NM_139276.3(STAT3):c.2125A>G (p.Lys709Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005222989]|not provided [RCV000523482] |
Chr17:42317201 [GRCh38] Chr17:40469219 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1384GTG[1] (p.Val463del) |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000019965]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001851955]|not provided [RCV000255324] |
Chr17:42325038..42325040 [GRCh38] Chr17:40477056..40477058 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1144C>T (p.Arg382Trp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000019966]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000814004]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004795931]|STAT3-related early-onset multisystem autoimmune disease [RCV003149573]|not provided [RCV000259784] |
Chr17:42329643 [GRCh38] Chr17:40481661 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1145G>A (p.Arg382Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000019967]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001059385]|Inherited Immunodeficiency Diseases [RCV001027632]|not provided [RCV001311887] |
Chr17:42329642 [GRCh38] Chr17:40481660 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1268G>A (p.Arg423Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000019968]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003764611]|STAT3-related early-onset multisystem autoimmune disease [RCV001333533] |
Chr17:42329423 [GRCh38] Chr17:40481441 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1145G>T (p.Arg382Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000019969] |
Chr17:42329642 [GRCh38] Chr17:40481660 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1909G>A (p.Val637Met) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000019970]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653282]|Hyper-IgE syndrome [RCV000587895]|not provided [RCV000317206] |
Chr17:42322474 [GRCh38] Chr17:40474492 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1140-2A>C |
single nucleotide variant |
not provided [RCV000144364] |
Chr17:42329649 [GRCh38] Chr17:40481667 [GRCh37] Chr17:17q21.2 |
not provided |
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38] Chr17:48563237..65936105 [GRCh37] Chr17:45918236..63677950 [NCBI36] Chr17:17q21.33-24.2 |
pathogenic |
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030463]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000536459]|not provided [RCV000427432] |
Chr17:42333719 [GRCh38] Chr17:40485737 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030464]|STAT3-related early-onset multisystem autoimmune disease [RCV000210430] |
Chr17:42329448 [GRCh38] Chr17:40481466 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.1365+146dup |
duplication |
not provided [RCV001552827]|not specified [RCV001804158] |
Chr17:42325969..42325970 [GRCh38] Chr17:40477987..40477988 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
STAT3:c.1601-72_1601-71del |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030466]|not provided [RCV001580450] |
Chr17:42323696..42323697 [GRCh38] Chr17:40475714..40475715 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1654-11C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030467]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001513809]|not provided [RCV001618220] |
Chr17:42323365 [GRCh38] Chr17:40475383 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030468]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002513264] |
Chr17:42323120 [GRCh38] Chr17:40475138 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030469]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005222709] |
Chr17:42323112 [GRCh38] Chr17:40475130 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030470]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000792130] |
Chr17:42322413 [GRCh38] Chr17:40474431 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030471] |
Chr17:42317192 [GRCh38] Chr17:40469210 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
STAT3:c.469-34_469-30del |
deletion |
not provided [RCV001574812]|not specified [RCV001844019] |
Chr17:42338842..42338846 [GRCh38] Chr17:40490860..40490864 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_139276.3(STAT3):c.711C>T (p.Asp237=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000030473]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653283]|STAT3-related disorder [RCV003924869]|not provided [RCV001650851] |
Chr17:42337521 [GRCh38] Chr17:40489539 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.986T>A (p.Met329Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000556500] |
Chr17:42333736 [GRCh38] Chr17:40485754 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.832C>T (p.Arg278Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000811844]|not provided [RCV000523018] |
Chr17:42334015 [GRCh38] Chr17:40486033 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1166C>T (p.Thr389Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000054835] |
Chr17:42329621 [GRCh38] Chr17:40481639 [GRCh37] Chr17:17q21.2 |
pathogenic |
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38] Chr17:58617905..81044553 [GRCh37] Chr17:55972687..78637842 [NCBI36] Chr17:17q23.2-25.3 |
pathogenic |
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 |
copy number gain |
See cases [RCV000052479] |
Chr17:39199873..45629579 [GRCh38] Chr17:37356126..43706945 [GRCh37] Chr17:34609652..41062728 [NCBI36] Chr17:17q12-21.31 |
pathogenic |
NM_139276.3(STAT3):c.1868G>T (p.Trp623Leu) |
single nucleotide variant |
not provided [RCV000171258] |
Chr17:42323024 [GRCh38] Chr17:40475042 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000335699]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000548514]|not provided [RCV001812114]|not specified [RCV001001784] |
Chr17:42325046 [GRCh38] Chr17:40477064 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38] Chr17:57595736..73049225 [GRCh37] Chr17:54950518..70560820 [NCBI36] Chr17:17q23.1-25.1 |
pathogenic |
NM_139276.3(STAT3):c.1919_1920delinsTT (p.Tyr640Phe) |
indel |
not specified [RCV001290672] |
Chr17:42322463..42322464 [GRCh38] Chr17:40474481..40474482 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_003150.3(STAT3):c.2147C>T (p.Thr716Ile) |
single nucleotide variant |
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET [RCV000133536]|Autoimmune disease, multisystem, infantile-onset [RCV000133536] |
Chr17:42316896 [GRCh38] Chr17:40468914 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1938C>G (p.Asn646Lys) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000133538] |
Chr17:42322445 [GRCh38] Chr17:40474463 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1974G>C (p.Lys658Asn) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000133539] |
Chr17:42322409 [GRCh38] Chr17:40474427 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1175A>G (p.Lys392Arg) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000133537] |
Chr17:42329612 [GRCh38] Chr17:40481630 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1601-10dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001523206]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001808417]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002492564]|Hyper-IgE syndrome [RCV000402556]|STAT3-related early-onset multisystem autoimmune disease [RCV001808418]|not provided [RCV001704093]|not specified [RCV000151933] |
Chr17:42323632..42323633 [GRCh38] Chr17:40475650..40475651 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1840A>G (p.Ser614Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005222859]|not provided [RCV000254755] |
Chr17:42323052 [GRCh38] Chr17:40475070 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000792133]|Hyper-IgE syndrome [RCV000586892]|not provided [RCV000255312] |
Chr17:42322404 [GRCh38] Chr17:40474422 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.1366-11T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003765377]|not specified [RCV000217146] |
Chr17:42325072 [GRCh38] Chr17:40477090 [GRCh37] Chr17:17q21.2 |
likely benign |
STAT3, ALA703THR |
variation |
Autoimmune disease, multisystem, infantile-onset [RCV000223668] |
|
pathogenic |
STAT3, THR663ILE |
variation |
Autoimmune disease, multisystem, infantile-onset [RCV000223672] |
|
pathogenic |
STAT3, GLN344HIS |
variation |
Autoimmune disease, multisystem, infantile-onset [RCV000223679] |
|
pathogenic |
NM_139276.3(STAT3):c.1366-9C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003765378]|not specified [RCV000222106] |
Chr17:42325070 [GRCh38] Chr17:40477088 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1032G>C (p.Gln344His) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000210413] |
Chr17:42333690 [GRCh38] Chr17:40485708 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653278]|STAT3-related early-onset multisystem autoimmune disease [RCV000210415]|not provided [RCV000224259] |
Chr17:42316899 [GRCh38] Chr17:40468917 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653281]|STAT3-related early-onset multisystem autoimmune disease [RCV000210417]|not provided [RCV005055741] |
Chr17:42339328 [GRCh38] Chr17:40491346 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001302951]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001775103]|STAT3-related disorder [RCV004545762]|STAT3-related early-onset multisystem autoimmune disease [RCV000210420]|not provided [RCV000489679] |
Chr17:42329430 [GRCh38] Chr17:40481448 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1057G>T (p.Val353Phe) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000210422] |
Chr17:42331524 [GRCh38] Chr17:40483542 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000210425] |
Chr17:42329431 [GRCh38] Chr17:40481449 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000210428]|not provided [RCV000788237] |
Chr17:42322395 [GRCh38] Chr17:40474413 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV000210433] |
Chr17:42317219 [GRCh38] Chr17:40469237 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.618G>A (p.Met206Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001368125] |
Chr17:42337790 [GRCh38] Chr17:40489808 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2144+20C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001522657]|not provided [RCV001689935]|not specified [RCV000254478] |
Chr17:42317162 [GRCh38] Chr17:40469180 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.405C>T (p.Ala135=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000265920]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000923792]|not provided [RCV003457671] |
Chr17:42339377 [GRCh38] Chr17:40491395 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*342GTT[3] |
microsatellite |
Hyper-IgE syndrome [RCV000272708] |
Chr17:42315392..42315394 [GRCh38] Chr17:40467410..40467412 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.*730G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000297315] |
Chr17:42315015 [GRCh38] Chr17:40467033 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*1383G>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000390598] |
Chr17:42314362 [GRCh38] Chr17:40466380 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*2147A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000307257]|not provided [RCV004709636] |
Chr17:42313598 [GRCh38] Chr17:40465616 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.*894del |
deletion |
Hyper-IgE syndrome [RCV000356966] |
Chr17:42314851 [GRCh38] Chr17:40466869 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*893dup |
duplication |
Hyper-IgE syndrome [RCV000262227] |
Chr17:42314851..42314852 [GRCh38] Chr17:40466869..40466870 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1125G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000393424] |
Chr17:42314620 [GRCh38] Chr17:40466638 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*1316A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000345076] |
Chr17:42314429 [GRCh38] Chr17:40466447 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*669C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000361366] |
Chr17:42315076 [GRCh38] Chr17:40467094 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.-162A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000271708] |
Chr17:42388417 [GRCh38] Chr17:40540435 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1671C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000323761]|not provided [RCV004709638] |
Chr17:42314074 [GRCh38] Chr17:42314074..42314075 [GRCh38] Chr17:40466092 [GRCh37] Chr17:40466092..40466093 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.*2002G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000276819] |
Chr17:42313743 [GRCh38] Chr17:40465761 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.-140C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000366325]|not provided [RCV001636911] |
Chr17:42388395 [GRCh38] Chr17:40540413 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_139276.3(STAT3):c.*1853A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000367659]|not provided [RCV004709637] |
Chr17:42313892 [GRCh38] Chr17:40465910 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1519G>T (p.Val507Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000299414]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001306031]|not specified [RCV001420949] |
Chr17:42324792 [GRCh38] Chr17:40476810 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.2(STAT3):c.-195G>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000326708]|not provided [RCV001712045] |
Chr17:42388450 [GRCh38] Chr17:40540468 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_139276.3(STAT3):c.*584T>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000321974] |
Chr17:42315161 [GRCh38] Chr17:40467179 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.*1497G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000284080] |
Chr17:42314248 [GRCh38] Chr17:40466266 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.*264dup |
duplication |
Hyper-IgE syndrome [RCV000327746]|not provided [RCV003422284] |
Chr17:42315480..42315481 [GRCh38] Chr17:40467498..40467499 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*582A>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000376355] |
Chr17:42315163 [GRCh38] Chr17:40467181 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*1850C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000263808] |
Chr17:42313895 [GRCh38] Chr17:40465913 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1517G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000378401] |
Chr17:42314228 [GRCh38] Chr17:40466246 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*211A>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000287524] |
Chr17:42315534 [GRCh38] Chr17:40467552 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*1931A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000331642] |
Chr17:42313814 [GRCh38] Chr17:40465832 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*1325A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000290036]|not provided [RCV004709639] |
Chr17:42314420 [GRCh38] Chr17:40466438 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.*895A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000311607] |
Chr17:42314850 [GRCh38] Chr17:40466868 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1854C>T (p.Gly618=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000293387]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653288]|not provided [RCV001683300]|not specified [RCV001820965] |
Chr17:42323038 [GRCh38] Chr17:40475056 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*646T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000266823] |
Chr17:42315099 [GRCh38] Chr17:40467117 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1237C>T (p.Leu413=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000398122]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000934430] |
Chr17:42329454 [GRCh38] Chr17:40481472 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.*1673C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000278141] |
Chr17:42314072 [GRCh38] Chr17:40466090 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2091T>A (p.Ala697=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000387611]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000938666]|not provided [RCV001613039]|not specified [RCV003155161] |
Chr17:42322292 [GRCh38] Chr17:40474310 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.*1196T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000351312] |
Chr17:42314549 [GRCh38] Chr17:40466567 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.992T>G (p.Met331Arg) |
single nucleotide variant |
not provided [RCV000488939] |
Chr17:42333730 [GRCh38] Chr17:40485748 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.-55C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000302202] |
Chr17:42388310 [GRCh38] Chr17:40540328 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1266G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000315197] |
Chr17:42314479 [GRCh38] Chr17:40466497 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*260G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000382275] |
Chr17:42315485 [GRCh38] Chr17:40467503 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*2340dup |
duplication |
Hyper-IgE syndrome [RCV000365061] |
Chr17:42313404..42313405 [GRCh38] Chr17:40465422..40465423 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp) |
single nucleotide variant |
Hyper-IgE syndrome [RCV000305916] |
Chr17:42331480 [GRCh38] Chr17:40483498 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1850C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000318972] |
Chr17:42313895 [GRCh38] Chr17:40465913 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2216A>G (p.Asn739Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000351839] |
Chr17:42316830 [GRCh38] Chr17:40468848 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*2144C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000371360] |
Chr17:42313601 [GRCh38] Chr17:40465619 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1675T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000372678] |
Chr17:42314070 [GRCh38] Chr17:40466088 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*2343del |
deletion |
Hyper-IgE syndrome [RCV000310338] |
Chr17:42313402 [GRCh38] Chr17:40465420 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1415C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000339096] |
Chr17:42314330 [GRCh38] Chr17:40466348 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1270C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000393438] |
Chr17:42314475 [GRCh38] Chr17:40466493 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*2343_*2344del |
deletion |
Hyper-IgE syndrome [RCV000340795] |
Chr17:42313401..42313402 [GRCh38] Chr17:40465419..40465420 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*2255G>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000396939] |
Chr17:42313490 [GRCh38] Chr17:40465508 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.657T>C (p.Ser219=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000360596]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002056599] |
Chr17:42337575 [GRCh38] Chr17:40489593 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1680C>T (p.Ser560=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001079701]|STAT3-related disorder [RCV003962657]|not provided [RCV000590018] |
Chr17:42323328 [GRCh38] Chr17:40475346 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004559046]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001036591]|Malignant lymphoma, large B-cell, diffuse [RCV003448978]|not provided [RCV000414550]|not specified [RCV001420711] |
Chr17:42322464 [GRCh38] Chr17:40474482 [GRCh37] Chr17:17q21.2 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_139276.3(STAT3):c.646-18G>A |
single nucleotide variant |
not specified [RCV000431258] |
Chr17:42337604 [GRCh38] Chr17:40489622 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1281+11T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002525428]|not specified [RCV000417962] |
Chr17:42329399 [GRCh38] Chr17:40481417 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.690C>T (p.Tyr230=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001436832]|not provided [RCV000940712] |
Chr17:42337542 [GRCh38] Chr17:40489560 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2281T>C (p.Leu761=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000883324]|not specified [RCV000435057] |
Chr17:42315777 [GRCh38] Chr17:40467795 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1397A>C (p.Asn466Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002521588]|not provided [RCV000417632] |
Chr17:42325030 [GRCh38] Chr17:40477048 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.1414A>G (p.Asn472Asp) |
single nucleotide variant |
not provided [RCV000424764] |
Chr17:42325013 [GRCh38] Chr17:40477031 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.373-4G>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001339558]|not specified [RCV000429165] |
Chr17:42339413 [GRCh38] Chr17:40491431 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.225G>A (p.Ser75=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000960560]|not provided [RCV004703932]|not specified [RCV000443120] |
Chr17:42346617 [GRCh38] Chr17:40498635 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.1969_1971delinsCAG (p.Tyr657Gln) |
indel |
not provided [RCV000481189] |
Chr17:42322412..42322414 [GRCh38] Chr17:40474430..40474432 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001216892]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002063763]|Inborn genetic diseases [RCV000624252]|Inherited Immunodeficiency Diseases [RCV001027630]|STAT3-related disorder [RCV003401539]|STAT3-related early-onset multisystem autoimmune disease [RCV003105918]|not provided [RCV000482055] |
Chr17:42317182 [GRCh38] Chr17:40469200 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.1366-15_1366-5del |
deletion |
not provided [RCV000485819] |
Chr17:42325066..42325076 [GRCh38] Chr17:40477084..40477094 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.709_712del (p.Asp237fs) |
deletion |
not provided [RCV000486355] |
Chr17:42337520..42337523 [GRCh38] Chr17:40489538..40489541 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1744G>A (p.Glu582Lys) |
single nucleotide variant |
not provided [RCV000479618] |
Chr17:42323264 [GRCh38] Chr17:40475282 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1397A>G (p.Asn466Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003987557]|not provided [RCV000486952] |
Chr17:42325030 [GRCh38] Chr17:40477048 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.551-57_551-18del |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001451149]|not specified [RCV000482684] |
Chr17:42337875..42337914 [GRCh38] Chr17:40489893..40489932 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1943T>A (p.Met648Lys) |
single nucleotide variant |
not provided [RCV000479714] |
Chr17:42322440 [GRCh38] Chr17:40474458 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1846G>C (p.Glu616Gln) |
single nucleotide variant |
not provided [RCV000480426] |
Chr17:42323046 [GRCh38] Chr17:40475064 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.475G>A (p.Glu159Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002524075]|not provided [RCV000498783] |
Chr17:42338806 [GRCh38] Chr17:40490824 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1863C>A (p.Phe621Leu) |
single nucleotide variant |
not provided [RCV000498330] |
Chr17:42323029 [GRCh38] Chr17:40475047 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.2131A>G (p.Ile711Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003139697]|not provided [RCV000493699] |
Chr17:42317195 [GRCh38] Chr17:40469213 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_139276.3(STAT3):c.1022C>T (p.Thr341Ile) |
single nucleotide variant |
not provided [RCV000494272] |
Chr17:42333700 [GRCh38] Chr17:40485718 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.2117T>C (p.Leu706Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000695153]|not provided [RCV000493323] |
Chr17:42317209 [GRCh38] Chr17:40469227 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.1976T>A (p.Ile659Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000585688]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001860114] |
Chr17:42322407 [GRCh38] Chr17:40474425 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.2228G>T (p.Gly743Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000707338]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000768099]|STAT3-related disorder [RCV003935696]|not provided [RCV001719019] |
Chr17:42316818 [GRCh38] Chr17:40468836 [GRCh37] Chr17:17q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_139276.3(STAT3):c.498G>C (p.Glu166Asp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653279] |
Chr17:42338783 [GRCh38] Chr17:40490801 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1328C>T (p.Thr443Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653280] |
Chr17:42326153 [GRCh38] Chr17:40478171 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1492A>G (p.Ile498Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653285]|STAT3-related disorder [RCV003937996]|not provided [RCV004584787]|not specified [RCV003151129] |
Chr17:42324819 [GRCh38] Chr17:40476837 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1888+9G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653286] |
Chr17:42322995 [GRCh38] Chr17:40475013 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.552C>T (p.Asp184=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653287] |
Chr17:42337856 [GRCh38] Chr17:40489874 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1888+6G>A |
single nucleotide variant |
not specified [RCV000612728] |
Chr17:42322998 [GRCh38] Chr17:40475016 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1467T>A (p.Asn489Lys) |
single nucleotide variant |
Adenoid cystic carcinoma [RCV000585775] |
Chr17:42324844 [GRCh38] Chr17:40476862 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1863C>G (p.Phe621Leu) |
single nucleotide variant |
not provided [RCV000586185] |
Chr17:42323029 [GRCh38] Chr17:40475047 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1233+20C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003767722]|not specified [RCV000608994] |
Chr17:42329534 [GRCh38] Chr17:40481552 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1600+11C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003767498]|not specified [RCV000611812] |
Chr17:42324700 [GRCh38] Chr17:40476718 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2288C>T (p.Ser763Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001069947]|not provided [RCV001543695]|not specified [RCV000604841] |
Chr17:42315770 [GRCh38] Chr17:40467788 [GRCh37] Chr17:17q21.2 |
benign|likely benign|uncertain significance |
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000624987]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000653284]|not specified [RCV000611770] |
Chr17:42326152 [GRCh38] Chr17:40478170 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_139276.3(STAT3):c.1853G>A (p.Gly618Asp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000605582] |
Chr17:42323039 [GRCh38] Chr17:40475057 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1255G>A (p.Gly419Arg) |
single nucleotide variant |
not provided [RCV000658778] |
Chr17:42329436 [GRCh38] Chr17:40481454 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.373C>G (p.Gln125Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001433648]|STAT3-related early-onset multisystem autoimmune disease [RCV001198591]|not provided [RCV000658779]|not specified [RCV001816659] |
Chr17:42339409 [GRCh38] Chr17:40491427 [GRCh37] Chr17:17q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_139276.3(STAT3):c.1600+5G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000687758] |
Chr17:42324706 [GRCh38] Chr17:40476724 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.523A>C (p.Asn175His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000707113]|STAT3-related disorder [RCV004731020] |
Chr17:42338758 [GRCh38] Chr17:40490776 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1636T>C (p.Trp546Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000691777] |
Chr17:42323590 [GRCh38] Chr17:40475608 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.274-3T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000689352] |
Chr17:42345660 [GRCh38] Chr17:40497678 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.973C>T (p.Arg325Trp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000686060] |
Chr17:42333749 [GRCh38] Chr17:40485767 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1906T>C (p.Ser636Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000706399] |
Chr17:42322477 [GRCh38] Chr17:40474495 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.38G>A (p.Arg13Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000707027]|not provided [RCV001772013] |
Chr17:42348479 [GRCh38] Chr17:40500497 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1249A>G (p.Arg417Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000704931] |
Chr17:42329442 [GRCh38] Chr17:40481460 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000688477]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000989850] |
Chr17:42323033 [GRCh38] Chr17:40475051 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.307C>T (p.Arg103Trp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000686341] |
Chr17:42345624 [GRCh38] Chr17:40497642 [GRCh37] Chr17:17q21.2 |
uncertain significance |
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3 |
pathogenic |
NM_139276.3(STAT3):c.762C>G (p.Gly254=) |
single nucleotide variant |
not provided [RCV000937777] |
Chr17:42337470 [GRCh38] Chr17:40489488 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg) |
single nucleotide variant |
EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma [RCV003320250]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003771695]|See cases [RCV002287502]|not specified [RCV001553660] |
Chr17:42323040 [GRCh38] Chr17:40475058 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.2295C>T (p.Cys765=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000938582] |
Chr17:42315763 [GRCh38] Chr17:40467781 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.905G>A (p.Arg302Gln) |
single nucleotide variant |
not provided [RCV000761952] |
Chr17:42333942 [GRCh38] Chr17:40485960 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1600+62G>C |
single nucleotide variant |
not provided [RCV001663253] |
Chr17:42324649 [GRCh38] Chr17:40476667 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1143C>G (p.Ser381=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000884295]|not provided [RCV001700493] |
Chr17:42329644 [GRCh38] Chr17:40481662 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.1011C>T (p.Leu337=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001514037] |
Chr17:42333711 [GRCh38] Chr17:40485729 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1536C>T (p.Phe512=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001455175] |
Chr17:42324775 [GRCh38] Chr17:40476793 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.138G>A (p.Ala46=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000925037] |
Chr17:42346704 [GRCh38] Chr17:40498722 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1116T>C (p.Ser372=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003768851] |
Chr17:42329770 [GRCh38] Chr17:40481788 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2301C>T (p.Thr767=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000903009] |
Chr17:42315757 [GRCh38] Chr17:40467775 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-5C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003768859] |
Chr17:42337862 [GRCh38] Chr17:40489880 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.825T>G (p.Leu275=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000900142]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001126351]|STAT3-related disorder [RCV003958128]|not specified [RCV003235433] |
Chr17:42334022 [GRCh38] Chr17:40486040 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_003150.4(STAT3):c.1282G>C (p.Ala428Pro) |
single nucleotide variant |
Esophageal atresia [RCV000984686] |
Chr17:42326199 [GRCh38] Chr17:40478217 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2015A>G (p.Tyr672Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001050700] |
Chr17:42322368 [GRCh38] Chr17:40474386 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.833G>A (p.Arg278His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001054381] |
Chr17:42334014 [GRCh38] Chr17:40486032 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001070774]|STAT3-related disorder [RCV004754562]|not provided [RCV004569490]|not specified [RCV000781324] |
Chr17:42322301 [GRCh38] Chr17:40474319 [GRCh37] Chr17:17q21.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_139276.3(STAT3):c.1366-20A>G |
single nucleotide variant |
not specified [RCV000780763] |
Chr17:42325081 [GRCh38] Chr17:40477099 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001045489]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005056543] |
Chr17:42329457 [GRCh38] Chr17:40481475 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1234-4dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001437691]|not specified [RCV000781884] |
Chr17:42329460..42329461 [GRCh38] Chr17:40481478..40481479 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.372+10G>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002536874]|not specified [RCV000781885] |
Chr17:42345549 [GRCh38] Chr17:40497567 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1540T>A (p.Ser514Thr) |
single nucleotide variant |
not provided [RCV000788825] |
Chr17:42324771 [GRCh38] Chr17:40476789 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.551-1G>A |
single nucleotide variant |
not provided [RCV000788929] |
Chr17:42337858 [GRCh38] Chr17:40489876 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1282-10G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001452445] |
Chr17:42326209 [GRCh38] Chr17:40478227 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1203C>T (p.Asn401=) |
single nucleotide variant |
not provided [RCV000937776] |
Chr17:42329584 [GRCh38] Chr17:40481602 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1380A>G (p.Pro460=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002544623] |
Chr17:42325047 [GRCh38] Chr17:40477065 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2296G>A (p.Ala766Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002068676] |
Chr17:42315762 [GRCh38] Chr17:40467780 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-8A>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000979715]|STAT3-related disorder [RCV003897984] |
Chr17:42345665 [GRCh38] Chr17:40497683 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-4G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000909520]|STAT3-related disorder [RCV003968374]|not specified [RCV001193227] |
Chr17:42337861 [GRCh38] Chr17:40489879 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.1776G>A (p.Glu592=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000938513] |
Chr17:42323116 [GRCh38] Chr17:40475134 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.129-250G>A |
single nucleotide variant |
not provided [RCV000837291] |
Chr17:42346963 [GRCh38] Chr17:40498981 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.70G>A (p.Asp24Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000813071] |
Chr17:42348447 [GRCh38] Chr17:40500465 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1831A>G (p.Ser611Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000819114] |
Chr17:42323061 [GRCh38] Chr17:40475079 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1393T>G (p.Ser465Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000813988] |
Chr17:42325034 [GRCh38] Chr17:40477052 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.875C>G (p.Ser292Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000817552] |
Chr17:42333972 [GRCh38] Chr17:40485990 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1516G>A (p.Glu506Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000816092] |
Chr17:42324795 [GRCh38] Chr17:40476813 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1230C>G (p.His410Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000804908] |
Chr17:42329557 [GRCh38] Chr17:40481575 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.798-251T>A |
single nucleotide variant |
not provided [RCV000828760] |
Chr17:42334300 [GRCh38] Chr17:40486318 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.779T>C (p.Leu260Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000810893]|not provided [RCV000996548] |
Chr17:42337453 [GRCh38] Chr17:40489471 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.550+190C>A |
single nucleotide variant |
not provided [RCV000836604] |
Chr17:42338541 [GRCh38] Chr17:40490559 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.550+190_550+229del |
deletion |
not provided [RCV000836630] |
Chr17:42338502..42338541 [GRCh38] Chr17:40490520..40490559 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1263G>A (p.Gly421=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001437200] |
Chr17:42329428 [GRCh38] Chr17:40481446 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.373-253G>C |
single nucleotide variant |
not provided [RCV000826425] |
Chr17:42339662 [GRCh38] Chr17:40491680 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1437G>T (p.Trp479Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000815404] |
Chr17:42324990 [GRCh38] Chr17:40477008 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.551-64A>C |
single nucleotide variant |
not provided [RCV000837115] |
Chr17:42337921 [GRCh38] Chr17:40489939 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1199A>T (p.Asn400Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000809569] |
Chr17:42329588 [GRCh38] Chr17:40481606 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.468+197C>T |
single nucleotide variant |
not provided [RCV000833739] |
Chr17:42339117 [GRCh38] Chr17:40491135 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1109+87G>A |
single nucleotide variant |
not provided [RCV000833740] |
Chr17:42331385 [GRCh38] Chr17:40483403 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1843A>G (p.Lys615Glu) |
single nucleotide variant |
not provided [RCV000788454] |
Chr17:42323049 [GRCh38] Chr17:40475067 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1139+1G>T |
single nucleotide variant |
not provided [RCV000788623] |
Chr17:42329746 [GRCh38] Chr17:40481764 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.273+263G>A |
single nucleotide variant |
not provided [RCV000832678] |
Chr17:42346306 [GRCh38] Chr17:40498324 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.550+230A>C |
single nucleotide variant |
not provided [RCV000837114] |
Chr17:42338501 [GRCh38] Chr17:40490519 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1993A>T (p.Ile665Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000818722] |
Chr17:42322390 [GRCh38] Chr17:40474408 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1311C>A (p.His437Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000822142] |
Chr17:42326170 [GRCh38] Chr17:40478188 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1905G>C (p.Gln635His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000809972] |
Chr17:42322478 [GRCh38] Chr17:40474496 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.385G>A (p.Ala129Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000804971] |
Chr17:42339397 [GRCh38] Chr17:40491415 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.550+210A>C |
single nucleotide variant |
not provided [RCV000836605] |
Chr17:42338521 [GRCh38] Chr17:40490539 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.128+142G>T |
single nucleotide variant |
not provided [RCV000836632] |
Chr17:42348247 [GRCh38] Chr17:42348247..42348248 [GRCh38] Chr17:40500265 [GRCh37] Chr17:40500265..40500266 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.129-213A>G |
single nucleotide variant |
not provided [RCV000836633] |
Chr17:42346926 [GRCh38] Chr17:40498944 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1888+142C>G |
single nucleotide variant |
not provided [RCV000836635]|not specified [RCV003396483] |
Chr17:42322862 [GRCh38] Chr17:40474880 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1888+158T>C |
single nucleotide variant |
not provided [RCV000836636] |
Chr17:42322846 [GRCh38] Chr17:40474864 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.550+250C>A |
single nucleotide variant |
not provided [RCV000836786] |
Chr17:42338481 [GRCh38] Chr17:40490499 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-44A>C |
single nucleotide variant |
not provided [RCV000836787] |
Chr17:42337901 [GRCh38] Chr17:40489919 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.797+185C>T |
single nucleotide variant |
not provided [RCV000836790] |
Chr17:42337250 [GRCh38] Chr17:40489268 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2258-181C>A |
single nucleotide variant |
not provided [RCV000837305] |
Chr17:42315981 [GRCh38] Chr17:40467999 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2223T>C (p.Gly741=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003768472]|not provided [RCV000788465] |
Chr17:42316823 [GRCh38] Chr17:40468841 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_139276.3(STAT3):c.468+201C>T |
single nucleotide variant |
not provided [RCV000834579] |
Chr17:42339113 [GRCh38] Chr17:40491131 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.465G>A (p.Val155=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002544578] |
Chr17:42339317 [GRCh38] Chr17:40491335 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.373-5G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000823041] |
Chr17:42339414 [GRCh38] Chr17:40491432 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.103G>T (p.Ala35Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000814155] |
Chr17:42348414 [GRCh38] Chr17:40500432 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1562G>A (p.Ser521Asn) |
single nucleotide variant |
not provided [RCV000788799] |
Chr17:42324749 [GRCh38] Chr17:40476767 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.957-7del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000975746] |
Chr17:42333772 [GRCh38] Chr17:40485790 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000989849] |
Chr17:42317194 [GRCh38] Chr17:40469212 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.281A>G (p.Tyr94Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001201701] |
Chr17:42345650 [GRCh38] Chr17:40497668 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1110-1_1112del |
deletion |
Hyper-IgE recurrent infection syndrome 1 [RCV001210638] |
Chr17:42329774..42329777 [GRCh38] Chr17:40481792..40481795 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.250C>T (p.Arg84Ter) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001214267] |
Chr17:42346592 [GRCh38] Chr17:40498610 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1049G>T (p.Arg350Met) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001225168] |
Chr17:42333673 [GRCh38] Chr17:40485691 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.798-3C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001218521] |
Chr17:42334052 [GRCh38] Chr17:40486070 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.581C>T (p.Ser194Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001221973]|not provided [RCV001773499] |
Chr17:42337827 [GRCh38] Chr17:40489845 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.460A>G (p.Arg154Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001242795] |
Chr17:42339322 [GRCh38] Chr17:40491340 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1348C>T (p.Leu450Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001222015] |
Chr17:42326133 [GRCh38] Chr17:40478151 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003770227]|not provided [RCV001200220]|not specified [RCV001526946] |
Chr17:42322443 [GRCh38] Chr17:40474461 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1749-4C>A |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV004785983] |
Chr17:42323147 [GRCh38] Chr17:40475165 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1110-1G>A |
single nucleotide variant |
not provided [RCV000996547] |
Chr17:42329777 [GRCh38] Chr17:40481795 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.*1891C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001125280] |
Chr17:42313854 [GRCh38] Chr17:40465872 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.2(STAT3):c.-226C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122680] |
Chr17:42388481 [GRCh38] Chr17:40540499 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1064T>G (p.Phe355Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001201610] |
Chr17:42331517 [GRCh38] Chr17:40483535 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1840A>C (p.Ser614Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003771696]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005014587]|not specified [RCV001553661] |
Chr17:42323052 [GRCh38] Chr17:40475070 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1309C>T (p.His437Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004813460] |
Chr17:42326172 [GRCh38] Chr17:40478190 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1282-253C>T |
single nucleotide variant |
not provided [RCV001652871] |
Chr17:42326452 [GRCh38] Chr17:40478470 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1281+33del |
deletion |
not provided [RCV001680870] |
Chr17:42329377 [GRCh38] Chr17:40481395 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1600+162G>A |
single nucleotide variant |
not provided [RCV001717182] |
Chr17:42324549 [GRCh38] Chr17:40476567 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1699A>G (p.Asn567Asp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001594427] |
Chr17:42323309 [GRCh38] Chr17:40475327 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.274-153G>A |
single nucleotide variant |
not provided [RCV001716116] |
Chr17:42345810 [GRCh38] Chr17:40497828 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1600+191G>A |
single nucleotide variant |
not provided [RCV001656326] |
Chr17:42324520 [GRCh38] Chr17:40476538 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.274-234_274-232dup |
duplication |
not provided [RCV001714616] |
Chr17:42345875..42345876 [GRCh38] Chr17:40497893..40497894 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1281+258T>A |
single nucleotide variant |
not provided [RCV001639937] |
Chr17:42329152 [GRCh38] Chr17:40481170 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.551-84C>A |
single nucleotide variant |
not provided [RCV001571621] |
Chr17:42337941 [GRCh38] Chr17:40489959 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2102-79G>A |
single nucleotide variant |
not provided [RCV001587827] |
Chr17:42317303 [GRCh38] Chr17:40469321 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-128C>G |
single nucleotide variant |
not provided [RCV001592597] |
Chr17:42345785 [GRCh38] Chr17:40497803 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.372+147dup |
duplication |
not provided [RCV001647672] |
Chr17:42345403..42345404 [GRCh38] Chr17:40497421..40497422 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2049C>T (p.Phe683=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000896482]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003224488] |
Chr17:42322334 [GRCh38] Chr17:40474352 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.627G>C (p.Ala209=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001416250] |
Chr17:42337781 [GRCh38] Chr17:40489799 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1878G>A (p.Lys626=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000931116] |
Chr17:42323014 [GRCh38] Chr17:40475032 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.879C>T (p.Tyr293=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001479199] |
Chr17:42333968 [GRCh38] Chr17:40485986 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.426G>A (p.Gln142=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000910881] |
Chr17:42339356 [GRCh38] Chr17:40491374 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.300G>A (p.Glu100=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001438197] |
Chr17:42345631 [GRCh38] Chr17:40497649 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.804G>A (p.Thr268=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000917010]|STAT3-related disorder [RCV003895569] |
Chr17:42334043 [GRCh38] Chr17:40486061 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-4G>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001239149] |
Chr17:42337861 [GRCh38] Chr17:40489879 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.468+3G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001242985] |
Chr17:42339311 [GRCh38] Chr17:40491329 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1970A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122496] |
Chr17:42313775 [GRCh38] Chr17:40465793 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*594G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122588] |
Chr17:42315151 [GRCh38] Chr17:40467169 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1011A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001128304] |
Chr17:42314734 [GRCh38] Chr17:40466752 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1963A>T (p.Met655Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001123670] |
Chr17:42322420 [GRCh38] Chr17:40474438 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.368C>T (p.Ala123Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005213500]|not specified [RCV001193228] |
Chr17:42345563 [GRCh38] Chr17:40497581 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.375A>G (p.Gln125=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001047868] |
Chr17:42339407 [GRCh38] Chr17:40491425 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.365C>T (p.Ala122Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001048762] |
Chr17:42345566 [GRCh38] Chr17:40497584 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1981G>T (p.Asp661Tyr) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004559917]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002560162]|not specified [RCV001193229] |
Chr17:42322402 [GRCh38] Chr17:40474420 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.646-7C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003768808] |
Chr17:42337593 [GRCh38] Chr17:40489611 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1916C>T (p.Pro639Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004813346] |
Chr17:42322467 [GRCh38] Chr17:40474485 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.2104G>A (p.Ala702Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000934028] |
Chr17:42317222 [GRCh38] Chr17:40469240 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.414G>A (p.Thr138=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV000912597] |
Chr17:42339368 [GRCh38] Chr17:40491386 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.309G>C (p.Arg103=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001431856]|not provided [RCV004704274] |
Chr17:42345622 [GRCh38] Chr17:40497640 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-165C>T |
single nucleotide variant |
not provided [RCV001594613] |
Chr17:42345822 [GRCh38] Chr17:40497840 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.128+64T>C |
single nucleotide variant |
not provided [RCV001577067] |
Chr17:42348325 [GRCh38] Chr17:40500343 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1177G>T (p.Val393Leu) |
single nucleotide variant |
not provided [RCV001532352] |
Chr17:42329610 [GRCh38] Chr17:40481628 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.919dup (p.Glu307fs) |
duplication |
not provided [RCV003231913] |
Chr17:42333927..42333928 [GRCh38] Chr17:40485945..40485946 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.273+22A>G |
single nucleotide variant |
not provided [RCV001559806] |
Chr17:42346547 [GRCh38] Chr17:40498565 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-234dup |
duplication |
not provided [RCV001676160] |
Chr17:42345875..42345876 [GRCh38] Chr17:40497893..40497894 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.952A>G (p.Lys318Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002571439]|not provided [RCV002469904] |
Chr17:42333895 [GRCh38] Chr17:40485913 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.468+42dup |
duplication |
not provided [RCV001656136] |
Chr17:42339255..42339256 [GRCh38] Chr17:40491273..40491274 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.551-84_551-25del |
deletion |
not provided [RCV001561429] |
Chr17:42337882..42337941 [GRCh38] Chr17:40489900..40489959 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.273+314A>G |
single nucleotide variant |
not provided [RCV001619171] |
Chr17:42346255 [GRCh38] Chr17:40498273 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.274-160G>C |
single nucleotide variant |
not provided [RCV001638755] |
Chr17:42345817 [GRCh38] Chr17:40497835 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1888+205A>G |
single nucleotide variant |
not provided [RCV001536514] |
Chr17:42322799 [GRCh38] Chr17:40474817 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1233+43C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001810145]|STAT3-related early-onset multisystem autoimmune disease [RCV001810146]|not provided [RCV001619009]|not specified [RCV003394172] |
Chr17:42329511 [GRCh38] Chr17:40481529 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.468+58del |
deletion |
not provided [RCV001596078]|not specified [RCV003394158] |
Chr17:42339256 [GRCh38] Chr17:40491274 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.2144+74T>C |
single nucleotide variant |
not provided [RCV001586934] |
Chr17:42317108 [GRCh38] Chr17:40469126 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1282-162T>A |
single nucleotide variant |
not provided [RCV001658518] |
Chr17:42326361 [GRCh38] Chr17:40478379 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1109+24G>T |
single nucleotide variant |
not provided [RCV001718519] |
Chr17:42331448 [GRCh38] Chr17:40483466 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1464+35A>T |
single nucleotide variant |
not provided [RCV001718520] |
Chr17:42324928 [GRCh38] Chr17:40476946 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1282-21G>A |
single nucleotide variant |
not provided [RCV001614764] |
Chr17:42326220 [GRCh38] Chr17:40478238 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.273+145T>C |
single nucleotide variant |
not provided [RCV001591564] |
Chr17:42346424 [GRCh38] Chr17:40498442 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.645+15C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001128400]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002556809] |
Chr17:42337748 [GRCh38] Chr17:40489766 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.-139G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001128404] |
Chr17:42388394 [GRCh38] Chr17:40540412 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1645C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001126253] |
Chr17:42314100 [GRCh38] Chr17:40466118 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1428C>T (p.Ser476=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001126348]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005225238] |
Chr17:42324999 [GRCh38] Chr17:40477017 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_139276.3(STAT3):c.2119A>G (p.Lys707Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003768924]|Inherited Immunodeficiency Diseases [RCV001027633] |
Chr17:42317207 [GRCh38] Chr17:40469225 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.870A>T (p.Lys290Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002552008]|Inherited Immunodeficiency Diseases [RCV001027634] |
Chr17:42333977 [GRCh38] Chr17:40485995 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1234A>G (p.Thr412Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001047258] |
Chr17:42329457 [GRCh38] Chr17:40481475 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*607C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122587] |
Chr17:42315138 [GRCh38] Chr17:40467156 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.-157A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122678] |
Chr17:42388412 [GRCh38] Chr17:40540430 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*165T>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001123668] |
Chr17:42315580 [GRCh38] Chr17:40467598 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*1082G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001128303] |
Chr17:42314663 [GRCh38] Chr17:40466681 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.2(STAT3):c.-211G>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122679] |
Chr17:42388466 [GRCh38] Chr17:40540484 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2144+1G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001866130]|not provided [RCV001586588] |
Chr17:42317181 [GRCh38] Chr17:40469199 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.645+40C>G |
single nucleotide variant |
not provided [RCV001647744] |
Chr17:42337723 [GRCh38] Chr17:40489741 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1109+13A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001126349]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002070066] |
Chr17:42331459 [GRCh38] Chr17:40483477 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1050G>A (p.Arg350=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001126350]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001223175] |
Chr17:42331531 [GRCh38] Chr17:40483549 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1969_1971dup (p.Tyr657dup) |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001234435] |
Chr17:42322411..42322412 [GRCh38] Chr17:40474429..40474430 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1982A>T (p.Asp661Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001234436] |
Chr17:42322401 [GRCh38] Chr17:40474419 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2113T>C (p.Tyr705His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001217584] |
Chr17:42317213 [GRCh38] Chr17:40469231 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1165A>G (p.Thr389Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001220202]|not provided [RCV001566818] |
Chr17:42329622 [GRCh38] Chr17:40481640 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1241G>C (p.Arg414Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001218921] |
Chr17:42329450 [GRCh38] Chr17:40481468 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.986T>G (p.Met329Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002552425]|Inherited Immunodeficiency Diseases [RCV001027631]|STAT3-related early-onset multisystem autoimmune disease [RCV001805975] |
Chr17:42333736 [GRCh38] Chr17:40485754 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.874T>A (p.Ser292Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001212461] |
Chr17:42333973 [GRCh38] Chr17:40485991 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2050G>C (p.Gly684Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001057008]|not specified [RCV003230627] |
Chr17:42322333 [GRCh38] Chr17:42322333..42322334 [GRCh38] Chr17:40474351 [GRCh37] Chr17:40474351..40474352 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1123G>A (p.Val375Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002559276]|not provided [RCV001200221] |
Chr17:42329763 [GRCh38] Chr17:40481781 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_139276.3(STAT3):c.626C>T (p.Ala209Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001058346] |
Chr17:42337782 [GRCh38] Chr17:40489800 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.785G>A (p.Arg262Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001058775]|not provided [RCV003480938] |
Chr17:42337447 [GRCh38] Chr17:40489465 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.2(STAT3):c.1111_1112del |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001236272] |
Chr17:42329774..42329775 [GRCh38] Chr17:40481792..40481793 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*608A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122586] |
Chr17:42315137 [GRCh38] Chr17:40467155 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1233+19C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002071847]|STAT3-related early-onset multisystem autoimmune disease [RCV001196075] |
Chr17:42329535 [GRCh38] Chr17:40481553 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_139276.3(STAT3):c.776G>A (p.Cys259Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001040165] |
Chr17:42337456 [GRCh38] Chr17:40489474 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.812C>T (p.Ala271Val) |
single nucleotide variant |
Inherited Immunodeficiency Diseases [RCV001027629] |
Chr17:42334035 [GRCh38] Chr17:40486053 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.311T>C (p.Ile104Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001128401] |
Chr17:42345620 [GRCh38] Chr17:40497638 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.249A>G (p.Leu83=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001128402] |
Chr17:42346593 [GRCh38] Chr17:40498611 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.-69C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001128403] |
Chr17:42388324 [GRCh38] Chr17:40540342 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*31C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001123669] |
Chr17:42315714 [GRCh38] Chr17:40467732 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1802A>C (p.Lys601Thr) |
single nucleotide variant |
not provided [RCV001090843] |
Chr17:42323090 [GRCh38] Chr17:40475108 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.*402G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001122589] |
Chr17:42315343 [GRCh38] Chr17:40467361 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1974G>T (p.Lys658Asn) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV001254616] |
Chr17:42322409 [GRCh38] Chr17:40474427 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1310A>T (p.His437Leu) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV001253455] |
Chr17:42326171 [GRCh38] Chr17:40478189 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.2257+318C>T |
single nucleotide variant |
not provided [RCV001641842] |
Chr17:42316471 [GRCh38] Chr17:40468489 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.406G>T (p.Val136Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001348486] |
Chr17:42339376 [GRCh38] Chr17:40491394 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1973A>G (p.Lys658Arg) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV001267795] |
Chr17:42322410 [GRCh38] Chr17:40474428 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1282-93C>T |
single nucleotide variant |
not provided [RCV001641730] |
Chr17:42326292 [GRCh38] Chr17:40478310 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2141C>T (p.Thr714Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001302950] |
Chr17:42317185 [GRCh38] Chr17:40469203 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1264G>A (p.Gly422Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001324610] |
Chr17:42329427 [GRCh38] Chr17:40481445 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1129G>A (p.Ala377Thr) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV001328610] |
Chr17:42329757 [GRCh38] Chr17:40481775 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1120G>T (p.Asp374Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001370116] |
Chr17:42329766 [GRCh38] Chr17:40481784 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.681G>A (p.Ala227=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001413984] |
Chr17:42337551 [GRCh38] Chr17:40489569 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[2] |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001422459]|not provided [RCV001581124] |
Chr17:42337875..42337894 [GRCh38] Chr17:40489893..40489912 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.327G>A (p.Leu109=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001433793] |
Chr17:42345604 [GRCh38] Chr17:40497622 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1084C>T (p.Leu362Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001345067] |
Chr17:42331497 [GRCh38] Chr17:40483515 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1757T>C (p.Met586Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001320728]|not provided [RCV001760404] |
Chr17:42323135 [GRCh38] Chr17:40475153 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2271T>G (p.Phe757Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001363659] |
Chr17:42315787 [GRCh38] Chr17:40467805 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1925AGC[2] (p.Gln644del) |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001337284] |
Chr17:42322450..42322452 [GRCh38] Chr17:40474468..40474470 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1228C>T (p.His410Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001343329] |
Chr17:42329559 [GRCh38] Chr17:40481577 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.2138T>C (p.Val713Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001373363] |
Chr17:42317188 [GRCh38] Chr17:40469206 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1110-10_1110-9del |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001340006] |
Chr17:42329785..42329786 [GRCh38] Chr17:40481803..40481804 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.2303C>T (p.Ser768Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001350424] |
Chr17:42315755 [GRCh38] Chr17:40467773 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.377G>A (p.Gly126Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001350580] |
Chr17:42339405 [GRCh38] Chr17:40491423 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1827A>T (p.Arg609Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001367049] |
Chr17:42323065 [GRCh38] Chr17:40475083 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1066C>A (p.Pro356Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001338602] |
Chr17:42331515 [GRCh38] Chr17:40483533 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.195C>A (p.Asp65Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001365625] |
Chr17:42346647 [GRCh38] Chr17:40498665 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2298T>C (p.Ala766=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001494117] |
Chr17:42315760 [GRCh38] Chr17:40467778 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-137_551-18del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001513641] |
Chr17:42337875..42337994 [GRCh38] Chr17:40489893..40490012 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1122C>T (p.Asp374=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001481573] |
Chr17:42329764 [GRCh38] Chr17:40481782 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1917A>G (p.Pro639=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001502923] |
Chr17:42322466 [GRCh38] Chr17:40474484 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.366G>A (p.Ala122=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001417593] |
Chr17:42345565 [GRCh38] Chr17:40497583 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.513C>T (p.Asp171=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001520800] |
Chr17:42338768 [GRCh38] Chr17:40490786 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.129-13T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001415624] |
Chr17:42346726 [GRCh38] Chr17:40498744 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.708G>C (p.Thr236=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001474488] |
Chr17:42337524 [GRCh38] Chr17:40489542 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1377G>A (p.Leu459=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001501261] |
Chr17:42325050 [GRCh38] Chr17:40477068 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2064G>A (p.Arg688=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001477559] |
Chr17:42322319 [GRCh38] Chr17:40474337 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1749-12C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001403166] |
Chr17:42323155 [GRCh38] Chr17:40475173 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1182G>A (p.Met394Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001378195] |
Chr17:42329605 [GRCh38] Chr17:40481623 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1859C>G (p.Thr620Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001380075] |
Chr17:42323033 [GRCh38] Chr17:40475051 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.2145-5dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001457468] |
Chr17:42316905..42316906 [GRCh38] Chr17:40468923..40468924 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1888+7G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001494488] |
Chr17:42322997 [GRCh38] Chr17:40475015 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2257+31A>G |
single nucleotide variant |
not provided [RCV001588462] |
Chr17:42316758 [GRCh38] Chr17:40468776 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.128+20C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001479542] |
Chr17:42348369 [GRCh38] Chr17:40500387 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-234_274-233dup |
duplication |
not provided [RCV001675569] |
Chr17:42345875..42345876 [GRCh38] Chr17:40497893..40497894 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1229A>G (p.His410Arg) |
single nucleotide variant |
not specified [RCV001527066] |
Chr17:42329558 [GRCh38] Chr17:40481576 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.537C>T (p.Leu179=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001465788] |
Chr17:42338744 [GRCh38] Chr17:40490762 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-164C>G |
single nucleotide variant |
not provided [RCV001716114] |
Chr17:42345821 [GRCh38] Chr17:40497839 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.797+156C>A |
single nucleotide variant |
not provided [RCV001536265] |
Chr17:42337279 [GRCh38] Chr17:40489297 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.990C>T (p.Pro330=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001476734] |
Chr17:42333732 [GRCh38] Chr17:40485750 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1601-8_1601-7insG |
insertion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001497565]|not provided [RCV003738081] |
Chr17:42323632..42323633 [GRCh38] Chr17:40475650..40475651 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.27G>A (p.Gln9=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001453070] |
Chr17:42348490 [GRCh38] Chr17:40500508 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.303T>C (p.Ile101=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001459873] |
Chr17:42345628 [GRCh38] Chr17:40497646 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1230C>T (p.His410=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001455988] |
Chr17:42329557 [GRCh38] Chr17:40481575 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1743C>T (p.Asn581=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001522883]|not provided [RCV003416384] |
Chr17:42323265 [GRCh38] Chr17:40475283 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.247C>T (p.Leu83=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001452788] |
Chr17:42346595 [GRCh38] Chr17:40498613 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.312T>C (p.Ile104=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001490317] |
Chr17:42345619 [GRCh38] Chr17:40497637 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.51G>A (p.Gln17=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001468563] |
Chr17:42348466 [GRCh38] Chr17:40500484 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1110-6T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001429053] |
Chr17:42329782 [GRCh38] Chr17:40481800 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.129-4C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001440977] |
Chr17:42346717 [GRCh38] Chr17:40498735 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1924A>G (p.Lys642Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001378695] |
Chr17:42322459 [GRCh38] Chr17:40474477 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1366-4G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001404647]|STAT3-related disorder [RCV003938685] |
Chr17:42325065 [GRCh38] Chr17:40477083 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1049+452C>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001515425] |
Chr17:42333221 [GRCh38] Chr17:42333221..42333222 [GRCh38] Chr17:40485239 [GRCh37] Chr17:40485239..40485240 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.627G>A (p.Ala209=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001393703] |
Chr17:42337781 [GRCh38] Chr17:40489799 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1059C>T (p.Val353=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001426361]|STAT3-related disorder [RCV003900466] |
Chr17:42331522 [GRCh38] Chr17:40483540 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.651C>T (p.Ile217=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001437355] |
Chr17:42337581 [GRCh38] Chr17:40489599 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1365+8C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001420106] |
Chr17:42326108 [GRCh38] Chr17:40478126 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1234-7C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001455172] |
Chr17:42329464 [GRCh38] Chr17:40481482 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.708G>A (p.Thr236=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003108549] |
Chr17:42337524 [GRCh38] Chr17:40489542 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1365+143_1365+146del |
deletion |
not provided [RCV001732261]|not specified [RCV001732262] |
Chr17:42325970..42325973 [GRCh38] Chr17:40477988..40477991 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.82A>G (p.Met28Val) |
single nucleotide variant |
STAT3-related disorder [RCV004545829]|not provided [RCV001772469] |
Chr17:42348435 [GRCh38] Chr17:40500453 [GRCh37] Chr17:17q21.2 |
likely pathogenic|uncertain significance |
NM_139276.3(STAT3):c.1303G>A (p.Glu435Lys) |
single nucleotide variant |
not provided [RCV001766901] |
Chr17:42326178 [GRCh38] Chr17:40478196 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.605A>G (p.Gln202Arg) |
single nucleotide variant |
not provided [RCV001765422] |
Chr17:42337803 [GRCh38] Chr17:40489821 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2248G>C (p.Gly750Arg) |
single nucleotide variant |
not provided [RCV001763180] |
Chr17:42316798 [GRCh38] Chr17:40468816 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1361T>C (p.Leu454Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003772187]|not provided [RCV001795750] |
Chr17:42326120 [GRCh38] Chr17:40478138 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1847A>G (p.Glu616Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001795826] |
Chr17:42323045 [GRCh38] Chr17:40475063 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1049+9T>G |
single nucleotide variant |
not specified [RCV001806760] |
Chr17:42333664 [GRCh38] Chr17:40485682 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1505_1506del (p.Asp502fs) |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001864111] |
Chr17:42324805..42324806 [GRCh38] Chr17:40476823..40476824 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.308G>A (p.Arg103Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001875022] |
Chr17:42345623 [GRCh38] Chr17:40497641 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.308G>T (p.Arg103Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002006308] |
Chr17:42345623 [GRCh38] Chr17:40497641 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1250G>T (p.Arg417Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001825274] |
Chr17:42329441 [GRCh38] Chr17:40481459 [GRCh37] Chr17:17q21.2 |
not provided |
NM_139276.3(STAT3):c.1915C>G (p.Pro639Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001950022] |
Chr17:42322468 [GRCh38] Chr17:40474486 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1600+4C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001929538] |
Chr17:42324707 [GRCh38] Chr17:40476725 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.908C>T (p.Pro303Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001947531] |
Chr17:42333939 [GRCh38] Chr17:40485957 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1139+3A>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002042820] |
Chr17:42329744 [GRCh38] Chr17:40481762 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1110-2A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001912793] |
Chr17:42329778 [GRCh38] Chr17:40481796 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.645+6G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002023254] |
Chr17:42337757 [GRCh38] Chr17:40489775 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2123C>G (p.Thr708Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001823640] |
Chr17:42317203 [GRCh38] Chr17:40469221 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.2277G>A (p.Met759Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002042461] |
Chr17:42315781 [GRCh38] Chr17:40467799 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1442A>G (p.Asn481Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001946260]|STAT3-related disorder [RCV004754812] |
Chr17:42324985 [GRCh38] Chr17:40477003 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.341G>A (p.Arg114His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002022610] |
Chr17:42345590 [GRCh38] Chr17:40497608 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2116C>A (p.Leu706Met) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001967161] |
Chr17:42317210 [GRCh38] Chr17:40469228 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.356C>T (p.Ala119Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002006453] |
Chr17:42345575 [GRCh38] Chr17:40497593 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1588G>A (p.Glu530Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002043719] |
Chr17:42324723 [GRCh38] Chr17:40476741 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1139+2dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001872695] |
Chr17:42329744..42329745 [GRCh38] Chr17:40481762..40481763 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.645+16G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002041094] |
Chr17:42337747 [GRCh38] Chr17:40489765 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.927C>T (p.Ile309=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001970044] |
Chr17:42333920 [GRCh38] Chr17:40485938 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.209G>A (p.Arg70His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001910614] |
Chr17:42346633 [GRCh38] Chr17:40498651 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1424C>T (p.Ala475Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001872781] |
Chr17:42325003 [GRCh38] Chr17:40477021 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.861G>T (p.Leu287Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001995210] |
Chr17:42333986 [GRCh38] Chr17:40486004 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.508G>T (p.Asp170Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001944489] |
Chr17:42338773 [GRCh38] Chr17:40490791 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001888122] |
Chr17:42337767 [GRCh38] Chr17:40489785 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1887C>T (p.Ser629=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001962667]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005016895] |
Chr17:42323005 [GRCh38] Chr17:40475023 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1012G>A (p.Val338Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001887102]|Inborn genetic diseases [RCV002554134] |
Chr17:42333710 [GRCh38] Chr17:40485728 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.508G>A (p.Asp170Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002013278] |
Chr17:42338773 [GRCh38] Chr17:40490791 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.594G>C (p.Gln198His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001972167] |
Chr17:42337814 [GRCh38] Chr17:40489832 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1749-3C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002027672] |
Chr17:42323146 [GRCh38] Chr17:40475164 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.340C>T (p.Arg114Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001953167] |
Chr17:42345591 [GRCh38] Chr17:40497609 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.551-1G>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002046988]|STAT3-related early-onset multisystem autoimmune disease [RCV003314023] |
Chr17:42337858 [GRCh38] Chr17:40489876 [GRCh37] Chr17:17q21.2 |
pathogenic|uncertain significance |
NM_139276.3(STAT3):c.319C>T (p.Arg107Trp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001881474] |
Chr17:42345612 [GRCh38] Chr17:40497630 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2309T>C (p.Met770Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002017216]|not provided [RCV004779245] |
Chr17:42315749 [GRCh38] Chr17:40467767 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1687G>A (p.Val563Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002027563] |
Chr17:42323321 [GRCh38] Chr17:40475339 [GRCh37] Chr17:17q21.2 |
benign|uncertain significance |
NM_139276.3(STAT3):c.2308A>G (p.Met770Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001867809]|Inborn genetic diseases [RCV004040461] |
Chr17:42315750 [GRCh38] Chr17:40467768 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.746T>C (p.Ile249Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV001864854] |
Chr17:42337486 [GRCh38] Chr17:40489504 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1009C>G (p.Leu337Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002015310] |
Chr17:42333713 [GRCh38] Chr17:40485731 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.880A>G (p.Lys294Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002010737] |
Chr17:42333967 [GRCh38] Chr17:40485985 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1653+14T>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002165315] |
Chr17:42323559 [GRCh38] Chr17:40475577 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2289G>A (p.Ser763=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002084640] |
Chr17:42315769 [GRCh38] Chr17:40467787 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.645+8C>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002084850] |
Chr17:42337755 [GRCh38] Chr17:40489773 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1139+18G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002186883] |
Chr17:42329729 [GRCh38] Chr17:40481747 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1206C>A (p.Gly402=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002207999] |
Chr17:42329581 [GRCh38] Chr17:40481599 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2163C>G (p.Thr721=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002187923] |
Chr17:42316883 [GRCh38] Chr17:40468901 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2033C>A (p.Pro678His) |
single nucleotide variant |
not provided [RCV002224676] |
Chr17:42322350 [GRCh38] Chr17:40474368 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.128+17T>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002189901] |
Chr17:42348372 [GRCh38] Chr17:40500390 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1368C>T (p.Thr456=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002191887] |
Chr17:42325059 [GRCh38] Chr17:40477077 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.956+10C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002128917] |
Chr17:42333881 [GRCh38] Chr17:40485899 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.9A>G (p.Gln3=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002205873]|not provided [RCV003883759] |
Chr17:42348508 [GRCh38] Chr17:40500526 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-4A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002088757] |
Chr17:42345661 [GRCh38] Chr17:40497679 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2145-14_2145-12del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002165372] |
Chr17:42316913..42316915 [GRCh38] Chr17:40468931..40468933 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1110-19_1110-17del |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002105401] |
Chr17:42329793..42329795 [GRCh38] Chr17:40481811..40481813 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1465-10T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002149786] |
Chr17:42324856 [GRCh38] Chr17:40476874 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1641T>C (p.Ala547=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002196700] |
Chr17:42323585 [GRCh38] Chr17:40475603 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1281+10G>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002170672] |
Chr17:42329400 [GRCh38] Chr17:40481418 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1282-11C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002151516] |
Chr17:42326210 [GRCh38] Chr17:40478228 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2307C>G (p.Pro769=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002174442] |
Chr17:42315751 [GRCh38] Chr17:40467769 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-11C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002214997]|not specified [RCV004690239] |
Chr17:42345668 [GRCh38] Chr17:40497686 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.1425G>A (p.Ala475=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002215902] |
Chr17:42325002 [GRCh38] Chr17:40477020 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1465-16G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002092912]|not specified [RCV003155464] |
Chr17:42324862 [GRCh38] Chr17:40476880 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2258-14G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002080825] |
Chr17:42315814 [GRCh38] Chr17:40467832 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.528T>C (p.Tyr176=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002216071] |
Chr17:42338753 [GRCh38] Chr17:40490771 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.834T>C (p.Arg278=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002144698] |
Chr17:42334013 [GRCh38] Chr17:40486031 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-77ATTCCCTCAGGTCAAGGAGT[4] |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002115706] |
Chr17:42337874..42337875 [GRCh38] Chr17:40489892..40489893 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1710C>T (p.Asp570=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002195752] |
Chr17:42323298 [GRCh38] Chr17:40475316 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.585G>A (p.Val195=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002153271] |
Chr17:42337823 [GRCh38] Chr17:40489841 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1281+13G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002170996] |
Chr17:42329397 [GRCh38] Chr17:40481415 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1601-18T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002114358] |
Chr17:42323643 [GRCh38] Chr17:40475661 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1140-16T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002201267] |
Chr17:42329663 [GRCh38] Chr17:40481681 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1395C>T (p.Ser465=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002118389] |
Chr17:42325032 [GRCh38] Chr17:40477050 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1849G>A (p.Gly617Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003089154]|not specified [RCV002223032] |
Chr17:42323043 [GRCh38] Chr17:40475061 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.621C>T (p.Leu207=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002120779] |
Chr17:42337787 [GRCh38] Chr17:40489805 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.957-14T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002178860] |
Chr17:42333779 [GRCh38] Chr17:40485797 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1968C>T (p.Gly656=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002179212] |
Chr17:42322415 [GRCh38] Chr17:40474433 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.960C>T (p.Ala320=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002138361] |
Chr17:42333762 [GRCh38] Chr17:40485780 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.373-17G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002102968] |
Chr17:42339426 [GRCh38] Chr17:40491444 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2144+46_2144+47del |
deletion |
not specified [RCV002223065] |
Chr17:42317135..42317136 [GRCh38] Chr17:40469153..40469154 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.558A>G (p.Gln186=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002218330] |
Chr17:42337850 [GRCh38] Chr17:40489868 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1465-14G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002102593] |
Chr17:42324860 [GRCh38] Chr17:40476878 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2200T>C (p.Leu734=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002181248]|STAT3-related disorder [RCV003418404] |
Chr17:42316846 [GRCh38] Chr17:40468864 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1601-12T>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002204208] |
Chr17:42323637 [GRCh38] Chr17:40475655 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.469-19del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002118903] |
Chr17:42338831 [GRCh38] Chr17:40490849 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1110-14C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002099404] |
Chr17:42329790 [GRCh38] Chr17:40481808 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2144+7G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002143755] |
Chr17:42317175 [GRCh38] Chr17:40469193 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1889-12G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002158030] |
Chr17:42322506 [GRCh38] Chr17:40474524 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1920C>T (p.Tyr640=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002103350] |
Chr17:42322463 [GRCh38] Chr17:40474481 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.981C>G (p.Pro327=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002084213] |
Chr17:42333741 [GRCh38] Chr17:40485759 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1566C>T (p.Ile522=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002140005] |
Chr17:42324745 [GRCh38] Chr17:40476763 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.348A>G (p.Leu116=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002100967]|STAT3-related disorder [RCV003893287] |
Chr17:42345583 [GRCh38] Chr17:40497601 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1047C>T (p.Val349=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002200981] |
Chr17:42333675 [GRCh38] Chr17:40485693 [GRCh37] Chr17:17q21.2 |
likely benign |
NC_000017.10:g.(?_40376777)_(40575115_?)dup |
duplication |
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive [RCV003116609]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003116610] |
Chr17:40376777..40575115 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40467763)_(40467838_?)del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003123117] |
Chr17:40467763..40467838 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40481408)_(40491447_?)dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003123118] |
Chr17:40481408..40491447 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1940_1941delinsTT (p.Asn647Ile) |
indel |
not specified [RCV003123547] |
Chr17:42322442..42322443 [GRCh38] Chr17:40474460..40474461 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1339C>G (p.His447Asp) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV003992757]|not provided [RCV003229963] |
Chr17:42326142 [GRCh38] Chr17:40478160 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.587C>A (p.Thr196Asn) |
single nucleotide variant |
not provided [RCV003230219] |
Chr17:42337821 [GRCh38] Chr17:40489839 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.994C>T (p.His332Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003096208]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003339948]|not provided [RCV002276048] |
Chr17:42333728 [GRCh38] Chr17:40485746 [GRCh37] Chr17:17q21.2 |
pathogenic|likely pathogenic |
NM_139276.3(STAT3):c.-23-1G>T |
single nucleotide variant |
not provided [RCV002293662] |
Chr17:42348540 [GRCh38] Chr17:40500558 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1910T>C (p.Val637Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002284058] |
Chr17:42322473 [GRCh38] Chr17:40474491 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.*123dup |
duplication |
not specified [RCV002282948] |
Chr17:42315621..42315622 [GRCh38] Chr17:40467639..40467640 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.985A>G (p.Met329Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002469940] |
Chr17:42333737 [GRCh38] Chr17:40485755 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1858A>G (p.Thr620Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002469941] |
Chr17:42323034 [GRCh38] Chr17:40475052 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1004G>A (p.Arg335Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003150889]|STAT3-related early-onset multisystem autoimmune disease [RCV003150890] |
Chr17:42333718 [GRCh38] Chr17:40485736 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.469G>A (p.Asp157Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002301443] |
Chr17:42338812 [GRCh38] Chr17:40490830 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.656G>C (p.Ser219Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002297861] |
Chr17:42337576 [GRCh38] Chr17:40489594 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1966G>C (p.Gly656Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002300425] |
Chr17:42322417 [GRCh38] Chr17:40474435 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1241G>A (p.Arg414Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002300050] |
Chr17:42329450 [GRCh38] Chr17:40481468 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1943T>C (p.Met648Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002299189] |
Chr17:42322440 [GRCh38] Chr17:40474458 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1955A>G (p.Glu652Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002302203] |
Chr17:42322428 [GRCh38] Chr17:40474446 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.586_590dup (p.Gln198fs) |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002972107] |
Chr17:42337817..42337818 [GRCh38] Chr17:40489835..40489836 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1773G>T (p.Lys591Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002880938] |
Chr17:42323119 [GRCh38] Chr17:40475137 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2294G>A (p.Cys765Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003033448] |
Chr17:42315764 [GRCh38] Chr17:40467782 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.849A>T (p.Lys283Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003033486] |
Chr17:42333998 [GRCh38] Chr17:40486016 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.988C>T (p.Pro330Ser) |
single nucleotide variant |
not provided [RCV002461710] |
Chr17:42333734 [GRCh38] Chr17:40485752 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.686A>G (p.Glu229Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002685680]|not provided [RCV003883835] |
Chr17:42337546 [GRCh38] Chr17:40489564 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1262G>A (p.Gly421Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002975063] |
Chr17:42329429 [GRCh38] Chr17:40481447 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.2145-12dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002908526] |
Chr17:42316912..42316913 [GRCh38] Chr17:40468930..40468931 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2153G>A (p.Cys718Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002995267]|STAT3-related disorder [RCV003395556] |
Chr17:42316893 [GRCh38] Chr17:40468911 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1050-19A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002756625] |
Chr17:42331550 [GRCh38] Chr17:40483568 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.420G>T (p.Lys140Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002843737] |
Chr17:42339362 [GRCh38] Chr17:40491380 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1135A>C (p.Arg379=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002866000] |
Chr17:42329751 [GRCh38] Chr17:40481769 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.810A>G (p.Leu270=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002750648] |
Chr17:42334037 [GRCh38] Chr17:40486055 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.652G>C (p.Val218Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002837508] |
Chr17:42337580 [GRCh38] Chr17:40489598 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.649A>T (p.Ile217Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002903494] |
Chr17:42337583 [GRCh38] Chr17:40489601 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1234-5T>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002686334] |
Chr17:42329462 [GRCh38] Chr17:40481480 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1299T>C (p.Thr433=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002882314] |
Chr17:42326182 [GRCh38] Chr17:40478200 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.372+15A>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002995891] |
Chr17:42345544 [GRCh38] Chr17:40497562 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1889-16C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002907621] |
Chr17:42322510 [GRCh38] Chr17:40474528 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1945T>C (p.Ser649Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002949377] |
Chr17:42322438 [GRCh38] Chr17:40474456 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2258-6_2258-3del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003039241] |
Chr17:42315803..42315806 [GRCh38] Chr17:40467821..40467824 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1464+18T>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002885342] |
Chr17:42324945 [GRCh38] Chr17:40476963 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1169A>T (p.Asn390Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003018031] |
Chr17:42329618 [GRCh38] Chr17:40481636 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.469-10_469-6del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003018924] |
Chr17:42338818..42338822 [GRCh38] Chr17:40490836..40490840 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2005C>T (p.Pro669Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003053895] |
Chr17:42322378 [GRCh38] Chr17:40474396 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1234-9T>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002820486] |
Chr17:42329466 [GRCh38] Chr17:40481484 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.373-14C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002795230] |
Chr17:42339423 [GRCh38] Chr17:40491441 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1145G>C (p.Arg382Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003021538] |
Chr17:42329642 [GRCh38] Chr17:40481660 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.383A>C (p.Gln128Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002948977] |
Chr17:42339399 [GRCh38] Chr17:40491417 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.912G>A (p.Met304Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002824559] |
Chr17:42333935 [GRCh38] Chr17:40485953 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.798-20C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002796997] |
Chr17:42334069 [GRCh38] Chr17:40486087 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1754T>C (p.Ile585Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002909487] |
Chr17:42323138 [GRCh38] Chr17:40475156 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1464+14C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002780587] |
Chr17:42324949 [GRCh38] Chr17:40476967 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1749-15C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002848249] |
Chr17:42323158 [GRCh38] Chr17:40475176 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003080420] |
Chr17:42339382 [GRCh38] Chr17:40491400 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1812C>T (p.Gly604=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002998961] |
Chr17:42323080 [GRCh38] Chr17:40475098 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1601-7C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002999796] |
Chr17:42323632 [GRCh38] Chr17:40475650 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2094C>T (p.Asp698=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002909282] |
Chr17:42322289 [GRCh38] Chr17:40474307 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.435G>A (p.Glu145=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002569618] |
Chr17:42339347 [GRCh38] Chr17:40491365 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1653+7A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002592846] |
Chr17:42323566 [GRCh38] Chr17:40475584 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1151_1152insG (p.Phe384fs) |
insertion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002850959] |
Chr17:42329635..42329636 [GRCh38] Chr17:40481653..40481654 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1799C>G (p.Thr600Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003024924] |
Chr17:42323093 [GRCh38] Chr17:40475111 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1903C>T (p.Gln635Ter) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002929091] |
Chr17:42322480 [GRCh38] Chr17:40474498 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1934T>A (p.Leu645Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003084909] |
Chr17:42322449 [GRCh38] Chr17:40474467 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.892dup (p.Ile298fs) |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002933337] |
Chr17:42333954..42333955 [GRCh38] Chr17:40485972..40485973 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1465-8T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003059710] |
Chr17:42324854 [GRCh38] Chr17:40476872 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1234-8T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002575686] |
Chr17:42329465 [GRCh38] Chr17:40481483 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1915C>A (p.Pro639Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003041304] |
Chr17:42322468 [GRCh38] Chr17:40474486 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1909G>T (p.Val637Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003041305] |
Chr17:42322474 [GRCh38] Chr17:40474492 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1233+4T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002765715] |
Chr17:42329550 [GRCh38] Chr17:40481568 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.373-6dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002765740] |
Chr17:42339414..42339415 [GRCh38] Chr17:40491432..40491433 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2258-16_2258-15del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002828898] |
Chr17:42315815..42315816 [GRCh38] Chr17:40467833..40467834 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1797_1799del (p.Thr600del) |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002791209] |
Chr17:42323093..42323095 [GRCh38] Chr17:40475111..40475113 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1889-15C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003042841] |
Chr17:42322509 [GRCh38] Chr17:40474527 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1601-7_1601-6insT |
insertion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003007529] |
Chr17:42323631..42323632 [GRCh38] Chr17:40475649..40475650 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2114A>G (p.Tyr705Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003041301] |
Chr17:42317212 [GRCh38] Chr17:40469230 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.393C>T (p.His131=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002801543] |
Chr17:42339389 [GRCh38] Chr17:40491407 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1673G>A (p.Gly558Asp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002894697] |
Chr17:42323335 [GRCh38] Chr17:40475353 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1233+14G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002919085] |
Chr17:42329540 [GRCh38] Chr17:40481558 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1110-13T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002625612] |
Chr17:42329789 [GRCh38] Chr17:40481807 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2043G>A (p.Glu681=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002829938] |
Chr17:42322340 [GRCh38] Chr17:40474358 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1635A>G (p.Thr545=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002982485] |
Chr17:42323591 [GRCh38] Chr17:40475609 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.468+6G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002643557] |
Chr17:42339308 [GRCh38] Chr17:40491326 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1601-19C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002805247] |
Chr17:42323644 [GRCh38] Chr17:40475662 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1434G>C (p.Leu478=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002875601] |
Chr17:42324993 [GRCh38] Chr17:40477011 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.645+9A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002958255] |
Chr17:42337754 [GRCh38] Chr17:40489772 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2145-17C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002894299] |
Chr17:42316918 [GRCh38] Chr17:40468936 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1654-19C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002914592] |
Chr17:42323373 [GRCh38] Chr17:40475391 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1191A>G (p.Glu397=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002877199] |
Chr17:42329596 [GRCh38] Chr17:40481614 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2101+20C>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002899212] |
Chr17:42322262 [GRCh38] Chr17:40474280 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.571A>C (p.Asn191His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003030044] |
Chr17:42337837 [GRCh38] Chr17:40489855 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1464+11C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002577355] |
Chr17:42324952 [GRCh38] Chr17:40476970 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1225A>T (p.Lys409Ter) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003049272] |
Chr17:42329562 [GRCh38] Chr17:40481580 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1865C>T (p.Thr622Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003064439] |
Chr17:42323027 [GRCh38] Chr17:40475045 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.172C>T (p.His58Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003064441] |
Chr17:42346670 [GRCh38] Chr17:40498688 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.14A>G (p.Asn5Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002628146]|not provided [RCV004790380] |
Chr17:42348503 [GRCh38] Chr17:40500521 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1234-18C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002937452] |
Chr17:42329475 [GRCh38] Chr17:40481493 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-5C>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003009271] |
Chr17:42337862 [GRCh38] Chr17:40489880 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2304C>T (p.Ser768=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002599440] |
Chr17:42315754 [GRCh38] Chr17:40467772 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1490C>T (p.Pro497Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002630231] |
Chr17:42324821 [GRCh38] Chr17:40476839 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.579G>C (p.Gln193His) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002895359] |
Chr17:42337829 [GRCh38] Chr17:40489847 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.799A>G (p.Ile267Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003088175] |
Chr17:42334048 [GRCh38] Chr17:40486066 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.685G>A (p.Glu229Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002922522] |
Chr17:42337547 [GRCh38] Chr17:40489565 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1121A>G (p.Asp374Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003064440] |
Chr17:42329765 [GRCh38] Chr17:40481783 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.129-20A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002811446] |
Chr17:42346733 [GRCh38] Chr17:40498751 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1050-13dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003090070] |
Chr17:42331543..42331544 [GRCh38] Chr17:40483561..40483562 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2211dup (p.Gly738fs) |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002898729] |
Chr17:42316834..42316835 [GRCh38] Chr17:40468852..40468853 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1051T>C (p.Leu351=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003064766] |
Chr17:42331530 [GRCh38] Chr17:40483548 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.363T>A (p.Thr121=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002646072] |
Chr17:42345568 [GRCh38] Chr17:40497586 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.974G>A (p.Arg325Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002632042]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003992676] |
Chr17:42333748 [GRCh38] Chr17:40485766 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.381C>T (p.Gly127=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003060312] |
Chr17:42339401 [GRCh38] Chr17:40491419 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1654-3C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002834763] |
Chr17:42323357 [GRCh38] Chr17:40475375 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1350C>T (p.Leu450=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002899477] |
Chr17:42326131 [GRCh38] Chr17:40478149 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.995A>T (p.His332Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002900894] |
Chr17:42333727 [GRCh38] Chr17:40485745 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.2174C>T (p.Pro725Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002715763] |
Chr17:42316872 [GRCh38] Chr17:40468890 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2141C>A (p.Thr714Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002635401] |
Chr17:42317185 [GRCh38] Chr17:40469203 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1889-14A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002603373] |
Chr17:42322508 [GRCh38] Chr17:40474526 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1889-14A>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003052053] |
Chr17:42322508 [GRCh38] Chr17:40474526 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2142A>C (p.Thr714=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002654443] |
Chr17:42317184 [GRCh38] Chr17:40469202 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2022T>C (p.Tyr674=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003051493] |
Chr17:42322361 [GRCh38] Chr17:40474379 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1907C>A (p.Ser636Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003050468] |
Chr17:42322476 [GRCh38] Chr17:40474494 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1861T>G (p.Phe621Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003050469] |
Chr17:42323031 [GRCh38] Chr17:40475049 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1602A>T (p.Gly534=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002590004] |
Chr17:42323624 [GRCh38] Chr17:40475642 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1281+16G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002587215] |
Chr17:42329394 [GRCh38] Chr17:40481412 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1204G>A (p.Gly402Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002583725]|not provided [RCV003138293] |
Chr17:42329583 [GRCh38] Chr17:40481601 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.765G>A (p.Pro255=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002611222] |
Chr17:42337467 [GRCh38] Chr17:40489485 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2103C>T (p.Ser701=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003068155] |
Chr17:42317223 [GRCh38] Chr17:40469241 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1306C>T (p.Leu436=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002944132] |
Chr17:42326175 [GRCh38] Chr17:40478193 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.680C>T (p.Ala227Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002611721]|not provided [RCV003236950] |
Chr17:42337552 [GRCh38] Chr17:40489570 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1366-5C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003067283] |
Chr17:42325066 [GRCh38] Chr17:40477084 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.562C>A (p.Leu188Met) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV002588104] |
Chr17:42337846 [GRCh38] Chr17:40489864 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1238T>A (p.Leu413Gln) |
single nucleotide variant |
not provided [RCV003227262] |
Chr17:42329453 [GRCh38] Chr17:40481471 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.983G>T (p.Cys328Phe) |
single nucleotide variant |
not provided [RCV003224005] |
Chr17:42333739 [GRCh38] Chr17:40485757 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.961T>G (p.Phe321Val) |
single nucleotide variant |
not provided [RCV003223826] |
Chr17:42333761 [GRCh38] Chr17:40485779 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1235C>T (p.Thr412Ile) |
single nucleotide variant |
not provided [RCV003222914] |
Chr17:42329456 [GRCh38] Chr17:40481474 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.711C>A (p.Asp237Glu) |
single nucleotide variant |
not provided [RCV003138844] |
Chr17:42337521 [GRCh38] Chr17:40489539 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2258-2A>G |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV003225832] |
Chr17:42315802 [GRCh38] Chr17:40467820 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1842_1849delinsTGAAA (p.Lys615_Gly617delinsGluArg) |
indel |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003142263] |
Chr17:42323043..42323050 [GRCh38] Chr17:40475061..40475068 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.836A>C (p.Gln279Pro) |
single nucleotide variant |
not provided [RCV003323095] |
Chr17:42334011 [GRCh38] Chr17:40486029 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2144+9C>G |
single nucleotide variant |
not specified [RCV003324269] |
Chr17:42317173 [GRCh38] Chr17:40469191 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.735_744del (p.Arg246fs) |
deletion |
not specified [RCV003324268] |
Chr17:42337488..42337497 [GRCh38] Chr17:40489506..40489515 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1250G>C (p.Arg417Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005216052]|not specified [RCV003322328] |
Chr17:42329441 [GRCh38] Chr17:40481459 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.393C>A (p.His131Gln) |
single nucleotide variant |
not provided [RCV003326964] |
Chr17:42339389 [GRCh38] Chr17:40491407 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.617T>G (p.Met206Arg) |
single nucleotide variant |
not provided [RCV003328824] |
Chr17:42337791 [GRCh38] Chr17:40489809 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1365G>T (p.Glu455Asp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003333654] |
Chr17:42326116 [GRCh38] Chr17:40478134 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1018A>G (p.Lys340Glu) |
single nucleotide variant |
STAT3-related disorder [RCV003418921] |
Chr17:42333704 [GRCh38] Chr17:40485722 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1049+18del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003791299] |
Chr17:42333655 [GRCh38] Chr17:40485673 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2269T>C (p.Phe757Leu) |
single nucleotide variant |
not provided [RCV003428279] |
Chr17:42315789 [GRCh38] Chr17:40467807 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.666G>A (p.Ala222=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003781517] |
Chr17:42337566 [GRCh38] Chr17:40489584 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1270G>A (p.Ala424Thr) |
single nucleotide variant |
not provided [RCV003480238] |
Chr17:42329421 [GRCh38] Chr17:40481439 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1181T>C (p.Met394Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003783710] |
Chr17:42329606 [GRCh38] Chr17:40481624 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.1601-20A>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003790995] |
Chr17:42323645 [GRCh38] Chr17:40475663 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.208C>T (p.Arg70Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003787164] |
Chr17:42346634 [GRCh38] Chr17:40498652 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2050G>A (p.Gly684Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003782357] |
Chr17:42322333 [GRCh38] Chr17:40474351 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.646-8C>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003787282] |
Chr17:42337594 [GRCh38] Chr17:40489612 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1749-17C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003790068] |
Chr17:42323160 [GRCh38] Chr17:40475178 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1940A>G (p.Asn647Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003782404] |
Chr17:42322443 [GRCh38] Chr17:40474461 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.273+12_273+20del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003786102] |
Chr17:42346549..42346557 [GRCh38] Chr17:40498567..40498575 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.372+3G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003794150] |
Chr17:42345556 [GRCh38] Chr17:40497574 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.484A>G (p.Met162Val) |
single nucleotide variant |
not specified [RCV003494188] |
Chr17:42338797 [GRCh38] Chr17:40490815 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.797+13A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003805768] |
Chr17:42337422 [GRCh38] Chr17:40489440 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1140-3C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003787476] |
Chr17:42329650 [GRCh38] Chr17:40481668 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1282-14T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003782653] |
Chr17:42326213 [GRCh38] Chr17:40478231 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2137G>T (p.Val713Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003797364] |
Chr17:42317189 [GRCh38] Chr17:40469207 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.2257G>A (p.Glu753Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003804625] |
Chr17:42316789 [GRCh38] Chr17:40468807 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.264G>A (p.Gln88=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003804819] |
Chr17:42346578 [GRCh38] Chr17:40498596 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.128+9T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003804814] |
Chr17:42348380 [GRCh38] Chr17:40500398 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1365+18A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003793452] |
Chr17:42326098 [GRCh38] Chr17:40478116 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2299A>G (p.Thr767Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003807107] |
Chr17:42315759 [GRCh38] Chr17:40467777 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.2297C>T (p.Ala766Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003796293]|Inborn genetic diseases [RCV004366602] |
Chr17:42315761 [GRCh38] Chr17:40467779 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1050-5A>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003806513] |
Chr17:42331536 [GRCh38] Chr17:40483554 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.797+17G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003794942] |
Chr17:42337418 [GRCh38] Chr17:40489436 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2007A>C (p.Pro669=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003785420] |
Chr17:42322376 [GRCh38] Chr17:40474394 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.468+5T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003785456] |
Chr17:42339309 [GRCh38] Chr17:40491327 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.928G>A (p.Val310Met) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003795271] |
Chr17:42333919 [GRCh38] Chr17:40485937 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1277G>A (p.Cys426Tyr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003805500] |
Chr17:42329414 [GRCh38] Chr17:40481432 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1049+7C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003790360] |
Chr17:42333666 [GRCh38] Chr17:40485684 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2268C>T (p.Thr756=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003786101] |
Chr17:42315790 [GRCh38] Chr17:40467808 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1907C>T (p.Ser636Phe) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003783708] |
Chr17:42322476 [GRCh38] Chr17:40474494 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.129-18del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003785602] |
Chr17:42346731 [GRCh38] Chr17:40498749 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.129-19T>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003785603] |
Chr17:42346732 [GRCh38] Chr17:40498750 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1234-12C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003781486] |
Chr17:42329469 [GRCh38] Chr17:40481487 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1515C>T (p.Ala505=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003792661] |
Chr17:42324796 [GRCh38] Chr17:40476814 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1775AGCGGG[3] (p.Arg595_Ala596insGluArg) |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003804971] |
Chr17:42323105..42323106 [GRCh38] Chr17:40475123..40475124 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1137A>T (p.Arg379Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003806195] |
Chr17:42329749 [GRCh38] Chr17:40481767 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2145-16C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003795477] |
Chr17:42316917 [GRCh38] Chr17:40468935 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1049+19A>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003783583] |
Chr17:42333654 [GRCh38] Chr17:40485672 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1281+20A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003797284] |
Chr17:42329390 [GRCh38] Chr17:40481408 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1444A>G (p.Met482Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003786055] |
Chr17:42324983 [GRCh38] Chr17:40477001 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1110-14C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003781293] |
Chr17:42329790 [GRCh38] Chr17:40481808 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1682_1684del (p.Phe561del) |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003781414] |
Chr17:42323324..42323326 [GRCh38] Chr17:40475342..40475344 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.646-13G>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003784980] |
Chr17:42337599 [GRCh38] Chr17:40489617 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2250G>A (p.Gly750=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003786274] |
Chr17:42316796 [GRCh38] Chr17:40468814 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1600+7A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003797153] |
Chr17:42324704 [GRCh38] Chr17:40476722 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1855G>A (p.Val619Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003795378]|STAT3-related disorder [RCV004755019] |
Chr17:42323037 [GRCh38] Chr17:40475055 [GRCh37] Chr17:17q21.2 |
likely benign|uncertain significance |
NM_139276.3(STAT3):c.1465-19A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003796635] |
Chr17:42324865 [GRCh38] Chr17:40476883 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.511G>A (p.Asp171Asn) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003807176] |
Chr17:42338770 [GRCh38] Chr17:40490788 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1267C>T (p.Arg423Ter) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003793905] |
Chr17:42329424 [GRCh38] Chr17:40481442 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1756A>G (p.Met586Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003797252] |
Chr17:42323136 [GRCh38] Chr17:40475154 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1233+11G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003791238] |
Chr17:42329543 [GRCh38] Chr17:40481561 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-3C>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003791315] |
Chr17:42337860 [GRCh38] Chr17:40489878 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.432G>A (p.Leu144=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003787407]|not specified [RCV003994586] |
Chr17:42339350 [GRCh38] Chr17:40491368 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1600+5G>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003790504] |
Chr17:42324706 [GRCh38] Chr17:40476724 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.720G>A (p.Leu240=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003790160] |
Chr17:42337512 [GRCh38] Chr17:40489530 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2063G>A (p.Arg688Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003791460] |
Chr17:42322320 [GRCh38] Chr17:40474338 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1597T>C (p.Leu533=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003787661] |
Chr17:42324714 [GRCh38] Chr17:40476732 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1453A>G (p.Asn485Asp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003790187] |
Chr17:42324974 [GRCh38] Chr17:40476992 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.63C>G (p.Leu21=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003793324] |
Chr17:42348454 [GRCh38] Chr17:40500472 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.191T>C (p.Ile64Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003782966]|not provided [RCV004790602] |
Chr17:42346651 [GRCh38] Chr17:40498669 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1866T>G (p.Thr622=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003782793] |
Chr17:42323026 [GRCh38] Chr17:40475044 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1080T>C (p.Tyr360=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003794084] |
Chr17:42331501 [GRCh38] Chr17:40483519 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.956+9G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003791968] |
Chr17:42333882 [GRCh38] Chr17:40485900 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-18T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003810055] |
Chr17:42337875 [GRCh38] Chr17:40489893 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1842C>G (p.Ser614Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003813551]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005014981] |
Chr17:42323050 [GRCh38] Chr17:40475068 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.753C>A (p.Cys251Ter) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003809557] |
Chr17:42337479 [GRCh38] Chr17:40489497 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.128+10T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003809565] |
Chr17:42348379 [GRCh38] Chr17:40500397 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1984G>A (p.Ala662Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003809635] |
Chr17:42322399 [GRCh38] Chr17:40474417 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.225G>T (p.Ser75=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003799456] |
Chr17:42346617 [GRCh38] Chr17:40498635 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.750C>T (p.Ala250=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003808667] |
Chr17:42337482 [GRCh38] Chr17:40489500 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1600+15C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003800584] |
Chr17:42324696 [GRCh38] Chr17:40476714 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1252T>C (p.Cys418Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003809915] |
Chr17:42329439 [GRCh38] Chr17:40481457 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2034C>G (p.Pro678=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003798705] |
Chr17:42322349 [GRCh38] Chr17:40474367 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2101+17G>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003801862] |
Chr17:42322265 [GRCh38] Chr17:40474283 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1464+3T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003808670] |
Chr17:42324960 [GRCh38] Chr17:40476978 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.468+7C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003798550] |
Chr17:42339307 [GRCh38] Chr17:40491325 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2266A>T (p.Thr756Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003812439] |
Chr17:42315792 [GRCh38] Chr17:40467810 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1200C>T (p.Asn400=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003798107] |
Chr17:42329587 [GRCh38] Chr17:40481605 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.856G>A (p.Glu286Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003799680] |
Chr17:42333991 [GRCh38] Chr17:40486009 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1658del (p.Asn553fs) |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003817894] |
Chr17:42323350 [GRCh38] Chr17:40475368 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1749-18C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003800862] |
Chr17:42323161 [GRCh38] Chr17:40475179 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.48G>A (p.Glu16=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003798189] |
Chr17:42348469 [GRCh38] Chr17:40500487 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1592A>G (p.Lys531Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003809961] |
Chr17:42324719 [GRCh38] Chr17:40476737 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.252A>T (p.Arg84=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003809983] |
Chr17:42346590 [GRCh38] Chr17:40498608 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.128+3A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003818102] |
Chr17:42348386 [GRCh38] Chr17:40500404 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1355T>C (p.Ile452Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003799313]|not provided [RCV004780653] |
Chr17:42326126 [GRCh38] Chr17:40478144 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.979C>T (p.Pro327Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003813142] |
Chr17:42333743 [GRCh38] Chr17:40485761 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.917A>C (p.Glu306Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003813656] |
Chr17:42333930 [GRCh38] Chr17:40485948 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1969_1970insTTT (p.Gly656_Tyr657insPhe) |
insertion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003815705] |
Chr17:42322413..42322414 [GRCh38] Chr17:40474431..40474432 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.797+18C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003799017] |
Chr17:42337417 [GRCh38] Chr17:40489435 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1052T>C (p.Leu351Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802234] |
Chr17:42331529 [GRCh38] Chr17:40483547 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.903C>T (p.His301=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802580] |
Chr17:42333944 [GRCh38] Chr17:40485962 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.92G>A (p.Arg31Gln) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802314] |
Chr17:42348425 [GRCh38] Chr17:40500443 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.327G>T (p.Leu109=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003803998] |
Chr17:42345604 [GRCh38] Chr17:40497622 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1847A>C (p.Glu616Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802851] |
Chr17:42323045 [GRCh38] Chr17:40475063 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1335G>A (p.Val445=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802602] |
Chr17:42326146 [GRCh38] Chr17:40478164 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1406A>C (p.Gln469Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003803786] |
Chr17:42325021 [GRCh38] Chr17:40477039 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2258-8C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003803857] |
Chr17:42315808 [GRCh38] Chr17:40467826 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.576C>G (p.Asn192Lys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802340] |
Chr17:42337832 [GRCh38] Chr17:40489850 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1049+3A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802950] |
Chr17:42333670 [GRCh38] Chr17:40485688 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1987_1988delinsCT (p.Thr663Leu) |
indel |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003803645] |
Chr17:42322395..42322396 [GRCh38] Chr17:40474413..40474414 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1178T>A (p.Val393Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003802381] |
Chr17:42329609 [GRCh38] Chr17:40481627 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1109A>G (p.Lys370Arg) |
single nucleotide variant |
not provided [RCV003886772] |
Chr17:42331472 [GRCh38] Chr17:40483490 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1392C>T (p.Ile464=) |
single nucleotide variant |
STAT3-related disorder [RCV003976776] |
Chr17:42325035 [GRCh38] Chr17:40477053 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.909G>A (p.Pro303=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005209650]|not provided [RCV003884938] |
Chr17:42333938 [GRCh38] Chr17:40485956 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1333G>A (p.Val445Met) |
single nucleotide variant |
STAT3-related early-onset multisystem autoimmune disease [RCV003885417] |
Chr17:42326148 [GRCh38] Chr17:40478166 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.921G>A (p.Glu307=) |
single nucleotide variant |
not specified [RCV003994880] |
Chr17:42333926 [GRCh38] Chr17:40485944 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1756A>T (p.Met586Leu) |
single nucleotide variant |
STAT3-related disorder [RCV003983329] |
Chr17:42323136 [GRCh38] Chr17:40475154 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1233+31G>A |
single nucleotide variant |
not provided [RCV003885636] |
Chr17:42329523 [GRCh38] Chr17:40481541 [GRCh37] Chr17:17q21.2 |
benign|likely benign |
NM_139276.3(STAT3):c.78C>T (p.Phe26=) |
single nucleotide variant |
not provided [RCV003887147] |
Chr17:42348439 [GRCh38] Chr17:40500457 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1869G>T (p.Trp623Cys) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV003991658] |
Chr17:42323023 [GRCh38] Chr17:40475041 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1233+44G>C |
single nucleotide variant |
not provided [RCV003886004] |
Chr17:42329510 [GRCh38] Chr17:40481528 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1552C>T (p.Arg518Ter) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004547343] |
Chr17:42324759 [GRCh38] Chr17:40476777 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1118G>C (p.Gly373Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004465507] |
Chr17:42329768 [GRCh38] Chr17:40481786 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.847A>G (p.Lys283Glu) |
single nucleotide variant |
not provided [RCV004599106] |
Chr17:42334000 [GRCh38] Chr17:40486018 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40474280)_(40478306_?)del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004581344] |
Chr17:40474280..40478306 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40467763)_(40491447_?)dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004581346] |
Chr17:40467763..40491447 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40467763)_(40486087_?)dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004581348] |
Chr17:40467763..40486087 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NC_000017.10:g.(?_40489433)_(40489895_?)del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004581345] |
Chr17:40489433..40489895 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1078T>C (p.Tyr360His) |
single nucleotide variant |
not provided [RCV004575918] |
Chr17:42331503 [GRCh38] Chr17:40483521 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1665dup (p.Gly556fs) |
duplication |
not provided [RCV004576083] |
Chr17:42323342..42323343 [GRCh38] Chr17:40475360..40475361 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2101+2T>C |
single nucleotide variant |
not specified [RCV004690918] |
Chr17:42322280 [GRCh38] Chr17:40474298 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1866_1881del (p.Trp623fs) |
deletion |
not provided [RCV004585939] |
Chr17:42323011..42323026 [GRCh38] Chr17:40475029..40475044 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.350A>G (p.Gln117Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005216269]|not specified [RCV004597443] |
Chr17:42345581 [GRCh38] Chr17:40497599 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.665C>T (p.Ala222Val) |
single nucleotide variant |
not provided [RCV004768043] |
Chr17:42337567 [GRCh38] Chr17:40489585 [GRCh37] Chr17:17q21.2 |
uncertain significance |
GRCh37/hg19 17q12-22(chr17:41196270-41277589) |
copy number loss |
Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] |
Chr17:41196270..41277589 [GRCh37] Chr17:17q12-22 |
pathogenic |
NM_139276.3(STAT3):c.306C>T (p.Ala102=) |
single nucleotide variant |
not provided [RCV004811288] |
Chr17:42345625 [GRCh38] Chr17:40497643 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1997T>C (p.Leu666Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004720676] |
Chr17:42322386 [GRCh38] Chr17:40474404 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1230_1233+1del |
deletion |
STAT3-related disorder [RCV004731429] |
Chr17:42329553..42329557 [GRCh38] Chr17:40481571..40481575 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1430T>C (p.Ile477Thr) |
single nucleotide variant |
not provided [RCV004778513] |
Chr17:42324997 [GRCh38] Chr17:40477015 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1553G>A (p.Arg518Gln) |
single nucleotide variant |
STAT3-related disorder [RCV004730626] |
Chr17:42324758 [GRCh38] Chr17:40476776 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.448G>A (p.Asp150Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004969059] |
Chr17:42339334 [GRCh38] Chr17:40491352 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2162C>G (p.Thr721Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004969058] |
Chr17:42316884 [GRCh38] Chr17:40468902 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1786G>T (p.Ala596Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005214901] |
Chr17:42323106 [GRCh38] Chr17:40475124 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1109+19G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005214586] |
Chr17:42331453 [GRCh38] Chr17:40483471 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.37C>T (p.Arg13Trp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005212990] |
Chr17:42348480 [GRCh38] Chr17:40500498 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1202A>G (p.Asn401Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005214048] |
Chr17:42329585 [GRCh38] Chr17:40481603 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.550+14dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005213147] |
Chr17:42338716..42338717 [GRCh38] Chr17:40490734..40490735 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1321T>C (p.Phe441Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005212604] |
Chr17:42326160 [GRCh38] Chr17:40478178 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.553A>T (p.Met185Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210823] |
Chr17:42337855 [GRCh38] Chr17:40489873 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.764C>G (p.Pro255Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005228385] |
Chr17:42337468 [GRCh38] Chr17:40489486 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1842C>A (p.Ser614Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005212845] |
Chr17:42323050 [GRCh38] Chr17:40475068 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1366-19G>A |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005214808] |
Chr17:42325080 [GRCh38] Chr17:40477098 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1368C>A (p.Thr456=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005229341] |
Chr17:42325059 [GRCh38] Chr17:40477077 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1673G>C (p.Gly558Ala) |
single nucleotide variant |
not provided [RCV005054688] |
Chr17:42323335 [GRCh38] Chr17:40475353 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.643A>G (p.Arg215Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210994] |
Chr17:42337765 [GRCh38] Chr17:40489783 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2102-18T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005211077] |
Chr17:42317242 [GRCh38] Chr17:40469260 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1991A>T (p.Asn664Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005211873] |
Chr17:42322392 [GRCh38] Chr17:40474410 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2292G>A (p.Glu764=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210126] |
Chr17:42315766 [GRCh38] Chr17:40467784 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.726C>A (p.Asp242Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005225714] |
Chr17:42337506 [GRCh38] Chr17:40489524 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-13T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210666] |
Chr17:42337870 [GRCh38] Chr17:40489888 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.957-15C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005209736] |
Chr17:42333780 [GRCh38] Chr17:40485798 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.892A>G (p.Ile298Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005226569] |
Chr17:42333955 [GRCh38] Chr17:40485973 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1045G>A (p.Val349Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005209884] |
Chr17:42333677 [GRCh38] Chr17:40485695 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.274-20T>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005211660] |
Chr17:42345677 [GRCh38] Chr17:40497695 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1127C>T (p.Ala376Val) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005214119] |
Chr17:42329759 [GRCh38] Chr17:40481777 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1513G>C (p.Ala505Pro) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005228141] |
Chr17:42324798 [GRCh38] Chr17:40476816 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.273+20A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210738] |
Chr17:42346549 [GRCh38] Chr17:40498567 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1844AAG[1] (p.Glu616del) |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005229006] |
Chr17:42323043..42323045 [GRCh38] Chr17:40475061..40475063 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.934C>T (p.Leu312=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210527] |
Chr17:42333913 [GRCh38] Chr17:40485931 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.894_896del (p.Val299del) |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005212906] |
Chr17:42333951..42333953 [GRCh38] Chr17:40485969..40485971 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.274-15C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005228722] |
Chr17:42345672 [GRCh38] Chr17:40497690 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1842C>T (p.Ser614=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005213827] |
Chr17:42323050 [GRCh38] Chr17:40475068 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2297C>G (p.Ala766Gly) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005211872] |
Chr17:42315761 [GRCh38] Chr17:40467779 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1618T>G (p.Ser540Ala) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210933] |
Chr17:42323608 [GRCh38] Chr17:40475626 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1042A>G (p.Lys348Glu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005211163] |
Chr17:42333680 [GRCh38] Chr17:40485698 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2275A>G (p.Met759Val) |
single nucleotide variant |
not provided [RCV005063656] |
Chr17:42315783 [GRCh38] Chr17:40467801 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.373-16A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005211533] |
Chr17:42339425 [GRCh38] Chr17:40491443 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1139+14A>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005210190] |
Chr17:42329733 [GRCh38] Chr17:40481751 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1049+9T>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005222423] |
Chr17:42333664 [GRCh38] Chr17:40485682 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1109+13A>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005220321] |
Chr17:42331459 [GRCh38] Chr17:40483477 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2175G>A (p.Pro725=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005224065] |
Chr17:42316871 [GRCh38] Chr17:40468889 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.956+12dup |
duplication |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005221533] |
Chr17:42333878..42333879 [GRCh38] Chr17:40485896..40485897 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.2133C>T (p.Ile711=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005219435] |
Chr17:42317193 [GRCh38] Chr17:40469211 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.545A>G (p.Gln182Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005219820] |
Chr17:42338736 [GRCh38] Chr17:40490754 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.273+19G>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005215550] |
Chr17:42346550 [GRCh38] Chr17:40498568 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.361A>T (p.Thr121Ser) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005219280] |
Chr17:42345570 [GRCh38] Chr17:40497588 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.748G>A (p.Ala250Thr) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005223538] |
Chr17:42337484 [GRCh38] Chr17:40489502 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2029A>C (p.Ile677Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005220576] |
Chr17:42322354 [GRCh38] Chr17:40474372 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.551-9C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005216573] |
Chr17:42337866 [GRCh38] Chr17:40489884 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.333A>G (p.Glu111=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005222003] |
Chr17:42345598 [GRCh38] Chr17:40497616 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.429G>A (p.Met143Ile) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005216371] |
Chr17:42339353 [GRCh38] Chr17:40491371 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1749-17C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005222107] |
Chr17:42323160 [GRCh38] Chr17:40475178 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.274-13C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005224570] |
Chr17:42345670 [GRCh38] Chr17:40497688 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1979T>G (p.Met660Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005221521] |
Chr17:42322404 [GRCh38] Chr17:40474422 [GRCh37] Chr17:17q21.2 |
likely pathogenic |
NM_139276.3(STAT3):c.1967_1981del (p.Gly656_Met660del) |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005224408] |
Chr17:42322402..42322416 [GRCh38] Chr17:40474420..40474434 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.173A>G (p.His58Arg) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005219170] |
Chr17:42346669 [GRCh38] Chr17:40498687 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2137G>C (p.Val713Leu) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005221520] |
Chr17:42317189 [GRCh38] Chr17:40469207 [GRCh37] Chr17:17q21.2 |
pathogenic |
NM_139276.3(STAT3):c.468+19C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005221541] |
Chr17:42339295 [GRCh38] Chr17:40491313 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.129-20A>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005223905] |
Chr17:42346733 [GRCh38] Chr17:40498751 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1967G>A (p.Gly656Asp) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005217044] |
Chr17:42322416 [GRCh38] Chr17:40474434 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.469-3C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005219302] |
Chr17:42338815 [GRCh38] Chr17:40490833 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.2258-6C>T |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005217141] |
Chr17:42315806 [GRCh38] Chr17:40467824 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.498G>A (p.Glu166=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005216639] |
Chr17:42338783 [GRCh38] Chr17:40490801 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.551-13del |
deletion |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005217223] |
Chr17:42337870 [GRCh38] Chr17:40489888 [GRCh37] Chr17:17q21.2 |
benign |
NM_139276.3(STAT3):c.1748+18_1748+19del |
microsatellite |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005221825] |
Chr17:42323241..42323242 [GRCh38] Chr17:40475259..40475260 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1809A>G (p.Pro603=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005218586] |
Chr17:42323083 [GRCh38] Chr17:40475101 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1023C>T (p.Thr341=) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005223430] |
Chr17:42333699 [GRCh38] Chr17:40485717 [GRCh37] Chr17:17q21.2 |
likely benign |
NM_139276.3(STAT3):c.1869G>A (p.Trp623Ter) |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005217780] |
Chr17:42323023 [GRCh38] Chr17:40475041 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.373-3C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005220045] |
Chr17:42339412 [GRCh38] Chr17:40491430 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1749-1G>C |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005215607] |
Chr17:42323144 [GRCh38] Chr17:40475162 [GRCh37] Chr17:17q21.2 |
uncertain significance |
NM_139276.3(STAT3):c.1282-11C>G |
single nucleotide variant |
Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV005216796] |
Chr17:42326210 [GRCh38] Chr17:40478228 [GRCh37] Chr17:17q21.2 |
likely benign |