immunodeficiency, common variable, 7
• c.634+17A>G Single submitter immunodeficiency, common variable, 7
• c.635-8T>G Single submitter immunodeficiency, common variable, 7
• c.734+8T>G Single submitter immunodeficiency, common variable, 7
• c.735-18A>G Single submitter immunodeficiency, common variable, 7
• c.735-8G>A Single submitter immunodeficiency, common variable, 7
• c.817+13A>G Single submitter immunodeficiency, common variable, 7
• c.817+14C>G Single submitter immunodeficiency, common variable, 7
• c.817+16A>G Single submitter immunodeficiency, common variable, 7
• c.817+19G>A Single submitter immunodeficiency, common variable, 7
• c.818-12C>A Single submitter immunodeficiency, common variable, 7
• c.818-12C>T Single submitter immunodeficiency, common variable, 7
• c.818-17T>C Single submitter immunodeficiency, common variable, 7
• p.Ala117= Single submitter Inborn genetic diseases
• p.Ala348= Single submitter immunodeficiency, common variable, 7
• p.Ala4= Single submitter immunodeficiency, common variable, 7
• p.Ala412= Single submitter immunodeficiency, common variable, 7
• p.Ala864= Single submitter immunodeficiency, common variable, 7
• p.Ala963= Single submitter immunodeficiency, common variable, 7
• p.Arg103= Single submitter immunodeficiency, common variable, 7
• p.Arg1030= Single submitter immunodeficiency, common variable, 7
• p.Arg1080= Single submitter immunodeficiency, common variable, 7
• p.Arg109= Single submitter immunodeficiency, common variable, 7
• p.Arg214Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg255= Single submitter immunodeficiency, common variable, 7
• p.Arg324His Single submitter Inborn genetic diseases
• p.Arg56= Single submitter immunodeficiency, common variable, 7
• p.Arg575His Single submitter Inborn genetic diseases
• p.Arg725= Single submitter immunodeficiency, common variable, 7
• p.Arg846= Single submitter immunodeficiency, common variable, 7
• p.Asn1089= Single submitter immunodeficiency, common variable, 7
• p.Asn121= Single submitter immunodeficiency, common variable, 7
• p.Asn127= Single submitter immunodeficiency, common variable, 7
• p.Asn223= Single submitter immunodeficiency, common variable, 7
• p.Asn709= Single submitter immunodeficiency, common variable, 7
• p.Asn741= Single submitter immunodeficiency, common variable, 7
• p.Asn882= Single submitter
• p.Asn920= Single submitter immunodeficiency, common variable, 7
• p.Asp243= Single submitter immunodeficiency, common variable, 7
• p.Asp691= Single submitter immunodeficiency, common variable, 7
• p.Asp746= Single submitter immunodeficiency, common variable, 7
• p.Asp760= Single submitter immunodeficiency, common variable, 7
• p.Asp824= Single submitter immunodeficiency, common variable, 7
• p.Asp869= Single submitter immunodeficiency, common variable, 7
• p.Cys256= Single submitter immunodeficiency, common variable, 7
• p.Cys325= Single submitter immunodeficiency, common variable, 7
• p.Gln1015= Single submitter immunodeficiency, common variable, 7
• p.Gln1019= Single submitter immunodeficiency, common variable, 7
• p.Gln722= Single submitter immunodeficiency, common variable, 7
• p.Gln756= Single submitter immunodeficiency, common variable, 7
• p.Glu168= Single submitter immunodeficiency, common variable, 7
• p.Glu409= Single submitter immunodeficiency, common variable, 7
• p.Glu508= Single submitter immunodeficiency, common variable, 7
• p.Glu83= Single submitter immunodeficiency, common variable, 7
• p.Gly139= Single submitter immunodeficiency, common variable, 7
• p.Gly235= Single submitter immunodeficiency, common variable, 7
• p.Gly24= Single submitter immunodeficiency, common variable, 7
• p.Gly32= Single submitter immunodeficiency, common variable, 7
• p.Gly387= Single submitter immunodeficiency, common variable, 7
• p.Gly419= Single submitter immunodeficiency, common variable, 7
• p.Gly442= Single submitter immunodeficiency, common variable, 7
• p.Gly475= Single submitter immunodeficiency, common variable, 7
• p.Gly503= Single submitter immunodeficiency, common variable, 7
• p.Gly549= Single submitter immunodeficiency, common variable, 7
• p.Gly829= Single submitter immunodeficiency, common variable, 7
• p.Gly833= Single submitter immunodeficiency, common variable, 7
• p.Gly898= Single submitter immunodeficiency, common variable, 7
• p.Gly983= Single submitter
• p.His164= Single submitter immunodeficiency, common variable, 7
• p.His669= Single submitter immunodeficiency, common variable, 7
• p.His789= Single submitter immunodeficiency, common variable, 7
• p.Ile274= Single submitter immunodeficiency, common variable, 7
• p.Ile376Val Single submitter Inborn genetic diseases
• p.Ile908= Single submitter immunodeficiency, common variable, 7
• p.Ile935= Single submitter immunodeficiency, common variable, 7
• p.Ile980= Single submitter immunodeficiency, common variable, 7
• p.Leu1049= Single submitter immunodeficiency, common variable, 7
• p.Leu13= Single submitter immunodeficiency, common variable, 7
• p.Leu30= Single submitter immunodeficiency, common variable, 7
• p.Leu317= Single submitter immunodeficiency, common variable, 7
• p.Leu323= Single submitter immunodeficiency, common variable, 7
• p.Leu568= Single submitter immunodeficiency, common variable, 7
• p.Leu57= Single submitter immunodeficiency, common variable, 7
• p.Leu597= Single submitter immunodeficiency, common variable, 7
• p.Leu750= Single submitter immunodeficiency, common variable, 7
• p.Leu798= Single submitter immunodeficiency, common variable, 7
• p.Leu839= Single submitter immunodeficiency, common variable, 7
• p.Leu858= Single submitter immunodeficiency, common variable, 7
• p.Leu936= Single submitter immunodeficiency, common variable, 7
• p.Leu998= Single submitter immunodeficiency, common variable, 7
• p.Lys119= Single submitter immunodeficiency, common variable, 7
• p.Lys227= Single submitter immunodeficiency, common variable, 7
• p.Lys331= Single submitter immunodeficiency, common variable, 7
• p.Lys386= Single submitter immunodeficiency, common variable, 7
• p.Lys77= Single submitter immunodeficiency, common variable, 7
• p.Lys818= Single submitter
• p.Lys857= Single submitter immunodeficiency, common variable, 7
• p.Phe241= Single submitter immunodeficiency, common variable, 7
• p.Pro107= Single submitter immunodeficiency, common variable, 7
• p.Pro1090= Single submitter immunodeficiency, common variable, 7
• p.Pro140= Single submitter immunodeficiency, common variable, 7
• p.Pro208= Single submitter immunodeficiency, common variable, 7
• p.Pro222= Single submitter immunodeficiency, common variable, 7
• p.Pro277= Single submitter immunodeficiency, common variable, 7
• p.Pro307= Single submitter immunodeficiency, common variable, 7
• p.Pro352= Single submitter immunodeficiency, common variable, 7
• p.Pro40= Single submitter immunodeficiency, common variable, 7
• p.Pro530= Single submitter immunodeficiency, common variable, 7
• p.Pro591= Single submitter immunodeficiency, common variable, 7
• p.Pro619= Single submitter immunodeficiency, common variable, 7
• p.Pro692= Single submitter immunodeficiency, common variable, 7
• p.Pro843= Single submitter immunodeficiency, common variable, 7
• p.Pro850= Single submitter immunodeficiency, common variable, 7
• p.Pro900= Single submitter immunodeficiency, common variable, 7
• p.Ser1016= Single submitter immunodeficiency, common variable, 7
• p.Ser1070= Single submitter immunodeficiency, common variable, 7
• p.Ser123= Single submitter immunodeficiency, common variable, 7
• p.Ser185Pro Single submitter Inborn genetic diseases
• p.Ser200= Single submitter immunodeficiency, common variable, 7
• p.Ser204= Single submitter immunodeficiency, common variable, 7
• p.Ser22= Single submitter immunodeficiency, common variable, 7
• p.Ser494= Single submitter
• p.Ser52= Single submitter immunodeficiency, common variable, 7
• p.Ser572= Single submitter immunodeficiency, common variable, 7
• p.Ser596= Single submitter immunodeficiency, common variable, 7
• p.Ser743= Single submitter immunodeficiency, common variable, 7
• p.Ser89= Single submitter immunodeficiency, common variable, 7
• p.Thr1047= Single submitter immunodeficiency, common variable, 7
• p.Thr1067= Single submitter immunodeficiency, common variable, 7
• p.Thr1069= Single submitter immunodeficiency, common variable, 7
• p.Thr120Ala Single submitter Inborn genetic diseases
• p.Thr145= Single submitter immunodeficiency, common variable, 7
• p.Thr326= Single submitter immunodeficiency, common variable, 7
• p.Thr334Ile Single submitter
• p.Thr398= Single submitter immunodeficiency, common variable, 7
• p.Thr550= Single submitter immunodeficiency, common variable, 7
• p.Thr555= Single submitter immunodeficiency, common variable, 7
• p.Thr577= Single submitter immunodeficiency, common variable, 7
• p.Thr673= Single submitter immunodeficiency, common variable, 7
• p.Thr677= Single submitter immunodeficiency, common variable, 7
• p.Thr689= Single submitter immunodeficiency, common variable, 7
• p.Thr74= Single submitter immunodeficiency, common variable, 7
• p.Thr742= Single submitter immunodeficiency, common variable, 7
• p.Tyr1066= Single submitter immunodeficiency, common variable, 7
• p.Tyr611= Single submitter immunodeficiency, common variable, 7
• p.Tyr688= Single submitter immunodeficiency, common variable, 7
• p.Tyr799= Single submitter immunodeficiency, common variable, 7
• p.Tyr943= Single submitter immunodeficiency, common variable, 7
• p.Val1056Met Single submitter Inborn genetic diseases
• p.Val1082= Single submitter immunodeficiency, common variable, 7
• p.Val14= Single submitter immunodeficiency, common variable, 7
• p.Val18= Single submitter immunodeficiency, common variable, 7
• p.Val236= Single submitter immunodeficiency, common variable, 7
• p.Val263= Single submitter immunodeficiency, common variable, 7
• p.Val295= Single submitter immunodeficiency, common variable, 7
• p.Val301= Single submitter immunodeficiency, common variable, 7
• p.Val405= Single submitter immunodeficiency, common variable, 7
• p.Val463= Single submitter immunodeficiency, common variable, 7
• p.Val681= Single submitter immunodeficiency, common variable, 7
• p.Val71= Single submitter immunodeficiency, common variable, 7
• p.Val737= Single submitter immunodeficiency, common variable, 7
• p.Val871= Single submitter immunodeficiency, common variable, 7
• p.Val896= Single submitter
• p.Val899= Single submitter immunodeficiency, common variable, 7
• p.Val946= Single submitter immunodeficiency, common variable, 7
• p.Gly993= No assertion criteria CR2-related disorder

Uncertain significance 421

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

• p.Ala174Pro Multiple submitters Inborn genetic diseases ⚠
• p.Ala213Glu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Ala3Ser Multiple submitters Inborn genetic diseases ⚠
• p.Arg1063Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg109Gly Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg142Leu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg233Trp Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg255Trp Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg341Cys Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg358Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg360Gln Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg368Gln Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg428Cys Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg520Pro Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg643Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg716Gln Multiple submitters Inborn genetic diseases
• p.Arg840Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg928Gln Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Arg987Lys Multiple submitters Inborn genetic diseases ⚠
• p.Asn162Ser Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Asn223Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn394His Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Asn418Ser Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Asn492Ser Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Asp1068Ala Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Asp243Val Multiple submitters Inborn genetic diseases ⚠
• p.Asp328His Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Asp490His Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Asp874Asn Multiple submitters Inborn genetic diseases ⚠
• p.Cys1037Trp Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Cys23Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Cys644Tyr Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Cys807Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Gln1011Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln1071Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gln261Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln355Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Gln641Glu Multiple submitters Inborn genetic diseases ⚠
• p.Gln662Arg Multiple submitters immunodeficiency, common variable, 7
• p.Gln756Glu Multiple submitters Inborn genetic diseases ⚠
• p.Gln961Leu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Glu153Lys Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Glu212Asp Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Glu83Asp Multiple submitters Inborn genetic diseases ⚠
• p.Gly126Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Gly224Glu Multiple submitters Inborn genetic diseases ⚠
• p.Gly319Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly540Trp Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Gly563Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Gly615Val Multiple submitters Inborn genetic diseases ⚠
• p.Gly833Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.His854Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Ile173Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile288Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile451Lys Multiple submitters Inborn genetic diseases ⚠
• p.Ile533Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ile908Thr Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Leu11Ser Multiple submitters Inborn genetic diseases ⚠
• p.Leu189Phe Multiple submitters Inborn genetic diseases
• p.Leu57Phe Multiple submitters immunodeficiency, common variable, 7
• p.Leu696Pro Multiple submitters Inborn genetic diseases
• p.Leu696Val Multiple submitters Inborn genetic diseases
• p.Leu952del Multiple submitters immunodeficiency, common variable, 7
• p.Lys1059Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Lys68Glu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Lys768Arg Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Lys860Glu Multiple submitters Inborn genetic diseases ⚠
• p.Met124Val Multiple submitters Inborn genetic diseases ⚠
• p.Met989Ile Multiple submitters immunodeficiency, common variable, 2 ⚠
• p.Phe275Ser Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Pro1023His Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Pro140Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro208Ala Multiple submitters Inborn genetic diseases
• p.Pro229Ala Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Pro251Leu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Pro277Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro27Leu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Pro307Leu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Pro404Ala Multiple submitters systemic lupus erythematosus, susceptibility to, 9 ⚠
• p.Pro461Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro464Leu Multiple submitters immunodeficiency, common variable, 7
• p.Pro560Thr Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Pro715Leu Multiple submitters Inborn genetic diseases
• p.Ser1016Leu Multiple submitters systemic lupus erythematosus, susceptibility to, 9 ⚠
• p.Ser1031Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ser1084Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Ser200Leu Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Ser434Thr Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Ser711Asn Multiple submitters Inborn genetic diseases
• p.Ser832Asn Multiple submitters Inborn genetic diseases ⚠
• p.Ser884Asn Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Thr1069Lys Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Thr180Ile Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Thr958Asn Multiple submitters Inborn genetic diseases ⚠
• p.Thr958Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr997Ile Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Tyr297Asn Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Tyr297Cys Multiple submitters immunodeficiency, common variable, 7 ⚠
• p.Tyr369Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr694Cys Multiple submitters Inborn genetic diseases
• p.Tyr84His Multiple submitters Inborn genetic diseases ⚠
• p.Tyr992Cys Multiple submitters immunodeficiency, common variable, 7
• p.Val1082fs Multiple submitters immunodeficiency, common variable, 7
• p.Val740Ile Multiple submitters immunodeficiency, common variable, 7 ⚠
• c.1225+3G>C Single submitter immunodeficiency, common variable, 7
• c.1402+6A>G Single submitter immunodeficiency, common variable, 7
• c.1403-14G>A Single submitter immunodeficiency, common variable, 7
• c.1403-7_1403-6del Single submitter immunodeficiency, common variable, 7
• c.1570+5G>A Single submitter immunodeficiency, common variable, 7
• c.2323+3A>G Single submitter immunodeficiency, common variable, 7
• c.2323+5G>A Single submitter immunodeficiency, common variable, 7
• c.2902+4C>A Single submitter immunodeficiency, common variable, 7
• c.3112+2_3112+3insC Single submitter
• c.445+6T>C Single submitter immunodeficiency, common variable, 7
• c.445+7A>G Single submitter
• c.445+7A>T Single submitter immunodeficiency, common variable, 7
• c.446-10G>T Single submitter immunodeficiency, common variable, 7
• c.59-5T>C Single submitter immunodeficiency, common variable, 7
• c.635-14G>A Single submitter immunodeficiency, common variable, 7
• c.635-3T>C Single submitter immunodeficiency, common variable, 7
• c.734+5G>A Single submitter immunodeficiency, common variable, 7
• p.Ala1025Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala1033Pro Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala1041Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala1091_Ser1092delinsVal Single submitter
• p.Ala117Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala293Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala339Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala42Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala473Thr Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala4Val Single submitter ⚠
• p.Ala618Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala646Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala714Ser Single submitter immunodeficiency, common variable, 7
• p.Ala794Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ala79Val Single submitter Inborn genetic diseases ⚠
• p.Arg1030Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg1061Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg220Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg233Gln Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg255Gln Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg33Gln Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg33Trp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg341His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg392Gln Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg428His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg520Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg520His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg520Ser Single submitter Inborn genetic diseases ⚠
• p.Arg56Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg56His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg643His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg643Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg671Cys Single submitter immunodeficiency, common variable, 7
• p.Arg736Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg840Pro Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg846Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg885Cys Single submitter Inborn genetic diseases ⚠
• p.Arg888Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Arg928Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn1021Asp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn169Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn294Ser Single submitter Inborn genetic diseases ⚠
• p.Asn440Asp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn557Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn579Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn623Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn648Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn763Ser Single submitter Inborn genetic diseases ⚠
• p.Asn786His Single submitter ⚠
• p.Asn801Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn918Ser Single submitter ⚠
• p.Asn920Thr Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asn925Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp1017Asn Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp1086Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp112Asn Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp367Asn Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp373Asn Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp423Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp545His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp651His Single submitter ⚠
• p.Asp69Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp72Asn Single submitter systemic lupus erythematosus, susceptibility to, 9 ⚠
• p.Asp72Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp760Asn Single submitter immunodeficiency, common variable, 7 ⚠
• p.Asp869Gly Single submitter Inborn genetic diseases ⚠
• p.Asp874His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys132Tyr Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys146Trp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys210Tyr Single submitter Inborn genetic diseases ⚠
• p.Cys495Tyr Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys51Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys593Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys602Arg Single submitter ⚠
• p.Cys65Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys704Arg Single submitter immunodeficiency, common variable, 7
• p.Cys704Tyr Single submitter immunodeficiency, common variable, 7
• p.Cys717Phe Single submitter immunodeficiency, common variable, 7
• p.Cys778Ser Single submitter ⚠
• p.Cys939Tyr Single submitter immunodeficiency, common variable, 7 ⚠
• p.Cys971Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gln1013Arg Single submitter Inborn genetic diseases ⚠
• p.Gln1071Pro Single submitter Inborn genetic diseases ⚠
• p.Gln365Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gln396Arg Single submitter ⚠
• p.Gln641Arg Single submitter Inborn genetic diseases ⚠
• p.Gln722Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gln820His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gln941Arg Single submitter Inborn genetic diseases ⚠
• p.Gln981Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gln991His Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu1007fs Single submitter immunodeficiency, common variable, 7
• p.Glu1078Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu1081Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu244Lys Single submitter Inborn genetic diseases ⚠
• p.Glu409Lys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu448Asp Single submitter Inborn genetic diseases ⚠
• p.Glu448Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu449Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu472Lys Single submitter ⚠
• p.Glu508Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu571Asp Single submitter Inborn genetic diseases ⚠
• p.Glu653Gly Single submitter immunodeficiency, common variable, 7 ⚠
• p.Glu795Ala Single submitter Inborn genetic diseases ⚠
• p.Glu999Asp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly1038Ser Single submitter systemic lupus erythematosus, susceptibility to, 9 ⚠
• p.Gly163Arg Single submitter Inborn genetic diseases ⚠
• p.Gly186Asp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly186Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly186Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly245= Single submitter immunodeficiency, common variable, 7
• p.Gly245Arg Single submitter Inborn genetic diseases ⚠
• p.Gly250Asp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly337_Pro338insGly Single submitter immunodeficiency, common variable, 7
• p.Gly359Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly387Asp Single submitter Inborn genetic diseases ⚠
• p.Gly387Cys Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly432Ala Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly442Asp Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly447Ala Single submitter Inborn genetic diseases
• p.Gly503Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly511Arg Single submitter Inborn genetic diseases ⚠
• p.Gly536Glu Single submitter Inborn genetic diseases ⚠
• p.Gly540Arg Single submitter Inborn genetic diseases ⚠
• p.Gly540Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly666Arg Single submitter Inborn genetic diseases
• p.Gly683_Thr685del Single submitter immunodeficiency, common variable, 7
• p.Gly747Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly827Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly898Cys Single submitter immunodeficiency, common variable, 7
• p.Gly909Glu Single submitter immunodeficiency, common variable, 7 ⚠
• p.Gly919Arg Single submitter immunodeficiency, common variable, 7
• p.Gly947Arg Single submitter Inborn genetic diseases ⚠
• p.Gly99Ala Single submitter Inborn genetic diseases
• p.His165Asp Single submitter immunodeficiency, common variable, 7 ⚠
• p.His287Arg Single submitter Inborn genetic diseases ⚠
• p.His723Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.His723Leu Single submitter immunodeficiency, common variable, 7 ⚠
• p.His753Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.His753Tyr Single submitter immunodeficiency, common variable, 7 ⚠
• p.His779Gln Single submitter immunodeficiency, common variable, 7 ⚠
• p.His828Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.His921Asn Single submitter immunodeficiency, common variable, 7 ⚠
• p.His955Arg Single submitter Inborn genetic diseases ⚠
• p.His955Asp Single submitter Inborn genetic diseases ⚠
• p.His955Tyr Single submitter immunodeficiency, common variable, 7 ⚠
• p.His965Gln Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile102Met Single submitter Inborn genetic diseases ⚠
• p.Ile231Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile288Thr Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile300Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile376Met Single submitter Inborn genetic diseases ⚠
• p.Ile451Met Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile451Thr Single submitter immunodeficiency, common variable, 7
• p.Ile47Met Single submitter Inborn genetic diseases ⚠
• p.Ile513Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile569Thr Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile574Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile58Thr Single submitter immunodeficiency, common variable, 7
• p.Ile613Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile654Met Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile702Ser Single submitter immunodeficiency, common variable, 7
• p.Ile870Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile880Met Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile880Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile935Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Ile95Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu1049Trp Single submitter ⚠
• p.Leu232Phe Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu445Arg Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu445Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu521Phe Single submitter ⚠
• p.Leu521Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu543Ser Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu597Val Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu636Ser Single submitter ⚠
• p.Leu64Phe Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu813Pro Single submitter immunodeficiency, common variable, 7 ⚠
• p.Leu839Ser Single submitter immunodeficiency, common variable, 7 ⚠