NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) |
single nucleotide variant |
Severe combined immunodeficiency disease [RCV000030598]|ZAP70-Related Severe Combined Immunodeficiency [RCV001852608] |
Chr2:97735322 [GRCh38] Chr2:98351785 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000032160] |
Chr2:97737576 [GRCh38] Chr2:98354039 [GRCh37] Chr2:2q11.2 |
pathogenic|not provided |
NM_001079.4(ZAP70):c.1714A>T (p.Met572Leu) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000032161] |
Chr2:97738085 [GRCh38] Chr2:98354548 [GRCh37] Chr2:2q11.2 |
pathogenic|not provided |
NM_001079.4(ZAP70):c.239C>A (p.Pro80Gln) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000032162]|ZAP70-Related Severe Combined Immunodeficiency [RCV001852638] |
Chr2:97724275 [GRCh38] Chr2:98340738 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance|not provided |
NM_001079.4(ZAP70):c.1554C>A (p.Ser518Arg) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000033208] |
Chr2:97737828 [GRCh38] Chr2:98354291 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1394G>A (p.Arg465His) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000033214]|ZAP70-Related Severe Combined Immunodeficiency [RCV001305022] |
Chr2:97737577 [GRCh38] Chr2:98354040 [GRCh37] Chr2:2q11.2 |
pathogenic|uncertain significance |
NM_001079.4(ZAP70):c.838-80G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000033937] |
Chr2:97733464 [GRCh38] Chr2:98349927 [GRCh37] Chr2:2q11.2 |
pathogenic|not provided |
NM_001079.4(ZAP70):c.1624-11G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000014158]|ZAP70-Related Severe Combined Immunodeficiency [RCV001851845]|ZAP70-related condition [RCV003390681]|not provided [RCV000726208] |
Chr2:97737984 [GRCh38] Chr2:98354447 [GRCh37] Chr2:2q11.2 |
pathogenic |
ZAP70, IVS, G-A, -9 |
single nucleotide variant |
Severe combined immunodeficiency, atypical [RCV000014160] |
Chr2:2q12 |
pathogenic |
NM_001079.4(ZAP70):c.1510_1522del (p.Lys504fs) |
deletion |
Combined immunodeficiency due to ZAP70 deficiency [RCV000014164] |
Chr2:97737783..97737795 [GRCh38] Chr2:98354246..98354258 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.3G>T (p.Met1Ile) |
single nucleotide variant |
not provided [RCV000722857] |
Chr2:97724039 [GRCh38] Chr2:98340502 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.786C>T (p.Ala262=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000546021] |
Chr2:97733208 [GRCh38] Chr2:98349671 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1082+8C>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000768141]|Combined immunodeficiency due to ZAP70 deficiency [RCV001262573]|ZAP70-Related Severe Combined Immunodeficiency [RCV000542141] |
Chr2:97734720 [GRCh38] Chr2:98351183 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
GRCh38/hg38 2q11.2(chr2:97634165-97841153)x3 |
copy number gain |
See cases [RCV000052667] |
Chr2:97634165..97841153 [GRCh38] Chr2:98250628..98457616 [GRCh37] Chr2:97617060..97824048 [NCBI36] Chr2:2q11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 |
copy number gain |
See cases [RCV000052946] |
Chr2:94817406..103252396 [GRCh38] Chr2:95618109..103868854 [GRCh37] Chr2:94846878..103235286 [NCBI36] Chr2:2q11.1-12.1 |
pathogenic |
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 |
copy number gain |
See cases [RCV000052947] |
Chr2:97672522..110211318 [GRCh38] Chr2:98288985..110968895 [GRCh37] Chr2:97655417..110326184 [NCBI36] Chr2:2q11.2-13 |
pathogenic |
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 |
copy number gain |
See cases [RCV000052945] |
Chr2:91443218..102334856 [GRCh38] Chr2:91617683..102951316 [GRCh37] Chr2:90981410..102317748 [NCBI36] Chr2:2p11.2-q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.563+13C>G |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000294932]|ZAP70-Related Severe Combined Immunodeficiency [RCV001510755]|not specified [RCV000126353] |
Chr2:97725265 [GRCh38] Chr2:98341728 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1482+11G>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000360286]|ZAP70-Related Severe Combined Immunodeficiency [RCV001514777]|not specified [RCV000126354] |
Chr2:97737676 [GRCh38] Chr2:98354139 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1677G>A (p.Glu559=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000356778]|ZAP70-Related Severe Combined Immunodeficiency [RCV001514778]|not provided [RCV001824626]|not specified [RCV000126355] |
Chr2:97738048 [GRCh38] Chr2:98354511 [GRCh37] Chr2:2q11.2 |
benign|not provided |
GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3 |
copy number gain |
See cases [RCV000138012] |
Chr2:95337458..99072953 [GRCh38] Chr2:96003206..99689416 [GRCh37] Chr2:95366933..99055848 [NCBI36] Chr2:2q11.1-11.2 |
uncertain significance |
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 |
copy number gain |
See cases [RCV000141075] |
Chr2:94678532..110602409 [GRCh38] Chr2:95344257..111359986 [GRCh37] Chr2:94707984..111076455 [NCBI36] Chr2:2q11.1-13 |
pathogenic |
GRCh38/hg38 2q11.2(chr2:97422165-98203456)x3 |
copy number gain |
See cases [RCV000143678] |
Chr2:97422165..98203456 [GRCh38] Chr2:98017406..98819919 [GRCh37] Chr2:97383545..98186351 [NCBI36] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1737-3C>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000261970]|ZAP70-Related Severe Combined Immunodeficiency [RCV000527470]|not specified [RCV001553701] |
Chr2:97739372 [GRCh38] Chr2:98355835 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_001079.4(ZAP70):c.-81T>G |
single nucleotide variant |
Severe combined immunodeficiency disease [RCV001731615] |
Chr2:97713935 [GRCh38] Chr2:98330398 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1079G>C (p.Arg360Pro) |
single nucleotide variant |
Autoimmune disease, multisystem, infantile-onset, 2 [RCV000233631]|Combined immunodeficiency [RCV000208547]|Combined immunodeficiency due to ZAP70 deficiency [RCV001559121] |
Chr2:97734709 [GRCh38] Chr2:98351172 [GRCh37] Chr2:2q11.2 |
pathogenic|not provided |
NM_001079.4(ZAP70):c.574C>T (p.Arg192Trp) |
single nucleotide variant |
Autoimmune disease, multisystem, infantile-onset, 2 [RCV000227350]|Combined immunodeficiency [RCV000208562]|Combined immunodeficiency due to ZAP70 deficiency [RCV001559120]|ZAP70-Related Severe Combined Immunodeficiency [RCV001853323] |
Chr2:97732893 [GRCh38] Chr2:98349356 [GRCh37] Chr2:2q11.2 |
pathogenic|likely pathogenic|uncertain significance|not provided |
NM_001079.4(ZAP70):c.-177C>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000267490] |
Chr2:97713598 [GRCh38] Chr2:98330061 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.105G>A (p.Leu35=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000374109]|ZAP70-Related Severe Combined Immunodeficiency [RCV000527243]|not specified [RCV000603288] |
Chr2:97724141 [GRCh38] Chr2:98340604 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_001079.4(ZAP70):c.-91T>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000354299] |
Chr2:97713925 [GRCh38] Chr2:98330388 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_001079.4(ZAP70):c.-186C>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000357744]|not provided [RCV001764308] |
Chr2:97713589 [GRCh38] Chr2:98330052 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.-59T>C |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000319244] |
Chr2:97713957 [GRCh38] Chr2:98330420 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_001079.4(ZAP70):c.1617C>T (p.Pro539=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000404835]|ZAP70-Related Severe Combined Immunodeficiency [RCV001412237] |
Chr2:97737891 [GRCh38] Chr2:98354354 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.*328C>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000382112] |
Chr2:97739826 [GRCh38] Chr2:98356289 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000405371]|ZAP70-Related Severe Combined Immunodeficiency [RCV000548850]|not provided [RCV000596304]|not specified [RCV003226285] |
Chr2:97734655 [GRCh38] Chr2:98351118 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1083-3C>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000305518] |
Chr2:97735247 [GRCh38] Chr2:98351710 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.837+6T>C |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000340630]|ZAP70-Related Severe Combined Immunodeficiency [RCV001217927] |
Chr2:97733349 [GRCh38] Chr2:98349812 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.672C>T (p.Pro224=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000407147]|ZAP70-Related Severe Combined Immunodeficiency [RCV000531118]|not provided [RCV001711955] |
Chr2:97732991 [GRCh38] Chr2:98349454 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_001079.4(ZAP70):c.810C>T (p.Leu270=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000291544]|ZAP70-Related Severe Combined Immunodeficiency [RCV000873145] |
Chr2:97733316 [GRCh38] Chr2:98349779 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NM_001079.4(ZAP70):c.-133C>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000322861] |
Chr2:97713642 [GRCh38] Chr2:98330105 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.156C>T (p.His52=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000293628]|ZAP70-Related Severe Combined Immunodeficiency [RCV000876759] |
Chr2:97724192 [GRCh38] Chr2:98340655 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_001079.4(ZAP70):c.606C>T (p.Leu202=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000345216]|ZAP70-Related Severe Combined Immunodeficiency [RCV002057724] |
Chr2:97732925 [GRCh38] Chr2:98349388 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.*29G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000366961]|not provided [RCV001613101]|not specified [RCV003401360] |
Chr2:97739527 [GRCh38] Chr2:98355990 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1645A>G (p.Met549Val) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000297141]|Combined immunodeficiency due to ZAP70 deficiency [RCV002504136]|ZAP70-Related Severe Combined Immunodeficiency [RCV001055985]|not provided [RCV001508451] |
Chr2:97738016 [GRCh38] Chr2:98354479 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.447G>A (p.Val149=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000330002]|ZAP70-Related Severe Combined Immunodeficiency [RCV000542333] |
Chr2:97725136 [GRCh38] Chr2:98341599 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_001079.4(ZAP70):c.1832C>T (p.Thr611Ile) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000330929]|ZAP70-Related Severe Combined Immunodeficiency [RCV000796429] |
Chr2:97739470 [GRCh38] Chr2:98355933 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.*289G>C |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000331946]|not provided [RCV001618594] |
Chr2:97739787 [GRCh38] Chr2:98356250 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.*161G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000276899] |
Chr2:97739659 [GRCh38] Chr2:98356122 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001139499]|ZAP70-Related Severe Combined Immunodeficiency [RCV000553616]|not provided [RCV001702677] |
Chr2:97738027 [GRCh38] Chr2:98354490 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.590C>T (p.Thr197Ile) |
single nucleotide variant |
not provided [RCV000488997] |
Chr2:97732909 [GRCh38] Chr2:98349372 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.516G>A (p.Glu172=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV000389187] |
Chr2:97725205 [GRCh38] Chr2:98341668 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.531T>C (p.Leu177=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001141991]|ZAP70-Related Severe Combined Immunodeficiency [RCV000552712] |
Chr2:97725220 [GRCh38] Chr2:98341683 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1643T>G (p.Val548Gly) |
single nucleotide variant |
not provided [RCV000722512] |
Chr2:97738014 [GRCh38] Chr2:98354477 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) |
copy number gain |
See cases [RCV000449270] |
Chr2:95529039..108518266 [GRCh37] Chr2:2q11.1-12.3 |
pathogenic |
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 |
copy number gain |
See cases [RCV000446842] |
Chr2:95327499..111370025 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
NM_001079.4(ZAP70):c.1290-16T>C |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002521763]|not specified [RCV000438773] |
Chr2:97737457 [GRCh38] Chr2:98353920 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001139497]|ZAP70-Related Severe Combined Immunodeficiency [RCV000647921]|not provided [RCV001702779]|not specified [RCV000440355] |
Chr2:97737650 [GRCh38] Chr2:98354113 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394) |
copy number gain |
See cases [RCV000447723] |
Chr2:95691600..100587394 [GRCh37] Chr2:2q11.1-11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1679G>A (p.Cys560Tyr) |
single nucleotide variant |
not provided [RCV000482430] |
Chr2:97738050 [GRCh38] Chr2:98354513 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_001079.4(ZAP70):c.1280del (p.Val427fs) |
deletion |
not provided [RCV000482821] |
Chr2:97735447 [GRCh38] Chr2:98351910 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1409T>G (p.Val470Gly) |
single nucleotide variant |
not specified [RCV000454753] |
Chr2:97737592 [GRCh38] Chr2:98354055 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His) |
single nucleotide variant |
not provided [RCV000484238]|not specified [RCV003317234] |
Chr2:97739386 [GRCh38] Chr2:98355849 [GRCh37] Chr2:2q11.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_001079.4(ZAP70):c.192G>C (p.Gln64His) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001061263]|not provided [RCV000498370] |
Chr2:97724228 [GRCh38] Chr2:98340691 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127) |
copy number gain |
See cases [RCV000511158] |
Chr2:95518497..107186127 [GRCh37] Chr2:2q11.1-12.2 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_001079.4(ZAP70):c.1415G>A (p.Arg472Gln) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647919] |
Chr2:97737598 [GRCh38] Chr2:98354061 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.464C>T (p.Thr155Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647922] |
Chr2:97725153 [GRCh38] Chr2:98341616 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1722C>T (p.Asp574=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647923] |
Chr2:97738093 [GRCh38] Chr2:98354556 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1638G>A (p.Pro546=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647924]|not provided [RCV001702824] |
Chr2:97738009 [GRCh38] Chr2:98354472 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_001079.4(ZAP70):c.1289+10G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001329565]|ZAP70-Related Severe Combined Immunodeficiency [RCV000647925]|not provided [RCV002261156] |
Chr2:97735466 [GRCh38] Chr2:98351929 [GRCh37] Chr2:2q11.2 |
benign|uncertain significance |
NM_001079.4(ZAP70):c.1623+7G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647926] |
Chr2:97737904 [GRCh38] Chr2:98354367 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.594C>T (p.Tyr198=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647927] |
Chr2:97732913 [GRCh38] Chr2:98349376 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.117C>A (p.Cys39Ter) |
single nucleotide variant |
not provided [RCV000578778] |
Chr2:97724153 [GRCh38] Chr2:98340616 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.179C>T (p.Pro60Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003282415] |
Chr2:97724215 [GRCh38] Chr2:98340678 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.-100-14G>A |
single nucleotide variant |
not specified [RCV000614981] |
Chr2:97713902 [GRCh38] Chr2:98330365 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.7G>C (p.Asp3His) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647918] |
Chr2:97724043 [GRCh38] Chr2:98340506 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1289+4A>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000647920] |
Chr2:97735460 [GRCh38] Chr2:98351923 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.620C>T (p.Thr207Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002534300]|ZAP70-Related Severe Combined Immunodeficiency [RCV000706557]|not provided [RCV000658874] |
Chr2:97732939 [GRCh38] Chr2:98349402 [GRCh37] Chr2:2q11.2 |
uncertain significance |
Single allele |
deletion |
not provided [RCV000714264] |
Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3 |
likely pathogenic |
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 |
copy number gain |
not provided [RCV000682168] |
Chr2:96353030..114045463 [GRCh37] Chr2:2q11.1-13 |
pathogenic |
NM_001079.4(ZAP70):c.1247dup (p.Met416fs) |
duplication |
ZAP70-Related Severe Combined Immunodeficiency [RCV000687243] |
Chr2:97735413..97735414 [GRCh38] Chr2:98351876..98351877 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1490C>T (p.Ser497Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002534373]|ZAP70-Related Severe Combined Immunodeficiency [RCV000699346] |
Chr2:97737764 [GRCh38] Chr2:98354227 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.914C>T (p.Pro305Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000693510] |
Chr2:97734544 [GRCh38] Chr2:98351007 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.827C>T (p.Thr276Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000685456] |
Chr2:97733333 [GRCh38] Chr2:98349796 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1757T>C (p.Phe586Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000689774] |
Chr2:97739395 [GRCh38] Chr2:98355858 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1591G>A (p.Glu531Lys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000687834] |
Chr2:97737865 [GRCh38] Chr2:98354328 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.981C>G (p.Asp327Glu) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001137246]|ZAP70-Related Severe Combined Immunodeficiency [RCV000707711]|not provided [RCV003141712] |
Chr2:97734611 [GRCh38] Chr2:98351074 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1429A>G (p.Ile477Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000694595] |
Chr2:97737612 [GRCh38] Chr2:98354075 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
GRCh37/hg19 2q11.2(chr2:98261636-98407168)x3 |
copy number gain |
not provided [RCV000740532] |
Chr2:98261636..98407168 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1012C>T (p.Leu338Phe) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000915750] |
Chr2:97734642 [GRCh38] Chr2:98351105 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1764C>T (p.Thr588=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001444893] |
Chr2:97739402 [GRCh38] Chr2:98355865 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.-21-115A>C |
single nucleotide variant |
not provided [RCV001612194]|not specified [RCV003394167] |
Chr2:97723901 [GRCh38] Chr2:98340364 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1698C>T (p.Pro566=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001426576] |
Chr2:97738069 [GRCh38] Chr2:98354532 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.468G>A (p.Thr156=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001491004] |
Chr2:97725157 [GRCh38] Chr2:98341620 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1389G>A (p.Ala463=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001059020] |
Chr2:97737572 [GRCh38] Chr2:98354035 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.216C>T (p.Ala72=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000943453] |
Chr2:97724252 [GRCh38] Chr2:98340715 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1623+8C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000975358] |
Chr2:97737905 [GRCh38] Chr2:98354368 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.681C>T (p.Thr227=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000967623] |
Chr2:97733000 [GRCh38] Chr2:98349463 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1518C>T (p.Tyr506=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001417528] |
Chr2:97737792 [GRCh38] Chr2:98354255 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1560C>T (p.Ser520=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000876951] |
Chr2:97737834 [GRCh38] Chr2:98354297 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.939C>G (p.Ser313Arg) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001137245]|ZAP70-Related Severe Combined Immunodeficiency [RCV000876082] |
Chr2:97734569 [GRCh38] Chr2:98351032 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1428G>A (p.Lys476=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002549597] |
Chr2:97737611 [GRCh38] Chr2:98354074 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.621G>A (p.Thr207=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002542138] |
Chr2:97732940 [GRCh38] Chr2:98349403 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1443C>T (p.Gly481=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000883669] |
Chr2:97737626 [GRCh38] Chr2:98354089 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.3(ZAP70):c.880C>G (p.Pro294Ala) |
single nucleotide variant |
Esophageal atresia [RCV000984776] |
Chr2:97733586 [GRCh38] Chr2:98350049 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_001079.4(ZAP70):c.639C>T (p.Ile213=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000983792] |
Chr2:97732958 [GRCh38] Chr2:98349421 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.565C>T (p.Leu189=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001037462] |
Chr2:97732884 [GRCh38] Chr2:98349347 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1290-5C>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001044477] |
Chr2:97737468 [GRCh38] Chr2:98353931 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1094A>G (p.Asp365Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001050693] |
Chr2:97735261 [GRCh38] Chr2:98351724 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.853G>A (p.Asp285Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001050738] |
Chr2:97733559 [GRCh38] Chr2:98350022 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.403-3T>C |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001141987]|ZAP70-Related Severe Combined Immunodeficiency [RCV001047967] |
Chr2:97725089 [GRCh38] Chr2:98341552 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.890-16C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001519468]|not provided [RCV001672956]|not specified [RCV000781926] |
Chr2:97734504 [GRCh38] Chr2:98350967 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1078C>T (p.Arg360Cys) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001137248]|ZAP70-Related Severe Combined Immunodeficiency [RCV001071941]|ZAP70-related condition [RCV003413582]|not provided [RCV000788154] |
Chr2:97734708 [GRCh38] Chr2:98351171 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.573G>C (p.Pro191=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001394954] |
Chr2:97732892 [GRCh38] Chr2:98349355 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.828G>A (p.Thr276=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001143804]|ZAP70-Related Severe Combined Immunodeficiency [RCV000876626] |
Chr2:97733334 [GRCh38] Chr2:98349797 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.990C>T (p.Leu330=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001468061] |
Chr2:97734620 [GRCh38] Chr2:98351083 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.702+9C>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001460051] |
Chr2:97733030 [GRCh38] Chr2:98349493 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1605C>T (p.Tyr535=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000945360]|not provided [RCV001619863]|not specified [RCV002509583] |
Chr2:97737879 [GRCh38] Chr2:98354342 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_001079.4(ZAP70):c.936G>C (p.Thr312=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000978913] |
Chr2:97734566 [GRCh38] Chr2:98351029 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.756G>A (p.Glu252=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000899455]|not specified [RCV000780798] |
Chr2:97733178 [GRCh38] Chr2:98349641 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.360C>T (p.Asp120=) |
single nucleotide variant |
not specified [RCV000780799] |
Chr2:97724396 [GRCh38] Chr2:98340859 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1016T>A (p.Ile339Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003271310] |
Chr2:97734646 [GRCh38] Chr2:98351109 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1018G>A (p.Ala340Thr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000793549] |
Chr2:97734648 [GRCh38] Chr2:98351111 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1464C>T (p.Ala488=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001490617] |
Chr2:97737647 [GRCh38] Chr2:98354110 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1139C>T (p.Thr380Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000809942] |
Chr2:97735306 [GRCh38] Chr2:98351769 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.302C>A (p.Pro101Gln) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000807425] |
Chr2:97724338 [GRCh38] Chr2:98340801 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1468G>A (p.Asp490Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000820389] |
Chr2:97737651 [GRCh38] Chr2:98354114 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.791-3C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000815434] |
Chr2:97733294 [GRCh38] Chr2:98349757 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1529_1532dup (p.Ile511fs) |
duplication |
ZAP70-Related Severe Combined Immunodeficiency [RCV000817053] |
Chr2:97737800..97737801 [GRCh38] Chr2:98354263..98354264 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000817054] |
Chr2:97724145 [GRCh38] Chr2:98340608 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1404G>A (p.Leu468=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001414028] |
Chr2:97737587 [GRCh38] Chr2:98354050 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.973C>T (p.Leu325Phe) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000792952] |
Chr2:97734603 [GRCh38] Chr2:98351066 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.935C>T (p.Thr312Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000792965] |
Chr2:97734565 [GRCh38] Chr2:98351028 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1753G>A (p.Asp585Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000795675] |
Chr2:97739391 [GRCh38] Chr2:98355854 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.80C>A (p.Ala27Glu) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001139372]|ZAP70-Related Severe Combined Immunodeficiency [RCV000800529] |
Chr2:97724116 [GRCh38] Chr2:98340579 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1765G>A (p.Val589Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000801195] |
Chr2:97739403 [GRCh38] Chr2:98355866 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1556G>A (p.Arg519His) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000805345]|not provided [RCV001508450] |
Chr2:97737830 [GRCh38] Chr2:98354293 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1190A>G (p.Tyr397Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002537020]|ZAP70-Related Severe Combined Immunodeficiency [RCV000796197] |
Chr2:97735357 [GRCh38] Chr2:98351820 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.693G>A (p.Thr231=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000872404] |
Chr2:97733012 [GRCh38] Chr2:98349475 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1275C>T (p.Phe425=) |
single nucleotide variant |
not provided [RCV000898652] |
Chr2:97735442 [GRCh38] Chr2:98351905 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1101C>T (p.Ala367=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001498410] |
Chr2:97735268 [GRCh38] Chr2:98351731 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.774T>C (p.Ser258=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000872608] |
Chr2:97733196 [GRCh38] Chr2:98349659 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.988C>T (p.Leu330Phe) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001137247]|Combined immunodeficiency due to ZAP70 deficiency [RCV002495152]|ZAP70-Related Severe Combined Immunodeficiency [RCV000815944] |
Chr2:97734618 [GRCh38] Chr2:98351081 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1115A>C (p.Lys372Thr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000820233] |
Chr2:97735282 [GRCh38] Chr2:98351745 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1140G>A (p.Thr380=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001467148] |
Chr2:97735307 [GRCh38] Chr2:98351770 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.866C>G (p.Ser289Ter) |
single nucleotide variant |
not provided [RCV000788288] |
Chr2:97733572 [GRCh38] Chr2:98350035 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_001079.4(ZAP70):c.940G>A (p.Val314Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000822297]|not provided [RCV000788289] |
Chr2:97734570 [GRCh38] Chr2:98351033 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.553G>A (p.Gly185Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001062227] |
Chr2:97725242 [GRCh38] Chr2:98341705 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.133G>C (p.Gly45Arg) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001204833] |
Chr2:97724169 [GRCh38] Chr2:98340632 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.16G>A (p.Ala6Thr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001208333] |
Chr2:97724052 [GRCh38] Chr2:98340515 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.753G>A (p.Lys251=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001224239] |
Chr2:97733175 [GRCh38] Chr2:98349638 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.261C>G (p.Tyr87Ter) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001226679] |
Chr2:97724297 [GRCh38] Chr2:98340760 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1831A>T (p.Thr611Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001221277] |
Chr2:97739469 [GRCh38] Chr2:98355932 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1432A>G (p.Ser478Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001223574] |
Chr2:97737615 [GRCh38] Chr2:98354078 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1797C>G (p.Ser599Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002561142]|ZAP70-Related Severe Combined Immunodeficiency [RCV001204098] |
Chr2:97739435 [GRCh38] Chr2:98355898 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.*228G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001140264] |
Chr2:97739726 [GRCh38] Chr2:98356189 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.790+12_790+15dup |
duplication |
ZAP70-Related Severe Combined Immunodeficiency [RCV001438063]|not specified [RCV001192891] |
Chr2:97733221..97733222 [GRCh38] Chr2:98349684..98349685 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.504G>C (p.Leu168=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003105127] |
Chr2:97725193 [GRCh38] Chr2:98341656 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.889+288C>T |
single nucleotide variant |
not provided [RCV001598149] |
Chr2:97733883 [GRCh38] Chr2:98350346 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1289+67T>C |
single nucleotide variant |
not provided [RCV001716580]|not specified [RCV003401643] |
Chr2:97735523 [GRCh38] Chr2:98351986 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1353C>T (p.Tyr451=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000877400] |
Chr2:97737536 [GRCh38] Chr2:98353999 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.889+7G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV000965611] |
Chr2:97733602 [GRCh38] Chr2:98350065 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1368C>T (p.Asn456=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001457868] |
Chr2:97737551 [GRCh38] Chr2:98354014 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1780C>G (p.Arg594Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001214270] |
Chr2:97739418 [GRCh38] Chr2:98355881 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.467C>G (p.Thr156Arg) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001141988] |
Chr2:97725156 [GRCh38] Chr2:98341619 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.512A>G (p.Glu171Gly) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001141990]|Combined immunodeficiency due to ZAP70 deficiency [RCV002497555]|ZAP70-Related Severe Combined Immunodeficiency [RCV001514782] |
Chr2:97725201 [GRCh38] Chr2:98341664 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_001079.4(ZAP70):c.1274_1275delinsGT (p.Phe425Cys) |
indel |
ZAP70-Related Severe Combined Immunodeficiency [RCV001227787] |
Chr2:97735441..97735442 [GRCh38] Chr2:98351904..98351905 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1737-7C>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001139500] |
Chr2:97739368 [GRCh38] Chr2:98355831 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.474C>T (p.His158=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001141989]|ZAP70-Related Severe Combined Immunodeficiency [RCV000889539]|not specified [RCV001269100] |
Chr2:97725163 [GRCh38] Chr2:98341626 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3 |
copy number gain |
not provided [RCV002473932] |
Chr2:95341388..100340514 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
NM_001079.4(ZAP70):c.1737-224C>G |
single nucleotide variant |
not provided [RCV001659522] |
Chr2:97739151 [GRCh38] Chr2:98355614 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1290-89C>T |
single nucleotide variant |
not provided [RCV001620216]|not specified [RCV003394170] |
Chr2:97737384 [GRCh38] Chr2:98353847 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.-101+81A>G |
single nucleotide variant |
not provided [RCV001613759] |
Chr2:97713755 [GRCh38] Chr2:98330218 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.889+43A>C |
single nucleotide variant |
not provided [RCV001653422] |
Chr2:97733638 [GRCh38] Chr2:98350101 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.729G>A (p.Ala243=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001143802]|ZAP70-Related Severe Combined Immunodeficiency [RCV002070732] |
Chr2:97733151 [GRCh38] Chr2:98349614 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.790+6G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001143803]|ZAP70-Related Severe Combined Immunodeficiency [RCV001858944] |
Chr2:97733218 [GRCh38] Chr2:98349681 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.*11C>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001140262] |
Chr2:97739509 [GRCh38] Chr2:98355972 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.*48C>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001140263] |
Chr2:97739546 [GRCh38] Chr2:98356009 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1487G>A (p.Arg496His) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001067494] |
Chr2:97737761 [GRCh38] Chr2:98354224 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.199G>T (p.Gly67Cys) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001139373] |
Chr2:97724235 [GRCh38] Chr2:98340698 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.791-1G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001067902] |
Chr2:97733296 [GRCh38] Chr2:98349759 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_001079.4(ZAP70):c.1737-162_1737-161del |
deletion |
not provided [RCV001616272] |
Chr2:97739213..97739214 [GRCh38] Chr2:98355676..98355677 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.402+294C>T |
single nucleotide variant |
not provided [RCV001680936] |
Chr2:97724732 [GRCh38] Chr2:98341195 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.939C>A (p.Ser313Arg) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001234455] |
Chr2:97734569 [GRCh38] Chr2:98351032 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.474C>G (p.His158Gln) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001208802]|not provided [RCV003480991] |
Chr2:97725163 [GRCh38] Chr2:98341626 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1720G>A (p.Asp574Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001232442] |
Chr2:97738091 [GRCh38] Chr2:98354554 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.3(ZAP70):c.-217G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001137134] |
Chr2:97713558 [GRCh38] Chr2:98330021 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.920C>T (p.Pro307Leu) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001137244]|ZAP70-Related Severe Combined Immunodeficiency [RCV001856754] |
Chr2:97734550 [GRCh38] Chr2:98351013 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1624-12C>T |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001139498]|ZAP70-Related Severe Combined Immunodeficiency [RCV002070658]|not provided [RCV001712857] |
Chr2:97737983 [GRCh38] Chr2:98354446 [GRCh37] Chr2:2q11.2 |
benign|likely benign|uncertain significance |
NC_000002.12:g.(?_97737453)_(97739518_?)del |
deletion |
ZAP70-Related Severe Combined Immunodeficiency [RCV001032285] |
Chr2:98353916..98355981 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.283C>T (p.Pro95Ser) |
single nucleotide variant |
Combined immunodeficiency [RCV001027642] |
Chr2:97724319 [GRCh38] Chr2:98340782 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.*274G>A |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001140265] |
Chr2:97739772 [GRCh38] Chr2:98356235 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1392C>A (p.Ala464=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001137249]|ZAP70-Related Severe Combined Immunodeficiency [RCV002070603] |
Chr2:97737575 [GRCh38] Chr2:98354038 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1623G>A (p.Lys541=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001214641] |
Chr2:97737897 [GRCh38] Chr2:98354360 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1435G>A (p.Asp479Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001215315] |
Chr2:97737618 [GRCh38] Chr2:98354081 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.203C>G (p.Thr68Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001041343] |
Chr2:97724239 [GRCh38] Chr2:98340702 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.711G>C (p.Glu237Asp) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001215848] |
Chr2:97733133 [GRCh38] Chr2:98349596 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.655G>A (p.Gly219Ser) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001143801] |
Chr2:97732974 [GRCh38] Chr2:98349437 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3 |
pathogenic |
NM_001079.4(ZAP70):c.440C>T (p.Pro147Leu) |
single nucleotide variant |
Autoimmune disease, multisystem, infantile-onset, 2 [RCV001329566] |
Chr2:97725129 [GRCh38] Chr2:98341592 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.185A>G (p.Glu62Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001316005] |
Chr2:97724221 [GRCh38] Chr2:98340684 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1274T>A (p.Phe425Tyr) |
single nucleotide variant |
not specified [RCV001328422] |
Chr2:97735441 [GRCh38] Chr2:98351904 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.692C>T (p.Thr231Met) |
single nucleotide variant |
Autoimmune disease, multisystem, infantile-onset, 2 [RCV001335607]|ZAP70-Related Severe Combined Immunodeficiency [RCV002547342]|not provided [RCV001760438] |
Chr2:97733011 [GRCh38] Chr2:98349474 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.304T>G (p.Cys102Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001374135] |
Chr2:97724340 [GRCh38] Chr2:98340803 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1019C>G (p.Ala340Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001321644] |
Chr2:97734649 [GRCh38] Chr2:98351112 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1801G>A (p.Ala601Thr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001343779] |
Chr2:97739439 [GRCh38] Chr2:98355902 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.437C>T (p.Ala146Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002547890]|ZAP70-Related Severe Combined Immunodeficiency [RCV001368505] |
Chr2:97725126 [GRCh38] Chr2:98341589 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.591A>G (p.Thr197=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001323245] |
Chr2:97732910 [GRCh38] Chr2:98349373 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.46T>C (p.Ser16Pro) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001363278] |
Chr2:97724082 [GRCh38] Chr2:98340545 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1198C>T (p.Arg400Trp) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001350353] |
Chr2:97735365 [GRCh38] Chr2:98351828 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1225G>T (p.Ala409Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001345316] |
Chr2:97735392 [GRCh38] Chr2:98351855 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1228C>G (p.Leu410Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001323492]|not provided [RCV003135974] |
Chr2:97735395 [GRCh38] Chr2:98351858 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1378C>T (p.Arg460Cys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001350041]|not provided [RCV002224076] |
Chr2:97737561 [GRCh38] Chr2:98354024 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.733G>A (p.Gly245Arg) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001362274] |
Chr2:97733155 [GRCh38] Chr2:98349618 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.563+4T>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001322704] |
Chr2:97725256 [GRCh38] Chr2:98341719 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1272G>C (p.Lys424Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001352274] |
Chr2:97735439 [GRCh38] Chr2:98351902 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1524C>T (p.Pro508=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001413211] |
Chr2:97737798 [GRCh38] Chr2:98354261 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1623+5G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001297007] |
Chr2:97737902 [GRCh38] Chr2:98354365 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.37G>C (p.Gly13Arg) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001318334] |
Chr2:97724073 [GRCh38] Chr2:98340536 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1775G>A (p.Arg592His) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001305781] |
Chr2:97739413 [GRCh38] Chr2:98355876 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1282G>A (p.Gly428Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001340707] |
Chr2:97735449 [GRCh38] Chr2:98351912 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1540C>T (p.Arg514Cys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001316224] |
Chr2:97737814 [GRCh38] Chr2:98354277 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1226C>T (p.Ala409Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001368720] |
Chr2:97735393 [GRCh38] Chr2:98351856 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1153C>T (p.Arg385Cys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001306030] |
Chr2:97735320 [GRCh38] Chr2:98351783 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.790+5C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001358857] |
Chr2:97733217 [GRCh38] Chr2:98349680 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.979G>A (p.Asp327Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001299066] |
Chr2:97734609 [GRCh38] Chr2:98351072 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.783C>T (p.Asn261=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001401926] |
Chr2:97733205 [GRCh38] Chr2:98349668 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.537T>C (p.Ser179=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001500142] |
Chr2:97725226 [GRCh38] Chr2:98341689 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.918G>A (p.Arg306=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001480240] |
Chr2:97734548 [GRCh38] Chr2:98351011 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.852C>A (p.Ile284=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001439223] |
Chr2:97733558 [GRCh38] Chr2:98350021 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1289+9C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001487111] |
Chr2:97735465 [GRCh38] Chr2:98351928 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.861C>A (p.Leu287=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001418618] |
Chr2:97733567 [GRCh38] Chr2:98350030 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.180C>T (p.Pro60=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001403546] |
Chr2:97724216 [GRCh38] Chr2:98340679 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1752C>G (p.Pro584=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001456054] |
Chr2:97739390 [GRCh38] Chr2:98355853 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1284C>G (p.Gly428=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001453087] |
Chr2:97735451 [GRCh38] Chr2:98351914 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1818G>A (p.Gly606=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001492068] |
Chr2:97739456 [GRCh38] Chr2:98355919 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.162G>A (p.Val54=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001438242] |
Chr2:97724198 [GRCh38] Chr2:98340661 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.475G>T (p.Glu159Ter) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001385032] |
Chr2:97725164 [GRCh38] Chr2:98341627 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1509C>T (p.Leu503=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001404835] |
Chr2:97737783 [GRCh38] Chr2:98354246 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.528A>G (p.Lys176=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001403444] |
Chr2:97725217 [GRCh38] Chr2:98341680 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.267C>T (p.Arg89=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001425661] |
Chr2:97724303 [GRCh38] Chr2:98340766 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1111C>T (p.Leu371=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001393171] |
Chr2:97735278 [GRCh38] Chr2:98351741 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.342C>T (p.Val114=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001444892]|not provided [RCV001824967] |
Chr2:97724378 [GRCh38] Chr2:98340841 [GRCh37] Chr2:2q11.2 |
likely benign|not provided |
NM_001079.4(ZAP70):c.423C>T (p.Ala141=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001432467] |
Chr2:97725112 [GRCh38] Chr2:98341575 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1737-9G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001473247] |
Chr2:97739366 [GRCh38] Chr2:98355829 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1737-10C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001480902] |
Chr2:97739365 [GRCh38] Chr2:98355828 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1371T>C (p.Phe457=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001503046] |
Chr2:97737554 [GRCh38] Chr2:98354017 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.703-9T>C |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001491188] |
Chr2:97733116 [GRCh38] Chr2:98349579 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.791-16C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001480123] |
Chr2:97733281 [GRCh38] Chr2:98349744 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.564-19C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001440115] |
Chr2:97732864 [GRCh38] Chr2:98349327 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.310C>A (p.Arg104=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001483392] |
Chr2:97724346 [GRCh38] Chr2:98340809 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1737-15C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001513498] |
Chr2:97739360 [GRCh38] Chr2:98355823 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1416G>C (p.Arg472=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001406734] |
Chr2:97737599 [GRCh38] Chr2:98354062 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1023C>T (p.Asp341=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001496639] |
Chr2:97734653 [GRCh38] Chr2:98351116 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.876C>T (p.Tyr292=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001423377] |
Chr2:97733582 [GRCh38] Chr2:98350045 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.889+8G>C |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001398625] |
Chr2:97733603 [GRCh38] Chr2:98350066 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1083-7C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001499660] |
Chr2:97735243 [GRCh38] Chr2:98351706 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1624-13C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001484219] |
Chr2:97737982 [GRCh38] Chr2:98354445 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1065C>T (p.Gly355=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV001731179] |
Chr2:97734695 [GRCh38] Chr2:98351158 [GRCh37] Chr2:2q11.2 |
pathogenic|not provided |
NM_001079.4(ZAP70):c.890-1G>C |
single nucleotide variant |
not provided [RCV001784041] |
Chr2:97734519 [GRCh38] Chr2:98350982 [GRCh37] Chr2:2q11.2 |
likely pathogenic |
NM_001079.4(ZAP70):c.1825G>A (p.Gly609Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002540375]|not provided [RCV001765614] |
Chr2:97739463 [GRCh38] Chr2:98355926 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.402+219A>G |
single nucleotide variant |
not provided [RCV001799892] |
Chr2:97724657 [GRCh38] Chr2:98341120 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.-100-100_-100-93del |
deletion |
not provided [RCV001762819] |
Chr2:97713816..97713823 [GRCh38] Chr2:98330279..98330286 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.169C>T (p.His57Tyr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001988707] |
Chr2:97724205 [GRCh38] Chr2:98340668 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.422C>G (p.Ala141Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001896564] |
Chr2:97725111 [GRCh38] Chr2:98341574 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1780C>T (p.Arg594Ter) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001915221] |
Chr2:97739418 [GRCh38] Chr2:98355881 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.25C>G (p.Pro9Ala) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001893892] |
Chr2:97724061 [GRCh38] Chr2:98340524 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.523C>T (p.Arg175Cys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001896116] |
Chr2:97725212 [GRCh38] Chr2:98341675 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1817G>A (p.Gly606Glu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001893343] |
Chr2:97739455 [GRCh38] Chr2:98355918 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.317C>G (p.Ser106Trp) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002005589] |
Chr2:97724353 [GRCh38] Chr2:98340816 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1837A>T (p.Lys613Ter) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002021432] |
Chr2:97739475 [GRCh38] Chr2:98355938 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.328C>T (p.Pro110Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001893598] |
Chr2:97724364 [GRCh38] Chr2:98340827 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.608T>A (p.Ile203Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002006145] |
Chr2:97732927 [GRCh38] Chr2:98349390 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.847C>T (p.Arg283Ter) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001970101] |
Chr2:97733553 [GRCh38] Chr2:98350016 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1518C>A (p.Tyr506Ter) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001890938] |
Chr2:97737792 [GRCh38] Chr2:98354255 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1452A>G (p.Lys484=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001987199] |
Chr2:97737635 [GRCh38] Chr2:98354098 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.227C>T (p.Ala76Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002004106] |
Chr2:97724263 [GRCh38] Chr2:98340726 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1819C>T (p.Pro607Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001911294] |
Chr2:97739457 [GRCh38] Chr2:98355920 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.366G>C (p.Met122Ile) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001892855] |
Chr2:97724402 [GRCh38] Chr2:98340865 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.710A>G (p.Glu237Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001913334] |
Chr2:97733132 [GRCh38] Chr2:98349595 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.703-1G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001927415] |
Chr2:97733124 [GRCh38] Chr2:98349587 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.1673T>C (p.Met558Thr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001966915] |
Chr2:97738044 [GRCh38] Chr2:98354507 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1751C>T (p.Pro584Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001976548] |
Chr2:97739389 [GRCh38] Chr2:98355852 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.520G>A (p.Glu174Lys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002000778] |
Chr2:97725209 [GRCh38] Chr2:98341672 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.402+20C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002016195] |
Chr2:97724458 [GRCh38] Chr2:98340921 [GRCh37] Chr2:2q11.2 |
likely benign|uncertain significance |
NM_001079.4(ZAP70):c.1240A>G (p.Met414Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002010076] |
Chr2:97735407 [GRCh38] Chr2:98351870 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.550G>A (p.Asp184Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001900256] |
Chr2:97725239 [GRCh38] Chr2:98341702 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1220C>G (p.Ala407Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002010163] |
Chr2:97735387 [GRCh38] Chr2:98351850 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1318G>A (p.Glu440Lys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001918039] |
Chr2:97737501 [GRCh38] Chr2:98353964 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1255G>A (p.Gly419Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001978034] |
Chr2:97735422 [GRCh38] Chr2:98351885 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1124C>T (p.Thr375Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002026016] |
Chr2:97735291 [GRCh38] Chr2:98351754 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1256G>A (p.Gly419Asp) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001934622] |
Chr2:97735423 [GRCh38] Chr2:98351886 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1660C>G (p.Gln554Glu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001902316] |
Chr2:97738031 [GRCh38] Chr2:98354494 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.790+15C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002012616] |
Chr2:97733227 [GRCh38] Chr2:98349690 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NC_000002.11:g.(?_98349326)_(98355961_?)dup |
duplication |
ZAP70-Related Severe Combined Immunodeficiency [RCV001916276] |
Chr2:98349326..98355961 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.572C>T (p.Pro191Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001980756] |
Chr2:97732891 [GRCh38] Chr2:98349354 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.889+6C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001934089] |
Chr2:97733601 [GRCh38] Chr2:98350064 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.671C>T (p.Pro224Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001971883] |
Chr2:97732990 [GRCh38] Chr2:98349453 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1210G>A (p.Val404Ile) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001917163] |
Chr2:97735377 [GRCh38] Chr2:98351840 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.402+6A>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001990466] |
Chr2:97724444 [GRCh38] Chr2:98340907 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.202A>T (p.Thr68Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001921209] |
Chr2:97724238 [GRCh38] Chr2:98340701 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1083-11G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002028693] |
Chr2:97735239 [GRCh38] Chr2:98351702 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.643C>G (p.Gln215Glu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002018477] |
Chr2:97732962 [GRCh38] Chr2:98349425 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1340T>C (p.Met447Thr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001884300] |
Chr2:97737523 [GRCh38] Chr2:98353986 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1840G>C (p.Ala614Pro) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001906797] |
Chr2:97739478 [GRCh38] Chr2:98355941 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1312G>C (p.Val438Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV001993981] |
Chr2:97737495 [GRCh38] Chr2:98353958 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.732C>T (p.Asp244=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV002494197]|ZAP70-Related Severe Combined Immunodeficiency [RCV002104950] |
Chr2:97733154 [GRCh38] Chr2:98349617 [GRCh37] Chr2:2q11.2 |
benign|likely benign |
NM_001079.4(ZAP70):c.336G>A (p.Pro112=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002110693] |
Chr2:97724372 [GRCh38] Chr2:98340835 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.890-14C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002147505] |
Chr2:97734506 [GRCh38] Chr2:98350969 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1289+20G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002086847] |
Chr2:97735476 [GRCh38] Chr2:98351939 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1290-18C>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002168589] |
Chr2:97737455 [GRCh38] Chr2:98353918 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.558G>A (p.Lys186=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002107463] |
Chr2:97725247 [GRCh38] Chr2:98341710 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1702C>T (p.Leu568=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002189922] |
Chr2:97738073 [GRCh38] Chr2:98354536 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.537T>G (p.Ser179=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002125417] |
Chr2:97725226 [GRCh38] Chr2:98341689 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.702+17A>C |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002148652] |
Chr2:97733038 [GRCh38] Chr2:98349501 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.837+17T>C |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002114073] |
Chr2:97733360 [GRCh38] Chr2:98349823 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.790+16G>C |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002191591] |
Chr2:97733228 [GRCh38] Chr2:98349691 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.563+8G>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002153548] |
Chr2:97725260 [GRCh38] Chr2:98341723 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.315G>A (p.Pro105=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002166480] |
Chr2:97724351 [GRCh38] Chr2:98340814 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1290-11C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002151908] |
Chr2:97737462 [GRCh38] Chr2:98353925 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.702+11C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002094773] |
Chr2:97733032 [GRCh38] Chr2:98349495 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.873A>C (p.Gly291=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002147172] |
Chr2:97733579 [GRCh38] Chr2:98350042 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1140G>C (p.Thr380=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002150417] |
Chr2:97735307 [GRCh38] Chr2:98351770 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1797C>T (p.Ser599=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002096029] |
Chr2:97739435 [GRCh38] Chr2:98355898 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.624G>A (p.Val208=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002146521] |
Chr2:97732943 [GRCh38] Chr2:98349406 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1065C>A (p.Gly355=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002131598] |
Chr2:97734695 [GRCh38] Chr2:98351158 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1289+20G>C |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002173275] |
Chr2:97735476 [GRCh38] Chr2:98351939 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.791-12C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002193950] |
Chr2:97733285 [GRCh38] Chr2:98349748 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.352C>T (p.Leu118=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002193915] |
Chr2:97724388 [GRCh38] Chr2:98340851 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1083-19C>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002197661] |
Chr2:97735231 [GRCh38] Chr2:98351694 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1476C>T (p.Tyr492=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002220675] |
Chr2:97737659 [GRCh38] Chr2:98354122 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1299C>A (p.Ile433=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002139493] |
Chr2:97737482 [GRCh38] Chr2:98353945 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1082+16C>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002204094] |
Chr2:97734728 [GRCh38] Chr2:98351191 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1082+12C>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002178667] |
Chr2:97734724 [GRCh38] Chr2:98351187 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1653C>T (p.Phe551=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002141371] |
Chr2:97738024 [GRCh38] Chr2:98354487 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.369G>A (p.Val123=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002143017] |
Chr2:97724405 [GRCh38] Chr2:98340868 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.790+20G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002117849] |
Chr2:97733232 [GRCh38] Chr2:98349695 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.1623+9G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002098337] |
Chr2:97737906 [GRCh38] Chr2:98354369 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.790+19C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002163839] |
Chr2:97733231 [GRCh38] Chr2:98349694 [GRCh37] Chr2:2q11.2 |
benign |
NM_001079.4(ZAP70):c.435G>A (p.Gln145=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002219359] |
Chr2:97725124 [GRCh38] Chr2:98341587 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.729G>C (p.Ala243=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002164180] |
Chr2:97733151 [GRCh38] Chr2:98349614 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1752C>T (p.Pro584=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002154549] |
Chr2:97739390 [GRCh38] Chr2:98355853 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.549C>T (p.Thr183=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002120296] |
Chr2:97725238 [GRCh38] Chr2:98341701 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.543G>A (p.Ala181=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002103363] |
Chr2:97725232 [GRCh38] Chr2:98341695 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1482+7C>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003118082] |
Chr2:97737672 [GRCh38] Chr2:98354135 [GRCh37] Chr2:2q11.2 |
likely benign |
NC_000002.11:g.(?_98340500)_(98355961_?)dup |
duplication |
ZAP70-Related Severe Combined Immunodeficiency [RCV003122456] |
Chr2:98340500..98355961 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.329C>T (p.Pro110Leu) |
single nucleotide variant |
not specified [RCV002266309] |
Chr2:97724365 [GRCh38] Chr2:98340828 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13 |
pathogenic |
NM_001079.4(ZAP70):c.1450A>T (p.Lys484Ter) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003011837] |
Chr2:97737633 [GRCh38] Chr2:98354096 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.444G>C (p.Gln148His) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002295880] |
Chr2:97725133 [GRCh38] Chr2:98341596 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.815C>G (p.Ala272Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002299203] |
Chr2:97733321 [GRCh38] Chr2:98349784 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.761G>C (p.Cys254Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002773169] |
Chr2:97733183 [GRCh38] Chr2:98349646 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1333G>A (p.Val445Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002775882] |
Chr2:97737516 [GRCh38] Chr2:98353979 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.506C>T (p.Thr169Met) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002995351] |
Chr2:97725195 [GRCh38] Chr2:98341658 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1778T>C (p.Met593Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002882865] |
Chr2:97739416 [GRCh38] Chr2:98355879 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1624-18_1624-17del |
microsatellite |
ZAP70-Related Severe Combined Immunodeficiency [RCV002908056] |
Chr2:97737974..97737975 [GRCh38] Chr2:98354437..98354438 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1176G>C (p.Gln392His) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002948228] |
Chr2:97735343 [GRCh38] Chr2:98351806 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1637C>T (p.Pro546Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002842206] |
Chr2:97738008 [GRCh38] Chr2:98354471 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1126G>A (p.Glu376Lys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002904451] |
Chr2:97735293 [GRCh38] Chr2:98351756 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.90G>T (p.Ala30=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003017421] |
Chr2:97724126 [GRCh38] Chr2:98340589 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.330G>C (p.Pro110=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002947138] |
Chr2:97724366 [GRCh38] Chr2:98340829 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1110G>A (p.Val370=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002903551] |
Chr2:97735277 [GRCh38] Chr2:98351740 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1479C>T (p.Tyr493=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003081358] |
Chr2:97737662 [GRCh38] Chr2:98354125 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1624-4G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002948436] |
Chr2:97737991 [GRCh38] Chr2:98354454 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1370T>C (p.Phe457Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003018403] |
Chr2:97737553 [GRCh38] Chr2:98354016 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1002C>T (p.Arg334=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002659710] |
Chr2:97734632 [GRCh38] Chr2:98351095 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.402+4A>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002570219] |
Chr2:97724442 [GRCh38] Chr2:98340905 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1368C>A (p.Asn456Lys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002824547] |
Chr2:97737551 [GRCh38] Chr2:98354014 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.608T>C (p.Ile203Thr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002824549] |
Chr2:97732927 [GRCh38] Chr2:98349390 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.564-13C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003079585] |
Chr2:97732870 [GRCh38] Chr2:98349333 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1593G>A (p.Glu531=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003055314] |
Chr2:97737867 [GRCh38] Chr2:98354330 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.48G>C (p.Ser16=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002953043] |
Chr2:97724084 [GRCh38] Chr2:98340547 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1335G>A (p.Val445=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003037927] |
Chr2:97737518 [GRCh38] Chr2:98353981 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1736+18G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002624037] |
Chr2:97738125 [GRCh38] Chr2:98354588 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.380T>C (p.Val127Ala) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002663983] |
Chr2:97724416 [GRCh38] Chr2:98340879 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1339A>G (p.Met447Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002914850] |
Chr2:97737522 [GRCh38] Chr2:98353985 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1289+13T>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003007892] |
Chr2:97735469 [GRCh38] Chr2:98351932 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.728C>T (p.Ala243Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002958670] |
Chr2:97733150 [GRCh38] Chr2:98349613 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.21C>G (p.His7Gln) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002828183] |
Chr2:97724057 [GRCh38] Chr2:98340520 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.981C>T (p.Asp327=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003022316] |
Chr2:97734611 [GRCh38] Chr2:98351074 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.109C>A (p.Arg37Ser) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003023166] |
Chr2:97724145 [GRCh38] Chr2:98340608 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.377A>C (p.Tyr126Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002892173] |
Chr2:97724413 [GRCh38] Chr2:98340876 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1082+15G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002663596] |
Chr2:97734727 [GRCh38] Chr2:98351190 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1699G>A (p.Glu567Lys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002985339] |
Chr2:97738070 [GRCh38] Chr2:98354533 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.50G>T (p.Arg17Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002957543] |
Chr2:97724086 [GRCh38] Chr2:98340549 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1068G>T (p.Val356=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002894579] |
Chr2:97734698 [GRCh38] Chr2:98351161 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.542C>G (p.Ala181Gly) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003007226] |
Chr2:97725231 [GRCh38] Chr2:98341694 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.871G>A (p.Gly291Arg) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002828739] |
Chr2:97733577 [GRCh38] Chr2:98350040 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1829G>A (p.Ser610Asn) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002667679] |
Chr2:97739467 [GRCh38] Chr2:98355930 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1305G>A (p.Val435=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002575044] |
Chr2:97737488 [GRCh38] Chr2:98353951 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.791-14T>G |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002630101] |
Chr2:97733283 [GRCh38] Chr2:98349746 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1635G>A (p.Gly545=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002942040] |
Chr2:97738006 [GRCh38] Chr2:98354469 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.837+14del |
deletion |
ZAP70-Related Severe Combined Immunodeficiency [RCV002835386] |
Chr2:97733357 [GRCh38] Chr2:98349820 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1707C>T (p.Tyr569=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002602872] |
Chr2:97738078 [GRCh38] Chr2:98354541 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1289+20G>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003028429] |
Chr2:97735476 [GRCh38] Chr2:98351939 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.48G>A (p.Ser16=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002810615] |
Chr2:97724084 [GRCh38] Chr2:98340547 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.406G>A (p.Glu136Lys) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002938887] |
Chr2:97725095 [GRCh38] Chr2:98341558 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1278G>A (p.Leu426=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003047810] |
Chr2:97735445 [GRCh38] Chr2:98351908 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1295A>T (p.Glu432Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002856500] |
Chr2:97737478 [GRCh38] Chr2:98353941 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1082+9G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003088188] |
Chr2:97734721 [GRCh38] Chr2:98351184 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.129G>C (p.Leu43=) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002898705] |
Chr2:97724165 [GRCh38] Chr2:98340628 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.791-17C>T |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003046105] |
Chr2:97733280 [GRCh38] Chr2:98349743 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1214G>A (p.Cys405Tyr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002833238] |
Chr2:97735381 [GRCh38] Chr2:98351844 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.835C>T (p.His279Tyr) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002646746] |
Chr2:97733341 [GRCh38] Chr2:98349804 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.702+12G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003051109] |
Chr2:97733033 [GRCh38] Chr2:98349496 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.833C>T (p.Thr278Ile) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003050210] |
Chr2:97733339 [GRCh38] Chr2:98349802 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1075A>T (p.Met359Leu) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003051925] |
Chr2:97734705 [GRCh38] Chr2:98351168 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.403-11_403-10del |
microsatellite |
ZAP70-Related Severe Combined Immunodeficiency [RCV003052417] |
Chr2:97725078..97725079 [GRCh38] Chr2:98341541..98341542 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.523C>G (p.Arg175Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002607792]|ZAP70-Related Severe Combined Immunodeficiency [RCV002607791] |
Chr2:97725212 [GRCh38] Chr2:98341675 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1290-19G>A |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV002635037] |
Chr2:97737454 [GRCh38] Chr2:98353917 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.37G>T (p.Gly13Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003256779] |
Chr2:97724073 [GRCh38] Chr2:98340536 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.939C>T (p.Ser313=) |
single nucleotide variant |
Combined immunodeficiency due to ZAP70 deficiency [RCV003224758] |
Chr2:97734569 [GRCh38] Chr2:98351032 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.563+93C>T |
single nucleotide variant |
not provided [RCV003227344] |
Chr2:97725345 [GRCh38] Chr2:98341808 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1341G>T (p.Met447Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003261500] |
Chr2:97737524 [GRCh38] Chr2:98353987 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.493del (p.His165fs) |
deletion |
Combined immunodeficiency due to ZAP70 deficiency [RCV003228204] |
Chr2:97725181 [GRCh38] Chr2:98341644 [GRCh37] Chr2:2q11.2 |
pathogenic |
NM_001079.4(ZAP70):c.479G>A (p.Arg160Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003381446] |
Chr2:97725168 [GRCh38] Chr2:98341631 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1015A>G (p.Ile339Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003384693] |
Chr2:97734645 [GRCh38] Chr2:98351108 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.197A>G (p.Asn66Ser) |
single nucleotide variant |
not provided [RCV003481607] |
Chr2:97724233 [GRCh38] Chr2:98340696 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3 |
copy number gain |
not provided [RCV003484069] |
Chr2:95773428..102550061 [GRCh37] Chr2:2q11.1-11.2 |
likely pathogenic |
GRCh37/hg19 2q11.2(chr2:98165095-98974536)x3 |
copy number gain |
not provided [RCV003484072] |
Chr2:98165095..98974536 [GRCh37] Chr2:2q11.2 |
uncertain significance |
GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3 |
copy number gain |
not provided [RCV003484071] |
Chr2:96732520..99142320 [GRCh37] Chr2:2q11.1-11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.1317C>T (p.Ala439=) |
single nucleotide variant |
not provided [RCV003436057] |
Chr2:97737500 [GRCh38] Chr2:98353963 [GRCh37] Chr2:2q11.2 |
likely benign |
NM_001079.4(ZAP70):c.1289G>A (p.Arg430Lys) |
single nucleotide variant |
ZAP70-related condition [RCV003429049] |
Chr2:97735456 [GRCh38] Chr2:98351919 [GRCh37] Chr2:2q11.2 |
uncertain significance |
NM_001079.4(ZAP70):c.17C>T (p.Ala6Val) |
single nucleotide variant |
ZAP70-Related Severe Combined Immunodeficiency [RCV003875884] |
Chr2:97724053 [GRCh38] Chr2:98340516 [GRCh37] Chr2:2q11.2 |
uncertain significance |