Full data view for gene GLI3

Information The variants shown are described using the NM_000168.5 transcript reference sequence.

387 entries on 4 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     
+?/. _1_15_ c.-91_*3381{0} r.0 p.0 Unknown - likely pathogenic g.(35674000_37280000)_(46116000_46598000)del - chr7.hg19:g.(35 674 000_37 280 000)_(46 116 000_46 598 000)del - EZH2_000001 - PubMed: Demurger 2015 - - De novo - - - - - DNA arraySNP - - GCPS G019 PubMed: Demurger 2015 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-91_*3381{0} r.0 p.0 Unknown - likely pathogenic g.(?_38521704)_(45810267_?)del - chr7.hg19:g(38521704_45810267)del - EZH2_000001 - PubMed: Demurger 2015 - - De novo - - - - - DNA arraySNP - - GCPS G005 PubMed: Demurger 2015 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-91_*3381{0} r.0 p.0 Unknown - likely pathogenic g.? - rsa7p14.1(kit P179)x1 - EZH2_000001 - PubMed: Demurger 2015 - - Germline - - - - - DNA PCR - - GCPS G028 PubMed: Demurger 2015 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-91_*3381{0} r.0 p.0 Unknown - likely pathogenic g.? - 46,XY.ish del(7)(p14.1)(RP11-816F16-) - EZH2_000001 - PubMed: Demurger 2015 - - Germline - - - - - DNA FISH - - GCPS G115 PubMed: Demurger 2015 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-91_*3381{0} r.0 p.0 Unknown - likely pathogenic g.? - 46,XX.ish del(7)(p14.1p14.1)(GLI3-) - EZH2_000001 - PubMed: Demurger 2015 - - Germline/De novo (untested) - - - - - DNA FISH - - GCPS G038 PubMed: Demurger 2015 - - - - - - - - - 1 Johan den Dunnen
+?/. _1_15_ c.-91_*3381{0} r.0 p.0 Unknown - likely pathogenic g.? - 46,XY.ish del(7)(p14.1)(GLI3-)[56]/7p14.1(GLI3x2)[44] - EZH2_000001 - PubMed: Demurger 2015 - - Germline/De novo (untested) - - - - - DNA FISH - - GCPS G059 PubMed: Demurger 2015 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.-68G>A r.(=) p.(=) Parent #1 - likely benign g.42276595C>T g.42236996C>T - - GLI3_000196 176 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113629469 Germline - 176/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 176 Mohammed Faruq
-?/. - c.-68G>A r.(=) p.(=) Both (homozygous) - likely benign g.42276595C>T g.42236996C>T - - GLI3_000196 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs113629469 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-/. - c.-42-11G>C r.(=) p.(=) Unknown - benign g.42262905C>G g.42223306C>G GLI3(NM_000168.5):c.-42-11G>C, GLI3(NM_000168.6):c.-42-11G>C - GLI3_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-42-11G>C r.(=) p.(=) Unknown - benign g.42262905C>G g.42223306C>G GLI3(NM_000168.5):c.-42-11G>C, GLI3(NM_000168.6):c.-42-11G>C - GLI3_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-42-4T>C r.spl? p.? Unknown - likely benign g.42262898A>G - GLI3(NM_000168.6):c.-42-4T>C - GLI3_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.124+33122_124+33123insTT r.(=) p.(=) Unknown - likely benign g.42229607_42229608insAA - GLI3(NM_000168.6):c.124+33122_124+33123insTT - GLI3_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125-24113G>A r.(=) p.(=) Unknown - benign g.42212180C>T g.42172581C>T GLI3(NM_000168.6):c.125-24113G>A - GLI3_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.125-47C>A r.= p.= Unknown ACMG VUS g.42188114G>T g.42148515G>T - - GLI3_000246 - PubMed: Guo 2023 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ - - polydactyly Pat3 PubMed: Guo 2023 - M - China - - - - - 1 Johan den Dunnen
-?/. - c.168C>T r.(?) p.(Asn56=) Unknown - likely benign g.42188024G>A g.42148425G>A GLI3(NM_000168.5):c.168C>T (p.N56=) - GLI3_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.169G>A r.(?) p.(Ala57Thr) Unknown - VUS g.42188023C>T - GLI3(NM_000168.6):c.169G>A (p.A57T) - GLI3_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.211G>A r.(?) p.(Val71Ile) Unknown - benign g.42187981C>T g.42148382C>T GLI3(NM_000168.5):c.211G>A (p.V71I), GLI3(NM_000168.6):c.211G>A (p.V71I) - GLI3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.211G>A r.(?) p.(Val71Ile) Unknown - likely benign g.42187981C>T g.42148382C>T GLI3(NM_000168.5):c.211G>A (p.V71I), GLI3(NM_000168.6):c.211G>A (p.V71I) - GLI3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235A>T r.(?) p.(Ser79Cys) Unknown - likely benign g.42187957T>A - GLI3(NM_000168.5):c.235A>T (p.(Ser79Cys)) - GLI3_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.241G>A r.(?) p.(Glu81Lys) Unknown - VUS g.42187951C>T - GLI3(NM_000168.6):c.241G>A (p.E81K) - GLI3_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250T>C r.(?) p.(Ser84Pro) Unknown - VUS g.42187942A>G g.42148343A>G GLI3(NM_000168.5):c.250T>C (p.(Ser84Pro)) - GLI3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295del r.(?) p.(Glu99SerfsTer60) Unknown - pathogenic g.42187898del g.42148299del GLI3(NM_000168.5):c.295delG (p.E99Sfs*60) - GLI3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.308C>T r.(?) p.(Pro103Leu) Unknown - VUS g.42187884G>A - GLI3(NM_000168.5):c.308C>T (p.(Pro103Leu)) - GLI3_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>T r.(?) p.(=) Unknown - likely benign g.42187883C>A - GLI3(NM_000168.6):c.309G>T (p.(Pro103=)) - GLI3_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.314G>A r.(?) p.(Arg105His) Unknown - VUS g.42187878C>T g.42148279C>T GLI3(NM_000168.5):c.314G>A (p.R105H) - GLI3_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.327del r.(?) p.(Phe109Leufs*50) Maternal (inferred) - likely pathogenic g.42187867del g.42148268del - - GLI3_000002 - PubMed: Demurger 2015 - - Germline yes - - - - DNA SEQ - - GCPS G029 PubMed: Demurger 2015 - - no (France) white - - - - 1 Tania Attie-Bitach
-?/. - c.341G>A r.(?) p.(Arg114Lys) Unknown - likely benign g.42187851C>T g.42148252C>T GLI3(NM_000168.5):c.341G>A (p.R114K, p.(Arg114Lys)), GLI3(NM_000168.6):c.341G>A (p.R114K) - GLI3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341G>A r.(?) p.(Arg114Lys) Unknown - VUS g.42187851C>T g.42148252C>T GLI3(NM_000168.5):c.341G>A (p.R114K, p.(Arg114Lys)), GLI3(NM_000168.6):c.341G>A (p.R114K) - GLI3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.341G>A r.(?) p.(Arg114Lys) Unknown - benign g.42187851C>T g.42148252C>T GLI3(NM_000168.5):c.341G>A (p.R114K, p.(Arg114Lys)), GLI3(NM_000168.6):c.341G>A (p.R114K) - GLI3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341G>A r.(?) p.(Arg114Lys) Unknown - likely benign g.42187851C>T g.42148252C>T GLI3(NM_000168.5):c.341G>A (p.R114K, p.(Arg114Lys)), GLI3(NM_000168.6):c.341G>A (p.R114K) - GLI3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341G>A r.(?) p.(Arg114Lys) Unknown - likely benign g.42187851C>T - GLI3(NM_000168.5):c.341G>A (p.R114K, p.(Arg114Lys)), GLI3(NM_000168.6):c.341G>A (p.R114K) - GLI3_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.363C>T r.(?) p.(His121=) Unknown - likely benign g.42187829G>A - GLI3(NM_000168.6):c.363C>T (p.H121=) - GLI3_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.367+1G>A r.spl? p.? Unknown - likely pathogenic g.42187824C>T - GLI3(NM_000168.6):c.367+1G>A - GLI3_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.367+7G>A r.(=) p.(=) Unknown - likely benign g.42187818C>T - GLI3(NM_000168.6):c.367+7G>A - GLI3_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.367+19C>T r.(=) p.(=) Unknown - benign g.42187806G>A - GLI3(NM_000168.6):c.367+19C>T - GLI3_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.368-19G>A r.(=) p.(=) Unknown - benign g.42116475C>T g.42076876C>T GLI3(NM_000168.5):c.368-19G>A, GLI3(NM_000168.6):c.368-19G>A - GLI3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.368-19G>A r.(=) p.(=) Unknown - benign g.42116475C>T - GLI3(NM_000168.5):c.368-19G>A, GLI3(NM_000168.6):c.368-19G>A - GLI3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.427G>T r.(?) p.(Glu143*) Maternal (confirmed) - likely pathogenic g.42116397C>A g.42076798C>A - - GLI3_000003 - PubMed: Demurger 2015 - - Germline yes - - - - DNA SEQ - - GCPS G070 PubMed: Demurger 2015 family, 2 affected F no France white - - - - 2 Tania Attie-Bitach
+/. - c.427G>T r.(?) p.(Glu143Ter) Unknown - pathogenic g.42116397C>A g.42076798C>A GLI3(NM_000168.5):c.427G>T (p.E143*) - GLI3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.427G>T r.(?) p.(Glu143*) Unknown - likely pathogenic g.42116397C>A g.42076798C>A - - GLI3_000003 - PubMed: Demurger 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - GCPS G070 mother PubMed: Demurger 2015 mother - - - - - - - - 1 Johan den Dunnen
+/. - c.438C>G r.(?) p.(Tyr146Ter) Unknown - pathogenic g.42116386G>C g.42076787G>C GLI3(NM_000168.5):c.438C>G (p.Y146*) - GLI3_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.444C>A r.(?) p.(Tyr148*) Parent #1 - likely pathogenic g.42116380G>T g.42076781G>T - - GLI3_000004 - PubMed: Demurger 2015 - - Germline yes - - - - DNA SEQ - - GCPS G118 PubMed: Demurger 2015 - M no (France) white - - - - 1 Tania Attie-Bitach
+?/. 4 c.444C>A r.(?) p.(Tyr148*) Unknown - likely pathogenic g.42116380G>T g.42076781G>T - - GLI3_000004 - PubMed: Demurger 2015 - - Germline yes - - - - DNA SEQ - - GCPS G13684 PubMed: Demurger 2015 family, 3 affected F no - African - - - - 3 Tania Attie-Bitach
+?/. 4 c.444C>A r.(?) p.(Tyr148*) Maternal (confirmed) - likely pathogenic g.42116380G>T g.42076781G>T - - GLI3_000004 - PubMed: Demurger 2015 - - Germline - - - - - DNA SEQ - - GCPS G13684 brother PubMed: Demurger 2015 brother - - - - - - - - 1 Johan den Dunnen
+?/. 4 c.444C>A r.(?) p.(Tyr148*) Unknown - likely pathogenic g.42116380G>T g.42076781G>T - - GLI3_000004 - PubMed: Demurger 2015 - - Germline/De novo (untested) - - - - - DNA SEQ - - GCPS G13684 mother PubMed: Demurger 2015 mother - - - - - - - - 1 Johan den Dunnen
-?/. - c.444C>T r.(?) p.(Tyr148=) Unknown - likely benign g.42116380G>A - GLI3(NM_000168.5):c.444C>T (p.Y148=) - GLI3_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.473+1G>A r.spl? p.? Unknown - pathogenic g.42116350C>T g.42076751C>T GLI3(NM_000168.5):c.473+1G>A - GLI3_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.473+5G>A r.spl? p.? Unknown - likely pathogenic g.42116346C>T - GLI3(NM_000168.6):c.473+5G>A - GLI3_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.473+5G>A r.368_473del p.His123Argfs*58 Unknown - pathogenic (dominant) g.42116346C>T g.42076747C>T - - GLI3_000225 transcripts cycloheximide sensitive PubMed: Bournazos 2022 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG-RNA fibroblasts singleton WES ? A064 PubMed: Bournazos 2022 family, 1 affected - - Australia - - - - - 1 Johan den Dunnen
+?/. 4i c.473+5G>C r.[368_473del,=] p.[His123ArgfsTer58,=] Unknown - likely pathogenic g.42116346C>G g.42076747C>G - - GLI3_000275 effect on RNA exon skipping - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
-?/. - c.480C>T r.(?) p.(Ser160=) Unknown - likely benign g.42088289G>A g.42048690G>A GLI3(NM_000168.5):c.480C>T (p.S160=) - GLI3_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.485T>A r.(?) p.(Leu162Ter) Unknown - pathogenic g.42088284A>T g.42048685A>T GLI3(NM_000168.5):c.485T>A (p.L162*) - GLI3_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.500C>T r.(?) p.(Thr167Met) Unknown - VUS g.42088269G>A - GLI3(NM_000168.6):c.500C>T (p.(Thr167Met)) - GLI3_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.507G>A r.(?) p.(Pro169=) Unknown - VUS g.42088262C>T - GLI3(NM_000168.5):c.507G>A (p.P169=) - GLI3_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.518dup r.(?) p.(Ile174Hisfs*2) Parent #1 - likely pathogenic g.42088252dup g.42048653dup - - GLI3_000005 - PubMed: Demurger 2015 - - Germline yes - - - - DNA SEQ - - GCPS G099 PubMed: Demurger 2015 - F no France white - - - - 1 Tania Attie-Bitach
?/. - c.520A>G r.(?) p.(Ile174Val) Unknown - VUS g.42088249T>C - GLI3(NM_000168.6):c.520A>G (p.I174V) - GLI3_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537C>T r.(?) p.(His179=) Unknown - benign g.42088232G>A g.42048633G>A GLI3(NM_000168.5):c.537C>T (p.H179=), GLI3(NM_000168.6):c.537C>T (p.H179=) - GLI3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537C>T r.(?) p.(His179=) Unknown - benign g.42088232G>A - GLI3(NM_000168.5):c.537C>T (p.H179=), GLI3(NM_000168.6):c.537C>T (p.H179=) - GLI3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539G>A r.(?) p.(Arg180Gln) Unknown - VUS g.42088230C>T - GLI3(NM_000168.5):c.539G>A (p.(Arg180Gln)) - GLI3_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.547A>G r.(?) p.(Thr183Ala) Both (homozygous) - VUS g.42088222T>C g.42048623T>C - - GLI3_000001 - PubMed: Almomani 2011 - rs846266 Germline - - - - - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.547A>G r.(?) p.(Thr183Ala) Unknown - benign g.42088222T>C g.42048623T>C GLI3(NM_000168.5):c.547A>G (p.T183A), GLI3(NM_000168.6):c.547A>G (p.T183A) - GLI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.547A>G r.(?) p.(Thr183Ala) Unknown - benign g.42088222T>C g.42048623T>C GLI3(NM_000168.5):c.547A>G (p.T183A), GLI3(NM_000168.6):c.547A>G (p.T183A) - GLI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.547A>G r.(?) p.(Thr183Ala) Unknown - benign g.42088222T>C g.42048623T>C GLI3(NM_000168.5):c.547A>G (p.T183A), GLI3(NM_000168.6):c.547A>G (p.T183A) - GLI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.547A>G r.(?) p.(Thr183Ala) Unknown - benign g.42088222T>C - GLI3(NM_000168.5):c.547A>G (p.T183A), GLI3(NM_000168.6):c.547A>G (p.T183A) - GLI3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.559G>T r.(?) p.(Glu187Ter) Unknown - pathogenic g.42088210C>A g.42048611C>A GLI3(NM_000168.5):c.559G>T (p.E187*) - GLI3_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.565C>T r.(?) p.(Pro189Ser) Unknown - likely benign g.42088204G>A - GLI3(NM_000168.6):c.565C>T (p.P189S) - GLI3_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.583C>A r.(?) p.(Pro195Thr) Unknown - VUS g.42088186G>T g.42048587G>T GLI3(NM_000168.5):c.583C>A (p.(Pro195Thr)) - GLI3_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641C>T r.(?) p.(Ser214Phe) Unknown - VUS g.42088128G>A - GLI3(NM_000168.5):c.641C>T (p.(Ser214Phe)) - GLI3_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.642del r.(?) p.(Met215Ter) Unknown - pathogenic g.42088128del g.42048529del GLI3(NM_000168.6):c.642delC (p.M215*) - GLI3_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.643A>G r.(?) p.(Met215Val) Unknown - likely benign g.42088126T>C - GLI3(NM_000168.5):c.643A>G (p.(Met215Val)) - GLI3_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.679+1G>T r.spl p.? Unknown - likely pathogenic g.42088089C>A g.42048490C>A - - GLI3_000006 - PubMed: Demurger 2015 - - De novo yes - - - - DNA SEQ - - GCPS G048 PubMed: Demurger 2015 - F no (France) - - - - - 1 Tania Attie-Bitach
-/. - c.680-25C>T r.(=) p.(=) Unknown - benign g.42085154G>A g.42045555G>A GLI3(NM_000168.5):c.680-25C>T - GLI3_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716A>G r.(?) p.(His239Arg) Unknown - VUS g.42085093T>C g.42045494T>C GLI3(NM_000168.5):c.716A>G (p.H239R) - GLI3_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.733del r.(?) p.(Thr245LeufsTer65) Unknown - pathogenic g.42085077del g.42045478del GLI3(NM_000168.5):c.733delA (p.T245Lfs*65) - GLI3_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.742C>A r.(?) p.(Arg248Ser) Unknown - VUS g.42085067G>T - GLI3(NM_000168.6):c.742C>A (p.(Arg248Ser)) - GLI3_000252 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.819_820delinsC r.(?) p.(Met274TrpfsTer36) Unknown - pathogenic g.42084989_42084990delinsG g.42045390_42045391delinsG GLI3(NM_000168.5):c.819_820delTAinsC (p.M274Wfs*36) - GLI3_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.827-14dup r.(=) p.(=) Unknown - benign g.42079857dup g.42040258dup GLI3(NM_000168.5):c.827-14dupT - GLI3_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.827-9A>G r.(=) p.(=) Unknown - VUS g.42079847T>C - GLI3(NM_000168.6):c.827-9A>G - GLI3_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.827-2A>G r.spl? p.? Unknown - pathogenic g.42079840T>C g.42040241T>C GLI3(NM_000168.5):c.827-2A>G - GLI3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.827-1G>A r.spl? p.? Unknown - pathogenic g.42079839C>T - GLI3(NM_000168.5):c.827-1G>A - GLI3_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.833_843del r.(?) p.(Arg278Thrfs*22) Parent #1 - likely pathogenic g.42079822_42079832del g.42040223_42040233del - - GLI3_000007 - PubMed: Demurger 2015 - - Germline yes - - - - DNA SEQ - - GCPS G15198 PubMed: Demurger 2015 - F no France white - - - - 1 Tania Attie-Bitach
-/. - c.840C>G r.(?) p.(Ser280=) Unknown - benign g.42079825G>C g.42040226G>C GLI3(NM_000168.5):c.840C>G (p.S280=), GLI3(NM_000168.6):c.840C>G (p.S280=) - GLI3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.840C>G r.(?) p.(Ser280=) Unknown - benign g.42079825G>C - GLI3(NM_000168.5):c.840C>G (p.S280=), GLI3(NM_000168.6):c.840C>G (p.S280=) - GLI3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844C>A r.(?) p.(Pro282Thr) Unknown - VUS g.42079821G>T g.42040222G>T - - GLI3_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.846dup r.(?) p.(Arg283Glnfs*21) Paternal (confirmed) ACMG pathogenic (dominant) g.42079822dup g.42040223dup c.846_c.847insC - GLI3_000245 ACMG PVS1, PM2 PubMed: Guo 2023 - - Germline yes - - - - DNA SEQ - - polydactyly Fam2Pat2 PubMed: Guo 2023 2-generation family, affected father/son M no China - - - - - 2 Johan den Dunnen
-?/. - c.863C>T r.(?) p.(Pro288Leu) Unknown - likely benign g.42079802G>A - GLI3(NM_000168.6):c.863C>T (p.(Pro288Leu)) - GLI3_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.868C>T r.(?) p.(Arg290*) Unknown - likely pathogenic g.42079797G>A g.42040198G>A - - GLI3_000008 - PubMed: Demurger 2015 - - De novo yes - - - - DNA SEQ - - GCPS G079 PubMed: Demurger 2015 - F no (France) white - - - - 1 Tania Attie-Bitach
+/. - c.868C>T r.(?) p.(Arg290Ter) Unknown - pathogenic g.42079797G>A g.42040198G>A GLI3(NM_000168.5):c.868C>T (p.R290*), GLI3(NM_000168.6):c.868C>T (p.R290*) - GLI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.868C>T r.(?) p.(Arg290Ter) Unknown - pathogenic g.42079797G>A - GLI3(NM_000168.5):c.868C>T (p.R290*), GLI3(NM_000168.6):c.868C>T (p.R290*) - GLI3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.891_892dup r.(?) p.(Pro298HisfsTer13) Unknown - pathogenic g.42079774_42079775dup g.42040175_42040176dup GLI3(NM_000168.5):c.891_892dupAC (p.P298Hfs*13) - GLI3_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.900C>T r.(?) p.(Ser300=) Unknown - benign g.42079765G>A g.42040166G>A GLI3(NM_000168.5):c.900C>T (p.S300=), GLI3(NM_000168.6):c.900C>T (p.S300=) - GLI3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.900C>T r.(?) p.(Ser300=) Unknown - benign g.42079765G>A - GLI3(NM_000168.5):c.900C>T (p.S300=), GLI3(NM_000168.6):c.900C>T (p.S300=) - GLI3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.974_978dup r.(?) p.(Ser327ValfsTer22) Unknown - pathogenic g.42079688_42079692dup - - - GLI3_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.997_998dup r.(?) p.(Tyr334Profs*14) Unknown - likely pathogenic g.42079668_42079669dup g.42040069_42040070dup - - GLI3_000009 - PubMed: Demurger 2015 - - De novo yes - - - - DNA SEQ - - GCPS G088 PubMed: Demurger 2015 - F no France white 00y08m - - - 1 Tania Attie-Bitach
-/. - c.1028+15G>A r.(=) p.(=) Unknown - benign g.42079622C>T g.42040023C>T GLI3(NM_000168.5):c.1028+15G>A - GLI3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1029-2092G>A r.(=) p.(=) Unknown - VUS g.42068103C>T - GLI3(NM_000168.6):c.1029-2092G>A - GLI3_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029-16dup r.(=) p.(=) Unknown - benign g.42066033dup g.42026434dup GLI3(NM_000168.5):c.1029-16dupT, GLI3(NM_000168.6):c.1029-16dupT - GLI3_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029-16dup r.(=) p.(=) Unknown - benign g.42066033dup - GLI3(NM_000168.5):c.1029-16dupT, GLI3(NM_000168.6):c.1029-16dupT - GLI3_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029-11C>T r.(=) p.(=) Unknown - benign g.42066022G>A g.42026423G>A GLI3(NM_000168.6):c.1029-11C>T - GLI3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029-11C>T r.(=) p.(=) Unknown - benign g.42066022G>A - GLI3(NM_000168.6):c.1029-11C>T - GLI3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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