Full data view for gene FLG

Information The variants shown are described using the NM_002016.1 transcript reference sequence.

743 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-31972C>T r.(?) p.(=) Unknown - VUS g.152329615G>A - FLG2(NM_001014342.2):c.647C>T (p.S216F) - FLG_000538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-31911T>C r.(?) p.(=) Unknown - likely benign g.152329554A>G - FLG2(NM_001014342.2):c.708T>C (p.G236=) - FLG_000537 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-31664T>A r.(?) p.(=) Unknown - likely benign g.152329307A>T - FLG2(NM_001014342.3):c.955T>A (p.S319T) - FLG_000449 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-31192C>T r.(?) p.(=) Unknown - VUS g.152328835G>A - FLG2(NM_001014342.2):c.1427C>T (p.(Thr476Ile)) - FLG_000646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-31059_-31021del r.(?) p.(=) Unknown - VUS g.152328711_152328749del - FLG2(NM_001014342.3):c.1560_1598del (p.G522_H534del) - FLG_000478 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-30599G>A r.(?) p.(=) Unknown - VUS g.152328242C>T - FLG2(NM_001014342.2):c.2020G>A (p.(Gly674Ser)) - FLG_000645 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-30512del r.(?) p.(=) Unknown - pathogenic g.152328155del g.152355679del FLG2(NM_001014342.2):c.2107delT (p.S703Hfs*22) - FLG_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30354C>A r.(?) p.(=) Unknown - likely benign g.152327997G>T g.152355521G>T FLG2(NM_001014342.2):c.2265C>A (p.S755=) - FLG_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30024_-29794del r.(?) p.(=) Unknown - likely benign g.152327469_152327699del g.152354993_152355223del FLG2(NM_001014342.2):c.2595_2825del (p.(Ser869_Thr945del)), FLG2(NM_001014342.3):c.2595_2825del (p.S869_T945del) - FLG_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30024_-29794del r.(?) p.(=) Unknown - benign g.152327469_152327699del - FLG2(NM_001014342.2):c.2595_2825del (p.(Ser869_Thr945del)), FLG2(NM_001014342.3):c.2595_2825del (p.S869_T945del) - FLG_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-29898C>A r.(?) p.(=) Unknown - likely pathogenic g.152327541G>T g.152355065G>T FLG2(NM_001014342.3):c.2721C>A (p.Y907*) - FLG_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-29826G>T r.(?) p.(=) Unknown - VUS g.152327469C>A - FLG2(NM_001014342.3):c.2793G>T (p.Q931H) - FLG_000553 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-29518_-29515del r.(?) p.(=) Unknown - VUS g.152327158_152327161del g.152354682_152354685del FLG2(NM_001014342.3):c.3101_3104delAATA (p.Q1034Pfs*192) - FLG_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29364A>G r.(?) p.(=) Unknown - likely benign g.152327007T>C g.152354531T>C FLG2(NM_001014342.2):c.3255A>G (p.Q1085=) - FLG_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29020G>T r.(?) p.(=) Unknown - likely benign g.152326663C>A - FLG2(NM_001014342.3):c.3599G>T (p.(Gly1200Val)) - FLG_000594 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-28680_-28679dup r.(?) p.(=) Unknown - VUS g.152326322_152326323dup g.152353846_152353847dup FLG2(NM_001014342.3):c.3939_3940dup (p.(Thr1314IlefsTer223)), FLG2(NM_001014342.3):c.3939_3940dupTA (p.T1314Ifs*223) - FLG_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-28680_-28679dup r.(?) p.(=) Unknown - VUS g.152326322_152326323dup - FLG2(NM_001014342.3):c.3939_3940dup (p.(Thr1314IlefsTer223)), FLG2(NM_001014342.3):c.3939_3940dupTA (p.T1314Ifs*223) - FLG_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-28055del r.(?) p.(=) Unknown - VUS g.152325698del - FLG2(NM_001014342.3):c.4564delC (p.H1522Tfs*14) - FLG_000434 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27598A>C r.(?) p.(=) Unknown - benign g.152325241T>G - FLG2(NM_001014342.3):c.5021A>C (p.H1674P) - FLG_000552 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27543T>A r.(?) p.(=) Unknown - likely benign g.152325186A>T - FLG2(NM_001014342.3):c.5076T>A (p.(His1692Gln)) - FLG_000661 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27523C>G r.(?) p.(=) Unknown - likely benign g.152325166G>C - FLG2(NM_001014342.3):c.5096C>G (p.(Thr1699Arg)) - FLG_000660 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27223G>A r.(?) p.(=) Unknown - VUS g.152324866C>T g.152352390C>T FLG2(NM_001014342.3):c.5396G>A (p.R1799K) - FLG_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26789G>A r.(?) p.(=) Unknown - VUS g.152324432C>T - FLG2(NM_001014342.3):c.5830G>A (p.G1944R) - FLG_000497 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.63dup r.(?) p.(Asp22Argfs*2) Unknown - VUS g.152287876dup - FLG(NM_002016.2):c.63dup (p.(Asp22ArgfsTer2)) - FLG_000593 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.94G>T r.(?) p.(Glu32*) Parent #1 - pathogenic g.152287839C>A g.152315363C>A - - FLG_000351 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114733570 Germline - 6/2762 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 6 Mohammed Faruq
+/. - c.94G>T r.(?) p.(Glu32*) Unknown - pathogenic g.152287839C>A - - - FLG_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124C>T r.(?) p.(Arg42Trp) Unknown - likely benign g.152287809G>A - FLG(NM_002016.1):c.124C>T (p.(Arg42Trp)) - FLG_000644 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125G>A r.(?) p.(Arg42Gln) Unknown - VUS g.152287808C>T - FLG(NM_002016.1):c.125G>A (p.R42Q) - FLG_000536 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.138+1G>C r.spl? p.? Unknown - pathogenic g.152287794C>G - FLG(NM_002016.1):c.138+1G>C - FLG_000535 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.139-9T>C r.(=) p.(=) Unknown - likely benign g.152287232A>G - FLG(NM_002016.1):c.139-9T>C - FLG_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139-9T>G r.(=) p.(=) Unknown - VUS g.152287232A>C - FLG(NM_002016.2):c.139-9T>G - FLG_000592 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.149A>G r.(?) p.(Asp50Gly) Unknown - benign g.152287213T>C g.152314737T>C - - FLG_000429 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.194A>G r.(?) p.(His65Arg) Unknown - likely benign g.152287168T>C - FLG(NM_002016.2):c.194A>G (p.(His65Arg)) - FLG_000659 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209A>C r.(?) p.(Asp70Ala) Unknown - VUS g.152287153T>G - FLG(NM_002016.2):c.209A>C (p.D70A) - FLG_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.284C>T r.(?) p.(Pro95Leu) Unknown - benign g.152287078G>A g.152314602G>A - - FLG_000428 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336T>C r.(?) p.(Asp112=) Unknown - likely benign g.152287026A>G g.152314550A>G FLG(NM_002016.1):c.336T>C (p.D112=) - FLG_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.498T>G r.(?) p.(Pro166=) Unknown - likely benign g.152286864A>C g.152314388A>C FLG(NM_002016.1):c.498T>G (p.P166=) - FLG_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.527A>G r.(?) p.(Asn176Ser) Unknown - likely benign g.152286835T>C - FLG(NM_002016.1):c.527A>G (p.(Asn176Ser)) - FLG_000643 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.558C>A r.(?) p.(Asn186Lys) Unknown - likely benign g.152286804G>T - FLG(NM_002016.1):c.558C>A (p.(Asn186Lys)) - FLG_000642 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.754G>A r.(?) p.(Glu252Lys) Unknown - VUS g.152286608C>T g.152314132C>T FLG(NM_002016.1):c.754G>A (p.E252K) - FLG_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.975G>A r.(?) p.(=) Unknown - likely benign g.152286387C>T - FLG(NM_002016.2):c.975G>A (p.(Ala325=)) - FLG_000591 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.995G>T r.(?) p.(Gly332Val) Unknown - benign g.152286367C>A g.152313891C>A - - FLG_000427 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1020T>A r.(?) p.(Asp340Glu) Unknown - VUS g.152286342A>T - FLG(NM_002016.1):c.1020T>A (p.(Asp340Glu)) - FLG_000641 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1111T>A r.(?) p.(Ser371Thr) Unknown - VUS g.152286251A>T g.152313775A>T FLG(NM_002016.1):c.1111T>A (p.(Ser371Thr)) - FLG_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157C>G r.(?) p.(Ser386Cys) Unknown - VUS g.152286205G>C - FLG(NM_002016.1):c.1157C>G (p.(Ser386Cys)) - FLG_000640 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1204C>T r.(?) p.(Arg402Cys) Unknown - VUS g.152286158G>A - FLG(NM_002016.1):c.1204C>T (p.R402C) - FLG_000496 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214C>T r.(?) p.(Ala405Val) Unknown - VUS g.152286148G>A - FLG(NM_002016.1):c.1214C>T (p.(Ala405Val)) - FLG_000639 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1236T>C r.(?) p.(Arg412=) Unknown - benign g.152286126A>G g.152313650A>G FLG(NM_002016.2):c.1236T>C (p.R412=), FLG-AS1(NR_103778.1):n.192A>G - FLG_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1236T>C r.(?) p.(Arg412=) Unknown - benign g.152286126A>G g.152313650A>G FLG(NM_002016.2):c.1236T>C (p.R412=), FLG-AS1(NR_103778.1):n.192A>G - FLG_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1255G>A r.(?) p.(Gly419Ser) Unknown - benign g.152286107C>T g.152313631C>T - - FLG_000426 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1276G>A r.(?) p.(Glu426Lys) Unknown - VUS g.152286086C>T g.152313610C>T FLG(NM_002016.1):c.1276G>A (p.E426K) - FLG_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1330G>A r.(?) p.(Gly444Arg) Unknown - benign g.152286032C>T g.152313556C>T - - FLG_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1342C>A r.(?) p.(Gln448Lys) Unknown - likely benign g.152286020G>T g.152313544G>T FLG(NM_002016.1):c.1342C>A (p.Q448K) - FLG_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1360A>G r.(?) p.(Thr454Ala) Unknown - benign g.152286002T>C g.152313526T>C - - FLG_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1378G>T r.(?) p.(Glu460*) Unknown - pathogenic g.152285984C>A - FLG(NM_002016.2):c.1378G>T (p.E460*) - FLG_000476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1378G>T r.(?) p.(Glu460*) Unknown - pathogenic g.152285984C>A - FLG(NM_002016.2):c.1378G>T (p.E460*) - FLG_000476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1387G>A r.(?) p.(Gly463Arg) Unknown - VUS g.152285975C>T - FLG(NM_002016.1):c.1387G>A (p.(Gly463Arg)) - FLG_000638 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1432C>T r.(?) p.(Pro478Ser) Unknown - benign g.152285930G>A g.152313454G>A FLG(NM_002016.2):c.1432C>T (p.P478S) - FLG_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432C>T r.(?) p.(Pro478Ser) Unknown - likely benign g.152285930G>A - FLG(NM_002016.2):c.1432C>T (p.P478S) - FLG_000423 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1455C>T r.(?) p.(Thr485=) Unknown - likely benign g.152285907G>A - FLG(NM_002016.2):c.1455C>T (p.T485=) - FLG_000550 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1484C>A r.(?) p.(Ser495*) Unknown - pathogenic g.152285878G>T - FLG(NM_002016.1):c.1484C>A (p.S495*) - FLG_000534 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1491C>T r.(?) p.(His497=) Unknown - likely benign g.152285871G>A - FLG(NM_002016.1):c.1491C>T (p.H497=) - FLG_000533 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1494G>C r.(?) p.(Glu498Asp) Unknown - benign g.152285868C>G g.152313392C>G FLG(NM_002016.1):c.1494G>C (p.E498D, p.(Glu498Asp)) - FLG_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1494G>C r.(?) p.(Glu498Asp) Unknown - likely benign g.152285868C>G g.152313392C>G FLG(NM_002016.1):c.1494G>C (p.E498D, p.(Glu498Asp)) - FLG_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.1501C>T r.(?) p.(Arg501*) Both (homozygous) - pathogenic g.152285861G>A g.152313385G>A R501X - FLG_000004 - PubMed: Smith 2006 ClinVar-RCV000678332.1 rs61816761 Germline yes 0.009386 NlaIII+ - - DNA RFLP, SEQ - - ichthyosis vulgaris - PubMed: Smith 2006 Frequent mutation in the European population - - United Kingdom (Great Britain) - - - - - 1 Michel van Geel
./. - c.1501C>T r.(?) p.(Arg501*) Both (homozygous) - pathogenic g.152285861G>A g.152313385G>A - - FLG_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.1501C>T r.(?) p.(Arg501*) Parent #2 - pathogenic g.152285861G>A g.152313385G>A - - FLG_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
./. - c.1501C>T r.(?) p.(Arg501*) Parent #2 - pathogenic g.152285861G>A g.152313385G>A - - FLG_000004 association variant/phenotype uncertain PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 uninherited diplotypes - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A g.152313385G>A FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501C>T r.(?) p.(Arg501Ter) Unknown - pathogenic g.152285861G>A - FLG(NM_002016.1):c.1501C>T (p.R501*), FLG(NM_002016.2):c.1501C>T (p.(Arg501Ter), p.R501*) - FLG_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1501C>T r.(?) p.(Arg501Ter) Parent #1 - likely pathogenic (recessive) g.152285861G>A g.152313385G>A - - FLG_000004 ACMG PVS1, PP5 PubMed: Schuermans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? Pat28 PubMed: Schuermans 2022 analysis 329 adult patients suffering from undiagnosed rare disease M - Belgium - - - - - 1 Johan den Dunnen
+/. - c.1501C>T r.(?) p.(Arg501*) Maternal (confirmed) - pathogenic (!) g.152285861G>A g.152313385G>A - - FLG_000004 variant associated with dermatities showing incomplete penetrance and variable expressivity - - - Germline - - - - - DNA SEQ, SEQ-NG - WES ATOD, ECTD, WITKOS patient PubMed: Ferrer 2019 3-generation family, 1 triple affected F - United States - - - - - 1 Johan den Dunnen
+?/. - c.1501C>T r.(?) p.(Arg501*) Unknown - VUS g.152285861G>A - - - FLG_000004 candidate variant in IEI panel PubMed: van der Made 2024, Journal: van der Made 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - trio WES SCID Pat1 PubMed: van der Made 2024, Journal: van der Made 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - Europe - - - - 1 Johan den Dunnen
?/. - c.1542C>A r.(?) p.(Asp514Glu) Unknown - VUS g.152285820G>T - FLG(NM_002016.2):c.1542C>A (p.D514E) - FLG_000475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1573G>A r.(?) p.(Gly525Arg) Unknown - likely benign g.152285789C>T - FLG(NM_002016.1):c.1573G>A (p.(Gly525Arg)) - FLG_000637 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1603T>C r.(?) p.(Ser535Pro) Unknown - likely benign g.152285759A>G g.152313283A>G FLG(NM_002016.1):c.1603T>C (p.(Ser535Pro)) - FLG_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1683G>C r.(?) p.(Gln561His) Unknown - benign g.152285679C>G - FLG(NM_002016.2):c.1683G>C (p.(Gln561His)) - FLG_000590 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1714C>G r.(?) p.(Arg572Gly) Unknown - VUS g.152285648G>C - FLG(NM_002016.1):c.1714C>G (p.R572G) - FLG_000532 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1714C>T r.(?) p.(Arg572*) Unknown - pathogenic g.152285648G>A - FLG(NM_002016.1):c.1714C>T (p.R572*) - FLG_000495 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1714C>T r.(?) p.(Arg572*) Unknown - pathogenic g.152285648G>A - FLG(NM_002016.1):c.1714C>T (p.R572*) - FLG_000495 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1737C>T r.(?) p.(Asp579=) Unknown - likely benign g.152285625G>A - FLG(NM_002016.1):c.1737C>T (p.D579=) - FLG_000531 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1741A>T r.(?) p.(Thr581Ser) Unknown - likely benign g.152285621T>A g.152313145T>A FLG(NM_002016.1):c.1741A>T (p.T581S, p.(Thr581Ser)) - FLG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1741A>T r.(?) p.(Thr581Ser) Unknown - likely benign g.152285621T>A g.152313145T>A FLG(NM_002016.1):c.1741A>T (p.T581S, p.(Thr581Ser)) - FLG_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1791C>G r.(?) p.(Ser597Arg) Unknown - VUS g.152285571G>C - FLG(NM_002016.2):c.1791C>G (p.S597R) - FLG_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1813C>T r.(?) p.(Gln605*) Unknown - VUS g.152285549G>A - FLG(NM_002016.2):c.1813C>T (p.(Gln605*)) - FLG_000589 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1828G>A r.(?) p.(Gly610Arg) Unknown - likely benign g.152285534C>T g.152313058C>T FLG(NM_002016.1):c.1828G>A (p.(Gly610Arg)) - FLG_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1829G>T r.(?) p.(Gly610Val) Unknown - VUS g.152285533C>A g.152313057C>A FLG(NM_002016.1):c.1829G>T (p.G610V) - FLG_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1849C>T r.(?) p.(Gln617*) Unknown - VUS g.152285513G>A - FLG(NM_002016.2):c.1849C>T (p.(Gln617Ter)) - FLG_000588 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1899C>T r.(?) p.(Asp633=) Unknown - likely benign g.152285463G>A - FLG(NM_002016.1):c.1899C>T (p.D633=) - FLG_000494 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1992C>A r.(?) p.(His664Gln) Unknown - benign g.152285370G>T - - - FLG_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1993G>A r.(?) p.(Glu665Lys) Unknown - likely benign g.152285369C>T g.152312893C>T FLG(NM_002016.1):c.1993G>A (p.(Glu665Lys)) - FLG_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2018C>G r.(?) p.(Ser673Cys) Unknown - likely benign g.152285344G>C - FLG(NM_002016.1):c.2018C>G (p.(Ser673Cys)) - FLG_000636 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2023G>C r.(?) p.(Asp675His) Unknown - VUS g.152285339C>G g.152312863C>G FLG(NM_002016.1):c.2023G>C (p.D675H, p.(Asp675His)) - FLG_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2023G>C r.(?) p.(Asp675His) Unknown - likely benign g.152285339C>G g.152312863C>G FLG(NM_002016.1):c.2023G>C (p.D675H, p.(Asp675His)) - FLG_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2036A>T r.(?) p.(Lys679Ile) Unknown - likely benign g.152285326T>A - FLG(NM_002016.1):c.2036A>T (p.(Lys679Ile)) - FLG_000635 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2047C>T r.(?) p.(Arg683Cys) Unknown - VUS g.152285315G>A - FLG(NM_002016.1):c.2047C>T (p.R683C) - FLG_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2052C>A r.(?) p.(His684Gln) Unknown - likely benign g.152285310G>T - FLG(NM_002016.1):c.2052C>A (p.(His684Gln)) - FLG_000634 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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