| NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001079221]|not provided [RCV000658542] |
Chr1:207472877 [GRCh38]
Chr1:207646222 [GRCh37]
Chr1:1q32.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000542242]|not provided [RCV000757139] |
Chr1:207474298 [GRCh38]
Chr1:207647643 [GRCh37]
Chr1:1q32.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| CR2, HAPLOTYPE, TGG |
single nucleotide variant |
Systemic lupus erythematosus 9 [RCV000018594] |
Chr1:1q32 |
risk factor |
| NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000029132] |
Chr1:207474297 [GRCh38]
Chr1:207647642 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1225+1G>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000029133]|not provided [RCV001093108] |
Chr1:207470103 [GRCh38]
Chr1:207643448 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3 |
copy number gain |
See cases [RCV000051857] |
Chr1:187143981..224299417 [GRCh38]
Chr1:187113113..224487119 [GRCh37]
Chr1:185379736..222553742 [NCBI36]
Chr1:1q31.1-42.11 |
pathogenic |
| GRCh38/hg38 1q32.1-32.2(chr1:204990129-210220258)x3 |
copy number gain |
See cases [RCV000051859] |
Chr1:204990129..210220258 [GRCh38]
Chr1:204959257..210572305 [GRCh37]
Chr1:203225880..208638928 [NCBI36]
Chr1:1q32.1-32.2 |
pathogenic |
| NM_001006658.2(CR2):c.2291G>A (p.Gly764Glu) |
single nucleotide variant |
Malignant melanoma [RCV000064492] |
Chr1:207474291 [GRCh38]
Chr1:207647636 [GRCh37]
Chr1:205714259 [NCBI36]
Chr1:1q32.2 |
not provided |
| NM_001006658.2(CR2):c.1951G>A (p.Asp651Asn) |
single nucleotide variant |
Malignant melanoma [RCV000060069] |
Chr1:207473152 [GRCh38]
Chr1:207646497 [GRCh37]
Chr1:205713120 [NCBI36]
Chr1:1q32.2 |
not provided |
| NM_001006658.2(CR2):c.2103C>T (p.Ser701=) |
single nucleotide variant |
Malignant melanoma [RCV000060070] |
Chr1:207473669 [GRCh38]
Chr1:207647014 [GRCh37]
Chr1:205713637 [NCBI36]
Chr1:1q32.2 |
not provided |
| NM_001006658.2(CR2):c.2290G>A (p.Gly764Arg) |
single nucleotide variant |
Malignant melanoma [RCV000060071] |
Chr1:207474290 [GRCh38]
Chr1:207647635 [GRCh37]
Chr1:205714258 [NCBI36]
Chr1:1q32.2 |
not provided |
| NM_001006658.3(CR2):c.3092C>T (p.Ser1031Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001213664]|Inborn genetic diseases [RCV004978114] |
Chr1:207479260 [GRCh38]
Chr1:207652605 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2646T>C (p.Asn882=) |
single nucleotide variant |
not provided [RCV001812448] |
Chr1:207475146 [GRCh38]
Chr1:207648491 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001331441] |
Chr1:207477924 [GRCh38]
Chr1:207651269 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2561A>G (p.His854Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001304071]|Inborn genetic diseases [RCV002539543] |
Chr1:207475061 [GRCh38]
Chr1:207648406 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3 |
copy number gain |
See cases [RCV000142054] |
Chr1:204764914..225408698 [GRCh38]
Chr1:204734042..225596400 [GRCh37]
Chr1:203000665..223663023 [NCBI36]
Chr1:1q32.1-42.12 |
pathogenic |
| GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3 |
copy number gain |
See cases [RCV000143727] |
Chr1:207346642..248930485 [GRCh38]
Chr1:207519987..249224684 [GRCh37]
Chr1:205586610..247191307 [NCBI36]
Chr1:1q32.2-44 |
pathogenic |
| GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3 |
copy number gain |
See cases [RCV000240137] |
Chr1:197811907..228997888 [GRCh37]
Chr1:1q31.3-42.13 |
pathogenic |
| NM_001006658.3(CR2):c.2328T>C (p.Ile776=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001511022]|not provided [RCV001811472] |
Chr1:207474828 [GRCh38]
Chr1:207648173 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.3033G>C (p.Gln1011His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000904686]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002057265]|not provided [RCV001815258]|not specified [RCV000238659] |
Chr1:207478015 [GRCh38]
Chr1:207651360 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.3251C>A (p.Ser1084Tyr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000529249]|Inborn genetic diseases [RCV003159907] |
Chr1:207485526 [GRCh38]
Chr1:207658871 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1390C>T (p.Pro464Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000527164] |
Chr1:207470904 [GRCh38]
Chr1:207644249 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2445A>G (p.Gly815=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000552908]|not provided [RCV004715289] |
Chr1:207474945 [GRCh38]
Chr1:207648290 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2352T>C (p.Ile784=) |
single nucleotide variant |
CR2-related disorder [RCV004553242]|Immunodeficiency, common variable, 7 [RCV000527360]|not provided [RCV001531655] |
Chr1:207474852 [GRCh38]
Chr1:207648197 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| NM_001006658.3(CR2):c.1617C>T (p.Thr539=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000553808]|not provided [RCV001811063] |
Chr1:207472818 [GRCh38]
Chr1:207646163 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1458T>C (p.Phe486=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000538904]|not provided [RCV001702519] |
Chr1:207471052 [GRCh38]
Chr1:207644397 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.624C>A (p.Pro208=) |
single nucleotide variant |
CR2-related disorder [RCV004553244]|Immunodeficiency, common variable, 7 [RCV000558666]|not provided [RCV001310896] |
Chr1:207468705 [GRCh38]
Chr1:207642050 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| NM_001006658.3(CR2):c.3189-8_3189-7del |
deletion |
CR2-related disorder [RCV004553243]|Immunodeficiency, common variable, 7 [RCV000556178]|not provided [RCV001811064] |
Chr1:207485455..207485456 [GRCh38]
Chr1:207658800..207658801 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3 |
copy number gain |
See cases [RCV000449172] |
Chr1:195483439..249213000 [GRCh37]
Chr1:1q31.3-44 |
pathogenic |
| NM_001006658.3(CR2):c.2012G>A (p.Arg671His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001511021]|not provided [RCV001675895]|not specified [RCV000454598] |
Chr1:207473578 [GRCh38]
Chr1:207646923 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1776G>A (p.Leu592=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001521612]|not provided [RCV001683475]|not specified [RCV000454637] |
Chr1:207472977 [GRCh38]
Chr1:207646322 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001521613]|not provided [RCV001653784]|not specified [RCV000455065] |
Chr1:207473117 [GRCh38]
Chr1:207646462 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001511023]|not provided [RCV001653785]|not specified [RCV000455342] |
Chr1:207480050 [GRCh38]
Chr1:207480050..207480051 [GRCh38]
Chr1:207653395 [GRCh37]
Chr1:207653395..207653396 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) |
single nucleotide variant |
CR2-related disorder [RCV004551507]|Immunodeficiency, common variable, 7 [RCV001083719]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002056686]|not provided [RCV000658540]|not specified [RCV000455760] |
Chr1:207468605 [GRCh38]
Chr1:207641950 [GRCh37]
Chr1:1q32.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001511020]|not provided [RCV001618686]|not specified [RCV000455766] |
Chr1:207473553 [GRCh38]
Chr1:207646898 [GRCh37]
Chr1:1q32.2 |
benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001006658.3(CR2):c.2649T>C (p.Gly883=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000545920]|not provided [RCV003103797] |
Chr1:207475149 [GRCh38]
Chr1:207648494 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.624C>G (p.Pro208=) |
single nucleotide variant |
CR2-related disorder [RCV004551643]|Immunodeficiency, common variable, 7 [RCV000537145]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002481636]|not provided [RCV001810990] |
Chr1:207468705 [GRCh38]
Chr1:207642050 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001084359]|not provided [RCV000507749]|not specified [RCV001000027] |
Chr1:207475111 [GRCh38]
Chr1:207648456 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2844G>A (p.Glu948=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001085133]|not provided [RCV000508175] |
Chr1:207476361 [GRCh38]
Chr1:207649706 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_001006658.3(CR2):c.2030C>T (p.Thr677Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001855719]|Systemic lupus erythematosus, susceptibility to, 9 [RCV000768193] |
Chr1:207473596 [GRCh38]
Chr1:207646941 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646) |
copy number loss |
Global developmental delay [RCV000626524] |
Chr1:204682513..212815646 [GRCh37]
Chr1:1q32.1-32.3 |
pathogenic |
| NM_001006658.3(CR2):c.971G>A (p.Arg324His) |
single nucleotide variant |
Inborn genetic diseases [RCV003241595] |
Chr1:207469848 [GRCh38]
Chr1:207643193 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1037C>A (p.Thr346Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003262123] |
Chr1:207469914 [GRCh38]
Chr1:207643259 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.730G>A (p.Glu244Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003262124] |
Chr1:207468895 [GRCh38]
Chr1:207642240 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.605A>C (p.Lys202Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650307] |
Chr1:207468686 [GRCh38]
Chr1:207642031 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.424C>T (p.Arg142Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650308] |
Chr1:207466891 [GRCh38]
Chr1:207640236 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.389T>C (p.Val130Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650309]|Inborn genetic diseases [RCV002531957] |
Chr1:207466856 [GRCh38]
Chr1:207640201 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650310]|not provided [RCV000761695] |
Chr1:207473132 [GRCh38]
Chr1:207646477 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.375C>T (p.Asn125=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650311] |
Chr1:207466842 [GRCh38]
Chr1:207640187 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| NM_001006658.3(CR2):c.2654G>A (p.Arg885His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650313] |
Chr1:207475154 [GRCh38]
Chr1:207648499 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1622G>T (p.Ser541Ile) |
single nucleotide variant |
CR2-related disorder [RCV004547821]|Immunodeficiency, common variable, 7 [RCV000650314]|not provided [RCV004715326] |
Chr1:207472823 [GRCh38]
Chr1:207646168 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| NM_001006658.3(CR2):c.641G>A (p.Arg214His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650315]|not provided [RCV004711268] |
Chr1:207468806 [GRCh38]
Chr1:207642151 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1395A>G (p.Gln465=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650316] |
Chr1:207470909 [GRCh38]
Chr1:207644254 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2006A>G (p.His669Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650317]|not provided [RCV001796169] |
Chr1:207473572 [GRCh38]
Chr1:207646917 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.999G>A (p.Gly333=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650319] |
Chr1:207469876 [GRCh38]
Chr1:207643221 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3187C>T (p.Arg1063Cys) |
single nucleotide variant |
CR2-related disorder [RCV004547820]|Immunodeficiency, common variable, 7 [RCV000650306]|Inborn genetic diseases [RCV002530534]|Systemic lupus erythematosus, susceptibility to, 9 [RCV003224367]|not provided [RCV004691268] |
Chr1:207480052 [GRCh38]
Chr1:207653397 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2506C>T (p.Pro836Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650305] |
Chr1:207475006 [GRCh38]
Chr1:207648351 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.52G>A (p.Val18Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650304] |
Chr1:207454470 [GRCh38]
Chr1:207627815 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2863C>T (p.His955Tyr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650303] |
Chr1:207476380 [GRCh38]
Chr1:207649725 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2738C>T (p.Pro913Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650302] |
Chr1:207476255 [GRCh38]
Chr1:207649600 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1597A>T (p.Ile533Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000650301] |
Chr1:207472798 [GRCh38]
Chr1:207646143 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2753A>G (p.Asn918Ser) |
single nucleotide variant |
not provided [RCV000658543] |
Chr1:207476270 [GRCh38]
Chr1:207649615 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.970C>T (p.Arg324Cys) |
single nucleotide variant |
CR2-related disorder [RCV004737939]|Immunodeficiency, common variable, 7 [RCV001086056]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002066953]|not provided [RCV000658541]|not specified [RCV001000635] |
Chr1:207469847 [GRCh38]
Chr1:207643192 [GRCh37]
Chr1:1q32.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs) |
insertion |
Immunodeficiency, common variable, 7 [RCV000698968] |
Chr1:207472860..207472861 [GRCh38]
Chr1:207646205..207646206 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.1210C>G (p.Pro404Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000701135]|Systemic lupus erythematosus, susceptibility to, 9 [RCV000768192]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002493228]|not provided [RCV000761693] |
Chr1:207470087 [GRCh38]
Chr1:207643432 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.668A>G (p.Asn223Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000692820]|Inborn genetic diseases [RCV004025133]|not provided [RCV001535767] |
Chr1:207468833 [GRCh38]
Chr1:207642178 [GRCh37]
Chr1:1q32.2 |
uncertain significance|not provided |
| NM_001006658.3(CR2):c.728A>T (p.Asp243Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000692891]|Inborn genetic diseases [RCV002532227] |
Chr1:207468893 [GRCh38]
Chr1:207642238 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.622C>T (p.Pro208Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000701710] |
Chr1:207468703 [GRCh38]
Chr1:207642048 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2228C>T (p.Ser743Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000690619] |
Chr1:207473873 [GRCh38]
Chr1:207647218 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1180A>C (p.Asn394His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000688650]|Inborn genetic diseases [RCV003163124] |
Chr1:207470057 [GRCh38]
Chr1:207643402 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2783G>A (p.Arg928Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000691388] |
Chr1:207476300 [GRCh38]
Chr1:207649645 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.784G>T (p.Gly262Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000705806] |
Chr1:207469199 [GRCh38]
Chr1:207642544 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.721_722del (p.Phe241fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV000699533] |
Chr1:207468883..207468884 [GRCh38]
Chr1:207642228..207642229 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2656G>A (p.Val886Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000689276] |
Chr1:207475156 [GRCh38]
Chr1:207648501 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.7G>T (p.Ala3Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000700744] |
Chr1:207454425 [GRCh38]
Chr1:207627770 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000694953] |
Chr1:207485513 [GRCh38]
Chr1:207658858 [GRCh37]
Chr1:1q32.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.2920C>A (p.Pro974Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000707505] |
Chr1:207477902 [GRCh38]
Chr1:207651247 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3100C>G (p.Pro1034Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000688745] |
Chr1:207479268 [GRCh38]
Chr1:207652613 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.452C>T (p.Pro151Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000696314] |
Chr1:207468533 [GRCh38]
Chr1:207641878 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1962A>G (p.Ile654Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000705734] |
Chr1:207473163 [GRCh38]
Chr1:207646508 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu) |
single nucleotide variant |
CR2-related disorder [RCV004547868]|Immunodeficiency, common variable, 7 [RCV000700990]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002477612]|not provided [RCV000788315] |
Chr1:207478029 [GRCh38]
Chr1:207651374 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NC_000001.11:g.(?_204033173)_(208209798_?)del |
deletion |
Autism [RCV000754138] |
Chr1:204033173..208209798 [GRCh38]
Chr1:1q32.1-32.2 |
likely pathogenic |
| GRCh37/hg19 1q25.3-41(chr1:185644663-221698833)x3 |
copy number gain |
not provided [RCV000749265] |
Chr1:185644663..221698833 [GRCh37]
Chr1:1q25.3-41 |
pathogenic |
| NM_001006658.3(CR2):c.1043C>T (p.Ala348Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000895869]|Inborn genetic diseases [RCV004028457]|not provided [RCV004711381] |
Chr1:207469920 [GRCh38]
Chr1:207643265 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.3113-217A>C |
single nucleotide variant |
not provided [RCV001645135] |
Chr1:207479761 [GRCh38]
Chr1:207653106 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1104A>T (p.Arg368=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001407391]|not provided [RCV003311919] |
Chr1:207469981 [GRCh38]
Chr1:207643326 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1414G>A (p.Glu472Lys) |
single nucleotide variant |
not provided [RCV000761694] |
Chr1:207471008 [GRCh38]
Chr1:207644353 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2395T>A (p.Tyr799Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001043014] |
Chr1:207474895 [GRCh38]
Chr1:207648240 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2111G>A (p.Cys704Tyr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001045332] |
Chr1:207473677 [GRCh38]
Chr1:207647022 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile) |
single nucleotide variant |
CR2-related disorder [RCV004553491]|Immunodeficiency, common variable, 7 [RCV001087935]|not provided [RCV000971854] |
Chr1:207476264 [GRCh38]
Chr1:207649609 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2836G>A (p.Val946Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000900965]|not provided [RCV003322836] |
Chr1:207476353 [GRCh38]
Chr1:207649698 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.3165C>T (p.Tyr1055=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000967789] |
Chr1:207480030 [GRCh38]
Chr1:207653375 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-8C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001468840] |
Chr1:207466518 [GRCh38]
Chr1:207639863 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3243A>G (p.Glu1081=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001504996] |
Chr1:207485518 [GRCh38]
Chr1:207658863 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1152C>T (p.Thr384=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001482360]|not provided [RCV000755991] |
Chr1:207470029 [GRCh38]
Chr1:207643374 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1650C>T (p.Thr550=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000927686] |
Chr1:207472851 [GRCh38]
Chr1:207646196 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2538C>T (p.Arg846=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000927688] |
Chr1:207475038 [GRCh38]
Chr1:207648383 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2694T>C (p.Gly898=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000927689] |
Chr1:207475194 [GRCh38]
Chr1:207648539 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.135C>T (p.Thr45=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000970553] |
Chr1:207466602 [GRCh38]
Chr1:207639947 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.666C>T (p.Pro222=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000923565] |
Chr1:207468831 [GRCh38]
Chr1:207642176 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1978+7A>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000948237]|not provided [RCV004714160] |
Chr1:207473186 [GRCh38]
Chr1:207646531 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1590C>A (p.Pro530=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001442144] |
Chr1:207472791 [GRCh38]
Chr1:207646136 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2688G>T (p.Val896=) |
single nucleotide variant |
not provided [RCV000972213] |
Chr1:207475188 [GRCh38]
Chr1:207648533 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1296A>T (p.Gly432=) |
single nucleotide variant |
CR2-related disorder [RCV004726748]|Immunodeficiency, common variable, 7 [RCV000973661] |
Chr1:207470810 [GRCh38]
Chr1:207644155 [GRCh37]
Chr1:1q32.2 |
benign|likely benign |
| NM_001006658.3(CR2):c.151T>G (p.Cys51Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001035137] |
Chr1:207466618 [GRCh38]
Chr1:207639963 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1021C>T (p.Arg341Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001049434] |
Chr1:207469898 [GRCh38]
Chr1:207643243 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.206A>G (p.Asp69Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001058747] |
Chr1:207466673 [GRCh38]
Chr1:207640018 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1894A>G (p.Ser632Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001042263] |
Chr1:207473095 [GRCh38]
Chr1:207646440 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2483A>G (p.His828Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001035995] |
Chr1:207474983 [GRCh38]
Chr1:207648328 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.445+6T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001060895] |
Chr1:207466918 [GRCh38]
Chr1:207640263 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1022G>A (p.Arg341His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000810325] |
Chr1:207469899 [GRCh38]
Chr1:207643244 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1402+1G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001856223]|not provided [RCV000788283] |
Chr1:207470917 [GRCh38]
Chr1:207644262 [GRCh37]
Chr1:1q32.2 |
likely pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.920C>T (p.Pro307Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000792832]|not provided [RCV003238217] |
Chr1:207469797 [GRCh38]
Chr1:207643142 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1402+8G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000939352] |
Chr1:207470924 [GRCh38]
Chr1:207644269 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1008T>C (p.Ser336=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000908277] |
Chr1:207469885 [GRCh38]
Chr1:207643230 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1086A>T (p.Val362=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000920874] |
Chr1:207469963 [GRCh38]
Chr1:207643308 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2155+7del |
deletion |
CR2-related disorder [RCV004553517]|Immunodeficiency, common variable, 7 [RCV000978168] |
Chr1:207473726 [GRCh38]
Chr1:207647071 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1665A>T (p.Thr555=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000941783] |
Chr1:207472866 [GRCh38]
Chr1:207646211 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2903-3C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000966308]|not specified [RCV001000879] |
Chr1:207477882 [GRCh38]
Chr1:207651227 [GRCh37]
Chr1:1q32.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.1140G>A (p.Met380Ile) |
single nucleotide variant |
CR2-related disorder [RCV004551666]|Immunodeficiency, common variable, 7 [RCV000892607] |
Chr1:207470017 [GRCh38]
Chr1:207643362 [GRCh37]
Chr1:1q32.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001006658.3(CR2):c.2529T>C (p.Pro843=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001498449] |
Chr1:207475029 [GRCh38]
Chr1:207648374 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2754C>T (p.Asn918=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001471025]|not provided [RCV004711479] |
Chr1:207476271 [GRCh38]
Chr1:207649616 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2628T>G (p.Asn876Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000964830]|not provided [RCV003883517] |
Chr1:207475128 [GRCh38]
Chr1:207648473 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1274A>T (p.His425Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000894977]|Inborn genetic diseases [RCV002539431] |
Chr1:207470788 [GRCh38]
Chr1:207644133 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr) |
single nucleotide variant |
CR2-related disorder [RCV004738026]|Immunodeficiency, common variable, 7 [RCV000820713]|not provided [RCV003992405] |
Chr1:207476240 [GRCh38]
Chr1:207649585 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.243del (p.Lys81fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV000800847] |
Chr1:207466708 [GRCh38]
Chr1:207640053 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.3211C>A (p.Gln1071Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000818972]|Inborn genetic diseases [RCV002537438] |
Chr1:207485486 [GRCh38]
Chr1:207658831 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.665C>T (p.Pro222Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000820893] |
Chr1:207468830 [GRCh38]
Chr1:207642175 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.659G>A (p.Arg220Gln) |
single nucleotide variant |
CR2-related disorder [RCV004549893]|Immunodeficiency, common variable, 7 [RCV000815928]|Inborn genetic diseases [RCV002534877] |
Chr1:207468824 [GRCh38]
Chr1:207642169 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.1425A>T (p.Gly475=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000823126] |
Chr1:207471019 [GRCh38]
Chr1:207644364 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1044G>A (p.Ala348=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000813423] |
Chr1:207469921 [GRCh38]
Chr1:207643266 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.357A>G (p.Lys119=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000803210] |
Chr1:207466824 [GRCh38]
Chr1:207640169 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000791489] |
Chr1:207485486 [GRCh38]
Chr1:207658831 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000790942] |
Chr1:207468543 [GRCh38]
Chr1:207641888 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.599C>T (p.Ser200Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000814832]|Inborn genetic diseases [RCV004028829] |
Chr1:207468680 [GRCh38]
Chr1:207642025 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1688G>A (p.Gly563Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000803946] |
Chr1:207472889 [GRCh38]
Chr1:207646234 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.456C>T (p.Leu152=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000938060] |
Chr1:207468537 [GRCh38]
Chr1:207641882 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2586T>A (p.His862Gln) |
single nucleotide variant |
CR2-related disorder [RCV004549902]|Immunodeficiency, common variable, 7 [RCV000822875] |
Chr1:207475086 [GRCh38]
Chr1:207648431 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.250T>C (p.Tyr84His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000806697]|Inborn genetic diseases [RCV003243318] |
Chr1:207466717 [GRCh38]
Chr1:207640062 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2743A>G (p.Lys915Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000797111] |
Chr1:207476260 [GRCh38]
Chr1:207649605 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1078C>T (p.Arg360Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000805600] |
Chr1:207469955 [GRCh38]
Chr1:207643300 [GRCh37]
Chr1:1q32.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.898A>G (p.Ile300Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000822501] |
Chr1:207469775 [GRCh38]
Chr1:207643120 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2726G>A (p.Gly909Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001066160] |
Chr1:207476243 [GRCh38]
Chr1:207649588 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1409C>T (p.Ala470Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000795265] |
Chr1:207471003 [GRCh38]
Chr1:207644348 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.249A>C (p.Glu83Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000811914]|Inborn genetic diseases [RCV004028749]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002507414] |
Chr1:207466716 [GRCh38]
Chr1:207640061 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3 |
copy number gain |
not provided [RCV000845852] |
Chr1:182388773..249111240 [GRCh37]
Chr1:1q25.3-44 |
pathogenic |
| NM_001006658.3(CR2):c.1475A>G (p.Asn492Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000824242]|Systemic lupus erythematosus, susceptibility to, 9 [RCV001280983] |
Chr1:207471069 [GRCh38]
Chr1:207644414 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.520G>C (p.Ala174Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000806963]|Inborn genetic diseases [RCV004028267] |
Chr1:207468601 [GRCh38]
Chr1:207641946 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1944C>G (p.Asn648Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000815335] |
Chr1:207473145 [GRCh38]
Chr1:207646490 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1508G>A (p.Gly503Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000794572] |
Chr1:207471437 [GRCh38]
Chr1:207644782 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.763C>A (p.Arg255=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000977138] |
Chr1:207469178 [GRCh38]
Chr1:207642523 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.921G>A (p.Pro307=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000811730] |
Chr1:207469798 [GRCh38]
Chr1:207643143 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2685G>T (p.Trp895Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000817673] |
Chr1:207475185 [GRCh38]
Chr1:207648530 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.818-4C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001335519]|not provided [RCV000788194] |
Chr1:207469691 [GRCh38]
Chr1:207643036 [GRCh37]
Chr1:1q32.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.2147G>A (p.Arg716Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003453627]|Inborn genetic diseases [RCV003258966]|not provided [RCV000788346] |
Chr1:207473713 [GRCh38]
Chr1:207647058 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.169C>T (p.Leu57Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001043970] |
Chr1:207466636 [GRCh38]
Chr1:207639981 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2519G>A (p.Arg840Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001067029]|Inborn genetic diseases [RCV004030637] |
Chr1:207475019 [GRCh38]
Chr1:207648364 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3 |
copy number gain |
not provided [RCV000848713] |
Chr1:206329070..213263817 [GRCh37]
Chr1:1q32.1-32.3 |
uncertain significance |
| NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 2 [RCV001195879] |
Chr1:207474834 [GRCh38]
Chr1:207648179 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.763C>T (p.Arg255Trp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001230854] |
Chr1:207469178 [GRCh38]
Chr1:207642523 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2516T>C (p.Leu839Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001066800] |
Chr1:207475016 [GRCh38]
Chr1:207648361 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.982G>C (p.Asp328His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001228500] |
Chr1:207469859 [GRCh38]
Chr1:207643204 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1073G>A (p.Arg358Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001230467] |
Chr1:207469950 [GRCh38]
Chr1:207643295 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1402+6A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001241987] |
Chr1:207470922 [GRCh38]
Chr1:207644267 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1300T>A (p.Ser434Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001214426] |
Chr1:207470814 [GRCh38]
Chr1:207644159 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.910A>G (p.Thr304Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001237356] |
Chr1:207469787 [GRCh38]
Chr1:207643132 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2967G>A (p.Met989Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001223737]|not provided [RCV004691391] |
Chr1:207477949 [GRCh38]
Chr1:207651294 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1921C>G (p.Gln641Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001241436]|Inborn genetic diseases [RCV004034678] |
Chr1:207473122 [GRCh38]
Chr1:207646467 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2438T>C (p.Leu813Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001225175] |
Chr1:207474938 [GRCh38]
Chr1:207648283 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2783G>T (p.Arg928Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001203627] |
Chr1:207476300 [GRCh38]
Chr1:207649645 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3097G>C (p.Ala1033Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001228480] |
Chr1:207479265 [GRCh38]
Chr1:207652610 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2207G>A (p.Arg736His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001211149]|Inborn genetic diseases [RCV002561752] |
Chr1:207473852 [GRCh38]
Chr1:207647197 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.830C>T (p.Pro277Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001223418]|Inborn genetic diseases [RCV004978142] |
Chr1:207469707 [GRCh38]
Chr1:207643052 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2620G>C (p.Asp874His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001218696] |
Chr1:207475120 [GRCh38]
Chr1:207648465 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.376G>A (p.Gly126Arg) |
single nucleotide variant |
CR2-related disorder [RCV004548100]|Immunodeficiency, common variable, 7 [RCV001247860]|Inborn genetic diseases [RCV004034906] |
Chr1:207466843 [GRCh38]
Chr1:207640188 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1700G>C (p.Ser567Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001204566] |
Chr1:207472901 [GRCh38]
Chr1:207646246 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.419C>T (p.Pro140Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001048214]|Inborn genetic diseases [RCV004973235]|not provided [RCV000996117] |
Chr1:207466886 [GRCh38]
Chr1:207640231 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.718T>A (p.Phe240Ile) |
single nucleotide variant |
not provided [RCV000996118] |
Chr1:207468883 [GRCh38]
Chr1:207642228 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2218G>A (p.Val740Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001068791] |
Chr1:207473863 [GRCh38]
Chr1:207647208 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1117G>A (p.Asp373Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001247335] |
Chr1:207469994 [GRCh38]
Chr1:207643339 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1225+226T>C |
single nucleotide variant |
not provided [RCV001686850] |
Chr1:207470328 [GRCh38]
Chr1:207643673 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2903-292G>T |
single nucleotide variant |
not provided [RCV001693347] |
Chr1:207477593 [GRCh38]
Chr1:207650938 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2324-176C>A |
single nucleotide variant |
not provided [RCV001674712] |
Chr1:207474648 [GRCh38]
Chr1:207647993 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2241-4G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001447556] |
Chr1:207474237 [GRCh38]
Chr1:207647582 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2226G>A (p.Thr742=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000927687] |
Chr1:207473871 [GRCh38]
Chr1:207647216 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2241-6C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000945012] |
Chr1:207474235 [GRCh38]
Chr1:207647580 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.621C>T (p.Pro207=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001493528]|not provided [RCV003413739] |
Chr1:207468702 [GRCh38]
Chr1:207642047 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.200C>G (p.Thr67Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000906358]|not provided [RCV004714155] |
Chr1:207466667 [GRCh38]
Chr1:207640012 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2739G>A (p.Pro913=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000886334]|not provided [RCV004711370] |
Chr1:207476256 [GRCh38]
Chr1:207649601 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2031G>A (p.Thr677=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002066377] |
Chr1:207473597 [GRCh38]
Chr1:207646942 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2146C>T (p.Arg716Trp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV000981782]|Inborn genetic diseases [RCV002549576]|not provided [RCV004711490] |
Chr1:207473712 [GRCh38]
Chr1:207647057 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.1084G>A (p.Val362Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001210474] |
Chr1:207469961 [GRCh38]
Chr1:207643306 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.863T>C (p.Ile288Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001225732] |
Chr1:207469740 [GRCh38]
Chr1:207643085 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1537A>G (p.Ile513Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001035284] |
Chr1:207471466 [GRCh38]
Chr1:207644811 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.40G>C (p.Val14Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001244678] |
Chr1:207454458 [GRCh38]
Chr1:207627803 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2240G>A (p.Gly747Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001243399] |
Chr1:207473885 [GRCh38]
Chr1:207647230 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.593dup (p.Leu198fs) |
duplication |
Immunodeficiency, common variable, 7 [RCV001227534] |
Chr1:207468671..207468672 [GRCh38]
Chr1:207642016..207642017 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2018C>G (p.Thr673Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001216860]|not provided [RCV003483792] |
Chr1:207473584 [GRCh38]
Chr1:207646929 [GRCh37]
Chr1:1q32.2 |
uncertain significance|not provided |
| NM_001006658.3(CR2):c.1678C>A (p.Pro560Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001208745] |
Chr1:207472879 [GRCh38]
Chr1:207646224 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1561C>G (p.Leu521Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001223797] |
Chr1:207471490 [GRCh38]
Chr1:207644835 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.717del (p.Phe241fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV001209048] |
Chr1:207468882 [GRCh38]
Chr1:207642227 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001209054] |
Chr1:207473094 [GRCh38]
Chr1:207646439 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2873C>T (p.Thr958Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001045269]|Inborn genetic diseases [RCV004031391] |
Chr1:207476390 [GRCh38]
Chr1:207649735 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.445+7A>G |
single nucleotide variant |
not provided [RCV001093106] |
Chr1:207466919 [GRCh38]
Chr1:207640264 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001234731]|Inborn genetic diseases [RCV002567895] |
Chr1:207485478 [GRCh38]
Chr1:207658823 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1253A>G (p.Asn418Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001048372]|Inborn genetic diseases [RCV004031508] |
Chr1:207470767 [GRCh38]
Chr1:207644112 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2903-171T>C |
single nucleotide variant |
not provided [RCV001609385] |
Chr1:207477714 [GRCh38]
Chr1:207651059 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.446-32C>T |
single nucleotide variant |
not provided [RCV001674885] |
Chr1:207468495 [GRCh38]
Chr1:207641840 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1226-136G>A |
single nucleotide variant |
not provided [RCV001619331] |
Chr1:207470604 [GRCh38]
Chr1:207643949 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2240+109A>G |
single nucleotide variant |
not provided [RCV001686619] |
Chr1:207473994 [GRCh38]
Chr1:207647339 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1571-161C>A |
single nucleotide variant |
not provided [RCV001673338] |
Chr1:207472611 [GRCh38]
Chr1:207645956 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.3113-145C>G |
single nucleotide variant |
not provided [RCV001613716] |
Chr1:207479833 [GRCh38]
Chr1:207653178 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.3089-288TTTTTG[4] |
microsatellite |
not provided [RCV001621438] |
Chr1:207478969..207478974 [GRCh38]
Chr1:207652314..207652319 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.634+1G>A |
single nucleotide variant |
not provided [RCV001093107] |
Chr1:207468716 [GRCh38]
Chr1:207642061 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.3017dup (p.Glu1007fs) |
duplication |
Immunodeficiency, common variable, 7 [RCV001048990] |
Chr1:207477998..207477999 [GRCh38]
Chr1:207651343..207651344 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1079G>A (p.Arg360Gln) |
single nucleotide variant |
CR2-related disorder [RCV004553549]|Immunodeficiency, common variable, 7 [RCV001204426]|not specified [RCV001002617] |
Chr1:207469956 [GRCh38]
Chr1:207643301 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.977C>T (p.Thr326Ile) |
single nucleotide variant |
not provided [RCV001172227] |
Chr1:207469854 [GRCh38]
Chr1:207643199 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.276T>G (p.Pro92=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001421665]|not provided [RCV001172226] |
Chr1:207466743 [GRCh38]
Chr1:207640088 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1353A>G (p.Ile451Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001046601] |
Chr1:207470867 [GRCh38]
Chr1:207644212 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.740G>A (p.Arg247Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001068706] |
Chr1:207469155 [GRCh38]
Chr1:207642500 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001513468]|not provided [RCV001655661] |
Chr1:207480019 [GRCh38]
Chr1:207653364 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.3188+46T>A |
single nucleotide variant |
not provided [RCV001649181] |
Chr1:207480099 [GRCh38]
Chr1:207653444 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1834A>G (p.Lys612Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001035624] |
Chr1:207473035 [GRCh38]
Chr1:207646380 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1571-222G>A |
single nucleotide variant |
not provided [RCV001615638] |
Chr1:207472550 [GRCh38]
Chr1:207645895 [GRCh37]
Chr1:1q32.2 |
benign |
| GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3 |
copy number gain |
See cases [RCV001007407] |
Chr1:204045948..249218992 [GRCh37]
Chr1:1q32.1-44 |
pathogenic |
| NM_001006658.3(CR2):c.734+51G>A |
single nucleotide variant |
not provided [RCV001690642]|not specified [RCV003487709] |
Chr1:207468950 [GRCh38]
Chr1:207642295 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2518C>G (p.Arg840Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001229909] |
Chr1:207475018 [GRCh38]
Chr1:207648363 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.794G>C (p.Trp265Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001060244] |
Chr1:207469209 [GRCh38]
Chr1:207642554 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.622C>G (p.Pro208Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001206456]|Inborn genetic diseases [RCV004609655] |
Chr1:207468703 [GRCh38]
Chr1:207642048 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1511G>A (p.Ser504Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001236775] |
Chr1:207471440 [GRCh38]
Chr1:207644785 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1687G>A (p.Gly563Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001206553]|Systemic lupus erythematosus, susceptibility to, 9 [RCV003224527] |
Chr1:207472888 [GRCh38]
Chr1:207646233 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3112+6T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001216505] |
Chr1:207479286 [GRCh38]
Chr1:207652631 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1322C>G (p.Pro441Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001248175] |
Chr1:207470836 [GRCh38]
Chr1:207644181 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2381C>A (p.Ala794Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001235106] |
Chr1:207474881 [GRCh38]
Chr1:207648226 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2419T>C (p.Cys807Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001037672] |
Chr1:207474919 [GRCh38]
Chr1:207648264 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1927C>T (p.Arg643Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001206872]|Inborn genetic diseases [RCV002561240] |
Chr1:207473128 [GRCh38]
Chr1:207646473 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1321C>A (p.Pro441Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001219384] |
Chr1:207470835 [GRCh38]
Chr1:207644180 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1646del (p.Gly549fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV001216401] |
Chr1:207472846 [GRCh38]
Chr1:207646191 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2168A>G (p.His723Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001235293] |
Chr1:207473813 [GRCh38]
Chr1:207647158 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1346A>G (p.Glu449Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001210707] |
Chr1:207470860 [GRCh38]
Chr1:207644205 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) |
single nucleotide variant |
CR2-related disorder [RCV004548053]|Immunodeficiency, common variable, 7 [RCV001200878] |
Chr1:207468823 [GRCh38]
Chr1:207642168 [GRCh37]
Chr1:1q32.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001006658.3(CR2):c.565C>T (p.Leu189Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001202225]|Inborn genetic diseases [RCV002560301] |
Chr1:207468646 [GRCh38]
Chr1:207641991 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2303A>G (p.Lys768Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001248149] |
Chr1:207474303 [GRCh38]
Chr1:207647648 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2773A>G (p.Asn925Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001230767] |
Chr1:207476290 [GRCh38]
Chr1:207649635 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2895T>G (p.His965Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001041622] |
Chr1:207476412 [GRCh38]
Chr1:207649757 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.493C>G (p.His165Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001216243] |
Chr1:207468574 [GRCh38]
Chr1:207641919 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1064A>G (p.Gln355Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001052885]|Inborn genetic diseases [RCV002553299] |
Chr1:207469941 [GRCh38]
Chr1:207643286 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001214211] |
Chr1:207470052 [GRCh38]
Chr1:207643397 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1559G>A (p.Arg520His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001069946] |
Chr1:207471488 [GRCh38]
Chr1:207644833 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 |
copy number gain |
not provided [RCV001249273] |
Chr1:194356425..210988710 [GRCh37]
Chr1:1q31.3-32.2 |
not provided |
| NM_001006658.3(CR2):c.2301C>A (p.Phe767Leu) |
single nucleotide variant |
CR2-related disorder [RCV004738220]|Immunodeficiency, common variable, 7 [RCV001245991] |
Chr1:207474301 [GRCh38]
Chr1:207647646 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2902+4C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001063526] |
Chr1:207476423 [GRCh38]
Chr1:207649768 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2278G>A (p.Asp760Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001063529] |
Chr1:207474278 [GRCh38]
Chr1:207647623 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) |
single nucleotide variant |
CR2-related disorder [RCV004548156]|Immunodeficiency, common variable, 7 [RCV001312791] |
Chr1:207475125 [GRCh38]
Chr1:207648470 [GRCh37]
Chr1:1q32.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.635-14G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001350426] |
Chr1:207468786 [GRCh38]
Chr1:207642131 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3258T>G (p.Asp1086Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001338147] |
Chr1:207485533 [GRCh38]
Chr1:207658878 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2687T>C (p.Val896Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001301398] |
Chr1:207475187 [GRCh38]
Chr1:207648532 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.214G>A (p.Asp72Asn) |
single nucleotide variant |
Systemic lupus erythematosus, susceptibility to, 9 [RCV001281066] |
Chr1:207466681 [GRCh38]
Chr1:207640026 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV001342650]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002499679] |
Chr1:207485519..207485520 [GRCh38]
Chr1:207658864..207658865 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001321094] |
Chr1:207475018 [GRCh38]
Chr1:207648363 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.325A>G (p.Arg109Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001302699]|Inborn genetic diseases [RCV004978273] |
Chr1:207466792 [GRCh38]
Chr1:207640137 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.167G>A (p.Arg56His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001309693] |
Chr1:207466634 [GRCh38]
Chr1:207466634..207466635 [GRCh38]
Chr1:207639979 [GRCh37]
Chr1:207639979..207639980 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3141C>A (p.Thr1047=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001392819] |
Chr1:207480006 [GRCh38]
Chr1:207653351 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.334G>A (p.Asp112Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001298466] |
Chr1:207466801 [GRCh38]
Chr1:207640146 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1191del (p.Thr398fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV001317243] |
Chr1:207470068 [GRCh38]
Chr1:207643413 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2156-16A>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001433414]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002495600] |
Chr1:207473785 [GRCh38]
Chr1:207647130 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2651G>A (p.Ser884Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001326952] |
Chr1:207475151 [GRCh38]
Chr1:207648496 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1915A>C (p.Ser639Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001305513] |
Chr1:207473116 [GRCh38]
Chr1:207646461 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg) |
single nucleotide variant |
CR2-related disorder [RCV004738253]|Immunodeficiency, common variable, 7 [RCV001331440] |
Chr1:207474997 [GRCh38]
Chr1:207648342 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001370615] |
Chr1:207473849 [GRCh38]
Chr1:207647194 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_001006658.3(CR2):c.446-10G>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001334639] |
Chr1:207468517 [GRCh38]
Chr1:207641862 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2045C>G (p.Ser682Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001351796] |
Chr1:207473611 [GRCh38]
Chr1:207646956 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.12G>A (p.Ala4=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001319913] |
Chr1:207454430 [GRCh38]
Chr1:207627775 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.1282C>T (p.Arg428Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001346355] |
Chr1:207470796 [GRCh38]
Chr1:207644141 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.592_595del (p.Ser199fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV001316364] |
Chr1:207468670..207468673 [GRCh38]
Chr1:207642015..207642018 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.787G>A (p.Val263Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001346515] |
Chr1:207469202 [GRCh38]
Chr1:207642547 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2960G>A (p.Arg987Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001346632]|Inborn genetic diseases [RCV004978381] |
Chr1:207477942 [GRCh38]
Chr1:207651287 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.556G>A (p.Gly186Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001373855] |
Chr1:207468637 [GRCh38]
Chr1:207641982 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3061A>G (p.Asn1021Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001301641] |
Chr1:207478043 [GRCh38]
Chr1:207651388 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3111T>G (p.Cys1037Trp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001364992] |
Chr1:207479279 [GRCh38]
Chr1:207652624 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.694C>T (p.Leu232Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001345907] |
Chr1:207468859 [GRCh38]
Chr1:207642204 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3241G>A (p.Glu1081Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001309784] |
Chr1:207485516 [GRCh38]
Chr1:207658861 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2062T>C (p.Tyr688His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001362997] |
Chr1:207473628 [GRCh38]
Chr1:207646973 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2299T>C (p.Phe767Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001326829] |
Chr1:207474299 [GRCh38]
Chr1:207647644 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.80C>T (p.Pro27Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001347221]|Systemic lupus erythematosus, susceptibility to, 9 [RCV002504549] |
Chr1:207466547 [GRCh38]
Chr1:207639892 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1798G>A (p.Val600Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001342574] |
Chr1:207472999 [GRCh38]
Chr1:207646344 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1985A>G (p.Gln662Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001345127]|not provided [RCV004691426] |
Chr1:207473551 [GRCh38]
Chr1:207646896 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1129T>C (p.Phe377Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001361688] |
Chr1:207470006 [GRCh38]
Chr1:207643351 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.623_624del (p.Pro208fs) |
deletion |
CR2-related disorder [RCV004548147]|Immunodeficiency, common variable, 7 [RCV001302247] |
Chr1:207468699..207468700 [GRCh38]
Chr1:207642044..207642045 [GRCh37]
Chr1:1q32.2 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.1837A>G (p.Ile613Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001369932] |
Chr1:207473038 [GRCh38]
Chr1:207646383 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.74C>G (p.Ser25Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001359026] |
Chr1:207466541 [GRCh38]
Chr1:207639886 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3223T>A (p.Phe1075Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001362017] |
Chr1:207485498 [GRCh38]
Chr1:207658843 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1628T>C (p.Leu543Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001309175] |
Chr1:207472829 [GRCh38]
Chr1:207646174 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2011C>T (p.Arg671Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001340387] |
Chr1:207473577 [GRCh38]
Chr1:207646922 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1268A>T (p.Asp423Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001341697] |
Chr1:207470782 [GRCh38]
Chr1:207644127 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2608A>G (p.Ile870Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001344592] |
Chr1:207475108 [GRCh38]
Chr1:207648453 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2266C>G (p.Gln756Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001350420] |
Chr1:207474266 [GRCh38]
Chr1:207647611 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1187A>G (p.Gln396Arg) |
single nucleotide variant |
not provided [RCV001812369] |
Chr1:207470064 [GRCh38]
Chr1:207643409 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.752C>T (p.Pro251Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001335518] |
Chr1:207469167 [GRCh38]
Chr1:207642512 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.697C>T (p.Arg233Trp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001299631]|not provided [RCV001815533] |
Chr1:207468862 [GRCh38]
Chr1:207642207 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.610A>G (p.Ser204Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001314211] |
Chr1:207468691 [GRCh38]
Chr1:207642036 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.215A>G (p.Asp72Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001352009] |
Chr1:207466682 [GRCh38]
Chr1:207640027 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs) |
duplication |
Immunodeficiency, common variable, 7 [RCV001352395] |
Chr1:207473819..207473820 [GRCh38]
Chr1:207647164..207647165 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.242A>G (p.Lys81Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001325828] |
Chr1:207466709 [GRCh38]
Chr1:207640054 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.600G>A (p.Ser200=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001349745] |
Chr1:207468681 [GRCh38]
Chr1:207642026 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2166G>A (p.Gln722=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001396367] |
Chr1:207473811 [GRCh38]
Chr1:207647156 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001295029] |
Chr1:207477957 [GRCh38]
Chr1:207651302 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2803A>G (p.Ile935Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001359401] |
Chr1:207476320 [GRCh38]
Chr1:207649665 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.951T>C (p.Leu317=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001457997] |
Chr1:207469828 [GRCh38]
Chr1:207643173 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.624C>T (p.Pro208=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001453951] |
Chr1:207468705 [GRCh38]
Chr1:207642050 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1965A>G (p.Pro655=) |
single nucleotide variant |
CR2-related disorder [RCV004550227]|Immunodeficiency, common variable, 7 [RCV001473383] |
Chr1:207473166 [GRCh38]
Chr1:207646511 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2472T>C (p.Asp824=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001417353] |
Chr1:207474972 [GRCh38]
Chr1:207648317 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.729T>C (p.Asp243=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001470916] |
Chr1:207468894 [GRCh38]
Chr1:207642239 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2940C>A (p.Ile980=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001490994] |
Chr1:207477922 [GRCh38]
Chr1:207651267 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.975T>C (p.Cys325=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001465771] |
Chr1:207469852 [GRCh38]
Chr1:207643197 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.222C>G (p.Thr74=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001488537] |
Chr1:207466689 [GRCh38]
Chr1:207640034 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.568G>A (p.Val190Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001474193]|Inborn genetic diseases [RCV004037150] |
Chr1:207468649 [GRCh38]
Chr1:207641994 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.817+16A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001488940] |
Chr1:207469248 [GRCh38]
Chr1:207642593 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1773C>T (p.Pro591=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001459850] |
Chr1:207472974 [GRCh38]
Chr1:207646319 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2240+19A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001517872] |
Chr1:207473904 [GRCh38]
Chr1:207647249 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.327A>G (p.Arg109=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001430377] |
Chr1:207466794 [GRCh38]
Chr1:207640139 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3188+13G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001409941] |
Chr1:207480066 [GRCh38]
Chr1:207653411 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.639A>G (p.Ala213=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001430964] |
Chr1:207468804 [GRCh38]
Chr1:207642149 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.171C>T (p.Leu57=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001436988] |
Chr1:207466638 [GRCh38]
Chr1:207639983 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1425A>G (p.Gly475=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001410277] |
Chr1:207471019 [GRCh38]
Chr1:207644364 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.705T>C (p.Gly235=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001445557] |
Chr1:207468870 [GRCh38]
Chr1:207642215 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.445+9G>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001495127] |
Chr1:207466921 [GRCh38]
Chr1:207640266 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.445+235C>T |
single nucleotide variant |
not provided [RCV001612737] |
Chr1:207467147 [GRCh38]
Chr1:207640492 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1571-10A>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001478977] |
Chr1:207472762 [GRCh38]
Chr1:207646107 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.445+17A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001519939]|not provided [RCV004715464] |
Chr1:207466929 [GRCh38]
Chr1:207640274 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.-71T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001518356]|not provided [RCV001712532] |
Chr1:207454348 [GRCh38]
Chr1:207627693 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.58+97G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001515491]|not provided [RCV001676005] |
Chr1:207454573 [GRCh38]
Chr1:207627918 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1788C>T (p.Ser596=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001462264] |
Chr1:207472989 [GRCh38]
Chr1:207646334 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2127T>C (p.Asn709=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001482575] |
Chr1:207473693 [GRCh38]
Chr1:207647038 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-176C>G |
single nucleotide variant |
not provided [RCV001615714] |
Chr1:207466350 [GRCh38]
Chr1:207639695 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.168C>T (p.Arg56=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001480268] |
Chr1:207466635 [GRCh38]
Chr1:207639980 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3048G>A (p.Ser1016=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001498113] |
Chr1:207478030 [GRCh38]
Chr1:207651375 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.445+88G>T |
single nucleotide variant |
not provided [RCV001616966]|not specified [RCV003487533] |
Chr1:207467000 [GRCh38]
Chr1:207640345 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.58+13G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001518742]|not provided [RCV004715459] |
Chr1:207454489 [GRCh38]
Chr1:207627834 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2655C>T (p.Arg885=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001489283]|not provided [RCV004711685] |
Chr1:207475155 [GRCh38]
Chr1:207648500 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2613G>A (p.Val871=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001477417] |
Chr1:207475113 [GRCh38]
Chr1:207648458 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.640C>T (p.Arg214Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001435878] |
Chr1:207468805 [GRCh38]
Chr1:207642150 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3090T>C (p.Arg1030=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001504774] |
Chr1:207479258 [GRCh38]
Chr1:207652603 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1017C>G (p.Ala339=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001442667] |
Chr1:207469894 [GRCh38]
Chr1:207643239 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.885C>T (p.Val295=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001481666] |
Chr1:207469762 [GRCh38]
Chr1:207643107 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2160A>G (p.Thr720=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001506888] |
Chr1:207473805 [GRCh38]
Chr1:207647150 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2001C>T (p.Leu667=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001459984] |
Chr1:207473567 [GRCh38]
Chr1:207646912 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2323+18A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001467454] |
Chr1:207474341 [GRCh38]
Chr1:207647686 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.189A>G (p.Leu63=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001443064]|not provided [RCV004711629] |
Chr1:207466656 [GRCh38]
Chr1:207640001 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1225+11C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001511740]|not provided [RCV004714225] |
Chr1:207470113 [GRCh38]
Chr1:207643458 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.1226-8T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001443650] |
Chr1:207470732 [GRCh38]
Chr1:207644077 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2156-20_2156-18del |
deletion |
Immunodeficiency, common variable, 7 [RCV001423844] |
Chr1:207473781..207473783 [GRCh38]
Chr1:207647126..207647128 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.681G>A (p.Lys227=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001393684] |
Chr1:207468846 [GRCh38]
Chr1:207642191 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1116C>T (p.Asn372=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001500976] |
Chr1:207469993 [GRCh38]
Chr1:207643338 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2697G>T (p.Val899=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001485360] |
Chr1:207475197 [GRCh38]
Chr1:207648542 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2829C>T (p.Tyr943=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001494116] |
Chr1:207476346 [GRCh38]
Chr1:207649691 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.669T>C (p.Asn223=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001481026] |
Chr1:207468834 [GRCh38]
Chr1:207642179 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.381C>T (p.Asn127=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001495163] |
Chr1:207466848 [GRCh38]
Chr1:207640193 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.635-20A>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001519940]|not provided [RCV004714245] |
Chr1:207468780 [GRCh38]
Chr1:207642125 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.21C>T (p.Leu7=) |
single nucleotide variant |
CR2-related disorder [RCV004550250]|Immunodeficiency, common variable, 7 [RCV001489708]|not provided [RCV002511089] |
Chr1:207454439 [GRCh38]
Chr1:207627784 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.735-8G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001398958] |
Chr1:207469142 [GRCh38]
Chr1:207642487 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2165A>T (p.Gln722Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003109009] |
Chr1:207473810 [GRCh38]
Chr1:207647155 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3261A>G (p.Pro1087=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003645903]|not provided [RCV001815693] |
Chr1:207485536 [GRCh38]
Chr1:207658881 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.173T>C (p.Ile58Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002044838] |
Chr1:207466640 [GRCh38]
Chr1:207639985 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.685C>G (p.Pro229Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002044651]|not provided [RCV004691450] |
Chr1:207468850 [GRCh38]
Chr1:207642195 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3100C>T (p.Pro1034Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002009071] |
Chr1:207479268 [GRCh38]
Chr1:207652613 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.425G>T (p.Arg142Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002020619] |
Chr1:207466892 [GRCh38]
Chr1:207640237 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001838848] |
Chr1:207476387 [GRCh38]
Chr1:207649732 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.2640C>G (p.Ile880Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001914681] |
Chr1:207475140 [GRCh38]
Chr1:207648485 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.636G>C (p.Glu212Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001971421] |
Chr1:207468801 [GRCh38]
Chr1:207642146 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3088C>T (p.Arg1030Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001894075] |
Chr1:207478070 [GRCh38]
Chr1:207651415 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1225+3G>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002044746] |
Chr1:207470105 [GRCh38]
Chr1:207643450 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3085T>A (p.Ser1029Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002008360] |
Chr1:207478067 [GRCh38]
Chr1:207651412 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3232G>A (p.Glu1078Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001966735] |
Chr1:207485507 [GRCh38]
Chr1:207658852 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.517A>G (p.Ile173Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001914645] |
Chr1:207468598 [GRCh38]
Chr1:207641943 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1352T>C (p.Ile451Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001986627] |
Chr1:207470866 [GRCh38]
Chr1:207644211 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1075G>T (p.Gly359Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001911987] |
Chr1:207469952 [GRCh38]
Chr1:207643297 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.97C>T (p.Arg33Trp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001948709] |
Chr1:207466564 [GRCh38]
Chr1:207639909 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3067C>T (p.Pro1023Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001967587] |
Chr1:207478049 [GRCh38]
Chr1:207651394 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.212T>C (p.Val71Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001945236] |
Chr1:207466679 [GRCh38]
Chr1:207640024 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2536C>T (p.Arg846Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002005562] |
Chr1:207475036 [GRCh38]
Chr1:207648381 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2495G>A (p.Ser832Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001823600]|Inborn genetic diseases [RCV002542736] |
Chr1:207474995 [GRCh38]
Chr1:207648340 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.127G>C (p.Val43Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001968440] |
Chr1:207466594 [GRCh38]
Chr1:207639939 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2140G>T (p.Ala714Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002003215] |
Chr1:207473706 [GRCh38]
Chr1:207647051 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1613A>G (p.His538Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001838847] |
Chr1:207472814 [GRCh38]
Chr1:207646159 [GRCh37]
Chr1:1q32.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001006658.3(CR2):c.2402A>G (p.Asn801Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001945072] |
Chr1:207474902 [GRCh38]
Chr1:207648247 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1468G>C (p.Asp490His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002005959]|Inborn genetic diseases [RCV002592541] |
Chr1:207471062 [GRCh38]
Chr1:207644407 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2411C>T (p.Ser804Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001914088] |
Chr1:207474911 [GRCh38]
Chr1:207648256 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2337C>G (p.His779Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002041972] |
Chr1:207474837 [GRCh38]
Chr1:207648182 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3239G>A (p.Arg1080Gln) |
single nucleotide variant |
CR2-related disorder [RCV001825240] |
Chr1:207485514 [GRCh38]
Chr1:207658859 [GRCh37]
Chr1:1q32.2 |
not provided |
| NM_001006658.3(CR2):c.2519G>C (p.Arg840Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001945771] |
Chr1:207475019 [GRCh38]
Chr1:207648364 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.635-8T>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001893389] |
Chr1:207468792 [GRCh38]
Chr1:207642137 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2252C>G (p.Thr751Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001892988] |
Chr1:207474252 [GRCh38]
Chr1:207647597 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3166G>T (p.Val1056Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001889630] |
Chr1:207480031 [GRCh38]
Chr1:207653376 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1417G>A (p.Ala473Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001983213] |
Chr1:207471011 [GRCh38]
Chr1:207644356 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1975A>G (p.Lys659Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001872697] |
Chr1:207473176 [GRCh38]
Chr1:207646521 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3188+14C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001962359] |
Chr1:207480067 [GRCh38]
Chr1:207653412 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.58+19C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001978231] |
Chr1:207454495 [GRCh38]
Chr1:207627840 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2578A>G (p.Lys860Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001942775]|Inborn genetic diseases [RCV004040320] |
Chr1:207475078 [GRCh38]
Chr1:207648423 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1225+6T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001962573] |
Chr1:207470108 [GRCh38]
Chr1:207643453 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1653G>A (p.Thr551=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002027428]|not provided [RCV004809733] |
Chr1:207472854 [GRCh38]
Chr1:207646199 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.3089-1G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001942839] |
Chr1:207479256 [GRCh38]
Chr1:207652601 [GRCh37]
Chr1:1q32.2 |
likely pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2816G>A (p.Cys939Tyr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001887514] |
Chr1:207476333 [GRCh38]
Chr1:207649678 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1937C>T (p.Ala646Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002038737] |
Chr1:207473138 [GRCh38]
Chr1:207646483 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.485A>G (p.Asn162Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001943554]|not provided [RCV003442962] |
Chr1:207468566 [GRCh38]
Chr1:207641911 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1511G>T (p.Ser504Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001917668] |
Chr1:207471440 [GRCh38]
Chr1:207644785 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2879G>A (p.Ser960Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002029553] |
Chr1:207476396 [GRCh38]
Chr1:207649741 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.824T>C (p.Phe275Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001976620]|Inborn genetic diseases [RCV002573503] |
Chr1:207469701 [GRCh38]
Chr1:207643046 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2297G>T (p.Trp766Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002016186] |
Chr1:207474297 [GRCh38]
Chr1:207647642 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.317C>T (p.Thr106Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002011641] |
Chr1:207466784 [GRCh38]
Chr1:207640129 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.980T>C (p.Val327Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002046796] |
Chr1:207469857 [GRCh38]
Chr1:207643202 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1928G>T (p.Arg643Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002049328] |
Chr1:207473129 [GRCh38]
Chr1:207646474 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1372G>A (p.Val458Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001992326] |
Chr1:207470886 [GRCh38]
Chr1:207644231 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.283A>G (p.Ile95Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001903184] |
Chr1:207466750 [GRCh38]
Chr1:207640095 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1295G>C (p.Gly432Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001991477] |
Chr1:207470809 [GRCh38]
Chr1:207644154 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.166C>T (p.Arg56Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001919737] |
Chr1:207466633 [GRCh38]
Chr1:207639978 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.911C>T (p.Thr304Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001866608] |
Chr1:207469788 [GRCh38]
Chr1:207643133 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NC_000001.10:g.(?_206941981)_(208391267_?)dup |
duplication |
Immunodeficiency, common variable, 7 [RCV001939950]|Inflammatory bowel disease [RCV001916125] |
Chr1:206941981..208391267 [GRCh37]
Chr1:1q32.1-32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1868A>G (p.Asn623Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001900204] |
Chr1:207473069 [GRCh38]
Chr1:207646414 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1789C>G (p.Leu597Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001897584] |
Chr1:207472990 [GRCh38]
Chr1:207646335 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1099G>A (p.Asp367Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002030449] |
Chr1:207469976 [GRCh38]
Chr1:207643321 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2110T>C (p.Cys704Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002010127] |
Chr1:207473676 [GRCh38]
Chr1:207647021 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2775C>A (p.Asn925Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001867059] |
Chr1:207476292 [GRCh38]
Chr1:207649637 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.32T>C (p.Leu11Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001930809]|Inborn genetic diseases [RCV004975878] |
Chr1:207454450 [GRCh38]
Chr1:207627795 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3088+1G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001906311] |
Chr1:207478071 [GRCh38]
Chr1:207651416 [GRCh37]
Chr1:1q32.2 |
likely pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.3074C>T (p.Ala1025Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001999391] |
Chr1:207478056 [GRCh38]
Chr1:207651401 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2791C>T (p.Pro931Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001935999] |
Chr1:207476308 [GRCh38]
Chr1:207649653 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2643G>C (p.Met881Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001925133] |
Chr1:207475143 [GRCh38]
Chr1:207648488 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1334T>G (p.Leu445Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002034309] |
Chr1:207470848 [GRCh38]
Chr1:207644193 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3032A>G (p.Gln1011Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001883872] |
Chr1:207478014 [GRCh38]
Chr1:207651359 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2087T>C (p.Leu696Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001954589]|Inborn genetic diseases [RCV002557801] |
Chr1:207473653 [GRCh38]
Chr1:207646998 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1958A>G (p.Glu653Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001903931] |
Chr1:207473159 [GRCh38]
Chr1:207646504 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.734+5G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001999368] |
Chr1:207468904 [GRCh38]
Chr1:207642249 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1618G>T (p.Gly540Trp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001973158]|not provided [RCV004691479] |
Chr1:207472819 [GRCh38]
Chr1:207646164 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1163G>A (p.Ser388Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001915618] |
Chr1:207470040 [GRCh38]
Chr1:207643385 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.523C>T (p.Pro175Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002014768] |
Chr1:207468604 [GRCh38]
Chr1:207641949 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1652C>T (p.Thr551Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002012257] |
Chr1:207472853 [GRCh38]
Chr1:207646198 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3057A>G (p.Gln1019=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001906674] |
Chr1:207478039 [GRCh38]
Chr1:207651384 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.1928G>A (p.Arg643His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001907200] |
Chr1:207473129 [GRCh38]
Chr1:207646474 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2734C>T (p.Pro912Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001952458] |
Chr1:207476251 [GRCh38]
Chr1:207649596 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2105T>G (p.Ile702Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001973613] |
Chr1:207473671 [GRCh38]
Chr1:207647016 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2206C>T (p.Arg736Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002013913] |
Chr1:207473851 [GRCh38]
Chr1:207647196 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2990C>T (p.Thr997Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002018041]|Inborn genetic diseases [RCV002545555] |
Chr1:207477972 [GRCh38]
Chr1:207651317 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1523A>G (p.Glu508Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001924913] |
Chr1:207471452 [GRCh38]
Chr1:207644797 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2144C>T (p.Pro715Leu) |
single nucleotide variant |
CR2-related disorder [RCV004738487]|Immunodeficiency, common variable, 7 [RCV001989371]|Inborn genetic diseases [RCV002625358] |
Chr1:207473710 [GRCh38]
Chr1:207647055 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1966G>A (p.Val656Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001932247] |
Chr1:207473167 [GRCh38]
Chr1:207646512 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.507T>A (p.Asn169Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001903378] |
Chr1:207468588 [GRCh38]
Chr1:207641933 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2792C>T (p.Pro931Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002035924] |
Chr1:207476309 [GRCh38]
Chr1:207649654 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2882A>T (p.Gln961Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001982186] |
Chr1:207476399 [GRCh38]
Chr1:207649744 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1094A>G (p.Gln365Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002019278] |
Chr1:207469971 [GRCh38]
Chr1:207643316 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1655T>C (p.Val552Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001961195] |
Chr1:207472856 [GRCh38]
Chr1:207646201 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.182A>C (p.Lys61Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001932153] |
Chr1:207466649 [GRCh38]
Chr1:207639994 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2716+2T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002016192] |
Chr1:207475218 [GRCh38]
Chr1:207648563 [GRCh37]
Chr1:1q32.2 |
likely pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2864_2865del (p.His955fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV001973068] |
Chr1:207476381..207476382 [GRCh38]
Chr1:207649726..207649727 [GRCh37]
Chr1:1q32.2 |
pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.3188+2del |
deletion |
Immunodeficiency, common variable, 7 [RCV002029129] |
Chr1:207480055 [GRCh38]
Chr1:207653400 [GRCh37]
Chr1:1q32.2 |
likely pathogenic|uncertain significance |
| NM_001006658.3(CR2):c.2851CTT[1] (p.Leu952del) |
microsatellite |
Immunodeficiency, common variable, 7 [RCV001899275] |
Chr1:207476368..207476370 [GRCh38]
Chr1:207649713..207649715 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2132G>A (p.Ser711Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV001979217]|Inborn genetic diseases [RCV002569222] |
Chr1:207473698 [GRCh38]
Chr1:207647043 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3088+16T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002126703] |
Chr1:207478086 [GRCh38]
Chr1:207651431 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1493+11G>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002208865] |
Chr1:207471098 [GRCh38]
Chr1:207644443 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1833C>T (p.Tyr611=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002207396] |
Chr1:207473034 [GRCh38]
Chr1:207646379 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2067T>C (p.Thr689=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002108972] |
Chr1:207473633 [GRCh38]
Chr1:207646978 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-12T>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002087791] |
Chr1:207466514 [GRCh38]
Chr1:207639859 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3267C>T (p.Asn1089=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002146540] |
Chr1:207485542 [GRCh38]
Chr1:207658887 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.446-19C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002208213] |
Chr1:207468508 [GRCh38]
Chr1:207641853 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1226-6A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002190139] |
Chr1:207470734 [GRCh38]
Chr1:207644079 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2043C>T (p.Val681=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002209439] |
Chr1:207473609 [GRCh38]
Chr1:207646954 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.249A>G (p.Glu83=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002166893] |
Chr1:207466716 [GRCh38]
Chr1:207640061 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1570+20T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002086338] |
Chr1:207471519 [GRCh38]
Chr1:207644864 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1605T>C (p.Asn535=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002210035] |
Chr1:207472806 [GRCh38]
Chr1:207646151 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1494-14G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002206945] |
Chr1:207471409 [GRCh38]
Chr1:207644754 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2496C>T (p.Ser832=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002105358] |
Chr1:207474996 [GRCh38]
Chr1:207648341 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.363C>T (p.Asn121=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002108402] |
Chr1:207466830 [GRCh38]
Chr1:207640175 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.897C>T (p.Ser299=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002081130] |
Chr1:207469774 [GRCh38]
Chr1:207643119 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.58+12G>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002214724] |
Chr1:207454488 [GRCh38]
Chr1:207627833 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.789T>C (p.Val263=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002207770] |
Chr1:207469204 [GRCh38]
Chr1:207642549 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2760C>T (p.Asn920=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002089496] |
Chr1:207476277 [GRCh38]
Chr1:207649622 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1122T>C (p.Thr374=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002116628] |
Chr1:207469999 [GRCh38]
Chr1:207643344 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3189-18C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002115503]|not provided [RCV004711812] |
Chr1:207485446 [GRCh38]
Chr1:207658791 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.817+13A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002152749] |
Chr1:207469245 [GRCh38]
Chr1:207642590 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1225+19A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002131485] |
Chr1:207470121 [GRCh38]
Chr1:207643466 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.978A>G (p.Thr326=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002129077] |
Chr1:207469855 [GRCh38]
Chr1:207643200 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3088+14G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002092797] |
Chr1:207478084 [GRCh38]
Chr1:207651429 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.612T>C (p.Ser204=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002188796] |
Chr1:207468693 [GRCh38]
Chr1:207642038 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3188+15G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002195003] |
Chr1:207480068 [GRCh38]
Chr1:207653413 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3089-3del |
deletion |
Immunodeficiency, common variable, 7 [RCV002150707] |
Chr1:207479250 [GRCh38]
Chr1:207652595 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.2240+17C>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002192670] |
Chr1:207473902 [GRCh38]
Chr1:207647247 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1225+14T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002103747] |
Chr1:207470116 [GRCh38]
Chr1:207643461 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1215C>T (p.Val405=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002119385] |
Chr1:207470092 [GRCh38]
Chr1:207643437 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-10T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002157921] |
Chr1:207466516 [GRCh38]
Chr1:207639861 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1493+11G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002102153] |
Chr1:207471098 [GRCh38]
Chr1:207644443 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2358T>C (p.Asn786=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002179491] |
Chr1:207474858 [GRCh38]
Chr1:207648203 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1410G>C (p.Ala470=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002183428] |
Chr1:207471004 [GRCh38]
Chr1:207644349 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1403-11T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002176596] |
Chr1:207470986 [GRCh38]
Chr1:207644331 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1295G>A (p.Gly432Glu) |
single nucleotide variant |
CR2-related disorder [RCV004548216]|Immunodeficiency, common variable, 7 [RCV002159292] |
Chr1:207470809 [GRCh38]
Chr1:207644154 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3088+15C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002119411] |
Chr1:207478085 [GRCh38]
Chr1:207651430 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.231A>G (p.Lys77=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002157603] |
Chr1:207466698 [GRCh38]
Chr1:207640043 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1494-17C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002179036] |
Chr1:207471406 [GRCh38]
Chr1:207644751 [GRCh37]
Chr1:1q32.2 |
benign |
| NM_001006658.3(CR2):c.81G>A (p.Pro27=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002140509] |
Chr1:207466548 [GRCh38]
Chr1:207639893 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1149C>T (p.Phe383=) |
single nucleotide variant |
CR2-related disorder [RCV004553781]|Immunodeficiency, common variable, 7 [RCV002101775]|not provided [RCV004711841] |
Chr1:207470026 [GRCh38]
Chr1:207643371 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.993G>A (p.Lys331=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002177361] |
Chr1:207469870 [GRCh38]
Chr1:207643215 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3198T>C (p.Tyr1066=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002098239] |
Chr1:207485473 [GRCh38]
Chr1:207658818 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-17C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002103706] |
Chr1:207466509 [GRCh38]
Chr1:207639854 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1571-6C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002140880] |
Chr1:207472766 [GRCh38]
Chr1:207646111 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3088+18C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002160525] |
Chr1:207478088 [GRCh38]
Chr1:207651433 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2324-17C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002159364] |
Chr1:207474807 [GRCh38]
Chr1:207648152 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2064C>T (p.Tyr688=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002135700] |
Chr1:207473630 [GRCh38]
Chr1:207646975 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.435C>T (p.Thr145=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002161863] |
Chr1:207466902 [GRCh38]
Chr1:207640247 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1383C>G (p.Pro461=) |
single nucleotide variant |
CR2-related disorder [RCV004553805]|Immunodeficiency, common variable, 7 [RCV002121666] |
Chr1:207470897 [GRCh38]
Chr1:207644242 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3188+18T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002176610] |
Chr1:207480071 [GRCh38]
Chr1:207653416 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1410G>A (p.Ala470=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002155160] |
Chr1:207471004 [GRCh38]
Chr1:207644349 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1225+12G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002184555]|not provided [RCV004711895] |
Chr1:207470114 [GRCh38]
Chr1:207643459 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-20G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002161049] |
Chr1:207466506 [GRCh38]
Chr1:207639851 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003115503]|Inborn genetic diseases [RCV003384356] |
Chr1:207485481 [GRCh38]
Chr1:207658826 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3207A>G (p.Thr1069=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003115504] |
Chr1:207485482 [GRCh38]
Chr1:207658827 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3209_3211del (p.Ser1070_Gln1071delinsLys) |
deletion |
Immunodeficiency, common variable, 7 [RCV003115505] |
Chr1:207485484..207485486 [GRCh38]
Chr1:207658829..207658831 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NC_000001.10:g.(?_200522516)_(208391267_?)dup |
duplication |
Hypokalemic periodic paralysis, type 1 [RCV003119239]|not provided [RCV003119240] |
Chr1:200522516..208391267 [GRCh37]
Chr1:1q32.1-32.2 |
uncertain significance|no classifications from unflagged records |
| NM_001006658.3(CR2):c.1325G>A (p.Gly442Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003121738] |
Chr1:207470839 [GRCh38]
Chr1:207644184 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.624dup (p.Thr209fs) |
duplication |
Immunodeficiency, common variable, 7 [RCV002243562] |
Chr1:207468698..207468699 [GRCh38]
Chr1:207642043..207642044 [GRCh37]
Chr1:1q32.2 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3 |
copy number gain |
See cases [RCV002287837] |
Chr1:197867914..249224684 [GRCh37]
Chr1:1q31.3-44 |
pathogenic |
| NM_001006658.3(CR2):c.1807T>G (p.Ser603Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002297356] |
Chr1:207473008 [GRCh38]
Chr1:207646353 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.878C>G (p.Ala293Gly) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002297458] |
Chr1:207469755 [GRCh38]
Chr1:207643100 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2911T>C (p.Cys971Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002304638] |
Chr1:207477893 [GRCh38]
Chr1:207651238 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2258A>G (p.His753Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002302003] |
Chr1:207474258 [GRCh38]
Chr1:207647603 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.193T>C (p.Cys65Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002299715] |
Chr1:207466660 [GRCh38]
Chr1:207640005 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2090T>C (p.Val697Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002301153] |
Chr1:207473656 [GRCh38]
Chr1:207647001 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.647A>T (p.Lys216Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002859769] |
Chr1:207468812 [GRCh38]
Chr1:207642157 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2223T>C (p.Asn741=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002613905] |
Chr1:207473868 [GRCh38]
Chr1:207647213 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2638A>G (p.Ile880Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003033524] |
Chr1:207475138 [GRCh38]
Chr1:207648483 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1402+17G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002908290] |
Chr1:207470933 [GRCh38]
Chr1:207644278 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.527G>T (p.Gly176Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002908331] |
Chr1:207468608 [GRCh38]
Chr1:207641953 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1736A>G (p.Asn579Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002971082] |
Chr1:207472937 [GRCh38]
Chr1:207646282 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.54C>T (p.Val18=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003034775] |
Chr1:207454472 [GRCh38]
Chr1:207627817 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.412del (p.Trp138fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV003015398] |
Chr1:207466879 [GRCh38]
Chr1:207640224 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.2168A>T (p.His723Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003033472] |
Chr1:207473813 [GRCh38]
Chr1:207647158 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.58+13G>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003016778] |
Chr1:207454489 [GRCh38]
Chr1:207627834 [GRCh37]
Chr1:1q32.2 |
likely benign |
| GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3 |
copy number gain |
not provided [RCV002475637] |
Chr1:181453460..213107248 [GRCh37]
Chr1:1q25.3-32.3 |
pathogenic |
| NM_001006658.3(CR2):c.1706T>C (p.Ile569Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002838184] |
Chr1:207472907 [GRCh38]
Chr1:207646252 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002903259] |
Chr1:207470745 [GRCh38]
Chr1:207644090 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1558C>A (p.Arg520Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002728829] |
Chr1:207471487 [GRCh38]
Chr1:207644832 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3049G>A (p.Asp1017Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002816046] |
Chr1:207478031 [GRCh38]
Chr1:207651376 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3147G>A (p.Leu1049=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002881857] |
Chr1:207480012 [GRCh38]
Chr1:207653357 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.457G>A (p.Glu153Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002775293] |
Chr1:207468538 [GRCh38]
Chr1:207641883 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1978+20G>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003074464] |
Chr1:207473199 [GRCh38]
Chr1:207646544 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2963A>C (p.Lys988Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002731091] |
Chr1:207477945 [GRCh38]
Chr1:207651290 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2566T>C (p.Tyr856His) |
single nucleotide variant |
Inborn genetic diseases [RCV002728552] |
Chr1:207475066 [GRCh38]
Chr1:207648411 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2155+7T>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003016904] |
Chr1:207473728 [GRCh38]
Chr1:207647073 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.800A>G (p.Lys267Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002905657] |
Chr1:207469215 [GRCh38]
Chr1:207642560 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.492T>C (p.His164=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003075669] |
Chr1:207468573 [GRCh38]
Chr1:207641918 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.659G>T (p.Arg220Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002775311] |
Chr1:207468824 [GRCh38]
Chr1:207642169 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.556G>T (p.Gly186Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002690204] |
Chr1:207468637 [GRCh38]
Chr1:207641982 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.691A>G (p.Ile231Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002819359] |
Chr1:207468856 [GRCh38]
Chr1:207642201 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1391C>T (p.Pro464Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002755909] |
Chr1:207470905 [GRCh38]
Chr1:207644250 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.156A>G (p.Ser52=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002847266] |
Chr1:207466623 [GRCh38]
Chr1:207639968 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.141A>G (p.Ile47Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002707925] |
Chr1:207466608 [GRCh38]
Chr1:207639953 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1511G>C (p.Ser504Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002799822] |
Chr1:207471440 [GRCh38]
Chr1:207644785 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.955G>A (p.Gly319Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002570914] |
Chr1:207469832 [GRCh38]
Chr1:207643177 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3201A>G (p.Thr1067=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003002377] |
Chr1:207485476 [GRCh38]
Chr1:207658821 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2117C>T (p.Pro706Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002694879] |
Chr1:207473683 [GRCh38]
Chr1:207647028 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.59-5T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002870714] |
Chr1:207466521 [GRCh38]
Chr1:207639866 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1558C>T (p.Arg520Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002640244] |
Chr1:207471487 [GRCh38]
Chr1:207644832 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2873C>A (p.Thr958Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003019770]|Inborn genetic diseases [RCV003019771] |
Chr1:207476390 [GRCh38]
Chr1:207649735 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.98G>A (p.Arg33Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002590442] |
Chr1:207466565 [GRCh38]
Chr1:207639910 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1225G>A (p.Glu409Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002796253] |
Chr1:207470102 [GRCh38]
Chr1:207643447 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1403-14G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002591205] |
Chr1:207470983 [GRCh38]
Chr1:207644328 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.213G>A (p.Val71=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002885626] |
Chr1:207466680 [GRCh38]
Chr1:207640025 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2607C>T (p.Asp869=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002658998] |
Chr1:207475107 [GRCh38]
Chr1:207648452 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1844G>T (p.Gly615Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002619531]|Inborn genetic diseases [RCV004069028] |
Chr1:207473045 [GRCh38]
Chr1:207646390 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1848G>T (p.Lys616Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002780494] |
Chr1:207473049 [GRCh38]
Chr1:207646394 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1853C>T (p.Ala618Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002705804] |
Chr1:207473054 [GRCh38]
Chr1:207646399 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3089-11A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002734933] |
Chr1:207479246 [GRCh38]
Chr1:207652591 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2322A>T (p.Lys774Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003052812] |
Chr1:207474322 [GRCh38]
Chr1:207647667 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1174C>T (p.Arg392Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002620324] |
Chr1:207470051 [GRCh38]
Chr1:207643396 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1403-7_1403-6del |
deletion |
Immunodeficiency, common variable, 7 [RCV002824110] |
Chr1:207470988..207470989 [GRCh38]
Chr1:207644333..207644334 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2156-14C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002570181] |
Chr1:207473787 [GRCh38]
Chr1:207647132 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.184A>C (p.Ser62Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002706449] |
Chr1:207466651 [GRCh38]
Chr1:207639996 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.417G>A (p.Gly139=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002761288] |
Chr1:207466884 [GRCh38]
Chr1:207640229 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1236C>A (p.Ala412=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002979625] |
Chr1:207470750 [GRCh38]
Chr1:207644095 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3210C>T (p.Ser1070=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002866186] |
Chr1:207485485 [GRCh38]
Chr1:207658830 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.370A>G (p.Met124Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002636987]|Inborn genetic diseases [RCV004070536] |
Chr1:207466837 [GRCh38]
Chr1:207640182 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.749G>A (p.Gly250Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002620563] |
Chr1:207469164 [GRCh38]
Chr1:207642509 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2992C>G (p.Leu998Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002592354] |
Chr1:207477974 [GRCh38]
Chr1:207651319 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2394A>T (p.Leu798=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002706781] |
Chr1:207474894 [GRCh38]
Chr1:207648239 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1389A>G (p.Val463=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003020161] |
Chr1:207470903 [GRCh38]
Chr1:207644248 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1633G>C (p.Asp545His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003038554] |
Chr1:207472834 [GRCh38]
Chr1:207646179 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3189-8C>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002848069] |
Chr1:207485456 [GRCh38]
Chr1:207658801 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.888A>G (p.Ser296=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002885027] |
Chr1:207469765 [GRCh38]
Chr1:207643110 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2571G>A (p.Lys857=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003020221] |
Chr1:207475071 [GRCh38]
Chr1:207648416 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1225+11C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002638567] |
Chr1:207470113 [GRCh38]
Chr1:207643458 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1352T>A (p.Ile451Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003777901]|Inborn genetic diseases [RCV002870551] |
Chr1:207470866 [GRCh38]
Chr1:207644211 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2460G>T (p.Gln820His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003056713] |
Chr1:207474960 [GRCh38]
Chr1:207648305 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.9C>T (p.Ala3=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002667271]|not provided [RCV003883833] |
Chr1:207454427 [GRCh38]
Chr1:207627772 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1069C>T (p.Leu357=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003085550] |
Chr1:207469946 [GRCh38]
Chr1:207643291 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1720A>G (p.Ile574Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002699995] |
Chr1:207472921 [GRCh38]
Chr1:207646266 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3166G>A (p.Val1056Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002701693] |
Chr1:207480031 [GRCh38]
Chr1:207653376 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1484G>A (p.Cys495Tyr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002644484] |
Chr1:207471078 [GRCh38]
Chr1:207644423 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1840T>C (p.Ser614Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002892522] |
Chr1:207473041 [GRCh38]
Chr1:207646386 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002572953] |
Chr1:207474244 [GRCh38]
Chr1:207647589 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.2257C>T (p.His753Tyr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003056722] |
Chr1:207474257 [GRCh38]
Chr1:207647602 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2692G>T (p.Gly898Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002891123] |
Chr1:207475192 [GRCh38]
Chr1:207648537 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2534C>T (p.Thr845Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002766156] |
Chr1:207475034 [GRCh38]
Chr1:207648379 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1716C>T (p.Ser572=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003024416] |
Chr1:207472917 [GRCh38]
Chr1:207646262 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1996G>A (p.Gly666Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002916289] |
Chr1:207473562 [GRCh38]
Chr1:207646907 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1877_1878del (p.Val626fs) |
microsatellite |
Immunodeficiency, common variable, 7 [RCV003057648] |
Chr1:207473076..207473077 [GRCh38]
Chr1:207646421..207646422 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.2323+16T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002893959] |
Chr1:207474339 [GRCh38]
Chr1:207647684 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2423del (p.Asp808fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV003084767] |
Chr1:207474923 [GRCh38]
Chr1:207648268 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.67T>C (p.Cys23Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002765545]|Inborn genetic diseases [RCV002765546] |
Chr1:207466534 [GRCh38]
Chr1:207639879 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1591C>T (p.Pro531Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002741870] |
Chr1:207472792 [GRCh38]
Chr1:207646137 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1978+19G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002958631] |
Chr1:207473198 [GRCh38]
Chr1:207646543 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1979-16G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002894679] |
Chr1:207473529 [GRCh38]
Chr1:207646874 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.438T>G (p.Cys146Trp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003005267] |
Chr1:207466905 [GRCh38]
Chr1:207640250 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.862A>T (p.Ile288Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002801330] |
Chr1:207469739 [GRCh38]
Chr1:207643084 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2035T>G (p.Phe679Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002574084] |
Chr1:207473601 [GRCh38]
Chr1:207646946 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2240+1G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002852203] |
Chr1:207473886 [GRCh38]
Chr1:207647231 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.3045A>G (p.Gln1015=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002626153] |
Chr1:207478027 [GRCh38]
Chr1:207651372 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2211G>A (p.Val737=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003040995] |
Chr1:207473856 [GRCh38]
Chr1:207647201 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2620G>A (p.Asp874Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002573946]|Inborn genetic diseases [RCV004973443] |
Chr1:207475120 [GRCh38]
Chr1:207648465 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2081A>G (p.Tyr694Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003778585]|Inborn genetic diseases [RCV002699255] |
Chr1:207473647 [GRCh38]
Chr1:207646992 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2755G>A (p.Gly919Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002938435] |
Chr1:207476272 [GRCh38]
Chr1:207649617 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1009_1011dup (p.Gly337_Pro338insGly) |
duplication |
Immunodeficiency, common variable, 7 [RCV002942051] |
Chr1:207469885..207469886 [GRCh38]
Chr1:207643230..207643231 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.431C>T (p.Pro144Leu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003045086] |
Chr1:207466898 [GRCh38]
Chr1:207640243 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1318A>G (p.Asn440Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003047745] |
Chr1:207470832 [GRCh38]
Chr1:207644177 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2759A>C (p.Asn920Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003046744] |
Chr1:207476276 [GRCh38]
Chr1:207649621 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.202A>G (p.Lys68Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002675731] |
Chr1:207466669 [GRCh38]
Chr1:207640014 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1713G>C (p.Glu571Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002941032] |
Chr1:207472914 [GRCh38]
Chr1:207646259 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2596T>C (p.Ser866Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002601306] |
Chr1:207475096 [GRCh38]
Chr1:207648441 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.818-12C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003086614] |
Chr1:207469683 [GRCh38]
Chr1:207643028 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1056A>G (p.Pro352=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002602541] |
Chr1:207469933 [GRCh38]
Chr1:207643278 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1459G>A (p.Val487Ile) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003063731] |
Chr1:207471053 [GRCh38]
Chr1:207644398 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.635-3T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002602504] |
Chr1:207468797 [GRCh38]
Chr1:207642142 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1206T>C (p.Ser402=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003086115] |
Chr1:207470083 [GRCh38]
Chr1:207643428 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1159G>T (p.Gly387Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002810452] |
Chr1:207470036 [GRCh38]
Chr1:207643381 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2150G>T (p.Cys717Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002922748] |
Chr1:207473716 [GRCh38]
Chr1:207647061 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1619G>A (p.Gly540Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003009921] |
Chr1:207472820 [GRCh38]
Chr1:207646165 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1559G>C (p.Arg520Pro) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002597810] |
Chr1:207471488 [GRCh38]
Chr1:207644833 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2397T>C (p.Tyr799=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002877314] |
Chr1:207474897 [GRCh38]
Chr1:207648242 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.192A>T (p.Leu64Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002895628] |
Chr1:207466659 [GRCh38]
Chr1:207640004 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1978+10C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003086544] |
Chr1:207473189 [GRCh38]
Chr1:207646534 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.782A>G (p.Gln261Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002629069]|Inborn genetic diseases [RCV004070811] |
Chr1:207469197 [GRCh38]
Chr1:207642542 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1857A>G (p.Pro619=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002856179] |
Chr1:207473058 [GRCh38]
Chr1:207646403 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.698G>A (p.Arg233Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002579071] |
Chr1:207468863 [GRCh38]
Chr1:207642208 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2973G>T (p.Gln991His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002675634] |
Chr1:207477955 [GRCh38]
Chr1:207651300 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1648A>G (p.Thr550Ala) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002811850] |
Chr1:207472849 [GRCh38]
Chr1:207646194 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2805C>T (p.Ile935=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002807009] |
Chr1:207476322 [GRCh38]
Chr1:207649667 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.557G>A (p.Gly186Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003087541] |
Chr1:207468638 [GRCh38]
Chr1:207641983 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1106A>G (p.Tyr369Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002831867] |
Chr1:207469983 [GRCh38]
Chr1:207643328 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2323+5G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002857180] |
Chr1:207474328 [GRCh38]
Chr1:207647673 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.909C>T (p.Tyr303=) |
single nucleotide variant |
CR2-related disorder [RCV004550390]|Immunodeficiency, common variable, 7 [RCV003086117] |
Chr1:207469786 [GRCh38]
Chr1:207643131 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.369C>T (p.Ser123=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003060247] |
Chr1:207466836 [GRCh38]
Chr1:207640181 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1236C>G (p.Ala412=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002857365] |
Chr1:207470750 [GRCh38]
Chr1:207644095 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1978+9C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002857414] |
Chr1:207473188 [GRCh38]
Chr1:207646533 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-13T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002580287] |
Chr1:207466513 [GRCh38]
Chr1:207639858 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1340G>C (p.Gly447Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002878429] |
Chr1:207470854 [GRCh38]
Chr1:207644199 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2225C>T (p.Thr742Met) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003065173]|not provided [RCV003418733] |
Chr1:207473870 [GRCh38]
Chr1:207647215 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.2716+15_2716+19del |
deletion |
Immunodeficiency, common variable, 7 [RCV002746536] |
Chr1:207475228..207475232 [GRCh38]
Chr1:207648573..207648577 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3176A>G (p.Lys1059Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002602995]|Inborn genetic diseases [RCV004614365] |
Chr1:207480041 [GRCh38]
Chr1:207653386 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2086C>G (p.Leu696Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005099529]|Inborn genetic diseases [RCV002678489] |
Chr1:207473652 [GRCh38]
Chr1:207646997 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2250G>A (p.Leu750=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002944040] |
Chr1:207474250 [GRCh38]
Chr1:207647595 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1466C>G (p.Pro489Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003050462] |
Chr1:207471060 [GRCh38]
Chr1:207644405 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.764G>A (p.Arg255Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002943191] |
Chr1:207469179 [GRCh38]
Chr1:207642524 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1494-16G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003072679] |
Chr1:207471407 [GRCh38]
Chr1:207644752 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3270A>G (p.Pro1090=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002942768] |
Chr1:207485545 [GRCh38]
Chr1:207658890 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2479G>C (p.Gly827Arg) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002721408] |
Chr1:207474979 [GRCh38]
Chr1:207648324 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1570+5G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002588489] |
Chr1:207471504 [GRCh38]
Chr1:207644849 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2411C>G (p.Ser804Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003069299] |
Chr1:207474911 [GRCh38]
Chr1:207648256 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3068C>A (p.Pro1023His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002613158]|not provided [RCV003883831] |
Chr1:207478050 [GRCh38]
Chr1:207651395 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2240+8T>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002721844] |
Chr1:207473893 [GRCh38]
Chr1:207647238 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.504G>A (p.Glu168=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002611311] |
Chr1:207468585 [GRCh38]
Chr1:207641930 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3248A>T (p.Tyr1083Phe) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002635112] |
Chr1:207485523 [GRCh38]
Chr1:207658868 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1283G>A (p.Arg428His) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV002606689] |
Chr1:207470797 [GRCh38]
Chr1:207644142 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2997G>T (p.Glu999Asp) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003145880] |
Chr1:207477979 [GRCh38]
Chr1:207651324 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.306T>G (p.Ile102Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003191785] |
Chr1:207466773 [GRCh38]
Chr1:207640118 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1103G>A (p.Arg368Gln) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003140428] |
Chr1:207469980 [GRCh38]
Chr1:207643325 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1015G>T (p.Ala339Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003142334] |
Chr1:207469892 [GRCh38]
Chr1:207643237 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2618T>C (p.Val873Ala) |
single nucleotide variant |
not provided [RCV003222653] |
Chr1:207475118 [GRCh38]
Chr1:207648463 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1381C>T (p.Pro461Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003200434] |
Chr1:207470895 [GRCh38]
Chr1:207644240 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.553T>C (p.Ser185Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003199422] |
Chr1:207468634 [GRCh38]
Chr1:207641979 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1673C>A (p.Pro558His) |
single nucleotide variant |
not provided [RCV003222652] |
Chr1:207472874 [GRCh38]
Chr1:207646219 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3112G>A (p.Gly1038Ser) |
single nucleotide variant |
Systemic lupus erythematosus, susceptibility to, 9 [RCV003224663] |
Chr1:207479280 [GRCh38]
Chr1:207652625 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2040del (p.Phe680fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV003325265] |
Chr1:207473604 [GRCh38]
Chr1:207646949 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.3088+1G>T |
single nucleotide variant |
CR2-related disorder [RCV004548694] |
Chr1:207478071 [GRCh38]
Chr1:207651416 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.420G>A (p.Pro140=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003831474] |
Chr1:207466887 [GRCh38]
Chr1:207640232 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.822T>C (p.Ile274=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646728] |
Chr1:207469699 [GRCh38]
Chr1:207643044 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2394A>G (p.Leu798=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646794] |
Chr1:207474894 [GRCh38]
Chr1:207648239 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1524G>A (p.Glu508=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646165] |
Chr1:207471453 [GRCh38]
Chr1:207644798 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3088+19A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646115] |
Chr1:207478089 [GRCh38]
Chr1:207651434 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2716+9C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646189] |
Chr1:207475225 [GRCh38]
Chr1:207648570 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1571-11C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646219] |
Chr1:207472761 [GRCh38]
Chr1:207646106 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.723C>T (p.Phe241=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646819] |
Chr1:207468888 [GRCh38]
Chr1:207642233 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3102T>C (p.Pro1034=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003645973] |
Chr1:207479270 [GRCh38]
Chr1:207652615 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.817+14C>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646546] |
Chr1:207469246 [GRCh38]
Chr1:207642591 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.446-12G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003647098] |
Chr1:207468515 [GRCh38]
Chr1:207641860 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.42C>T (p.Val14=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646044] |
Chr1:207454460 [GRCh38]
Chr1:207627805 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2007T>C (p.His669=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646051] |
Chr1:207473573 [GRCh38]
Chr1:207646918 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.765G>T (p.Arg255=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646073] |
Chr1:207469180 [GRCh38]
Chr1:207642525 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1102C>T (p.Arg368Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003647199] |
Chr1:207469979 [GRCh38]
Chr1:207643324 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1403-17C>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003647076] |
Chr1:207470980 [GRCh38]
Chr1:207644325 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.39C>G (p.Leu13=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646026] |
Chr1:207454457 [GRCh38]
Chr1:207627802 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1979-19A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646545] |
Chr1:207473526 [GRCh38]
Chr1:207646871 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1571-16C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646563] |
Chr1:207472756 [GRCh38]
Chr1:207646101 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.768T>C (p.Cys256=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646104] |
Chr1:207469183 [GRCh38]
Chr1:207642528 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1194A>G (p.Thr398=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646202] |
Chr1:207470071 [GRCh38]
Chr1:207643416 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646832] |
Chr1:207485505 [GRCh38]
Chr1:207658850 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.2019A>G (p.Thr673=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646855] |
Chr1:207473585 [GRCh38]
Chr1:207646930 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2499G>T (p.Gly833=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646246] |
Chr1:207474999 [GRCh38]
Chr1:207648344 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.120C>T (p.Pro40=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003647040] |
Chr1:207466587 [GRCh38]
Chr1:207639932 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003881412] |
Chr1:207474275 [GRCh38]
Chr1:207647620 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.933A>G (p.Glu311=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646431] |
Chr1:207469810 [GRCh38]
Chr1:207643155 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2664G>T (p.Arg888Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646992] |
Chr1:207475164 [GRCh38]
Chr1:207648509 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.3113-14G>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646380] |
Chr1:207479964 [GRCh38]
Chr1:207653309 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2238T>C (p.Asp746=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646518] |
Chr1:207473883 [GRCh38]
Chr1:207647228 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3088+8C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646521] |
Chr1:207478078 [GRCh38]
Chr1:207651423 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.96C>T (p.Gly32=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646587] |
Chr1:207466563 [GRCh38]
Chr1:207639908 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1493+15A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003645979] |
Chr1:207471102 [GRCh38]
Chr1:207644447 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.40dup (p.Val14fs) |
duplication |
Immunodeficiency, common variable, 7 [RCV003646004] |
Chr1:207454457..207454458 [GRCh38]
Chr1:207627802..207627803 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.671G>A (p.Gly224Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646103] |
Chr1:207468836 [GRCh38]
Chr1:207642181 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.446-13TG[5] |
microsatellite |
Immunodeficiency, common variable, 7 [RCV003646142] |
Chr1:207468513..207468514 [GRCh38]
Chr1:207641858..207641859 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2324-18C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003824680] |
Chr1:207474806 [GRCh38]
Chr1:207648151 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1653G>T (p.Thr551=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003646944] |
Chr1:207472854 [GRCh38]
Chr1:207646199 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2175A>G (p.Arg725=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003532453] |
Chr1:207473820 [GRCh38]
Chr1:207647165 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1671C>A (p.Asn557Lys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005170600] |
Chr1:207472872 [GRCh38]
Chr1:207646217 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2761C>A (p.His921Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003851721] |
Chr1:207476278 [GRCh38]
Chr1:207649623 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.890A>G (p.Tyr297Cys) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003531592]|Inborn genetic diseases [RCV004369293] |
Chr1:207469767 [GRCh38]
Chr1:207643112 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2156-16A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003834373] |
Chr1:207473785 [GRCh38]
Chr1:207647130 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2323+3A>G |
single nucleotide variant |
CR2-related disorder [RCV004554260]|Immunodeficiency, common variable, 7 [RCV003531580] |
Chr1:207474326 [GRCh38]
Chr1:207647671 [GRCh37]
Chr1:1q32.2 |
likely benign|uncertain significance |
| NM_001006658.3(CR2):c.638C>A (p.Ala213Glu) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003532526] |
Chr1:207468803 [GRCh38]
Chr1:207642148 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2487A>G (p.Gly829=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003531615] |
Chr1:207474987 [GRCh38]
Chr1:207648332 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.125C>T (p.Ala42Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003534141] |
Chr1:207466592 [GRCh38]
Chr1:207639937 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003816085] |
Chr1:207471447 [GRCh38]
Chr1:207644792 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.237T>C (p.Ala79=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003817007]|not provided [RCV004711970] |
Chr1:207466704 [GRCh38]
Chr1:207640049 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2280T>C (p.Asp760=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003534071] |
Chr1:207474280 [GRCh38]
Chr1:207647625 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.735-18A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003811724] |
Chr1:207469132 [GRCh38]
Chr1:207642477 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2324-19C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003534183] |
Chr1:207474805 [GRCh38]
Chr1:207648150 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1458del (p.Phe486fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV003531825] |
Chr1:207471050 [GRCh38]
Chr1:207644395 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1402+16T>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003531611] |
Chr1:207470932 [GRCh38]
Chr1:207644277 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1509G>A (p.Gly503=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003845104] |
Chr1:207471438 [GRCh38]
Chr1:207644783 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1333C>G (p.Leu445Val) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003857433] |
Chr1:207470847 [GRCh38]
Chr1:207644192 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.1158G>A (p.Lys386=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003871185] |
Chr1:207470035 [GRCh38]
Chr1:207643380 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3246A>C (p.Val1082=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003869881] |
Chr1:207485521 [GRCh38]
Chr1:207658866 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1570+17A>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003840540] |
Chr1:207471516 [GRCh38]
Chr1:207644861 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV003841859] |
Chr1:207478048..207478066 [GRCh38]
Chr1:207651393..207651411 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1124_1125del (p.Val375fs) |
microsatellite |
Systemic lupus erythematosus, susceptibility to, 9 [RCV003989426] |
Chr1:207469999..207470000 [GRCh38]
Chr1:207643344..207643345 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.1607G>A (p.Gly536Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004374842] |
Chr1:207472808 [GRCh38]
Chr1:207646153 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.236C>T (p.Ala79Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004374843] |
Chr1:207466703 [GRCh38]
Chr1:207640048 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.539C>T (p.Thr180Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004374845]|Systemic lupus erythematosus, susceptibility to, 9 [RCV005015118] |
Chr1:207468620 [GRCh38]
Chr1:207641965 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.733G>A (p.Gly245Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004374847] |
Chr1:207468898 [GRCh38]
Chr1:207642243 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.804G>A (p.Met268Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004374848] |
Chr1:207469219 [GRCh38]
Chr1:207642564 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2979A>G (p.Gly993=) |
single nucleotide variant |
CR2-related disorder [RCV004554517] |
Chr1:207477961 [GRCh38]
Chr1:207651306 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.590G>C (p.Cys197Ser) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV003984955] |
Chr1:207468671 [GRCh38]
Chr1:207642016 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.735G>T (p.Gly245=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV004555521] |
Chr1:207469150 [GRCh38]
Chr1:207642495 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2300T>C (p.Phe767Ser) |
single nucleotide variant |
not provided [RCV003887547] |
Chr1:207474300 [GRCh38]
Chr1:207647645 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.889T>A (p.Tyr297Asn) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005102147]|Inborn genetic diseases [RCV004611199] |
Chr1:207469766 [GRCh38]
Chr1:207643111 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NC_000001.10:g.(?_190829412)_(216061974_?)del |
deletion |
not provided [RCV004579260] |
Chr1:190829412..216061974 [GRCh37]
Chr1:1q31.2-41 |
pathogenic |
| NM_001006658.3(CR2):c.1349C>T (p.Ser450Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004611200] |
Chr1:207470863 [GRCh38]
Chr1:207644208 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.911C>G (p.Thr304Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004611201] |
Chr1:207469788 [GRCh38]
Chr1:207643133 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2747C>A (p.Thr916Asn) |
single nucleotide variant |
not provided [RCV004723784] |
Chr1:207476264 [GRCh38]
Chr1:207649609 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2701A>G (p.Thr901Ala) |
single nucleotide variant |
CR2-related disorder [RCV004729849] |
Chr1:207475201 [GRCh38]
Chr1:207648546 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.532T>C (p.Ser178Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004979157] |
Chr1:207468613 [GRCh38]
Chr1:207641958 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.358A>G (p.Thr120Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004979158] |
Chr1:207466825 [GRCh38]
Chr1:207640170 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.351C>T (p.Ala117=) |
single nucleotide variant |
Inborn genetic diseases [RCV004979156] |
Chr1:207466818 [GRCh38]
Chr1:207640163 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.446-9T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005196104] |
Chr1:207468518 [GRCh38]
Chr1:207641863 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1227A>G (p.Glu409=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005146987] |
Chr1:207470741 [GRCh38]
Chr1:207644086 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.909C>G (p.Tyr303Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005068278] |
Chr1:207469786 [GRCh38]
Chr1:207643131 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.267T>G (p.Ser89=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005067229] |
Chr1:207466734 [GRCh38]
Chr1:207640079 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1493+11G>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005174326] |
Chr1:207471098 [GRCh38]
Chr1:207644443 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2517A>G (p.Leu839=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005171411] |
Chr1:207475017 [GRCh38]
Chr1:207648362 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2454dup (p.Leu819fs) |
duplication |
Immunodeficiency, common variable, 7 [RCV005172216] |
Chr1:207474948..207474949 [GRCh38]
Chr1:207648293..207648294 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1168C>T (p.Gln390Ter) |
single nucleotide variant |
Systemic lupus erythematosus, susceptibility to, 9 [RCV005017422] |
Chr1:207470045 [GRCh38]
Chr1:207643390 [GRCh37]
Chr1:1q32.2 |
likely pathogenic |
| NM_001006658.3(CR2):c.734+8T>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005060715] |
Chr1:207468907 [GRCh38]
Chr1:207642252 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2479G>T (p.Gly827Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005087291] |
Chr1:207474979 [GRCh38]
Chr1:207648324 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.634+17A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005085051] |
Chr1:207468732 [GRCh38]
Chr1:207642077 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1785T>C (p.Leu595=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005157431] |
Chr1:207472986 [GRCh38]
Chr1:207646331 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2229C>T (p.Ser743=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005152529] |
Chr1:207473874 [GRCh38]
Chr1:207647219 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.818-12C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005132866] |
Chr1:207469683 [GRCh38]
Chr1:207643028 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2808G>A (p.Leu936=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005069059] |
Chr1:207476325 [GRCh38]
Chr1:207649670 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3088+13G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005078469] |
Chr1:207478083 [GRCh38]
Chr1:207651428 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.987_990del (p.Ser329fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV005158950] |
Chr1:207469862..207469865 [GRCh38]
Chr1:207643207..207643210 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.909C>A (p.Tyr303Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005133555] |
Chr1:207469786 [GRCh38]
Chr1:207643131 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1647A>C (p.Gly549=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005180085] |
Chr1:207472848 [GRCh38]
Chr1:207646193 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3240A>G (p.Arg1080=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005159306] |
Chr1:207485515 [GRCh38]
Chr1:207658860 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.52del (p.Val18fs) |
deletion |
Immunodeficiency, common variable, 7 [RCV005143471] |
Chr1:207454466 [GRCh38]
Chr1:207627811 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.2940C>T (p.Ile980=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005168096] |
Chr1:207477922 [GRCh38]
Chr1:207651267 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.708A>G (p.Val236=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005143649] |
Chr1:207468873 [GRCh38]
Chr1:207642218 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.59-12T>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005165546] |
Chr1:207466514 [GRCh38]
Chr1:207639859 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1194A>C (p.Thr398=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005186243] |
Chr1:207470071 [GRCh38]
Chr1:207643416 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1665A>G (p.Thr555=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005078748] |
Chr1:207472866 [GRCh38]
Chr1:207646211 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.630T>A (p.Cys210Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005123490] |
Chr1:207468711 [GRCh38]
Chr1:207642056 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.1791C>T (p.Leu597=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005189641] |
Chr1:207472992 [GRCh38]
Chr1:207646337 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2903-17G>C |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005136848] |
Chr1:207477868 [GRCh38]
Chr1:207651213 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1403-10C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005158295] |
Chr1:207470987 [GRCh38]
Chr1:207644332 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.3089-13G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005161245] |
Chr1:207479244 [GRCh38]
Chr1:207652589 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2902+10C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005123887] |
Chr1:207476429 [GRCh38]
Chr1:207649774 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2700A>G (p.Pro900=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005083689] |
Chr1:207475200 [GRCh38]
Chr1:207648545 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.739C>T (p.Arg247Ter) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005077478] |
Chr1:207469154 [GRCh38]
Chr1:207642499 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.309A>G (p.Arg103=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005118518] |
Chr1:207466776 [GRCh38]
Chr1:207640121 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1978+18G>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005190507] |
Chr1:207473197 [GRCh38]
Chr1:207646542 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1571-8C>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005191701] |
Chr1:207472764 [GRCh38]
Chr1:207646109 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2608dup (p.Ile870fs) |
duplication |
Immunodeficiency, common variable, 7 [RCV005141464] |
Chr1:207475107..207475108 [GRCh38]
Chr1:207648452..207648453 [GRCh37]
Chr1:1q32.2 |
pathogenic |
| NM_001006658.3(CR2):c.321C>T (p.Pro107=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005108814] |
Chr1:207466788 [GRCh38]
Chr1:207640133 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1704C>T (p.Leu568=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005152684] |
Chr1:207472905 [GRCh38]
Chr1:207646250 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.446-14A>G |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005073099] |
Chr1:207468513 [GRCh38]
Chr1:207641858 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2268G>A (p.Gln756=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005182581] |
Chr1:207474268 [GRCh38]
Chr1:207647613 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2073C>T (p.Asp691=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005177343] |
Chr1:207473639 [GRCh38]
Chr1:207646984 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2550A>G (p.Pro850=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005177529] |
Chr1:207475050 [GRCh38]
Chr1:207648395 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.1493+16C>T |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005126289] |
Chr1:207471103 [GRCh38]
Chr1:207644448 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.2994G>A (p.Leu998=) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005071683] |
Chr1:207477976 [GRCh38]
Chr1:207651321 [GRCh37]
Chr1:1q32.2 |
likely benign |
| NM_001006658.3(CR2):c.622C>A (p.Pro208Thr) |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005153299] |
Chr1:207468703 [GRCh38]
Chr1:207642048 [GRCh37]
Chr1:1q32.2 |
uncertain significance |
| NM_001006658.3(CR2):c.2716+20T>A |
single nucleotide variant |
Immunodeficiency, common variable, 7 [RCV005199068] |
Chr1:207475236 [GRCh38]
Chr1:207648581 [GRCh37]
Chr1:1q32.2 |
likely benign |
