| NM_001199138.2(NLRC4):c.862C>G (p.Arg288Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001853665]|not provided [RCV000521468] |
Chr2:32251002 [GRCh38]
Chr2:32476071 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1999C>T (p.Arg667Trp) |
single nucleotide variant |
not provided [RCV000523688] |
Chr2:32249865 [GRCh38]
Chr2:32474934 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264295]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001394564] |
Chr2:32250088 [GRCh38]
Chr2:32475157 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263807]|NLRC4-related disorder [RCV003925705]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000546974]|not provided [RCV002263806]|not specified [RCV001821634] |
Chr2:32224763 [GRCh38]
Chr2:32449832 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000144517]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001857479]|Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) [RCV000132764]|not provided [RCV000434682] |
Chr2:32250842 [GRCh38]
Chr2:32475911 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1 |
copy number loss |
See cases [RCV000053981] |
Chr2:31370181..32512769 [GRCh38]
Chr2:31593047..32737836 [GRCh37]
Chr2:31446551..32591340 [NCBI36]
Chr2:2p23.1-22.3 |
pathogenic |
| NM_001199138.1(NLRC4):c.1912G>A (p.Glu638Lys) |
single nucleotide variant |
Malignant melanoma [RCV000065568] |
Chr2:32249952 [GRCh38]
Chr2:32475021 [GRCh37]
Chr2:32328525 [NCBI36]
Chr2:2p22.3 |
not provided |
| NM_001199138.1(NLRC4):c.1518G>A (p.Met506Ile) |
single nucleotide variant |
Malignant melanoma [RCV000065569] |
Chr2:32250346 [GRCh38]
Chr2:32475415 [GRCh37]
Chr2:32328919 [NCBI36]
Chr2:2p22.3 |
not provided |
| NM_001199138.1(NLRC4):c.2249G>A (p.Arg750Gln) |
single nucleotide variant |
Malignant melanoma [RCV000060559] |
Chr2:32249615 [GRCh38]
Chr2:32474684 [GRCh37]
Chr2:32328188 [NCBI36]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2614+63A>G |
single nucleotide variant |
not provided [RCV000089196] |
Chr2:32236184 [GRCh38]
Chr2:32461253 [GRCh37]
Chr2:2p22.3 |
not provided |
| inv(2)(p21p23.2) |
inversion |
Endometrial carcinoma [RCV000659263] |
Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.-118-1G>A |
single nucleotide variant |
not provided [RCV000089331] |
Chr2:32256894 [GRCh38]
Chr2:32481963 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.1122C>T (p.Asn374=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001079581]|not provided [RCV000089332] |
Chr2:32250742 [GRCh38]
Chr2:32475811 [GRCh37]
Chr2:2p22.3 |
benign|not provided |
| NM_001199138.2(NLRC4):c.1530A>G (p.Ala510=) |
single nucleotide variant |
NLRC4-related disorder [RCV004748578]|not provided [RCV000089333] |
Chr2:32250334 [GRCh38]
Chr2:32475403 [GRCh37]
Chr2:2p22.3 |
likely benign|not provided |
| NM_001199138.2(NLRC4):c.1570G>A (p.Ala524Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002514549]|not provided [RCV000089334] |
Chr2:32250294 [GRCh38]
Chr2:32475363 [GRCh37]
Chr2:2p22.3 |
uncertain significance|not provided |
| NM_001199138.2(NLRC4):c.1811A>G (p.Asn604Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001058070]|not provided [RCV000089335] |
Chr2:32250053 [GRCh38]
Chr2:32475122 [GRCh37]
Chr2:2p22.3 |
uncertain significance|not provided |
| NM_001199138.2(NLRC4):c.2-130C>G |
single nucleotide variant |
not provided [RCV000089336] |
Chr2:32252809 [GRCh38]
Chr2:32477878 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2-212C>T |
single nucleotide variant |
not provided [RCV000089337] |
Chr2:32252891 [GRCh38]
Chr2:32477960 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2350+283T>C |
single nucleotide variant |
not provided [RCV000089338] |
Chr2:32240750 [GRCh38]
Chr2:32465819 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2521+132A>T |
single nucleotide variant |
not provided [RCV000089339] |
Chr2:32238000 [GRCh38]
Chr2:32463069 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2522-35A>T |
single nucleotide variant |
not provided [RCV000089340] |
Chr2:32236374 [GRCh38]
Chr2:32461443 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2782+102T>C |
single nucleotide variant |
not provided [RCV000089341] |
Chr2:32235299 [GRCh38]
Chr2:32460368 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2782+38G>C |
single nucleotide variant |
not provided [RCV000089342] |
Chr2:32235363 [GRCh38]
Chr2:32460432 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.2782+81C>T |
single nucleotide variant |
not provided [RCV000089343] |
Chr2:32235320 [GRCh38]
Chr2:32460389 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.297C>T (p.Asp99=) |
single nucleotide variant |
NLRC4-related disorder [RCV003915116]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001489814]|not provided [RCV000089344] |
Chr2:32251567 [GRCh38]
Chr2:32476636 [GRCh37]
Chr2:2p22.3 |
likely benign|not provided |
| NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652408]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004783744]|not provided [RCV000089345]|not specified [RCV003330434] |
Chr2:32250936 [GRCh38]
Chr2:32476005 [GRCh37]
Chr2:2p22.3 |
conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000660478] |
Chr2:32250390 [GRCh38]
Chr2:32475459 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.1(NLRC4):c.-1155A>G |
single nucleotide variant |
not provided [RCV000089197] |
Chr2:32265774 [GRCh38]
Chr2:32490843 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.1(NLRC4):c.-1330G>T |
single nucleotide variant |
not provided [RCV000089198] |
Chr2:32265949 [GRCh38]
Chr2:32491018 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.1(NLRC4):c.-1874C>A |
single nucleotide variant |
not provided [RCV000089199] |
Chr2:32266493 [GRCh38]
Chr2:32491562 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.1(NLRC4):c.-1925A>T |
single nucleotide variant |
not provided [RCV000089200] |
Chr2:32266544 [GRCh38]
Chr2:32491613 [GRCh37]
Chr2:2p22.3 |
not provided |
| NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV000148929]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227277] |
Chr2:32250536 [GRCh38]
Chr2:32475605 [GRCh37]
Chr2:2p22.3 |
pathogenic|not provided |
| NM_001199138.2(NLRC4):c.1661T>C (p.Phe554Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002001552] |
Chr2:32250203 [GRCh38]
Chr2:32475272 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.443G>T (p.Arg148Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001348988] |
Chr2:32251421 [GRCh38]
Chr2:32476490 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1009A>T (p.Thr337Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000144518]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001382868] |
Chr2:32250855 [GRCh38]
Chr2:32475924 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3 |
copy number gain |
See cases [RCV000137454] |
Chr2:32107824..32499727 [GRCh38]
Chr2:32332893..32724794 [GRCh37]
Chr2:32186397..32578298 [NCBI36]
Chr2:2p22.3 |
uncertain significance |
| GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3 |
copy number gain |
See cases [RCV000141819] |
Chr2:32104942..32501212 [GRCh38]
Chr2:32330011..32726279 [GRCh37]
Chr2:32183515..32579783 [NCBI36]
Chr2:2p22.3 |
uncertain significance |
| GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 |
copy number gain |
See cases [RCV000141829] |
Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3 |
pathogenic |
| GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 |
copy number gain |
See cases [RCV000141494] |
Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2 |
benign |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| Single allele |
deletion |
Hereditary spastic paraplegia 4 [RCV000203462] |
Chr2:32327163..32886455 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| Single allele |
deletion |
Hereditary spastic paraplegia 4 [RCV000203468] |
Chr2:32362824..32817794 [GRCh37]
Chr2:2p22.3 |
pathogenic|likely pathogenic |
| Single allele |
deletion |
Hereditary spastic paraplegia 4 [RCV000203489] |
Chr2:32076979..32247094 [GRCh38]
Chr2:32302047..32472162 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| Single allele |
deletion |
Hereditary spastic paraplegia 4 [RCV000203490] |
Chr2:32348594..33632523 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263805]|NLRC4-related disorder [RCV003925704]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000546624]|not provided [RCV001706673]|not specified [RCV002268166] |
Chr2:32238296 [GRCh38]
Chr2:32463365 [GRCh37]
Chr2:2p22.3 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001199138.2(NLRC4):c.876C>T (p.Ala292=) |
single nucleotide variant |
not provided [RCV003312470] |
Chr2:32250988 [GRCh38]
Chr2:32476057 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del |
deletion |
Hereditary spastic paraplegia 4 [RCV001269482] |
Chr2:32312562..32958959 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.931G>A (p.Glu311Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002227543] |
Chr2:32250933 [GRCh38]
Chr2:32476002 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.512C>T (p.Ser171Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000414888] |
Chr2:32251352 [GRCh38]
Chr2:32476421 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 |
copy number gain |
See cases [RCV000454271] |
Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1 |
pathogenic |
| GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 |
copy number gain |
See cases [RCV000447397] |
Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21 |
pathogenic |
| NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263692]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000531949]|not provided [RCV001727728]|not specified [RCV000454626] |
Chr2:32235443 [GRCh38]
Chr2:32460512 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV001782914]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001511110]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001782913]|not provided [RCV001675900]|not specified [RCV000455300] |
Chr2:32250040 [GRCh38]
Chr2:32475109 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.543A>C (p.Arg181=) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV001782916]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001511111]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001782915]|not provided [RCV001824777]|not specified [RCV000455841] |
Chr2:32251321 [GRCh38]
Chr2:32476390 [GRCh37]
Chr2:2p22.3 |
benign|not provided |
| NM_001199138.2(NLRC4):c.1+4_1+7del |
microsatellite |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001042860]|not provided [RCV000487085] |
Chr2:32256768..32256771 [GRCh38]
Chr2:32481837..32481840 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys) |
single nucleotide variant |
not provided [RCV000487229] |
Chr2:32251244 [GRCh38]
Chr2:32476313 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.1542A>G (p.Gln514=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263804]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000531894]|not provided [RCV004708951] |
Chr2:32250322 [GRCh38]
Chr2:32475391 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.1511C>T (p.Ala504Val) |
single nucleotide variant |
not provided [RCV000492808] |
Chr2:32250353 [GRCh38]
Chr2:32475422 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.1271C>A (p.Thr424Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003281737] |
Chr2:32250593 [GRCh38]
Chr2:32475662 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p22.3(chr2:32339736-32875274) |
copy number loss |
not provided [RCV000767550] |
Chr2:32339736..32875274 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.2464C>A (p.Leu822Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003275229]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216027] |
Chr2:32238189 [GRCh38]
Chr2:32463258 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) |
inversion |
Small cell lung carcinoma [RCV000576833] |
Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21 |
pathogenic |
| NM_001199138.2(NLRC4):c.952G>C (p.Ala318Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003262484]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003779989] |
Chr2:32250912 [GRCh38]
Chr2:32475981 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2426A>G (p.Asp809Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000558163]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003227790] |
Chr2:32238227 [GRCh38]
Chr2:32463296 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004957962]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652407] |
Chr2:32224496 [GRCh38]
Chr2:32449565 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1015C>A (p.Leu339Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652409] |
Chr2:32250849 [GRCh38]
Chr2:32475918 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.90G>A (p.Trp30Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652410] |
Chr2:32252591 [GRCh38]
Chr2:32477660 [GRCh37]
Chr2:2p22.3 |
pathogenic|likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1870T>A (p.Trp624Arg) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263914]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652411]|not provided [RCV004708980] |
Chr2:32249994 [GRCh38]
Chr2:32475063 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2615-8T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652412] |
Chr2:32235576 [GRCh38]
Chr2:32460645 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263915]|NLRC4-related disorder [RCV003965401]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652413] |
Chr2:32224603 [GRCh38]
Chr2:32449672 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263916]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652414]|not provided [RCV002510948] |
Chr2:32235456 [GRCh38]
Chr2:32460525 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.2668T>C (p.Cys890Arg) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263917]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652415]|not provided [RCV004708981] |
Chr2:32235515 [GRCh38]
Chr2:32460584 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263918]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652416]|not provided [RCV001701430] |
Chr2:32251386 [GRCh38]
Chr2:32476455 [GRCh37]
Chr2:2p22.3 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001199138.2(NLRC4):c.2247A>G (p.Gln749=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001427396] |
Chr2:32249617 [GRCh38]
Chr2:32474686 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263919]|NLRC4-related disorder [RCV003945671]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652418]|not provided [RCV003424249] |
Chr2:32250181 [GRCh38]
Chr2:32475250 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.2256G>A (p.Pro752=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652419]|not provided [RCV004711280] |
Chr2:32249608 [GRCh38]
Chr2:32474677 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2350+9T>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652420] |
Chr2:32241024 [GRCh38]
Chr2:32466093 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1248G>A (p.Val416=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263920]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652421]|not provided [RCV001311916] |
Chr2:32250616 [GRCh38]
Chr2:32475685 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.1734C>A (p.Phe578Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000699034] |
Chr2:32250130 [GRCh38]
Chr2:32475199 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000704206] |
Chr2:32224580 [GRCh38]
Chr2:32449649 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705772]|not provided [RCV002223926] |
Chr2:32224705 [GRCh38]
Chr2:32449774 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.213dup (p.Ser72fs) |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000685008] |
Chr2:32252467..32252468 [GRCh38]
Chr2:32477536..32477537 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.371T>C (p.Ile124Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000699609] |
Chr2:32251493 [GRCh38]
Chr2:32476562 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1475G>A (p.Arg492Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000691940] |
Chr2:32250389 [GRCh38]
Chr2:32475458 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000698617]|not provided [RCV001771979] |
Chr2:32238204 [GRCh38]
Chr2:32463273 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.494G>C (p.Cys165Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000694762] |
Chr2:32251370 [GRCh38]
Chr2:32476439 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002533484]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000697341] |
Chr2:32250993 [GRCh38]
Chr2:32476062 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV001334126]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000688756] |
Chr2:32250110 [GRCh38]
Chr2:32475179 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.845A>C (p.Glu282Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705199] |
Chr2:32251019 [GRCh38]
Chr2:32476088 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3033T>G (p.Asp1011Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705693] |
Chr2:32224515 [GRCh38]
Chr2:32449584 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.176_178delinsGG (p.Leu59fs) |
indel |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000685768] |
Chr2:32252503..32252505 [GRCh38]
Chr2:32477572..32477574 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.104G>A (p.Arg35His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000703380]|not specified [RCV003323694] |
Chr2:32252577 [GRCh38]
Chr2:32477646 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1160T>C (p.Ile387Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000692040] |
Chr2:32250704 [GRCh38]
Chr2:32475773 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| Single allele |
deletion |
Spastic paraplegia [RCV001004038] |
Chr2:32300219..32451677 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 |
copy number gain |
not provided [RCV000752875] |
Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3 |
pathogenic |
| GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 |
copy number gain |
not provided [RCV001532444] |
Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.945G>A (p.Lys315=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264127]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001484322] |
Chr2:32250919 [GRCh38]
Chr2:32475988 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2759_2760del (p.Thr920fs) |
microsatellite |
not provided [RCV000762265] |
Chr2:32235423..32235424 [GRCh38]
Chr2:32460492..32460493 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1304T>A (p.Phe435Tyr) |
single nucleotide variant |
NLRC4-related disorder [RCV003898048]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001043552] |
Chr2:32250560 [GRCh38]
Chr2:32475629 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1214A>G (p.Lys405Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067134] |
Chr2:32250650 [GRCh38]
Chr2:32475719 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1047G>T (p.Met349Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067298] |
Chr2:32250817 [GRCh38]
Chr2:32475886 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2631G>A (p.Val877=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264097]|NLRC4-related disorder [RCV003895625]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002066014] |
Chr2:32235552 [GRCh38]
Chr2:32460621 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.327C>T (p.Tyr109=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001493540] |
Chr2:32251537 [GRCh38]
Chr2:32476606 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2370G>C (p.Leu790=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000982074] |
Chr2:32238283 [GRCh38]
Chr2:32463352 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2589T>C (p.Asp863=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001491073] |
Chr2:32236272 [GRCh38]
Chr2:32461341 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.549C>T (p.Ala183=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264134]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002549592] |
Chr2:32251315 [GRCh38]
Chr2:32476384 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2844T>C (p.Arg948=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000899473] |
Chr2:32224704 [GRCh38]
Chr2:32449773 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.240A>G (p.Leu80=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472394] |
Chr2:32252441 [GRCh38]
Chr2:32477510 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1357C>T (p.Arg453Ter) |
single nucleotide variant |
NLRC4-related disorder [RCV004749544]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000923633]|not provided [RCV003132123] |
Chr2:32250507 [GRCh38]
Chr2:32475576 [GRCh37]
Chr2:2p22.3 |
pathogenic|likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002539287]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000879716] |
Chr2:32251431 [GRCh38]
Chr2:32476500 [GRCh37]
Chr2:2p22.3 |
benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1978A>G (p.Arg660Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061192] |
Chr2:32249886 [GRCh38]
Chr2:32474955 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1400T>C (p.Val467Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001051135] |
Chr2:32250464 [GRCh38]
Chr2:32475533 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1466G>C (p.Ser489Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001055275] |
Chr2:32250398 [GRCh38]
Chr2:32475467 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.124T>C (p.Cys42Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061606] |
Chr2:32252557 [GRCh38]
Chr2:32477626 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.913G>A (p.Ala305Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061803] |
Chr2:32250951 [GRCh38]
Chr2:32476020 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2263C>A (p.Leu755Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001035785] |
Chr2:32241120 [GRCh38]
Chr2:32466189 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2818C>T (p.Gln940Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001038069] |
Chr2:32224730 [GRCh38]
Chr2:32449799 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.236C>T (p.Pro79Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001072000] |
Chr2:32252445 [GRCh38]
Chr2:32477514 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2680G>T (p.Gly894Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001037658] |
Chr2:32235503 [GRCh38]
Chr2:32460572 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.112G>A (p.Val38Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004649432]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001051964] |
Chr2:32252569 [GRCh38]
Chr2:32477638 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2959C>T (p.Leu987Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001054223] |
Chr2:32224589 [GRCh38]
Chr2:32449658 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1010C>A (p.Thr337Asn) |
single nucleotide variant |
not provided [RCV000788693] |
Chr2:32250854 [GRCh38]
Chr2:32475923 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.1380G>A (p.Thr460=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264079]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000907961] |
Chr2:32250484 [GRCh38]
Chr2:32475553 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.2277G>A (p.Leu759=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001493155] |
Chr2:32241106 [GRCh38]
Chr2:32466175 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1564T>C (p.Ser522Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000936869] |
Chr2:32250300 [GRCh38]
Chr2:32475369 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.1311A>G (p.Pro437=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002545927] |
Chr2:32250553 [GRCh38]
Chr2:32475622 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2487C>T (p.Ser829=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001438140] |
Chr2:32238166 [GRCh38]
Chr2:32463235 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264092]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000918927]|not provided [RCV001091366] |
Chr2:32235554 [GRCh38]
Chr2:32460623 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.123T>C (p.Ile41=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001087163]|not provided [RCV000942263] |
Chr2:32252558 [GRCh38]
Chr2:32477627 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2257+7T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000940031] |
Chr2:32249600 [GRCh38]
Chr2:32474669 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.30C>T (p.Ala10=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000914153]|not provided [RCV001311919] |
Chr2:32252651 [GRCh38]
Chr2:32477720 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.839C>T (p.Thr280Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003314367] |
Chr2:32251025 [GRCh38]
Chr2:32476094 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.377T>C (p.Ile126Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000815607] |
Chr2:32251487 [GRCh38]
Chr2:32476556 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264022]|Inborn genetic diseases [RCV002537487]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000821025] |
Chr2:32251583 [GRCh38]
Chr2:32476652 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002263988]|Inborn genetic diseases [RCV002534612]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000796870]|not provided [RCV004792481] |
Chr2:32235536 [GRCh38]
Chr2:32460605 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2380T>C (p.Cys794Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000819165]|See cases [RCV002252251] |
Chr2:32238273 [GRCh38]
Chr2:32463342 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2368C>G (p.Leu790Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793374] |
Chr2:32238285 [GRCh38]
Chr2:32463354 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1571C>T (p.Ala524Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000801225] |
Chr2:32250293 [GRCh38]
Chr2:32475362 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002534796]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000804885] |
Chr2:32251292 [GRCh38]
Chr2:32476361 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1651A>G (p.Ile551Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000803212] |
Chr2:32250213 [GRCh38]
Chr2:32475282 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2043dup (p.Lys682fs) |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000807387] |
Chr2:32249820..32249821 [GRCh38]
Chr2:32474889..32474890 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000807528] |
Chr2:32224597 [GRCh38]
Chr2:32449666 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1242C>T (p.Ser414=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002067622]|not provided [RCV000997113] |
Chr2:32250622 [GRCh38]
Chr2:32475691 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2847G>A (p.Val949=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000893562] |
Chr2:32224701 [GRCh38]
Chr2:32449770 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1897G>A (p.Gly633Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793139]|not provided [RCV002263979] |
Chr2:32249967 [GRCh38]
Chr2:32475036 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000819412] |
Chr2:32224495 [GRCh38]
Chr2:32449564 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1229T>C (p.Leu410Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000799324] |
Chr2:32250635 [GRCh38]
Chr2:32475704 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002538133]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000812783]|not provided [RCV001172136] |
Chr2:32224623 [GRCh38]
Chr2:32449692 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV002468606]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793887] |
Chr2:32235455 [GRCh38]
Chr2:32460524 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.103C>T (p.Arg35Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000820690] |
Chr2:32252578 [GRCh38]
Chr2:32477647 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.263-7C>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001440500]|not provided [RCV000788753] |
Chr2:32251608 [GRCh38]
Chr2:32476677 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.287G>T (p.Gly96Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000804554] |
Chr2:32251577 [GRCh38]
Chr2:32476646 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000823683] |
Chr2:32224688 [GRCh38]
Chr2:32449757 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2674G>A (p.Val892Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000805103] |
Chr2:32235509 [GRCh38]
Chr2:32460578 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1 |
copy number loss |
not provided [RCV000848001] |
Chr2:29940473..36813297 [GRCh37]
Chr2:2p23.2-22.2 |
pathogenic |
| NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000811655] |
Chr2:32224666 [GRCh38]
Chr2:32449735 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1799A>G (p.Glu600Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000795239] |
Chr2:32250065 [GRCh38]
Chr2:32475134 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264155]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001046241] |
Chr2:32251247 [GRCh38]
Chr2:32476316 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003166313]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000812067] |
Chr2:32251388 [GRCh38]
Chr2:32476457 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1163G>A (p.Arg388Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000791482] |
Chr2:32250701 [GRCh38]
Chr2:32475770 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002537993]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000798401] |
Chr2:32224486 [GRCh38]
Chr2:32449555 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000822046] |
Chr2:32235470 [GRCh38]
Chr2:32460539 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000800820] |
Chr2:32250974 [GRCh38]
Chr2:32476043 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.966G>A (p.Leu322=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000978114] |
Chr2:32250898 [GRCh38]
Chr2:32475967 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2387_2388del (p.Phe796fs) |
deletion |
not provided [RCV000997110] |
Chr2:32238265..32238266 [GRCh38]
Chr2:32463334..32463335 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.514G>A (p.Gly172Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001858853]|not provided [RCV000997114] |
Chr2:32251350 [GRCh38]
Chr2:32476419 [GRCh37]
Chr2:2p22.3 |
likely pathogenic|uncertain significance |
| NM_001199138.2(NLRC4):c.583A>C (p.Thr195Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001043473] |
Chr2:32251281 [GRCh38]
Chr2:32476350 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.929G>A (p.Arg310Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001202888] |
Chr2:32250935 [GRCh38]
Chr2:32476004 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.371T>G (p.Ile124Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001208575] |
Chr2:32251493 [GRCh38]
Chr2:32476562 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2369T>C (p.Leu790Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001217498] |
Chr2:32238284 [GRCh38]
Chr2:32463353 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.129C>T (p.Cys43=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264234]|NLRC4-related disorder [RCV003963132]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001223843] |
Chr2:32252552 [GRCh38]
Chr2:32477621 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1025T>C (p.Val342Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001238333] |
Chr2:32250839 [GRCh38]
Chr2:32475908 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.863G>A (p.Arg288Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207237] |
Chr2:32251001 [GRCh38]
Chr2:32476070 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1484G>A (p.Cys495Tyr) |
single nucleotide variant |
not provided [RCV000997111] |
Chr2:32250380 [GRCh38]
Chr2:32475449 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2458T>C (p.Cys820Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001210160] |
Chr2:32238195 [GRCh38]
Chr2:32463264 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1621A>G (p.Thr541Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001232490] |
Chr2:32250243 [GRCh38]
Chr2:32475312 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.718C>T (p.Arg240Trp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207476] |
Chr2:32251146 [GRCh38]
Chr2:32476215 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2876G>C (p.Gly959Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001247319]|not provided [RCV001751504] |
Chr2:32224672 [GRCh38]
Chr2:32449741 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p23.1-22.3(chr2:31958977-33946495)x1 |
copy number loss |
not provided [RCV000846044] |
Chr2:31958977..33946495 [GRCh37]
Chr2:2p23.1-22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.286G>C (p.Gly96Arg) |
single nucleotide variant |
NLRC4-related disorder [RCV003396709]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001065350] |
Chr2:32251578 [GRCh38]
Chr2:32476647 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1021G>T (p.Val341Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003126395] |
Chr2:32250843 [GRCh38]
Chr2:32475912 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.2782+122T>C |
single nucleotide variant |
not provided [RCV001676280] |
Chr2:32235279 [GRCh38]
Chr2:32235279..32235280 [GRCh38]
Chr2:32460348 [GRCh37]
Chr2:32460348..32460349 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2001G>A (p.Arg667=) |
single nucleotide variant |
not provided [RCV001532395] |
Chr2:32249863 [GRCh38]
Chr2:32474932 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264062]|NLRC4-related disorder [RCV003920823]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000894690] |
Chr2:32250781 [GRCh38]
Chr2:32475850 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.2522-8T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001423017] |
Chr2:32236347 [GRCh38]
Chr2:32461416 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.432A>G (p.Gln144=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000932380] |
Chr2:32251432 [GRCh38]
Chr2:32476501 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2522-4C>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001484770] |
Chr2:32236343 [GRCh38]
Chr2:32461412 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1651A>T (p.Ile551Phe) |
single nucleotide variant |
NLRC4-related disorder [RCV004749533]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001441723] |
Chr2:32250213 [GRCh38]
Chr2:32475282 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264123]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000974731] |
Chr2:32251232 [GRCh38]
Chr2:32476301 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.2883T>C (p.Phe961=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001457338]|not provided [RCV004711403] |
Chr2:32224665 [GRCh38]
Chr2:32449734 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264125]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001482908]|not provided [RCV003883519] |
Chr2:32250295 [GRCh38]
Chr2:32475364 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.444C>T (p.Arg148=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001426153] |
Chr2:32251420 [GRCh38]
Chr2:32476489 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.912C>T (p.Ser304=) |
single nucleotide variant |
NLRC4-related disorder [RCV003930860]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000894108]|not specified [RCV004689920] |
Chr2:32250952 [GRCh38]
Chr2:32476021 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264118]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000973771] |
Chr2:32235555 [GRCh38]
Chr2:32460624 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2614+9G>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000908962] |
Chr2:32236238 [GRCh38]
Chr2:32461307 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1940G>A (p.Arg647Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001239247]|not provided [RCV002224035] |
Chr2:32249924 [GRCh38]
Chr2:32474993 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.926T>A (p.Ile309Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227069] |
Chr2:32250938 [GRCh38]
Chr2:32476007 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.854G>A (p.Arg285Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227284] |
Chr2:32251010 [GRCh38]
Chr2:32476079 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2255C>T (p.Pro752Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216639] |
Chr2:32249609 [GRCh38]
Chr2:32474678 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.185G>A (p.Gly62Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216947] |
Chr2:32252496 [GRCh38]
Chr2:32477565 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.809G>A (p.Arg270His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001237610] |
Chr2:32251055 [GRCh38]
Chr2:32476124 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1628A>C (p.Gln543Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002554515]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067299]|not provided [RCV002254950] |
Chr2:32250236 [GRCh38]
Chr2:32475305 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2687T>A (p.Leu896Gln) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264236]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227748] |
Chr2:32235496 [GRCh38]
Chr2:32460565 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_31558804)_(32481864_?)dup |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001031927] |
Chr2:31558804..32481864 [GRCh37]
Chr2:2p23.1-22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2628C>T (p.Asn876=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000913022]|not provided [RCV001091367] |
Chr2:32235555 [GRCh38]
Chr2:32460624 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.1329C>G (p.His443Gln) |
single nucleotide variant |
not provided [RCV000997112] |
Chr2:32250535 [GRCh38]
Chr2:32475604 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.2646C>T (p.Thr882=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002065804]|not provided [RCV003411888] |
Chr2:32235537 [GRCh38]
Chr2:32460606 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1224C>T (p.Phe408=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000933986] |
Chr2:32250640 [GRCh38]
Chr2:32475709 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264103]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000934720] |
Chr2:32250784 [GRCh38]
Chr2:32475853 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1333T>C (p.Ser445Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227784]|not provided [RCV002469924] |
Chr2:32250531 [GRCh38]
Chr2:32475600 [GRCh37]
Chr2:2p22.3 |
pathogenic|likely pathogenic |
| NM_001199138.2(NLRC4):c.1+50del |
deletion |
not provided [RCV001595611]|not specified [RCV003394157] |
Chr2:32256725 [GRCh38]
Chr2:32481794 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2350+73T>C |
single nucleotide variant |
not provided [RCV001614066]|not specified [RCV003394164] |
Chr2:32240960 [GRCh38]
Chr2:32466029 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2783-54_2783-51dup |
duplication |
not provided [RCV001678315] |
Chr2:32224810..32224811 [GRCh38]
Chr2:32449879..32449880 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2783-40_2783-37del |
deletion |
not provided [RCV001676261] |
Chr2:32224802..32224805 [GRCh38]
Chr2:32449871..32449874 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2783-41_2783-38del |
deletion |
not provided [RCV001620330]|not specified [RCV003399431] |
Chr2:32224803..32224806 [GRCh38]
Chr2:32449872..32449875 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2615-151dup |
duplication |
not provided [RCV001621408] |
Chr2:32235710..32235711 [GRCh38]
Chr2:32460779..32460780 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2615-182_2615-176del |
deletion |
not provided [RCV001674777] |
Chr2:32235744..32235750 [GRCh38]
Chr2:32460813..32460819 [GRCh37]
Chr2:2p22.3 |
benign |
| NC_000002.12:g.(?_32241013)_(32241145_?)del |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001032196] |
Chr2:32466082..32466214 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2443_2444del (p.Leu815fs) |
microsatellite |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001047216] |
Chr2:32238209..32238210 [GRCh38]
Chr2:32463278..32463279 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2783-45A>T |
single nucleotide variant |
not provided [RCV001667887] |
Chr2:32224810 [GRCh38]
Chr2:32449879 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2783-42_2783-38del |
deletion |
not provided [RCV001616329] |
Chr2:32224803..32224807 [GRCh38]
Chr2:32449872..32449876 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.545T>C (p.Ile182Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001048963] |
Chr2:32251319 [GRCh38]
Chr2:32476388 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.272A>G (p.His91Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216201] |
Chr2:32251592 [GRCh38]
Chr2:32476661 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.59T>C (p.Ile20Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001060818] |
Chr2:32252622 [GRCh38]
Chr2:32477691 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2945C>A (p.Ala982Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001236029] |
Chr2:32224603 [GRCh38]
Chr2:32449672 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2430_2433del (p.Asp809_Tyr810insTer) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001202442] |
Chr2:32238220..32238223 [GRCh38]
Chr2:32463289..32463292 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2663G>A (p.Trp888Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001236273] |
Chr2:32235520 [GRCh38]
Chr2:32460589 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2474T>C (p.Ile825Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207310] |
Chr2:32238179 [GRCh38]
Chr2:32463248 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.944A>G (p.Lys315Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001040827] |
Chr2:32250920 [GRCh38]
Chr2:32475989 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3064G>C (p.Val1022Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216755] |
Chr2:32224484 [GRCh38]
Chr2:32449553 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2751G>T (p.Trp917Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001053905] |
Chr2:32235432 [GRCh38]
Chr2:32460501 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264171]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001064228] |
Chr2:32251209 [GRCh38]
Chr2:32476278 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.380T>C (p.Ile127Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004960376]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001054882]|not provided [RCV001311917] |
Chr2:32251484 [GRCh38]
Chr2:32476553 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.358C>G (p.Leu120Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001055870] |
Chr2:32251506 [GRCh38]
Chr2:32476575 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.734T>A (p.Phe245Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001232532] |
Chr2:32251130 [GRCh38]
Chr2:32476199 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p22.3(chr2:32269694-32457939)x1 |
copy number loss |
not provided [RCV001259146] |
Chr2:32269694..32457939 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| Single allele |
deletion |
Spastic paraplegia [RCV001267824] |
Chr2:32323584..32958959 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.627G>C (p.Gln209His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001325376] |
Chr2:32251237 [GRCh38]
Chr2:32476306 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1134T>G (p.His378Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001351046] |
Chr2:32250730 [GRCh38]
Chr2:32475799 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.652G>A (p.Asp218Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342154] |
Chr2:32251212 [GRCh38]
Chr2:32476281 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.443G>A (p.Arg148His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001317565] |
Chr2:32251421 [GRCh38]
Chr2:32476490 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1090C>T (p.His364Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001295569] |
Chr2:32250774 [GRCh38]
Chr2:32475843 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1738C>G (p.Gln580Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001338680] |
Chr2:32250126 [GRCh38]
Chr2:32475195 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1488del (p.Ser497fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001316911] |
Chr2:32250376 [GRCh38]
Chr2:32475445 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1162C>T (p.Arg388Trp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001301892] |
Chr2:32250702 [GRCh38]
Chr2:32475771 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2232T>G (p.His744Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342555] |
Chr2:32249632 [GRCh38]
Chr2:32474701 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.598G>A (p.Val200Ile) |
single nucleotide variant |
NLRC4-related disorder [RCV003405529]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001309366] |
Chr2:32251266 [GRCh38]
Chr2:32476335 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1754A>C (p.Tyr585Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001321863] |
Chr2:32250110 [GRCh38]
Chr2:32475179 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1147G>C (p.Ala383Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001313608] |
Chr2:32250717 [GRCh38]
Chr2:32475786 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2268_2271del (p.Asp757fs) |
microsatellite |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124489]|not specified [RCV004700657] |
Chr2:32241112..32241115 [GRCh38]
Chr2:32466181..32466184 [GRCh37]
Chr2:2p22.3 |
pathogenic|likely benign |
| NM_001199138.2(NLRC4):c.1075_1076del (p.Gln359fs) |
microsatellite |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001304695] |
Chr2:32250788..32250789 [GRCh38]
Chr2:32475857..32475858 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1769A>G (p.Asn590Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001372426] |
Chr2:32250095 [GRCh38]
Chr2:32475164 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1934C>T (p.Pro645Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003169805]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001361706] |
Chr2:32249930 [GRCh38]
Chr2:32474999 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.741_742insTTTTTTTTTTNNNNNNNNNNGGGAGACCGTGGAGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTTCTTTTCCTTCTT (p.Leu247_Asp248insPhePhePheXaaXaaXaaXaaGlyAspArgGlyGlyArgArgArgArgArgArgArgArgArgArgArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgValLeuPheLeuLeu) |
microsatellite |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001367771] |
Chr2:32251122..32251123 [GRCh38]
Chr2:32476191..32476192 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1691A>C (p.Glu564Ala) |
single nucleotide variant |
not provided [RCV001787499] |
Chr2:32250173 [GRCh38]
Chr2:32475242 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.542_543delinsAC (p.Arg181His) |
indel |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001370758] |
Chr2:32251321..32251322 [GRCh38]
Chr2:32476390..32476391 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.781A>T (p.Ile261Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001370803] |
Chr2:32251083 [GRCh38]
Chr2:32476152 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1778A>G (p.Asp593Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001372894] |
Chr2:32250086 [GRCh38]
Chr2:32475155 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.88del (p.Trp30fs) |
deletion |
NLRC4-related disorder [RCV003416262]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001361196] |
Chr2:32252593 [GRCh38]
Chr2:32477662 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.445G>A (p.Val149Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001343419] |
Chr2:32251419 [GRCh38]
Chr2:32476488 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.436C>T (p.His146Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001364667] |
Chr2:32251428 [GRCh38]
Chr2:32476497 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1877del (p.Lys626fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001371161] |
Chr2:32249987 [GRCh38]
Chr2:32475056 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.541C>T (p.Arg181Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001362886] |
Chr2:32251323 [GRCh38]
Chr2:32476392 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.327_329del (p.His110del) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001323983] |
Chr2:32251535..32251537 [GRCh38]
Chr2:32476604..32476606 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1551C>A (p.Cys517Ter) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV001329845] |
Chr2:32250313 [GRCh38]
Chr2:32475382 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3075A>G (p.Ter1025=) |
single nucleotide variant |
Autoinflammation with infantile enterocolitis [RCV001334128] |
Chr2:32224473 [GRCh38]
Chr2:32449542 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.312T>G (p.Asp104Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002543583]|not provided [RCV001311918] |
Chr2:32251552 [GRCh38]
Chr2:32476621 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004035010]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001320595] |
Chr2:32252655 [GRCh38]
Chr2:32477724 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1156T>C (p.Phe386Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001322229] |
Chr2:32250708 [GRCh38]
Chr2:32475777 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264272]|Inborn genetic diseases [RCV003346497]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342715] |
Chr2:32250240 [GRCh38]
Chr2:32475309 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.419G>A (p.Trp140Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001320876] |
Chr2:32251445 [GRCh38]
Chr2:32476514 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2560_2564del (p.Asp854fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001340134] |
Chr2:32236297..32236301 [GRCh38]
Chr2:32461366..32461370 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2386T>C (p.Phe796Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001307186] |
Chr2:32238267 [GRCh38]
Chr2:32463336 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1082C>T (p.Thr361Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001298816] |
Chr2:32250782 [GRCh38]
Chr2:32475851 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1441_1449del (p.Ser481_Ile483del) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001340309] |
Chr2:32250415..32250423 [GRCh38]
Chr2:32475484..32475492 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2258-8T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001413785] |
Chr2:32241133 [GRCh38]
Chr2:32466202 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.757T>C (p.Phe253Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001296298] |
Chr2:32251107 [GRCh38]
Chr2:32476176 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1021G>C (p.Val341Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001270834]|not provided [RCV001587311] |
Chr2:32250843 [GRCh38]
Chr2:32475912 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.207T>C (p.Phe69=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001412435] |
Chr2:32252474 [GRCh38]
Chr2:32477543 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1918C>T (p.Pro640Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001360810] |
Chr2:32249946 [GRCh38]
Chr2:32475015 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.999T>C (p.Asn333=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001412903] |
Chr2:32250865 [GRCh38]
Chr2:32475934 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2375A>G (p.Lys792Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001326159] |
Chr2:32238278 [GRCh38]
Chr2:32463347 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.199A>C (p.Asn67His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001502331] |
Chr2:32252482 [GRCh38]
Chr2:32477551 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2721A>G (p.Pro907=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001490398] |
Chr2:32235462 [GRCh38]
Chr2:32460531 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.201C>T (p.Asn67=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001454785] |
Chr2:32252480 [GRCh38]
Chr2:32477549 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.603C>T (p.Phe201=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001458938] |
Chr2:32251261 [GRCh38]
Chr2:32476330 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2522-13dup |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001510921] |
Chr2:32236345..32236346 [GRCh38]
Chr2:32461414..32461415 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.480T>C (p.Ala160=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264347]|NLRC4-related disorder [RCV003900660]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001480042] |
Chr2:32251384 [GRCh38]
Chr2:32476453 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264333]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001455360] |
Chr2:32250700 [GRCh38]
Chr2:32475769 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1014T>C (p.Pro338=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001426205] |
Chr2:32250850 [GRCh38]
Chr2:32475919 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.262+8T>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001503417] |
Chr2:32252411 [GRCh38]
Chr2:32477480 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2592A>G (p.Gly864=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001453056] |
Chr2:32236269 [GRCh38]
Chr2:32461338 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.951T>A (p.Leu317=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472496] |
Chr2:32250913 [GRCh38]
Chr2:32475982 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1545C>T (p.His515=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001439526] |
Chr2:32250319 [GRCh38]
Chr2:32475388 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264315]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001432383] |
Chr2:32250388 [GRCh38]
Chr2:32475457 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.772T>C (p.Cys258Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001873776]|not provided [RCV001532396] |
Chr2:32251092 [GRCh38]
Chr2:32476161 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2177T>C (p.Ile726Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001435904]|not provided [RCV003883641] |
Chr2:32249687 [GRCh38]
Chr2:32474756 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.105C>T (p.Arg35=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264320]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001436076] |
Chr2:32252576 [GRCh38]
Chr2:32477645 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.249C>T (p.Asp83=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264321]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001444468]|not provided [RCV003334053] |
Chr2:32252432 [GRCh38]
Chr2:32477501 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.263-9C>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001429008] |
Chr2:32251610 [GRCh38]
Chr2:32476679 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.208C>T (p.Leu70Phe) |
single nucleotide variant |
NLRC4-related disorder [RCV003946067]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001406076] |
Chr2:32252473 [GRCh38]
Chr2:32477542 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1386T>C (p.His462=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001418145] |
Chr2:32250478 [GRCh38]
Chr2:32475547 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2391T>C (p.His797=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001411484] |
Chr2:32238262 [GRCh38]
Chr2:32463331 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004038563]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001457772] |
Chr2:32251566 [GRCh38]
Chr2:32476635 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2649A>G (p.Ala883=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001459600] |
Chr2:32235534 [GRCh38]
Chr2:32460603 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2350+9T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001517223] |
Chr2:32241024 [GRCh38]
Chr2:32466093 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2257+10A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001487663] |
Chr2:32249597 [GRCh38]
Chr2:32474666 [GRCh37]
Chr2:2p22.3 |
likely benign |
| GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 |
copy number gain |
See cases [RCV001581099] |
Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21 |
pathogenic |
| NM_001199138.2(NLRC4):c.2783-48_2783-46dup |
duplication |
not provided [RCV001674135]|not specified [RCV003394199] |
Chr2:32224810..32224811 [GRCh38]
Chr2:32449879..32449880 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.1467C>T (p.Ser489=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001460580] |
Chr2:32250397 [GRCh38]
Chr2:32475466 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2522-86_2522-85insG |
insertion |
not provided [RCV001688037]|not specified [RCV003401619] |
Chr2:32236424..32236425 [GRCh38]
Chr2:32461493..32461494 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.126C>T (p.Cys42=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001501428] |
Chr2:32252555 [GRCh38]
Chr2:32477624 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264339]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472041] |
Chr2:32224591 [GRCh38]
Chr2:32449660 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.753T>C (p.Asn251=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001468893] |
Chr2:32251111 [GRCh38]
Chr2:32476180 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2631G>C (p.Val877=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001513192] |
Chr2:32235552 [GRCh38]
Chr2:32460621 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.915_943del (p.Gln306fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001462775] |
Chr2:32250921..32250949 [GRCh38]
Chr2:32475990..32476018 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1665A>G (p.Val555=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001469116] |
Chr2:32250199 [GRCh38]
Chr2:32475268 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264335]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001459754] |
Chr2:32224713 [GRCh38]
Chr2:32449782 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.263-15C>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001476037] |
Chr2:32251616 [GRCh38]
Chr2:32476685 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2614+12A>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001517547]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001732199]|not provided [RCV001729933] |
Chr2:32236235 [GRCh38]
Chr2:32461304 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.2-8C>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001466415] |
Chr2:32252687 [GRCh38]
Chr2:32477756 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.822G>C (p.Met274Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004038249]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001427813] |
Chr2:32251042 [GRCh38]
Chr2:32476111 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2802C>T (p.Asn934=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001430344] |
Chr2:32224746 [GRCh38]
Chr2:32449815 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.855G>A (p.Arg285=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001479355] |
Chr2:32251009 [GRCh38]
Chr2:32476078 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1323C>T (p.Phe441=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472051]|not provided [RCV004711668] |
Chr2:32250541 [GRCh38]
Chr2:32475610 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1666_1696del (p.Glu556fs) |
deletion |
not provided [RCV001727132] |
Chr2:32250168..32250198 [GRCh38]
Chr2:32475237..32475267 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2258-3C>G |
single nucleotide variant |
not provided [RCV001727131] |
Chr2:32241128 [GRCh38]
Chr2:32466197 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1016T>C (p.Leu339Pro) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV001730172] |
Chr2:32250848 [GRCh38]
Chr2:32475917 [GRCh37]
Chr2:2p22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.2662T>C (p.Trp888Arg) |
single nucleotide variant |
NLRC4-related disorder [RCV003900860]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882842]|not provided [RCV001751867] |
Chr2:32235521 [GRCh38]
Chr2:32460590 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2793dup (p.Gly932fs) |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882819]|not provided [RCV001756463] |
Chr2:32224754..32224755 [GRCh38]
Chr2:32449823..32449824 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1017C>G (p.Leu339=) |
single nucleotide variant |
not provided [RCV001815881] |
Chr2:32250847 [GRCh38]
Chr2:32475916 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1533A>C (p.Ala511=) |
single nucleotide variant |
not provided [RCV004809261] |
Chr2:32250331 [GRCh38]
Chr2:32475400 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1+5G>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001964389] |
Chr2:32256770 [GRCh38]
Chr2:32481839 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2924A>G (p.Lys975Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001913126] |
Chr2:32224624 [GRCh38]
Chr2:32449693 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264427]|Inborn genetic diseases [RCV003375437]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001928506] |
Chr2:32251160 [GRCh38]
Chr2:32476229 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2533C>T (p.His845Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001894424] |
Chr2:32236328 [GRCh38]
Chr2:32461397 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2672_2674del (p.Asp891del) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001986567] |
Chr2:32235509..32235511 [GRCh38]
Chr2:32460578..32460580 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.829G>A (p.Val277Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002045057] |
Chr2:32251035 [GRCh38]
Chr2:32476104 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_31558824)_(32481844_?)dup |
duplication |
Hereditary spastic paraplegia 4 [RCV001871077] |
Chr2:31558824..32481844 [GRCh37]
Chr2:2p23.1-22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2713del (p.Glu905fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001971517] |
Chr2:32235470 [GRCh38]
Chr2:32460539 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.733T>G (p.Phe245Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001926558] |
Chr2:32251131 [GRCh38]
Chr2:32476200 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.97C>G (p.Leu33Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002005375] |
Chr2:32252584 [GRCh38]
Chr2:32477653 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.8T>C (p.Phe3Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001968848] |
Chr2:32252673 [GRCh38]
Chr2:32477742 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3004C>T (p.Leu1002Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002041309] |
Chr2:32224544 [GRCh38]
Chr2:32449613 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_32474656)_(32481844_?)dup |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001912964] |
Chr2:32474656..32481844 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1276C>A (p.Leu426Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004641727]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001870747] |
Chr2:32250588 [GRCh38]
Chr2:32475657 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1751del (p.Leu584fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001927460] |
Chr2:32250113 [GRCh38]
Chr2:32475182 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2100G>A (p.Val700=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002003964] |
Chr2:32249764 [GRCh38]
Chr2:32474833 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2634_2642del (p.Glu879_Leu881del) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001983539] |
Chr2:32235541..32235549 [GRCh38]
Chr2:32460610..32460618 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1891A>G (p.Thr631Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004045324]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001983823] |
Chr2:32249973 [GRCh38]
Chr2:32475042 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1579C>A (p.Pro527Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004044008]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001910325] |
Chr2:32250285 [GRCh38]
Chr2:32475354 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1839A>C (p.Lys613Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001926632] |
Chr2:32250025 [GRCh38]
Chr2:32475094 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.487A>G (p.Ser163Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001968336] |
Chr2:32251377 [GRCh38]
Chr2:32476446 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_32288901)_(32481844_?)dup |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001946236] |
Chr2:32288901..32481844 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1585_1586del (p.Trp529fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001892033] |
Chr2:32250278..32250279 [GRCh38]
Chr2:32475347..32475348 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.526T>A (p.Ser176Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001907866] |
Chr2:32251338 [GRCh38]
Chr2:32476407 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.701C>T (p.Ala234Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001894752]|not provided [RCV004693831] |
Chr2:32251163 [GRCh38]
Chr2:32476232 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.577G>C (p.Ala193Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004651859]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001949206] |
Chr2:32251287 [GRCh38]
Chr2:32476356 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1683A>C (p.Leu561Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002041557] |
Chr2:32250181 [GRCh38]
Chr2:32475250 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1183G>T (p.Asp395Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002002881] |
Chr2:32250681 [GRCh38]
Chr2:32475750 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2830T>G (p.Leu944Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001928347] |
Chr2:32224718 [GRCh38]
Chr2:32449787 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1616del (p.Asn539fs) |
deletion |
Autoinflammatory syndrome [RCV002264424]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001913832] |
Chr2:32250248 [GRCh38]
Chr2:32475317 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) |
copy number loss |
not specified [RCV002053089] |
Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21 |
pathogenic |
| NM_001199138.2(NLRC4):c.2927A>G (p.Glu976Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001965559] |
Chr2:32224621 [GRCh38]
Chr2:32449690 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2665G>A (p.Gly889Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001948026] |
Chr2:32235518 [GRCh38]
Chr2:32460587 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.773G>A (p.Cys258Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001927670] |
Chr2:32251091 [GRCh38]
Chr2:32476160 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2614+1G>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002000777] |
Chr2:32236246 [GRCh38]
Chr2:32461315 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.271C>T (p.His91Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001888493] |
Chr2:32251593 [GRCh38]
Chr2:32476662 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2378T>C (p.Met793Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001981775] |
Chr2:32238275 [GRCh38]
Chr2:32463344 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.73G>A (p.Asp25Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001999592] |
Chr2:32252608 [GRCh38]
Chr2:32477677 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264446]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002038203] |
Chr2:32224746 [GRCh38]
Chr2:32449815 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1824_1825delinsTG (p.Leu609Val) |
indel |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002047236] |
Chr2:32250039..32250040 [GRCh38]
Chr2:32475108..32475109 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1175A>G (p.His392Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001925118] |
Chr2:32250689 [GRCh38]
Chr2:32475758 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.489C>A (p.Ser163Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002037172] |
Chr2:32251375 [GRCh38]
Chr2:32476444 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.176T>G (p.Leu59Trp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001991769] |
Chr2:32252505 [GRCh38]
Chr2:32477574 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2071A>G (p.Arg691Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002036836] |
Chr2:32249793 [GRCh38]
Chr2:32474862 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1331A>C (p.Lys444Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001941054] |
Chr2:32250533 [GRCh38]
Chr2:32475602 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1531G>A (p.Ala511Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001884062] |
Chr2:32250333 [GRCh38]
Chr2:32475402 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1478A>G (p.Tyr493Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001916662] |
Chr2:32250386 [GRCh38]
Chr2:32475455 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2938G>C (p.Asp980His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001974224] |
Chr2:32224610 [GRCh38]
Chr2:32449679 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2112_2113del (p.Ser705fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001955849] |
Chr2:32249751..32249752 [GRCh38]
Chr2:32474820..32474821 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2089T>G (p.Cys697Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002049730] |
Chr2:32249775 [GRCh38]
Chr2:32474844 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.262+12T>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001955963] |
Chr2:32252407 [GRCh38]
Chr2:32477476 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.262+4A>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001901936] |
Chr2:32252415 [GRCh38]
Chr2:32477484 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.222G>C (p.Lys74Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001919568] |
Chr2:32252459 [GRCh38]
Chr2:32477528 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2166T>G (p.Ser722Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002048547] |
Chr2:32249698 [GRCh38]
Chr2:32474767 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.570G>C (p.Lys190Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001994119] |
Chr2:32251294 [GRCh38]
Chr2:32476363 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1625A>T (p.Glu542Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002032338] |
Chr2:32250239 [GRCh38]
Chr2:32475308 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.261A>G (p.Gln87=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001898510] |
Chr2:32252420 [GRCh38]
Chr2:32477489 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.106G>A (p.Glu36Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002031309] |
Chr2:32252575 [GRCh38]
Chr2:32477644 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2306T>C (p.Ile769Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002026504] |
Chr2:32241077 [GRCh38]
Chr2:32466146 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2582A>C (p.Glu861Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002033258] |
Chr2:32236279 [GRCh38]
Chr2:32461348 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1764_1765del (p.Gly589fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001934678] |
Chr2:32250099..32250100 [GRCh38]
Chr2:32475168..32475169 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.610C>T (p.Arg204Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001919058] |
Chr2:32251254 [GRCh38]
Chr2:32476323 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.136G>C (p.Val46Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001956682] |
Chr2:32252545 [GRCh38]
Chr2:32477614 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.280T>C (p.Ser94Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882245] |
Chr2:32251584 [GRCh38]
Chr2:32476653 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.611G>A (p.Arg204His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001952006] |
Chr2:32251253 [GRCh38]
Chr2:32476322 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2750G>A (p.Trp917Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001933946] |
Chr2:32235433 [GRCh38]
Chr2:32460502 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.628G>T (p.Gly210Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001998984] |
Chr2:32251236 [GRCh38]
Chr2:32476305 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.139G>A (p.Glu47Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001875124] |
Chr2:32252542 [GRCh38]
Chr2:32477611 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1972G>C (p.Glu658Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002035783] |
Chr2:32249892 [GRCh38]
Chr2:32474961 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1363C>T (p.Leu455Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001878090] |
Chr2:32250501 [GRCh38]
Chr2:32475570 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3025G>T (p.Asp1009Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003264366]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001994259] |
Chr2:32224523 [GRCh38]
Chr2:32449592 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1535T>C (p.Val512Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001977245] |
Chr2:32250329 [GRCh38]
Chr2:32475398 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2204T>C (p.Val735Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001995142] |
Chr2:32249660 [GRCh38]
Chr2:32474729 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2822A>G (p.Gln941Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001995238] |
Chr2:32224726 [GRCh38]
Chr2:32449795 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2041G>C (p.Gly681Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001923049] |
Chr2:32249823 [GRCh38]
Chr2:32474892 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_32449542)_(32461428_?)dup |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001952785] |
Chr2:32449542..32461428 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2614+6A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002028036] |
Chr2:32236241 [GRCh38]
Chr2:32461310 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_32466082)_(32481844_?)dup |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001978421] |
Chr2:32466082..32481844 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2522-7T>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001938524] |
Chr2:32236346 [GRCh38]
Chr2:32461415 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2434G>A (p.Val812Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001939286] |
Chr2:32238219 [GRCh38]
Chr2:32463288 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2845G>C (p.Val949Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001921549] |
Chr2:32224703 [GRCh38]
Chr2:32449772 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1099T>C (p.Tyr367His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002015189] |
Chr2:32250765 [GRCh38]
Chr2:32475834 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.296A>G (p.Asp99Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001875544] |
Chr2:32251568 [GRCh38]
Chr2:32476637 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.808C>T (p.Arg270Cys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002264401]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001866391] |
Chr2:32251056 [GRCh38]
Chr2:32476125 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1456A>G (p.Thr486Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002032118] |
Chr2:32250408 [GRCh38]
Chr2:32475477 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1574A>G (p.Lys525Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004651895]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001976949] |
Chr2:32250290 [GRCh38]
Chr2:32475359 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1079C>T (p.Thr360Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001977027] |
Chr2:32250785 [GRCh38]
Chr2:32475854 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.263-12C>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002185888] |
Chr2:32251613 [GRCh38]
Chr2:32476682 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.263-20C>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129929] |
Chr2:32251621 [GRCh38]
Chr2:32476690 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.816G>A (p.Lys272=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002166322] |
Chr2:32251048 [GRCh38]
Chr2:32476117 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.486G>A (p.Gln162=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002125923] |
Chr2:32251378 [GRCh38]
Chr2:32476447 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1902C>T (p.Ile634=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002110957] |
Chr2:32249962 [GRCh38]
Chr2:32475031 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2258-6T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002186789] |
Chr2:32241131 [GRCh38]
Chr2:32466200 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1290T>C (p.Tyr430=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002091836] |
Chr2:32250574 [GRCh38]
Chr2:32475643 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2257+17T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002072680] |
Chr2:32249590 [GRCh38]
Chr2:32474659 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1929C>T (p.Tyr643=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002188743] |
Chr2:32249935 [GRCh38]
Chr2:32475004 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2232T>C (p.His744=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002192242] |
Chr2:32249632 [GRCh38]
Chr2:32474701 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1776C>A (p.Pro592=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002126327] |
Chr2:32250088 [GRCh38]
Chr2:32475157 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1528G>A (p.Ala510Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129632]|not provided [RCV004793731] |
Chr2:32250336 [GRCh38]
Chr2:32475405 [GRCh37]
Chr2:2p22.3 |
benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2350+9del |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002192467] |
Chr2:32241024 [GRCh38]
Chr2:32466093 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2350+12G>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002108541] |
Chr2:32241021 [GRCh38]
Chr2:32466090 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2258-15T>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002087666] |
Chr2:32241140 [GRCh38]
Chr2:32466209 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1740A>G (p.Gln580=) |
single nucleotide variant |
NLRC4-related disorder [RCV003895821]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124948] |
Chr2:32250124 [GRCh38]
Chr2:32475193 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.564C>T (p.Ser188=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129354] |
Chr2:32251300 [GRCh38]
Chr2:32476369 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2607T>C (p.His869=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002109103] |
Chr2:32236254 [GRCh38]
Chr2:32461323 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2351-9A>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002148060] |
Chr2:32238311 [GRCh38]
Chr2:32463380 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2739G>A (p.Gly913=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002172369] |
Chr2:32235444 [GRCh38]
Chr2:32460513 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2970G>A (p.Val990=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002193459] |
Chr2:32224578 [GRCh38]
Chr2:32449647 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.909C>T (p.Asp303=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002095138] |
Chr2:32250955 [GRCh38]
Chr2:32476024 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2005T>A (p.Phe669Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005209562]|not provided [RCV002214145] |
Chr2:32249859 [GRCh38]
Chr2:32474928 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.315A>G (p.Leu105=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002216314] |
Chr2:32251549 [GRCh38]
Chr2:32476618 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2615-13_2615-12del |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002115264] |
Chr2:32235580..32235581 [GRCh38]
Chr2:32460649..32460650 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.918G>A (p.Gln306=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002152922] |
Chr2:32250946 [GRCh38]
Chr2:32476015 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2091T>C (p.Cys697=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002076495] |
Chr2:32249773 [GRCh38]
Chr2:32474842 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2-11C>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002148096] |
Chr2:32252690 [GRCh38]
Chr2:32477759 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.262+20G>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002187627] |
Chr2:32252399 [GRCh38]
Chr2:32477468 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1+10T>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002212396] |
Chr2:32256765 [GRCh38]
Chr2:32481834 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1044G>A (p.Gln348=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002094389] |
Chr2:32250820 [GRCh38]
Chr2:32475889 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.186T>C (p.Gly62=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002080599] |
Chr2:32252495 [GRCh38]
Chr2:32477564 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1443G>A (p.Ser481=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002181021] |
Chr2:32250421 [GRCh38]
Chr2:32475490 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1272T>C (p.Thr424=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002197855] |
Chr2:32250592 [GRCh38]
Chr2:32475661 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.513T>G (p.Ser171=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002136033] |
Chr2:32251351 [GRCh38]
Chr2:32476420 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.837T>C (p.Thr279=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002102740] |
Chr2:32251027 [GRCh38]
Chr2:32476096 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.744T>C (p.Asp248=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002101024] |
Chr2:32251120 [GRCh38]
Chr2:32476189 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2257+20T>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002142978] |
Chr2:32249587 [GRCh38]
Chr2:32474656 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.411T>G (p.Pro137=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002156212] |
Chr2:32251453 [GRCh38]
Chr2:32476522 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2904G>C (p.Val968=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002161086] |
Chr2:32224644 [GRCh38]
Chr2:32449713 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1317T>C (p.Tyr439=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002142413] |
Chr2:32250547 [GRCh38]
Chr2:32475616 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.120C>A (p.Ile40=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002083161] |
Chr2:32252561 [GRCh38]
Chr2:32477630 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1254G>A (p.Glu418=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002200214] |
Chr2:32250610 [GRCh38]
Chr2:32475679 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1+11G>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124141] |
Chr2:32256764 [GRCh38]
Chr2:32481833 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1878G>A (p.Lys626=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002198522] |
Chr2:32249986 [GRCh38]
Chr2:32475055 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1830C>T (p.Asp610=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002198798] |
Chr2:32250034 [GRCh38]
Chr2:32475103 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2782+18G>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003110407] |
Chr2:32235383 [GRCh38]
Chr2:32460452 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NC_000002.11:g.(?_32461296)_(32466214_?)del |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003109827] |
Chr2:32461296..32466214 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1321T>C (p.Phe441Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003117934] |
Chr2:32250543 [GRCh38]
Chr2:32475612 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.687G>A (p.Lys229=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003121558] |
Chr2:32251177 [GRCh38]
Chr2:32476246 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs) |
duplication |
Autoinflammatory syndrome [RCV002262084]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225590] |
Chr2:32250453..32250454 [GRCh38]
Chr2:32475522..32475523 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1630G>T (p.Glu544Ter) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262087] |
Chr2:32250234 [GRCh38]
Chr2:32475303 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262085]|Inborn genetic diseases [RCV003095941]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774822]|not provided [RCV003222408] |
Chr2:32250314 [GRCh38]
Chr2:32475383 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.2156T>C (p.Val719Ala) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262090] |
Chr2:32249708 [GRCh38]
Chr2:32474777 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.565G>A (p.Gly189Arg) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262104]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225591] |
Chr2:32251299 [GRCh38]
Chr2:32476368 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2467G>A (p.Glu823Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262094] |
Chr2:32238186 [GRCh38]
Chr2:32463255 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262098]|Familial cold autoinflammatory syndrome 4 [RCV004816990]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003448454]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213638] |
Chr2:32224720 [GRCh38]
Chr2:32449789 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1302G>T (p.Arg434Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262082] |
Chr2:32250562 [GRCh38]
Chr2:32475631 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.195C>A (p.Ser65=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262089] |
Chr2:32252486 [GRCh38]
Chr2:32477555 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2196C>A (p.Ile732=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262091] |
Chr2:32249668 [GRCh38]
Chr2:32474737 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262099]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003101480] |
Chr2:32224632 [GRCh38]
Chr2:32449701 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.551T>C (p.Met184Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262103] |
Chr2:32251313 [GRCh38]
Chr2:32476382 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1569C>A (p.Ile523=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262086] |
Chr2:32250295 [GRCh38]
Chr2:32475364 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.-10A>T |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262079] |
Chr2:32256785 [GRCh38]
Chr2:32481854 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262083]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774821] |
Chr2:32250485 [GRCh38]
Chr2:32475554 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.21T>G (p.Asn7Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262092] |
Chr2:32252660 [GRCh38]
Chr2:32477729 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2659C>A (p.Pro887Thr) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262095] |
Chr2:32235524 [GRCh38]
Chr2:32460593 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2668T>A (p.Cys890Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262096] |
Chr2:32235515 [GRCh38]
Chr2:32460584 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.459C>G (p.Thr153=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262101] |
Chr2:32251405 [GRCh38]
Chr2:32476474 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.-48A>G |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262102] |
Chr2:32256823 [GRCh38]
Chr2:32481892 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.597C>T (p.Phe199=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262105]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774823] |
Chr2:32251267 [GRCh38]
Chr2:32476336 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1015C>G (p.Leu339Val) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262078] |
Chr2:32250849 [GRCh38]
Chr2:32475918 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.114A>G (p.Val38=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262080] |
Chr2:32252567 [GRCh38]
Chr2:32477636 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1724T>C (p.Phe575Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262088] |
Chr2:32250140 [GRCh38]
Chr2:32475209 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2255C>A (p.Pro752Gln) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262093] |
Chr2:32249609 [GRCh38]
Chr2:32474678 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.333C>G (p.Thr111=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262100] |
Chr2:32251531 [GRCh38]
Chr2:32476600 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.763C>T (p.Pro255Ser) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262107] |
Chr2:32251101 [GRCh38]
Chr2:32476170 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 |
copy number loss |
See cases [RCV002287563] |
Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13 |
pathogenic |
| NM_001199138.2(NLRC4):c.1225G>A (p.Glu409Lys) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262081] |
Chr2:32250639 [GRCh38]
Chr2:32475708 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262097]|Inborn genetic diseases [RCV004047427]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003095942] |
Chr2:32235467 [GRCh38]
Chr2:32460536 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.648C>A (p.Leu216=) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262106]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774824] |
Chr2:32251216 [GRCh38]
Chr2:32476285 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.881C>T (p.Thr294Ile) |
single nucleotide variant |
Autoinflammatory syndrome [RCV002262108] |
Chr2:32250983 [GRCh38]
Chr2:32476052 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1637T>G (p.Leu546Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002297254] |
Chr2:32250227 [GRCh38]
Chr2:32475296 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p22.3(chr2:32194952-32826745)x4 |
copy number gain |
not provided [RCV002473855] |
Chr2:32194952..32826745 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 |
copy number gain |
not provided [RCV002473946] |
Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.2231A>G (p.His744Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002295392] |
Chr2:32249633 [GRCh38]
Chr2:32474702 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1779T>G (p.Asp593Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002302095] |
Chr2:32250085 [GRCh38]
Chr2:32475154 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2545A>C (p.Lys849Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002297875] |
Chr2:32236316 [GRCh38]
Chr2:32461385 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2789T>A (p.Phe930Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002295081] |
Chr2:32224759 [GRCh38]
Chr2:32449828 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2099T>G (p.Val700Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002614594] |
Chr2:32249765 [GRCh38]
Chr2:32474834 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.542_543delinsCC (p.Arg181Pro) |
indel |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003013607] |
Chr2:32251321..32251322 [GRCh38]
Chr2:32476390..32476391 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1094C>A (p.Thr365Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002816333] |
Chr2:32250770 [GRCh38]
Chr2:32475839 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.442C>T (p.Arg148Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002903207]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002903206] |
Chr2:32251422 [GRCh38]
Chr2:32476491 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2124C>T (p.Leu708=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002816180] |
Chr2:32249740 [GRCh38]
Chr2:32474809 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1426A>G (p.Lys476Glu) |
single nucleotide variant |
not provided [RCV002511962] |
Chr2:32250438 [GRCh38]
Chr2:32475507 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1020T>C (p.Phe340=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002756423] |
Chr2:32250844 [GRCh38]
Chr2:32475913 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2258-19A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002756629] |
Chr2:32241144 [GRCh38]
Chr2:32466213 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1893del (p.Gly632fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003032839] |
Chr2:32249971 [GRCh38]
Chr2:32475040 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1023G>C (p.Val341=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002780175] |
Chr2:32250841 [GRCh38]
Chr2:32475910 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1852G>A (p.Gly618Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003076142] |
Chr2:32250012 [GRCh38]
Chr2:32475081 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1367G>A (p.Ser456Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002755691] |
Chr2:32250497 [GRCh38]
Chr2:32475566 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2678A>G (p.Gln893Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002815155] |
Chr2:32235505 [GRCh38]
Chr2:32460574 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1776C>G (p.Pro592=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002842069] |
Chr2:32250088 [GRCh38]
Chr2:32475157 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2-6C>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003012435] |
Chr2:32252685 [GRCh38]
Chr2:32477754 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2501C>T (p.Ala834Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002730389] |
Chr2:32238152 [GRCh38]
Chr2:32463221 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1232A>C (p.Gln411Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002904796] |
Chr2:32250632 [GRCh38]
Chr2:32475701 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1133A>G (p.His378Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002838788] |
Chr2:32250731 [GRCh38]
Chr2:32475800 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.984C>G (p.Ser328=) |
single nucleotide variant |
not provided [RCV002511963] |
Chr2:32250880 [GRCh38]
Chr2:32475949 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1630G>C (p.Glu544Gln) |
single nucleotide variant |
not provided [RCV002511961] |
Chr2:32250234 [GRCh38]
Chr2:32475303 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2217A>G (p.Lys739=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002615768] |
Chr2:32249647 [GRCh38]
Chr2:32474716 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2782+19A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002617833] |
Chr2:32235382 [GRCh38]
Chr2:32460451 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2350+18A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003075787] |
Chr2:32241015 [GRCh38]
Chr2:32466084 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2222T>C (p.Leu741Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002750886] |
Chr2:32249642 [GRCh38]
Chr2:32474711 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.740T>C (p.Leu247Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003080434] |
Chr2:32251124 [GRCh38]
Chr2:32476193 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.297C>A (p.Asp99Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003269250]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002695955] |
Chr2:32251567 [GRCh38]
Chr2:32476636 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2037T>A (p.Tyr679Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002871475] |
Chr2:32249827 [GRCh38]
Chr2:32474896 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.132G>A (p.Glu44=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003054770] |
Chr2:32252549 [GRCh38]
Chr2:32477618 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2244T>A (p.Asn748Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003003007] |
Chr2:32249620 [GRCh38]
Chr2:32474689 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2616C>T (p.Ile872=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002621274] |
Chr2:32235567 [GRCh38]
Chr2:32460636 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1897_1899dup (p.Gly633_Ile634insGly) |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002975953] |
Chr2:32249964..32249965 [GRCh38]
Chr2:32475033..32475034 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2388T>C (p.Phe796=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003037934] |
Chr2:32238265 [GRCh38]
Chr2:32463334 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1461T>C (p.Tyr487=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002591390] |
Chr2:32250403 [GRCh38]
Chr2:32475472 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1270A>C (p.Thr424Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002948716] |
Chr2:32250594 [GRCh38]
Chr2:32475663 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1941G>T (p.Arg647Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002690727] |
Chr2:32249923 [GRCh38]
Chr2:32474992 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2257+20T>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003035837] |
Chr2:32249587 [GRCh38]
Chr2:32474656 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2804C>T (p.Pro935Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002735136] |
Chr2:32224744 [GRCh38]
Chr2:32449813 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.612_613delinsAA (p.Leu205Ile) |
indel |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002636463] |
Chr2:32251251..32251252 [GRCh38]
Chr2:32476320..32476321 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1395G>C (p.Glu465Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003080161] |
Chr2:32250469 [GRCh38]
Chr2:32475538 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2478A>G (p.Gln826=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002975946] |
Chr2:32238175 [GRCh38]
Chr2:32463244 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.324G>C (p.Leu108Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003100678] |
Chr2:32251540 [GRCh38]
Chr2:32476609 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2038C>G (p.Leu680Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002913042] |
Chr2:32249826 [GRCh38]
Chr2:32474895 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2326A>G (p.Asn776Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002637276] |
Chr2:32241057 [GRCh38]
Chr2:32466126 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2700G>A (p.Leu900=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002570946] |
Chr2:32235483 [GRCh38]
Chr2:32460552 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1256A>C (p.Asp419Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003038538] |
Chr2:32250608 [GRCh38]
Chr2:32475677 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1195G>A (p.Glu399Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002889182] |
Chr2:32250669 [GRCh38]
Chr2:32475738 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1757T>C (p.Ile586Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003038224] |
Chr2:32250107 [GRCh38]
Chr2:32475176 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.964T>C (p.Leu322=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002780881] |
Chr2:32250900 [GRCh38]
Chr2:32475969 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2139C>T (p.Asn713=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002639803] |
Chr2:32249725 [GRCh38]
Chr2:32474794 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2865T>G (p.Leu955=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002866165] |
Chr2:32224683 [GRCh38]
Chr2:32449752 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1861A>G (p.Met621Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003052917] |
Chr2:32250003 [GRCh38]
Chr2:32475072 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.78C>T (p.Asp26=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002591049] |
Chr2:32252603 [GRCh38]
Chr2:32477672 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.719G>A (p.Arg240Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003017923] |
Chr2:32251145 [GRCh38]
Chr2:32476214 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2908T>A (p.Phe970Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002829917] |
Chr2:32224640 [GRCh38]
Chr2:32449709 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.634C>G (p.Leu212Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002800813] |
Chr2:32251230 [GRCh38]
Chr2:32476299 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2-2A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002932142] |
Chr2:32252681 [GRCh38]
Chr2:32477750 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.81A>G (p.Leu27=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002594365] |
Chr2:32252600 [GRCh38]
Chr2:32477669 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1309C>A (p.Pro437Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003084987] |
Chr2:32250555 [GRCh38]
Chr2:32475624 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2450G>A (p.Ser817Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002642457] |
Chr2:32238203 [GRCh38]
Chr2:32463272 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1894G>A (p.Gly632Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002642630] |
Chr2:32249970 [GRCh38]
Chr2:32475039 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3004C>A (p.Leu1002Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003083451] |
Chr2:32224544 [GRCh38]
Chr2:32449613 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2876G>A (p.Gly959Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002890389] |
Chr2:32224672 [GRCh38]
Chr2:32449741 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.374A>G (p.Asp125Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002710295] |
Chr2:32251490 [GRCh38]
Chr2:32476559 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2720C>T (p.Pro907Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002915096]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227850] |
Chr2:32235463 [GRCh38]
Chr2:32460532 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.784G>A (p.Glu262Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002982598] |
Chr2:32251080 [GRCh38]
Chr2:32476149 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.541del (p.Arg181fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003022997] |
Chr2:32251323 [GRCh38]
Chr2:32476392 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1527C>T (p.Leu509=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002595209] |
Chr2:32250337 [GRCh38]
Chr2:32475406 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1364T>G (p.Leu455Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002890871] |
Chr2:32250500 [GRCh38]
Chr2:32475569 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1466G>T (p.Ser489Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003059664] |
Chr2:32250398 [GRCh38]
Chr2:32475467 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2548C>T (p.Leu850=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002625599] |
Chr2:32236313 [GRCh38]
Chr2:32461382 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1003A>C (p.Met335Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002875343] |
Chr2:32250861 [GRCh38]
Chr2:32475930 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2552G>A (p.Ser851Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002575573] |
Chr2:32236309 [GRCh38]
Chr2:32461378 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1664T>C (p.Val555Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003005738] |
Chr2:32250200 [GRCh38]
Chr2:32475269 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.576G>C (p.Lys192Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002700648] |
Chr2:32251288 [GRCh38]
Chr2:32476357 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1558G>A (p.Gly520Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004654020]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002766266] |
Chr2:32250306 [GRCh38]
Chr2:32475375 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.633A>C (p.Gly211=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002575015] |
Chr2:32251231 [GRCh38]
Chr2:32476300 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1809C>T (p.Pro603=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002876046] |
Chr2:32250055 [GRCh38]
Chr2:32475124 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.705G>A (p.Met235Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002939096] |
Chr2:32251159 [GRCh38]
Chr2:32476228 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1739A>C (p.Gln580Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002810857] |
Chr2:32250125 [GRCh38]
Chr2:32475194 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2021A>C (p.Lys674Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002599294] |
Chr2:32249843 [GRCh38]
Chr2:32474912 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1460A>G (p.Tyr487Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003048512] |
Chr2:32250404 [GRCh38]
Chr2:32475473 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2558T>C (p.Leu853Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002674594] |
Chr2:32236303 [GRCh38]
Chr2:32461372 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.862C>T (p.Arg288Trp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002651184] |
Chr2:32251002 [GRCh38]
Chr2:32476071 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1754A>T (p.Tyr585Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002647621] |
Chr2:32250110 [GRCh38]
Chr2:32475179 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1599T>C (p.Ser533=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002716271] |
Chr2:32250265 [GRCh38]
Chr2:32475334 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.713A>G (p.Lys238Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002934266] |
Chr2:32251151 [GRCh38]
Chr2:32476220 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2351-8T>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003029332] |
Chr2:32238310 [GRCh38]
Chr2:32463379 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1835T>C (p.Ile612Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003087677] |
Chr2:32250029 [GRCh38]
Chr2:32475098 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2085G>A (p.Lys695=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002650629] |
Chr2:32249779 [GRCh38]
Chr2:32474848 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1879G>A (p.Ala627Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002988531] |
Chr2:32249985 [GRCh38]
Chr2:32475054 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002920618]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003777948] |
Chr2:32235469 [GRCh38]
Chr2:32460538 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1711C>G (p.Leu571Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003047434] |
Chr2:32250153 [GRCh38]
Chr2:32475222 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.920C>T (p.Ala307Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002579015] |
Chr2:32250944 [GRCh38]
Chr2:32476013 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1509G>A (p.Arg503=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002938005] |
Chr2:32250355 [GRCh38]
Chr2:32475424 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1360A>T (p.Arg454Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002877515] |
Chr2:32250504 [GRCh38]
Chr2:32475573 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1432G>C (p.Val478Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003089690] |
Chr2:32250432 [GRCh38]
Chr2:32475501 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2284T>C (p.Leu762=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002646273] |
Chr2:32241099 [GRCh38]
Chr2:32466168 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1027A>G (p.Ile343Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003008389] |
Chr2:32250837 [GRCh38]
Chr2:32475906 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.153T>C (p.Ala51=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002635077] |
Chr2:32252528 [GRCh38]
Chr2:32477597 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2202T>A (p.Ser734=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003052470] |
Chr2:32249662 [GRCh38]
Chr2:32474731 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.301T>C (p.Leu101=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002583245] |
Chr2:32251563 [GRCh38]
Chr2:32476632 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.833C>T (p.Thr278Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003066618] |
Chr2:32251031 [GRCh38]
Chr2:32476100 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1203_1204del (p.Phe402fs) |
microsatellite |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002604608] |
Chr2:32250660..32250661 [GRCh38]
Chr2:32475729..32475730 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2350+15C>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003066158] |
Chr2:32241018 [GRCh38]
Chr2:32466087 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1699T>C (p.Ser567Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002814725] |
Chr2:32250165 [GRCh38]
Chr2:32475234 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.307C>T (p.Gln103Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002585855] |
Chr2:32251557 [GRCh38]
Chr2:32476626 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.415C>T (p.Leu139=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003072924] |
Chr2:32251449 [GRCh38]
Chr2:32476518 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2089T>A (p.Cys697Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002586195] |
Chr2:32249775 [GRCh38]
Chr2:32474844 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.241T>C (p.Phe81Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003072205] |
Chr2:32252440 [GRCh38]
Chr2:32477509 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.679A>G (p.Ile227Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003071168] |
Chr2:32251185 [GRCh38]
Chr2:32476254 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2691C>T (p.Ser897=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003050250] |
Chr2:32235492 [GRCh38]
Chr2:32460561 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2875G>A (p.Gly959Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002610953] |
Chr2:32224673 [GRCh38]
Chr2:32449742 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.645C>T (p.Thr215=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002611089] |
Chr2:32251219 [GRCh38]
Chr2:32476288 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2715G>A (p.Glu905=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002680854] |
Chr2:32235468 [GRCh38]
Chr2:32460537 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.21T>C (p.Asn7=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003070087] |
Chr2:32252660 [GRCh38]
Chr2:32477729 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2318T>C (p.Ile773Thr) |
single nucleotide variant |
not provided [RCV003223019] |
Chr2:32241065 [GRCh38]
Chr2:32466134 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2177T>G (p.Ile726Arg) |
single nucleotide variant |
not provided [RCV003223020] |
Chr2:32249687 [GRCh38]
Chr2:32474756 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1035T>C (p.Cys345=) |
single nucleotide variant |
not provided [RCV003223021] |
Chr2:32250829 [GRCh38]
Chr2:32475898 [GRCh37]
Chr2:2p22.3 |
likely benign |
| GRCh37/hg19 2p22.3(chr2:32466102-32466194)x1 |
copy number loss |
not provided [RCV003223076] |
Chr2:32466102..32466194 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1554T>C (p.Leu518=) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV003140622] |
Chr2:32250310 [GRCh38]
Chr2:32475379 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.805C>T (p.His269Tyr) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV003225840] |
Chr2:32251059 [GRCh38]
Chr2:32476128 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.904G>C (p.Glu302Gln) |
single nucleotide variant |
not provided [RCV003133036] |
Chr2:32250960 [GRCh38]
Chr2:32476029 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1798G>T (p.Glu600Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003778735]|not provided [RCV003133035] |
Chr2:32250066 [GRCh38]
Chr2:32475135 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2350+36dup |
duplication |
not provided [RCV003223018] |
Chr2:32240996..32240997 [GRCh38]
Chr2:32466065..32466066 [GRCh37]
Chr2:2p22.3 |
benign|likely benign |
| NM_001199138.2(NLRC4):c.542G>A (p.Arg181Gln) |
single nucleotide variant |
not provided [RCV003223022] |
Chr2:32251322 [GRCh38]
Chr2:32476391 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1348A>C (p.Thr450Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003208281] |
Chr2:32250516 [GRCh38]
Chr2:32475585 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1807C>T (p.Pro603Ser) |
single nucleotide variant |
not provided [RCV003329836] |
Chr2:32250057 [GRCh38]
Chr2:32475126 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2945C>T (p.Ala982Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005209612]|not provided [RCV003327025] |
Chr2:32224603 [GRCh38]
Chr2:32449672 [GRCh37]
Chr2:2p22.3 |
likely benign|uncertain significance |
| NM_001199138.2(NLRC4):c.1652T>G (p.Ile551Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003357352] |
Chr2:32250212 [GRCh38]
Chr2:32475281 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1561C>T (p.Leu521Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792233] |
Chr2:32250303 [GRCh38]
Chr2:32475372 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p23.1-22.3(chr2:32083215-32684402)x1 |
copy number loss |
not provided [RCV003484627] |
Chr2:32083215..32684402 [GRCh37]
Chr2:2p23.1-22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.430C>G (p.Gln144Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792136] |
Chr2:32251434 [GRCh38]
Chr2:32476503 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.-118-3C>G |
single nucleotide variant |
not provided [RCV003425570] |
Chr2:32256896 [GRCh38]
Chr2:32481965 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.967C>T (p.Leu323Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791429] |
Chr2:32250897 [GRCh38]
Chr2:32475966 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.561C>A (p.Gly187=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003778407]|not provided [RCV003407195] |
Chr2:32251303 [GRCh38]
Chr2:32476372 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2908T>C (p.Phe970Leu) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV003448830] |
Chr2:32224640 [GRCh38]
Chr2:32449709 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2521+12T>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790991] |
Chr2:32238120 [GRCh38]
Chr2:32463189 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1+49A>T |
single nucleotide variant |
not specified [RCV003391181] |
Chr2:32256726 [GRCh38]
Chr2:32481795 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.1902C>G (p.Ile634Met) |
single nucleotide variant |
NLRC4-related disorder [RCV003412031] |
Chr2:32249962 [GRCh38]
Chr2:32475031 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.995G>C (p.Arg332Thr) |
single nucleotide variant |
not provided [RCV003425569] |
Chr2:32250869 [GRCh38]
Chr2:32475938 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2000G>A (p.Arg667Gln) |
single nucleotide variant |
NLRC4-related disorder [RCV003402839] |
Chr2:32249864 [GRCh38]
Chr2:32474933 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1171G>A (p.Asp391Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797414] |
Chr2:32250693 [GRCh38]
Chr2:32475762 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1245C>T (p.Ser415=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781910] |
Chr2:32250619 [GRCh38]
Chr2:32475688 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1512T>C (p.Ala504=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795065] |
Chr2:32250352 [GRCh38]
Chr2:32475421 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2325G>C (p.Met775Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807910] |
Chr2:32241058 [GRCh38]
Chr2:32466127 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2474T>G (p.Ile825Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781954] |
Chr2:32238179 [GRCh38]
Chr2:32463248 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2939A>T (p.Asp980Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797470] |
Chr2:32224609 [GRCh38]
Chr2:32449678 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1244G>C (p.Ser415Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792390] |
Chr2:32250620 [GRCh38]
Chr2:32475689 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2658G>A (p.Leu886=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797618] |
Chr2:32235525 [GRCh38]
Chr2:32460594 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1798del (p.Glu600fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785047] |
Chr2:32250066 [GRCh38]
Chr2:32475135 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2496G>A (p.Leu832=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003806562] |
Chr2:32238157 [GRCh38]
Chr2:32463226 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2656_2657delinsGG (p.Leu886Gly) |
indel |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797748] |
Chr2:32235526..32235527 [GRCh38]
Chr2:32460595..32460596 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2375A>T (p.Lys792Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782475] |
Chr2:32238278 [GRCh38]
Chr2:32463347 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.416T>C (p.Leu139Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782556] |
Chr2:32251448 [GRCh38]
Chr2:32476517 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1680T>G (p.His560Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792902] |
Chr2:32250184 [GRCh38]
Chr2:32475253 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.263-3T>C |
single nucleotide variant |
not specified [RCV003490844] |
Chr2:32251604 [GRCh38]
Chr2:32476673 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1384C>T (p.His462Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797356] |
Chr2:32250480 [GRCh38]
Chr2:32475549 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1257T>A (p.Asp419Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792927] |
Chr2:32250607 [GRCh38]
Chr2:32475676 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.569A>G (p.Lys190Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805694] |
Chr2:32251295 [GRCh38]
Chr2:32476364 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.189A>C (p.Ser63=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785461] |
Chr2:32252492 [GRCh38]
Chr2:32477561 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1758_1759insGGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATATC (p.Asn587fs) |
insertion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807735] |
Chr2:32250105..32250106 [GRCh38]
Chr2:32475174..32475175 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1252G>A (p.Glu418Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003796964] |
Chr2:32250612 [GRCh38]
Chr2:32475681 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.608T>A (p.Leu203His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807071] |
Chr2:32251256 [GRCh38]
Chr2:32476325 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2672A>C (p.Asp891Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004953548]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807881] |
Chr2:32235511 [GRCh38]
Chr2:32460580 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2309T>G (p.Met770Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808024] |
Chr2:32241074 [GRCh38]
Chr2:32466143 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2126G>A (p.Ser709Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807667] |
Chr2:32249738 [GRCh38]
Chr2:32474807 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1128C>G (p.His376Gln) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003784596] |
Chr2:32250736 [GRCh38]
Chr2:32475805 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1895G>A (p.Gly632Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805810] |
Chr2:32249969 [GRCh38]
Chr2:32475038 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2772T>C (p.Ile924=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790267] |
Chr2:32235411 [GRCh38]
Chr2:32460480 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2615-20C>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794347] |
Chr2:32235588 [GRCh38]
Chr2:32460657 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.585C>G (p.Thr195=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795694] |
Chr2:32251279 [GRCh38]
Chr2:32476348 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1952T>C (p.Leu651Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003804510] |
Chr2:32249912 [GRCh38]
Chr2:32474981 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2351C>G (p.Ala784Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805319] |
Chr2:32238302 [GRCh38]
Chr2:32463371 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2842C>T (p.Arg948Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791282] |
Chr2:32224706 [GRCh38]
Chr2:32449775 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2616C>A (p.Ile872=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795141] |
Chr2:32235567 [GRCh38]
Chr2:32460636 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2688G>A (p.Leu896=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003793218] |
Chr2:32235495 [GRCh38]
Chr2:32460564 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1149A>C (p.Ala383=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805739] |
Chr2:32250715 [GRCh38]
Chr2:32475784 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.852G>A (p.Leu284=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791544] |
Chr2:32251012 [GRCh38]
Chr2:32476081 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1098C>T (p.Phe366=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003806923] |
Chr2:32250766 [GRCh38]
Chr2:32475835 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2600C>T (p.Ala867Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003804963] |
Chr2:32236261 [GRCh38]
Chr2:32461330 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1812T>G (p.Asn604Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794136] |
Chr2:32250052 [GRCh38]
Chr2:32475121 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.128G>A (p.Cys43Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004953535]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795443] |
Chr2:32252553 [GRCh38]
Chr2:32477622 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2522-11T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003788642] |
Chr2:32236350 [GRCh38]
Chr2:32461419 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2614+7A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003780027] |
Chr2:32236240 [GRCh38]
Chr2:32461309 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.459C>T (p.Thr153=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797241] |
Chr2:32251405 [GRCh38]
Chr2:32476474 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2302C>T (p.Leu768Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003789436] |
Chr2:32241081 [GRCh38]
Chr2:32466150 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2258-5G>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795122] |
Chr2:32241130 [GRCh38]
Chr2:32466199 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2782+18G>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797042] |
Chr2:32235383 [GRCh38]
Chr2:32460452 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2200T>C (p.Ser734Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782561] |
Chr2:32249664 [GRCh38]
Chr2:32474733 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.182del (p.Lys61fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003780151] |
Chr2:32252499 [GRCh38]
Chr2:32477568 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2900T>C (p.Leu967Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791110] |
Chr2:32224648 [GRCh38]
Chr2:32449717 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2782+9A>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003793066] |
Chr2:32235392 [GRCh38]
Chr2:32460461 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1706C>T (p.Ser569Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794732] |
Chr2:32250158 [GRCh38]
Chr2:32475227 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2826G>C (p.Leu942Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790205] |
Chr2:32224722 [GRCh38]
Chr2:32449791 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1874A>G (p.Glu625Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003788130] |
Chr2:32249990 [GRCh38]
Chr2:32475059 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.893G>A (p.Gly298Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797129] |
Chr2:32250971 [GRCh38]
Chr2:32476040 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2030T>A (p.Ile677Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004654333]|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003783080] |
Chr2:32249834 [GRCh38]
Chr2:32474903 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2359C>G (p.Leu787Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792003] |
Chr2:32238294 [GRCh38]
Chr2:32463363 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1170G>A (p.Leu390=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781031] |
Chr2:32250694 [GRCh38]
Chr2:32475763 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1610T>C (p.Val537Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794424] |
Chr2:32250254 [GRCh38]
Chr2:32475323 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.380T>A (p.Ile127Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785096] |
Chr2:32251484 [GRCh38]
Chr2:32476553 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.456G>A (p.Leu152=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003796705] |
Chr2:32251408 [GRCh38]
Chr2:32476477 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2828A>G (p.Asn943Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794522] |
Chr2:32224720 [GRCh38]
Chr2:32449789 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1573A>G (p.Lys525Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781765] |
Chr2:32250291 [GRCh38]
Chr2:32475360 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1536G>C (p.Val512=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791318] |
Chr2:32250328 [GRCh38]
Chr2:32475397 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1685A>G (p.Tyr562Cys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003787343] |
Chr2:32250179 [GRCh38]
Chr2:32475248 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2313T>C (p.Asp771=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003783431] |
Chr2:32241070 [GRCh38]
Chr2:32466139 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2886G>A (p.Glu962=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003784078] |
Chr2:32224662 [GRCh38]
Chr2:32449731 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.730C>A (p.Leu244Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792219] |
Chr2:32251134 [GRCh38]
Chr2:32476203 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2334A>T (p.Glu778Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782090] |
Chr2:32241049 [GRCh38]
Chr2:32466118 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.768G>A (p.Gln256=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790666] |
Chr2:32251096 [GRCh38]
Chr2:32476165 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1541A>C (p.Gln514Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003779451] |
Chr2:32250323 [GRCh38]
Chr2:32475392 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1031C>T (p.Thr344Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813274] |
Chr2:32250833 [GRCh38]
Chr2:32475902 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.263-19A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798793] |
Chr2:32251620 [GRCh38]
Chr2:32476689 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1944T>C (p.Ala648=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812569] |
Chr2:32249920 [GRCh38]
Chr2:32474989 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.318G>C (p.Lys106Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812573] |
Chr2:32251546 [GRCh38]
Chr2:32476615 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.52A>G (p.Thr18Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801049] |
Chr2:32252629 [GRCh38]
Chr2:32477698 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1067C>T (p.Ser356Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801193] |
Chr2:32250797 [GRCh38]
Chr2:32475866 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.262+10A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798076] |
Chr2:32252409 [GRCh38]
Chr2:32477478 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.265del (p.Leu89fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800352] |
Chr2:32251599 [GRCh38]
Chr2:32476668 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.745G>A (p.Gly249Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813394] |
Chr2:32251119 [GRCh38]
Chr2:32476188 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1543C>T (p.His515Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800792] |
Chr2:32250321 [GRCh38]
Chr2:32475390 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1575G>T (p.Lys525Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809836] |
Chr2:32250289 [GRCh38]
Chr2:32475358 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2615T>A (p.Ile872Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808886] |
Chr2:32235568 [GRCh38]
Chr2:32460637 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2602C>T (p.Leu868Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800515] |
Chr2:32236259 [GRCh38]
Chr2:32461328 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1777G>A (p.Asp593Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798412] |
Chr2:32250087 [GRCh38]
Chr2:32475156 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2765_2766del (p.Thr922fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799579] |
Chr2:32235417..32235418 [GRCh38]
Chr2:32460486..32460487 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2035T>C (p.Tyr679His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799628] |
Chr2:32249829 [GRCh38]
Chr2:32474898 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.331A>T (p.Thr111Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812772] |
Chr2:32251533 [GRCh38]
Chr2:32476602 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2669G>A (p.Cys890Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808908] |
Chr2:32235514 [GRCh38]
Chr2:32460583 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1331A>G (p.Lys444Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809446] |
Chr2:32250533 [GRCh38]
Chr2:32475602 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2043G>A (p.Gly681=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809520] |
Chr2:32249821 [GRCh38]
Chr2:32474890 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1212C>G (p.His404Gln) |
single nucleotide variant |
Familial cold autoinflammatory syndrome 4 [RCV004577134] |
Chr2:32250652 [GRCh38]
Chr2:32475721 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.337T>C (p.Ser113Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797996] |
Chr2:32251527 [GRCh38]
Chr2:32476596 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1047G>A (p.Met349Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801679] |
Chr2:32250817 [GRCh38]
Chr2:32475886 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1925C>A (p.Thr642Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801682] |
Chr2:32249939 [GRCh38]
Chr2:32475008 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1444G>C (p.Asp482His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813271] |
Chr2:32250420 [GRCh38]
Chr2:32475489 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1982C>T (p.Thr661Ile) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003817721] |
Chr2:32249882 [GRCh38]
Chr2:32474951 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1155C>T (p.Asp385=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003815201] |
Chr2:32250709 [GRCh38]
Chr2:32475778 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2351-18C>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799228] |
Chr2:32238320 [GRCh38]
Chr2:32463389 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.825C>A (p.Val275=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808431] |
Chr2:32251039 [GRCh38]
Chr2:32476108 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1933C>T (p.Pro645Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801620] |
Chr2:32249931 [GRCh38]
Chr2:32475000 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3070G>A (p.Ala1024Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800544] |
Chr2:32224478 [GRCh38]
Chr2:32449547 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.292T>G (p.Leu98Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800633] |
Chr2:32251572 [GRCh38]
Chr2:32476641 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2783-13T>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003815723] |
Chr2:32224778 [GRCh38]
Chr2:32449847 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2351-11T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798714] |
Chr2:32238313 [GRCh38]
Chr2:32463382 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.515G>A (p.Gly172Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813565] |
Chr2:32251349 [GRCh38]
Chr2:32476418 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.817A>T (p.Asn273Tyr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800973] |
Chr2:32251047 [GRCh38]
Chr2:32476116 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.489C>G (p.Ser163Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808063] |
Chr2:32251375 [GRCh38]
Chr2:32476444 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2064A>G (p.Thr688=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800052] |
Chr2:32249800 [GRCh38]
Chr2:32474869 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2617G>A (p.Asp873Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808492] |
Chr2:32235566 [GRCh38]
Chr2:32460635 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3026A>G (p.Asp1009Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799621] |
Chr2:32224522 [GRCh38]
Chr2:32449591 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1625A>G (p.Glu542Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799257] |
Chr2:32250239 [GRCh38]
Chr2:32475308 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.944A>T (p.Lys315Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813686] |
Chr2:32250920 [GRCh38]
Chr2:32475989 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.263-11T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798157] |
Chr2:32251612 [GRCh38]
Chr2:32476681 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2756T>A (p.Leu919His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802095] |
Chr2:32235427 [GRCh38]
Chr2:32460496 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.591C>T (p.Phe197=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003803386] |
Chr2:32251273 [GRCh38]
Chr2:32476342 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2111T>C (p.Leu704Pro) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802646] |
Chr2:32249753 [GRCh38]
Chr2:32474822 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1 |
copy number loss |
not specified [RCV003986336] |
Chr2:32437298..34106470 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1 |
copy number loss |
not specified [RCV003986376] |
Chr2:30814984..42798684 [GRCh37]
Chr2:2p23.1-21 |
pathogenic |
| NM_001199138.2(NLRC4):c.1608T>C (p.Ser536=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802919] |
Chr2:32250256 [GRCh38]
Chr2:32475325 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2105G>A (p.Gly702Glu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802925] |
Chr2:32249759 [GRCh38]
Chr2:32474828 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 |
copy number gain |
See cases [RCV004442780] |
Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_001199138.2(NLRC4):c.2949A>C (p.Leu983Phe) |
single nucleotide variant |
NLRC4-related disorder [RCV003982571] |
Chr2:32224599 [GRCh38]
Chr2:32449668 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2457C>G (p.Pro819=) |
single nucleotide variant |
not provided [RCV003887046] |
Chr2:32238196 [GRCh38]
Chr2:32463265 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1273G>A (p.Gly425Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004493382] |
Chr2:32250591 [GRCh38]
Chr2:32475660 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2629G>T (p.Val877Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004493386] |
Chr2:32235554 [GRCh38]
Chr2:32460623 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2657T>G (p.Leu886Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004493388] |
Chr2:32235526 [GRCh38]
Chr2:32460595 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2501C>A (p.Ala834Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004493385] |
Chr2:32238152 [GRCh38]
Chr2:32463221 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2656C>G (p.Leu886Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004493387] |
Chr2:32235527 [GRCh38]
Chr2:32460596 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1442C>T (p.Ser481Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004493383] |
Chr2:32250422 [GRCh38]
Chr2:32475491 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2278G>T (p.Gly760Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004493384] |
Chr2:32241105 [GRCh38]
Chr2:32466174 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.597C>G (p.Phe199Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004493389] |
Chr2:32251267 [GRCh38]
Chr2:32476336 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1790A>G (p.Asp597Gly) |
single nucleotide variant |
not specified [RCV003994811] |
Chr2:32250074 [GRCh38]
Chr2:32475143 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.390del (p.Ser132fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004560171] |
Chr2:32251474 [GRCh38]
Chr2:32476543 [GRCh37]
Chr2:2p22.3 |
likely pathogenic |
| NM_001199138.2(NLRC4):c.2846T>C (p.Val949Ala) |
single nucleotide variant |
not provided [RCV004590883] |
Chr2:32224702 [GRCh38]
Chr2:32449771 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.371T>A (p.Ile124Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004643796] |
Chr2:32251493 [GRCh38]
Chr2:32476562 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_32460450)_(32460657_?)del |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004583688] |
Chr2:32460450..32460657 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NC_000002.11:g.(?_32288901)_(32449854_?)del |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004583689] |
Chr2:32288901..32449854 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.994A>G (p.Arg332Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004647300] |
Chr2:32250870 [GRCh38]
Chr2:32475939 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.148G>T (p.Ala50Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004647301] |
Chr2:32252533 [GRCh38]
Chr2:32477602 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.113T>G (p.Val38Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004647302] |
Chr2:32252568 [GRCh38]
Chr2:32477637 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2173A>C (p.Thr725Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004643797] |
Chr2:32249691 [GRCh38]
Chr2:32474760 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.845A>G (p.Glu282Gly) |
single nucleotide variant |
NLRC4-related disorder [RCV004749012] |
Chr2:32251019 [GRCh38]
Chr2:32476088 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1025T>G (p.Val342Gly) |
single nucleotide variant |
not provided [RCV004795005] |
Chr2:32250839 [GRCh38]
Chr2:32475908 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.*13C>G |
single nucleotide variant |
not specified [RCV004703149] |
Chr2:32224460 [GRCh38]
Chr2:32449529 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1190C>G (p.Ala397Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004961821] |
Chr2:32250674 [GRCh38]
Chr2:32475743 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2507C>T (p.Ala836Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004961819] |
Chr2:32238146 [GRCh38]
Chr2:32463215 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1693A>G (p.Ser565Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004961820] |
Chr2:32250171 [GRCh38]
Chr2:32475240 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.868T>A (p.Phe290Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004961822] |
Chr2:32250996 [GRCh38]
Chr2:32476065 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| GRCh37/hg19 2p24.1-22.2(chr2:20938401-37327210)x3 |
copy number gain |
not provided [RCV004819299] |
Chr2:20938401..37327210 [GRCh37]
Chr2:2p24.1-22.2 |
pathogenic |
| NM_001199138.2(NLRC4):c.2783-14dup |
duplication |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005229196] |
Chr2:32224778..32224779 [GRCh38]
Chr2:32449847..32449848 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.969C>T (p.Leu323=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214894] |
Chr2:32250895 [GRCh38]
Chr2:32475964 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.28G>T (p.Ala10Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214858] |
Chr2:32252653 [GRCh38]
Chr2:32477722 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.658C>G (p.Leu220Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212999] |
Chr2:32251206 [GRCh38]
Chr2:32476275 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2673C>T (p.Asp891=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214926] |
Chr2:32235510 [GRCh38]
Chr2:32460579 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.1276C>T (p.Leu426Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213174] |
Chr2:32250588 [GRCh38]
Chr2:32475657 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2258-11T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225736] |
Chr2:32241136 [GRCh38]
Chr2:32466205 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.594A>G (p.Lys198=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005215262] |
Chr2:32251270 [GRCh38]
Chr2:32476339 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1320A>G (p.Lys440=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211177] |
Chr2:32250544 [GRCh38]
Chr2:32475613 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2521+1G>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214103] |
Chr2:32238131 [GRCh38]
Chr2:32463200 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.703A>G (p.Met235Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210687] |
Chr2:32251161 [GRCh38]
Chr2:32476230 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1104T>C (p.Asp368=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211046] |
Chr2:32250760 [GRCh38]
Chr2:32475829 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2351-8T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005226237] |
Chr2:32238310 [GRCh38]
Chr2:32463379 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.134A>T (p.Lys45Met) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211180] |
Chr2:32252547 [GRCh38]
Chr2:32477616 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1939del (p.Arg647fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211226] |
Chr2:32249925 [GRCh38]
Chr2:32474994 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2782+16C>T |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210455] |
Chr2:32235385 [GRCh38]
Chr2:32460454 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1082C>A (p.Thr361Lys) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212561] |
Chr2:32250782 [GRCh38]
Chr2:32475851 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1915G>T (p.Ala639Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210700] |
Chr2:32249949 [GRCh38]
Chr2:32475018 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.92A>G (p.Asn31Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210791] |
Chr2:32252589 [GRCh38]
Chr2:32477658 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1015del (p.Leu339fs) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005226158] |
Chr2:32250849 [GRCh38]
Chr2:32475918 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.49A>G (p.Met17Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210532] |
Chr2:32252632 [GRCh38]
Chr2:32477701 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.414C>T (p.Val138=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212762] |
Chr2:32251450 [GRCh38]
Chr2:32476519 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2783-20A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214146] |
Chr2:32224785 [GRCh38]
Chr2:32449854 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.235C>T (p.Pro79Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211085] |
Chr2:32252446 [GRCh38]
Chr2:32477515 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.548C>A (p.Ala183Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213146] |
Chr2:32251316 [GRCh38]
Chr2:32476385 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.905A>C (p.Glu302Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213751] |
Chr2:32250959 [GRCh38]
Chr2:32476028 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2614+15T>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005229179] |
Chr2:32236232 [GRCh38]
Chr2:32461301 [GRCh37]
Chr2:2p22.3 |
benign |
| NM_001199138.2(NLRC4):c.2257+1G>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213814] |
Chr2:32249606 [GRCh38]
Chr2:32474675 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2372AGA[1] (p.Lys792del) |
microsatellite |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212475] |
Chr2:32238276..32238278 [GRCh38]
Chr2:32463345..32463347 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2856T>C (p.Asp952=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227141] |
Chr2:32224692 [GRCh38]
Chr2:32449761 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2096G>C (p.Gly699Ala) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210184] |
Chr2:32249768 [GRCh38]
Chr2:32474837 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2568A>G (p.Ser856=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210100] |
Chr2:32236293 [GRCh38]
Chr2:32461362 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2336A>T (p.Asp779Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212489] |
Chr2:32241047 [GRCh38]
Chr2:32466116 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.151G>A (p.Ala51Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218009] |
Chr2:32252530 [GRCh38]
Chr2:32477599 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1597_1605del (p.Leu534_Ser536del) |
deletion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218991] |
Chr2:32250259..32250267 [GRCh38]
Chr2:32475328..32475336 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.639T>G (p.Phe213Leu) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220486] |
Chr2:32251225 [GRCh38]
Chr2:32476294 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.525G>A (p.Lys175=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219553] |
Chr2:32251339 [GRCh38]
Chr2:32476408 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2205A>T (p.Val735=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218739] |
Chr2:32249659 [GRCh38]
Chr2:32474728 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2926G>T (p.Glu976Ter) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224289] |
Chr2:32224622 [GRCh38]
Chr2:32449691 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2969T>G (p.Val990Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216613] |
Chr2:32224579 [GRCh38]
Chr2:32449648 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1596A>G (p.Glu532=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218992] |
Chr2:32250268 [GRCh38]
Chr2:32475337 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.488G>A (p.Ser163Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217845] |
Chr2:32251376 [GRCh38]
Chr2:32476445 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1852G>T (p.Gly618Trp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220588] |
Chr2:32250012 [GRCh38]
Chr2:32475081 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1481C>G (p.Thr494Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216872] |
Chr2:32250383 [GRCh38]
Chr2:32475452 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1260C>T (p.Val420=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224380] |
Chr2:32250604 [GRCh38]
Chr2:32475673 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2350+15C>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222429] |
Chr2:32241018 [GRCh38]
Chr2:32466087 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2323A>G (p.Met775Val) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220662] |
Chr2:32241060 [GRCh38]
Chr2:32466129 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2351-12A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219236] |
Chr2:32238314 [GRCh38]
Chr2:32463383 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2782+13A>G |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224738] |
Chr2:32235388 [GRCh38]
Chr2:32460457 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2257+2T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222480] |
Chr2:32249605 [GRCh38]
Chr2:32474674 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1206C>T (p.Phe402=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220323] |
Chr2:32250658 [GRCh38]
Chr2:32475727 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.1849T>C (p.Tyr617His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219298] |
Chr2:32250015 [GRCh38]
Chr2:32475084 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.953C>A (p.Ala318Asp) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218136] |
Chr2:32250911 [GRCh38]
Chr2:32475980 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.731_732insCC (p.Phe245fs) |
insertion |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220366] |
Chr2:32251132..32251133 [GRCh38]
Chr2:32476201..32476202 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.730C>T (p.Leu244Phe) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220367] |
Chr2:32251134 [GRCh38]
Chr2:32476203 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2744A>G (p.Lys915Arg) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218158] |
Chr2:32235439 [GRCh38]
Chr2:32460508 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1577G>C (p.Arg526Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216459] |
Chr2:32250287 [GRCh38]
Chr2:32475356 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.334C>T (p.Pro112Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220512] |
Chr2:32251530 [GRCh38]
Chr2:32476599 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1019T>C (p.Phe340Ser) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219534] |
Chr2:32250845 [GRCh38]
Chr2:32475914 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2774G>C (p.Arg925Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217351] |
Chr2:32235409 [GRCh38]
Chr2:32460478 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.762G>T (p.Lys254Asn) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219654] |
Chr2:32251102 [GRCh38]
Chr2:32476171 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.910A>G (p.Ser304Gly) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224524] |
Chr2:32250954 [GRCh38]
Chr2:32476023 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.3025G>C (p.Asp1009His) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219748] |
Chr2:32224523 [GRCh38]
Chr2:32449592 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.2-4T>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005223945] |
Chr2:32252683 [GRCh38]
Chr2:32477752 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2257+15A>C |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217353] |
Chr2:32249592 [GRCh38]
Chr2:32474661 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.3002G>C (p.Arg1001Thr) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222217] |
Chr2:32224546 [GRCh38]
Chr2:32449615 [GRCh37]
Chr2:2p22.3 |
uncertain significance |
| NM_001199138.2(NLRC4):c.1179T>C (p.Cys393=) |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005221406] |
Chr2:32250685 [GRCh38]
Chr2:32475754 [GRCh37]
Chr2:2p22.3 |
likely benign |
| NM_001199138.2(NLRC4):c.2257+16G>A |
single nucleotide variant |
Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216848] |
Chr2:32249591 [GRCh38]
Chr2:32474660 [GRCh37]
Chr2:2p22.3 |
likely benign |
