| NM_002016.2(FLG):c.2746G>C (p.Ala916Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002901096] |
Chr1:152312140 [GRCh38]
Chr1:152284616 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9595C>T (p.Gln3199Ter) |
single nucleotide variant |
not provided [RCV000521469] |
Chr1:152305291 [GRCh38]
Chr1:152277767 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) |
single nucleotide variant |
Atopic eczema [RCV000787952]|Dermatitis, atopic, 2 [RCV000678332]|Dermatitis, atopic, 2 [RCV000763246]|Dermatitis, atopic, 2, susceptibility to [RCV000017713]|Eczematoid dermatitis [RCV001270061]|FLG-related disorder [RCV003407342]|Ichthyosis vulgaris [RCV000017712]|not provided [RCV000255693] |
Chr1:152313385 [GRCh38]
Chr1:152285861 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic|risk factor |
| NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) |
microsatellite |
Autosomal dominant ichthyosis vulgaris [RCV004786270]|Dermatitis, atopic, 2 [RCV000191085]|Dermatitis, atopic, 2 [RCV000678372]|Dermatitis, atopic, 2, susceptibility to [RCV000017715]|Eczematoid dermatitis [RCV001270060]|FLG-related disorder [RCV003398531]|Ichthyosis vulgaris [RCV000017714]|not provided [RCV000256057] |
Chr1:152312601..152312604 [GRCh38]
Chr1:152285077..152285080 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic|risk factor|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| FLG, 1-BP DEL, 3321A |
deletion |
Ichthyosis vulgaris [RCV000017718]|Dermatitis, atopic, 2, susceptibility to [RCV000017719] |
Chr1:1q21 |
pathogenic|risk factor |
| NM_002016.2(FLG):c.487G>T (p.Gly163Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV000763247]|Ichthyosis vulgaris [RCV003338695]|not provided [RCV000627348] |
Chr1:152314399 [GRCh38]
Chr1:152286875 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV002490380]|Dermatitis, atopic, 2, susceptibility to [RCV000017717]|Ichthyosis vulgaris [RCV000017716]|not provided [RCV004719654] |
Chr1:152307225 [GRCh38]
Chr1:152279701 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic|risk factor |
| NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004771462]|Ichthyosis vulgaris [RCV000490507]|not provided [RCV000114742] |
Chr1:152302822 [GRCh38]
Chr1:152275298 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002016.1(FLG):c.1970C>G (p.Ser657Cys) |
single nucleotide variant |
Lung cancer [RCV000089759] |
Chr1:152312916 [GRCh38]
Chr1:152285392 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.1(FLG):c.12138G>A (p.Ser4046=) |
single nucleotide variant |
Malignant melanoma [RCV000059880] |
Chr1:152302748 [GRCh38]
Chr1:152275224 [GRCh37]
Chr1:150541848 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.9515G>A (p.Gly3172Glu) |
single nucleotide variant |
Malignant melanoma [RCV000059881] |
Chr1:152305371 [GRCh38]
Chr1:152277847 [GRCh37]
Chr1:150544471 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.7683G>A (p.Arg2561=) |
single nucleotide variant |
Malignant melanoma [RCV000059882] |
Chr1:152307203 [GRCh38]
Chr1:152279679 [GRCh37]
Chr1:150546303 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.1416G>A (p.Val472=) |
single nucleotide variant |
Malignant melanoma [RCV000059883] |
Chr1:152313470 [GRCh38]
Chr1:152285946 [GRCh37]
Chr1:150552570 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.10256G>A (p.Arg3419Gln) |
single nucleotide variant |
Malignant melanoma [RCV000064153] |
Chr1:152304630 [GRCh38]
Chr1:152277106 [GRCh37]
Chr1:150543730 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.9546C>T (p.His3182=) |
single nucleotide variant |
Malignant melanoma [RCV000064154] |
Chr1:152305340 [GRCh38]
Chr1:152277816 [GRCh37]
Chr1:150544440 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.9335G>A (p.Gly3112Glu) |
single nucleotide variant |
Malignant melanoma [RCV000064155] |
Chr1:152305551 [GRCh38]
Chr1:152278027 [GRCh37]
Chr1:150544651 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.4297G>A (p.Glu1433Lys) |
single nucleotide variant |
Malignant melanoma [RCV000064156] |
Chr1:152310589 [GRCh38]
Chr1:152283065 [GRCh37]
Chr1:150549689 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.2556G>A (p.Arg852=) |
single nucleotide variant |
Malignant melanoma [RCV000064157] |
Chr1:152312330 [GRCh38]
Chr1:152284806 [GRCh37]
Chr1:150551430 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.1531G>A (p.Glu511Lys) |
single nucleotide variant |
Malignant melanoma [RCV000064158] |
Chr1:152313355 [GRCh38]
Chr1:152285831 [GRCh37]
Chr1:150552455 [NCBI36]
Chr1:1q21.3 |
not provided |
| NM_002016.1(FLG):c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln) |
indel |
Dermatitis, atopic, 2 [RCV000660392] |
Chr1:152312492..152312507 [GRCh38]
Chr1:152284968..152284983 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6984G>A (p.Glu2328=) |
single nucleotide variant |
not provided [RCV002292737] |
Chr1:152307902 [GRCh38]
Chr1:152280378 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10459A>T (p.Arg3487Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001291296] |
Chr1:152304427 [GRCh38]
Chr1:152276903 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.11573G>A (p.Arg3858His) |
single nucleotide variant |
not provided [RCV004713391]|not specified [RCV000171158] |
Chr1:152303313 [GRCh38]
Chr1:152275789 [GRCh37]
Chr1:1q21.3 |
likely pathogenic|benign|likely benign |
| NM_002016.2(FLG):c.2143C>T (p.Gln715Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000190587] |
Chr1:152312743 [GRCh38]
Chr1:152285219 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| GRCh38/hg38 1q21.3(chr1:152267710-152436835)x1 |
copy number loss |
See cases [RCV000142196] |
Chr1:152267710..152436835 [GRCh38]
Chr1:152240186..152409311 [GRCh37]
Chr1:150506810..150675935 [NCBI36]
Chr1:1q21.3 |
uncertain significance |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_002016.2(FLG):c.10324A>T (p.Arg3442Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001169996]|not provided [RCV000254718] |
Chr1:152304562 [GRCh38]
Chr1:152277038 [GRCh37]
Chr1:1q21.3 |
pathogenic|uncertain significance |
| NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV002248494]|not provided [RCV000255031] |
Chr1:152307622 [GRCh38]
Chr1:152280098 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV001255624]|FLG-related disorder [RCV003401213]|Ichthyosis vulgaris [RCV000986414]|not provided [RCV000255117] |
Chr1:152312410 [GRCh38]
Chr1:152284886 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002016.2(FLG):c.7487del (p.Thr2496fs) |
deletion |
Ichthyosis vulgaris [RCV001782770]|not provided [RCV000400089] |
Chr1:152307399 [GRCh38]
Chr1:152279875 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV002494811]|Ichthyosis vulgaris [RCV003153548]|not provided [RCV000293346] |
Chr1:152312668 [GRCh38]
Chr1:152285144 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV003137876]|Ichthyosis vulgaris [RCV000991154]|not provided [RCV000293549] |
Chr1:152304939 [GRCh38]
Chr1:152277415 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.94G>T (p.Glu32Ter) |
single nucleotide variant |
FLG-related disorder [RCV003909904]|Ichthyosis vulgaris [RCV000709724]|not provided [RCV000300225] |
Chr1:152315363 [GRCh38]
Chr1:152287839 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV002248503]|not provided [RCV000261767] |
Chr1:152308777 [GRCh38]
Chr1:152281253 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.11246C>G (p.Ser3749Ter) |
single nucleotide variant |
not provided [RCV000277316] |
Chr1:152303640 [GRCh38]
Chr1:152276116 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003333057]|not provided [RCV000365311] |
Chr1:152303434 [GRCh38]
Chr1:152275910 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) |
single nucleotide variant |
Dermatitis, atopic [RCV004576917]|Dermatitis, atopic, 2 [RCV000763245]|Dermatitis, atopic, 2 [RCV001253562]|FLG-related disorder [RCV004549477]|Ichthyosis vulgaris [RCV000991155]|not provided [RCV000255655] |
Chr1:152307547 [GRCh38]
Chr1:152307547..152307548 [GRCh38]
Chr1:152280023 [GRCh37]
Chr1:152280023..152280024 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV001263482]|FLG-related disorder [RCV004549476]|Ichthyosis vulgaris [RCV000986413]|See cases [RCV002251948]|not provided [RCV000255466] |
Chr1:152305146 [GRCh38]
Chr1:152305146..152305147 [GRCh38]
Chr1:152277622 [GRCh37]
Chr1:152277622..152277623 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.10225C>T (p.Arg3409Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV003137870]|Ichthyosis vulgaris [RCV001332077]|not provided [RCV000255606] |
Chr1:152304661 [GRCh38]
Chr1:152277137 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001542544]|Inborn genetic diseases [RCV000210631]|not provided [RCV000598981] |
Chr1:152308647 [GRCh38]
Chr1:152281123 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV000223957] |
Chr1:144927578..153223600 [GRCh37]
Chr1:1q21.1-21.3 |
pathogenic |
| NM_002016.2(FLG):c.779C>A (p.Ser260Ter) |
single nucleotide variant |
not provided [RCV000358958] |
Chr1:152314107 [GRCh38]
Chr1:152286583 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4786C>T (p.Gln1596Ter) |
single nucleotide variant |
not provided [RCV000323173] |
Chr1:152310100 [GRCh38]
Chr1:152282576 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2427G>A (p.Trp809Ter) |
single nucleotide variant |
FLG-related disorder [RCV003417877]|not provided [RCV000335790] |
Chr1:152312459 [GRCh38]
Chr1:152284935 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.1063C>T (p.Gln355Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001814139]|not provided [RCV000342574] |
Chr1:152313823 [GRCh38]
Chr1:152286299 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7358C>A (p.Ser2453Ter) |
single nucleotide variant |
not provided [RCV000520009] |
Chr1:152307528 [GRCh38]
Chr1:152280004 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5170G>T (p.Gly1724Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV000626069] |
Chr1:152309716 [GRCh38]
Chr1:152282192 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001254159]|not provided [RCV000255941] |
Chr1:152311957 [GRCh38]
Chr1:152284433 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.7267_7268del (p.Gln2423fs) |
deletion |
Ichthyosis vulgaris [RCV004783769]|not provided [RCV000256154] |
Chr1:152307618..152307619 [GRCh38]
Chr1:152280094..152280095 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV002525176]|FLG-related disorder [RCV003925562]|Ichthyosis vulgaris [RCV002289711]|not provided [RCV000521641] |
Chr1:152312524 [GRCh38]
Chr1:152285000 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic|not provided |
| NM_002016.2(FLG):c.7288C>T (p.Arg2430Trp) |
single nucleotide variant |
not provided [RCV003312134] |
Chr1:152307598 [GRCh38]
Chr1:152280074 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7189C>T (p.Gln2397Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000490295] |
Chr1:152307697 [GRCh38]
Chr1:152280173 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1369C>T (p.Arg457Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004333268]|not provided [RCV003314104] |
Chr1:152313517 [GRCh38]
Chr1:152285993 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9901A>T (p.Arg3301Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV002284011] |
Chr1:152304985 [GRCh38]
Chr1:152277461 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.3936T>A (p.His1312Gln) |
single nucleotide variant |
not provided [RCV001546587] |
Chr1:152310950 [GRCh38]
Chr1:152283426 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9418C>G (p.His3140Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003268979] |
Chr1:152305468 [GRCh38]
Chr1:152277944 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7686del (p.Trp2563fs) |
deletion |
not provided [RCV004780797] |
Chr1:152307200 [GRCh38]
Chr1:152279676 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.6014_6015del (p.His2005fs) |
deletion |
Ichthyosis vulgaris [RCV001781116] |
Chr1:152308871..152308872 [GRCh38]
Chr1:152281347..152281348 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.3440A>G (p.Glu1147Gly) |
single nucleotide variant |
not provided [RCV001573733] |
Chr1:152311446 [GRCh38]
Chr1:152283922 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000490339]|not specified [RCV001777158] |
Chr1:152309169 [GRCh38]
Chr1:152281645 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic|benign|likely benign |
| NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000490412]|not provided [RCV000760421] |
Chr1:152310981 [GRCh38]
Chr1:152283457 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000490523]|not provided [RCV000519273] |
Chr1:152304999 [GRCh38]
Chr1:152277475 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10483T>A (p.Ser3495Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003245196] |
Chr1:152304403 [GRCh38]
Chr1:152276879 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5033G>A (p.Gly1678Glu) |
single nucleotide variant |
not provided [RCV002292738] |
Chr1:152309853 [GRCh38]
Chr1:152282329 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11090G>A (p.Arg3697His) |
single nucleotide variant |
Inborn genetic diseases [RCV003243950] |
Chr1:152303796 [GRCh38]
Chr1:152276272 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1297_1298del (p.Asp433fs) |
deletion |
FLG-related disorder [RCV003403135]|not provided [RCV000490026] |
Chr1:152313588..152313589 [GRCh38]
Chr1:152286064..152286065 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.477dup (p.Glu160fs) |
duplication |
Dermatitis, atopic, 2 [RCV004796247]|not provided [RCV000598732] |
Chr1:152314408..152314409 [GRCh38]
Chr1:152286884..152286885 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338670]|not provided [RCV000578668] |
Chr1:152310466 [GRCh38]
Chr1:152282942 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.8911A>T (p.Arg2971Ter) |
single nucleotide variant |
not provided [RCV000578721] |
Chr1:152305975 [GRCh38]
Chr1:152278451 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.660del (p.Gly221fs) |
deletion |
not provided [RCV000599043] |
Chr1:152314226 [GRCh38]
Chr1:152286702 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7098_7101del (p.Ser2366fs) |
deletion |
not provided [RCV000598718] |
Chr1:152307785..152307788 [GRCh38]
Chr1:152280261..152280264 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3250_3251del (p.Gln1084fs) |
microsatellite |
not provided [RCV000599057] |
Chr1:152311635..152311636 [GRCh38]
Chr1:152284111..152284112 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.3427G>T (p.Gly1143Ter) |
single nucleotide variant |
not provided [RCV000521438] |
Chr1:152311459 [GRCh38]
Chr1:152283935 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5690del (p.His1897fs) |
deletion |
not provided [RCV000599268] |
Chr1:152309196 [GRCh38]
Chr1:152281672 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.9280del (p.Ala3094fs) |
deletion |
not provided [RCV000599358] |
Chr1:152305606 [GRCh38]
Chr1:152278082 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5186C>G (p.Ser1729Ter) |
single nucleotide variant |
not provided [RCV000599553] |
Chr1:152309700 [GRCh38]
Chr1:152282176 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10558C>T (p.Gln3520Ter) |
single nucleotide variant |
not provided [RCV000599437] |
Chr1:152304328 [GRCh38]
Chr1:152276804 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.745dup (p.Ser249fs) |
duplication |
not provided [RCV000599537] |
Chr1:152314140..152314141 [GRCh38]
Chr1:152286616..152286617 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1826C>A (p.Ser609Ter) |
single nucleotide variant |
not provided [RCV000412715] |
Chr1:152313060 [GRCh38]
Chr1:152285536 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.11528C>G (p.Ser3843Ter) |
single nucleotide variant |
not provided [RCV000412869] |
Chr1:152303358 [GRCh38]
Chr1:152275834 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4279G>A (p.Ala1427Thr) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000415319]|not provided [RCV003884518] |
Chr1:152310607 [GRCh38]
Chr1:152283083 [GRCh37]
Chr1:1q21.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002016.2(FLG):c.4004_4005del (p.Glu1335fs) |
microsatellite |
not provided [RCV000414010] |
Chr1:152310881..152310882 [GRCh38]
Chr1:152283357..152283358 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5230C>T (p.Gln1744Ter) |
single nucleotide variant |
not provided [RCV000414080] |
Chr1:152309656 [GRCh38]
Chr1:152282132 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3757G>T (p.Gly1253Ter) |
single nucleotide variant |
not provided [RCV000414116] |
Chr1:152311129 [GRCh38]
Chr1:152283605 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2263G>A (p.Glu755Lys) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338582]|not provided [RCV004713933]|not specified [RCV000427758] |
Chr1:152312623 [GRCh38]
Chr1:152285099 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004796177]|Ichthyosis vulgaris [RCV002248656]|not provided [RCV000434890] |
Chr1:152307637 [GRCh38]
Chr1:152280113 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.11851dup (p.His3951fs) |
duplication |
not provided [RCV000480909] |
Chr1:152303034..152303035 [GRCh38]
Chr1:152275510..152275511 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3254_3257del (p.Ser1085fs) |
microsatellite |
not provided [RCV000482142] |
Chr1:152311629..152311632 [GRCh38]
Chr1:152284105..152284108 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.557dup (p.Asn186fs) |
duplication |
Dermatitis, atopic, 2 [RCV002264944]|not provided [RCV000482898] |
Chr1:152314328..152314329 [GRCh38]
Chr1:152286804..152286805 [GRCh37]
Chr1:1q21.3 |
pathogenic|not provided |
| NM_002016.2(FLG):c.899_903del (p.Asp300fs) |
deletion |
Ichthyosis vulgaris [RCV000477947] |
Chr1:152313983..152313987 [GRCh38]
Chr1:152286459..152286463 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.3551C>A (p.Ser1184Ter) |
single nucleotide variant |
not provided [RCV000483623] |
Chr1:152311335 [GRCh38]
Chr1:152283811 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5392C>T (p.Arg1798Ter) |
single nucleotide variant |
not provided [RCV000484307] |
Chr1:152309494 [GRCh38]
Chr1:152281970 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) |
deletion |
Dermatitis, atopic, 2 [RCV001809432]|Dermatitis, atopic, 2 [RCV002506166]|Ichthyosis vulgaris [RCV001782963]|not provided [RCV000484342] |
Chr1:152307929..152307936 [GRCh38]
Chr1:152280405..152280412 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.3837del (p.Ser1280fs) |
deletion |
not provided [RCV000484364] |
Chr1:152311049 [GRCh38]
Chr1:152283525 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2906del (p.Asn969fs) |
deletion |
not provided [RCV000484378] |
Chr1:152311980 [GRCh38]
Chr1:152284456 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.9722del (p.Gly3241fs) |
deletion |
not provided [RCV000484399] |
Chr1:152305164 [GRCh38]
Chr1:152277640 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4678C>T (p.Arg1560Cys) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338594]|not provided [RCV001709650]|not specified [RCV000455475] |
Chr1:152310208 [GRCh38]
Chr1:152282684 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10191del (p.Glu3397fs) |
deletion |
not provided [RCV000478664] |
Chr1:152304695 [GRCh38]
Chr1:152277171 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2938C>G (p.His980Asp) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338595]|not provided [RCV001573807]|not specified [RCV000456001] |
Chr1:152311948 [GRCh38]
Chr1:152284424 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.3702del (p.Ser1235fs) |
deletion |
Ichthyosis vulgaris [RCV002054864]|not provided [RCV000479326] |
Chr1:152311184 [GRCh38]
Chr1:152283660 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5930C>G (p.Ser1977Ter) |
single nucleotide variant |
not provided [RCV000486896] |
Chr1:152308956 [GRCh38]
Chr1:152281432 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3321del (p.Gly1109fs) |
deletion |
Autosomal dominant ichthyosis vulgaris [RCV004787778]|Dermatitis, atopic, 2 [RCV004796190]|Dermatitis, atopic, 2, susceptibility to [RCV000017719]|Ichthyosis vulgaris [RCV000017718]|not provided [RCV000487070] |
Chr1:152311565 [GRCh38]
Chr1:152284041 [GRCh37]
Chr1:1q21.3 |
pathogenic|risk factor |
| NM_002016.2(FLG):c.3892del (p.Ser1298fs) |
deletion |
not provided [RCV000498647] |
Chr1:152310994 [GRCh38]
Chr1:152283470 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7081C>T (p.Arg2361Ter) |
single nucleotide variant |
not provided [RCV000498796] |
Chr1:152307805 [GRCh38]
Chr1:152280281 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) |
deletion |
Ichthyosis vulgaris [RCV001849387]|not provided [RCV000498102] |
Chr1:152310098..152310101 [GRCh38]
Chr1:152282574..152282577 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.5945_5946del (p.Thr1982fs) |
microsatellite |
not provided [RCV000493525] |
Chr1:152308940..152308941 [GRCh38]
Chr1:152281416..152281417 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.11635C>T (p.Arg3879Ter) |
single nucleotide variant |
not provided [RCV000493665] |
Chr1:152303251 [GRCh38]
Chr1:152275727 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.1248dup (p.Ser417fs) |
duplication |
Dermatitis, atopic, 2 [RCV004796199]|not provided [RCV000494413] |
Chr1:152313637..152313638 [GRCh38]
Chr1:152286113..152286114 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) |
single nucleotide variant |
Autosomal dominant ichthyosis vulgaris [RCV002470882]|Ichthyosis vulgaris [RCV002248723]|not provided [RCV000493067] |
Chr1:152303917 [GRCh38]
Chr1:152276393 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004783825]|Ichthyosis vulgaris [RCV001783120]|Inborn genetic diseases [RCV000622390]|not provided [RCV000760852] |
Chr1:152307855 [GRCh38]
Chr1:152280331 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1q21.3(chr1:152250211-152402521)x1 |
copy number loss |
See cases [RCV000510750] |
Chr1:152250211..152402521 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q21.3(chr1:152250211-152409311)x1 |
copy number loss |
See cases [RCV000510844] |
Chr1:152250211..152409311 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6652G>T (p.Asp2218Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003270190] |
Chr1:152308234 [GRCh38]
Chr1:152280710 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11212C>T (p.Arg3738Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003297869] |
Chr1:152303674 [GRCh38]
Chr1:152276150 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1195G>C (p.Ala399Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003254414] |
Chr1:152313691 [GRCh38]
Chr1:152286167 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3666G>T (p.Lys1222Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003272729] |
Chr1:152311220 [GRCh38]
Chr1:152283696 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2124T>G (p.His708Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003299562] |
Chr1:152312762 [GRCh38]
Chr1:152285238 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2926G>C (p.Glu976Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003300623] |
Chr1:152311960 [GRCh38]
Chr1:152284436 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7700T>C (p.Phe2567Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003280981] |
Chr1:152307186 [GRCh38]
Chr1:152279662 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7080C>G (p.His2360Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003293414] |
Chr1:152307806 [GRCh38]
Chr1:152280282 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.544A>T (p.Lys182Ter) |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV000626817] |
Chr1:152314342 [GRCh38]
Chr1:152286818 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1631C>T (p.Ser544Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003270777] |
Chr1:152313255 [GRCh38]
Chr1:152285731 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV000660391]|not provided [RCV000515059] |
Chr1:152307085 [GRCh38]
Chr1:152279561 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.11827G>A (p.Gly3943Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003265183] |
Chr1:152303059 [GRCh38]
Chr1:152275535 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3510del (p.Ser1171fs) |
deletion |
not provided [RCV000522317] |
Chr1:152311376 [GRCh38]
Chr1:152283852 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10096C>A (p.Gln3366Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003263277] |
Chr1:152304790 [GRCh38]
Chr1:152277266 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1214C>T (p.Ala405Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003307105] |
Chr1:152313672 [GRCh38]
Chr1:152286148 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4201C>T (p.His1401Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003287460] |
Chr1:152310685 [GRCh38]
Chr1:152283161 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1979C>G (p.Pro660Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003264388] |
Chr1:152312907 [GRCh38]
Chr1:152285383 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9721G>T (p.Gly3241Ter) |
single nucleotide variant |
not provided [RCV003313498] |
Chr1:152305165 [GRCh38]
Chr1:152277641 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10573C>G (p.Gln3525Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003254146] |
Chr1:152304313 [GRCh38]
Chr1:152276789 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8173C>T (p.Arg2725Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003257948] |
Chr1:152306713 [GRCh38]
Chr1:152279189 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8765A>T (p.Gln2922Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003269647] |
Chr1:152306121 [GRCh38]
Chr1:152278597 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.545A>C (p.Lys182Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003292574] |
Chr1:152314341 [GRCh38]
Chr1:152286817 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.12068A>T (p.Asp4023Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003253242] |
Chr1:152302818 [GRCh38]
Chr1:152275294 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7604A>C (p.His2535Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003244579] |
Chr1:152307282 [GRCh38]
Chr1:152279758 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3670A>G (p.Lys1224Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003272730] |
Chr1:152311216 [GRCh38]
Chr1:152283692 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7476C>A (p.His2492Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003295124] |
Chr1:152307410 [GRCh38]
Chr1:152279886 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2285T>G (p.Val762Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003242832] |
Chr1:152312601 [GRCh38]
Chr1:152285077 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3010C>T (p.Gln1004Ter) |
single nucleotide variant |
not provided [RCV000578661] |
Chr1:152311876 [GRCh38]
Chr1:152284352 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.977G>A (p.Trp326Ter) |
single nucleotide variant |
not provided [RCV000579042] |
Chr1:152313909 [GRCh38]
Chr1:152286385 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| GRCh37/hg19 1q21.3(chr1:152248315-152409311)x1 |
copy number loss |
See cases [RCV000512554] |
Chr1:152248315..152409311 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6682G>T (p.Gly2228Ter) |
single nucleotide variant |
not provided [RCV000627346] |
Chr1:152308204 [GRCh38]
Chr1:152280680 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001198184]|Palmoplantar hyperhidrosis [RCV000626816] |
Chr1:152304874 [GRCh38]
Chr1:152277350 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7358C>G (p.Ser2453Ter) |
single nucleotide variant |
not provided [RCV000658146] |
Chr1:152307528 [GRCh38]
Chr1:152280004 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004796265]|Ichthyosis vulgaris [RCV002248852]|not provided [RCV000657650] |
Chr1:152306769 [GRCh38]
Chr1:152279245 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV001334986]|Ichthyosis vulgaris [RCV003338725]|not provided [RCV000657776] |
Chr1:152307049 [GRCh38]
Chr1:152279525 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.6032_6034del (p.Leu2011del) |
deletion |
Ichthyosis vulgaris [RCV000714803] |
Chr1:152308852..152308854 [GRCh38]
Chr1:152281328..152281330 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8689_8690del (p.Asp2896_Ser2897insTer) |
deletion |
Ichthyosis vulgaris [RCV001781117] |
Chr1:152306196..152306197 [GRCh38]
Chr1:152278672..152278673 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV002249402]|not provided [RCV000677429] |
Chr1:152310342 [GRCh38]
Chr1:152282818 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3 |
copy number gain |
not provided [RCV000684655] |
Chr1:150853044..154647786 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8486G>A (p.Arg2829His) |
single nucleotide variant |
not specified [RCV000736091] |
Chr1:152306400 [GRCh38]
Chr1:152278876 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3609G>T (p.Arg1203Ser) |
single nucleotide variant |
not provided [RCV001572883] |
Chr1:152311277 [GRCh38]
Chr1:152283753 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11486G>A (p.Arg3829His) |
single nucleotide variant |
not provided [RCV001573251] |
Chr1:152303400 [GRCh38]
Chr1:152275876 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.4421G>A (p.Arg1474Gln) |
single nucleotide variant |
not provided [RCV001573346] |
Chr1:152310465 [GRCh38]
Chr1:152282941 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7720C>G (p.Gln2574Glu) |
single nucleotide variant |
not provided [RCV001566452] |
Chr1:152307166 [GRCh38]
Chr1:152279642 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV002495916]|Ichthyosis vulgaris [RCV003339678]|not provided [RCV001573631]|not specified [RCV001727892] |
Chr1:152303901 [GRCh38]
Chr1:152276377 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.284C>T (p.Pro95Leu) |
single nucleotide variant |
FLG-related disorder [RCV003956294]|not provided [RCV001609041] |
Chr1:152314602 [GRCh38]
Chr1:152287078 [GRCh37]
Chr1:1q21.3 |
benign |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q21.3(chr1:152259078-152412196)x1 |
copy number loss |
not provided [RCV000736692] |
Chr1:152259078..152412196 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5737A>C (p.Asn1913His) |
single nucleotide variant |
not provided [RCV001530664] |
Chr1:152309149 [GRCh38]
Chr1:152281625 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1236T>C (p.Arg412=) |
single nucleotide variant |
FLG-related disorder [RCV003975870]|not provided [RCV001666836]|not specified [RCV001724381] |
Chr1:152313650 [GRCh38]
Chr1:152286126 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10055C>G (p.Thr3352Arg) |
single nucleotide variant |
not provided [RCV001611424] |
Chr1:152304831 [GRCh38]
Chr1:152277307 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5738A>G (p.Asn1913Ser) |
single nucleotide variant |
not provided [RCV001571260] |
Chr1:152309148 [GRCh38]
Chr1:152281624 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.139-119del |
deletion |
not provided [RCV001709159] |
Chr1:152314866 [GRCh38]
Chr1:152287342 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6073G>A (p.Gly2025Arg) |
single nucleotide variant |
not provided [RCV001548127]|not specified [RCV001726583] |
Chr1:152308813 [GRCh38]
Chr1:152281289 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.2884T>C (p.Trp962Arg) |
single nucleotide variant |
not provided [RCV001565884]|not specified [RCV001726586] |
Chr1:152312002 [GRCh38]
Chr1:152284478 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.8343C>T (p.Asp2781=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339665]|not provided [RCV001534742] |
Chr1:152306543 [GRCh38]
Chr1:152279019 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2539T>A (p.Ser847Thr) |
single nucleotide variant |
not provided [RCV001667782] |
Chr1:152312347 [GRCh38]
Chr1:152284823 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln) |
single nucleotide variant |
not provided [RCV001572762]|not specified [RCV001724355] |
Chr1:152308696 [GRCh38]
Chr1:152281172 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.11674C>T (p.Arg3892Trp) |
single nucleotide variant |
not provided [RCV001572929] |
Chr1:152303212 [GRCh38]
Chr1:152275688 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4126A>G (p.Arg1376Gly) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339666]|not provided [RCV001535085] |
Chr1:152310760 [GRCh38]
Chr1:152283236 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4240G>A (p.Gly1414Arg) |
single nucleotide variant |
not provided [RCV001573285]|not specified [RCV001724361] |
Chr1:152310646 [GRCh38]
Chr1:152283122 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.2713G>A (p.Gly905Ser) |
single nucleotide variant |
FLG-related disorder [RCV003941024]|not provided [RCV001574041] |
Chr1:152312173 [GRCh38]
Chr1:152284649 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6675G>A (p.Val2225=) |
single nucleotide variant |
not provided [RCV001648925] |
Chr1:152308211 [GRCh38]
Chr1:152280687 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8807A>G (p.Asp2936Gly) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339695]|not provided [RCV001648072] |
Chr1:152306079 [GRCh38]
Chr1:152278555 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6276C>A (p.Tyr2092Ter) |
single nucleotide variant |
not provided [RCV000760881] |
Chr1:152308610 [GRCh38]
Chr1:152281086 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.11575C>T (p.Gln3859Ter) |
single nucleotide variant |
not provided [RCV000760338] |
Chr1:152303311 [GRCh38]
Chr1:152275787 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.9490A>C (p.Thr3164Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003267950] |
Chr1:152305396 [GRCh38]
Chr1:152277872 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9491C>A (p.Thr3164Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003267951] |
Chr1:152305395 [GRCh38]
Chr1:152277871 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3418C>T (p.Arg1140Ter) |
single nucleotide variant |
not provided [RCV000760422] |
Chr1:152311468 [GRCh38]
Chr1:152283944 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter) |
single nucleotide variant |
not provided [RCV000760537] |
Chr1:152311827 [GRCh38]
Chr1:152284303 [GRCh37]
Chr1:1q21.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_002016.2(FLG):c.2767dup (p.Ser923fs) |
duplication |
Ichthyosis vulgaris [RCV003314415] |
Chr1:152312118..152312119 [GRCh38]
Chr1:152284594..152284595 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.3317G>A (p.Trp1106Ter) |
single nucleotide variant |
not provided [RCV000760609] |
Chr1:152311569 [GRCh38]
Chr1:152284045 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.6208C>T (p.Gln2070Ter) |
single nucleotide variant |
not provided [RCV000760676] |
Chr1:152308678 [GRCh38]
Chr1:152281154 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.6748G>A (p.Glu2250Lys) |
single nucleotide variant |
not provided [RCV000994101] |
Chr1:152308138 [GRCh38]
Chr1:152280614 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.2365C>T (p.Arg789Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003244286] |
Chr1:152312521 [GRCh38]
Chr1:152284997 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1511C>T (p.Ser504Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003245063] |
Chr1:152313375 [GRCh38]
Chr1:152285851 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7058C>G (p.Ser2353Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003244578] |
Chr1:152307828 [GRCh38]
Chr1:152280304 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8878G>A (p.Gly2960Ser) |
single nucleotide variant |
not provided [RCV001572844]|not specified [RCV001724356] |
Chr1:152306008 [GRCh38]
Chr1:152278484 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.1821A>G (p.Gln607=) |
single nucleotide variant |
not provided [RCV001551677] |
Chr1:152313065 [GRCh38]
Chr1:152285541 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6652G>A (p.Asp2218Asn) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339681]|not provided [RCV001581788] |
Chr1:152308234 [GRCh38]
Chr1:152280710 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2857G>C (p.Glu953Gln) |
single nucleotide variant |
FLG-related disorder [RCV003980708]|not provided [RCV001573462]|not specified [RCV001724363] |
Chr1:152312029 [GRCh38]
Chr1:152284505 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.6430C>T (p.Pro2144Ser) |
single nucleotide variant |
not provided [RCV001573510]|not specified [RCV001724364] |
Chr1:152308456 [GRCh38]
Chr1:152280932 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.2804G>C (p.Gly935Ala) |
single nucleotide variant |
FLG-related disorder [RCV003980710]|Ichthyosis vulgaris [RCV004785283]|not provided [RCV001573648] |
Chr1:152312082 [GRCh38]
Chr1:152284558 [GRCh37]
Chr1:1q21.3 |
benign|likely benign|uncertain significance |
| NM_002016.2(FLG):c.3338G>A (p.Arg1113His) |
single nucleotide variant |
not provided [RCV001574010]|not specified [RCV001724367] |
Chr1:152311548 [GRCh38]
Chr1:152284024 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.9262G>A (p.Gly3088Arg) |
single nucleotide variant |
not provided [RCV001681108] |
Chr1:152305624 [GRCh38]
Chr1:152278100 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7575C>T (p.Asp2525=) |
single nucleotide variant |
not provided [RCV001576055] |
Chr1:152307311 [GRCh38]
Chr1:152279787 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9658G>C (p.Asp3220His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000856567] |
Chr1:152305228 [GRCh38]
Chr1:152277704 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7504G>C (p.Asp2502His) |
single nucleotide variant |
Inborn genetic diseases [RCV003243545] |
Chr1:152307382 [GRCh38]
Chr1:152279858 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1772C>T (p.Ala591Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003271553] |
Chr1:152313114 [GRCh38]
Chr1:152285590 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3154A>G (p.Arg1052Gly) |
single nucleotide variant |
not provided [RCV000838143] |
Chr1:152311732 [GRCh38]
Chr1:152284208 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1360A>G (p.Thr454Ala) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338825]|not provided [RCV001655607]|not specified [RCV000825068] |
Chr1:152313526 [GRCh38]
Chr1:152286002 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10285G>T (p.Glu3429Ter) |
single nucleotide variant |
not provided [RCV000994100] |
Chr1:152304601 [GRCh38]
Chr1:152277077 [GRCh37]
Chr1:1q21.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002016.2(FLG):c.1432C>T (p.Pro478Ser) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338824]|not provided [RCV001683663]|not specified [RCV000825067] |
Chr1:152313454 [GRCh38]
Chr1:152285930 [GRCh37]
Chr1:1q21.3 |
benign |
| GRCh37/hg19 1q21.3(chr1:151850071-152295520)x3 |
copy number gain |
not provided [RCV000846163] |
Chr1:151850071..152295520 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9520A>G (p.Ser3174Gly) |
single nucleotide variant |
not provided [RCV000840924] |
Chr1:152305366 [GRCh38]
Chr1:152277842 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8885del (p.Gln2962fs) |
deletion |
Ichthyosis vulgaris [RCV000791075] |
Chr1:152306001 [GRCh38]
Chr1:152278477 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.5360del (p.Gly1787fs) |
deletion |
not provided [RCV003239104] |
Chr1:152309526 [GRCh38]
Chr1:152282002 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1830del (p.Arg612fs) |
deletion |
Ichthyosis vulgaris [RCV003338902]|Inborn genetic diseases [RCV001267597]|not provided [RCV001009301] |
Chr1:152313056 [GRCh38]
Chr1:152285532 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs) |
duplication |
Ichthyosis vulgaris [RCV003145252]|not provided [RCV001009012] |
Chr1:152310073..152310074 [GRCh38]
Chr1:152282549..152282550 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.63del (p.Asp22fs) |
deletion |
not provided [RCV001008610] |
Chr1:152315394 [GRCh38]
Chr1:152287870 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8053C>T (p.Arg2685Ter) |
single nucleotide variant |
not provided [RCV001008665] |
Chr1:152306833 [GRCh38]
Chr1:152279309 [GRCh37]
Chr1:1q21.3 |
pathogenic|conflicting interpretations of pathogenicity |
| NM_002016.2(FLG):c.388_391del (p.Arg130fs) |
deletion |
not provided [RCV001009316] |
Chr1:152314495..152314498 [GRCh38]
Chr1:152286971..152286974 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| GRCh37/hg19 1q21.3(chr1:151798754-152306536)x3 |
copy number gain |
not provided [RCV001005138] |
Chr1:151798754..152306536 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5841G>A (p.Trp1947Ter) |
single nucleotide variant |
not provided [RCV001007978] |
Chr1:152309045 [GRCh38]
Chr1:152281521 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8304G>T (p.Glu2768Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002569022]|not provided [RCV001564113] |
Chr1:152306582 [GRCh38]
Chr1:152279058 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.11035del (p.Val3679fs) |
deletion |
not provided [RCV001008420] |
Chr1:152303851 [GRCh38]
Chr1:152276327 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV002249627]|not provided [RCV001008674] |
Chr1:152305801 [GRCh38]
Chr1:152278277 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.9164C>T (p.Thr3055Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003289040] |
Chr1:152305722 [GRCh38]
Chr1:152278198 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10573C>A (p.Gln3525Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003292119] |
Chr1:152304313 [GRCh38]
Chr1:152276789 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7885C>T (p.Arg2629Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003289912] |
Chr1:152307001 [GRCh38]
Chr1:152279477 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4333G>A (p.Val1445Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003250015] |
Chr1:152310553 [GRCh38]
Chr1:152283029 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2773C>A (p.His925Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003273178] |
Chr1:152312113 [GRCh38]
Chr1:152284589 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6085T>C (p.Ser2029Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003292575] |
Chr1:152308801 [GRCh38]
Chr1:152281277 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9609G>C (p.Glu3203Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003270466] |
Chr1:152305277 [GRCh38]
Chr1:152277753 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3554T>C (p.Val1185Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002549850]|not provided [RCV000994102] |
Chr1:152311332 [GRCh38]
Chr1:152283808 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.754G>A (p.Glu252Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002549851]|not provided [RCV000994103] |
Chr1:152314132 [GRCh38]
Chr1:152286608 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) |
deletion |
Dermatitis, atopic, 2 [RCV004796346]|Ichthyosis vulgaris [RCV002249625]|not provided [RCV001008117] |
Chr1:152311661..152311664 [GRCh38]
Chr1:152284137..152284140 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339471]|not provided [RCV001090407] |
Chr1:152304631 [GRCh38]
Chr1:152277107 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4079G>A (p.Arg1360His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339706]|not provided [RCV001662917] |
Chr1:152310807 [GRCh38]
Chr1:152283283 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.1774T>G (p.Ser592Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003272728] |
Chr1:152313112 [GRCh38]
Chr1:152285588 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10400C>T (p.Thr3467Ile) |
single nucleotide variant |
Ichthyosis vulgaris [RCV004788190] |
Chr1:152304486 [GRCh38]
Chr1:152276962 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9042_9060dup (p.Gly3021delinsSerGlyGlnTer) |
duplication |
not provided [RCV003237192] |
Chr1:152305825..152305826 [GRCh38]
Chr1:152278301..152278302 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10670G>C (p.Gly3557Ala) |
single nucleotide variant |
not provided [RCV001549688] |
Chr1:152304216 [GRCh38]
Chr1:152276692 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8179C>T (p.Arg2727Trp) |
single nucleotide variant |
not provided [RCV001571776] |
Chr1:152306707 [GRCh38]
Chr1:152279183 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7873C>A (p.Gln2625Lys) |
single nucleotide variant |
not provided [RCV001576754] |
Chr1:152307013 [GRCh38]
Chr1:152279489 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5638C>A (p.His1880Asn) |
single nucleotide variant |
not provided [RCV001546075] |
Chr1:152309248 [GRCh38]
Chr1:152281724 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.12089C>A (p.Thr4030Lys) |
single nucleotide variant |
not provided [RCV001546133] |
Chr1:152302797 [GRCh38]
Chr1:152275273 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3159A>G (p.Gln1053=) |
single nucleotide variant |
not provided [RCV001550990] |
Chr1:152311727 [GRCh38]
Chr1:152284203 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6493G>C (p.Gly2165Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003250959] |
Chr1:152308393 [GRCh38]
Chr1:152280869 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5722C>T (p.Pro1908Ser) |
single nucleotide variant |
not provided [RCV001574778] |
Chr1:152309164 [GRCh38]
Chr1:152281640 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6674T>C (p.Val2225Ala) |
single nucleotide variant |
not provided [RCV001653208] |
Chr1:152308212 [GRCh38]
Chr1:152280688 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2689C>T (p.Arg897Cys) |
single nucleotide variant |
not provided [RCV001595189] |
Chr1:152312197 [GRCh38]
Chr1:152284673 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5703C>T (p.Gly1901=) |
single nucleotide variant |
not provided [RCV001599092] |
Chr1:152309183 [GRCh38]
Chr1:152281659 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10734C>T (p.Pro3578=) |
single nucleotide variant |
not provided [RCV001667944] |
Chr1:152304152 [GRCh38]
Chr1:152276628 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.1359C>T (p.Ser453=) |
single nucleotide variant |
not provided [RCV001549580] |
Chr1:152313527 [GRCh38]
Chr1:152286003 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1739del (p.Gly580fs) |
deletion |
Ichthyosis vulgaris [RCV001542545] |
Chr1:152313147 [GRCh38]
Chr1:152285623 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp) |
single nucleotide variant |
not provided [RCV001612028]|not specified [RCV001796915] |
Chr1:152306930 [GRCh38]
Chr1:152279406 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.3387T>C (p.Ser1129=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339697]|not provided [RCV001651506] |
Chr1:152311499 [GRCh38]
Chr1:152283975 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2508T>C (p.Asp836=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339689]|not provided [RCV001612367] |
Chr1:152312378 [GRCh38]
Chr1:152284854 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2280G>C (p.Gln760His) |
single nucleotide variant |
FLG-related disorder [RCV003931274]|not provided [RCV001687078] |
Chr1:152312606 [GRCh38]
Chr1:152285082 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4445C>A (p.Ser1482Tyr) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339718]|not provided [RCV001692669] |
Chr1:152310441 [GRCh38]
Chr1:152282917 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8673G>T (p.Val2891=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339685]|not provided [RCV001598031] |
Chr1:152306213 [GRCh38]
Chr1:152278689 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8187G>A (p.Gly2729=) |
single nucleotide variant |
not provided [RCV001727986]|not specified [RCV001723271] |
Chr1:152306699 [GRCh38]
Chr1:152279175 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.2067T>C (p.Ser689=) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV002503174]|not provided [RCV001726677]|not specified [RCV001723348] |
Chr1:152312819 [GRCh38]
Chr1:152285295 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.10473T>C (p.Asn3491=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339715]|not provided [RCV001684702] |
Chr1:152304413 [GRCh38]
Chr1:152276889 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7387C>G (p.His2463Asp) |
single nucleotide variant |
not provided [RCV001556635] |
Chr1:152307499 [GRCh38]
Chr1:152279975 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.7160G>A (p.Gly2387Glu) |
single nucleotide variant |
not provided [RCV001592061] |
Chr1:152307726 [GRCh38]
Chr1:152280202 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6309C>A (p.Thr2103=) |
single nucleotide variant |
not provided [RCV001723424] |
Chr1:152308577 [GRCh38]
Chr1:152281053 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2580G>A (p.Ser860=) |
single nucleotide variant |
not provided [RCV001723479] |
Chr1:152312306 [GRCh38]
Chr1:152284782 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2414C>T (p.Ser805Phe) |
single nucleotide variant |
not provided [RCV001577188] |
Chr1:152312472 [GRCh38]
Chr1:152284948 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8948A>T (p.Gln2983Leu) |
single nucleotide variant |
not provided [RCV001587114] |
Chr1:152305938 [GRCh38]
Chr1:152278414 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10903G>A (p.Asp3635Asn) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339700]|not provided [RCV001656129] |
Chr1:152303983 [GRCh38]
Chr1:152276459 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.1485G>A (p.Ser495=) |
single nucleotide variant |
FLG-related disorder [RCV003956292]|not provided [RCV001613919] |
Chr1:152313401 [GRCh38]
Chr1:152285877 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9061G>T (p.Gly3021Ter) |
single nucleotide variant |
not provided [RCV001589412] |
Chr1:152305825 [GRCh38]
Chr1:152278301 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7848T>C (p.His2616=) |
single nucleotide variant |
not provided [RCV001594076] |
Chr1:152307038 [GRCh38]
Chr1:152279514 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3794A>G (p.His1265Arg) |
single nucleotide variant |
not provided [RCV001557639] |
Chr1:152311092 [GRCh38]
Chr1:152283568 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2072G>A (p.Gly691Glu) |
single nucleotide variant |
FLG-related disorder [RCV003956295]|not provided [RCV001614211] |
Chr1:152312814 [GRCh38]
Chr1:152285290 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2912G>A (p.Arg971His) |
single nucleotide variant |
not provided [RCV001557890] |
Chr1:152311974 [GRCh38]
Chr1:152284450 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9125A>G (p.Gln3042Arg) |
single nucleotide variant |
not provided [RCV001716479] |
Chr1:152305761 [GRCh38]
Chr1:152278237 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9025C>T (p.Arg3009Ter) |
single nucleotide variant |
not provided [RCV001575428] |
Chr1:152305861 [GRCh38]
Chr1:152278337 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1494G>C (p.Glu498Asp) |
single nucleotide variant |
FLG-related disorder [RCV003921212]|not provided [RCV001555503]|not specified [RCV001726584] |
Chr1:152313392 [GRCh38]
Chr1:152285868 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.10691G>A (p.Arg3564His) |
single nucleotide variant |
not provided [RCV001674747] |
Chr1:152304195 [GRCh38]
Chr1:152276671 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.*179C>T |
single nucleotide variant |
not provided [RCV001696409] |
Chr1:152302521 [GRCh38]
Chr1:152274997 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10735A>G (p.Thr3579Ala) |
single nucleotide variant |
not provided [RCV001657585] |
Chr1:152304151 [GRCh38]
Chr1:152276627 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2794C>A (p.Gln932Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004039395]|not provided [RCV001573013] |
Chr1:152312092 [GRCh38]
Chr1:152284568 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.2786G>T (p.Gly929Val) |
single nucleotide variant |
FLG-related disorder [RCV003980707]|not provided [RCV001573302] |
Chr1:152312100 [GRCh38]
Chr1:152284576 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4568C>T (p.Thr1523Ile) |
single nucleotide variant |
not provided [RCV001718431] |
Chr1:152310318 [GRCh38]
Chr1:152282794 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5414C>T (p.Ala1805Val) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339704]|not provided [RCV001652360] |
Chr1:152309472 [GRCh38]
Chr1:152281948 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6226G>A (p.Ala2076Thr) |
single nucleotide variant |
not provided [RCV001609690] |
Chr1:152308660 [GRCh38]
Chr1:152281136 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10746C>A (p.His3582Gln) |
single nucleotide variant |
not provided [RCV001552443] |
Chr1:152304140 [GRCh38]
Chr1:152276616 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10491T>C (p.Asp3497=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339690]|not provided [RCV001617057] |
Chr1:152304395 [GRCh38]
Chr1:152276871 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9315C>T (p.Tyr3105=) |
single nucleotide variant |
not provided [RCV001618881] |
Chr1:152305571 [GRCh38]
Chr1:152278047 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.138+202A>T |
single nucleotide variant |
not provided [RCV001621897] |
Chr1:152315117 [GRCh38]
Chr1:152287593 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.12090G>A (p.Thr4030=) |
single nucleotide variant |
FLG-related disorder [RCV003910908]|not provided [RCV001583152] |
Chr1:152302796 [GRCh38]
Chr1:152275272 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.1603T>C (p.Ser535Pro) |
single nucleotide variant |
not provided [RCV001592748] |
Chr1:152313283 [GRCh38]
Chr1:152285759 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7006C>T (p.Gln2336Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001781115] |
Chr1:152307880 [GRCh38]
Chr1:152280356 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.76G>A (p.Asp26Asn) |
single nucleotide variant |
not provided [RCV000886323] |
Chr1:152315381 [GRCh38]
Chr1:152287857 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.3442C>A (p.Gln1148Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002748865] |
Chr1:152311444 [GRCh38]
Chr1:152283920 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8692G>C (p.Glu2898Gln) |
single nucleotide variant |
not provided [RCV001577430] |
Chr1:152306194 [GRCh38]
Chr1:152278670 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1828G>A (p.Gly610Arg) |
single nucleotide variant |
not provided [RCV001557043] |
Chr1:152313058 [GRCh38]
Chr1:152285534 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7252G>A (p.Val2418Met) |
single nucleotide variant |
not provided [RCV001562294] |
Chr1:152307634 [GRCh38]
Chr1:152280110 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8529T>C (p.Asn2843=) |
single nucleotide variant |
not provided [RCV001575400] |
Chr1:152306357 [GRCh38]
Chr1:152278833 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5716T>G (p.Ser1906Ala) |
single nucleotide variant |
not provided [RCV001575120] |
Chr1:152309170 [GRCh38]
Chr1:152281646 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5387_5967del (p.Gln1796fs) |
deletion |
not provided [RCV003231793] |
Chr1:152308919..152309499 [GRCh38]
Chr1:152281395..152281975 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5198C>G (p.Ser1733Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001614469] |
Chr1:152309688 [GRCh38]
Chr1:152282164 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8548G>A (p.Gly2850Ser) |
single nucleotide variant |
not provided [RCV001669526] |
Chr1:152306338 [GRCh38]
Chr1:152278814 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10925T>C (p.Ile3642Thr) |
single nucleotide variant |
not provided [RCV001572807]|not specified [RCV001727877] |
Chr1:152303961 [GRCh38]
Chr1:152276437 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.5828T>A (p.Leu1943His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339677]|not provided [RCV001572884]|not specified [RCV001724357] |
Chr1:152309058 [GRCh38]
Chr1:152281534 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.6574A>C (p.Lys2192Gln) |
single nucleotide variant |
not provided [RCV001636150] |
Chr1:152308312 [GRCh38]
Chr1:152280788 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8597A>T (p.Asp2866Val) |
single nucleotide variant |
not provided [RCV001555456] |
Chr1:152306289 [GRCh38]
Chr1:152278765 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10123C>T (p.Arg3375Trp) |
single nucleotide variant |
not provided [RCV001546749] |
Chr1:152304763 [GRCh38]
Chr1:152277239 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5718A>G (p.Ser1906=) |
single nucleotide variant |
not provided [RCV001550283] |
Chr1:152309168 [GRCh38]
Chr1:152281644 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2589G>C (p.Arg863Ser) |
single nucleotide variant |
FLG-related disorder [RCV003921239]|not provided [RCV001573654] |
Chr1:152312297 [GRCh38]
Chr1:152284773 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1741A>T (p.Thr581Ser) |
single nucleotide variant |
FLG-related disorder [RCV003966211]|not provided [RCV001573736] |
Chr1:152313145 [GRCh38]
Chr1:152285621 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.8660A>C (p.Gln2887Pro) |
single nucleotide variant |
not provided [RCV001573784]|not specified [RCV001727897] |
Chr1:152306226 [GRCh38]
Chr1:152278702 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.10807G>A (p.Ala3603Thr) |
single nucleotide variant |
not provided [RCV001569186] |
Chr1:152304079 [GRCh38]
Chr1:152276555 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9151C>T (p.Arg3051Trp) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339679]|Inborn genetic diseases [RCV003161127]|not provided [RCV001574438] |
Chr1:152305735 [GRCh38]
Chr1:152278211 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8964C>G (p.Ser2988Arg) |
single nucleotide variant |
not provided [RCV001556267] |
Chr1:152305922 [GRCh38]
Chr1:152278398 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11042C>T (p.Ala3681Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003242667] |
Chr1:152303844 [GRCh38]
Chr1:152276320 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8307G>C (p.Gln2769His) |
single nucleotide variant |
Autosomal dominant ichthyosis vulgaris [RCV002471783] |
Chr1:152306579 [GRCh38]
Chr1:152279055 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9815_9818del (p.Arg3272fs) |
deletion |
Ichthyosis vulgaris [RCV004789312]|not provided [RCV001008323] |
Chr1:152305068..152305071 [GRCh38]
Chr1:152277544..152277547 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1778C>T (p.Ser593Phe) |
single nucleotide variant |
not provided [RCV004810141] |
Chr1:152313108 [GRCh38]
Chr1:152285584 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3419G>A (p.Arg1140Gln) |
single nucleotide variant |
not provided [RCV001540830] |
Chr1:152311467 [GRCh38]
Chr1:152283943 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5455T>C (p.Ser1819Pro) |
single nucleotide variant |
not provided [RCV001528865] |
Chr1:152309431 [GRCh38]
Chr1:152281907 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.149A>G (p.Asp50Gly) |
single nucleotide variant |
FLG-related disorder [RCV003956299]|not provided [RCV001618000] |
Chr1:152314737 [GRCh38]
Chr1:152287213 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9117C>G (p.Ser3039=) |
single nucleotide variant |
not provided [RCV001654120] |
Chr1:152305769 [GRCh38]
Chr1:152278245 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4463C>A (p.Thr1488Asn) |
single nucleotide variant |
not provided [RCV001657173] |
Chr1:152310423 [GRCh38]
Chr1:152282899 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6218A>G (p.Lys2073Arg) |
single nucleotide variant |
not provided [RCV001538084] |
Chr1:152308668 [GRCh38]
Chr1:152281144 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6623C>T (p.Ser2208Leu) |
single nucleotide variant |
not provided [RCV001589559] |
Chr1:152308263 [GRCh38]
Chr1:152280739 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7398G>A (p.Pro2466=) |
single nucleotide variant |
not provided [RCV001677983] |
Chr1:152307488 [GRCh38]
Chr1:152279964 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10672T>C (p.Ser3558Pro) |
single nucleotide variant |
not specified [RCV001723333] |
Chr1:152304214 [GRCh38]
Chr1:152276690 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10262G>A (p.Ser3421Asn) |
single nucleotide variant |
not provided [RCV001727992]|not specified [RCV001723377] |
Chr1:152304624 [GRCh38]
Chr1:152277100 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.7330A>G (p.Lys2444Glu) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339684]|not provided [RCV001595949] |
Chr1:152307556 [GRCh38]
Chr1:152280032 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7097G>C (p.Ser2366Thr) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339710]|not provided [RCV001678129] |
Chr1:152307789 [GRCh38]
Chr1:152280265 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6134G>C (p.Ser2045Thr) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339711]|not provided [RCV001675330] |
Chr1:152308752 [GRCh38]
Chr1:152281228 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10590G>T (p.Arg3530Ser) |
single nucleotide variant |
not provided [RCV001639544] |
Chr1:152304296 [GRCh38]
Chr1:152276772 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.11080G>C (p.Glu3694Gln) |
single nucleotide variant |
not provided [RCV001594133] |
Chr1:152303806 [GRCh38]
Chr1:152276282 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6697C>T (p.Pro2233Ser) |
single nucleotide variant |
not provided [RCV001598063] |
Chr1:152308189 [GRCh38]
Chr1:152280665 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4550A>C (p.Tyr1517Ser) |
single nucleotide variant |
not provided [RCV001590157] |
Chr1:152310336 [GRCh38]
Chr1:152282812 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6058T>G (p.Ser2020Ala) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339712]|not provided [RCV001675458] |
Chr1:152308828 [GRCh38]
Chr1:152281304 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6355T>C (p.Tyr2119His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339683]|not provided [RCV001595734] |
Chr1:152308531 [GRCh38]
Chr1:152281007 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9645G>T (p.Val3215=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339702]|not provided [RCV001642153] |
Chr1:152305241 [GRCh38]
Chr1:152277717 [GRCh37]
Chr1:1q21.3 |
benign |
| GRCh37/hg19 1q21.3(chr1:152227976-152312326)x1 |
copy number loss |
not provided [RCV001005140] |
Chr1:152227976..152312326 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8750G>T (p.Gly2917Val) |
single nucleotide variant |
not provided [RCV001714953] |
Chr1:152306136 [GRCh38]
Chr1:152278612 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7192G>C (p.Glu2398Gln) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339691]|not provided [RCV001637766] |
Chr1:152307694 [GRCh38]
Chr1:152280170 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10663T>C (p.Trp3555Arg) |
single nucleotide variant |
not provided [RCV001677877] |
Chr1:152304223 [GRCh38]
Chr1:152276699 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4452C>G (p.Asp1484Glu) |
single nucleotide variant |
not provided [RCV001694901] |
Chr1:152310434 [GRCh38]
Chr1:152282910 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10779G>C (p.Glu3593Asp) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339717]|not provided [RCV001687346] |
Chr1:152304107 [GRCh38]
Chr1:152276583 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.1330G>A (p.Gly444Arg) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339705]|not provided [RCV001657079] |
Chr1:152313556 [GRCh38]
Chr1:152286032 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6045C>A (p.Asp2015Glu) |
single nucleotide variant |
not provided [RCV001657353] |
Chr1:152308841 [GRCh38]
Chr1:152281317 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6498T>C (p.Ser2166=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339686]|not provided [RCV001596260] |
Chr1:152308388 [GRCh38]
Chr1:152280864 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.1255G>A (p.Gly419Ser) |
single nucleotide variant |
FLG-related disorder [RCV003913325]|not provided [RCV001710311] |
Chr1:152313631 [GRCh38]
Chr1:152286107 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.138+40_138+42del |
deletion |
not provided [RCV001687804] |
Chr1:152315277..152315279 [GRCh38]
Chr1:152287753..152287755 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8768T>G (p.Leu2923Arg) |
single nucleotide variant |
not provided [RCV001659160] |
Chr1:152306118 [GRCh38]
Chr1:152278594 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10736C>G (p.Thr3579Arg) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339688]|not provided [RCV001608530] |
Chr1:152304150 [GRCh38]
Chr1:152276626 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6220G>C (p.Glu2074Gln) |
single nucleotide variant |
not provided [RCV001541191] |
Chr1:152308666 [GRCh38]
Chr1:152281142 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.6455C>A (p.Ser2152Tyr) |
single nucleotide variant |
not provided [RCV001710255] |
Chr1:152308431 [GRCh38]
Chr1:152280907 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10691G>T (p.Arg3564Leu) |
single nucleotide variant |
not provided [RCV001644394] |
Chr1:152304195 [GRCh38]
Chr1:152276671 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6787G>A (p.Ala2263Thr) |
single nucleotide variant |
not provided [RCV001614147] |
Chr1:152308099 [GRCh38]
Chr1:152280575 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.11485C>T (p.Arg3829Cys) |
single nucleotide variant |
not provided [RCV001691197] |
Chr1:152303401 [GRCh38]
Chr1:152275877 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7676C>A (p.Thr2559Lys) |
single nucleotide variant |
not provided [RCV001584632] |
Chr1:152307210 [GRCh38]
Chr1:152279686 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2073A>G (p.Gly691=) |
single nucleotide variant |
FLG-related disorder [RCV003948653]|not provided [RCV001644534] |
Chr1:152312813 [GRCh38]
Chr1:152285289 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.11909C>T (p.Ser3970Leu) |
single nucleotide variant |
not provided [RCV001609895] |
Chr1:152302977 [GRCh38]
Chr1:152275453 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6626A>G (p.His2209Arg) |
single nucleotide variant |
not provided [RCV001708976] |
Chr1:152308260 [GRCh38]
Chr1:152280736 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6803A>G (p.His2268Arg) |
single nucleotide variant |
not provided [RCV001566007]|not specified [RCV001727873] |
Chr1:152308083 [GRCh38]
Chr1:152280559 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.10601A>G (p.Asn3534Ser) |
single nucleotide variant |
not provided [RCV001572770] |
Chr1:152304285 [GRCh38]
Chr1:152276761 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6716G>A (p.Arg2239Gln) |
single nucleotide variant |
not provided [RCV001650369] |
Chr1:152308170 [GRCh38]
Chr1:152280646 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10136G>C (p.Arg3379Thr) |
single nucleotide variant |
not provided [RCV001573200] |
Chr1:152304750 [GRCh38]
Chr1:152277226 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.974C>T (p.Ala325Val) |
single nucleotide variant |
not provided [RCV001536945] |
Chr1:152313912 [GRCh38]
Chr1:152286388 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6604G>A (p.Gly2202Ser) |
single nucleotide variant |
not provided [RCV001573514]|not specified [RCV001725232] |
Chr1:152308282 [GRCh38]
Chr1:152280758 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.3500C>G (p.Ala1167Gly) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339724]|not provided [RCV001725525] |
Chr1:152311386 [GRCh38]
Chr1:152283862 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5355C>G (p.Ser1785Arg) |
single nucleotide variant |
not provided [RCV001574066]|not specified [RCV001724370] |
Chr1:152309531 [GRCh38]
Chr1:152282007 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.5839T>G (p.Trp1947Gly) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339714]|not provided [RCV001680416]|not specified [RCV001724384] |
Chr1:152309047 [GRCh38]
Chr1:152281523 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5672G>A (p.Arg1891Gln) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339703]|not provided [RCV001649617] |
Chr1:152309214 [GRCh38]
Chr1:152281690 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.3551C>T (p.Ser1184Leu) |
single nucleotide variant |
not provided [RCV001696622] |
Chr1:152311335 [GRCh38]
Chr1:152283811 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4309C>T (p.Arg1437Cys) |
single nucleotide variant |
not provided [RCV001171763] |
Chr1:152310577 [GRCh38]
Chr1:152283053 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10670G>A (p.Gly3557Glu) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001195951] |
Chr1:152304216 [GRCh38]
Chr1:152276692 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8297G>A (p.Arg2766His) |
single nucleotide variant |
not provided [RCV001545418] |
Chr1:152306589 [GRCh38]
Chr1:152279065 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5476G>T (p.Gly1826Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001262285] |
Chr1:152309410 [GRCh38]
Chr1:152281886 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9115T>C (p.Ser3039Pro) |
single nucleotide variant |
not provided [RCV001641575] |
Chr1:152305771 [GRCh38]
Chr1:152278247 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7663G>T (p.Glu2555Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV003989175] |
Chr1:152307223 [GRCh38]
Chr1:152279699 [GRCh37]
Chr1:1q21.3 |
pathogenic|uncertain significance |
| NM_002016.2(FLG):c.9781A>T (p.Arg3261Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001334990] |
Chr1:152305105 [GRCh38]
Chr1:152277581 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.6655del (p.Ser2219fs) |
deletion |
Ichthyosis vulgaris [RCV001292873] |
Chr1:152308231 [GRCh38]
Chr1:152280707 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1993G>A (p.Glu665Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002543554]|not provided [RCV001310540] |
Chr1:152312893 [GRCh38]
Chr1:152285369 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.4538del (p.Gly1513fs) |
deletion |
Ichthyosis vulgaris [RCV001333994] |
Chr1:152310348 [GRCh38]
Chr1:152282824 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.9536T>G (p.Val3179Gly) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339664]|not provided [RCV001619936]|not specified [RCV001529874] |
Chr1:152305350 [GRCh38]
Chr1:152277826 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6354T>C (p.His2118=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339670]|not provided [RCV001536980] |
Chr1:152308532 [GRCh38]
Chr1:152281008 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.139-84G>C |
single nucleotide variant |
not provided [RCV001641752] |
Chr1:152314831 [GRCh38]
Chr1:152287307 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.11530C>T (p.Gln3844Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001336423] |
Chr1:152303356 [GRCh38]
Chr1:152275832 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8671G>T (p.Val2891Leu) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001328909]|not provided [RCV004691415] |
Chr1:152306215 [GRCh38]
Chr1:152278691 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4677A>G (p.Ser1559=) |
single nucleotide variant |
not provided [RCV004597689] |
Chr1:152310209 [GRCh38]
Chr1:152282685 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) |
microsatellite |
Autosomal dominant ichthyosis vulgaris [RCV002471266]|Ichthyosis vulgaris [RCV002249989]|not provided [RCV004572087] |
Chr1:152311909..152311910 [GRCh38]
Chr1:152284385..152284386 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004796610]|Ichthyosis vulgaris [RCV001333999]|not provided [RCV004719136] |
Chr1:152309518 [GRCh38]
Chr1:152281994 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7945del (p.Ser2649fs) |
deletion |
Dermatitis, atopic, 2 [RCV004796604]|Ichthyosis vulgaris [RCV001328907]|not provided [RCV002464448] |
Chr1:152306941 [GRCh38]
Chr1:152279417 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.8497G>T (p.Gly2833Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001328908]|not provided [RCV004727151] |
Chr1:152306389 [GRCh38]
Chr1:152278865 [GRCh37]
Chr1:1q21.3 |
pathogenic|uncertain significance |
| NM_002016.2(FLG):c.4597G>T (p.Gly1533Trp) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001333996] |
Chr1:152310289 [GRCh38]
Chr1:152282765 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4966C>T (p.Arg1656Cys) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001333998] |
Chr1:152309920 [GRCh38]
Chr1:152282396 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6321dup (p.Ala2108fs) |
duplication |
not provided [RCV002469497] |
Chr1:152308564..152308565 [GRCh38]
Chr1:152281040..152281041 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4222C>A (p.Gln1408Lys) |
single nucleotide variant |
not provided [RCV001536962] |
Chr1:152310664 [GRCh38]
Chr1:152283140 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.947C>A (p.Ser316Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001328910] |
Chr1:152313939 [GRCh38]
Chr1:152286415 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NC_000001.11:g.152313740_152351227dup |
duplication |
Megacolon [RCV001290040] |
Chr1:152313739..152313740 [GRCh38]
Chr1:152286215..152286216 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10747G>A (p.Glu3583Lys) |
single nucleotide variant |
Autosomal dominant ichthyosis vulgaris [RCV001354565]|Inborn genetic diseases [RCV004036713] |
Chr1:152304139 [GRCh38]
Chr1:152276615 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7082G>A (p.Arg2361Gln) |
single nucleotide variant |
not provided [RCV001355836] |
Chr1:152307804 [GRCh38]
Chr1:152280280 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4960G>C (p.Gly1654Arg) |
single nucleotide variant |
not provided [RCV001356801] |
Chr1:152309926 [GRCh38]
Chr1:152282402 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8635G>C (p.Glu2879Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002547682]|not provided [RCV001358049] |
Chr1:152306251 [GRCh38]
Chr1:152278727 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.7243C>A (p.Leu2415Ile) |
single nucleotide variant |
not provided [RCV001357035] |
Chr1:152307643 [GRCh38]
Chr1:152280119 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5368C>G (p.Gln1790Glu) |
single nucleotide variant |
not provided [RCV001310539] |
Chr1:152309518 [GRCh38]
Chr1:152281994 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10912A>T (p.Arg3638Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001336422] |
Chr1:152303974 [GRCh38]
Chr1:152276450 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4820_4821del (p.Asp1606_Ser1607insTer) |
microsatellite |
Ichthyosis vulgaris [RCV001333997] |
Chr1:152310065..152310066 [GRCh38]
Chr1:152282541..152282542 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7003dup (p.Gln2335fs) |
duplication |
Ichthyosis vulgaris [RCV001334004] |
Chr1:152307882..152307883 [GRCh38]
Chr1:152280358..152280359 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7459C>A (p.His2487Asn) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001328906]|Inborn genetic diseases [RCV004035656] |
Chr1:152307427 [GRCh38]
Chr1:152279903 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5840G>A (p.Trp1947Ter) |
single nucleotide variant |
not provided [RCV001590217] |
Chr1:152309046 [GRCh38]
Chr1:152281522 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NM_002016.2(FLG):c.8590_8591del (p.His2864fs) |
deletion |
not specified [RCV001733584] |
Chr1:152306295..152306296 [GRCh38]
Chr1:152278771..152278772 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely benign |
| NM_002016.2(FLG):c.8593_8594insGG (p.Ala2865fs) |
insertion |
not specified [RCV001733585] |
Chr1:152306292..152306293 [GRCh38]
Chr1:152278768..152278769 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely benign |
| NM_002016.2(FLG):c.10849C>T (p.Gln3617Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV001336421] |
Chr1:152304037 [GRCh38]
Chr1:152276513 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.11539C>T (p.Gln3847Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001336424] |
Chr1:152303347 [GRCh38]
Chr1:152275823 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8509G>C (p.Ala2837Pro) |
single nucleotide variant |
not provided [RCV001358368] |
Chr1:152306377 [GRCh38]
Chr1:152278853 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2761G>A (p.Asp921Asn) |
single nucleotide variant |
not provided [RCV001356847] |
Chr1:152312125 [GRCh38]
Chr1:152284601 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1020T>A (p.Asp340Glu) |
single nucleotide variant |
not provided [RCV001356970] |
Chr1:152313866 [GRCh38]
Chr1:152286342 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7946G>C (p.Ser2649Thr) |
single nucleotide variant |
not provided [RCV001354532] |
Chr1:152306940 [GRCh38]
Chr1:152279416 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.1018G>C (p.Asp340His) |
single nucleotide variant |
Inborn genetic diseases [RCV002547665]|not provided [RCV001357569] |
Chr1:152313868 [GRCh38]
Chr1:152286344 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.6462A>C (p.Gln2154His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339662]|not provided [RCV001528022] |
Chr1:152308424 [GRCh38]
Chr1:152280900 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6323C>T (p.Ala2108Val) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339668]|not provided [RCV001536771] |
Chr1:152308563 [GRCh38]
Chr1:152281039 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6990C>T (p.His2330=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339669]|not provided [RCV001536965] |
Chr1:152307896 [GRCh38]
Chr1:152280372 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs) |
deletion |
Ichthyosis vulgaris [RCV001781119] |
Chr1:152304832..152304835 [GRCh38]
Chr1:152277308..152277311 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.7992C>G (p.Ser2664Arg) |
single nucleotide variant |
not provided [RCV001535025] |
Chr1:152306894 [GRCh38]
Chr1:152279370 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8928A>C (p.Glu2976Asp) |
single nucleotide variant |
not provided [RCV001655807]|not specified [RCV001530085] |
Chr1:152305958 [GRCh38]
Chr1:152278434 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4410T>C (p.His1470=) |
single nucleotide variant |
not provided [RCV001645172] |
Chr1:152310476 [GRCh38]
Chr1:152282952 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5617C>A (p.Gln1873Lys) |
single nucleotide variant |
not provided [RCV001619276] |
Chr1:152309269 [GRCh38]
Chr1:152281745 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6580T>C (p.Tyr2194His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339696]|not provided [RCV001648948] |
Chr1:152308306 [GRCh38]
Chr1:152280782 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9313T>G (p.Tyr3105Asp) |
single nucleotide variant |
not provided [RCV001645683] |
Chr1:152305573 [GRCh38]
Chr1:152278049 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.11803T>C (p.Ser3935Pro) |
single nucleotide variant |
not provided [RCV001671068] |
Chr1:152303083 [GRCh38]
Chr1:152275559 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.4533G>C (p.Arg1511Ser) |
single nucleotide variant |
not provided [RCV001613684] |
Chr1:152310353 [GRCh38]
Chr1:152282829 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10764C>T (p.His3588=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339716]|not provided [RCV001687056] |
Chr1:152304122 [GRCh38]
Chr1:152276598 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.3620C>A (p.Ser1207Tyr) |
single nucleotide variant |
not provided [RCV001588781] |
Chr1:152311266 [GRCh38]
Chr1:152283742 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1555C>A (p.His519Asn) |
single nucleotide variant |
FLG-related disorder [RCV003975893]|not provided [RCV001674554] |
Chr1:152313331 [GRCh38]
Chr1:152285807 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5896G>A (p.Gly1966Ser) |
single nucleotide variant |
not provided [RCV001686425] |
Chr1:152308990 [GRCh38]
Chr1:152281466 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10278G>A (p.Ala3426=) |
single nucleotide variant |
not provided [RCV001715232] |
Chr1:152304608 [GRCh38]
Chr1:152277084 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9540A>G (p.Ser3180=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339663]|not provided [RCV001655804]|not specified [RCV001528388] |
Chr1:152305346 [GRCh38]
Chr1:152277822 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6603T>C (p.Asp2201=) |
single nucleotide variant |
not provided [RCV001540465] |
Chr1:152308283 [GRCh38]
Chr1:152280759 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5448C>G (p.His1816Gln) |
single nucleotide variant |
not provided [RCV001694411] |
Chr1:152309438 [GRCh38]
Chr1:152281914 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6671T>A (p.Leu2224Gln) |
single nucleotide variant |
not provided [RCV001617727] |
Chr1:152308215 [GRCh38]
Chr1:152280691 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6891G>C (p.Glu2297Asp) |
single nucleotide variant |
not provided [RCV001709957] |
Chr1:152307995 [GRCh38]
Chr1:152280471 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.1322G>A (p.Gly441Glu) |
single nucleotide variant |
not provided [RCV001654837] |
Chr1:152313564 [GRCh38]
Chr1:152286040 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8506A>C (p.Ser2836Arg) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339698]|not provided [RCV001654261] |
Chr1:152306380 [GRCh38]
Chr1:152278856 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10703A>G (p.Gln3568Arg) |
single nucleotide variant |
not provided [RCV001672283] |
Chr1:152304183 [GRCh38]
Chr1:152276659 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6072T>C (p.His2024=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339709]|not provided [RCV001674639] |
Chr1:152308814 [GRCh38]
Chr1:152281290 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5883C>A (p.His1961Gln) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339719]|not provided [RCV001688216] |
Chr1:152309003 [GRCh38]
Chr1:152281479 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.6748G>C (p.Glu2250Gln) |
single nucleotide variant |
not provided [RCV001540689] |
Chr1:152308138 [GRCh38]
Chr1:152280614 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5871T>C (p.Pro1957=) |
single nucleotide variant |
not provided [RCV001726768] |
Chr1:152309015 [GRCh38]
Chr1:152281491 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11048del (p.Gly3683fs) |
deletion |
Ichthyosis vulgaris [RCV001729983] |
Chr1:152303838 [GRCh38]
Chr1:152276314 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.1378G>T (p.Glu460Ter) |
single nucleotide variant |
not provided [RCV001730293] |
Chr1:152313508 [GRCh38]
Chr1:152285984 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7521C>G (p.His2507Gln) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339727]|not provided [RCV001762813] |
Chr1:152307365 [GRCh38]
Chr1:152279841 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.9966A>G (p.Gln3322=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339729]|not provided [RCV001762815] |
Chr1:152304920 [GRCh38]
Chr1:152277396 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8384G>A (p.Gly2795Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003252431] |
Chr1:152306502 [GRCh38]
Chr1:152278978 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2779C>T (p.Gln927Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001783298] |
Chr1:152312107 [GRCh38]
Chr1:152284583 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.138+1G>C |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV002482306]|Ichthyosis vulgaris [RCV001783297] |
Chr1:152315318 [GRCh38]
Chr1:152287794 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.2131_2137dup (p.Gln713fs) |
duplication |
not provided [RCV002276893] |
Chr1:152312748..152312749 [GRCh38]
Chr1:152285224..152285225 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10054A>G (p.Thr3352Ala) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001785212] |
Chr1:152304832 [GRCh38]
Chr1:152277308 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7442T>C (p.Leu2481Ser) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339726]|not provided [RCV001762812] |
Chr1:152307444 [GRCh38]
Chr1:152279920 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2303C>T (p.Ala768Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003276986] |
Chr1:152312583 [GRCh38]
Chr1:152285059 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8721G>A (p.Trp2907Ter) |
single nucleotide variant |
not provided [RCV001768225] |
Chr1:152306165 [GRCh38]
Chr1:152278641 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1685C>A (p.Ser562Ter) |
single nucleotide variant |
not provided [RCV001786028] |
Chr1:152313201 [GRCh38]
Chr1:152285677 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.5383G>T (p.Glu1795Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV004796662]|not provided [RCV001799941] |
Chr1:152309503 [GRCh38]
Chr1:152281979 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.5839_5840inv (p.Trp1947Gln) |
inversion |
not provided [RCV001753193] |
Chr1:152309046..152309047 [GRCh38]
Chr1:152281522..152281523 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3766C>T (p.Gln1256Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001781118] |
Chr1:152311120 [GRCh38]
Chr1:152283596 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.5134C>T (p.Arg1712Ter) |
single nucleotide variant |
not provided [RCV001799925] |
Chr1:152309752 [GRCh38]
Chr1:152282228 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7633G>A (p.Gly2545Arg) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003339728]|not provided [RCV001762814] |
Chr1:152307253 [GRCh38]
Chr1:152279729 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.8406C>T (p.His2802=) |
single nucleotide variant |
not provided [RCV001795636] |
Chr1:152306480 [GRCh38]
Chr1:152278956 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7942T>C (p.Ser2648Pro) |
single nucleotide variant |
not provided [RCV001795721] |
Chr1:152306944 [GRCh38]
Chr1:152279420 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10348T>C (p.Tyr3450His) |
single nucleotide variant |
not provided [RCV001795752] |
Chr1:152304538 [GRCh38]
Chr1:152277014 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5839T>C (p.Trp1947Arg) |
single nucleotide variant |
not provided [RCV001795760] |
Chr1:152309047 [GRCh38]
Chr1:152281523 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3896G>A (p.Arg1299Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002544334]|not provided [RCV001795762] |
Chr1:152310990 [GRCh38]
Chr1:152283466 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.9539C>A (p.Ser3180Ter) |
single nucleotide variant |
not provided [RCV001786763] |
Chr1:152305347 [GRCh38]
Chr1:152277823 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8166G>A (p.Glu2722=) |
single nucleotide variant |
not provided [RCV001795661]|not specified [RCV001796931] |
Chr1:152306720 [GRCh38]
Chr1:152279196 [GRCh37]
Chr1:1q21.3 |
benign|likely benign |
| NM_002016.2(FLG):c.4194_4197del (p.Ser1398fs) |
deletion |
Ichthyosis vulgaris [RCV001781113] |
Chr1:152310689..152310692 [GRCh38]
Chr1:152283165..152283168 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.11227C>T (p.Arg3743Ter) |
single nucleotide variant |
not provided [RCV001776892] |
Chr1:152303659 [GRCh38]
Chr1:152276135 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2933C>A (p.Ser978Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001814925] |
Chr1:152311953 [GRCh38]
Chr1:152284429 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.4925_4928del (p.Ser1642fs) |
deletion |
Ichthyosis vulgaris [RCV001814785] |
Chr1:152309958..152309961 [GRCh38]
Chr1:152282434..152282437 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.5733C>T (p.Ser1911=) |
single nucleotide variant |
not provided [RCV004809379] |
Chr1:152309153 [GRCh38]
Chr1:152281629 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7595C>T (p.Ser2532Leu) |
single nucleotide variant |
not specified [RCV001825080] |
Chr1:152307291 [GRCh38]
Chr1:152279767 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.482_485del (p.Arg161fs) |
microsatellite |
not provided [RCV001837672] |
Chr1:152314401..152314404 [GRCh38]
Chr1:152286877..152286880 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.6919G>A (p.Ala2307Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003264111]|not provided [RCV001837095] |
Chr1:152307967 [GRCh38]
Chr1:152280443 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.1714C>T (p.Arg572Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003152774]|not provided [RCV002034874] |
Chr1:152313172 [GRCh38]
Chr1:152285648 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NC_000001.10:g.(?_149895434)_(156851434_?)dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]|Kostmann syndrome [RCV003120769]|MHC class II deficiency [RCV001992607] |
Chr1:149895434..156851434 [GRCh37]
Chr1:1q21.2-23.1 |
uncertain significance |
| NM_002016.2(FLG):c.9433T>G (p.Ser3145Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004047219]|not provided [RCV002224779] |
Chr1:152305453 [GRCh38]
Chr1:152277929 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4877C>G (p.Ser1626Ter) |
single nucleotide variant |
not provided [RCV002211102] |
Chr1:152310009 [GRCh38]
Chr1:152282485 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.565G>A (p.Glu189Lys) |
single nucleotide variant |
Ichthyosis vulgaris [RCV002244104] |
Chr1:152314321 [GRCh38]
Chr1:152286797 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3541_3543delinsTAC (p.His1181Tyr) |
indel |
not provided [RCV004777107] |
Chr1:152311343..152311345 [GRCh38]
Chr1:152283819..152283821 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4162C>T (p.Arg1388Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV004785141] |
Chr1:152310724 [GRCh38]
Chr1:152283200 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.4700G>A (p.Arg1567Gln) |
single nucleotide variant |
Ichthyosis vulgaris [RCV004785159] |
Chr1:152310186 [GRCh38]
Chr1:152282662 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2235_2238del (p.Ser745fs) |
deletion |
not provided [RCV004776589] |
Chr1:152312648..152312651 [GRCh38]
Chr1:152285124..152285127 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NC_000001.10:g.(?_151801885)_(152287932_?)dup |
duplication |
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV003116304] |
Chr1:151801885..152287932 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9033C>A (p.Tyr3011Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV004784990] |
Chr1:152305853 [GRCh38]
Chr1:152278329 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.9743G>T (p.Arg3248Met) |
single nucleotide variant |
Ichthyosis vulgaris [RCV004785040] |
Chr1:152305143 [GRCh38]
Chr1:152277619 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.511G>T (p.Glu171Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004797174] |
Chr1:152314375 [GRCh38]
Chr1:152286851 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.4243C>A (p.Gln1415Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003294871] |
Chr1:152310643 [GRCh38]
Chr1:152283119 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9683_9684del (p.Asp3227_Ser3228insTer) |
microsatellite |
not provided [RCV002255060] |
Chr1:152305202..152305203 [GRCh38]
Chr1:152277678..152277679 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3280C>A (p.Pro1094Thr) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003144004] |
Chr1:152311606 [GRCh38]
Chr1:152284082 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10926del (p.Ile3642fs) |
deletion |
Ichthyosis vulgaris [RCV002289221] |
Chr1:152303960 [GRCh38]
Chr1:152276436 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.10074T>C (p.His3358=) |
single nucleotide variant |
not provided [RCV002262243] |
Chr1:152304812 [GRCh38]
Chr1:152277288 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3330G>A (p.Arg1110=) |
single nucleotide variant |
not provided [RCV002292739] |
Chr1:152311556 [GRCh38]
Chr1:152284032 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4239C>G (p.His1413Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003276904] |
Chr1:152310647 [GRCh38]
Chr1:152283123 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2540del (p.Gly846_Ser847insTer) |
deletion |
not provided [RCV002269453] |
Chr1:152312346 [GRCh38]
Chr1:152284822 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8193G>A (p.Thr2731=) |
single nucleotide variant |
not provided [RCV002262244] |
Chr1:152306693 [GRCh38]
Chr1:152279169 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11177G>C (p.Arg3726Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003253598] |
Chr1:152303709 [GRCh38]
Chr1:152276185 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1293C>A (p.Asn431Lys) |
single nucleotide variant |
not provided [RCV002281289] |
Chr1:152313593 [GRCh38]
Chr1:152286069 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5618A>G (p.Gln1873Arg) |
single nucleotide variant |
not provided [RCV002281528] |
Chr1:152309268 [GRCh38]
Chr1:152281744 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11479G>T (p.Gly3827Trp) |
single nucleotide variant |
not provided [RCV002262242] |
Chr1:152303407 [GRCh38]
Chr1:152275883 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5101C>T (p.Gln1701Ter) |
single nucleotide variant |
not provided [RCV002469491] |
Chr1:152309785 [GRCh38]
Chr1:152282261 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.4282C>T (p.Arg1428Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003297668] |
Chr1:152310604 [GRCh38]
Chr1:152283080 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1992C>G (p.His664Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003280757] |
Chr1:152312894 [GRCh38]
Chr1:152285370 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6222G>C (p.Glu2074Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003281651] |
Chr1:152308664 [GRCh38]
Chr1:152281140 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1690T>G (p.Ser564Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003259712] |
Chr1:152313196 [GRCh38]
Chr1:152285672 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5996C>G (p.Ser1999Ter) |
single nucleotide variant |
not provided [RCV003154123] |
Chr1:152308890 [GRCh38]
Chr1:152281366 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3197C>A (p.Ser1066Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003299226] |
Chr1:152311689 [GRCh38]
Chr1:152284165 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1216T>A (p.Ser406Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003280289] |
Chr1:152313670 [GRCh38]
Chr1:152286146 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2504A>C (p.Gln835Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003303971] |
Chr1:152312382 [GRCh38]
Chr1:152284858 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7188C>G (p.His2396Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003303972] |
Chr1:152307698 [GRCh38]
Chr1:152280174 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.160G>C (p.Val54Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003304701] |
Chr1:152314726 [GRCh38]
Chr1:152287202 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1481G>A (p.Gly494Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003285181] |
Chr1:152313405 [GRCh38]
Chr1:152285881 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8032G>T (p.Ala2678Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003264808]|not provided [RCV003410319] |
Chr1:152306854 [GRCh38]
Chr1:152279330 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.10129G>T (p.Gly3377Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002991275] |
Chr1:152304757 [GRCh38]
Chr1:152277233 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8894C>G (p.Ser2965Ter) |
single nucleotide variant |
not provided [RCV002474081] |
Chr1:152305992 [GRCh38]
Chr1:152278468 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003448490]|not provided [RCV003152188] |
Chr1:152311438 [GRCh38]
Chr1:152283914 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3000C>G (p.Asp1000Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002968366] |
Chr1:152311886 [GRCh38]
Chr1:152284362 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5871_5872inv (p.Gly1958Arg) |
inversion |
not provided [RCV002466988] |
Chr1:152309014..152309015 [GRCh38]
Chr1:152281490..152281491 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7597C>T (p.Arg2533Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002749341] |
Chr1:152307289 [GRCh38]
Chr1:152279765 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6229C>T (p.Arg2077Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002990228] |
Chr1:152308657 [GRCh38]
Chr1:152281133 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV002468711] |
Chr1:152304536 [GRCh38]
Chr1:152277012 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.441_442del (p.Gly149fs) |
deletion |
not provided [RCV002301043] |
Chr1:152314444..152314445 [GRCh38]
Chr1:152286920..152286921 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.6834_6838del (p.Ser2279fs) |
deletion |
Dermatitis, atopic, 2 [RCV004796724]|not provided [RCV002306300] |
Chr1:152308048..152308052 [GRCh38]
Chr1:152280524..152280528 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.2806T>C (p.Ser936Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002990649] |
Chr1:152312080 [GRCh38]
Chr1:152284556 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7886G>A (p.Arg2629His) |
single nucleotide variant |
Inborn genetic diseases [RCV002749614] |
Chr1:152307000 [GRCh38]
Chr1:152279476 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8319C>G (p.Ser2773Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002992003] |
Chr1:152306567 [GRCh38]
Chr1:152279043 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.430C>T (p.Pro144Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002771671] |
Chr1:152314456 [GRCh38]
Chr1:152286932 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6136G>A (p.Asp2046Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002840396] |
Chr1:152308750 [GRCh38]
Chr1:152281226 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11714C>T (p.Ser3905Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002906678] |
Chr1:152303172 [GRCh38]
Chr1:152275648 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10335G>C (p.Arg3445Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002969259] |
Chr1:152304551 [GRCh38]
Chr1:152277027 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10738T>C (p.Ser3580Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002727821] |
Chr1:152304148 [GRCh38]
Chr1:152276624 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8747A>G (p.His2916Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002991882] |
Chr1:152306139 [GRCh38]
Chr1:152278615 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1096C>G (p.Arg366Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002837350] |
Chr1:152313790 [GRCh38]
Chr1:152286266 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4049G>T (p.Arg1350Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002754244] |
Chr1:152310837 [GRCh38]
Chr1:152283313 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8266G>C (p.Gly2756Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002968453]|not provided [RCV003410200] |
Chr1:152306620 [GRCh38]
Chr1:152279096 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.2322C>A (p.Ser774Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002992045] |
Chr1:152312564 [GRCh38]
Chr1:152285040 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11248G>A (p.Ala3750Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002860211] |
Chr1:152303638 [GRCh38]
Chr1:152276114 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10323C>G (p.Ser3441Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002973108] |
Chr1:152304563 [GRCh38]
Chr1:152277039 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9236C>T (p.Thr3079Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002837424] |
Chr1:152305650 [GRCh38]
Chr1:152278126 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7634G>T (p.Gly2545Val) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003340653]|Inborn genetic diseases [RCV002968212]|not provided [RCV003223771] |
Chr1:152307252 [GRCh38]
Chr1:152279728 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4829G>A (p.Arg1610Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002772055]|not provided [RCV004721132] |
Chr1:152310057 [GRCh38]
Chr1:152282533 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.5773C>G (p.Gln1925Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002687802]|not provided [RCV003410155] |
Chr1:152309113 [GRCh38]
Chr1:152281589 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7151C>T (p.Ser2384Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002752741] |
Chr1:152307735 [GRCh38]
Chr1:152280211 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6270C>A (p.Phe2090Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003012712] |
Chr1:152308616 [GRCh38]
Chr1:152281092 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1100G>C (p.Gly367Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002989919] |
Chr1:152313786 [GRCh38]
Chr1:152286262 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7208G>C (p.Arg2403Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002772516] |
Chr1:152307678 [GRCh38]
Chr1:152280154 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8383G>A (p.Gly2795Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002945655] |
Chr1:152306503 [GRCh38]
Chr1:152278979 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3461G>C (p.Arg1154Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002859468] |
Chr1:152311425 [GRCh38]
Chr1:152283901 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10886A>G (p.His3629Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002859491] |
Chr1:152304000 [GRCh38]
Chr1:152276476 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6811G>C (p.Ala2271Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002689229] |
Chr1:152308075 [GRCh38]
Chr1:152280551 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6812C>A (p.Ala2271Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002689230] |
Chr1:152308074 [GRCh38]
Chr1:152280550 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10817C>T (p.Ser3606Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002990597]|not provided [RCV003456563] |
Chr1:152304069 [GRCh38]
Chr1:152276545 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.3038C>T (p.Ser1013Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002883106] |
Chr1:152311848 [GRCh38]
Chr1:152284324 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7400G>A (p.Gly2467Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002734572] |
Chr1:152307486 [GRCh38]
Chr1:152279962 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4175G>A (p.Gly1392Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002682992] |
Chr1:152310711 [GRCh38]
Chr1:152283187 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8846A>C (p.Gln2949Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002997424] |
Chr1:152306040 [GRCh38]
Chr1:152278516 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1363C>T (p.Arg455Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002734637] |
Chr1:152313523 [GRCh38]
Chr1:152285999 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6451G>A (p.Gly2151Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002773452] |
Chr1:152308435 [GRCh38]
Chr1:152280911 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10518C>A (p.His3506Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002883258] |
Chr1:152304368 [GRCh38]
Chr1:152276844 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3307G>A (p.Ala1103Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002689702] |
Chr1:152311579 [GRCh38]
Chr1:152284055 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8648G>C (p.Arg2883Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002997874]|not provided [RCV003410230] |
Chr1:152306238 [GRCh38]
Chr1:152278714 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10492G>A (p.Gly3498Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002773670] |
Chr1:152304394 [GRCh38]
Chr1:152276870 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7346G>A (p.Ser2449Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002841014] |
Chr1:152307540 [GRCh38]
Chr1:152280016 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11198G>T (p.Gly3733Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002773906]|not provided [RCV003410254] |
Chr1:152303688 [GRCh38]
Chr1:152276164 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.4385C>T (p.Thr1462Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002794101] |
Chr1:152310501 [GRCh38]
Chr1:152282977 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6317A>G (p.Gln2106Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002794102] |
Chr1:152308569 [GRCh38]
Chr1:152281045 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8174G>A (p.Arg2725His) |
single nucleotide variant |
Inborn genetic diseases [RCV002883476] |
Chr1:152306712 [GRCh38]
Chr1:152279188 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3275A>C (p.Asp1092Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002684126] |
Chr1:152311611 [GRCh38]
Chr1:152284087 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6926A>C (p.Asn2309Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002990221] |
Chr1:152307960 [GRCh38]
Chr1:152280436 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3939A>C (p.Gln1313His) |
single nucleotide variant |
Inborn genetic diseases [RCV002997118] |
Chr1:152310947 [GRCh38]
Chr1:152283423 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6140G>A (p.Ser2047Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002884042] |
Chr1:152308746 [GRCh38]
Chr1:152281222 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3541C>T (p.His1181Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002684688] |
Chr1:152311345 [GRCh38]
Chr1:152283821 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1451G>A (p.Arg484Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002754626] |
Chr1:152313435 [GRCh38]
Chr1:152285911 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1714C>G (p.Arg572Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002687966] |
Chr1:152313172 [GRCh38]
Chr1:152285648 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7921T>A (p.Ser2641Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002973457] |
Chr1:152306965 [GRCh38]
Chr1:152279441 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5852G>T (p.Arg1951Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002972838] |
Chr1:152309034 [GRCh38]
Chr1:152281510 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3100G>A (p.Gly1034Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002773875] |
Chr1:152311786 [GRCh38]
Chr1:152284262 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7910G>T (p.Gly2637Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002968959] |
Chr1:152306976 [GRCh38]
Chr1:152279452 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7728C>A (p.His2576Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002972916] |
Chr1:152307158 [GRCh38]
Chr1:152279634 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10117C>T (p.Arg3373Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002992044] |
Chr1:152304769 [GRCh38]
Chr1:152277245 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11057G>C (p.Gly3686Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002974114] |
Chr1:152303829 [GRCh38]
Chr1:152276305 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8744A>G (p.His2915Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002682539] |
Chr1:152306142 [GRCh38]
Chr1:152278618 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9247A>G (p.Thr3083Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002682570] |
Chr1:152305639 [GRCh38]
Chr1:152278115 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9765G>T (p.Arg3255Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002840450] |
Chr1:152305121 [GRCh38]
Chr1:152277597 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7649G>T (p.Gly2550Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002729526]|not provided [RCV003410240] |
Chr1:152307237 [GRCh38]
Chr1:152279713 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.6131C>T (p.Ala2044Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002840395] |
Chr1:152308755 [GRCh38]
Chr1:152281231 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5972C>T (p.Ala1991Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002683149]|not provided [RCV004763560] |
Chr1:152308914 [GRCh38]
Chr1:152281390 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5629G>A (p.Gly1877Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002945404] |
Chr1:152309257 [GRCh38]
Chr1:152281733 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9722G>T (p.Gly3241Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002816778] |
Chr1:152305164 [GRCh38]
Chr1:152277640 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5581T>A (p.Ser1861Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002777102] |
Chr1:152309305 [GRCh38]
Chr1:152281781 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10345C>T (p.His3449Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002973109] |
Chr1:152304541 [GRCh38]
Chr1:152277017 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1340A>G (p.Gln447Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002858803] |
Chr1:152313546 [GRCh38]
Chr1:152286022 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1157C>G (p.Ser386Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002973129] |
Chr1:152313729 [GRCh38]
Chr1:152286205 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4056T>A (p.Ser1352Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002774419] |
Chr1:152310830 [GRCh38]
Chr1:152283306 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6688T>A (p.Ser2230Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002773475] |
Chr1:152308198 [GRCh38]
Chr1:152280674 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4772G>T (p.Gly1591Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002836522] |
Chr1:152310114 [GRCh38]
Chr1:152282590 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4163G>A (p.Arg1388Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002906242] |
Chr1:152310723 [GRCh38]
Chr1:152283199 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4570C>T (p.Pro1524Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002946553] |
Chr1:152310316 [GRCh38]
Chr1:152282792 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8060A>C (p.Tyr2687Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002946143] |
Chr1:152306826 [GRCh38]
Chr1:152279302 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1073C>T (p.Thr358Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002945293] |
Chr1:152313813 [GRCh38]
Chr1:152286289 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8537A>T (p.Gln2846Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002859052] |
Chr1:152306349 [GRCh38]
Chr1:152278825 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8961C>G (p.Asp2987Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002905781] |
Chr1:152305925 [GRCh38]
Chr1:152278401 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7006C>G (p.Gln2336Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002729114] |
Chr1:152307880 [GRCh38]
Chr1:152280356 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9149G>C (p.Gly3050Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002683825] |
Chr1:152305737 [GRCh38]
Chr1:152278213 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10996G>A (p.Asp3666Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002733065] |
Chr1:152303890 [GRCh38]
Chr1:152276366 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8818C>A (p.His2940Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002794376] |
Chr1:152306068 [GRCh38]
Chr1:152278544 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10183C>G (p.Gln3395Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002732415] |
Chr1:152304703 [GRCh38]
Chr1:152277179 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6334G>A (p.Gly2112Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002794103] |
Chr1:152308552 [GRCh38]
Chr1:152281028 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5875T>A (p.Ser1959Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002992954] |
Chr1:152309011 [GRCh38]
Chr1:152281487 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5146G>A (p.Gly1716Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002777715] |
Chr1:152309740 [GRCh38]
Chr1:152282216 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5045G>A (p.Gly1682Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002734453] |
Chr1:152309841 [GRCh38]
Chr1:152282317 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9889A>C (p.Ser3297Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002817862] |
Chr1:152304997 [GRCh38]
Chr1:152277473 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10070G>C (p.Gly3357Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002946050] |
Chr1:152304816 [GRCh38]
Chr1:152277292 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5962G>A (p.Gly1988Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002774629] |
Chr1:152308924 [GRCh38]
Chr1:152281400 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.434G>A (p.Arg145Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002688912] |
Chr1:152314452 [GRCh38]
Chr1:152286928 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9206A>C (p.His3069Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002901736] |
Chr1:152305680 [GRCh38]
Chr1:152278156 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9764G>C (p.Arg3255Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002793407] |
Chr1:152305122 [GRCh38]
Chr1:152277598 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6399G>T (p.Glu2133Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002947050] |
Chr1:152308487 [GRCh38]
Chr1:152280963 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7739C>G (p.Ser2580Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002729816] |
Chr1:152307147 [GRCh38]
Chr1:152279623 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11941A>G (p.Ser3981Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002974294]|not provided [RCV003992732] |
Chr1:152302945 [GRCh38]
Chr1:152275421 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.8441C>T (p.Ser2814Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002974752] |
Chr1:152306445 [GRCh38]
Chr1:152278921 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10329A>T (p.Arg3443Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002925934] |
Chr1:152304557 [GRCh38]
Chr1:152277033 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5641T>G (p.Ser1881Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002762259] |
Chr1:152309245 [GRCh38]
Chr1:152281721 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4115G>A (p.Gly1372Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002696389] |
Chr1:152310771 [GRCh38]
Chr1:152283247 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8024C>T (p.Ala2675Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002849522] |
Chr1:152306862 [GRCh38]
Chr1:152279338 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7202G>C (p.Arg2401Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002784877] |
Chr1:152307684 [GRCh38]
Chr1:152280160 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9152G>A (p.Arg3051Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002704231] |
Chr1:152305734 [GRCh38]
Chr1:152278210 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8054G>A (p.Arg2685Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002926404] |
Chr1:152306832 [GRCh38]
Chr1:152279308 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6998A>G (p.His2333Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002924810] |
Chr1:152307888 [GRCh38]
Chr1:152280364 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7201C>A (p.Arg2401Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002784417] |
Chr1:152307685 [GRCh38]
Chr1:152280161 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4118T>C (p.Ile1373Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002978233] |
Chr1:152310768 [GRCh38]
Chr1:152283244 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2182G>A (p.Gly728Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002822799] |
Chr1:152312704 [GRCh38]
Chr1:152285180 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10121A>G (p.Asp3374Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002980169] |
Chr1:152304765 [GRCh38]
Chr1:152277241 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9332G>A (p.Arg3111His) |
single nucleotide variant |
Inborn genetic diseases [RCV002783481] |
Chr1:152305554 [GRCh38]
Chr1:152278030 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3833G>C (p.Arg1278Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002926194] |
Chr1:152311053 [GRCh38]
Chr1:152283529 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10731C>G (p.His3577Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002911284] |
Chr1:152304155 [GRCh38]
Chr1:152276631 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3276T>A (p.Asp1092Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002868513] |
Chr1:152311610 [GRCh38]
Chr1:152284086 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3707G>A (p.Arg1236His) |
single nucleotide variant |
Inborn genetic diseases [RCV002976989] |
Chr1:152311179 [GRCh38]
Chr1:152283655 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11839C>A (p.Arg3947Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002782143] |
Chr1:152303047 [GRCh38]
Chr1:152275523 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1244G>T (p.Arg415Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002783564] |
Chr1:152313642 [GRCh38]
Chr1:152286118 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7419G>T (p.Arg2473Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002694463] |
Chr1:152307467 [GRCh38]
Chr1:152279943 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10615G>T (p.Val3539Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002781743] |
Chr1:152304271 [GRCh38]
Chr1:152276747 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4864G>C (p.Ala1622Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002757228] |
Chr1:152310022 [GRCh38]
Chr1:152282498 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4330C>G (p.Gln1444Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002782626] |
Chr1:152310556 [GRCh38]
Chr1:152283032 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.440C>T (p.Thr147Ile) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003340650]|Inborn genetic diseases [RCV002782931]|not provided [RCV003151917] |
Chr1:152314446 [GRCh38]
Chr1:152286922 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8260T>C (p.Trp2754Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002739273] |
Chr1:152306626 [GRCh38]
Chr1:152279102 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4344T>G (p.His1448Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002926198] |
Chr1:152310542 [GRCh38]
Chr1:152283018 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11989G>C (p.Gly3997Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002926199] |
Chr1:152302897 [GRCh38]
Chr1:152275373 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7991G>C (p.Ser2664Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002757475] |
Chr1:152306895 [GRCh38]
Chr1:152279371 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9056A>G (p.Asn3019Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002693394] |
Chr1:152305830 [GRCh38]
Chr1:152278306 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2444G>C (p.Gly815Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002888887] |
Chr1:152312442 [GRCh38]
Chr1:152284918 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8251T>A (p.Ser2751Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002692611]|not provided [RCV003410163] |
Chr1:152306635 [GRCh38]
Chr1:152279111 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1945G>T (p.Ala649Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003001400] |
Chr1:152312941 [GRCh38]
Chr1:152285417 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.847C>A (p.Pro283Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002783095] |
Chr1:152314039 [GRCh38]
Chr1:152286515 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6756C>A (p.His2252Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002977200] |
Chr1:152308130 [GRCh38]
Chr1:152280606 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5401T>C (p.Ser1801Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002978474]|not provided [RCV003410219] |
Chr1:152309485 [GRCh38]
Chr1:152281961 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.2057A>C (p.Gln686Pro) |
single nucleotide variant |
Ichthyosis vulgaris [RCV004786864]|Inborn genetic diseases [RCV002980687] |
Chr1:152312829 [GRCh38]
Chr1:152285305 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9905A>T (p.His3302Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002910727] |
Chr1:152304981 [GRCh38]
Chr1:152277457 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8264C>T (p.Thr2755Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002951281] |
Chr1:152306622 [GRCh38]
Chr1:152279098 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8293T>C (p.Ser2765Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002661133] |
Chr1:152306593 [GRCh38]
Chr1:152279069 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9830G>A (p.Arg3277His) |
single nucleotide variant |
Inborn genetic diseases [RCV002926526] |
Chr1:152305056 [GRCh38]
Chr1:152277532 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10872G>C (p.Glu3624Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002662112] |
Chr1:152304014 [GRCh38]
Chr1:152276490 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6715C>T (p.Arg2239Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002951311] |
Chr1:152308171 [GRCh38]
Chr1:152280647 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3819C>G (p.Asp1273Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002737499] |
Chr1:152311067 [GRCh38]
Chr1:152283543 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7131C>G (p.Asp2377Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002738676] |
Chr1:152307755 [GRCh38]
Chr1:152280231 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5939G>A (p.Arg1980His) |
single nucleotide variant |
Inborn genetic diseases [RCV002822784] |
Chr1:152308947 [GRCh38]
Chr1:152281423 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6892A>C (p.Ser2298Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002998641] |
Chr1:152307994 [GRCh38]
Chr1:152280470 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6554G>A (p.Gly2185Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002704014] |
Chr1:152308332 [GRCh38]
Chr1:152280808 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4223A>G (p.Gln1408Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002822028] |
Chr1:152310663 [GRCh38]
Chr1:152283139 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1881T>A (p.Ser627Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002888623] |
Chr1:152313005 [GRCh38]
Chr1:152285481 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4630A>G (p.Thr1544Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002976990] |
Chr1:152310256 [GRCh38]
Chr1:152282732 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10477G>A (p.Glu3493Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002704738] |
Chr1:152304409 [GRCh38]
Chr1:152276885 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7646T>C (p.Val2549Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002693519]|not provided [RCV003410239] |
Chr1:152307240 [GRCh38]
Chr1:152279716 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.7552C>G (p.Arg2518Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002660663] |
Chr1:152307334 [GRCh38]
Chr1:152279810 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9956C>T (p.Pro3319Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002951677] |
Chr1:152304930 [GRCh38]
Chr1:152277406 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9026G>A (p.Arg3009Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002950855] |
Chr1:152305860 [GRCh38]
Chr1:152278336 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.155A>T (p.Asp52Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002738613] |
Chr1:152314731 [GRCh38]
Chr1:152287207 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3410G>T (p.Ser1137Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002799867] |
Chr1:152311476 [GRCh38]
Chr1:152283952 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8563G>C (p.Gly2855Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002998163] |
Chr1:152306323 [GRCh38]
Chr1:152278799 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2921C>T (p.Ala974Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003000370] |
Chr1:152311965 [GRCh38]
Chr1:152284441 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1456G>A (p.Gly486Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002744961] |
Chr1:152313430 [GRCh38]
Chr1:152285906 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3323G>C (p.Gly1108Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002854466] |
Chr1:152311563 [GRCh38]
Chr1:152284039 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7835A>G (p.Asp2612Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003003705] |
Chr1:152307051 [GRCh38]
Chr1:152279527 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2636G>T (p.Arg879Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002987414] |
Chr1:152312250 [GRCh38]
Chr1:152284726 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3716A>C (p.Glu1239Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002803598] |
Chr1:152311170 [GRCh38]
Chr1:152283646 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8845C>A (p.Gln2949Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002768363]|not provided [RCV003410170] |
Chr1:152306041 [GRCh38]
Chr1:152278517 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.9664G>C (p.Glu3222Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002956876] |
Chr1:152305222 [GRCh38]
Chr1:152277698 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2386C>G (p.Gln796Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002875082] |
Chr1:152312500 [GRCh38]
Chr1:152284976 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3003C>G (p.Ser1001Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002742937] |
Chr1:152311883 [GRCh38]
Chr1:152284359 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9923A>T (p.Gln3308Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002984748] |
Chr1:152304963 [GRCh38]
Chr1:152277439 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7432T>C (p.Tyr2478His) |
single nucleotide variant |
Inborn genetic diseases [RCV002873387] |
Chr1:152307454 [GRCh38]
Chr1:152279930 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7220G>A (p.Arg2407Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003003884] |
Chr1:152307666 [GRCh38]
Chr1:152280142 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7847A>G (p.His2616Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002763500] |
Chr1:152307039 [GRCh38]
Chr1:152279515 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4363C>T (p.His1455Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002929656] |
Chr1:152310523 [GRCh38]
Chr1:152282999 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8493G>C (p.Gln2831His) |
single nucleotide variant |
Inborn genetic diseases [RCV002743488] |
Chr1:152306393 [GRCh38]
Chr1:152278869 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6319T>A (p.Ser2107Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002826082] |
Chr1:152308567 [GRCh38]
Chr1:152281043 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5891G>A (p.Arg1964Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002930216] |
Chr1:152308995 [GRCh38]
Chr1:152281471 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2224T>C (p.Ser742Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003004017] |
Chr1:152312662 [GRCh38]
Chr1:152285138 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1235G>A (p.Arg412His) |
single nucleotide variant |
Inborn genetic diseases [RCV002665129] |
Chr1:152313651 [GRCh38]
Chr1:152286127 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2200G>A (p.Val734Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003004920] |
Chr1:152312686 [GRCh38]
Chr1:152285162 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11259G>T (p.Glu3753Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002699530] |
Chr1:152303627 [GRCh38]
Chr1:152276103 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9398C>G (p.Ser3133Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002984483] |
Chr1:152305488 [GRCh38]
Chr1:152277964 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3161C>T (p.Ala1054Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002787669] |
Chr1:152311725 [GRCh38]
Chr1:152284201 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11042C>G (p.Ala3681Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002699542] |
Chr1:152303844 [GRCh38]
Chr1:152276320 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11197G>C (p.Gly3733Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002699544] |
Chr1:152303689 [GRCh38]
Chr1:152276165 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9098C>G (p.Ala3033Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002699546] |
Chr1:152305788 [GRCh38]
Chr1:152278264 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9807C>G (p.Asp3269Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002699548] |
Chr1:152305079 [GRCh38]
Chr1:152277555 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9529C>T (p.His3177Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002743321] |
Chr1:152305357 [GRCh38]
Chr1:152277833 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9276G>T (p.Glu3092Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002709750] |
Chr1:152305610 [GRCh38]
Chr1:152278086 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7505A>C (p.Asp2502Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002826473] |
Chr1:152307381 [GRCh38]
Chr1:152279857 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10811A>G (p.Glu3604Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002763869] |
Chr1:152304075 [GRCh38]
Chr1:152276551 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8863A>G (p.Thr2955Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002956366] |
Chr1:152306023 [GRCh38]
Chr1:152278499 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9812C>A (p.Ser3271Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002981955] |
Chr1:152305074 [GRCh38]
Chr1:152277550 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1848C>G (p.Asn616Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002981885] |
Chr1:152313038 [GRCh38]
Chr1:152285514 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4996G>A (p.Ala1666Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002696620] |
Chr1:152309890 [GRCh38]
Chr1:152282366 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3043G>C (p.Gly1015Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002698831] |
Chr1:152311843 [GRCh38]
Chr1:152284319 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9717T>A (p.His3239Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002789241] |
Chr1:152305169 [GRCh38]
Chr1:152277645 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6304T>C (p.Ser2102Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002764422] |
Chr1:152308582 [GRCh38]
Chr1:152281058 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3862G>A (p.Gly1288Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002919288] |
Chr1:152311024 [GRCh38]
Chr1:152283500 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7604A>G (p.His2535Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002849902] |
Chr1:152307282 [GRCh38]
Chr1:152279758 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10907G>C (p.Ser3636Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002956281] |
Chr1:152303979 [GRCh38]
Chr1:152276455 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11024A>C (p.Asp3675Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002742158] |
Chr1:152303862 [GRCh38]
Chr1:152276338 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10361T>C (p.Val3454Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002641794] |
Chr1:152304525 [GRCh38]
Chr1:152277001 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6041C>T (p.Ala2014Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002712846] |
Chr1:152308845 [GRCh38]
Chr1:152281321 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7520A>G (p.His2507Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002712847] |
Chr1:152307366 [GRCh38]
Chr1:152279842 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7388A>G (p.His2463Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002763660] |
Chr1:152307498 [GRCh38]
Chr1:152279974 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.640G>A (p.Val214Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002827664] |
Chr1:152314246 [GRCh38]
Chr1:152286722 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11402A>C (p.His3801Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002955559] |
Chr1:152303484 [GRCh38]
Chr1:152275960 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11567G>A (p.Ser3856Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002983643] |
Chr1:152303319 [GRCh38]
Chr1:152275795 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2330A>G (p.Glu777Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002956003] |
Chr1:152312556 [GRCh38]
Chr1:152285032 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11636G>A (p.Arg3879Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002787396] |
Chr1:152303250 [GRCh38]
Chr1:152275726 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3435C>G (p.His1145Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002787398] |
Chr1:152311451 [GRCh38]
Chr1:152283927 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9271C>T (p.His3091Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002709749] |
Chr1:152305615 [GRCh38]
Chr1:152278091 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8017G>A (p.Gly2673Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002789551] |
Chr1:152306869 [GRCh38]
Chr1:152279345 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8835C>G (p.Asp2945Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002987044] |
Chr1:152306051 [GRCh38]
Chr1:152278527 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7704C>A (p.Ser2568Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003003816] |
Chr1:152307182 [GRCh38]
Chr1:152279658 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7427C>A (p.Ser2476Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002664998] |
Chr1:152307459 [GRCh38]
Chr1:152279935 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.395A>G (p.Asn132Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003003834] |
Chr1:152314491 [GRCh38]
Chr1:152286967 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5611G>A (p.Glu1871Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002787075] |
Chr1:152309275 [GRCh38]
Chr1:152281751 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11019C>G (p.Asp3673Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002699541] |
Chr1:152303867 [GRCh38]
Chr1:152276343 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11299G>A (p.Gly3767Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002699545] |
Chr1:152303587 [GRCh38]
Chr1:152276063 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6892A>G (p.Ser2298Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002644669] |
Chr1:152307994 [GRCh38]
Chr1:152280470 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5382C>A (p.His1794Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002767825] |
Chr1:152309504 [GRCh38]
Chr1:152281980 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1342C>A (p.Gln448Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002957142] |
Chr1:152313544 [GRCh38]
Chr1:152286020 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3785C>A (p.Thr1262Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002984903] |
Chr1:152311101 [GRCh38]
Chr1:152283577 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6529T>C (p.Ser2177Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002931314] |
Chr1:152308357 [GRCh38]
Chr1:152280833 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5806G>C (p.Gly1936Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002709000] |
Chr1:152309080 [GRCh38]
Chr1:152281556 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9284A>G (p.Gln3095Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002699547]|not provided [RCV003883944] |
Chr1:152305602 [GRCh38]
Chr1:152278078 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3419G>C (p.Arg1140Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002764375] |
Chr1:152311467 [GRCh38]
Chr1:152283943 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9635G>A (p.Gly3212Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002699765] |
Chr1:152305251 [GRCh38]
Chr1:152277727 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5086G>A (p.Gly1696Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002767238] |
Chr1:152309800 [GRCh38]
Chr1:152282276 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5626G>A (p.Asp1876Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002826261] |
Chr1:152309260 [GRCh38]
Chr1:152281736 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5698G>T (p.Val1900Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002709174] |
Chr1:152309188 [GRCh38]
Chr1:152281664 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5699T>C (p.Val1900Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002709175]|not provided [RCV003992737] |
Chr1:152309187 [GRCh38]
Chr1:152281663 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.4727T>A (p.Val1576Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002983644]|not provided [RCV003410218] |
Chr1:152310159 [GRCh38]
Chr1:152282635 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.2176G>C (p.Gly726Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002789236] |
Chr1:152312710 [GRCh38]
Chr1:152285186 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4761C>G (p.Ser1587Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002709497] |
Chr1:152310125 [GRCh38]
Chr1:152282601 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8836A>C (p.Ser2946Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002703474] |
Chr1:152306050 [GRCh38]
Chr1:152278526 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5872G>A (p.Gly1958Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002964453] |
Chr1:152309014 [GRCh38]
Chr1:152281490 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1339C>A (p.Gln447Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002831386] |
Chr1:152313547 [GRCh38]
Chr1:152286023 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10259A>G (p.Asp3420Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002675364] |
Chr1:152304627 [GRCh38]
Chr1:152277103 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3481G>A (p.Gly1161Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002808222] |
Chr1:152311405 [GRCh38]
Chr1:152283881 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9269G>A (p.Arg3090His) |
single nucleotide variant |
Inborn genetic diseases [RCV002965181] |
Chr1:152305617 [GRCh38]
Chr1:152278093 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8456C>A (p.Thr2819Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002855453] |
Chr1:152306430 [GRCh38]
Chr1:152278906 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3398G>A (p.Arg1133Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002813402] |
Chr1:152311488 [GRCh38]
Chr1:152283964 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6186G>C (p.Gln2062His) |
single nucleotide variant |
Inborn genetic diseases [RCV002965497] |
Chr1:152308700 [GRCh38]
Chr1:152281176 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7775A>G (p.His2592Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002812634] |
Chr1:152307111 [GRCh38]
Chr1:152279587 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4228G>A (p.Val1410Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002719381] |
Chr1:152310658 [GRCh38]
Chr1:152283134 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1226T>C (p.Val409Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002965649] |
Chr1:152313660 [GRCh38]
Chr1:152286136 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6249C>G (p.Ser2083Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002878247] |
Chr1:152308637 [GRCh38]
Chr1:152281113 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11317T>C (p.Tyr3773His) |
single nucleotide variant |
Inborn genetic diseases [RCV002719674]|not provided [RCV003883943] |
Chr1:152303569 [GRCh38]
Chr1:152276045 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5566C>T (p.Arg1856Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002965966] |
Chr1:152309320 [GRCh38]
Chr1:152281796 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2765T>G (p.Ile922Ser) |
single nucleotide variant |
FLG-related disorder [RCV003973743]|Inborn genetic diseases [RCV002961258] |
Chr1:152312121 [GRCh38]
Chr1:152284597 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.61A>G (p.Lys21Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002855773] |
Chr1:152315396 [GRCh38]
Chr1:152287872 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7088C>A (p.Ser2363Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002961466] |
Chr1:152307798 [GRCh38]
Chr1:152280274 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3688T>A (p.Ser1230Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002714172] |
Chr1:152311198 [GRCh38]
Chr1:152283674 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7025G>C (p.Arg2342Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002703563] |
Chr1:152307861 [GRCh38]
Chr1:152280337 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7817C>G (p.Pro2606Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002878165] |
Chr1:152307069 [GRCh38]
Chr1:152279545 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4214C>T (p.Ser1405Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002792267] |
Chr1:152310672 [GRCh38]
Chr1:152283148 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11101G>A (p.Ala3701Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002808846] |
Chr1:152303785 [GRCh38]
Chr1:152276261 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5212G>A (p.Gly1738Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002961073] |
Chr1:152309674 [GRCh38]
Chr1:152282150 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4535C>G (p.Ser1512Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002936683] |
Chr1:152310351 [GRCh38]
Chr1:152282827 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3694C>A (p.His1232Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002702600] |
Chr1:152311192 [GRCh38]
Chr1:152283668 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8275A>C (p.Thr2759Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002807627] |
Chr1:152306611 [GRCh38]
Chr1:152279087 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1943C>G (p.Ser648Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002648560] |
Chr1:152312943 [GRCh38]
Chr1:152285419 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11440C>T (p.Arg3814Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002961195]|not provided [RCV003410197] |
Chr1:152303446 [GRCh38]
Chr1:152275922 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.6763G>T (p.Asp2255Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002792438] |
Chr1:152308123 [GRCh38]
Chr1:152280599 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8531A>C (p.Glu2844Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002746916] |
Chr1:152306355 [GRCh38]
Chr1:152278831 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5255G>A (p.Arg1752His) |
single nucleotide variant |
Inborn genetic diseases [RCV002936005] |
Chr1:152309631 [GRCh38]
Chr1:152282107 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6674T>G (p.Val2225Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002855597] |
Chr1:152308212 [GRCh38]
Chr1:152280688 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8610C>G (p.His2870Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002897268] |
Chr1:152306276 [GRCh38]
Chr1:152278752 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3095G>C (p.Arg1032Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002747512]|not provided [RCV003410168] |
Chr1:152311791 [GRCh38]
Chr1:152284267 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5732G>A (p.Ser1911Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002670603] |
Chr1:152309154 [GRCh38]
Chr1:152281630 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9694T>C (p.Ser3232Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002960010] |
Chr1:152305192 [GRCh38]
Chr1:152277668 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10047G>C (p.Glu3349Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002670180] |
Chr1:152304839 [GRCh38]
Chr1:152277315 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6067G>T (p.Gly2023Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002832497] |
Chr1:152308819 [GRCh38]
Chr1:152281295 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8335T>C (p.Ser2779Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002877789] |
Chr1:152306551 [GRCh38]
Chr1:152279027 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3136C>G (p.His1046Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002878340] |
Chr1:152311750 [GRCh38]
Chr1:152284226 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5263T>G (p.Ser1755Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002808438] |
Chr1:152309623 [GRCh38]
Chr1:152282099 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10469G>C (p.Arg3490Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002719390] |
Chr1:152304417 [GRCh38]
Chr1:152276893 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3073G>A (p.Ala1025Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002961628]|not provided [RCV003410207] |
Chr1:152311813 [GRCh38]
Chr1:152284289 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.2332T>C (p.Ser778Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002809229] |
Chr1:152312554 [GRCh38]
Chr1:152285030 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1207G>T (p.Gly403Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002940083] |
Chr1:152313679 [GRCh38]
Chr1:152286155 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3377A>C (p.Gln1126Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002855898] |
Chr1:152311509 [GRCh38]
Chr1:152283985 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2008C>T (p.His670Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002718320] |
Chr1:152312878 [GRCh38]
Chr1:152285354 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8816G>C (p.Gly2939Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002900690] |
Chr1:152306070 [GRCh38]
Chr1:152278546 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1046C>A (p.Ser349Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002989313] |
Chr1:152313840 [GRCh38]
Chr1:152286316 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6976G>C (p.Ala2326Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002674418] |
Chr1:152307910 [GRCh38]
Chr1:152280386 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3972C>A (p.Asp1324Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002717419] |
Chr1:152310914 [GRCh38]
Chr1:152283390 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6859G>A (p.Glu2287Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002809013] |
Chr1:152308027 [GRCh38]
Chr1:152280503 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5744G>A (p.Gly1915Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002835487] |
Chr1:152309142 [GRCh38]
Chr1:152281618 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1663T>C (p.Ser555Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002960306] |
Chr1:152313223 [GRCh38]
Chr1:152285699 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7919C>G (p.Ala2640Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002793076] |
Chr1:152306967 [GRCh38]
Chr1:152279443 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4573C>G (p.Gln1525Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002809869]|not provided [RCV004691518] |
Chr1:152310313 [GRCh38]
Chr1:152282789 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3776G>T (p.Gly1259Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002989399] |
Chr1:152311110 [GRCh38]
Chr1:152283586 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4249G>A (p.Gly1417Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002941602] |
Chr1:152310637 [GRCh38]
Chr1:152283113 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9784G>C (p.Ala3262Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002669569] |
Chr1:152305102 [GRCh38]
Chr1:152277578 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8563G>A (p.Gly2855Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002965589] |
Chr1:152306323 [GRCh38]
Chr1:152278799 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5662G>C (p.Ala1888Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002717769] |
Chr1:152309224 [GRCh38]
Chr1:152281700 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9149G>A (p.Gly3050Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002719675] |
Chr1:152305737 [GRCh38]
Chr1:152278213 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7000C>T (p.His2334Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002940221] |
Chr1:152307886 [GRCh38]
Chr1:152280362 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4772G>A (p.Gly1591Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003010854] |
Chr1:152310114 [GRCh38]
Chr1:152282590 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3001A>C (p.Ser1001Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002936949] |
Chr1:152311885 [GRCh38]
Chr1:152284361 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.278A>T (p.Asn93Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002703261] |
Chr1:152314608 [GRCh38]
Chr1:152287084 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11162A>G (p.Glu3721Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002807608] |
Chr1:152303724 [GRCh38]
Chr1:152276200 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6482C>T (p.Ser2161Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002723538] |
Chr1:152308404 [GRCh38]
Chr1:152280880 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6007G>C (p.Glu2003Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002723839] |
Chr1:152308879 [GRCh38]
Chr1:152281355 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9052G>A (p.Asp3018Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002657190] |
Chr1:152305834 [GRCh38]
Chr1:152278310 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9044A>G (p.Gln3015Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002724179] |
Chr1:152305842 [GRCh38]
Chr1:152278318 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11723A>G (p.Asp3908Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002678351] |
Chr1:152303163 [GRCh38]
Chr1:152275639 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7981T>A (p.Ser2661Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002679067] |
Chr1:152306905 [GRCh38]
Chr1:152279381 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1973G>C (p.Arg658Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002679049] |
Chr1:152312913 [GRCh38]
Chr1:152285389 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3297C>A (p.His1099Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002944832] |
Chr1:152311589 [GRCh38]
Chr1:152284065 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3516G>C (p.Arg1172Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002813966] |
Chr1:152311370 [GRCh38]
Chr1:152283846 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10082C>A (p.Ala3361Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002725119] |
Chr1:152304804 [GRCh38]
Chr1:152277280 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11047G>A (p.Gly3683Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002679858] |
Chr1:152303839 [GRCh38]
Chr1:152276315 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5167G>A (p.Glu1723Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002679429] |
Chr1:152309719 [GRCh38]
Chr1:152282195 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7796T>C (p.Leu2599Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002652850] |
Chr1:152307090 [GRCh38]
Chr1:152279566 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8870C>A (p.Thr2957Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002679738]|not provided [RCV003410235] |
Chr1:152306016 [GRCh38]
Chr1:152278492 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7854C>A (p.His2618Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002677870] |
Chr1:152307032 [GRCh38]
Chr1:152279508 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10130G>C (p.Gly3377Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002724987] |
Chr1:152304756 [GRCh38]
Chr1:152277232 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1907G>A (p.Arg636Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002679619] |
Chr1:152312979 [GRCh38]
Chr1:152285455 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10237T>C (p.Ser3413Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002657268] |
Chr1:152304649 [GRCh38]
Chr1:152277125 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2630A>G (p.Gln877Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002944977] |
Chr1:152312256 [GRCh38]
Chr1:152284732 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8117_8120del (p.Ser2706fs) |
microsatellite |
not provided [RCV003149495] |
Chr1:152306766..152306769 [GRCh38]
Chr1:152279242..152279245 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.7871_7874del (p.Arg2624fs) |
deletion |
not provided [RCV004795149] |
Chr1:152307012..152307015 [GRCh38]
Chr1:152279488..152279491 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.1217C>G (p.Ser406Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004796889]|Ichthyosis vulgaris [RCV004788290] |
Chr1:152313669 [GRCh38]
Chr1:152286145 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.4766G>A (p.Arg1589His) |
single nucleotide variant |
Inborn genetic diseases [RCV003296432] |
Chr1:152310120 [GRCh38]
Chr1:152282596 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4286G>A (p.Gly1429Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003279219] |
Chr1:152310600 [GRCh38]
Chr1:152283076 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1614G>T (p.Arg538Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003257763] |
Chr1:152313272 [GRCh38]
Chr1:152285748 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5198_5201del (p.Ser1733fs) |
microsatellite |
Dermatitis, atopic, 2 [RCV004795526] |
Chr1:152309685..152309688 [GRCh38]
Chr1:152282161..152282164 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.11464G>A (p.Gly3822Ser) |
single nucleotide variant |
not provided [RCV003222623] |
Chr1:152303422 [GRCh38]
Chr1:152275898 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2733A>G (p.Ser911=) |
single nucleotide variant |
not provided [RCV003222627] |
Chr1:152312153 [GRCh38]
Chr1:152284629 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2179C>A (p.His727Asn) |
single nucleotide variant |
not provided [RCV003222629] |
Chr1:152312707 [GRCh38]
Chr1:152285183 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6931T>G (p.Ser2311Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003195573] |
Chr1:152307955 [GRCh38]
Chr1:152280431 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8827T>C (p.Ser2943Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003195654] |
Chr1:152306059 [GRCh38]
Chr1:152278535 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2462A>G (p.His821Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003220412] |
Chr1:152312424 [GRCh38]
Chr1:152284900 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10890C>G (p.His3630Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003201041] |
Chr1:152303996 [GRCh38]
Chr1:152276472 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1918T>A (p.Ser640Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003209966] |
Chr1:152312968 [GRCh38]
Chr1:152285444 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8131G>A (p.Gly2711Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003196310] |
Chr1:152306755 [GRCh38]
Chr1:152279231 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6785C>T (p.Ser2262Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003210205] |
Chr1:152308101 [GRCh38]
Chr1:152280577 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4801G>C (p.Glu1601Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003196533] |
Chr1:152310085 [GRCh38]
Chr1:152282561 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.742G>C (p.Asp248His) |
single nucleotide variant |
Inborn genetic diseases [RCV003217106] |
Chr1:152314144 [GRCh38]
Chr1:152286620 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6034C>T (p.Gln2012Ter) |
single nucleotide variant |
not provided [RCV003221694] |
Chr1:152308852 [GRCh38]
Chr1:152281328 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.9773A>T (p.His3258Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003211567] |
Chr1:152305113 [GRCh38]
Chr1:152277589 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3191G>C (p.Trp1064Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003209263] |
Chr1:152311695 [GRCh38]
Chr1:152284171 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2891G>C (p.Gly964Ala) |
single nucleotide variant |
not provided [RCV003222626] |
Chr1:152311995 [GRCh38]
Chr1:152284471 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9428C>T (p.Thr3143Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003179891] |
Chr1:152305458 [GRCh38]
Chr1:152277934 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6765T>G (p.Asp2255Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003211700] |
Chr1:152308121 [GRCh38]
Chr1:152280597 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5150G>A (p.Ser1717Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003220169] |
Chr1:152309736 [GRCh38]
Chr1:152282212 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5497G>A (p.Val1833Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003190140]|not provided [RCV003410299] |
Chr1:152309389 [GRCh38]
Chr1:152281865 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.608G>A (p.Arg203Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003194556] |
Chr1:152314278 [GRCh38]
Chr1:152286754 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8318G>A (p.Ser2773Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003192608] |
Chr1:152306568 [GRCh38]
Chr1:152279044 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6331A>G (p.Thr2111Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003220925] |
Chr1:152308555 [GRCh38]
Chr1:152281031 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5114T>C (p.Val1705Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003219735] |
Chr1:152309772 [GRCh38]
Chr1:152282248 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9827C>T (p.Thr3276Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003193268] |
Chr1:152305059 [GRCh38]
Chr1:152277535 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6782G>C (p.Gly2261Ala) |
single nucleotide variant |
not provided [RCV003222624] |
Chr1:152308104 [GRCh38]
Chr1:152280580 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5665T>A (p.Ser1889Thr) |
single nucleotide variant |
not provided [RCV003222625] |
Chr1:152309221 [GRCh38]
Chr1:152281697 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1117del (p.His373fs) |
deletion |
not provided [RCV003222630] |
Chr1:152313769 [GRCh38]
Chr1:152286245 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1806G>T (p.Gln602His) |
single nucleotide variant |
Inborn genetic diseases [RCV003203689] |
Chr1:152313080 [GRCh38]
Chr1:152285556 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3372T>A (p.His1124Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003189030] |
Chr1:152311514 [GRCh38]
Chr1:152283990 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8236G>A (p.Glu2746Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003207474] |
Chr1:152306650 [GRCh38]
Chr1:152279126 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10469G>A (p.Arg3490His) |
single nucleotide variant |
Inborn genetic diseases [RCV003184635] |
Chr1:152304417 [GRCh38]
Chr1:152276893 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10769A>T (p.His3590Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003175120] |
Chr1:152304117 [GRCh38]
Chr1:152276593 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8564G>T (p.Gly2855Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003281575] |
Chr1:152306322 [GRCh38]
Chr1:152278798 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6395A>G (p.Gln2132Arg) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV003142514] |
Chr1:152308491 [GRCh38]
Chr1:152280967 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7618C>G (p.Arg2540Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003197445] |
Chr1:152307268 [GRCh38]
Chr1:152279744 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6182C>T (p.Ala2061Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003261258] |
Chr1:152308704 [GRCh38]
Chr1:152281180 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.902G>C (p.Arg301Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003185723] |
Chr1:152313984 [GRCh38]
Chr1:152286460 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5822A>G (p.Asn1941Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003198464] |
Chr1:152309064 [GRCh38]
Chr1:152281540 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7777G>T (p.Gly2593Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV003140537] |
Chr1:152307109 [GRCh38]
Chr1:152279585 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.2747C>G (p.Ala916Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003192419] |
Chr1:152312139 [GRCh38]
Chr1:152284615 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10583G>C (p.Gly3528Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003203325] |
Chr1:152304303 [GRCh38]
Chr1:152276779 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8971C>A (p.His2991Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003192835] |
Chr1:152305915 [GRCh38]
Chr1:152278391 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.557_560del (p.Asn186fs) |
deletion |
not provided [RCV003222631] |
Chr1:152314326..152314329 [GRCh38]
Chr1:152286802..152286805 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.527dup (p.Asn176fs) |
duplication |
not provided [RCV003221617] |
Chr1:152314358..152314359 [GRCh38]
Chr1:152286834..152286835 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.2707A>G (p.Arg903Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004285581]|not provided [RCV003222628] |
Chr1:152312179 [GRCh38]
Chr1:152284655 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3152G>A (p.Arg1051His) |
single nucleotide variant |
Inborn genetic diseases [RCV003183996] |
Chr1:152311734 [GRCh38]
Chr1:152284210 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11249C>T (p.Ala3750Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003202823] |
Chr1:152303637 [GRCh38]
Chr1:152276113 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11952T>A (p.Tyr3984Ter) |
single nucleotide variant |
not provided [RCV003225584] |
Chr1:152302934 [GRCh38]
Chr1:152275410 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.8170G>A (p.Ala2724Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003189538] |
Chr1:152306716 [GRCh38]
Chr1:152279192 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3630G>C (p.Gln1210His) |
single nucleotide variant |
Inborn genetic diseases [RCV003192134] |
Chr1:152311256 [GRCh38]
Chr1:152283732 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8858G>A (p.Arg2953His) |
single nucleotide variant |
not provided [RCV004597671] |
Chr1:152306028 [GRCh38]
Chr1:152278504 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10028G>A (p.Ser3343Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003265157] |
Chr1:152304858 [GRCh38]
Chr1:152277334 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11720G>A (p.Arg3907His) |
single nucleotide variant |
Inborn genetic diseases [RCV003307310] |
Chr1:152303166 [GRCh38]
Chr1:152275642 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11554G>A (p.Gly3852Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003307313] |
Chr1:152303332 [GRCh38]
Chr1:152275808 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4388G>A (p.Gly1463Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003286377] |
Chr1:152310498 [GRCh38]
Chr1:152282974 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3302A>T (p.Glu1101Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003263528] |
Chr1:152311584 [GRCh38]
Chr1:152284060 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7467del (p.Ser2490fs) |
deletion |
not provided [RCV003319666] |
Chr1:152307419 [GRCh38]
Chr1:152279895 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10287G>T (p.Glu3429Asp) |
single nucleotide variant |
not provided [RCV003319650] |
Chr1:152304599 [GRCh38]
Chr1:152277075 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5014C>T (p.Gln1672Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003330304] |
Chr1:152309872 [GRCh38]
Chr1:152282348 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.10017G>A (p.Gln3339=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338929] |
Chr1:152304869 [GRCh38]
Chr1:152277345 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.11213G>A (p.Arg3738His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338926] |
Chr1:152303673 [GRCh38]
Chr1:152276149 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10307G>C (p.Gly3436Ala) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338927] |
Chr1:152304579 [GRCh38]
Chr1:152277055 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10194T>C (p.Ser3398=) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338928] |
Chr1:152304692 [GRCh38]
Chr1:152277168 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7015G>A (p.Asp2339Asn) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338930] |
Chr1:152307871 [GRCh38]
Chr1:152280347 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5095C>T (p.Arg1699Cys) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338931] |
Chr1:152309791 [GRCh38]
Chr1:152282267 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.5051G>A (p.Arg1684His) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338932] |
Chr1:152309835 [GRCh38]
Chr1:152282311 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.3424del (p.Gln1142fs) |
deletion |
Ichthyosis vulgaris [RCV003330305] |
Chr1:152311462 [GRCh38]
Chr1:152283938 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3 |
copy number gain |
Chromosome 1q21.1 duplication syndrome [RCV003329522] |
Chr1:142535935..157648813 [GRCh37]
Chr1:1q12-23.1 |
pathogenic |
| NM_002016.2(FLG):c.9253G>T (p.Gly3085Ter) |
single nucleotide variant |
not provided [RCV003329954] |
Chr1:152305633 [GRCh38]
Chr1:152278109 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.995G>T (p.Gly332Val) |
single nucleotide variant |
Ichthyosis vulgaris [RCV003338933] |
Chr1:152313891 [GRCh38]
Chr1:152286367 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.7564C>T (p.Gln2522Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV004763652]|not provided [RCV003330016] |
Chr1:152307322 [GRCh38]
Chr1:152279798 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.11552C>T (p.Ala3851Val) |
single nucleotide variant |
not provided [RCV003334103] |
Chr1:152303334 [GRCh38]
Chr1:152275810 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4950C>T (p.Ser1650=) |
single nucleotide variant |
not provided [RCV003334104] |
Chr1:152309936 [GRCh38]
Chr1:152282412 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3785C>G (p.Thr1262Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003358565] |
Chr1:152311101 [GRCh38]
Chr1:152283577 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2936G>C (p.Arg979Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003344567] |
Chr1:152311950 [GRCh38]
Chr1:152284426 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4203T>A (p.His1401Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003379269] |
Chr1:152310683 [GRCh38]
Chr1:152283159 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7435G>A (p.Glu2479Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003349323] |
Chr1:152307451 [GRCh38]
Chr1:152279927 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3438C>A (p.His1146Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003363360] |
Chr1:152311448 [GRCh38]
Chr1:152283924 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2800G>A (p.Glu934Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003386392] |
Chr1:152312086 [GRCh38]
Chr1:152284562 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.938A>G (p.His313Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003386398] |
Chr1:152313948 [GRCh38]
Chr1:152286424 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.939C>G (p.His313Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003386399] |
Chr1:152313947 [GRCh38]
Chr1:152286423 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1154G>T (p.Gly385Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003351243] |
Chr1:152313732 [GRCh38]
Chr1:152286208 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5342G>A (p.Arg1781His) |
single nucleotide variant |
Inborn genetic diseases [RCV003378013] |
Chr1:152309544 [GRCh38]
Chr1:152282020 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.12128G>A (p.Ser4043Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003366422] |
Chr1:152302758 [GRCh38]
Chr1:152275234 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1922C>A (p.Ala641Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003366449] |
Chr1:152312964 [GRCh38]
Chr1:152285440 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10185G>T (p.Gln3395His) |
single nucleotide variant |
Inborn genetic diseases [RCV003374679] |
Chr1:152304701 [GRCh38]
Chr1:152277177 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7655G>C (p.Gly2552Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003346832] |
Chr1:152307231 [GRCh38]
Chr1:152279707 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8914T>A (p.Ser2972Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003373256] |
Chr1:152305972 [GRCh38]
Chr1:152278448 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8657G>A (p.Arg2886His) |
single nucleotide variant |
not provided [RCV003456659] |
Chr1:152306229 [GRCh38]
Chr1:152278705 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3251A>G (p.Gln1084Arg) |
single nucleotide variant |
not provided [RCV003456661] |
Chr1:152311635 [GRCh38]
Chr1:152284111 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3917C>G (p.Ser1306Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003374087] |
Chr1:152310969 [GRCh38]
Chr1:152283445 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7727A>G (p.His2576Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003374088] |
Chr1:152307159 [GRCh38]
Chr1:152279635 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5251A>G (p.Thr1751Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003355993] |
Chr1:152309635 [GRCh38]
Chr1:152282111 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6484G>A (p.Gly2162Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003348221] |
Chr1:152308402 [GRCh38]
Chr1:152280878 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6065T>C (p.Ile2022Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003368829] |
Chr1:152308821 [GRCh38]
Chr1:152281297 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4184T>C (p.Val1395Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003365825] |
Chr1:152310702 [GRCh38]
Chr1:152283178 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4187C>G (p.Thr1396Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003365826] |
Chr1:152310699 [GRCh38]
Chr1:152283175 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5599C>A (p.Gln1867Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003354292] |
Chr1:152309287 [GRCh38]
Chr1:152281763 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10246G>A (p.Glu3416Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003351476] |
Chr1:152304640 [GRCh38]
Chr1:152277116 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1759C>T (p.Arg587Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003363692] |
Chr1:152313127 [GRCh38]
Chr1:152285603 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.937C>T (p.His313Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003351614] |
Chr1:152313949 [GRCh38]
Chr1:152286425 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5184G>C (p.Glu1728Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003349397] |
Chr1:152309702 [GRCh38]
Chr1:152282178 [GRCh37]
Chr1:1q21.3 |
likely benign |
| GRCh37/hg19 1q21.3(chr1:152203257-152318885)x1 |
copy number loss |
not provided [RCV003483383] |
Chr1:152203257..152318885 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11190T>C (p.Ser3730=) |
single nucleotide variant |
not provided [RCV003408920] |
Chr1:152303696 [GRCh38]
Chr1:152276172 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11073C>T (p.Ser3691=) |
single nucleotide variant |
not provided [RCV003408921] |
Chr1:152303813 [GRCh38]
Chr1:152276289 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11064T>C (p.His3688=) |
single nucleotide variant |
not provided [RCV003408922] |
Chr1:152303822 [GRCh38]
Chr1:152276298 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11046C>T (p.His3682=) |
single nucleotide variant |
not provided [RCV003408923] |
Chr1:152303840 [GRCh38]
Chr1:152276316 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8656C>T (p.Arg2886Cys) |
single nucleotide variant |
not provided [RCV003408950] |
Chr1:152306230 [GRCh38]
Chr1:152278706 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7371G>A (p.Glu2457=) |
single nucleotide variant |
not provided [RCV003408963] |
Chr1:152307515 [GRCh38]
Chr1:152279991 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7274A>C (p.Glu2425Ala) |
single nucleotide variant |
not provided [RCV003408964] |
Chr1:152307612 [GRCh38]
Chr1:152280088 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2784A>G (p.Ala928=) |
single nucleotide variant |
not provided [RCV003408999] |
Chr1:152312102 [GRCh38]
Chr1:152284578 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5799del (p.Arg1933fs) |
deletion |
Ichthyosis vulgaris [RCV004784156]|not provided [RCV003441669] |
Chr1:152309087 [GRCh38]
Chr1:152281563 [GRCh37]
Chr1:1q21.3 |
pathogenic|likely pathogenic |
| NM_002016.2(FLG):c.10919_10926del (p.Ser3640fs) |
deletion |
not provided [RCV003441618] |
Chr1:152303960..152303967 [GRCh38]
Chr1:152276436..152276443 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.10737G>A (p.Thr3579=) |
single nucleotide variant |
not provided [RCV003408925] |
Chr1:152304149 [GRCh38]
Chr1:152276625 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10455C>A (p.Ala3485=) |
single nucleotide variant |
not provided [RCV003408926] |
Chr1:152304431 [GRCh38]
Chr1:152276907 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10386C>T (p.Ser3462=) |
single nucleotide variant |
not provided [RCV003408927] |
Chr1:152304500 [GRCh38]
Chr1:152276976 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10350C>T (p.Tyr3450=) |
single nucleotide variant |
not provided [RCV003408928] |
Chr1:152304536 [GRCh38]
Chr1:152277012 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9834C>T (p.His3278=) |
single nucleotide variant |
not provided [RCV003408938] |
Chr1:152305052 [GRCh38]
Chr1:152277528 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9809G>A (p.Arg3270His) |
single nucleotide variant |
not provided [RCV003408939] |
Chr1:152305077 [GRCh38]
Chr1:152277553 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9774C>T (p.His3258=) |
single nucleotide variant |
not provided [RCV003408940] |
Chr1:152305112 [GRCh38]
Chr1:152277588 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9747C>T (p.His3249=) |
single nucleotide variant |
not provided [RCV003408941] |
Chr1:152305139 [GRCh38]
Chr1:152277615 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9699G>A (p.Gly3233=) |
single nucleotide variant |
not provided [RCV003408942] |
Chr1:152305187 [GRCh38]
Chr1:152277663 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9672T>C (p.His3224=) |
single nucleotide variant |
not provided [RCV003408943] |
Chr1:152305214 [GRCh38]
Chr1:152277690 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9629G>A (p.Arg3210His) |
single nucleotide variant |
not provided [RCV003408944] |
Chr1:152305257 [GRCh38]
Chr1:152277733 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7615T>A (p.Ser2539Thr) |
single nucleotide variant |
not provided [RCV003408959] |
Chr1:152307271 [GRCh38]
Chr1:152279747 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5383G>A (p.Glu1795Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004364479]|not provided [RCV003408978] |
Chr1:152309503 [GRCh38]
Chr1:152281979 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.5058G>A (p.Gln1686=) |
single nucleotide variant |
not provided [RCV003408979] |
Chr1:152309828 [GRCh38]
Chr1:152282304 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4705G>A (p.Gly1569Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004364480]|not provided [RCV003408980] |
Chr1:152310181 [GRCh38]
Chr1:152282657 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.2778A>G (p.Ser926=) |
single nucleotide variant |
not provided [RCV003409000] |
Chr1:152312108 [GRCh38]
Chr1:152284584 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2734C>T (p.Arg912Cys) |
single nucleotide variant |
not provided [RCV003409001] |
Chr1:152312152 [GRCh38]
Chr1:152284628 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2436C>A (p.Pro812=) |
single nucleotide variant |
not provided [RCV003409006] |
Chr1:152312450 [GRCh38]
Chr1:152284926 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1992C>T (p.His664=) |
single nucleotide variant |
not provided [RCV003409007] |
Chr1:152312894 [GRCh38]
Chr1:152285370 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1596C>T (p.His532=) |
single nucleotide variant |
not provided [RCV003409012] |
Chr1:152313290 [GRCh38]
Chr1:152285766 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.411T>A (p.Asn137Lys) |
single nucleotide variant |
not provided [RCV003409020] |
Chr1:152314475 [GRCh38]
Chr1:152286951 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.24C>T (p.Ile8=) |
single nucleotide variant |
not provided [RCV003409022] |
Chr1:152315433 [GRCh38]
Chr1:152287909 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5695C>A (p.Gln1899Lys) |
single nucleotide variant |
not provided [RCV003456660] |
Chr1:152309191 [GRCh38]
Chr1:152281667 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11494G>A (p.Glu3832Lys) |
single nucleotide variant |
not provided [RCV003408916] |
Chr1:152303392 [GRCh38]
Chr1:152275868 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11439A>C (p.Thr3813=) |
single nucleotide variant |
not provided [RCV003408917] |
Chr1:152303447 [GRCh38]
Chr1:152275923 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11340G>A (p.Arg3780=) |
single nucleotide variant |
not provided [RCV003408918] |
Chr1:152303546 [GRCh38]
Chr1:152276022 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11289G>A (p.Gly3763=) |
single nucleotide variant |
not provided [RCV003408919] |
Chr1:152303597 [GRCh38]
Chr1:152276073 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7975CAG[1] (p.Gln2660del) |
microsatellite |
not provided [RCV003408955] |
Chr1:152306906..152306908 [GRCh38]
Chr1:152279382..152279384 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7647G>A (p.Val2549=) |
single nucleotide variant |
not provided [RCV003408956] |
Chr1:152307239 [GRCh38]
Chr1:152279715 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7641G>A (p.Ser2547=) |
single nucleotide variant |
not provided [RCV003408957] |
Chr1:152307245 [GRCh38]
Chr1:152279721 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7620G>T (p.Arg2540=) |
single nucleotide variant |
not provided [RCV003408958] |
Chr1:152307266 [GRCh38]
Chr1:152279742 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7596G>A (p.Ser2532=) |
single nucleotide variant |
not provided [RCV003408960] |
Chr1:152307290 [GRCh38]
Chr1:152279766 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7557C>T (p.Asn2519=) |
single nucleotide variant |
not provided [RCV003408961] |
Chr1:152307329 [GRCh38]
Chr1:152279805 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7452A>G (p.Arg2484=) |
single nucleotide variant |
not provided [RCV003408962] |
Chr1:152307434 [GRCh38]
Chr1:152279910 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9395G>C (p.Ser3132Thr) |
single nucleotide variant |
not provided [RCV003443488] |
Chr1:152305491 [GRCh38]
Chr1:152277967 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7164G>A (p.Gln2388=) |
single nucleotide variant |
not provided [RCV003408965] |
Chr1:152307722 [GRCh38]
Chr1:152280198 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7110C>T (p.Asp2370=) |
single nucleotide variant |
not provided [RCV003408966] |
Chr1:152307776 [GRCh38]
Chr1:152280252 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7044C>T (p.His2348=) |
single nucleotide variant |
not provided [RCV003408967] |
Chr1:152307842 [GRCh38]
Chr1:152280318 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6848G>C (p.Arg2283Thr) |
single nucleotide variant |
not provided [RCV003408969] |
Chr1:152308038 [GRCh38]
Chr1:152280514 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6651C>T (p.Ala2217=) |
single nucleotide variant |
not provided [RCV003408970] |
Chr1:152308235 [GRCh38]
Chr1:152280711 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6408C>T (p.Asp2136=) |
single nucleotide variant |
not provided [RCV003408971] |
Chr1:152308478 [GRCh38]
Chr1:152280954 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6390A>G (p.Ala2130=) |
single nucleotide variant |
not provided [RCV003408972] |
Chr1:152308496 [GRCh38]
Chr1:152280972 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6343C>A (p.Gln2115Lys) |
single nucleotide variant |
not provided [RCV003408973] |
Chr1:152308543 [GRCh38]
Chr1:152281019 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6104G>T (p.Gly2035Val) |
single nucleotide variant |
not provided [RCV003408974] |
Chr1:152308782 [GRCh38]
Chr1:152281258 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5671C>A (p.Arg1891=) |
single nucleotide variant |
not provided [RCV003408975] |
Chr1:152309215 [GRCh38]
Chr1:152281691 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5649G>A (p.Ser1883=) |
single nucleotide variant |
not provided [RCV003408976] |
Chr1:152309237 [GRCh38]
Chr1:152281713 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5472G>A (p.Arg1824=) |
single nucleotide variant |
not provided [RCV003408977] |
Chr1:152309414 [GRCh38]
Chr1:152281890 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4704C>T (p.Ala1568=) |
single nucleotide variant |
not provided [RCV003408981] |
Chr1:152310182 [GRCh38]
Chr1:152282658 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3829G>C (p.Glu1277Gln) |
single nucleotide variant |
not provided [RCV003408987] |
Chr1:152311057 [GRCh38]
Chr1:152283533 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3693G>A (p.Arg1231=) |
single nucleotide variant |
not provided [RCV003408988] |
Chr1:152311193 [GRCh38]
Chr1:152283669 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3645T>C (p.Ser1215=) |
single nucleotide variant |
not provided [RCV003408989] |
Chr1:152311241 [GRCh38]
Chr1:152283717 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3543T>C (p.His1181=) |
single nucleotide variant |
not provided [RCV003408990] |
Chr1:152311343 [GRCh38]
Chr1:152283819 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3436C>A (p.His1146Asn) |
single nucleotide variant |
not provided [RCV003408991] |
Chr1:152311450 [GRCh38]
Chr1:152283926 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3153C>T (p.Arg1051=) |
single nucleotide variant |
not provided [RCV003408992] |
Chr1:152311733 [GRCh38]
Chr1:152284209 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3099C>T (p.His1033=) |
single nucleotide variant |
not provided [RCV003408993] |
Chr1:152311787 [GRCh38]
Chr1:152284263 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2712C>T (p.Asp904=) |
single nucleotide variant |
not provided [RCV003409002] |
Chr1:152312174 [GRCh38]
Chr1:152284650 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2688A>C (p.Thr896=) |
single nucleotide variant |
not provided [RCV003409003] |
Chr1:152312198 [GRCh38]
Chr1:152284674 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2652T>A (p.Arg884=) |
single nucleotide variant |
not provided [RCV003409004] |
Chr1:152312234 [GRCh38]
Chr1:152284710 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2643T>C (p.Asp881=) |
single nucleotide variant |
not provided [RCV003409005] |
Chr1:152312243 [GRCh38]
Chr1:152284719 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1816G>A (p.Gly606Arg) |
single nucleotide variant |
not provided [RCV003409008] |
Chr1:152313070 [GRCh38]
Chr1:152285546 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1737C>T (p.Asp579=) |
single nucleotide variant |
not provided [RCV003409009] |
Chr1:152313149 [GRCh38]
Chr1:152285625 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1701A>C (p.Ala567=) |
single nucleotide variant |
not provided [RCV003409010] |
Chr1:152313185 [GRCh38]
Chr1:152285661 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1524G>A (p.Ala508=) |
single nucleotide variant |
not provided [RCV003409013] |
Chr1:152313362 [GRCh38]
Chr1:152285838 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1518T>C (p.His506=) |
single nucleotide variant |
not provided [RCV003409014] |
Chr1:152313368 [GRCh38]
Chr1:152285844 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1333C>T (p.Leu445=) |
single nucleotide variant |
not provided [RCV003409015] |
Chr1:152313553 [GRCh38]
Chr1:152286029 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1158C>A (p.Ser386=) |
single nucleotide variant |
not provided [RCV003409016] |
Chr1:152313728 [GRCh38]
Chr1:152286204 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.918C>T (p.His306=) |
single nucleotide variant |
not provided [RCV003409017] |
Chr1:152313968 [GRCh38]
Chr1:152286444 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.789T>G (p.Ser263=) |
single nucleotide variant |
not provided [RCV003409018] |
Chr1:152314097 [GRCh38]
Chr1:152286573 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.427A>C (p.Ser143Arg) |
single nucleotide variant |
not provided [RCV003409019] |
Chr1:152314459 [GRCh38]
Chr1:152286935 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.364A>C (p.Arg122=) |
single nucleotide variant |
not provided [RCV003409021] |
Chr1:152314522 [GRCh38]
Chr1:152286998 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.12145C>T (p.Leu4049=) |
single nucleotide variant |
not provided [RCV003408913] |
Chr1:152302741 [GRCh38]
Chr1:152275217 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.12057G>A (p.Ala4019=) |
single nucleotide variant |
FLG-related disorder [RCV003946506]|not provided [RCV003408914] |
Chr1:152302829 [GRCh38]
Chr1:152275305 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11880T>C (p.Ser3960=) |
single nucleotide variant |
not provided [RCV003408915] |
Chr1:152303006 [GRCh38]
Chr1:152275482 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10758C>T (p.Ala3586=) |
single nucleotide variant |
not provided [RCV003408924] |
Chr1:152304128 [GRCh38]
Chr1:152276604 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10215C>G (p.Thr3405=) |
single nucleotide variant |
not provided [RCV003408929] |
Chr1:152304671 [GRCh38]
Chr1:152277147 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10206G>C (p.Arg3402=) |
single nucleotide variant |
not provided [RCV003408930] |
Chr1:152304680 [GRCh38]
Chr1:152277156 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10205G>A (p.Arg3402Gln) |
single nucleotide variant |
not provided [RCV003408931] |
Chr1:152304681 [GRCh38]
Chr1:152277157 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10204C>T (p.Arg3402Trp) |
single nucleotide variant |
not provided [RCV003408932] |
Chr1:152304682 [GRCh38]
Chr1:152277158 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10203G>A (p.Gly3401=) |
single nucleotide variant |
not provided [RCV003408933] |
Chr1:152304683 [GRCh38]
Chr1:152277159 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10152G>A (p.Gly3384=) |
single nucleotide variant |
not provided [RCV003408934] |
Chr1:152304734 [GRCh38]
Chr1:152277210 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10053C>T (p.Asp3351=) |
single nucleotide variant |
not provided [RCV003408935] |
Chr1:152304833 [GRCh38]
Chr1:152277309 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9883A>C (p.Arg3295=) |
single nucleotide variant |
not provided [RCV003408936] |
Chr1:152305003 [GRCh38]
Chr1:152277479 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9835G>A (p.Ala3279Thr) |
single nucleotide variant |
FLG-related disorder [RCV004750376]|not provided [RCV003408937] |
Chr1:152305051 [GRCh38]
Chr1:152277527 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.9567C>G (p.Ala3189=) |
single nucleotide variant |
not provided [RCV003408945] |
Chr1:152305319 [GRCh38]
Chr1:152277795 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9565G>C (p.Ala3189Pro) |
single nucleotide variant |
not provided [RCV003408946] |
Chr1:152305321 [GRCh38]
Chr1:152277797 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9387G>T (p.Ser3129=) |
single nucleotide variant |
not provided [RCV003408947] |
Chr1:152305499 [GRCh38]
Chr1:152277975 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9165G>A (p.Thr3055=) |
single nucleotide variant |
not provided [RCV003408948] |
Chr1:152305721 [GRCh38]
Chr1:152278197 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8670T>C (p.Ser2890=) |
single nucleotide variant |
not provided [RCV003408949] |
Chr1:152306216 [GRCh38]
Chr1:152278692 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8462C>T (p.Ser2821Phe) |
single nucleotide variant |
not provided [RCV003408951] |
Chr1:152306424 [GRCh38]
Chr1:152278900 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8415G>A (p.Ser2805=) |
single nucleotide variant |
not provided [RCV003408952] |
Chr1:152306471 [GRCh38]
Chr1:152278947 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8127C>A (p.Ala2709=) |
single nucleotide variant |
not provided [RCV003408953] |
Chr1:152306759 [GRCh38]
Chr1:152279235 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7995C>T (p.Ser2665=) |
single nucleotide variant |
not provided [RCV003408954] |
Chr1:152306891 [GRCh38]
Chr1:152279367 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6918T>C (p.His2306=) |
single nucleotide variant |
not provided [RCV003408968] |
Chr1:152307968 [GRCh38]
Chr1:152280444 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4413G>A (p.Glu1471=) |
single nucleotide variant |
not provided [RCV003408982] |
Chr1:152310473 [GRCh38]
Chr1:152282949 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4369C>A (p.Gln1457Lys) |
single nucleotide variant |
not provided [RCV003408983] |
Chr1:152310517 [GRCh38]
Chr1:152282993 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4029G>A (p.Val1343=) |
single nucleotide variant |
not provided [RCV003408984] |
Chr1:152310857 [GRCh38]
Chr1:152283333 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3849C>T (p.Ser1283=) |
single nucleotide variant |
not provided [RCV003408985] |
Chr1:152311037 [GRCh38]
Chr1:152283513 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3832A>G (p.Arg1278Gly) |
single nucleotide variant |
not provided [RCV003408986] |
Chr1:152311054 [GRCh38]
Chr1:152283530 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3093A>G (p.Glu1031=) |
single nucleotide variant |
not provided [RCV003408994] |
Chr1:152311793 [GRCh38]
Chr1:152284269 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3057G>A (p.Ala1019=) |
single nucleotide variant |
not provided [RCV003408995] |
Chr1:152311829 [GRCh38]
Chr1:152284305 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2985C>T (p.His995=) |
single nucleotide variant |
not provided [RCV003408996] |
Chr1:152311901 [GRCh38]
Chr1:152284377 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2979C>T (p.Ala993=) |
single nucleotide variant |
not provided [RCV003408997] |
Chr1:152311907 [GRCh38]
Chr1:152284383 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2838T>G (p.Val946=) |
single nucleotide variant |
not provided [RCV003408998] |
Chr1:152312048 [GRCh38]
Chr1:152284524 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1632C>T (p.Ser544=) |
single nucleotide variant |
not provided [RCV003409011] |
Chr1:152313254 [GRCh38]
Chr1:152285730 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1823C>A (p.Ser608Ter) |
single nucleotide variant |
not provided [RCV003442499] |
Chr1:152313063 [GRCh38]
Chr1:152285539 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.3185G>A (p.Gly1062Glu) |
single nucleotide variant |
not provided [RCV004585510] |
Chr1:152311701 [GRCh38]
Chr1:152284177 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11033_11036del (p.Ser3678fs) |
microsatellite |
not provided [RCV004588633] |
Chr1:152303850..152303853 [GRCh38]
Chr1:152276326..152276329 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3 |
copy number gain |
not specified [RCV003986717] |
Chr1:144368497..158992086 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3 |
copy number gain |
not specified [RCV003987261] |
Chr1:146577511..157155587 [GRCh37]
Chr1:1q21.1-23.1 |
pathogenic |
| NM_002016.2(FLG):c.5634C>T (p.Ser1878=) |
single nucleotide variant |
not provided [RCV003993103] |
Chr1:152309252 [GRCh38]
Chr1:152281728 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10113C>T (p.Ser3371=) |
single nucleotide variant |
not provided [RCV003993128] |
Chr1:152304773 [GRCh38]
Chr1:152277249 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4911A>C (p.Gln1637His) |
single nucleotide variant |
not provided [RCV003884245] |
Chr1:152309975 [GRCh38]
Chr1:152282451 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8442C>T (p.Ser2814=) |
single nucleotide variant |
not provided [RCV003886019] |
Chr1:152306444 [GRCh38]
Chr1:152278920 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2421T>C (p.His807=) |
single nucleotide variant |
FLG-related disorder [RCV003894231] |
Chr1:152312465 [GRCh38]
Chr1:152284941 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5702G>T (p.Gly1901Val) |
single nucleotide variant |
not provided [RCV003993100] |
Chr1:152309184 [GRCh38]
Chr1:152281660 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5655C>T (p.His1885=) |
single nucleotide variant |
not provided [RCV003993102] |
Chr1:152309231 [GRCh38]
Chr1:152281707 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2118A>C (p.Glu706Asp) |
single nucleotide variant |
not provided [RCV004546370] |
Chr1:152312768 [GRCh38]
Chr1:152285244 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.585C>T (p.Asp195=) |
single nucleotide variant |
FLG-related disorder [RCV003958969] |
Chr1:152314301 [GRCh38]
Chr1:152286777 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5050_5051delinsA (p.Arg1684fs) |
indel |
Ichthyosis vulgaris [RCV004555129] |
Chr1:152309835..152309836 [GRCh38]
Chr1:152282311..152282312 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.2225C>A (p.Ser742Tyr) |
single nucleotide variant |
FLG-related disorder [RCV003981244] |
Chr1:152312661 [GRCh38]
Chr1:152285137 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.10976C>A (p.Ser3659Tyr) |
single nucleotide variant |
not provided [RCV003885835] |
Chr1:152303910 [GRCh38]
Chr1:152276386 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8196T>G (p.Ser2732=) |
single nucleotide variant |
not provided [RCV003886089] |
Chr1:152306690 [GRCh38]
Chr1:152279166 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4271_4272del (p.Lys1424fs) |
deletion |
not provided [RCV003886758] |
Chr1:152310614..152310615 [GRCh38]
Chr1:152283090..152283091 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.387A>G (p.Glu129=) |
single nucleotide variant |
FLG-related disorder [RCV003967111] |
Chr1:152314499 [GRCh38]
Chr1:152286975 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1791C>T (p.Ser597=) |
single nucleotide variant |
FLG-related disorder [RCV003937028] |
Chr1:152313095 [GRCh38]
Chr1:152285571 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2174C>T (p.Thr725Ile) |
single nucleotide variant |
FLG-related disorder [RCV003979089] |
Chr1:152312712 [GRCh38]
Chr1:152285188 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2613C>A (p.His871Gln) |
single nucleotide variant |
FLG-related disorder [RCV003932032] |
Chr1:152312273 [GRCh38]
Chr1:152284749 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11312G>T (p.Gly3771Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004369684]|not provided [RCV003885921] |
Chr1:152303574 [GRCh38]
Chr1:152276050 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.9306A>T (p.Ala3102=) |
single nucleotide variant |
not provided [RCV003885949] |
Chr1:152305580 [GRCh38]
Chr1:152278056 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.975G>A (p.Ala325=) |
single nucleotide variant |
FLG-related disorder [RCV003926821] |
Chr1:152313911 [GRCh38]
Chr1:152286387 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2181C>A (p.His727Gln) |
single nucleotide variant |
FLG-related disorder [RCV003973932] |
Chr1:152312705 [GRCh38]
Chr1:152285181 [GRCh37]
Chr1:1q21.3 |
benign |
| NM_002016.2(FLG):c.2733A>C (p.Ser911=) |
single nucleotide variant |
FLG-related disorder [RCV003966790] |
Chr1:152312153 [GRCh38]
Chr1:152284629 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2346G>A (p.Arg782=) |
single nucleotide variant |
FLG-related disorder [RCV003934468] |
Chr1:152312540 [GRCh38]
Chr1:152285016 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.561G>A (p.Lys187=) |
single nucleotide variant |
FLG-related disorder [RCV003934483] |
Chr1:152314325 [GRCh38]
Chr1:152286801 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4676C>A (p.Ser1559Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV003989034] |
Chr1:152310210 [GRCh38]
Chr1:152282686 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.7906G>A (p.Gly2636Ser) |
single nucleotide variant |
not provided [RCV003993050] |
Chr1:152306980 [GRCh38]
Chr1:152279456 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5700G>A (p.Val1900=) |
single nucleotide variant |
not provided [RCV003993101] |
Chr1:152309186 [GRCh38]
Chr1:152281662 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3839C>A (p.Ser1280Ter) |
single nucleotide variant |
not provided [RCV004722222] |
Chr1:152311047 [GRCh38]
Chr1:152283523 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1080C>T (p.His360=) |
single nucleotide variant |
FLG-related disorder [RCV003949828] |
Chr1:152313806 [GRCh38]
Chr1:152286282 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.11684C>T (p.Ser3895Leu) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV003990499] |
Chr1:152303202 [GRCh38]
Chr1:152275678 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7628G>T (p.Ser2543Ile) |
single nucleotide variant |
not provided [RCV003885784] |
Chr1:152307258 [GRCh38]
Chr1:152279734 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2039del (p.Lys679_Ser680insTer) |
deletion |
Ichthyosis vulgaris [RCV003992069] |
Chr1:152312847 [GRCh38]
Chr1:152285323 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9452C>A (p.Ala3151Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004369685]|not provided [RCV003885965] |
Chr1:152305434 [GRCh38]
Chr1:152277910 [GRCh37]
Chr1:1q21.3 |
likely benign|uncertain significance |
| NM_002016.2(FLG):c.4425C>A (p.Asn1475Lys) |
single nucleotide variant |
not provided [RCV003885970] |
Chr1:152310461 [GRCh38]
Chr1:152282937 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9009C>G (p.Val3003=) |
single nucleotide variant |
not provided [RCV003886810] |
Chr1:152305877 [GRCh38]
Chr1:152278353 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8404C>G (p.His2802Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004389362] |
Chr1:152306482 [GRCh38]
Chr1:152278958 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8858G>C (p.Arg2953Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004389371] |
Chr1:152306028 [GRCh38]
Chr1:152278504 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7479C>G (p.Ser2493Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004389345] |
Chr1:152307407 [GRCh38]
Chr1:152279883 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7664A>C (p.Glu2555Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004389349] |
Chr1:152307222 [GRCh38]
Chr1:152279698 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7687T>C (p.Trp2563Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004389351] |
Chr1:152307199 [GRCh38]
Chr1:152279675 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7698T>G (p.Ser2566Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004389352] |
Chr1:152307188 [GRCh38]
Chr1:152279664 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8347C>G (p.Gln2783Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004389360] |
Chr1:152306539 [GRCh38]
Chr1:152279015 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8455A>G (p.Thr2819Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004389363] |
Chr1:152306431 [GRCh38]
Chr1:152278907 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.731A>G (p.Tyr244Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004389343] |
Chr1:152314155 [GRCh38]
Chr1:152286631 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7588T>A (p.Ser2530Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004389346] |
Chr1:152307298 [GRCh38]
Chr1:152279774 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7645G>T (p.Val2549Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004389348] |
Chr1:152307241 [GRCh38]
Chr1:152279717 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9379G>A (p.Glu3127Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004389378] |
Chr1:152305507 [GRCh38]
Chr1:152277983 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9566C>T (p.Ala3189Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004389383] |
Chr1:152305320 [GRCh38]
Chr1:152277796 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.799T>A (p.Ser267Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004389355] |
Chr1:152314087 [GRCh38]
Chr1:152286563 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8056G>A (p.Gly2686Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004389356] |
Chr1:152306830 [GRCh38]
Chr1:152279306 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8176G>T (p.Gly2726Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004389357] |
Chr1:152306710 [GRCh38]
Chr1:152279186 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8753C>G (p.Ser2918Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004389366] |
Chr1:152306133 [GRCh38]
Chr1:152278609 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9344G>T (p.Gly3115Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004389377] |
Chr1:152305542 [GRCh38]
Chr1:152278018 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9433T>C (p.Ser3145Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004389379] |
Chr1:152305453 [GRCh38]
Chr1:152277929 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9620G>C (p.Arg3207Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004389384] |
Chr1:152305266 [GRCh38]
Chr1:152277742 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9656G>A (p.Ser3219Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004389387] |
Chr1:152305230 [GRCh38]
Chr1:152277706 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9771T>A (p.His3257Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004389389] |
Chr1:152305115 [GRCh38]
Chr1:152277591 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9952A>C (p.Ile3318Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004389390] |
Chr1:152304934 [GRCh38]
Chr1:152277410 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3311G>A (p.Arg1104His) |
single nucleotide variant |
not provided [RCV004585641] |
Chr1:152311575 [GRCh38]
Chr1:152284051 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7669C>T (p.Pro2557Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004389350] |
Chr1:152307217 [GRCh38]
Chr1:152279693 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8180G>A (p.Arg2727Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004389358] |
Chr1:152306706 [GRCh38]
Chr1:152279182 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8254C>G (p.His2752Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004389359] |
Chr1:152306632 [GRCh38]
Chr1:152279108 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8828C>A (p.Ser2943Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004389368] |
Chr1:152306058 [GRCh38]
Chr1:152278534 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9472T>A (p.Ser3158Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004389381] |
Chr1:152305414 [GRCh38]
Chr1:152277890 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9647G>A (p.Ser3216Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004389386] |
Chr1:152305239 [GRCh38]
Chr1:152277715 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9973T>C (p.Ser3325Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004389392] |
Chr1:152304913 [GRCh38]
Chr1:152277389 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3037del (p.Ser1013fs) |
deletion |
Ichthyosis vulgaris [RCV004560538] |
Chr1:152311849 [GRCh38]
Chr1:152284325 [GRCh37]
Chr1:1q21.3 |
likely pathogenic |
| NM_002016.2(FLG):c.10100G>A (p.Ser3367Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386709] |
Chr1:152304786 [GRCh38]
Chr1:152277262 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10124G>T (p.Arg3375Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386710] |
Chr1:152304762 [GRCh38]
Chr1:152277238 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10430G>A (p.Arg3477His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386716] |
Chr1:152304456 [GRCh38]
Chr1:152276932 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1065A>C (p.Gln355His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386718] |
Chr1:152313821 [GRCh38]
Chr1:152286297 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1081G>A (p.Ala361Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386724] |
Chr1:152313805 [GRCh38]
Chr1:152286281 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10924A>T (p.Ile3642Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004386727] |
Chr1:152303962 [GRCh38]
Chr1:152276438 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11000G>A (p.Ser3667Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386728] |
Chr1:152303886 [GRCh38]
Chr1:152276362 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11622G>C (p.Glu3874Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004386740] |
Chr1:152303264 [GRCh38]
Chr1:152275740 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11661T>G (p.His3887Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386741] |
Chr1:152303225 [GRCh38]
Chr1:152275701 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.141T>A (p.Asn47Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386748] |
Chr1:152314745 [GRCh38]
Chr1:152287221 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1843A>G (p.Arg615Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004386753] |
Chr1:152313043 [GRCh38]
Chr1:152285519 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2950C>A (p.His984Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386778] |
Chr1:152311936 [GRCh38]
Chr1:152284412 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3158A>G (p.Gln1053Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386785] |
Chr1:152311728 [GRCh38]
Chr1:152284204 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3286C>G (p.Gln1096Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386787] |
Chr1:152311600 [GRCh38]
Chr1:152284076 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3504C>A (p.His1168Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386795] |
Chr1:152311382 [GRCh38]
Chr1:152283858 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2867C>T (p.Ser956Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386777] |
Chr1:152312019 [GRCh38]
Chr1:152284495 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3910G>C (p.Asp1304His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386800] |
Chr1:152310976 [GRCh38]
Chr1:152283452 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4028T>C (p.Val1343Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004386802] |
Chr1:152310858 [GRCh38]
Chr1:152283334 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4220C>T (p.Thr1407Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004386804] |
Chr1:152310666 [GRCh38]
Chr1:152283142 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4627C>A (p.Gln1543Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386808] |
Chr1:152310259 [GRCh38]
Chr1:152282735 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6031C>A (p.Leu2011Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004386829] |
Chr1:152308855 [GRCh38]
Chr1:152281331 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6583G>C (p.Asp2195His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386842] |
Chr1:152308303 [GRCh38]
Chr1:152280779 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6738C>A (p.Asp2246Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386844] |
Chr1:152308148 [GRCh38]
Chr1:152280624 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6741T>G (p.Ser2247Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386845] |
Chr1:152308145 [GRCh38]
Chr1:152280621 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6829G>C (p.Asp2277His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386848] |
Chr1:152308057 [GRCh38]
Chr1:152280533 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7024A>G (p.Arg2342Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004386854] |
Chr1:152307862 [GRCh38]
Chr1:152280338 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7112G>A (p.Ser2371Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386857] |
Chr1:152307774 [GRCh38]
Chr1:152280250 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7195T>C (p.Ser2399Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386859] |
Chr1:152307691 [GRCh38]
Chr1:152280167 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7289G>A (p.Arg2430Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386862] |
Chr1:152307597 [GRCh38]
Chr1:152280073 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2711A>C (p.Asp904Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004386774] |
Chr1:152312175 [GRCh38]
Chr1:152284651 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2626T>C (p.Ser876Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386773] |
Chr1:152312260 [GRCh38]
Chr1:152284736 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2578T>C (p.Ser860Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386772] |
Chr1:152312308 [GRCh38]
Chr1:152284784 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2577A>T (p.Gln859His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386771] |
Chr1:152312309 [GRCh38]
Chr1:152284785 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2561G>A (p.Gly854Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386769] |
Chr1:152312325 [GRCh38]
Chr1:152284801 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2407T>C (p.Ser803Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386767] |
Chr1:152312479 [GRCh38]
Chr1:152284955 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2317C>A (p.Gln773Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386764] |
Chr1:152312569 [GRCh38]
Chr1:152285045 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2207A>G (p.Asp736Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004386760] |
Chr1:152312679 [GRCh38]
Chr1:152285155 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2185C>A (p.Gln729Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386759] |
Chr1:152312701 [GRCh38]
Chr1:152285177 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1979C>A (p.Pro660His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386756] |
Chr1:152312907 [GRCh38]
Chr1:152285383 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5001A>C (p.Ala1667=) |
single nucleotide variant |
not provided [RCV004546088] |
Chr1:152309885 [GRCh38]
Chr1:152282361 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1067C>T (p.Ser356Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386719] |
Chr1:152313819 [GRCh38]
Chr1:152286295 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11207G>T (p.Gly3736Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004386733] |
Chr1:152303679 [GRCh38]
Chr1:152276155 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11402A>T (p.His3801Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386738] |
Chr1:152303484 [GRCh38]
Chr1:152275960 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11611G>A (p.Ala3871Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386739] |
Chr1:152303275 [GRCh38]
Chr1:152275751 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.305G>T (p.Arg102Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004386780] |
Chr1:152314581 [GRCh38]
Chr1:152287057 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.312C>G (p.His104Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386783] |
Chr1:152314574 [GRCh38]
Chr1:152287050 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3263G>A (p.Gly1088Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004386786] |
Chr1:152311623 [GRCh38]
Chr1:152284099 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.452G>A (p.Arg151Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386807] |
Chr1:152314434 [GRCh38]
Chr1:152286910 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4673G>C (p.Gly1558Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004386810] |
Chr1:152310213 [GRCh38]
Chr1:152282689 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4982C>T (p.Ser1661Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004386813] |
Chr1:152309904 [GRCh38]
Chr1:152282380 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5147G>T (p.Gly1716Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004386816] |
Chr1:152309739 [GRCh38]
Chr1:152282215 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6116A>C (p.Tyr2039Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004386831] |
Chr1:152308770 [GRCh38]
Chr1:152281246 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6205C>A (p.Gln2069Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386832] |
Chr1:152308681 [GRCh38]
Chr1:152281157 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6917A>G (p.His2306Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386851] |
Chr1:152307969 [GRCh38]
Chr1:152280445 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2429C>T (p.Thr810Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004386768] |
Chr1:152312457 [GRCh38]
Chr1:152284933 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2354A>G (p.Glu785Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004386766] |
Chr1:152312532 [GRCh38]
Chr1:152285008 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2212G>A (p.Gly738Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386761] |
Chr1:152312674 [GRCh38]
Chr1:152285150 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1982G>A (p.Arg661Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386757] |
Chr1:152312904 [GRCh38]
Chr1:152285380 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7598G>A (p.Arg2533His) |
single nucleotide variant |
Inborn genetic diseases [RCV004389347] |
Chr1:152307288 [GRCh38]
Chr1:152279764 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7834G>T (p.Asp2612Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004389354] |
Chr1:152307052 [GRCh38]
Chr1:152279528 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8707G>A (p.Asp2903Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004389365] |
Chr1:152306179 [GRCh38]
Chr1:152278655 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.8842A>G (p.Arg2948Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004389369] |
Chr1:152306044 [GRCh38]
Chr1:152278520 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9458G>A (p.Arg3153His) |
single nucleotide variant |
Inborn genetic diseases [RCV004389380] |
Chr1:152305428 [GRCh38]
Chr1:152277904 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9557C>T (p.Ser3186Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004389382] |
Chr1:152305329 [GRCh38]
Chr1:152277805 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10208C>T (p.Thr3403Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004386711] |
Chr1:152304678 [GRCh38]
Chr1:152277154 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10388A>T (p.His3463Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386715] |
Chr1:152304498 [GRCh38]
Chr1:152276974 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10765G>A (p.Gly3589Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386721] |
Chr1:152304121 [GRCh38]
Chr1:152276597 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.1076G>T (p.Arg359Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386723] |
Chr1:152313810 [GRCh38]
Chr1:152286286 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11056G>A (p.Gly3686Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386730] |
Chr1:152303830 [GRCh38]
Chr1:152276306 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11217C>G (p.His3739Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386734] |
Chr1:152303669 [GRCh38]
Chr1:152276145 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11235C>A (p.Ser3745Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386735] |
Chr1:152303651 [GRCh38]
Chr1:152276127 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11380C>A (p.Gln3794Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386737] |
Chr1:152303506 [GRCh38]
Chr1:152275982 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11783A>C (p.His3928Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386742] |
Chr1:152303103 [GRCh38]
Chr1:152275579 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11996T>C (p.Val3999Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004386743] |
Chr1:152302890 [GRCh38]
Chr1:152275366 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.12004A>G (p.Asn4002Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004386744] |
Chr1:152302882 [GRCh38]
Chr1:152275358 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3106C>T (p.Arg1036Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386782] |
Chr1:152311780 [GRCh38]
Chr1:152284256 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3337C>T (p.Arg1113Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386789] |
Chr1:152311549 [GRCh38]
Chr1:152284025 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3380C>A (p.Ser1127Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386790] |
Chr1:152311506 [GRCh38]
Chr1:152283982 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3446C>T (p.Ala1149Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004386792] |
Chr1:152311440 [GRCh38]
Chr1:152283916 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3816G>C (p.Gln1272His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386797] |
Chr1:152311070 [GRCh38]
Chr1:152283546 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5106T>G (p.Asp1702Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386815] |
Chr1:152309780 [GRCh38]
Chr1:152282256 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5254C>T (p.Arg1752Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386818] |
Chr1:152309632 [GRCh38]
Chr1:152282108 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5485T>C (p.Tyr1829His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386822] |
Chr1:152309401 [GRCh38]
Chr1:152281877 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5582C>G (p.Ser1861Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386824] |
Chr1:152309304 [GRCh38]
Chr1:152281780 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5605C>A (p.Arg1869Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004386825] |
Chr1:152309281 [GRCh38]
Chr1:152281757 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5836G>T (p.Ala1946Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004386827] |
Chr1:152309050 [GRCh38]
Chr1:152281526 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6251C>T (p.Ser2084Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004386834] |
Chr1:152308635 [GRCh38]
Chr1:152281111 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6601G>A (p.Asp2201Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386843] |
Chr1:152308285 [GRCh38]
Chr1:152280761 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6797A>G (p.Asn2266Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004386846] |
Chr1:152308089 [GRCh38]
Chr1:152280565 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2771G>T (p.Arg924Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004386775] |
Chr1:152312115 [GRCh38]
Chr1:152284591 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7037T>A (p.Ile2346Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386855] |
Chr1:152307849 [GRCh38]
Chr1:152280325 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7112G>C (p.Ser2371Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386858] |
Chr1:152307774 [GRCh38]
Chr1:152280250 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7279G>T (p.Ala2427Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004386861] |
Chr1:152307607 [GRCh38]
Chr1:152280083 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2333C>T (p.Ser778Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004386765] |
Chr1:152312553 [GRCh38]
Chr1:152285029 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3561A>T (p.Arg1187Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004386796] |
Chr1:152311325 [GRCh38]
Chr1:152283801 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.2564C>G (p.Ser855Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386770] |
Chr1:152312322 [GRCh38]
Chr1:152284798 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.2234G>C (p.Ser745Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386762] |
Chr1:152312652 [GRCh38]
Chr1:152285128 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.20A>C (p.Asn7Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386758] |
Chr1:152315437 [GRCh38]
Chr1:152287913 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1861G>C (p.Val621Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386754] |
Chr1:152313025 [GRCh38]
Chr1:152285501 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5460C>G (p.Ser1820Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386821] |
Chr1:152309426 [GRCh38]
Chr1:152281902 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6914A>G (p.His2305Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386850] |
Chr1:152307972 [GRCh38]
Chr1:152280448 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.8989G>A (p.Gly2997Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004389372] |
Chr1:152305897 [GRCh38]
Chr1:152278373 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7775A>C (p.His2592Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004389353] |
Chr1:152307111 [GRCh38]
Chr1:152279587 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.859T>C (p.Ser287Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004389364] |
Chr1:152314027 [GRCh38]
Chr1:152286503 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.9109G>A (p.Ala3037Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004389373] |
Chr1:152305777 [GRCh38]
Chr1:152278253 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.914G>A (p.Gly305Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004389374] |
Chr1:152313972 [GRCh38]
Chr1:152286448 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9268C>T (p.Arg3090Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004389376] |
Chr1:152305618 [GRCh38]
Chr1:152278094 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.9747C>A (p.His3249Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004389388] |
Chr1:152305139 [GRCh38]
Chr1:152277615 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1006C>G (p.Pro336Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004386708] |
Chr1:152313880 [GRCh38]
Chr1:152286356 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10233A>T (p.Gln3411His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386712] |
Chr1:152304653 [GRCh38]
Chr1:152277129 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10242C>A (p.His3414Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386713] |
Chr1:152304644 [GRCh38]
Chr1:152277120 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10351G>A (p.Glu3451Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386714] |
Chr1:152304535 [GRCh38]
Chr1:152277011 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10466C>T (p.Thr3489Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004386717] |
Chr1:152304420 [GRCh38]
Chr1:152276896 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10717G>C (p.Asp3573His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386720] |
Chr1:152304169 [GRCh38]
Chr1:152276645 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10838C>T (p.Ser3613Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004386725] |
Chr1:152304048 [GRCh38]
Chr1:152276524 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.10907G>A (p.Ser3636Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386726] |
Chr1:152303979 [GRCh38]
Chr1:152276455 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11047G>C (p.Gly3683Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386729] |
Chr1:152303839 [GRCh38]
Chr1:152276315 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11170C>A (p.His3724Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386731] |
Chr1:152303716 [GRCh38]
Chr1:152276192 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.11266G>A (p.Asp3756Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386736] |
Chr1:152303620 [GRCh38]
Chr1:152276096 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.12089C>G (p.Thr4030Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386745] |
Chr1:152302797 [GRCh38]
Chr1:152275273 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.12170A>G (p.Tyr4057Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386747] |
Chr1:152302716 [GRCh38]
Chr1:152275192 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1442C>A (p.Ala481Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004386749] |
Chr1:152313444 [GRCh38]
Chr1:152285920 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1480G>C (p.Gly494Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386750] |
Chr1:152313406 [GRCh38]
Chr1:152285882 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1523C>T (p.Ala508Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004386751] |
Chr1:152313363 [GRCh38]
Chr1:152285839 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.1760G>A (p.Arg587His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386752] |
Chr1:152313126 [GRCh38]
Chr1:152285602 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.3077G>A (p.Arg1026Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386781] |
Chr1:152311809 [GRCh38]
Chr1:152284285 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3329G>C (p.Arg1110Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386788] |
Chr1:152311557 [GRCh38]
Chr1:152284033 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.345G>C (p.Gln115His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386793] |
Chr1:152314541 [GRCh38]
Chr1:152287017 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3502C>T (p.His1168Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386794] |
Chr1:152311384 [GRCh38]
Chr1:152283860 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.3844G>A (p.Asp1282Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386798] |
Chr1:152311042 [GRCh38]
Chr1:152283518 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4016A>G (p.His1339Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004386801] |
Chr1:152310870 [GRCh38]
Chr1:152283346 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.4412A>G (p.Glu1471Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004386806] |
Chr1:152310474 [GRCh38]
Chr1:152282950 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4661C>T (p.Ser1554Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004386809] |
Chr1:152310225 [GRCh38]
Chr1:152282701 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.4969C>T (p.His1657Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386812] |
Chr1:152309917 [GRCh38]
Chr1:152282393 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5010G>T (p.Gln1670His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386814] |
Chr1:152309876 [GRCh38]
Chr1:152282352 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5194C>A (p.Gln1732Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004386817] |
Chr1:152309692 [GRCh38]
Chr1:152282168 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5332G>A (p.Ala1778Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386819] |
Chr1:152309554 [GRCh38]
Chr1:152282030 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5441G>A (p.Arg1814His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386820] |
Chr1:152309445 [GRCh38]
Chr1:152281921 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.5522C>T (p.Ser1841Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004386823] |
Chr1:152309364 [GRCh38]
Chr1:152281840 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.5968G>A (p.Ala1990Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386828] |
Chr1:152308918 [GRCh38]
Chr1:152281394 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6040G>C (p.Ala2014Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386830] |
Chr1:152308846 [GRCh38]
Chr1:152281322 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6217A>C (p.Lys2073Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386833] |
Chr1:152308669 [GRCh38]
Chr1:152281145 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6257G>A (p.Arg2086His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386835] |
Chr1:152308629 [GRCh38]
Chr1:152281105 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6259T>C (p.Ser2087Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386836] |
Chr1:152308627 [GRCh38]
Chr1:152281103 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6329G>A (p.Ser2110Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386837] |
Chr1:152308557 [GRCh38]
Chr1:152281033 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6415C>G (p.Arg2139Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004386839] |
Chr1:152308471 [GRCh38]
Chr1:152280947 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6416G>A (p.Arg2139His) |
single nucleotide variant |
Inborn genetic diseases [RCV004386840] |
Chr1:152308470 [GRCh38]
Chr1:152280946 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6497C>T (p.Ser2166Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004386841] |
Chr1:152308389 [GRCh38]
Chr1:152280865 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6811G>A (p.Ala2271Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004386847] |
Chr1:152308075 [GRCh38]
Chr1:152280551 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6872G>C (p.Gly2291Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004386849] |
Chr1:152308014 [GRCh38]
Chr1:152280490 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6962A>C (p.Gln2321Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004386852] |
Chr1:152307924 [GRCh38]
Chr1:152280400 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7073G>A (p.Ser2358Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004386856] |
Chr1:152307813 [GRCh38]
Chr1:152280289 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.7208G>A (p.Arg2403Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004386860] |
Chr1:152307678 [GRCh38]
Chr1:152280154 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.10178A>G (p.His3393Arg) |
single nucleotide variant |
not provided [RCV004575028] |
Chr1:152304708 [GRCh38]
Chr1:152277184 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.7774C>A (p.His2592Asn) |
single nucleotide variant |
not provided [RCV004585294] |
Chr1:152307112 [GRCh38]
Chr1:152279588 [GRCh37]
Chr1:1q21.3 |
likely benign |
| NM_002016.2(FLG):c.6867_6868del (p.Arg2289fs) |
microsatellite |
not provided [RCV004590857] |
Chr1:152308018..152308019 [GRCh38]
Chr1:152280494..152280495 [GRCh37]
Chr1:1q21.3 |
pathogenic |
| NM_002016.2(FLG):c.1478A>G (p.Gln493Arg) |
single nucleotide variant |
not specified [RCV004690921] |
Chr1:152313408 [GRCh38]
Chr1:152285884 [GRCh37]
Chr1:1q21.3 |
uncertain significance |
| NM_002016.2(FLG):c.6568A>G (p.Ser2190Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004625693] |
Chr1:152308318 [GRCh38]
Chr1:152280794 [GRCh37]
Chr1:1q21.3 |
