NM_002016.1(FLG):c.9595C>T (p.Gln3199Ter) |
single nucleotide variant |
not provided [RCV000521469] |
Chr1:152305291 [GRCh38] Chr1:152277767 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) |
single nucleotide variant |
Dermatitis, atopic [RCV000787952]|Dermatitis, atopic, 2 [RCV000678332]|Dermatitis, atopic, 2 [RCV000763246]|Dermatitis, atopic, 2, susceptibility to [RCV000017713]|Eczema [RCV001270061]|FLG-related disorders [RCV001270780]|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 |
microsatellite |
Dermatitis, atopic, 2 [RCV000191085]|Dermatitis, atopic, 2 [RCV000678372]|Dermatitis, atopic, 2, susceptibility to [RCV000017715]|Eczema [RCV001270060]|FLG-Related Disorder [RCV000709934]|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_002016.1(FLG):c.487G>T (p.Gly163Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV000763247]|not provided [RCV000627348] |
Chr1:152314399 [GRCh38] Chr1:152286875 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.7661C>G (p.Ser2554Ter) |
single nucleotide variant |
Dermatitis, atopic, 2, susceptibility to [RCV000017717]|Ichthyosis vulgaris [RCV000017716] |
Chr1:152307225 [GRCh38] Chr1:152279701 [GRCh37] Chr1:1q21.3 |
pathogenic|risk factor |
NM_002016.1(FLG):c.12064A>T (p.Lys4022Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000490507]|not provided [RCV000114742] |
Chr1:152302822 [GRCh38] Chr1:152275298 [GRCh37] Chr1:1q21.3 |
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_002016.1(FLG):c.11573G>A (p.Arg3858His) |
single nucleotide variant |
not specified [RCV000171158] |
Chr1:152303313 [GRCh38] Chr1:152275789 [GRCh37] Chr1:1q21.3 |
likely pathogenic|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 |
single nucleotide variant |
Ichthyosis vulgaris [RCV001169996]|not provided [RCV000254718] |
Chr1:152304562 [GRCh38] Chr1:152277038 [GRCh37] Chr1:1q21.3 |
pathogenic|uncertain significance |
NM_002016.1(FLG):c.7264G>T (p.Glu2422Ter) |
single nucleotide variant |
not provided [RCV000255031] |
Chr1:152307622 [GRCh38] Chr1:152280098 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.2(FLG):c.2476C>T |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV001255624]|FLG-related disorders [RCV001270779]|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_002016.1(FLG):c.7487del (p.Thr2496fs) |
deletion |
not provided [RCV000400089] |
Chr1:152307399 [GRCh38] Chr1:152279875 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.2218C>T (p.Arg740Ter) |
single nucleotide variant |
not provided [RCV000293346] |
Chr1:152312668 [GRCh38] Chr1:152285144 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.2(FLG):c.9947C>G |
single nucleotide variant |
Ichthyosis vulgaris [RCV000991154]|not provided [RCV000293549] |
Chr1:152304939 [GRCh38] Chr1:152277415 [GRCh37] Chr1:1q21.3 |
pathogenic|likely pathogenic |
NM_002016.1(FLG):c.94G>T (p.Glu32Ter) |
single nucleotide variant |
FLG-related disorders [RCV001270781]|Ichthyosis vulgaris [RCV000709724]|not provided [RCV000300225] |
Chr1:152315363 [GRCh38] Chr1:152287839 [GRCh37] Chr1:1q21.3 |
pathogenic|likely pathogenic |
NM_002016.1(FLG):c.6109C>T (p.Arg2037Ter) |
single nucleotide variant |
not provided [RCV000261767] |
Chr1:152308777 [GRCh38] Chr1:152281253 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.11246C>G (p.Ser3749Ter) |
single nucleotide variant |
not provided [RCV000277316] |
Chr1:152303640 [GRCh38] Chr1:152276116 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.11452C>T (p.Gln3818Ter) |
single nucleotide variant |
not provided [RCV000365311] |
Chr1:152303434 [GRCh38] Chr1:152275910 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.7339C>T (p.Arg2447Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV000763245]|Dermatitis, atopic, 2 [RCV001253562]|Ichthyosis vulgaris [RCV000991155]|not provided [RCV000255655] |
Chr1:152307547 [GRCh38] Chr1:152280023 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.2(FLG):c.9740C>A |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV001263482]|Ichthyosis vulgaris [RCV000986413]|not provided [RCV000255466] |
Chr1:152305146 [GRCh38] Chr1:152277622 [GRCh37] Chr1:1q21.3 |
pathogenic|likely pathogenic |
NM_002016.1(FLG):c.10225C>T (p.Arg3409Ter) |
single nucleotide variant |
not provided [RCV000255606] |
Chr1:152304661 [GRCh38] Chr1:152277137 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.6239C>A (p.Ser2080Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000210631]|not provided [RCV000598981] |
Chr1:152308647 [GRCh38] Chr1:152281123 [GRCh37] Chr1:1q21.3 |
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_002016.1(FLG):c.779C>A (p.Ser260Ter) |
single nucleotide variant |
not provided [RCV000358958] |
Chr1:152314107 [GRCh38] Chr1:152286583 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.4786C>T (p.Gln1596Ter) |
single nucleotide variant |
not provided [RCV000323173] |
Chr1:152310100 [GRCh38] Chr1:152282576 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.2427G>A (p.Trp809Ter) |
single nucleotide variant |
not provided [RCV000335790] |
Chr1:152312459 [GRCh38] Chr1:152284935 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.1063C>T (p.Gln355Ter) |
single nucleotide variant |
not provided [RCV000342574] |
Chr1:152313823 [GRCh38] Chr1:152286299 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.7358C>A (p.Ser2453Ter) |
single nucleotide variant |
not provided [RCV000520009] |
Chr1:152307528 [GRCh38] Chr1:152280004 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5170G>T (p.Gly1724Ter) |
single nucleotide variant |
Dermatitis, atopic, 2 [RCV000626069] |
Chr1:152309716 [GRCh38] Chr1:152282192 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(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_002016.1(FLG):c.7267_7268del (p.Gln2423fs) |
deletion |
not provided [RCV000256154] |
Chr1:152307618..152307619 [GRCh38] Chr1:152280094..152280095 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.2362C>T (p.Arg788Ter) |
single nucleotide variant |
not provided [RCV000521641] |
Chr1:152312524 [GRCh38] Chr1:152285000 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.7189C>T (p.Gln2397Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000490295] |
Chr1:152307697 [GRCh38] Chr1:152280173 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5717C>A (p.Ser1906Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000490339] |
Chr1:152309169 [GRCh38] Chr1:152281645 [GRCh37] Chr1:1q21.3 |
likely pathogenic |
NM_002016.1(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_002016.1(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_002016.1(FLG):c.1297_1298del (p.Asp433fs) |
deletion |
not provided [RCV000490026] |
Chr1:152313588..152313589 [GRCh38] Chr1:152286064..152286065 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.477dup (p.Glu160fs) |
duplication |
not provided [RCV000598732] |
Chr1:152314408..152314409 [GRCh38] Chr1:152286884..152286885 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.4420C>T (p.Arg1474Ter) |
single nucleotide variant |
not provided [RCV000578668] |
Chr1:152310466 [GRCh38] Chr1:152282942 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.8911A>T (p.Arg2971Ter) |
single nucleotide variant |
not provided [RCV000578721] |
Chr1:152305975 [GRCh38] Chr1:152278451 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.660del (p.Gly221fs) |
deletion |
not provided [RCV000599043] |
Chr1:152314226 [GRCh38] Chr1:152286702 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.7098_7101del (p.Ser2366fs) |
deletion |
not provided [RCV000598718] |
Chr1:152307785..152307788 [GRCh38] Chr1:152280261..152280264 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3250_3251delCA |
microsatellite |
not provided [RCV000599057] |
Chr1:152311635..152311636 [GRCh38] Chr1:152284111..152284112 [GRCh37] Chr1:1q21.3 |
likely pathogenic |
NM_002016.1(FLG):c.3427G>T (p.Gly1143Ter) |
single nucleotide variant |
not provided [RCV000521438] |
Chr1:152311459 [GRCh38] Chr1:152283935 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5690del (p.His1897fs) |
deletion |
not provided [RCV000599268] |
Chr1:152309196 [GRCh38] Chr1:152281672 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.9280del (p.Ala3094fs) |
deletion |
not provided [RCV000599358] |
Chr1:152305606 [GRCh38] Chr1:152278082 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5186C>G (p.Ser1729Ter) |
single nucleotide variant |
not provided [RCV000599553] |
Chr1:152309700 [GRCh38] Chr1:152282176 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.10558C>T (p.Gln3520Ter) |
single nucleotide variant |
not provided [RCV000599437] |
Chr1:152304328 [GRCh38] Chr1:152276804 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.745dup (p.Ser249fs) |
duplication |
not provided [RCV000599537] |
Chr1:152314140..152314141 [GRCh38] Chr1:152286616..152286617 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.1826C>A (p.Ser609Ter) |
single nucleotide variant |
not provided [RCV000412715] |
Chr1:152313060 [GRCh38] Chr1:152285536 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.11528C>G (p.Ser3843Ter) |
single nucleotide variant |
not provided [RCV000412869] |
Chr1:152303358 [GRCh38] Chr1:152275834 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.4279G>A (p.Ala1427Thr) |
single nucleotide variant |
Ichthyosis vulgaris [RCV000415319] |
Chr1:152310607 [GRCh38] Chr1:152283083 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_002016.1(FLG):c.4004_4005delAG |
microsatellite |
not provided [RCV000414010] |
Chr1:152310881..152310882 [GRCh38] Chr1:152283357..152283358 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5230C>T (p.Gln1744Ter) |
single nucleotide variant |
not provided [RCV000414080] |
Chr1:152309656 [GRCh38] Chr1:152282132 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3757G>T (p.Gly1253Ter) |
single nucleotide variant |
not provided [RCV000414116] |
Chr1:152311129 [GRCh38] Chr1:152283605 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.2263G>A (p.Glu755Lys) |
single nucleotide variant |
not specified [RCV000427758] |
Chr1:152312623 [GRCh38] Chr1:152285099 [GRCh37] Chr1:1q21.3 |
benign |
NM_002016.1(FLG):c.7249C>T (p.Gln2417Ter) |
single nucleotide variant |
not provided [RCV000434890] |
Chr1:152307637 [GRCh38] Chr1:152280113 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.11851dup (p.His3951fs) |
duplication |
not provided [RCV000480909] |
Chr1:152303034..152303035 [GRCh38] Chr1:152275510..152275511 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3254_3257delCAGT |
microsatellite |
not provided [RCV000482142] |
Chr1:152311629..152311632 [GRCh38] Chr1:152284105..152284108 [GRCh37] Chr1:1q21.3 |
likely pathogenic |
NM_002016.1(FLG):c.557dup (p.Asn186fs) |
duplication |
not provided [RCV000482898] |
Chr1:152314328..152314329 [GRCh38] Chr1:152286804..152286805 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.899_903del (p.Asp300fs) |
deletion |
Ichthyosis vulgaris [RCV000477947] |
Chr1:152313983..152313987 [GRCh38] Chr1:152286459..152286463 [GRCh37] Chr1:1q21.3 |
likely pathogenic |
NM_002016.1(FLG):c.3551C>A (p.Ser1184Ter) |
single nucleotide variant |
not provided [RCV000483623] |
Chr1:152311335 [GRCh38] Chr1:152283811 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5392C>T (p.Arg1798Ter) |
single nucleotide variant |
not provided [RCV000484307] |
Chr1:152309494 [GRCh38] Chr1:152281970 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) |
deletion |
not provided [RCV000484342] |
Chr1:152307929..152307936 [GRCh38] Chr1:152280405..152280412 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3837del (p.Ser1280fs) |
deletion |
not provided [RCV000484364] |
Chr1:152311049 [GRCh38] Chr1:152283525 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.2906del (p.Asn969fs) |
deletion |
not provided [RCV000484378] |
Chr1:152311980 [GRCh38] Chr1:152284456 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(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 |
not specified [RCV000455475] |
Chr1:152310208 [GRCh38] Chr1:152282684 [GRCh37] Chr1:1q21.3 |
benign |
NM_002016.1(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 |
not specified [RCV000456001] |
Chr1:152311948 [GRCh38] Chr1:152284424 [GRCh37] Chr1:1q21.3 |
benign |
NM_002016.1(FLG):c.3702del (p.Ser1235fs) |
deletion |
not provided [RCV000479326] |
Chr1:152311184 [GRCh38] Chr1:152283660 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5930C>G (p.Ser1977Ter) |
single nucleotide variant |
not provided [RCV000486896] |
Chr1:152308956 [GRCh38] Chr1:152281432 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3321del (p.Gly1109fs) |
deletion |
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_002016.1(FLG):c.3892del (p.Ser1298fs) |
deletion |
not provided [RCV000498647] |
Chr1:152310994 [GRCh38] Chr1:152283470 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(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_002016.1(FLG):c.4785_4788del (p.Ser1595fs) |
deletion |
not provided [RCV000498102] |
Chr1:152310098..152310101 [GRCh38] Chr1:152282574..152282577 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.5945_5946delCA |
microsatellite |
not provided [RCV000493525] |
Chr1:152308940..152308941 [GRCh38] Chr1:152281416..152281417 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.11635C>T (p.Arg3879Ter) |
single nucleotide variant |
not provided [RCV000493665] |
Chr1:152303251 [GRCh38] Chr1:152275727 [GRCh37] Chr1:1q21.3 |
likely pathogenic |
NM_002016.1(FLG):c.1248dup (p.Ser417fs) |
duplication |
not provided [RCV000494413] |
Chr1:152313637..152313638 [GRCh38] Chr1:152286113..152286114 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.10969C>T (p.Arg3657Ter) |
single nucleotide variant |
not provided [RCV000493067] |
Chr1:152303917 [GRCh38] Chr1:152276393 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.7031C>G (p.Ser2344Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000622390]|not provided [RCV000760852] |
Chr1:152307855 [GRCh38] Chr1:152280331 [GRCh37] Chr1:1q21.3 |
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_002016.1(FLG):c.544A>T (p.Lys182Ter) |
single nucleotide variant |
Congenital cerebellar hypoplasia [RCV000626817] |
Chr1:152314342 [GRCh38] Chr1:152286818 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(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_002016.1(FLG):c.3510del (p.Ser1171fs) |
deletion |
not provided [RCV000522317] |
Chr1:152311376 [GRCh38] Chr1:152283852 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3010C>T (p.Gln1004Ter) |
single nucleotide variant |
not provided [RCV000578661] |
Chr1:152311876 [GRCh38] Chr1:152284352 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(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_002016.1(FLG):c.6682G>T (p.Gly2228Ter) |
single nucleotide variant |
not provided [RCV000627346] |
Chr1:152308204 [GRCh38] Chr1:152280680 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(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_002016.1(FLG):c.7358C>G (p.Ser2453Ter) |
single nucleotide variant |
not provided [RCV000658146] |
Chr1:152307528 [GRCh38] Chr1:152280004 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.8117C>G (p.Ser2706Ter) |
single nucleotide variant |
not provided [RCV000657650] |
Chr1:152306769 [GRCh38] Chr1:152279245 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.7837A>T (p.Arg2613Ter) |
single nucleotide variant |
not provided [RCV000657776] |
Chr1:152307049 [GRCh38] Chr1:152279525 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.6032_6034del (p.Leu2011del) |
deletion |
Ichthyosis vulgaris [RCV000714803] |
Chr1:152308852..152308854 [GRCh38] Chr1:152281328..152281330 [GRCh37] Chr1:1q21.3 |
uncertain significance |
NM_002016.1(FLG):c.4544C>A (p.Ser1515Ter) |
single nucleotide variant |
not provided [RCV000677429] |
Chr1:152310342 [GRCh38] Chr1:152282818 [GRCh37] Chr1:1q21.3 |
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_002016.1(FLG):c.8486G>A (p.Arg2829His) |
single nucleotide variant |
not specified [RCV000736091] |
Chr1:152306400 [GRCh38] Chr1:152278876 [GRCh37] Chr1:1q21.3 |
likely 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_002016.1(FLG):c.6276C>A (p.Tyr2092Ter) |
single nucleotide variant |
not provided [RCV000760881] |
Chr1:152308610 [GRCh38] Chr1:152281086 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.11575C>T (p.Gln3859Ter) |
single nucleotide variant |
not provided [RCV000760338] |
Chr1:152303311 [GRCh38] Chr1:152275787 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3418C>T (p.Arg1140Ter) |
single nucleotide variant |
not provided [RCV000760422] |
Chr1:152311468 [GRCh38] Chr1:152283944 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3059C>G (p.Ser1020Ter) |
single nucleotide variant |
not provided [RCV000760537] |
Chr1:152311827 [GRCh38] Chr1:152284303 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(FLG):c.3317G>A (p.Trp1106Ter) |
single nucleotide variant |
not provided [RCV000760609] |
Chr1:152311569 [GRCh38] Chr1:152284045 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.1(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 |
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_002016.1(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 |
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 |
uncertain significance |
NM_002016.2(FLG):c.1432C>T (p.Pro478Ser) |
single nucleotide variant |
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_002016.1(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.1830del (p.Arg612fs) |
deletion |
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 |
not provided [RCV001009012] |
Chr1:152310073..152310074 [GRCh38] Chr1:152282549..152282550 [GRCh37] Chr1:1q21.3 |
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 |
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.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 |
not provided [RCV001008674] |
Chr1:152305801 [GRCh38] Chr1:152278277 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.2(FLG):c.3554T>C (p.Val1185Ala) |
single nucleotide variant |
not provided [RCV000994102] |
Chr1:152311332 [GRCh38] Chr1:152283808 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_002016.2(FLG):c.754G>A (p.Glu252Lys) |
single nucleotide variant |
not provided [RCV000994103] |
Chr1:152314132 [GRCh38] Chr1:152286608 [GRCh37] Chr1:1q21.3 |
likely benign |
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) |
deletion |
not provided [RCV001008117] |
Chr1:152311661..152311664 [GRCh38] Chr1:152284137..152284140 [GRCh37] Chr1:1q21.3 |
pathogenic |
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) |
single nucleotide variant |
not provided [RCV001090407] |
Chr1:152304631 [GRCh38] Chr1:152277107 [GRCh37] Chr1:1q21.3 |
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.9815_9818del (p.Arg3272fs) |
deletion |
not provided [RCV001008323] |
Chr1:152305068..152305071 [GRCh38] Chr1:152277544..152277547 [GRCh37] Chr1:1q21.3 |
pathogenic |
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.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.5476G>T (p.Gly1826Ter) |
single nucleotide variant |
Ichthyosis vulgaris [RCV001262285] |
Chr1:152309410 [GRCh38] Chr1:152281886 [GRCh37] Chr1:1q21.3 |
uncertain significance |