Full data view for gene GLIS2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_032575.2 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
Legend   How to query  

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.-70C>A r.(?) p.(=) Unknown - likely benign g.4382212C>A g.4332211C>A GLIS2(NM_001318918.1):c.-66-4C>A - GLIS2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.51C>G r.(?) p.(Leu17=) Unknown - likely benign g.4382332C>G g.4332331C>G GLIS2(NM_001318918.1):c.51C>G (p.L17=) - GLIS2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.53G>A r.(?) p.(Arg18Gln) Unknown - likely pathogenic g.4382334G>A g.4332333G>A GLIS2/NPHP7 c.53G>A, p.Arg18Gln - GLIS2_000022 single heterozygous variant in a recessive disease; no second causative allele found PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-79 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
-?/. - c.57G>A r.(?) p.(Ala19=) Unknown - likely benign g.4382338G>A - GLIS2(NM_001318918.1):c.57G>A (p.A19=) - GLIS2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70C>A r.(?) p.(Arg24=) Unknown - likely benign g.4382351C>A g.4332350C>A GLIS2(NM_032575.2):c.70C>A (p.R24=) - GLIS2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94C>T r.(?) p.(Arg32Trp) Unknown - likely benign g.4382375C>T g.4332374C>T GLIS2(NM_032575.2):c.94C>T (p.(Arg32Trp)) - GLIS2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.223G>T r.(?) p.(Ala75Ser) Unknown - benign g.4383398G>T g.4333397G>T GLIS2(NM_032575.2):c.223G>T (p.A75S) - GLIS2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223G>T r.(?) p.(Ala75Ser) Parent #1 - likely benign g.4383398G>T g.4333397G>T - - GLIS2_000014 16 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72766563 Germline - 16/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 16 Mohammed Faruq
-?/. - c.223G>T r.(?) p.(Ala75Ser) Both (homozygous) - likely benign g.4383398G>T g.4333397G>T - - GLIS2_000014 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72766563 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.239A>T r.(?) p.(Asp80Val) Unknown - VUS g.4383414A>T g.4333413A>T GLIS2(NM_001318918.1):c.239A>T (p.D80V) - GLIS2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.304C>T r.(?) p.(Arg102Cys) Unknown - likely benign g.4383479C>T - GLIS2(NM_001318918.1):c.304C>T (p.R102C) - GLIS2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.315C>T r.(?) p.(Asn105=) Unknown - likely benign g.4383490C>T - GLIS2(NM_001318918.1):c.315C>T (p.N105=) - GLIS2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383G>C r.(?) p.(Ser128Thr) Unknown - VUS g.4384839G>C - GLIS2(NM_032575.3):c.383G>C (p.(Ser128Thr)) - GLIS2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.523T>C r.(spl?) p.(Cys175Arg) Both (homozygous) - likely pathogenic g.4385061T>C g.4335060T>C - - GLIS2_000002 might affect splicing PubMed: Halbritter 2013; Journal: Halbritter 2013, OMIM:var0002 - rs587777353 Germline yes - - - - DNA SEQ - - NPHP1 - PubMed: Halbritter 2013; Journal: Halbritter 2013 - - - Turkey - - - - - 1 Johan den Dunnen
+?/. 4 c.523T>C r.(spl?) p.(Cys175Arg) Unknown - likely pathogenic g.4385061T>C g.4335060T>C - - GLIS2_000002 characterization of GLIS2 c.523T>C (p.C175R) by Halbritter shows C175R interferes with GLIS2 nuclear localization - - rs587777353 Unknown - - - - - DNA - - - - - - - - - - - - - - - - -
-?/. - c.570C>T r.(?) p.(Asn190=) Unknown - likely benign g.4385108C>T - GLIS2(NM_001318918.1):c.570C>T (p.N190=) - GLIS2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.587C>T r.(?) p.(Pro196Leu) Unknown - VUS g.4385125C>T - GLIS2(NM_032575.3):c.587C>T (p.(Pro196Leu)) - GLIS2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589G>A r.(?) p.(Glu197Lys) Unknown - VUS g.4385127G>A - GLIS2(NM_001318918.1):c.589G>A (p.E197K) - GLIS2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641G>A r.(?) p.(Arg214Gln) Unknown - VUS g.4385179G>A g.4335178G>A GLIS2(NM_032575.2):c.641G>A (p.R214Q) - GLIS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.747C>T r.(?) p.(Asn249=) Unknown - likely benign g.4385366C>T - GLIS2(NM_001318918.1):c.747C>T (p.N249=) - CORO7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.775+1G>T r.spl? p.? Both (homozygous) - pathogenic g.4385395G>T g.4335394G>T IVS5+1G>T - GLIS2_000001 not in 188 control chromosomes; localized by homozygosity mapping PubMed: Attanasio 2007; Journal: Attanasio 2007, OMIM:var0001 - - Germline yes - - - - DNA arraySNP, SEQ - - NPHP1 - PubMed: Attanasio 2007; Journal: Attanasio 2007 5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents - yes Canada Oji-Cree - - - - 3 Johan den Dunnen
-?/. - c.775+20C>T r.(=) p.(=) Unknown - likely benign g.4385414C>T - GLIS2(NM_032575.2):c.775+20C>T - CORO7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.864T>C r.(?) p.(Tyr288=) Unknown - benign g.4386814T>C g.4336813T>C GLIS2(NM_032575.3):c.864T>C (p.Y288=) - GLIS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.864T>C r.(?) p.(Tyr288=) Unknown - benign g.4386814T>C g.4336813T>C GLIS2(NM_032575.3):c.864T>C (p.Y288=) - GLIS2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.885C>G r.(?) p.(Cys295Trp) Unknown - VUS g.4386835C>G - GLIS2(NM_001318918.1):c.885C>G (p.C295W) - CORO7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.894C>T r.(?) p.(Pro298=) Unknown - likely benign g.4386844C>T - GLIS2(NM_032575.2):c.894C>T (p.P298=) - CORO7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.959T>G r.(?) p.(Phe320Cys) Unknown - VUS g.4386909T>G - GLIS2(NM_001318918.1):c.959T>G (p.F320C) - CORO7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.970G>A r.(?) p.(Glu324Lys) Unknown - VUS g.4386920G>A g.4336919G>A GLIS2(NM_001318918.1):c.970G>A (p.E324K) - CORO7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.996C>T r.(?) p.(Arg332=) Unknown - likely benign g.4386946C>T - GLIS2(NM_001318918.1):c.996C>T (p.R332=) - CORO7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1010C>T r.(?) p.(Pro337Leu) Parent #1 - likely benign g.4386960C>T g.4336959C>T - - GLIS2_000016 35 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140544340 Germline - 35/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 35 Mohammed Faruq
-/. - c.1010C>T r.(?) p.(Pro337Leu) Unknown - benign g.4386960C>T - GLIS2(NM_032575.2):c.1010C>T (p.P337L) - GLIS2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1011G>A r.(?) p.(=) Unknown - likely benign g.4386961G>A - GLIS2(NM_032575.2):c.1011G>A (p.P337=) - CORO7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1078G>A r.(?) p.(Ala360Thr) Unknown - VUS g.4387028G>A g.4337027G>A - - GLIS2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1128C>T r.(?) p.(Pro376=) Unknown - likely benign g.4387078C>T g.4337077C>T GLIS2(NM_032575.2):c.1128C>T (p.P376=) - CORO7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1129G>C r.(?) p.(Gly377Arg) Unknown - likely benign g.4387079G>C g.4337078G>C GLIS2(NM_032575.2):c.1129G>C (p.(Gly377Arg)) - CORO7_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1177G>A r.(?) p.(Gly393Arg) Unknown - VUS g.4387127G>A g.4337126G>A GLIS2(NM_032575.2):c.1177G>A (p.G393R) - GLIS2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1188G>A r.(?) p.(Gly396=) Unknown - likely benign g.4387138G>A - GLIS2(NM_001318918.1):c.1188G>A (p.G396=) - CORO7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1259C>T r.(?) p.(Pro420Leu) Unknown - likely benign g.4387209C>T - GLIS2(NM_032575.2):c.1259C>T (p.P420L) - CORO7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284G>A r.(?) p.(Leu428=) Unknown - likely benign g.4387234G>A - GLIS2(NM_001318918.1):c.1284G>A (p.L428=) - CORO7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1326C>T r.(?) p.(Ala442=) Unknown - likely benign g.4387276C>T - GLIS2(NM_032575.2):c.1326C>T (p.A442=) - CORO7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1335G>C r.(?) p.(Glu445Asp) Unknown - likely benign g.4387285G>C g.4337284G>C GLIS2(NM_001318918.1):c.1335G>C (p.E445D) - GLIS2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1350G>A r.(?) p.(Ser450=) Unknown - likely benign g.4387300G>A - GLIS2(NM_032575.2):c.1350G>A (p.S450=) - CORO7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1355C>T r.(?) p.(Pro452Leu) Unknown - VUS g.4387305C>T - GLIS2(NM_032575.3):c.1355C>T (p.P452L) - CORO7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1388C>T r.(?) p.(Thr463Met) Unknown - VUS g.4387338C>T g.4337337C>T GLIS2(NM_032575.2):c.1388C>T (p.T463M) - CORO7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403C>T r.(?) p.(Thr468Met) Unknown - likely benign g.4387353C>T - GLIS2(NM_001318918.1):c.1403C>T (p.(Thr468Met)) - CORO7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1432G>A r.(?) p.(Asp478Asn) Unknown - VUS g.4387382G>A g.4337381G>A GLIS2(NM_032575.2):c.1432G>A (p.(Asp478Asn)) - GLIS2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1464G>A r.(?) p.(Leu488=) Unknown - likely benign g.4387414G>A - GLIS2(NM_032575.2):c.1464G>A (p.L488=) - CORO7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1474A>G r.(?) p.(Thr492Ala) Parent #1 - likely benign g.4387424A>G g.4337423A>G - - CORO7_000006 44 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs8057701 Germline - 44/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 44 Mohammed Faruq
-?/. - c.1476G>A r.(?) p.(Thr492=) Unknown - likely benign g.4387426G>A g.4337425G>A GLIS2(NM_032575.2):c.1476G>A (p.T492=) - GLIS2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1557del r.(?) p.(Lys519AsnfsTer5) Unknown - pathogenic g.4387507del g.4337506del GLIS2(NM_001318918.1):c.1557delA (p.K519Nfs*5) - CORO7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2872C>G r.(=) p.(=) Unknown - VUS g.4390397C>G - CORO7-PAM16(NM_001201479.1):c.3070G>C (p.(Ala1024Pro)) - CORO7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3389C>A r.(=) p.(=) Unknown - likely benign g.4390914C>A - CORO7-PAM16(NM_001201479.1):c.3060+7G>T (p.(=)) - CORO7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3464G>A r.(=) p.(=) Unknown - VUS g.4390989G>A g.4340988G>A CORO7-PAM16(NM_001201479.1):c.2995-3C>T (p.?) - CORO7-PAM16_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3938C>T r.(=) p.(=) Unknown - likely benign g.4391463C>T - CORO7-PAM16(NM_001201479.1):c.2900G>A (p.(Arg967Gln)) - CORO7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3951G>A r.(=) p.(=) Unknown - VUS g.4391476G>A - CORO7-PAM16(NM_001201479.1):c.2887C>T (p.(Arg963Cys)), PAM16(NM_016069.10):c.118C>T (p.R40C) - CORO7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3951G>A r.(=) p.(=) Unknown - VUS g.4391476G>A - CORO7-PAM16(NM_001201479.1):c.2887C>T (p.(Arg963Cys)), PAM16(NM_016069.10):c.118C>T (p.R40C) - CORO7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3984dup r.(?) p.(=) Unknown - likely benign g.4391509dup - PAM16(NM_016069.11):c.89-4dup - CORO7_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5679T>G r.(=) p.(=) Unknown - likely benign g.4393204T>G g.4343203T>G CORO7-PAM16(NM_001201479.1):c.2857+4A>C (p.?) - CORO7_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.