Full data view for gene GLI3

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

270 entries on 3 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 - - - 0 - DNA arraySNP - - GCPS G019 PubMed: Demurger 2015 - - - - - - 0 - - 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 - - - 0 - DNA arraySNP - - GCPS G005 PubMed: Demurger 2015 - - - - - - 0 - - 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 - - - 0 - DNA PCR - - GCPS G028 PubMed: Demurger 2015 - - - - - - 0 - - 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 - - - 0 - DNA FISH - - GCPS G115 PubMed: Demurger 2015 - - - - - - 0 - - 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) - - - 0 - DNA FISH - - GCPS G038 PubMed: Demurger 2015 - - - - - - 0 - - 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) - - - 0 - DNA FISH - - GCPS G059 PubMed: Demurger 2015 - - - - - - 0 - - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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.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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - 0 - DNA SEQ - - GCPS G029 PubMed: Demurger 2015 - - no (France) white - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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.368-19G>A r.(=) p.(=) Unknown - benign g.42116475C>T g.42076876C>T GLI3(NM_000168.5):c.368-19G>A - GLI3_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.427G>T r.(?) p.(Glu143*) Maternal (confirmed) - likely pathogenic g.42116397C>A g.42076798C>A - - GLI3_000003 - PubMed: Demurger 2015 - - Germline yes - - 0 - DNA SEQ - - GCPS G070 PubMed: Demurger 2015 family, 2 affected F no France white - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 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) - - - 0 - DNA SEQ - - GCPS G070 mother PubMed: Demurger 2015 mother - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 4 c.444C>A r.(?) p.(Tyr148*) Parent #1 - likely pathogenic g.42116380G>T g.42076781G>T - - GLI3_000004 - PubMed: Demurger 2015 - - Germline yes - - 0 - DNA SEQ - - GCPS G118 PubMed: Demurger 2015 - M no (France) white - 0 - - 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 - - 0 - DNA SEQ - - GCPS G13684 PubMed: Demurger 2015 family, 3 affected F no - African - 0 - - 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 - - - 0 - DNA SEQ - - GCPS G13684 brother PubMed: Demurger 2015 brother - - - - - 0 - - 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) - - - 0 - DNA SEQ - - GCPS G13684 mother PubMed: Demurger 2015 mother - - - - - 0 - - 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.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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5 c.518dup r.(?) p.(Ile174Hisfs*2) Parent #1 - likely pathogenic g.42088252dup g.42048653dup - - GLI3_000005 - PubMed: Demurger 2015 - - Germline yes - - 0 - DNA SEQ - - GCPS G099 PubMed: Demurger 2015 - F no France white - 0 - - 1 Tania Attie-Bitach
-/. - c.537C>T r.(?) p.(His179=) Unknown - benign g.42088232G>A g.42048633G>A GLI3(NM_000168.5):c.537C>T (p.H179=) - GLI3_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.547A>G r.(?) p.(Thr183Ala) Both (homozygous) - VUS g.42088222T>C g.42048623T>C - - GLI3_000001 - PubMed: Almomani 2011 - rs846266 Germline - - - 0 - DNA SEQ-NG - - - - PubMed: Almomani 2011 - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 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 - - 0 - DNA SEQ - - GCPS G048 PubMed: Demurger 2015 - F no (France) - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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.827-2A>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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - 0 - DNA SEQ - - GCPS G15198 PubMed: Demurger 2015 - F no France white - 0 - - 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_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.844C>A r.(?) p.(Pro282Thr) Unknown - VUS g.42079821G>T g.42040222G>T - - GLI3_000180 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 - - 0 - DNA SEQ - - GCPS G079 PubMed: Demurger 2015 - F no (France) white - 0 - - 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_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - 0 - DNA SEQ - - GCPS G088 PubMed: Demurger 2015 - F no France white 00y08m 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1029-16dup r.(=) p.(=) Unknown - benign g.42066033dup g.42026434dup GLI3(NM_000168.5):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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1063_1067dup r.(?) p.(Leu357Serfs*10) Unknown - likely pathogenic g.42065974_42065978dup g.42026375_42026379dup - - GLI3_000010 - PubMed: Demurger 2015 - - De novo yes - - 0 - DNA SEQ - - GCPS G14083 PubMed: Demurger 2015 - F no France white - 0 - - 1 Tania Attie-Bitach
+/. - c.1096C>T r.(?) p.(Arg366Ter) Unknown - pathogenic g.42065944G>A g.42026345G>A GLI3(NM_000168.5):c.1096C>T (p.R366*) - GLI3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1096C>T r.(?) p.(Arg366Ter) Unknown - pathogenic g.42065944G>A - GLI3(NM_000168.5):c.1096C>T (p.R366*) - GLI3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1207G>A r.(?) p.(Val403Ile) Unknown - likely benign g.42065833C>T - GLI3(NM_000168.5):c.1207G>A (p.V403I) - GLI3_000213 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1242+8G>A r.(=) p.(=) Unknown - likely benign g.42065790C>T g.42026191C>T GLI3(NM_000168.5):c.1242+8G>A (p.(=)) - GLI3_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1242+21C>A r.(=) p.(=) Unknown - benign g.42065777G>T g.42026178G>T GLI3(NM_000168.5):c.1242+21C>A - GLI3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1258_1261del r.(?) p.(Glu420LeufsTer3) Unknown - pathogenic g.42064962_42064965del g.42025363_42025366del GLI3(NM_000168.5):c.1258_1261delGAGT (p.E420Lfs*3) - GLI3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1286dup r.(?) p.(Met430AspfsTer12) Unknown - pathogenic g.42064935dup g.42025336dup GLI3(NM_000168.5):c.1286dupC (p.M430Dfs*12) - GLI3_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1356+11G>C r.(=) p.(=) Unknown - benign g.42064852C>G g.42025253C>G GLI3(NM_000168.6):c.1356+11G>C - GLI3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1357-17C>G r.(=) p.(=) Unknown - likely benign g.42063224G>C g.42023625G>C GLI3(NM_000168.6):c.1357-17C>G - GLI3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1369G>A r.(?) p.(Gly457Arg) Unknown - VUS g.42063195C>T g.42023596C>T GLI3(NM_000168.5):c.1369G>A (p.G457R) - GLI3_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1378del r.(?) p.(Val461Serfs*41) Unknown - likely pathogenic g.42063188del g.42023589del - - GLI3_000011 - PubMed: Demurger 2015 - - Germline yes - - 0 - DNA SEQ - - GCPS G033 PubMed: Demurger 2015 - F no (France) white - 0 - - 1 Tania Attie-Bitach
-?/. - c.1393G>C r.(?) p.(Gly465Arg) Unknown - likely benign g.42063171C>G g.42023572C>G GLI3(NM_000168.5):c.1393G>C (p.G465R, p.(Gly465Arg)) - GLI3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1393G>C r.(?) p.(Gly465Arg) Unknown - likely benign g.42063171C>G g.42023572C>G GLI3(NM_000168.5):c.1393G>C (p.G465R, p.(Gly465Arg)) - GLI3_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1433A>G r.(?) p.(Tyr478Cys) Unknown - VUS g.42063131T>C g.42023532T>C GLI3(NM_000168.5):c.1433A>G (p.Y478C) - GLI3_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1474_1475del r.(?) p.(Asp492HisfsTer11) Unknown - pathogenic g.42063089_42063090del g.42023490_42023491del GLI3(NM_000168.5):c.1474_1475delGA (p.D492Hfs*11) - GLI3_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1497+1G>A r.spl? p.? Unknown - pathogenic g.42063066C>T g.42023467C>T GLI3(NM_000168.5):c.1497+1G>A - GLI3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1497+1G>A r.spl? p.? Unknown - pathogenic g.42063066C>T g.42023467C>T GLI3(NM_000168.5):c.1497+1G>A - GLI3_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1498-1G>C r.spl? p.? Unknown - pathogenic g.42018348C>G g.41978749C>G GLI3(NM_000168.5):c.1498-1G>C - GLI3_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1498C>T r.(?) p.(His500Tyr) Maternal (confirmed) - likely pathogenic g.42018347G>A g.41978748G>A - - GLI3_000012 - PubMed: Demurger 2015 - - Germline yes - - 0 - DNA SEQ - - GCPS G076 PubMed: Demurger 2015 family, 3 affected M no France white - 0 - - 3 Tania Attie-Bitach
+?/. 11 c.1498C>T r.(?) p.(His500Tyr) Unknown - likely pathogenic g.42018347G>A g.41978748G>A - - GLI3_000012 - PubMed: Demurger 2015 - - Germline/De novo (untested) - - - 0 - DNA SEQ - - GCPS G076 mother PubMed: Demurger 2015 mother - - - - - 0 - - 1 Johan den Dunnen
+?/. 11 c.1498C>T r.(?) p.(His500Tyr) Maternal (confirmed) - likely pathogenic g.42018347G>A g.41978748G>A - - GLI3_000012 - PubMed: Demurger 2015 - - Germline - - - 0 - DNA SEQ - - GCPS G076 brother PubMed: Demurger 2015 brother - - - - - 0 - - 1 Johan den Dunnen
-/. - c.1509C>T r.(?) p.(Asn503=) Unknown - benign g.42018336G>A g.41978737G>A GLI3(NM_000168.5):c.1509C>T (p.N503=) - GLI3_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1513dup r.(?) p.(His505ProfsTer47) Unknown - pathogenic g.42018333dup g.41978734dup GLI3(NM_000168.5):c.1513dupC (p.H505Pfs*47) - GLI3_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1543_1544dup r.(?) p.(Arg516Alafs*20) Paternal (confirmed) - likely pathogenic g.42018304_42018305dup g.41978705_41978706dup - - GLI3_000013 - PubMed: Demurger 2015 - - Germline yes - - 0 - DNA SEQ - - GCPS G068 PubMed: Demurger 2015 family, 3 affected M ? France white - 0 - - 3 Tania Attie-Bitach
+?/. 11 c.1543_1544dup r.(?) p.(Arg516Alafs*20) Paternal (confirmed) - likely pathogenic g.42018304_42018305dup g.41978705_41978706dup - - GLI3_000013 - PubMed: Demurger 2015 - - Germline - - - 0 - DNA SEQ - - GCPS G068 brother PubMed: Demurger 2015 brother - - - - - 0 - - 1 Johan den Dunnen
+?/. 11 c.1543_1544dup r.(?) p.(Arg516Alafs*20) Unknown - likely pathogenic g.42018304_42018305dup g.41978705_41978706dup [=/1543_1544dup] - GLI3_000013 somatic mosaicism PubMed: Demurger 2015 - - Somatic - - - 0 - DNA SEQ - - GCPS G068 father PubMed: Demurger 2015 father - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.1559G>A r.(?) p.(Cys520Tyr) Unknown - likely pathogenic g.42018286C>T g.41978687C>T GLI3(NM_000168.5):c.1559G>A (p.C520Y) - GLI3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1559G>T r.(?) p.(Cys520Phe) Unknown - VUS g.42018286C>A g.41978687C>A GLI3(NM_000168.5):c.1559G>T (p.C520F) - GLI3_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1565del r.(?) p.(Arg522LysfsTer13) Unknown - pathogenic g.42018280del g.41978681del GLI3(NM_000168.5):c.1565delG (p.R522Kfs*13) - GLI3_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1622C>T r.(?) p.(Thr541Met) Unknown - VUS g.42018223G>A g.41978624G>A GLI3(NM_000168.5):c.1622C>T (p.T541M) - GLI3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1627G>A r.(?) p.(Glu543Lys) Unknown - VUS g.42018218C>T g.41978619C>T GLI3(NM_000168.5):c.1627G>A (p.E543K) - GLI3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1633C>A r.(?) p.(Pro545Thr) Unknown - VUS g.42018212G>T g.41978613G>T GLI3(NM_000168.5):c.1633C>A (p.P545T) - GLI3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1647+2T>A r.spl? p.? Unknown - pathogenic g.42018196A>T g.41978597A>T GLI3(NM_000168.5):c.1647+2T>A - GLI3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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