NM_001347928.2(IRF5):c.-12+596GCGGG[4] |
microsatellite |
Inflammatory bowel disease 14, susceptibility to [RCV000003562]|Systemic lupus erythematosus, susceptibility to, 10 [RCV000003563] |
Chr7:128937860..128937861 [GRCh38] Chr7:128577914..128577915 [GRCh37] Chr7:7q32.1 |
risk factor |
NM_001098629.3(IRF5):c.-12+198= |
single nucleotide variant |
Rheumatoid arthritis [RCV000003565]|Systemic lupus erythematosus, susceptibility to, 10 [RCV000003564] |
Chr7:128938247 [GRCh38] Chr7:128578301 [GRCh37] Chr7:7q32.1 |
pathogenic|risk factor|association |
NM_001098629.3(IRF5):c.*555G>A |
single nucleotide variant |
Systemic lupus erythematosus, susceptibility to, 10 [RCV000003566] |
Chr7:128949373 [GRCh38] Chr7:128949373..128949374 [GRCh38] Chr7:128589427 [GRCh37] Chr7:128589427..128589428 [GRCh37] Chr7:7q32.1 |
risk factor |
NM_001098629.3(IRF5):c.*128T>C |
single nucleotide variant |
Systemic lupus erythematosus, association with susceptibility to, 10 [RCV000003567] |
Chr7:128948946 [GRCh38] Chr7:128948946..128948947 [GRCh38] Chr7:128589000 [GRCh37] Chr7:128589000..128589001 [GRCh37] Chr7:7q32.1 |
risk factor |
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 |
copy number gain |
See cases [RCV000051072] |
Chr7:128747478..134018250 [GRCh38] Chr7:128387532..133703003 [GRCh37] Chr7:128174768..133353543 [NCBI36] Chr7:7q32.1-33 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 |
copy number loss |
See cases [RCV000052250] |
Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 |
copy number loss |
See cases [RCV000054171] |
Chr7:126859732..132750936 [GRCh38] Chr7:126499786..132435696 [GRCh37] Chr7:126287022..132086236 [NCBI36] Chr7:7q31.33-32.3 |
pathogenic |
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 |
copy number loss |
See cases [RCV000135401] |
Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 |
copy number gain |
See cases [RCV000136717] |
Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3 |
pathogenic |
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 |
copy number loss |
See cases [RCV000138226] |
Chr7:117326805..134790689 [GRCh38] Chr7:116966859..134475440 [GRCh37] Chr7:116754095..134125980 [NCBI36] Chr7:7q31.2-33 |
pathogenic |
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 |
copy number gain |
See cases [RCV000138847] |
Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3 |
pathogenic |
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 |
copy number gain |
See cases [RCV000141413] |
Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3 |
pathogenic |
GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3 |
copy number gain |
See cases [RCV000142106] |
Chr7:127817826..129237503 [GRCh38] Chr7:127457880..128877344 [GRCh37] Chr7:127245116..128664580 [NCBI36] Chr7:7q32.1 |
likely benign|uncertain significance |
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 |
copy number loss |
See cases [RCV000142552] |
Chr7:124170657..134163594 [GRCh38] Chr7:123810711..133848346 [GRCh37] Chr7:123597947..133498886 [NCBI36] Chr7:7q31.33-33 |
pathogenic |
TMEM106B-BRAF fusion |
deletion |
Pleomorphic xanthoastrocytoma [RCV000454357] |
Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 |
copy number loss |
See cases [RCV000446044] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 |
copy number gain |
See cases [RCV000447709] |
Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 |
copy number loss |
See cases [RCV000447722] |
Chr7:127295698..139524358 [GRCh37] Chr7:7q32.1-34 |
pathogenic |
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 |
copy number gain |
See cases [RCV000447956] |
Chr7:128276078..159119707 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) |
copy number gain |
See cases [RCV000510686] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 |
copy number gain |
See cases [RCV000511549] |
Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_001098629.3(IRF5):c.1265G>A (p.Arg422His) |
single nucleotide variant |
not specified [RCV004313648] |
Chr7:128948294 [GRCh38] Chr7:128588348 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.494C>T (p.Ser165Phe) |
single nucleotide variant |
not specified [RCV004310172] |
Chr7:128947242 [GRCh38] Chr7:128587296 [GRCh37] Chr7:7q32.1 |
uncertain significance |
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 |
copy number gain |
not provided [RCV000682911] |
Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 |
copy number gain |
not provided [RCV000746280] |
Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 |
copy number gain |
not provided [RCV000746278] |
Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q32.1(chr7:128542838-128817136)x3 |
copy number gain |
not provided [RCV000747045] |
Chr7:128542838..128817136 [GRCh37] Chr7:7q32.1 |
benign |
NM_001098629.3(IRF5):c.249G>A (p.Pro83=) |
single nucleotide variant |
not provided [RCV000905998] |
Chr7:128945898 [GRCh38] Chr7:128585952 [GRCh37] Chr7:7q32.1 |
benign |
NM_001098629.3(IRF5):c.1504G>A (p.Gly502Ser) |
single nucleotide variant |
not provided [RCV000970179] |
Chr7:128948777 [GRCh38] Chr7:128588831 [GRCh37] Chr7:7q32.1 |
likely benign |
NM_001098629.3(IRF5):c.572_601del (p.Arg191_Leu200del) |
deletion |
not provided [RCV000947069] |
Chr7:128947298..128947327 [GRCh38] Chr7:128587352..128587381 [GRCh37] Chr7:7q32.1 |
benign |
NM_001098629.3(IRF5):c.303C>T (p.Arg101=) |
single nucleotide variant |
not provided [RCV000927133] |
Chr7:128945952 [GRCh38] Chr7:128586006 [GRCh37] Chr7:7q32.1 |
likely benign |
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 |
copy number gain |
not provided [RCV000848126] |
Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
NM_001098629.3(IRF5):c.447G>A (p.Glu149=) |
single nucleotide variant |
not provided [RCV000881012] |
Chr7:128946562 [GRCh38] Chr7:128586616 [GRCh37] Chr7:7q32.1 |
benign |
NM_001098629.3(IRF5):c.729G>A (p.Leu243=) |
single nucleotide variant |
not provided [RCV000895015] |
Chr7:128947477 [GRCh38] Chr7:128587531 [GRCh37] Chr7:7q32.1 |
likely benign |
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) |
copy number gain |
not provided [RCV000767558] |
Chr7:128312450..159119220 [GRCh37] Chr7:7q32.1-36.3 |
pathogenic |
NM_001098629.3(IRF5):c.576G>A (p.Pro192=) |
single nucleotide variant |
not provided [RCV000893678] |
Chr7:128947324 [GRCh38] Chr7:128587378 [GRCh37] Chr7:7q32.1 |
benign |
GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1 |
copy number loss |
not provided [RCV000847911] |
Chr7:121480906..129389003 [GRCh37] Chr7:7q31.32-32.2 |
pathogenic |
NM_001098629.3(IRF5):c.226G>A (p.Glu76Lys) |
single nucleotide variant |
not specified [RCV004300540] |
Chr7:128945875 [GRCh38] Chr7:128585929 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1050T>G (p.Leu350=) |
single nucleotide variant |
not provided [RCV000953256] |
Chr7:128947991 [GRCh38] Chr7:128588045 [GRCh37] Chr7:7q32.1 |
benign|likely benign |
NM_001098629.3(IRF5):c.354C>T (p.Tyr118=) |
single nucleotide variant |
not provided [RCV000890511] |
Chr7:128946003 [GRCh38] Chr7:128586057 [GRCh37] Chr7:7q32.1 |
likely benign |
NM_001098629.3(IRF5):c.-12+1563G>A |
single nucleotide variant |
not provided [RCV001669876] |
Chr7:128939612 [GRCh38] Chr7:128579666 [GRCh37] Chr7:7q32.1 |
benign |
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 |
copy number gain |
not provided [RCV001005994] |
Chr7:109251060..159119707 [GRCh37] Chr7:7q31.1-36.3 |
pathogenic |
Single allele |
complex |
Ring chromosome 7 [RCV002280646] |
Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3 |
pathogenic |
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) |
copy number loss |
not specified [RCV002053726] |
Chr7:124103982..134693590 [GRCh37] Chr7:7q31.33-33 |
pathogenic |
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) |
copy number loss |
not specified [RCV002053727] |
Chr7:127295698..139524358 [GRCh37] Chr7:7q32.1-34 |
pathogenic |
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) |
copy number gain |
not specified [RCV002053715] |
Chr7:106984287..128949489 [GRCh37] Chr7:7q22.3-32.1 |
pathogenic |
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) |
copy number loss |
not specified [RCV002053723] |
Chr7:123967475..132729981 [GRCh37] Chr7:7q31.33-33 |
pathogenic |
NC_000007.13:g.(?_128470692)_(128694824_?)dup |
duplication |
Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001879723]|Myofibrillar myopathy 5 [RCV001902472] |
Chr7:128470692..128694824 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1373G>A (p.Arg458Gln) |
single nucleotide variant |
not provided [RCV002223670]|not specified [RCV004047226] |
Chr7:128948646 [GRCh38] Chr7:128588700 [GRCh37] Chr7:7q32.1 |
uncertain significance |
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 |
copy number loss |
See cases [RCV002287832] |
Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3 |
uncertain significance |
NM_001098629.3(IRF5):c.1021C>A (p.Leu341Ile) |
single nucleotide variant |
not specified [RCV004130482] |
Chr7:128947962 [GRCh38] Chr7:128588016 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.897G>C (p.Gln299His) |
single nucleotide variant |
not specified [RCV004100757] |
Chr7:128947838 [GRCh38] Chr7:128587892 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.605C>T (p.Pro202Leu) |
single nucleotide variant |
not specified [RCV004093112] |
Chr7:128947353 [GRCh38] Chr7:128587407 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.863G>A (p.Cys288Tyr) |
single nucleotide variant |
not specified [RCV004129739] |
Chr7:128947804 [GRCh38] Chr7:128587858 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1047C>A (p.Asp349Glu) |
single nucleotide variant |
not specified [RCV004146604] |
Chr7:128947988 [GRCh38] Chr7:128588042 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.421G>A (p.Gly141Arg) |
single nucleotide variant |
not specified [RCV004085244] |
Chr7:128946536 [GRCh38] Chr7:128586590 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1090G>A (p.Gly364Arg) |
single nucleotide variant |
not specified [RCV004117239] |
Chr7:128948031 [GRCh38] Chr7:128588085 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.16C>G (p.Pro6Ala) |
single nucleotide variant |
not specified [RCV004197439] |
Chr7:128942097 [GRCh38] Chr7:128582151 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1109A>G (p.His370Arg) |
single nucleotide variant |
not specified [RCV004123198] |
Chr7:128948050 [GRCh38] Chr7:128588104 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.44T>G (p.Val15Gly) |
single nucleotide variant |
not specified [RCV004231378] |
Chr7:128942125 [GRCh38] Chr7:128582179 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1113C>G (p.Asp371Glu) |
single nucleotide variant |
not specified [RCV004228897] |
Chr7:128948054 [GRCh38] Chr7:128588108 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1113C>A (p.Asp371Glu) |
single nucleotide variant |
not specified [RCV004178383] |
Chr7:128948054 [GRCh38] Chr7:128588108 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.940C>T (p.Arg314Cys) |
single nucleotide variant |
not specified [RCV004203902] |
Chr7:128947881 [GRCh38] Chr7:128587935 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.541T>A (p.Trp181Arg) |
single nucleotide variant |
not specified [RCV004092095] |
Chr7:128947289 [GRCh38] Chr7:128587343 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.824G>A (p.Arg275Gln) |
single nucleotide variant |
not specified [RCV004096901] |
Chr7:128947765 [GRCh38] Chr7:128587819 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1264C>T (p.Arg422Cys) |
single nucleotide variant |
not specified [RCV004253896] |
Chr7:128948293 [GRCh38] Chr7:128588347 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.1456C>T (p.Arg486Trp) |
single nucleotide variant |
Systemic lupus erythematosus, susceptibility to, 10 [RCV003140643] |
Chr7:128948729 [GRCh38] Chr7:128588783 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.650C>A (p.Ala217Asp) |
single nucleotide variant |
not specified [RCV004323973] |
Chr7:128947398 [GRCh38] Chr7:128587452 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.650C>T (p.Ala217Val) |
single nucleotide variant |
not specified [RCV004332552] |
Chr7:128947398 [GRCh38] Chr7:128587452 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.623C>T (p.Pro208Leu) |
single nucleotide variant |
not specified [RCV004340116] |
Chr7:128947371 [GRCh38] Chr7:128587425 [GRCh37] Chr7:7q32.1 |
uncertain significance |
GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1 |
copy number loss |
not provided [RCV003482986] |
Chr7:127076892..129405807 [GRCh37] Chr7:7q31.33-32.2 |
pathogenic |
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 |
copy number loss |
not specified [RCV003986721] |
Chr7:120582003..137699953 [GRCh37] Chr7:7q31.31-33 |
pathogenic |
NM_001098629.3(IRF5):c.195+10G>A |
single nucleotide variant |
IRF5-related disorder [RCV003947292] |
Chr7:128942286 [GRCh38] Chr7:128582340 [GRCh37] Chr7:7q32.1 |
likely benign |
NM_001098629.3(IRF5):c.413T>A (p.Phe138Tyr) |
single nucleotide variant |
not specified [RCV004403265] |
Chr7:128946528 [GRCh38] Chr7:128586582 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.535G>A (p.Val179Ile) |
single nucleotide variant |
not specified [RCV004403266] |
Chr7:128947283 [GRCh38] Chr7:128587337 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.575C>T (p.Pro192Leu) |
single nucleotide variant |
not specified [RCV004403267] |
Chr7:128947323 [GRCh38] Chr7:128587377 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.716T>C (p.Leu239Pro) |
single nucleotide variant |
not specified [RCV004403268] |
Chr7:128947464 [GRCh38] Chr7:128587518 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.722C>T (p.Ala241Val) |
single nucleotide variant |
not specified [RCV004403269] |
Chr7:128947470 [GRCh38] Chr7:128587524 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NM_001098629.3(IRF5):c.829C>G (p.Pro277Ala) |
single nucleotide variant |
not specified [RCV004403271] |
Chr7:128947770 [GRCh38] Chr7:128587824 [GRCh37] Chr7:7q32.1 |
uncertain significance |
NC_000007.13:g.(?_128470692)_(128694824_?)del |
deletion |
Myofibrillar myopathy 5 [RCV004583555] |
Chr7:128470692..128694824 [GRCh37] Chr7:7q32.1 |
pathogenic |
NC_000007.13:g.(?_128388409)_(128694824_?)del |
deletion |
Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV004583504] |
Chr7:128388409..128694824 [GRCh37] Chr7:7q32.1 |
uncertain significance |