FLG-AS1 (FLG antisense RNA 1) - Rat Genome Database

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Gene: FLG-AS1 (FLG antisense RNA 1) Homo sapiens
Analyze
Symbol: FLG-AS1 (Ensembl: CCDST)
Name: FLG antisense RNA 1 (Ensembl:cervical cancer associated DHX9 suppressive transcript)
RGD ID: 6480161
HGNC Page HGNC:55988
Description: ASSOCIATED WITH Aganglionic megacolon; Atopic dermatitis; atopic dermatitis; INTERACTS WITH 2-hydroxypropanoic acid; benzo[a]pyrene; rac-lactic acid
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: CCDST; cervical cancer associated DHX9 suppressive transcript; LINC02962; lnc-CCDST; LOC112268240; long intergenic non-protein coding RNA 2962; RP1-14N1.2; uncharacterized LOC112268240
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381152,189,303 - 152,366,692 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1152,168,125 - 152,445,456 (+)EnsemblGRCh38hg38GRCh38
GRCh371152,285,935 - 152,339,168 (+)NCBIGRCh37GRCh37hg19GRCh37
Celera1125,396,923 - 125,450,107 (+)NCBICelera
Cytogenetic Map1q21.3NCBI
HuRef1123,659,645 - 123,712,671 (+)NCBIHuRef
CHM1_11153,681,286 - 153,734,519 (+)NCBICHM1_1
T2T-CHM13v2.01151,312,870 - 151,503,240 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:20691247   PMID:21666691   PMID:23568457   PMID:30518908   PMID:33146560   PMID:35461393  


Genomics

Variants

.
Variants in FLG-AS1
1172 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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_001014342.2(FLG2):c.6553G>A (p.Asp2185Asn) single nucleotide variant Malignant melanoma [RCV000059884] Chr1:152351233 [GRCh38]
Chr1:152323709 [GRCh37]
Chr1:150590333 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.6455G>A (p.Gly2152Glu) single nucleotide variant Malignant melanoma [RCV000059885] Chr1:152351331 [GRCh38]
Chr1:152323807 [GRCh37]
Chr1:150590431 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.1976G>A (p.Gly659Glu) single nucleotide variant Malignant melanoma [RCV000059886] Chr1:152355810 [GRCh38]
Chr1:152328286 [GRCh37]
Chr1:150594910 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.1774G>A (p.Gly592Ser) single nucleotide variant Malignant melanoma [RCV000059887] Chr1:152356012 [GRCh38]
Chr1:152328488 [GRCh37]
Chr1:150595112 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.1618C>T (p.Gln540Ter) single nucleotide variant Malignant melanoma [RCV000059888] Chr1:152356168 [GRCh38]
Chr1:152328644 [GRCh37]
Chr1:150595268 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.5853G>A (p.Arg1951=) single nucleotide variant Malignant melanoma [RCV000064159] Chr1:152351933 [GRCh38]
Chr1:152324409 [GRCh37]
Chr1:150591033 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.5044G>A (p.Gly1682Arg) single nucleotide variant Malignant melanoma [RCV000064160] Chr1:152352742 [GRCh38]
Chr1:152325218 [GRCh37]
Chr1:150591842 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.4675G>A (p.Glu1559Lys) single nucleotide variant Malignant melanoma [RCV000064161] Chr1:152353111 [GRCh38]
Chr1:152325587 [GRCh37]
Chr1:150592211 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.4364G>A (p.Gly1455Glu) single nucleotide variant Malignant melanoma [RCV000064162] Chr1:152353422 [GRCh38]
Chr1:152325898 [GRCh37]
Chr1:150592522 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.4018T>C (p.Ser1340Pro) single nucleotide variant Malignant melanoma [RCV000064163] Chr1:152353768 [GRCh38]
Chr1:152326244 [GRCh37]
Chr1:150592868 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.3038G>A (p.Gly1013Asp) single nucleotide variant Malignant melanoma [RCV000064164] Chr1:152354748 [GRCh38]
Chr1:152327224 [GRCh37]
Chr1:150593848 [NCBI36]
Chr1:1q21.3		 not provided
NM_001014342.2(FLG2):c.920G>A (p.Gly307Glu) single nucleotide variant Malignant melanoma [RCV000064165] Chr1:152356866 [GRCh38]
Chr1:152329342 [GRCh37]
Chr1:150595966 [NCBI36]
Chr1:1q21.3		 not provided
GRCh38/hg38 1q21.3(chr1:152365299-152618044)x3 copy number gain See cases [RCV000138737] Chr1:152365299..152618044 [GRCh38]
Chr1:152337775..152590520 [GRCh37]
Chr1:150604399..150857144 [NCBI36]
Chr1:1q21.3		 likely benign
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.94G>T (p.Glu32Ter) single nucleotide variant FLG-related condition [RCV003909904]|FLG-related disorders [RCV001270781]|Ichthyosis vulgaris [RCV000709724]|not provided [RCV000300225] Chr1:152315363 [GRCh38]
Chr1:152287839 [GRCh37]
Chr1:1q21.3		 pathogenic|likely 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.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.1297_1298del (p.Asp433fs) deletion FLG-related condition [RCV003403135]|not provided [RCV000490026] Chr1:152313588..152313589 [GRCh38]
Chr1:152286064..152286065 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic
NM_001014342.3(FLG2):c.2361G>T (p.Gly787=) single nucleotide variant not provided [RCV002292740] Chr1:152355425 [GRCh38]
Chr1:152327901 [GRCh37]
Chr1:1q21.3		 likely benign
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
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.477dup (p.Glu160fs) duplication not provided [RCV000598732] Chr1:152314408..152314409 [GRCh38]
Chr1:152286884..152286885 [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.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.527dup (p.Asn176fs) duplication not provided [RCV003221617] Chr1:152314358..152314359 [GRCh38]
Chr1:152286834..152286835 [GRCh37]
Chr1:1q21.3		 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.1248dup (p.Ser417fs) duplication not provided [RCV000494413] Chr1:152313637..152313638 [GRCh38]
Chr1:152286113..152286114 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.1065T>A (p.Tyr355Ter) single nucleotide variant Peeling skin syndrome 6 [RCV000677213] Chr1:152356721 [GRCh38]
Chr1:152329197 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.5479G>A (p.Gly1827Ser) single nucleotide variant not specified [RCV004308858] Chr1:152352307 [GRCh38]
Chr1:152324783 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1044G>C (p.Gln348His) single nucleotide variant not specified [RCV004301270] Chr1:152356742 [GRCh38]
Chr1:152329218 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1327G>A (p.Glu443Lys) single nucleotide variant not specified [RCV004332803] Chr1:152356459 [GRCh38]
Chr1:152328935 [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.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.1195G>C (p.Ala399Pro) single nucleotide variant Inborn genetic diseases [RCV003254414] Chr1:152313691 [GRCh38]
Chr1:152286167 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6679G>A (p.Gly2227Arg) single nucleotide variant not specified [RCV004299075] Chr1:152351107 [GRCh38]
Chr1:152323583 [GRCh37]
Chr1:1q21.3		 likely benign
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_001014342.3(FLG2):c.632C>G (p.Ser211Ter) single nucleotide variant Peeling skin syndrome 6 [RCV000677212]|not provided [RCV003992368] Chr1:152357154 [GRCh38]
Chr1:152329630 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_002016.2(FLG):c.284C>T (p.Pro95Leu) single nucleotide variant FLG-related condition [RCV003956294]|not provided [RCV001609041] Chr1:152314602 [GRCh38]
Chr1:152287078 [GRCh37]
Chr1:1q21.3		 benign
NM_002016.2(FLG):c.139-119del deletion not provided [RCV001709159] Chr1:152314866 [GRCh38]
Chr1:152287342 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.2760T>C (p.Ser920=) single nucleotide variant not provided [RCV001681631] Chr1:152355026 [GRCh38]
Chr1:152327502 [GRCh37]
Chr1:1q21.3		 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_001014342.3(FLG2):c.3557del (p.Gly1185_Ser1186insTer) deletion not provided [RCV000994105] Chr1:152354229 [GRCh38]
Chr1:152326705 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NM_001014342.3(FLG2):c.3712del (p.Thr1238fs) deletion not provided [RCV000994104] Chr1:152354074 [GRCh38]
Chr1:152326550 [GRCh37]
Chr1:1q21.3		 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_001014342.3(FLG2):c.3850G>C (p.Val1284Leu) single nucleotide variant not specified [RCV004304300] Chr1:152353936 [GRCh38]
Chr1:152326412 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.4108C>T (p.His1370Tyr) single nucleotide variant not specified [RCV004289232] Chr1:152353678 [GRCh38]
Chr1:152326154 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1969C>G (p.Gln657Glu) single nucleotide variant not specified [RCV004304132] Chr1:152355817 [GRCh38]
Chr1:152328293 [GRCh37]
Chr1:1q21.3		 uncertain significance
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
NM_001014342.3(FLG2):c.4783C>T (p.Arg1595Ter) single nucleotide variant not provided [RCV003231972] Chr1:152353003 [GRCh38]
Chr1:152325479 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6349G>T (p.Val2117Phe) single nucleotide variant not specified [RCV004287747] Chr1:152351437 [GRCh38]
Chr1:152323913 [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.1359C>T (p.Ser453=) single nucleotide variant not provided [RCV001549580] Chr1:152313527 [GRCh38]
Chr1:152286003 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.6163G>A (p.Gly2055Arg) single nucleotide variant not provided [RCV001674333] Chr1:152351623 [GRCh38]
Chr1:152324099 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.3746A>G (p.His1249Arg) single nucleotide variant not provided [RCV001649473] Chr1:152354040 [GRCh38]
Chr1:152326516 [GRCh37]
Chr1:1q21.3		 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_001014342.3(FLG2):c.1851T>C (p.Ser617=) single nucleotide variant not provided [RCV001540059] Chr1:152355935 [GRCh38]
Chr1:152328411 [GRCh37]
Chr1:1q21.3		 benign
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_001014342.3(FLG2):c.3175G>A (p.Gly1059Arg) single nucleotide variant not specified [RCV004311341] Chr1:152354611 [GRCh38]
Chr1:152327087 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_002016.2(FLG):c.149A>G (p.Asp50Gly) single nucleotide variant FLG-related condition [RCV003956299]|not provided [RCV001618000] Chr1:152314737 [GRCh38]
Chr1:152287213 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.138+227C>T single nucleotide variant not provided [RCV001639657] Chr1:152358520 [GRCh38]
Chr1:152330996 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.2793G>A (p.Gln931=) single nucleotide variant not provided [RCV001674966] Chr1:152354993 [GRCh38]
Chr1:152327469 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.4806C>T (p.Ala1602=) single nucleotide variant not provided [RCV001619549] Chr1:152352980 [GRCh38]
Chr1:152325456 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.5865C>T (p.His1955=) single nucleotide variant not provided [RCV001637247] Chr1:152351921 [GRCh38]
Chr1:152324397 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.504A>T (p.Leu168Phe) single nucleotide variant not provided [RCV001655057] Chr1:152357282 [GRCh38]
Chr1:152329758 [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.1330G>A (p.Gly444Arg) single nucleotide variant Ichthyosis vulgaris [RCV003339705]|not provided [RCV001657079] Chr1:152313556 [GRCh38]
Chr1:152286032 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.-22-212A>G single nucleotide variant not provided [RCV001654369] Chr1:152359118 [GRCh38]
Chr1:152331594 [GRCh37]
Chr1:1q21.3		 benign
NM_002016.2(FLG):c.1255G>A (p.Gly419Ser) single nucleotide variant FLG-related condition [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_001014342.3(FLG2):c.7130C>A (p.Ser2377Ter) single nucleotide variant not provided [RCV001710784] Chr1:152350656 [GRCh38]
Chr1:152323132 [GRCh37]
Chr1:1q21.3		 benign
NM_002016.2(FLG):c.1236T>C (p.Arg412=) single nucleotide variant FLG-related condition [RCV003975870]|not provided [RCV001666836]|not specified [RCV001724381] Chr1:152313650 [GRCh38]
Chr1:152286126 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.-22-151A>C single nucleotide variant not provided [RCV001616360] Chr1:152359057 [GRCh38]
Chr1:152331533 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.827G>A (p.Arg276Gln) single nucleotide variant not provided [RCV001645082] Chr1:152356959 [GRCh38]
Chr1:152329435 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.893G>C (p.Cys298Ser) single nucleotide variant not provided [RCV001652519] Chr1:152356893 [GRCh38]
Chr1:152329369 [GRCh37]
Chr1:1q21.3		 benign
NM_002016.2(FLG):c.63del (p.Asp22fs) deletion not provided [RCV001008610] Chr1:152315394 [GRCh38]
Chr1:152287870 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.2595_2825del (p.Ser869_Thr945del) deletion Peeling skin syndrome 6 [RCV001262738] Chr1:152354961..152355191 [GRCh38]
Chr1:152327437..152327667 [GRCh37]
Chr1:1q21.3		 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_001014342.3(FLG2):c.6852_6855del (p.Arg2284fs) deletion Peeling skin syndrome 6 [RCV001330123] Chr1:152350931..152350934 [GRCh38]
Chr1:152323407..152323410 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.3101_3104del (p.Gln1034fs) deletion Peeling skin syndrome 6 [RCV003150891] Chr1:152354682..152354685 [GRCh38]
Chr1:152327158..152327161 [GRCh37]
Chr1:1q21.3		 pathogenic|uncertain significance
NM_001014342.3(FLG2):c.6711T>G (p.Tyr2237Ter) single nucleotide variant Peeling skin syndrome 6 [RCV001294186] Chr1:152351075 [GRCh38]
Chr1:152323551 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.3939_3940dup (p.Thr1314fs) duplication Peeling skin syndrome 6 [RCV001333640] Chr1:152353845..152353846 [GRCh38]
Chr1:152326321..152326322 [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.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_001014342.3(FLG2):c.4564del (p.His1522fs) deletion Peeling skin syndrome 6 [RCV001330122] Chr1:152353222 [GRCh38]
Chr1:152325698 [GRCh37]
Chr1:1q21.3		 pathogenic
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
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_001014342.3(FLG2):c.3419G>A (p.Gly1140Asp) single nucleotide variant not provided [RCV001534206] Chr1:152354367 [GRCh38]
Chr1:152326843 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.121C>T (p.Leu41Phe) single nucleotide variant not provided [RCV001650648] Chr1:152358764 [GRCh38]
Chr1:152331240 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.4530C>T (p.His1510=) single nucleotide variant not provided [RCV001693527] Chr1:152353256 [GRCh38]
Chr1:152325732 [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.1378G>T (p.Glu460Ter) single nucleotide variant not provided [RCV001730293] Chr1:152313508 [GRCh38]
Chr1:152285984 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.2014G>A (p.Val672Ile) single nucleotide variant not specified [RCV004311824] Chr1:152355772 [GRCh38]
Chr1:152328248 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.482_485del (p.Arg161fs) microsatellite not provided [RCV001837672] Chr1:152314401..152314404 [GRCh38]
Chr1:152286877..152286880 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.1060G>T (p.Gly354Ter) single nucleotide variant Peeling skin syndrome 6 [RCV001781120] Chr1:152356726 [GRCh38]
Chr1:152329202 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NM_001014342.3(FLG2):c.1815C>T (p.Gly605=) single nucleotide variant not provided [RCV002211103] Chr1:152355971 [GRCh38]
Chr1:152328447 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.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.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.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.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.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.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.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.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.160G>C (p.Val54Leu) single nucleotide variant Inborn genetic diseases [RCV003304701] Chr1:152314726 [GRCh38]
Chr1:152287202 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5882G>T (p.Ser1961Ile) single nucleotide variant not specified [RCV004317560] Chr1:152351904 [GRCh38]
Chr1:152324380 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.430C>T (p.Pro144Ser) single nucleotide variant Inborn genetic diseases [RCV002771671] Chr1:152314456 [GRCh38]
Chr1:152286932 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3440G>T (p.Arg1147Ile) single nucleotide variant not specified [RCV004117124] Chr1:152354346 [GRCh38]
Chr1:152326822 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1208G>A (p.Arg403His) single nucleotide variant not specified [RCV004218483] Chr1:152356578 [GRCh38]
Chr1:152329054 [GRCh37]
Chr1:1q21.3		 likely benign
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_001014342.3(FLG2):c.5983G>A (p.Gly1995Arg) single nucleotide variant not specified [RCV004149122] Chr1:152351803 [GRCh38]
Chr1:152324279 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.5288T>G (p.Val1763Gly) single nucleotide variant not specified [RCV004090139] Chr1:152352498 [GRCh38]
Chr1:152324974 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2086C>A (p.His696Asn) single nucleotide variant not specified [RCV004092528] Chr1:152355700 [GRCh38]
Chr1:152328176 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3749G>A (p.Ser1250Asn) single nucleotide variant not specified [RCV004094748] Chr1:152354037 [GRCh38]
Chr1:152326513 [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_001014342.3(FLG2):c.2465A>G (p.Gln822Arg) single nucleotide variant not specified [RCV004133110] Chr1:152355321 [GRCh38]
Chr1:152327797 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6665C>T (p.Thr2222Ile) single nucleotide variant not specified [RCV004223072] Chr1:152351121 [GRCh38]
Chr1:152323597 [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_001014342.3(FLG2):c.6143G>A (p.Gly2048Glu) single nucleotide variant not specified [RCV004086734] Chr1:152351643 [GRCh38]
Chr1:152324119 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2899G>A (p.Gly967Ser) single nucleotide variant not specified [RCV004209883] Chr1:152354887 [GRCh38]
Chr1:152327363 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5135T>C (p.Leu1712Ser) single nucleotide variant not specified [RCV004207018] Chr1:152352651 [GRCh38]
Chr1:152325127 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3959A>T (p.Asp1320Val) single nucleotide variant not specified [RCV004079439] Chr1:152353827 [GRCh38]
Chr1:152326303 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2155T>C (p.Phe719Leu) single nucleotide variant not specified [RCV004083215] Chr1:152355631 [GRCh38]
Chr1:152328107 [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_001014342.3(FLG2):c.4691C>T (p.Thr1564Ile) single nucleotide variant not specified [RCV004215350] Chr1:152353095 [GRCh38]
Chr1:152325571 [GRCh37]
Chr1:1q21.3		 uncertain significance
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_001014342.3(FLG2):c.1521G>C (p.Gln507His) single nucleotide variant not specified [RCV004225490] Chr1:152356265 [GRCh38]
Chr1:152328741 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6455G>T (p.Gly2152Val) single nucleotide variant not specified [RCV004201706] Chr1:152351331 [GRCh38]
Chr1:152323807 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3660G>C (p.Gln1220His) single nucleotide variant not specified [RCV004098738] Chr1:152354126 [GRCh38]
Chr1:152326602 [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_001014342.3(FLG2):c.2774A>G (p.His925Arg) single nucleotide variant not specified [RCV004240367] Chr1:152355012 [GRCh38]
Chr1:152327488 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5798G>A (p.Gly1933Asp) single nucleotide variant not specified [RCV004242213] Chr1:152351988 [GRCh38]
Chr1:152324464 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5519T>C (p.Val1840Ala) single nucleotide variant not specified [RCV004232168] Chr1:152352267 [GRCh38]
Chr1:152324743 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2641T>C (p.Tyr881His) single nucleotide variant not specified [RCV004077519] Chr1:152355145 [GRCh38]
Chr1:152327621 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5333C>G (p.Thr1778Ser) single nucleotide variant not specified [RCV004179650] Chr1:152352453 [GRCh38]
Chr1:152324929 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3777G>C (p.Gln1259His) single nucleotide variant not provided [RCV003883948]|not specified [RCV004234559] Chr1:152354009 [GRCh38]
Chr1:152326485 [GRCh37]
Chr1:1q21.3		 likely benign|uncertain significance
NM_001014342.3(FLG2):c.2437G>A (p.Gly813Ser) single nucleotide variant not specified [RCV004227097] Chr1:152355349 [GRCh38]
Chr1:152327825 [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_001014342.3(FLG2):c.5599C>A (p.Gln1867Lys) single nucleotide variant not specified [RCV004096738] Chr1:152352187 [GRCh38]
Chr1:152324663 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3215G>A (p.Arg1072His) single nucleotide variant not specified [RCV004234917] Chr1:152354571 [GRCh38]
Chr1:152327047 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.2251G>A (p.Gly751Ser) single nucleotide variant not specified [RCV004072624] Chr1:152355535 [GRCh38]
Chr1:152328011 [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_001014342.3(FLG2):c.5122T>C (p.Tyr1708His) single nucleotide variant not specified [RCV004194966] Chr1:152352664 [GRCh38]
Chr1:152325140 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.4595C>T (p.Ser1532Leu) single nucleotide variant not specified [RCV004203364] Chr1:152353191 [GRCh38]
Chr1:152325667 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3547G>T (p.Val1183Leu) single nucleotide variant not specified [RCV004181277] Chr1:152354239 [GRCh38]
Chr1:152326715 [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_001014342.3(FLG2):c.4411C>A (p.Gln1471Lys) single nucleotide variant not specified [RCV004194680] Chr1:152353375 [GRCh38]
Chr1:152325851 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2725G>T (p.Gly909Cys) single nucleotide variant not specified [RCV004210310] Chr1:152355061 [GRCh38]
Chr1:152327537 [GRCh37]
Chr1:1q21.3		 uncertain significance
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_001014342.3(FLG2):c.3239G>T (p.Gly1080Val) single nucleotide variant not specified [RCV004136055] Chr1:152354547 [GRCh38]
Chr1:152327023 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5693G>A (p.Gly1898Glu) single nucleotide variant not specified [RCV004224804] Chr1:152352093 [GRCh38]
Chr1:152324569 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5914T>A (p.Ser1972Thr) single nucleotide variant not provided [RCV003883931]|not specified [RCV004203743] Chr1:152351872 [GRCh38]
Chr1:152324348 [GRCh37]
Chr1:1q21.3		 likely benign|uncertain significance
NM_001014342.3(FLG2):c.494A>T (p.Gln165Leu) single nucleotide variant not specified [RCV004238941] Chr1:152357292 [GRCh38]
Chr1:152329768 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2789G>A (p.Ser930Asn) single nucleotide variant not specified [RCV004149668] Chr1:152354997 [GRCh38]
Chr1:152327473 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2477G>A (p.Gly826Asp) single nucleotide variant not specified [RCV004072205] Chr1:152355309 [GRCh38]
Chr1:152327785 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6818G>A (p.Gly2273Glu) single nucleotide variant not specified [RCV004079983] Chr1:152350968 [GRCh38]
Chr1:152323444 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.148G>A (p.Asp50Asn) single nucleotide variant not specified [RCV004162237] Chr1:152357638 [GRCh38]
Chr1:152330114 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2885G>A (p.Gly962Asp) single nucleotide variant not specified [RCV004228101] Chr1:152354901 [GRCh38]
Chr1:152327377 [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_001014342.3(FLG2):c.4382T>A (p.Val1461Asp) single nucleotide variant not specified [RCV004126154] Chr1:152353404 [GRCh38]
Chr1:152325880 [GRCh37]
Chr1:1q21.3		 uncertain significance
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_001014342.3(FLG2):c.722C>T (p.Ser241Leu) single nucleotide variant not specified [RCV004179035] Chr1:152357064 [GRCh38]
Chr1:152329540 [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_001014342.3(FLG2):c.1373C>G (p.Ser458Cys) single nucleotide variant not specified [RCV004165849] Chr1:152356413 [GRCh38]
Chr1:152328889 [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_001014342.3(FLG2):c.1936G>A (p.Gly646Arg) single nucleotide variant not specified [RCV004176077] Chr1:152355850 [GRCh38]
Chr1:152328326 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3923G>A (p.Arg1308His) single nucleotide variant not specified [RCV004203801] Chr1:152353863 [GRCh38]
Chr1:152326339 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.6098A>C (p.Tyr2033Ser) single nucleotide variant not specified [RCV004082836] Chr1:152351688 [GRCh38]
Chr1:152324164 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.5929G>A (p.Gly1977Ser) single nucleotide variant not specified [RCV004181270] Chr1:152351857 [GRCh38]
Chr1:152324333 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3333G>T (p.Gln1111His) single nucleotide variant not specified [RCV004198701] Chr1:152354453 [GRCh38]
Chr1:152326929 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.4541C>T (p.Ser1514Leu) single nucleotide variant not specified [RCV004181280] Chr1:152353245 [GRCh38]
Chr1:152325721 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5830G>A (p.Gly1944Arg) single nucleotide variant not specified [RCV004209714] Chr1:152351956 [GRCh38]
Chr1:152324432 [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_001014342.3(FLG2):c.5275T>C (p.Ser1759Pro) single nucleotide variant not specified [RCV004217553] Chr1:152352511 [GRCh38]
Chr1:152324987 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.476C>G (p.Ser159Cys) single nucleotide variant not specified [RCV004160477] Chr1:152357310 [GRCh38]
Chr1:152329786 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.955T>A (p.Ser319Thr) single nucleotide variant not specified [RCV004195689] Chr1:152356831 [GRCh38]
Chr1:152329307 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.311G>A (p.Arg104His) single nucleotide variant not specified [RCV004075717] Chr1:152357475 [GRCh38]
Chr1:152329951 [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_001014342.3(FLG2):c.4496C>A (p.Ser1499Tyr) single nucleotide variant not specified [RCV004184679] Chr1:152353290 [GRCh38]
Chr1:152325766 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2813A>G (p.His938Arg) single nucleotide variant not specified [RCV004114719] Chr1:152354973 [GRCh38]
Chr1:152327449 [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.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.1046C>A (p.Ser349Tyr) single nucleotide variant Inborn genetic diseases [RCV002989313] Chr1:152313840 [GRCh38]
Chr1:152286316 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2975C>G (p.Ser992Cys) single nucleotide variant not specified [RCV004177412] Chr1:152354811 [GRCh38]
Chr1:152327287 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.732G>C (p.Leu244Phe) single nucleotide variant not specified [RCV004184680] Chr1:152357054 [GRCh38]
Chr1:152329530 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5852G>A (p.Arg1951Lys) single nucleotide variant not specified [RCV004114845] Chr1:152351934 [GRCh38]
Chr1:152324410 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3214C>T (p.Arg1072Cys) single nucleotide variant not specified [RCV004097219] Chr1:152354572 [GRCh38]
Chr1:152327048 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2837T>C (p.Phe946Ser) single nucleotide variant not specified [RCV004184708] Chr1:152354949 [GRCh38]
Chr1:152327425 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.3290G>T (p.Gly1097Val) single nucleotide variant not specified [RCV004122575] Chr1:152354496 [GRCh38]
Chr1:152326972 [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.557_560del (p.Asn186fs) deletion not provided [RCV003222631] Chr1:152314326..152314329 [GRCh38]
Chr1:152286802..152286805 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NM_001014342.3(FLG2):c.5642G>A (p.Ser1881Asn) single nucleotide variant not specified [RCV004250602] Chr1:152352144 [GRCh38]
Chr1:152324620 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6620G>C (p.Arg2207Pro) single nucleotide variant not specified [RCV004282725] Chr1:152351166 [GRCh38]
Chr1:152323642 [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_001014342.3(FLG2):c.1358G>A (p.Cys453Tyr) single nucleotide variant not specified [RCV004279898] Chr1:152356428 [GRCh38]
Chr1:152328904 [GRCh37]
Chr1:1q21.3		 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_001014342.3(FLG2):c.1790G>C (p.Gly597Ala) single nucleotide variant not specified [RCV004267183] Chr1:152355996 [GRCh38]
Chr1:152328472 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6938G>A (p.Gly2313Glu) single nucleotide variant not specified [RCV004324085] Chr1:152350848 [GRCh38]
Chr1:152323324 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5723A>G (p.His1908Arg) single nucleotide variant not specified [RCV004248264] Chr1:152352063 [GRCh38]
Chr1:152324539 [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.1117del (p.His373fs) deletion not provided [RCV003222630] Chr1:152313769 [GRCh38]
Chr1:152286245 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.5663T>C (p.Val1888Ala) single nucleotide variant not specified [RCV004263435] Chr1:152352123 [GRCh38]
Chr1:152324599 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3251G>A (p.Ser1084Asn) single nucleotide variant not specified [RCV004264229] Chr1:152354535 [GRCh38]
Chr1:152327011 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.2857G>C (p.Glu953Gln) single nucleotide variant FLG-related condition [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.2589G>C (p.Arg863Ser) single nucleotide variant FLG-related condition [RCV003921239]|not provided [RCV001573654] Chr1:152312297 [GRCh38]
Chr1:152284773 [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.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.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.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.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.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.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_001014342.3(FLG2):c.1676A>G (p.Tyr559Cys) single nucleotide variant not specified [RCV004297769] Chr1:152356110 [GRCh38]
Chr1:152328586 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1526G>T (p.Gly509Val) single nucleotide variant not specified [RCV004325842] Chr1:152356260 [GRCh38]
Chr1:152328736 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2050C>T (p.His684Tyr) single nucleotide variant not specified [RCV004326025] Chr1:152355736 [GRCh38]
Chr1:152328212 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2311G>A (p.Gly771Ser) single nucleotide variant not specified [RCV004323403] Chr1:152355475 [GRCh38]
Chr1:152327951 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.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.2280G>C (p.Gln760His) single nucleotide variant FLG-related condition [RCV003931274]|not provided [RCV001687078] Chr1:152312606 [GRCh38]
Chr1:152285082 [GRCh37]
Chr1:1q21.3		 benign
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.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.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.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.7595C>T (p.Ser2532Leu) single nucleotide variant not specified [RCV001825080] Chr1:152307291 [GRCh38]
Chr1:152279767 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6612C>T (p.Ala2204=) single nucleotide variant not provided [RCV003326757] Chr1:152351174 [GRCh38]
Chr1:152323650 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.2073A>G (p.Gly691=) single nucleotide variant FLG-related condition [RCV003948653]|not provided [RCV001644534] Chr1:152312813 [GRCh38]
Chr1:152285289 [GRCh37]
Chr1:1q21.3		 benign
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.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.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.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.2804G>C (p.Gly935Ala) single nucleotide variant FLG-related condition [RCV003980710]|not provided [RCV001573648] Chr1:152312082 [GRCh38]
Chr1:152284558 [GRCh37]
Chr1:1q21.3		 benign|likely 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_001009931.3(HRNR):c.3041A>G (p.His1014Arg) single nucleotide variant Epidermolysis bullosa simplex with nail dystrophy [RCV001089804]|not provided [RCV003405295] Chr1:152218588 [GRCh38]
Chr1:152191064 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.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.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.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.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.1494G>C (p.Glu498Asp) single nucleotide variant FLG-related condition [RCV003921212]|not provided [RCV001555503]|not specified [RCV001726584] Chr1:152313392 [GRCh38]
Chr1:152285868 [GRCh37]
Chr1:1q21.3		 benign|likely 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.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.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.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.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
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.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.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.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.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.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.12064A>T (p.Lys4022Ter) single nucleotide variant 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_002016.2(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.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.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.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.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.1485G>A (p.Ser495=) single nucleotide variant FLG-related condition [RCV003956292]|not provided [RCV001613919] Chr1:152313401 [GRCh38]
Chr1:152285877 [GRCh37]
Chr1:1q21.3		 benign
NM_002016.2(FLG):c.2072G>A (p.Gly691Glu) single nucleotide variant FLG-related condition [RCV003956295]|not provided [RCV001614211] Chr1:152312814 [GRCh38]
Chr1:152285290 [GRCh37]
Chr1:1q21.3		 benign
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.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.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.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.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.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.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.11048del (p.Gly3683fs) deletion Ichthyosis vulgaris [RCV001729983] Chr1:152303838 [GRCh38]
Chr1:152276314 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NM_001009931.3(HRNR):c.2226C>T (p.His742=) single nucleotide variant not provided [RCV001656715] Chr1:152219403 [GRCh38]
Chr1:152191879 [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.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.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.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.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.1555C>A (p.His519Asn) single nucleotide variant FLG-related condition [RCV003975893]|not provided [RCV001674554] Chr1:152313331 [GRCh38]
Chr1:152285807 [GRCh37]
Chr1:1q21.3		 benign
NM_001009931.3(HRNR):c.2396G>C (p.Ser799Thr) single nucleotide variant not provided [RCV001676795] Chr1:152219233 [GRCh38]
Chr1:152191709 [GRCh37]
Chr1:1q21.3		 benign
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.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.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.2540del (p.Gly846_Ser847insTer) deletion not provided [RCV002269453] Chr1:152312346 [GRCh38]
Chr1:152284822 [GRCh37]
Chr1:1q21.3		 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.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.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.12090G>A (p.Thr4030=) single nucleotide variant FLG-related condition [RCV003910908]|not provided [RCV001583152] Chr1:152302796 [GRCh38]
Chr1:152275272 [GRCh37]
Chr1:1q21.3		 benign|likely 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.5840G>A (p.Trp1947Ter) single nucleotide variant not provided [RCV001590217] Chr1:152309046 [GRCh38]
Chr1:152281522 [GRCh37]
Chr1:1q21.3		 pathogenic
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.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.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.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.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.5383G>T (p.Glu1795Ter) single nucleotide variant not provided [RCV001799941] Chr1:152309503 [GRCh38]
Chr1:152281979 [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.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.2786G>T (p.Gly929Val) single nucleotide variant FLG-related condition [RCV003980707]|not provided [RCV001573302] Chr1:152312100 [GRCh38]
Chr1:152284576 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.4829G>A (p.Arg1610Gln) single nucleotide variant Inborn genetic diseases [RCV002772055] Chr1:152310057 [GRCh38]
Chr1:152282533 [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.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.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.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.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.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.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.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.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.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.4573C>G (p.Gln1525Glu) single nucleotide variant Inborn genetic diseases [RCV002809869] Chr1:152310313 [GRCh38]
Chr1:152282789 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.*179C>T single nucleotide variant not provided [RCV001696409] Chr1:152302521 [GRCh38]
Chr1:152274997 [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.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.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.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.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
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.10926del (p.Ile3642fs) deletion Ichthyosis vulgaris [RCV002289221] Chr1:152303960 [GRCh38]
Chr1:152276436 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NM_002016.2(FLG):c.2263G>A (p.Glu755Lys) single nucleotide variant Ichthyosis vulgaris [RCV003338582]|not specified [RCV000427758] Chr1:152312623 [GRCh38]
Chr1:152285099 [GRCh37]
Chr1:1q21.3		 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.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.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.1741A>T (p.Thr581Ser) single nucleotide variant FLG-related condition [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.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.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.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.6834_6838del (p.Ser2279fs) deletion not provided [RCV002306300] Chr1:152308048..152308052 [GRCh38]
Chr1:152280524..152280528 [GRCh37]
Chr1:1q21.3		 pathogenic
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.2440A>G (p.Thr814Ala) single nucleotide variant Inborn genetic diseases [RCV003340448] Chr1:152312446 [GRCh38]
Chr1:152284922 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.5972C>T (p.Ala1991Val) single nucleotide variant Inborn genetic diseases [RCV002683149] Chr1:152308914 [GRCh38]
Chr1:152281390 [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.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.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.2057A>C (p.Gln686Pro) single nucleotide variant Inborn genetic diseases [RCV002980687] Chr1:152312829 [GRCh38]
Chr1:152285305 [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.2765T>G (p.Ile922Ser) single nucleotide variant FLG-related condition [RCV003973743]|Inborn genetic diseases [RCV002961258] Chr1:152312121 [GRCh38]
Chr1:152284597 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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.7339C>T (p.Arg2447Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV000763245]|Dermatitis, atopic, 2 [RCV001253562]|FLG-related disorders [RCV001795038]|Ichthyosis vulgaris [RCV000991155]|not provided [RCV000255655] Chr1:152307547 [GRCh38]
Chr1:152280023 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic
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.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.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.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.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.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.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.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.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.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.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.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.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.7467del (p.Ser2490fs) deletion not provided [RCV003319666] Chr1:152307419 [GRCh38]
Chr1:152279895 [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.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.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.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.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.5852G>T (p.Arg1951Ile) single nucleotide variant Inborn genetic diseases [RCV002972838] Chr1:152309034 [GRCh38]
Chr1:152281510 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6515C>A (p.Thr2172Lys) single nucleotide variant not specified [RCV004348563] Chr1:152351271 [GRCh38]
Chr1:152323747 [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.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.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.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.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.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.8311C>T (p.Gln2771Ter) single nucleotide variant FLG-related disorders [RCV003335967] Chr1:152306575 [GRCh38]
Chr1:152279051 [GRCh37]
Chr1:1q21.3		 likely pathogenic
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.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.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.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.9740C>A (p.Ser3247Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV001263482]|FLG-related disorders [RCV001796961]|Ichthyosis vulgaris [RCV000986413]|See cases [RCV002251948]|not provided [RCV000255466] Chr1:152305146 [GRCh38]
Chr1:152277622 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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
GRCh38/hg38 1q21.3(chr1:151858531-152298574)x1 copy number loss See cases [RCV000143761] Chr1:151858531..152298574 [GRCh38]
Chr1:151831007..152271050 [GRCh37]
Chr1:150097631..150537674 [NCBI36]
Chr1:1q21.3		 uncertain significance
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.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.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.7661C>G (p.Ser2554Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV002490380]|Dermatitis, atopic, 2, susceptibility to [RCV000017717]|Ichthyosis vulgaris [RCV000017716] Chr1:152307225 [GRCh38]
Chr1:152279701 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic|risk factor
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
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.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.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.2362C>T (p.Arg788Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV002525176]|FLG-related condition [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.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.9520A>G (p.Ser3174Gly) single nucleotide variant not provided [RCV000840924] Chr1:152305366 [GRCh38]
Chr1:152277842 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.1015G>A (p.Gly339Ser) single nucleotide variant not specified [RCV004348388] Chr1:152356771 [GRCh38]
Chr1:152329247 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.9645G>T (p.Val3215=) single nucleotide variant Ichthyosis vulgaris [RCV003339702]|not provided [RCV001642153] Chr1:152305241 [GRCh38]
Chr1:152277717 [GRCh37]
Chr1:1q21.3		 benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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 condition [RCV003407342]|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.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.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.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.2645C>G (p.Ala882Gly) single nucleotide variant Inborn genetic diseases [RCV003356463] Chr1:152312241 [GRCh38]
Chr1:152284717 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.7031C>G (p.Ser2344Ter) single nucleotide variant Ichthyosis vulgaris [RCV001783120]|Inborn genetic diseases [RCV000622390]|not provided [RCV000760852] Chr1:152307855 [GRCh38]
Chr1:152280331 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic
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.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.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.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.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.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.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.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.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.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.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.11537G>A (p.Gly3846Asp) single nucleotide variant Inborn genetic diseases [RCV003341238] Chr1:152303349 [GRCh38]
Chr1:152275825 [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.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.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.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.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.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.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.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.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.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.3222_3225del (p.Ser1074fs) deletion Ichthyosis vulgaris [RCV002249625]|not provided [RCV001008117] Chr1:152311661..152311664 [GRCh38]
Chr1:152284137..152284140 [GRCh37]
Chr1:1q21.3		 pathogenic
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.2713G>A (p.Gly905Ser) single nucleotide variant FLG-related condition [RCV003941024]|not provided [RCV001574041] Chr1:152312173 [GRCh38]
Chr1:152284649 [GRCh37]
Chr1:1q21.3		 likely benign
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.7564C>T (p.Gln2522Ter) single nucleotide variant not provided [RCV003330016] Chr1:152307322 [GRCh38]
Chr1:152279798 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_002016.2(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_002016.2(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.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.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.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.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.3424del (p.Gln1142fs) deletion Ichthyosis vulgaris [RCV003330305] Chr1:152311462 [GRCh38]
Chr1:152283938 [GRCh37]
Chr1:1q21.3		 likely pathogenic
NM_002016.2(FLG):c.7945del (p.Ser2649fs) deletion Ichthyosis vulgaris [RCV001328907]|not provided [RCV002464448] Chr1:152306941 [GRCh38]
Chr1:152279417 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic
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.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.10191del (p.Glu3397fs) deletion not provided [RCV000478664] Chr1:152304695 [GRCh38]
Chr1:152277171 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) single nucleotide variant Ichthyosis vulgaris [RCV002248656]|not provided [RCV000434890] Chr1:152307637 [GRCh38]
Chr1:152280113 [GRCh37]
Chr1:1q21.3		 pathogenic
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.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.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.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.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.11851dup (p.His3951fs) duplication not provided [RCV000480909] Chr1:152303034..152303035 [GRCh38]
Chr1:152275510..152275511 [GRCh37]
Chr1:1q21.3		 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.3837del (p.Ser1280fs) deletion not provided [RCV000484364] Chr1:152311049 [GRCh38]
Chr1:152283525 [GRCh37]
Chr1:1q21.3		 pathogenic
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.6032_6034del (p.Leu2011del) deletion Ichthyosis vulgaris [RCV000714803] Chr1:152308852..152308854 [GRCh38]
Chr1:152281328..152281330 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.82T>C (p.Leu28=) single nucleotide variant not provided [RCV000944485] Chr1:152223172 [GRCh38]
Chr1:152195648 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.7264G>T (p.Glu2422Ter) single nucleotide variant Ichthyosis vulgaris [RCV002248494]|not provided [RCV000255031] Chr1:152307622 [GRCh38]
Chr1:152280098 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001009931.3(HRNR):c.2139C>G (p.Tyr713Ter) single nucleotide variant not provided [RCV001090405] Chr1:152219490 [GRCh38]
Chr1:152191966 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.1963G>C (p.Gly655Arg) single nucleotide variant not provided [RCV001090406] Chr1:152219666 [GRCh38]
Chr1:152192142 [GRCh37]
Chr1:1q21.3		 uncertain significance
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
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.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.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.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
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.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.2906del (p.Asn969fs) deletion not provided [RCV000484378] Chr1:152311980 [GRCh38]
Chr1:152284456 [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.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.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.3510del (p.Ser1171fs) deletion not provided [RCV000522317] Chr1:152311376 [GRCh38]
Chr1:152283852 [GRCh37]
Chr1:1q21.3		 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.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.8885del (p.Gln2962fs) deletion Ichthyosis vulgaris [RCV000791075] Chr1:152306001 [GRCh38]
Chr1:152278477 [GRCh37]
Chr1:1q21.3		 likely pathogenic
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.5360del (p.Gly1787fs) deletion not provided [RCV003239104] Chr1:152309526 [GRCh38]
Chr1:152282002 [GRCh37]
Chr1:1q21.3		 pathogenic
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.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.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.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.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.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.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.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.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.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.2427G>A (p.Trp809Ter) single nucleotide variant FLG-related condition [RCV003417877]|FLG-related disorders [RCV003335300]|not provided [RCV000335790] Chr1:152312459 [GRCh38]
Chr1:152284935 [GRCh37]
Chr1:1q21.3		 pathogenic|likely pathogenic
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.2282_2285del (p.Ser761fs) microsatellite Dermatitis, atopic, 2 [RCV000191085]|Dermatitis, atopic, 2 [RCV000678372]|Dermatitis, atopic, 2, susceptibility to [RCV000017715]|Eczematoid dermatitis [RCV001270060]|FLG-Related Disorder [RCV000709934]|FLG-related condition [RCV003398531]|FLG-related disorders [RCV003335042]|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
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.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.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.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.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.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.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.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.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.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.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.6321dup (p.Ala2108fs) duplication not provided [RCV002469497] Chr1:152308564..152308565 [GRCh38]
Chr1:152281040..152281041 [GRCh37]
Chr1:1q21.3		 pathogenic
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
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.5718A>G (p.Ser1906=) single nucleotide variant not provided [RCV001550283] Chr1:152309168 [GRCh38]
Chr1:152281644 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.4700G>A (p.Arg1567Lys) single nucleotide variant not specified [RCV004361126] Chr1:152353086 [GRCh38]
Chr1:152325562 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.3438C>A (p.His1146Gln) single nucleotide variant Inborn genetic diseases [RCV003363360] Chr1:152311448 [GRCh38]
Chr1:152283924 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5609C>T (p.Ser1870Phe) single nucleotide variant not specified [RCV004336719] Chr1:152352177 [GRCh38]
Chr1:152324653 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3793A>G (p.Thr1265Ala) single nucleotide variant not specified [RCV004350841] Chr1:152353993 [GRCh38]
Chr1:152326469 [GRCh37]
Chr1:1q21.3		 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.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.8671G>T (p.Val2891Leu) single nucleotide variant Ichthyosis vulgaris [RCV001328909] Chr1:152306215 [GRCh38]
Chr1:152278691 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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_001014342.3(FLG2):c.5684C>T (p.Thr1895Ile) single nucleotide variant not specified [RCV004341130] Chr1:152352102 [GRCh38]
Chr1:152324578 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.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.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.8497G>T (p.Gly2833Ter) single nucleotide variant Ichthyosis vulgaris [RCV001328908] Chr1:152306389 [GRCh38]
Chr1:152278865 [GRCh37]
Chr1:1q21.3		 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.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.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.1739del (p.Gly580fs) deletion Ichthyosis vulgaris [RCV001542545] Chr1:152313147 [GRCh38]
Chr1:152285623 [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.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.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.5368C>T (p.Gln1790Ter) single nucleotide variant Ichthyosis vulgaris [RCV001333999] Chr1:152309518 [GRCh38]
Chr1:152281994 [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.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.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.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.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.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.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.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.11539C>T (p.Gln3847Ter) single nucleotide variant Ichthyosis vulgaris [RCV001336424] Chr1:152303347 [GRCh38]
Chr1:152275823 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.7620G>A (p.Gln2540=) single nucleotide variant not provided [RCV003456658] Chr1:152214009 [GRCh38]
Chr1:152186485 [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.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.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.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.4279G>A (p.Ala1427Thr) single nucleotide variant Ichthyosis vulgaris [RCV000415319]|not provided [RCV003884518] Chr1:152310607 [GRCh38]
Chr1:152283083 [GRCh37]
Chr1:1q21.3		 likely benign|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.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.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.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.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.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.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.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.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.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.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_001014342.3(FLG2):c.3008G>C (p.Gly1003Ala) single nucleotide variant not specified [RCV004352430] Chr1:152354778 [GRCh38]
Chr1:152327254 [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.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.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.6484G>A (p.Gly2162Arg) single nucleotide variant Inborn genetic diseases [RCV003348221] Chr1:152308402 [GRCh38]
Chr1:152280878 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.386A>G (p.Tyr129Cys) single nucleotide variant not specified [RCV004345874] Chr1:152357400 [GRCh38]
Chr1:152329876 [GRCh37]
Chr1:1q21.3		 uncertain significance
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_001014342.3(FLG2):c.5976G>C (p.Glu1992Asp) single nucleotide variant not specified [RCV004337051] Chr1:152351810 [GRCh38]
Chr1:152324286 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.5184G>C (p.Glu1728Asp) single nucleotide variant Inborn genetic diseases [RCV003349397] Chr1:152309702 [GRCh38]
Chr1:152282178 [GRCh37]
Chr1:1q21.3		 likely 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.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.3419G>A (p.Arg1140Gln) single nucleotide variant not provided [RCV001540830] Chr1:152311467 [GRCh38]
Chr1:152283943 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.791G>T (p.Gly264Val) single nucleotide variant not specified [RCV004359437] Chr1:152356995 [GRCh38]
Chr1:152329471 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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 not provided [RCV003441669] Chr1:152309087 [GRCh38]
Chr1:152281563 [GRCh37]
Chr1:1q21.3		 pathogenic
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_001009931.3(HRNR):c.8030G>C (p.Arg2677Pro) single nucleotide variant not provided [RCV003408890] Chr1:152213599 [GRCh38]
Chr1:152186075 [GRCh37]
Chr1:1q21.3		 benign
NM_001009931.3(HRNR):c.7599C>A (p.Gly2533=) single nucleotide variant not provided [RCV003408891] Chr1:152214030 [GRCh38]
Chr1:152186506 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.7284T>C (p.Ser2428=) single nucleotide variant not provided [RCV003408892] Chr1:152214345 [GRCh38]
Chr1:152186821 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.7002C>A (p.Gly2334=) single nucleotide variant not provided [RCV003408893] Chr1:152214627 [GRCh38]
Chr1:152187103 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6552C>T (p.Ser2184=) single nucleotide variant not provided [RCV003408894] Chr1:152215077 [GRCh38]
Chr1:152187553 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.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.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_001014342.3(FLG2):c.6644G>A (p.Gly2215Asp) single nucleotide variant not provided [RCV003409023] Chr1:152351142 [GRCh38]
Chr1:152323618 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.6633A>G (p.Ser2211=) single nucleotide variant not provided [RCV003409024] Chr1:152351153 [GRCh38]
Chr1:152323629 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.6260A>G (p.His2087Arg) single nucleotide variant not provided [RCV003409025] Chr1:152351526 [GRCh38]
Chr1:152324002 [GRCh37]
Chr1:1q21.3		 benign
NM_001014342.3(FLG2):c.6060C>A (p.Ser2020=) single nucleotide variant not provided [RCV003409026] Chr1:152351726 [GRCh38]
Chr1:152324202 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.6021T>A (p.His2007Gln) single nucleotide variant not provided [RCV003409027] Chr1:152351765 [GRCh38]
Chr1:152324241 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6020A>G (p.His2007Arg) single nucleotide variant not provided [RCV003409028] Chr1:152351766 [GRCh38]
Chr1:152324242 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.3846A>C (p.Ser1282=) single nucleotide variant not provided [RCV003409029] Chr1:152353940 [GRCh38]
Chr1:152326416 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.3510G>A (p.Glu1170=) single nucleotide variant not provided [RCV003409030] Chr1:152354276 [GRCh38]
Chr1:152326752 [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_001014342.3(FLG2):c.7086G>A (p.Gly2362=) single nucleotide variant not provided [RCV003456662] Chr1:152350700 [GRCh38]
Chr1:152323176 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.892T>C (p.Cys298Arg) single nucleotide variant not provided [RCV003456663] Chr1:152356894 [GRCh38]
Chr1:152329370 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6273T>C (p.Ser2091=) single nucleotide variant not provided [RCV003408895] Chr1:152215356 [GRCh38]
Chr1:152187832 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6264C>A (p.Ser2088=) single nucleotide variant not provided [RCV003408896] Chr1:152215365 [GRCh38]
Chr1:152187841 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.6057T>C (p.His2019=) single nucleotide variant not provided [RCV003408897] Chr1:152215572 [GRCh38]
Chr1:152188048 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.931C>A (p.Arg311=) single nucleotide variant not provided [RCV003408909] Chr1:152220698 [GRCh38]
Chr1:152193174 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.900G>A (p.Gly300=) single nucleotide variant not provided [RCV003408910] Chr1:152220729 [GRCh38]
Chr1:152193205 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.742G>A (p.Gly248Arg) single nucleotide variant not provided [RCV003408911] Chr1:152220887 [GRCh38]
Chr1:152193363 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001009931.3(HRNR):c.636C>T (p.Ser212=) single nucleotide variant not provided [RCV003408912] Chr1:152220993 [GRCh38]
Chr1:152193469 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.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_001009931.3(HRNR):c.3453T>C (p.Ser1151=) single nucleotide variant not provided [RCV003408898] Chr1:152218176 [GRCh38]
Chr1:152190652 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.3232C>T (p.Gln1078Ter) single nucleotide variant not provided [RCV003408899] Chr1:152218397 [GRCh38]
Chr1:152190873 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.3158G>A (p.Arg1053Gln) single nucleotide variant not provided [RCV003408900] Chr1:152218471 [GRCh38]
Chr1:152190947 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.3023G>C (p.Ser1008Thr) single nucleotide variant not provided [RCV003408901] Chr1:152218606 [GRCh38]
Chr1:152191082 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.2880C>T (p.His960=) single nucleotide variant not provided [RCV003408902] Chr1:152218749 [GRCh38]
Chr1:152191225 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.2447G>T (p.Gly816Val) single nucleotide variant not provided [RCV003408903] Chr1:152219182 [GRCh38]
Chr1:152191658 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.2325T>G (p.Ser775=) single nucleotide variant not provided [RCV003408904] Chr1:152219304 [GRCh38]
Chr1:152191780 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.1800C>T (p.His600=) single nucleotide variant not provided [RCV003408905] Chr1:152219829 [GRCh38]
Chr1:152192305 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.1634G>A (p.Arg545His) single nucleotide variant not provided [RCV003408906] Chr1:152219995 [GRCh38]
Chr1:152192471 [GRCh37]
Chr1:1q21.3		 benign
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_001014342.3(FLG2):c.585C>T (p.Asp195=) single nucleotide variant not provided [RCV003409031] Chr1:152357201 [GRCh38]
Chr1:152329677 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.1578A>G (p.Gln526=) single nucleotide variant not provided [RCV003408907] Chr1:152220051 [GRCh38]
Chr1:152192527 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.1116T>A (p.Ser372=) single nucleotide variant not provided [RCV003408908] Chr1:152220513 [GRCh38]
Chr1:152192989 [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 condition [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.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 not provided [RCV003408937] Chr1:152305051 [GRCh38]
Chr1:152277527 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.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.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.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.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.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.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.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.387A>G (p.Glu129=) single nucleotide variant FLG-related condition [RCV003967111] Chr1:152314499 [GRCh38]
Chr1:152286975 [GRCh37]
Chr1:1q21.3		 likely benign
NM_002016.2(FLG):c.585C>T (p.Asp195=) single nucleotide variant FLG-related condition [RCV003958969] Chr1:152314301 [GRCh38]
Chr1:152286777 [GRCh37]
Chr1:1q21.3		 likely benign
NM_002016.2(FLG):c.2225C>A (p.Ser742Tyr) single nucleotide variant FLG-related condition [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.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.8196T>G (p.Ser2732=) single nucleotide variant not provided [RCV003886089] Chr1:152306690 [GRCh38]
Chr1:152279166 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001009931.3(HRNR):c.7110C>T (p.His2370=) single nucleotide variant not provided [RCV003886286] Chr1:152214519 [GRCh38]
Chr1:152186995 [GRCh37]
Chr1:1q21.3		 likely benign
NM_002016.2(FLG):c.1791C>T (p.Ser597=) single nucleotide variant FLG-related condition [RCV003937028] Chr1:152313095 [GRCh38]
Chr1:152285571 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.5478C>T (p.His1826=) single nucleotide variant not provided [RCV003887612] Chr1:152352308 [GRCh38]
Chr1:152324784 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.72G>A (p.Glu24=) single nucleotide variant FLG2-related condition [RCV003957039] Chr1:152358813 [GRCh38]
Chr1:152331289 [GRCh37]
Chr1:1q21.3		 likely benign
NM_002016.2(FLG):c.2421T>C (p.His807=) single nucleotide variant FLG-related condition [RCV003894231] Chr1:152312465 [GRCh38]
Chr1:152284941 [GRCh37]
Chr1:1q21.3		 likely benign
NM_002016.2(FLG):c.2174C>T (p.Thr725Ile) single nucleotide variant FLG-related condition [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 condition [RCV003932032] Chr1:152312273 [GRCh38]
Chr1:152284749 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_002016.2(FLG):c.975G>A (p.Ala325=) single nucleotide variant FLG-related condition [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 condition [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 condition [RCV003966790] Chr1:152312153 [GRCh38]
Chr1:152284629 [GRCh37]
Chr1:1q21.3		 likely benign
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.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.2346G>A (p.Arg782=) single nucleotide variant FLG-related condition [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 condition [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.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.1080C>T (p.His360=) single nucleotide variant FLG-related condition [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_001014342.3(FLG2):c.955_958del (p.Ser319fs) microsatellite not provided [RCV003990488] Chr1:152356828..152356831 [GRCh38]
Chr1:152329304..152329307 [GRCh37]
Chr1:1q21.3		 likely pathogenic
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_001014342.3(FLG2):c.6424G>A (p.Gly2142Arg) single nucleotide variant not provided [RCV003886097] Chr1:152351362 [GRCh38]
Chr1:152323838 [GRCh37]
Chr1:1q21.3		 uncertain significance
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_001014342.3(FLG2):c.5022T>C (p.His1674=) single nucleotide variant not provided [RCV003886133] Chr1:152352764 [GRCh38]
Chr1:152325240 [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.8989G>A (p.Gly2997Arg) single nucleotide variant Inborn genetic diseases [RCV004389372] Chr1:152305897 [GRCh38]
Chr1:152278373 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2353C>A (p.Gln785Lys) single nucleotide variant not specified [RCV004389402] Chr1:152355433 [GRCh38]
Chr1:152327909 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5905C>T (p.His1969Tyr) single nucleotide variant not specified [RCV004389425] Chr1:152351881 [GRCh38]
Chr1:152324357 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.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.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.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.9747C>A (p.His3249Gln) single nucleotide variant Inborn genetic diseases [RCV004389388] Chr1:152305139 [GRCh38]
Chr1:152277615 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1636C>T (p.His546Tyr) single nucleotide variant not specified [RCV004389395] Chr1:152356150 [GRCh38]
Chr1:152328626 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2333G>C (p.Ser778Thr) single nucleotide variant not specified [RCV004389400] Chr1:152355453 [GRCh38]
Chr1:152327929 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.4669G>A (p.Gly1557Ser) single nucleotide variant not specified [RCV004389415] Chr1:152353117 [GRCh38]
Chr1:152325593 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.4856C>A (p.Thr1619Asn) single nucleotide variant not specified [RCV004389416] Chr1:152352930 [GRCh38]
Chr1:152325406 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5578T>C (p.Ser1860Pro) single nucleotide variant not specified [RCV004389421] Chr1:152352208 [GRCh38]
Chr1:152324684 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5939G>T (p.Gly1980Val) single nucleotide variant not specified [RCV004389426] Chr1:152351847 [GRCh38]
Chr1:152324323 [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.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.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_001014342.3(FLG2):c.109C>G (p.Leu37Val) single nucleotide variant not specified [RCV004389393] Chr1:152358776 [GRCh38]
Chr1:152331252 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1106A>T (p.Gln369Leu) single nucleotide variant not specified [RCV004389394] Chr1:152356680 [GRCh38]
Chr1:152329156 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1640G>A (p.Gly547Asp) single nucleotide variant not specified [RCV004389396] Chr1:152356146 [GRCh38]
Chr1:152328622 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2125C>T (p.His709Tyr) single nucleotide variant not specified [RCV004389398] Chr1:152355661 [GRCh38]
Chr1:152328137 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2471G>T (p.Gly824Val) single nucleotide variant not specified [RCV004389404] Chr1:152355315 [GRCh38]
Chr1:152327791 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2942C>T (p.Ser981Leu) single nucleotide variant not specified [RCV004389408] Chr1:152354844 [GRCh38]
Chr1:152327320 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3266A>G (p.Tyr1089Cys) single nucleotide variant not specified [RCV004389410] Chr1:152354520 [GRCh38]
Chr1:152326996 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3424G>T (p.Ala1142Ser) single nucleotide variant not specified [RCV004389412] Chr1:152354362 [GRCh38]
Chr1:152326838 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5017A>T (p.Thr1673Ser) single nucleotide variant not specified [RCV004389419] Chr1:152352769 [GRCh38]
Chr1:152325245 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5191T>G (p.Tyr1731Asp) single nucleotide variant not specified [RCV004389420] Chr1:152352595 [GRCh38]
Chr1:152325071 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5581G>T (p.Gly1861Cys) single nucleotide variant not specified [RCV004389422] Chr1:152352205 [GRCh38]
Chr1:152324681 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5597C>G (p.Thr1866Arg) single nucleotide variant not specified [RCV004389423] Chr1:152352189 [GRCh38]
Chr1:152324665 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6506G>C (p.Gly2169Ala) single nucleotide variant not specified [RCV004389429] Chr1:152351280 [GRCh38]
Chr1:152323756 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6647A>T (p.His2216Leu) single nucleotide variant not specified [RCV004389431] Chr1:152351139 [GRCh38]
Chr1:152323615 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6835G>A (p.Ala2279Thr) single nucleotide variant not specified [RCV004389432] Chr1:152350951 [GRCh38]
Chr1:152323427 [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.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.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_001014342.3(FLG2):c.3365C>T (p.Ser1122Leu) single nucleotide variant not specified [RCV004389411] Chr1:152354421 [GRCh38]
Chr1:152326897 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.4923A>T (p.Arg1641Ser) single nucleotide variant not specified [RCV004389417] Chr1:152352863 [GRCh38]
Chr1:152325339 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.6068C>T (p.Thr2023Ile) single nucleotide variant not specified [RCV004389427] Chr1:152351718 [GRCh38]
Chr1:152324194 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6349G>C (p.Val2117Leu) single nucleotide variant not specified [RCV004389428] Chr1:152351437 [GRCh38]
Chr1:152323913 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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_001014342.3(FLG2):c.2449T>C (p.Ser817Pro) single nucleotide variant not specified [RCV004389403] Chr1:152355337 [GRCh38]
Chr1:152327813 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3110G>T (p.Gly1037Val) single nucleotide variant not specified [RCV004389409] Chr1:152354676 [GRCh38]
Chr1:152327152 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.4164T>A (p.His1388Gln) single nucleotide variant not specified [RCV004389414] Chr1:152353622 [GRCh38]
Chr1:152326098 [GRCh37]
Chr1:1q21.3		 likely benign
NM_001014342.3(FLG2):c.4981G>T (p.Val1661Leu) single nucleotide variant not specified [RCV004389418] Chr1:152352805 [GRCh38]
Chr1:152325281 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.5905C>A (p.His1969Asn) single nucleotide variant not specified [RCV004389424] Chr1:152351881 [GRCh38]
Chr1:152324357 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.9566C>T (p.Ala3189Val) single nucleotide variant Inborn genetic diseases [RCV004389383] Chr1:152305320 [GRCh38]
Chr1:152277796 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.1912C>G (p.Gln638Glu) single nucleotide variant not specified [RCV004389397] Chr1:152355874 [GRCh38]
Chr1:152328350 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2329T>C (p.Ser777Pro) single nucleotide variant not specified [RCV004389399] Chr1:152355457 [GRCh38]
Chr1:152327933 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.6617C>T (p.Ser2206Phe) single nucleotide variant not specified [RCV004389430] Chr1:152351169 [GRCh38]
Chr1:152323645 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2563T>A (p.Ser855Thr) single nucleotide variant not specified [RCV004389405] Chr1:152355223 [GRCh38]
Chr1:152327699 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.2780C>A (p.Ser927Tyr) single nucleotide variant not specified [RCV004389407] Chr1:152355006 [GRCh38]
Chr1:152327482 [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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.2476C>T (p.Arg826Ter) single nucleotide variant Dermatitis, atopic, 2 [RCV001255624]|FLG-related condition [RCV003401213]|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_002016.2(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.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.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.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.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.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.3892del (p.Ser1298fs) deletion not provided [RCV000498647] Chr1:152310994 [GRCh38]
Chr1:152283470 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) microsatellite Autosomal dominant ichthyosis vulgaris [RCV002471266]|Ichthyosis vulgaris [RCV002249989] Chr1:152311909..152311910 [GRCh38]
Chr1:152284385..152284386 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001014342.3(FLG2):c.1700T>C (p.Phe567Ser) single nucleotide variant not specified [RCV004351765] Chr1:152356086 [GRCh38]
Chr1:152328562 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.8117C>G (p.Ser2706Ter) single nucleotide variant Ichthyosis vulgaris [RCV002248852]|not provided [RCV000657650] Chr1:152306769 [GRCh38]
Chr1:152279245 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_002016.2(FLG):c.7267_7268del (p.Gln2423fs) deletion not provided [RCV000256154] Chr1:152307618..152307619 [GRCh38]
Chr1:152280094..152280095 [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.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.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.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.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.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.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.5841G>A (p.Trp1947Ter) single nucleotide variant not provided [RCV001007978] Chr1:152309045 [GRCh38]
Chr1:152281521 [GRCh37]
Chr1:1q21.3		 pathogenic
NM_001009931.3(HRNR):c.21C>T (p.Gly7=) single nucleotide variant not provided [RCV000949468] Chr1:152223233 [GRCh38]
Chr1:152195709 [GRCh37]
Chr1:1q21.3		 benign|likely benign
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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.7618C>G (p.Arg2540Gly) single nucleotide variant Inborn genetic diseases [RCV003197445] Chr1:152307268 [GRCh38]
Chr1:152279744 [GRCh37]
Chr1:1q21.3		 uncertain significance
NM_001014342.3(FLG2):c.3035A>G (p.Tyr1012Cys) single nucleotide variant not specified [RCV004358908] Chr1:152354751 [GRCh38]
Chr1:152327227 [GRCh37]
Chr1:1q21.3		 uncertain significance
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.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.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.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.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.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.6220G>C (p.Glu2074Gln) single nucleotide variant not provided [RCV001541191] Chr1:152308666 [GRCh38]
Chr1:152281142 [GRCh37]
Chr1:1q21.3		 benign|likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:700
Count of miRNA genes:540
Interacting mature miRNAs:587
Transcripts:ENST00000382265, ENST00000392688, ENST00000420707, ENST00000445097, ENST00000593011
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH12458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371152,337,993 - 152,338,143UniSTSGRCh37
Build 361150,604,617 - 150,604,767RGDNCBI36
Celera1125,448,789 - 125,448,939RGD
Cytogenetic Map1q21.3UniSTS
HuRef1123,711,496 - 123,711,646UniSTS
GeneMap99-GB4 RH Map1553.58UniSTS
NCBI RH Map11352.9UniSTS
WI-15174  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371152,338,997 - 152,339,111UniSTSGRCh37
Build 361150,605,621 - 150,605,735RGDNCBI36
Celera1125,449,793 - 125,449,907RGD
Cytogenetic Map1q21.3UniSTS
HuRef1123,712,500 - 123,712,614UniSTS
GeneMap99-GB4 RH Map1553.58UniSTS
GeneMap99-GB4 RH Map1541.31UniSTS
Whitehead-RH Map1628.5UniSTS
NCBI RH Map11242.5UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 3 1 1 1 7 1 3 4 4 4
Low 1213 1320 1184 114 191 82 2174 722 2612 287 1223 1154 39 1 667 1319 1 1
Below cutoff 1137 1401 483 455 1007 329 2013 1437 1075 109 168 374 135 537 1452 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NR_103778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_103779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_186769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK056431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL627110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA985527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA985528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA985530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA985531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA985532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA985533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000382265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,249,003 - 152,271,094 (+)Ensembl
RefSeq Acc Id: ENST00000392688
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,313,459 - 152,365,652 (+)Ensembl
RefSeq Acc Id: ENST00000411804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,373,954 - 152,445,456 (+)Ensembl
RefSeq Acc Id: ENST00000420707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,351 - 152,341,110 (+)Ensembl
RefSeq Acc Id: ENST00000445097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,337,068 - 152,366,692 (+)Ensembl
RefSeq Acc Id: ENST00000593011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,168,125 - 152,332,686 (+)Ensembl
RefSeq Acc Id: ENST00000628475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,365,752 - 152,408,084 (+)Ensembl
RefSeq Acc Id: ENST00000629331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,335,379 - 152,364,080 (+)Ensembl
RefSeq Acc Id: ENST00000630125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,303 - 152,404,507 (+)Ensembl
RefSeq Acc Id: ENST00000653548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,344 - 152,405,050 (+)Ensembl
RefSeq Acc Id: ENST00000655109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,303 - 152,365,649 (+)Ensembl
RefSeq Acc Id: ENST00000658099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,331,476 - 152,365,639 (+)Ensembl
RefSeq Acc Id: ENST00000659844
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,352 - 152,365,557 (+)Ensembl
RefSeq Acc Id: ENST00000664213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,311 - 152,365,652 (+)Ensembl
RefSeq Acc Id: ENST00000665223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,312,576 - 152,338,518 (+)Ensembl
RefSeq Acc Id: ENST00000666686
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,352 - 152,365,652 (+)Ensembl
RefSeq Acc Id: ENST00000669062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,305 - 152,365,652 (+)Ensembl
RefSeq Acc Id: ENST00000669830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1152,189,333 - 152,365,638 (+)Ensembl
RefSeq Acc Id: NR_103778
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,313,459 - 152,366,692 (+)NCBI
HuRef1123,659,645 - 123,712,671 (+)NCBI
CHM1_11153,681,286 - 153,734,519 (+)NCBI
T2T-CHM13v2.01151,450,007 - 151,503,240 (+)NCBI
Sequence:
RefSeq Acc Id: NR_103779
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,337,068 - 152,366,692 (+)NCBI
HuRef1123,659,645 - 123,712,671 (+)NCBI
CHM1_11153,704,895 - 153,734,519 (+)NCBI
T2T-CHM13v2.01151,473,618 - 151,503,240 (+)NCBI
Sequence:
RefSeq Acc Id: NR_186761
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,365,668 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,502,216 (+)NCBI
RefSeq Acc Id: NR_186762
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,365,668 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,502,216 (+)NCBI
RefSeq Acc Id: NR_186763
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,365,668 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,502,216 (+)NCBI
RefSeq Acc Id: NR_186764
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,365,668 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,502,216 (+)NCBI
RefSeq Acc Id: NR_186765
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,365,668 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,502,216 (+)NCBI
RefSeq Acc Id: NR_186766
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,207,057 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,330,625 (+)NCBI
RefSeq Acc Id: NR_186767
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,207,057 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,330,625 (+)NCBI
RefSeq Acc Id: NR_186768
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,207,057 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,330,625 (+)NCBI
RefSeq Acc Id: NR_186769
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,207,057 (+)NCBI
T2T-CHM13v2.01151,312,870 - 151,330,625 (+)NCBI
Promoters
RGD ID:15095305
Promoter ID:EPDNEWNC_H124
Type:initiation region
Name:FLG-AS1_1
Description:FLG antisense RNA 1 [Source:HGNC Symbol;Acc:HGNC:27913]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381152,189,303 - 152,189,363EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC FLG-AS1 COSMIC
Ensembl Genes ENSG00000236427 Ensembl, ENTREZGENE
  ENSG00000237975 Ensembl
Ensembl Transcript ENST00000429352 ENTREZGENE
  ENST00000445097 ENTREZGENE
  ENST00000630125 ENTREZGENE
  ENST00000655109 ENTREZGENE
  ENST00000659844 ENTREZGENE
  ENST00000664213 ENTREZGENE
  ENST00000669062 ENTREZGENE
GTEx ENSG00000236427 GTEx
  ENSG00000237975 GTEx
HGNC ID HGNC:55988 ENTREZGENE
Human Proteome Map FLG-AS1 Human Proteome Map
NCBI Gene FLG-AS1 ENTREZGENE
RNAcentral URS000075D18A RNACentral
  URS000075D3B1 RNACentral
  URS00026A1A06 RNACentral
  URS00026A1B0C RNACentral
  URS00026A1C27 RNACentral
  URS00026A1C97 RNACentral
  URS00026A1CE2 RNACentral
  URS00026A1F88 RNACentral
  URS00026A22B9 RNACentral
  URS00026A22C3 RNACentral
  URS00026A27F3 RNACentral


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-07-13 FLG-AS1  FLG antisense RNA 1  CCDST  cervical cancer associated DHX9 suppressive transcript  Data merged from RGD:38663992 737654 PROVISIONAL
2022-08-22 CCDST  cervical cancer associated DHX9 suppressive transcript  LINC02962  long intergenic non-protein coding RNA 2962  Symbol and/or name change 19259463 PROVISIONAL
2021-11-29 LINC02962  long intergenic non-protein coding RNA 2962  LOC112268240  uncharacterized LOC112268240  Symbol and/or name change 19259463 PROVISIONAL
2012-08-21 FLG-AS1  FLG antisense RNA 1  FLG-AS1  FLG antisense RNA 1 (non-protein coding)  Symbol and/or name change 5135510 APPROVED