Full data view for gene IGLL1

Information The variants shown are described using the NM_020070.2 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.67C>T r.(?) p.(Arg23Cys) Unknown - VUS g.23922311G>A - - - IGLL1_000023 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-/. - c.97G>A r.(?) p.(Val33Met) Parent #1 - benign g.23922281C>T g.23580094C>T - - IGLL1_000020 208 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116760479 Germline - 208/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 208 Mohammed Faruq
-/. - c.97G>A r.(?) p.(Val33Met) Both (homozygous) - benign g.23922281C>T g.23580094C>T - - IGLL1_000020 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116760479 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.157G>T r.(?) p.(Gly53*) Unknown - pathogenic g.23922221C>A g.23580034C>A IGLL1(NM_020070.2):c.157G>T (p.G53*) - IGLL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.157G>T r.(?) p.(Gly53*) Unknown - pathogenic g.23922221C>A g.23580034C>A IGLL1(NM_020070.2):c.157G>T (p.G53*) - IGLL1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.206+74G>A r.(=) p.(=) Unknown - benign g.23922098C>T g.23579911C>T IGLL1(NM_020070.2):c.206+74G>A - IGLL1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207-9T>A r.(=) p.(=) Unknown - likely benign g.23917278A>T - IGLL1(NM_020070.2):c.207-9T>A - IGLL1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233C>T r.(?) p.(Thr78Ile) Unknown - likely benign g.23917243G>A - IGLL1(NM_020070.2):c.233C>T (p.T78I) - IGLL1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.258del r.(?) p.(Gln88Asnfs*7) Unknown - likely pathogenic g.23917222del g.23575035del IGLL1(NM_020070.2):c.258delG (p.Q88Nfs*7), IGLL1(NM_020070.4):c.258delG (p.Q88Nfs*7) - IGLL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.258del r.(?) p.(Gln88Asnfs*7) Unknown - VUS g.23917222del - IGLL1(NM_020070.2):c.258delG (p.Q88Nfs*7), IGLL1(NM_020070.4):c.258delG (p.Q88Nfs*7) - IGLL1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276C>T r.(?) p.(=) Unknown - likely benign g.23917200G>A g.23575013G>A IGLL1(NM_020070.3):c.276C>T (p.(=)) - IGLL1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.284C>A r.(?) p.(Thr95Lys) Unknown - benign g.23917192G>T g.23575005G>T IGLL1(NM_020070.2):c.284C>A (p.T95K), IGLL1(NM_020070.3):c.284C>A (p.(Thr95Lys)) - IGLL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.284C>A r.(?) p.(Thr95Lys) Unknown - likely benign g.23917192G>T g.23575005G>T IGLL1(NM_020070.2):c.284C>A (p.T95K), IGLL1(NM_020070.3):c.284C>A (p.(Thr95Lys)) - IGLL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.284C>A r.(?) p.(Thr95Lys) Unknown - benign g.23917192G>T - IGLL1(NM_020070.2):c.284C>A (p.T95K), IGLL1(NM_020070.3):c.284C>A (p.(Thr95Lys)) - IGLL1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>A r.(?) p.(=) Unknown - likely benign g.23917167C>T - IGLL1(NM_020070.2):c.309G>A (p.Q103=) - IGLL1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.334G>A r.(?) p.(Ala112Thr) Unknown - likely benign g.23915761C>T g.23573574C>T IGLL1(NM_020070.2):c.334G>A (p.A112T) - IGLL1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.336C>T r.(?) p.(=) Unknown - VUS g.23915759G>A g.23573572G>A IGLL1(NM_020070.3):c.336C>T (p.(=)), IGLL1(NM_152855.2):c.220C>T (p.H74Y) - IGLL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.336C>T r.(?) p.(=) Unknown - likely benign g.23915759G>A g.23573572G>A IGLL1(NM_020070.3):c.336C>T (p.(=)), IGLL1(NM_152855.2):c.220C>T (p.H74Y) - IGLL1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342C>G r.(?) p.(=) Unknown - VUS g.23915753G>C g.23573566G>C IGLL1(NM_020070.2):c.342C>G (p.P114=), IGLL1(NM_020070.3):c.342C>G (p.(=)), IGLL1(NM_152855.2):c.226C>G (p.L76V) - IGLL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.342C>G r.(?) p.(=) Unknown - VUS g.23915753G>C - IGLL1(NM_020070.2):c.342C>G (p.P114=), IGLL1(NM_020070.3):c.342C>G (p.(=)), IGLL1(NM_152855.2):c.226C>G (p.L76V) - IGLL1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350C>T r.(?) p.(Thr117Ile) Unknown - VUS g.23915745G>A g.23573558G>A IGLL1(NM_020070.2):c.350C>T (p.T117I), IGLL1(NM_020070.3):c.350C>T (p.(Thr117Ile)) - IGLL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350C>T r.(?) p.(Thr117Ile) Unknown - VUS g.23915745G>A g.23573558G>A IGLL1(NM_020070.2):c.350C>T (p.T117I), IGLL1(NM_020070.3):c.350C>T (p.(Thr117Ile)) - IGLL1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.393T>C r.(?) p.(=) Unknown - likely benign g.23915702A>G g.23573515A>G IGLL1(NM_020070.2):c.393T>C (p.A131=) - IGLL1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421del r.(?) p.(Tyr141Ilefs*5) Unknown - VUS g.23915677del - IGLL1(NM_020070.2):c.421delT (p.Y141Ifs*5) - IGLL1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.425C>T r.(?) p.(Pro142Leu) Unknown - VUS g.23915670G>A g.23573483G>A IGLL1(NM_020070.2):c.425C>T (p.P142L) - IGLL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.425C>T r.(?) p.(Pro142Leu) Unknown - likely pathogenic g.23915670G>A - IGLL1(NM_020070.2):c.425C>T (p.P142L) - IGLL1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.437C>T r.(?) p.(Thr146Met) Unknown - likely benign g.23915658G>A g.23573471G>A IGLL1(NM_020070.2):c.437C>T (p.T146M) - IGLL1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.475G>A r.(?) p.(Gly159Ser) Unknown - likely benign g.23915620C>T g.23573433C>T IGLL1(NM_020070.2):c.475G>A (p.G159S) - IGLL1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.485T>A r.(?) p.(Met162Lys) Unknown - benign g.23915610A>T g.23573423A>T IGLL1(NM_020070.2):c.485T>A (p.M162K) - IGLL1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.485T>C r.(?) p.(Met162Thr) Unknown - benign g.23915610A>G g.23573423A>G IGLL1(NM_020070.2):c.485T>C (p.M162T) - IGLL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.485T>C r.(?) p.(Met162Thr) Unknown - likely benign g.23915610A>G - IGLL1(NM_020070.2):c.485T>C (p.M162T) - IGLL1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.520G>A r.(?) p.(Ala174Thr) Unknown - likely benign g.23915575C>T g.23573388C>T IGLL1(NM_020070.2):c.520G>A (p.A174T) - IGLL1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546G>C r.(?) p.(=) Unknown - likely benign g.23915549C>G - IGLL1(NM_020070.2):c.546G>C (p.T182=) - IGLL1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.549C>T r.(?) p.(=) Unknown - likely benign g.23915546G>A g.23573359G>A IGLL1(NM_020070.3):c.549C>T (p.(=)) - IGLL1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.550G>A r.(?) p.(Glu184Lys) Unknown - likely benign g.23915545C>T g.23573358C>T IGLL1(NM_020070.2):c.550G>A (p.E184K) - IGLL1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.566G>A r.(?) p.(Arg189His) Unknown - benign g.23915529C>T g.23573342C>T IGLL1(NM_020070.2):c.566G>A (p.R189H) - IGLL1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588C>T r.(?) p.(Val196=) Unknown - likely benign g.23915507G>A - IGLL1(NM_020070.2):c.588C>T (p.V196=) - IGLL1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.616A>T r.(?) p.(Thr206Ser) Unknown - likely benign g.23915479T>A - IGLL1(NM_020070.2):c.616A>T (p.T206S) - IGLL1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.618G>A r.(?) p.(=) Unknown - likely benign g.23915477C>T g.23573290C>T IGLL1(NM_020070.2):c.618G>A (p.T206=) - IGLL1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(=) Unknown - likely benign g.23915471G>A - IGLL1(NM_020070.2):c.624C>T (p.A208=) - IGLL1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*24A>C r.(=) p.(=) Unknown - benign g.23915429T>G g.23573242T>G IGLL1(NM_020070.2):c.*24A>C - IGLL1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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