Full data view for gene GLI1

Information The variants shown are described using the NM_005269.2 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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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.? r.(?) p.(Pro1080Leu) Unknown - VUS g.? - - - ALX1_000001 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K196 PubMed: Heidet 2017 - - - France - - - - - 1 Johan den Dunnen
?/. - c.? r.(?) p.(Arg323Gln) Unknown - VUS g.? - - - ALX1_000001 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 330-gene panel CAKUT K183 PubMed: Heidet 2017 fetus - - France - - - - - 1 Johan den Dunnen
+/. - c.337C>T r.(?) p.(Arg113*) Both (homozygous) - pathogenic (recessive) g.57858599C>T g.57464816C>T - - GLI1_000002 - PubMed: Palencia-Campos 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS ? Fam3PatVI1/2/7/8 PubMed: Palencia-Campos 2017 6-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 4 Johan den Dunnen
+?/. - c.762+1G>C r.spl p.(?) Unknown ACMG likely pathogenic g.57859709G>C g.57465926G>C GLI1, gene that can display both dominant and recessive patterns of inheritance, c.762+1G>C, p.?, heterozygous - GLI1_000018 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing ? RP-1854 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.816G>A r.(?) p.(Trp272*) Unknown - likely pathogenic g.57860076G>A - GLI1(NM_005269.2):c.816G>A (p.(Trp272*)) - ARHGAP9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.816G>T r.(?) p.(Trp272Cys) Maternal (confirmed) - pathogenic (!) g.57860076G>T g.57466293G>T - - GLI1_000006 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 227 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - 3 Adrian Palencia Campos
+/. - c.816G>T r.(?) p.(Trp272Cys) Paternal (confirmed) - pathogenic (!) g.57860076G>T g.57466293G>T - - GLI1_000006 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 228 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Spain - - - - - 1 Adrian Palencia Campos
+?/. - c.820G>C r.(?) p.(Gly274Arg) Both (homozygous) - likely pathogenic g.57860080G>C g.57466297G>C - - GLI1_000016 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat501 PubMed: Khan 2016 5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives F yes Pakistan - - - - - 8 Johan den Dunnen
+?/. - c.820G>C r.(?) p.(Gly274Arg) Parent #1 - likely pathogenic g.57860080G>C g.57466297G>C - - GLI1_000016 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat502 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.820G>C r.(?) p.(Gly274Arg) Both (homozygous) - likely pathogenic g.57860080G>C g.57466297G>C - - GLI1_000016 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat503 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.820G>C r.(?) p.(Gly274Arg) Both (homozygous) - likely pathogenic g.57860080G>C g.57466297G>C - - GLI1_000016 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat505 PubMed: Khan 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.820G>C r.(?) p.(Gly274Arg) Both (homozygous) - likely pathogenic g.57860080G>C g.57466297G>C - - GLI1_000016 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat507 PubMed: Khan 2016 - F yes Pakistan - - - - - 1 Johan den Dunnen
+?/. - c.820G>C r.(?) p.(Gly274Arg) Parent #1 - likely pathogenic g.57860080G>C g.57466297G>C - - GLI1_000016 - PubMed: Khan 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel retinal disease FamilyPat509 PubMed: Khan 2016 - M yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.847A>T r.(?) p.(Lys283*) Paternal (confirmed) - pathogenic (!) g.57860107A>T g.57466324A>T - - GLI1_000007 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 291 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Turkey - - - - - 1 Adrian Palencia Campos
+/. - c.883C>T r.(?) p.(His295Tyr) Paternal (confirmed) - pathogenic (!) g.57860143C>T g.57466360C>T - - GLI1_000008 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 191 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Spain - - - - - 1 Adrian Palencia Campos
+/. - c.934T>C r.(?) p.(Tyr312His) Unknown - pathogenic (!) g.57861137T>C g.57467354T>C - - GLI1_000009 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Unknown - - - - - DNA SEQ - - PAP 224 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - 1 Adrian Palencia Campos
+/. - c.946G>A r.(?) p.(Glu316Lys) Maternal (confirmed) - pathogenic (!) g.57861149G>A g.57467366G>A - - GLI1_000010 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 292 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - M no Turkey - - - - - 1 Adrian Palencia Campos
+/. - c.968_973del r.(?) p.(Arg323_Ser324del) Maternal (confirmed) - pathogenic (!) g.57861171_57861176del g.57467388_57467393del - - GLI1_000011 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 203 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Turkey - - - - - 1 Adrian Palencia Campos
+/. - c.985_986del r.(?) p.(Lys329Alafs*5) Maternal (confirmed) - pathogenic (!) g.57861188_57861189del g.57467405_57467406del - - GLI1_000012 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 195 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - 1 Adrian Palencia Campos
+?/. 10 c.1133C>T r.(1133c>u) p.(Ser378Leu) Both (homozygous) ACMG likely pathogenic (recessive) g.57861832C>T g.57468049C>T - - GLI1_000019 - - - rs774005775 Germline yes - - - - DNA PCR - - polydactyly - - family affected with polydactyly - yes Pakistan - - - - - 1 Asmat Ullah
+/. - c.1139G>A r.(?) p.(Arg380Gln) Maternal (confirmed) - pathogenic (!) g.57861838G>A g.57468055G>A - - GLI1_000013 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 293 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Turkey - - - - - 1 Adrian Palencia Campos
+/. - c.1288_1291del r.(?) p.(Thr430Cysfs*6) Paternal (confirmed) - pathogenic (!) g.57861987_57861990del g.57468204_57468207del - - GLI1_000014 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 254 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - 1 Adrian Palencia Campos
+?/. - c.1517T>A r.(?) p.(Leu506Gln) Both (homozygous) - likely pathogenic (recessive) g.57863422T>A g.57469639T>A - - GLI1_000005 - PubMed: Ullah 2019 - - Germline yes - - - - DNA SEQ - - ? FamPatIV4/5 PubMed: Ullah 2019 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 2 Johan den Dunnen
-?/. - c.1528C>T r.(?) p.(Arg510Trp) Unknown - likely benign g.57863433C>T - GLI1(NM_001160045.1):c.1144C>T (p.(Arg382Trp)) - ARHGAP9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1930C>T r.(?) p.(Gln644*) Both (homozygous) - pathogenic (recessive) g.57864453C>T g.57470670C>T - - GLI1_000004 - PubMed: Palencia-Campos 2017 - - Germline yes - - - - DNA SEQ - - ? Fam2Pat5/6 PubMed: Palencia-Campos 2017 2-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives; Pat5/6 M yes Turkey - - - - - 4 Johan den Dunnen
+/. - c.2340G>A r.(?) p.(Trp780*) Both (homozygous) - pathogenic (recessive) g.57864863G>A g.57471080G>A - - GLI1_000003 - PubMed: Palencia-Campos 2017 - - Germline yes - - - - DNA SEQ-NG - WES ? Fam2Pat1/2 PubMed: Palencia-Campos 2017 5-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives; pat1/2 M yes Turkey - - - - - 4 Johan den Dunnen
+/. - c.2609_2610del r.(?) p.(Pro870Argfs*14) Paternal (confirmed) - pathogenic (!) g.57865132_57865133del g.57471349_57471350del - - GLI1_000015 variant has reduced disease risk PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - - Germline - - - - - DNA SEQ - - PAP 183 PubMed: Palencia-Campos 2019, Journal: Palencia-Campos 2019 - F no Spain - - - - - 2 Adrian Palencia Campos
-?/. - c.3035G>T r.(?) p.(Gly1012Val) Unknown - likely benign g.57865558G>T - GLI1(NM_001160045.1):c.2651G>T (p.(Gly884Val)) - ARHGAP9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16012C>T r.(=) p.(=) Unknown - likely benign g.57881856C>T g.57488073C>T MARS1(NM_004990.4):c.-18C>T - ARHGAP9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16072G>C r.(=) p.(=) Unknown - VUS g.57881916G>C g.57488133G>C MARS1(NM_004990.4):c.43G>C (p.V15L) - ARHGAP9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16107A>G r.(=) p.(=) Unknown - likely benign g.57881951A>G g.57488168A>G MARS(NM_004990.3):c.78A>G (p.A26=), MARS1(NM_004990.4):c.78A>G (p.A26=) - ARHGAP9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16107A>G r.(=) p.(=) Unknown - likely benign g.57881951A>G - MARS(NM_004990.3):c.78A>G (p.A26=), MARS1(NM_004990.4):c.78A>G (p.A26=) - ARHGAP9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*16948C>T r.(=) p.(=) Unknown - likely benign g.57882792C>T g.57489009C>T MARS1(NM_004990.4):c.110-10C>T - ARHGAP9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*17268A>T r.(=) p.(=) Unknown - VUS g.57883112A>T - MARS1(NM_004990.4):c.263A>T (p.E88V) - ARHGAP9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*17349C>T r.(=) p.(=) Unknown - benign g.57883193C>T g.57489410C>T MARS1(NM_004990.4):c.280-14C>T - MARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17349C>T r.(=) p.(=) Unknown - likely benign g.57883193C>T g.57489410C>T MARS1(NM_004990.4):c.280-14C>T - MARS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17830del r.(?) p.(=) Unknown - likely benign g.57883674del - MARS1(NM_004990.4):c.415-5delC - ARHGAP9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17924A>G r.(=) p.(=) Unknown - likely benign g.57883768A>G g.57489985A>G MARS1(NM_004990.4):c.490+14A>G - MARS_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18272C>T r.(=) p.(=) Unknown - likely benign g.57884116C>T g.57490333C>T MARS(NM_004990.3):c.617C>T (p.P206L), MARS1(NM_004990.4):c.617C>T (p.P206L) - ARHGAP9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18272C>T r.(=) p.(=) Unknown - likely benign g.57884116C>T g.57490333C>T MARS(NM_004990.3):c.617C>T (p.P206L), MARS1(NM_004990.4):c.617C>T (p.P206L) - ARHGAP9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18281G>A r.(=) p.(=) Unknown - likely benign g.57884125G>A g.57490342G>A MARS(NM_004990.4):c.626G>A (p.(Ser209Asn)), MARS1(NM_004990.4):c.626G>A (p.S209N) - ARHGAP9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18281G>A r.(=) p.(=) Unknown - likely benign g.57884125G>A - MARS(NM_004990.4):c.626G>A (p.(Ser209Asn)), MARS1(NM_004990.4):c.626G>A (p.S209N) - ARHGAP9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18285C>T r.(=) p.(=) Unknown - likely benign g.57884129C>T g.57490346C>T MARS1(NM_004990.4):c.630C>T (p.P210=) - ARHGAP9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*18329G>A r.(=) p.(=) Unknown - benign g.57884173G>A - MARS1(NM_004990.4):c.663+11G>A - ARHGAP9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18493C>T r.(=) p.(=) Unknown - likely benign g.57884337C>T g.57490554C>T MARS(NM_004990.4):c.680C>T (p.(Thr227Ile)), MARS1(NM_004990.4):c.680C>T (p.T227I) - ARHGAP9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*18493C>T r.(=) p.(=) Unknown - likely benign g.57884337C>T - MARS(NM_004990.4):c.680C>T (p.(Thr227Ile)), MARS1(NM_004990.4):c.680C>T (p.T227I) - ARHGAP9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*18512T>G r.(=) p.(=) Unknown - VUS g.57884356T>G - MARS1(NM_004990.4):c.699T>G (p.I233M) - ARHGAP9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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