Full data view for gene GLI2

Information The variants shown are described using the NM_005270.4 transcript reference sequence.

137 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

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.-7G>A r.(?) p.(=) - Unknown - benign g.121554890G>A g.120797314G>A GLI2(NM_005270.4):c.-7G>A - GLI2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7G>A r.(?) p.(=) - Unknown - benign g.121554890G>A g.120797314G>A GLI2(NM_005270.4):c.-7G>A - GLI2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.30C>T r.(?) p.(Ser10=) - Unknown - likely benign g.121554926C>T g.120797350C>T GLI2(NM_005270.4):c.30C>T (p.S10=) - GLI2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.67G>A r.(?) p.(Ala23Thr) - Unknown - likely benign g.121554963G>A g.120797387G>A GLI2(NM_005270.4):c.67G>A (p.A23T) - GLI2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148+5T>C r.spl? p.? - Unknown - likely benign g.121555049T>C g.120797473T>C GLI2(NM_005270.4):c.148+5T>C (, p.?) - GLI2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148+5T>C r.spl? p.? - Unknown - likely benign g.121555049T>C - GLI2(NM_005270.4):c.148+5T>C (, p.?) - GLI2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148+5T>C r.spl? p.? - Unknown - likely benign g.121555049T>C - GLI2(NM_005270.4):c.148+5T>C (, p.?) - GLI2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.148+4297T>C r.(=) p.(=) - Both (homozygous) - VUS g.121559341T>C g.120801765T>C - - GLI2_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.199C>T r.(?) p.(Arg67Ter) - Unknown - pathogenic g.121684987C>T g.120927411C>T - - GLI2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.254+66C>T r.(=) p.(=) - Unknown - benign g.121685108C>T g.120927532C>T - - GLI2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.255-17G>T r.(=) p.(=) - Unknown - benign g.121708802G>T g.120951226G>T - - GLI2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.321G>A r.(?) p.(Pro107=) - Unknown - VUS g.121708885G>A g.120951309G>A - - GLI2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.342C>T r.(?) p.(Pro114=) - Unknown - benign g.121708906C>T g.120951330C>T GLI2(NM_005270.4):c.342C>T (p.P114=) - GLI2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.349G>A r.(?) p.(Ala117Thr) - Unknown - likely pathogenic g.121708913G>A g.120951337G>A - - GLI2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.391C>T r.(?) p.(Arg131Cys) - Unknown - likely benign g.121708955C>T g.120951379C>T GLI2(NM_005270.4):c.391C>T (p.R131C) - GLI2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.392G>A r.(?) p.(Arg131His) - Maternal (confirmed) - pathogenic g.121708956G>A g.120951380G>A - - GLI2_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents F - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
?/. - c.454G>A r.(?) p.(Asp152Asn) - Unknown - VUS g.121709018G>A g.120951442G>A - - GLI2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.562del r.(?) p.(Ala188Argfs*7) - Parent #1 ACMG likely pathogenic g.121712925del g.120955349del 562delG - GLI2_000109 has VUS in PTCH1 PubMed: Helbig 2016 - - Germline - - - 0 - DNA SEQ-NG - WES seizures Pat68 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.563C>T r.(?) p.(Ala188Val) - Unknown - likely benign g.121712926C>T g.120955350C>T GLI2(NM_005270.4):c.563C>T (p.(Ala188Val)) - GLI2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564G>A r.(?) p.(Ala188=) - Unknown - benign g.121712927G>A g.120955351G>A GLI2(NM_005270.4):c.564G>A (p.A188=) - GLI2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.571G>A r.(?) p.(Gly191Arg) substitution Paternal (confirmed) - likely benign g.121712934G>A g.120955358G>A - - GLI2_000031 - Papuc et al., submitted - rs202141899 Germline - - - 0 - DNA SEQ-NG-I blood WES EE 73704 - - F - - - - 0 - - 1 Anaïs Begemann
?/. - c.571G>A r.(?) p.(Gly191Arg) - Unknown - VUS g.121712934G>A - GLI2(NM_005270.4):c.571G>A (p.G191R) - GLI2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.598G>A r.(?) p.(Ala200Thr) - Unknown - likely benign g.121712961G>A g.120955385G>A GLI2(NM_005270.4):c.598G>A (p.A200T) - GLI2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598G>A r.(?) p.(Ala200Thr) - Unknown - VUS g.121712961G>A g.120955385G>A GLI2(NM_005270.4):c.598G>A (p.A200T) - GLI2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607G>A r.(?) p.(Ala203Thr) - Unknown - likely benign g.121712970G>A g.120955394G>A GLI2(NM_005270.4):c.607G>A (p.A203T) - GLI2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.643+16C>G r.(=) p.(=) - Unknown - benign g.121713022C>G g.120955446C>G GLI2(NM_005270.4):c.643+16C>G - GLI2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.643+16C>G r.(=) p.(=) - Unknown - benign g.121713022C>G g.120955446C>G GLI2(NM_005270.4):c.643+16C>G - GLI2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650G>A r.(?) p.(Arg217His) - Unknown - VUS g.121726296G>A g.120968720G>A - - GLI2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.662C>T r.(?) p.(Pro221Leu) - Unknown - likely pathogenic g.121726308C>T g.120968732C>T - - GLI2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.677G>A r.(?) p.(Arg226His) - Unknown - VUS g.121726323G>A g.120968747G>A GLI2(NM_005270.4):c.677G>A (p.R226H) - GLI2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.695C>T r.(?) p.(Ala232Val) - Unknown - VUS g.121726341C>T g.120968765C>T GLI2(NM_005270.4):c.695C>T (p.A232V) - GLI2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696G>A r.(?) p.(Ala232=) - Unknown - likely benign g.121726342G>A g.120968766G>A GLI2(NM_005270.4):c.696G>A (p.A232=) - GLI2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.720C>T r.(?) p.(Asp240=) - Unknown - benign g.121726366C>T g.120968790C>T GLI2(NM_005270.4):c.720C>T (p.D240=) - GLI2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.720C>T r.(?) p.(Asp240=) - Unknown - benign g.121726366C>T g.120968790C>T GLI2(NM_005270.4):c.720C>T (p.D240=) - GLI2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.740G>A r.(?) p.(Arg247Gln) - Unknown - likely benign g.121726386G>A g.120968810G>A - - GLI2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781A>T r.(?) p.(Asn261Tyr) - Unknown - VUS g.121726427A>T g.120968851A>T GLI2(NM_005270.4):c.781A>T (p.N261Y) - GLI2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.801G>A r.(?) p.(Ser267=) - Unknown - benign g.121726447G>A g.120968871G>A GLI2(NM_005270.4):c.801G>A (p.S267=) - GLI2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.801G>A r.(?) p.(Ser267=) - Unknown - benign g.121726447G>A g.120968871G>A GLI2(NM_005270.4):c.801G>A (p.S267=) - GLI2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.818A>T r.(?) p.(Tyr273Phe) - Unknown - VUS g.121726464A>T - - - GLI2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.845+10G>A r.(=) p.(=) - Unknown - benign g.121726501G>A g.120968925G>A GLI2(NM_005270.4):c.845+10G>A - GLI2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.963C>G r.(?) p.(Pro321=) - Unknown - benign g.121728086C>G g.120970510C>G GLI2(NM_005270.4):c.963C>G (p.P321=) - GLI2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.963C>G r.(?) p.(Pro321=) - Unknown - benign g.121728086C>G g.120970510C>G GLI2(NM_005270.4):c.963C>G (p.P321=) - GLI2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1083C>T r.(?) p.(Ala361=) - Unknown - likely benign g.121729540C>T g.120971964C>T GLI2(NM_005270.4):c.1083C>T (p.A361=) - GLI2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1231C>T r.(?) p.(Gln411Ter) - Unknown - pathogenic g.121732548C>T - GLI2(NM_005270.4):c.1231C>T (p.Q411*) - GLI2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311C>A r.(?) p.(Thr437=) - Unknown - likely benign g.121732628C>A g.120975052C>A - - GLI2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1311C>T r.(?) p.(Thr437=) - Unknown - benign g.121732628C>T g.120975052C>T - - GLI2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1392C>T r.(?) p.(His464=) - Unknown - likely benign g.121736033C>T g.120978457C>T GLI2(NM_001371271.1):c.1392C>T (p.H464=) - GLI2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1428C>T r.(?) p.(Ala476=) - Unknown - likely benign g.121736069C>T g.120978493C>T GLI2(NM_005270.4):c.1428C>T (p.A476=) - GLI2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1518G>A r.(?) p.(Thr506=) - Unknown - VUS g.121736159G>A g.120978583G>A GLI2(NM_005270.4):c.1518G>A (p.T506=) - GLI2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1518+14T>C r.(=) p.(=) - Unknown - likely benign g.121736173T>C g.120978597T>C GLI2(NM_005270.4):c.1518+14T>C - GLI2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1518+19A>C r.(=) p.(=) - Unknown - likely benign g.121736178A>C g.120978602A>C GLI2(NM_005270.4):c.1518+19A>C - GLI2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1683+9G>A r.(=) p.(=) - Unknown - likely benign g.121740465G>A - GLI2(NM_005270.4):c.1683+9G>A - GLI2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1684-17C>T r.(=) p.(=) - Unknown - benign g.121742030C>T - GLI2(NM_001371271.1):c.1684-17C>T - GLI2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1684-5C>T r.spl? p.? - Unknown - likely benign g.121742042C>T g.120984466C>T GLI2(NM_005270.4):c.1684-5C>T - GLI2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1684-4C>G r.spl? p.? - Unknown - likely benign g.121742043C>G g.120984467C>G GLI2(NM_005270.4):c.1684-4C>G - GLI2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1684-4C>G r.spl? p.? - Unknown - likely benign g.121742043C>G g.120984467C>G GLI2(NM_005270.4):c.1684-4C>G - GLI2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1745G>A r.(?) p.(Arg582Gln) - Unknown - VUS g.121742108G>A g.120984532G>A - - GLI2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1761G>A r.(?) p.(Thr587=) - Unknown - benign g.121742124G>A g.120984548G>A GLI2(NM_005270.4):c.1761G>A (p.T587=) - GLI2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1799G>A r.(?) p.(Arg600His) - Unknown - VUS g.121742162G>A g.120984586G>A - - GLI2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1859C>T r.(?) p.(Thr620Met) - Unknown - benign g.121742222C>T g.120984646C>T GLI2(NM_005270.4):c.1859C>T (p.T620M) - GLI2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1885G>A r.(?) p.(Glu629Lys) - Parent #1 - pathogenic g.121742248G>A g.120984672G>A - - GLI2_000104 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs387907277 Germline - 3/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 3 Mohammed Faruq
+/. - c.1908dup r.(?) p.(Val637ArgfsTer42) - Unknown - pathogenic g.121742271dup g.120984695dup - - GLI2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1933G>A r.(?) p.(Ala645Thr) - Unknown - VUS g.121742296G>A g.120984720G>A GLI2(NM_005270.4):c.1933G>A (p.A645T) - GLI2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1944C>T r.(?) p.(Thr648=) - Unknown - benign g.121742307C>T g.120984731C>T GLI2(NM_005270.4):c.1944C>T (p.T648=) - GLI2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1944C>T r.(=) p.(=) - Parent #1 - likely benign g.121742307C>T g.120984731C>T - - GLI2_000055 15 heterozygous; Clinindb (India) Faruq 2020, submtted - rs13008360 Germline - 15/2786 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 15 Mohammed Faruq
-?/. - c.1944C>T r.(=) p.(=) - Both (homozygous) - likely benign g.121742307C>T g.120984731C>T - - GLI2_000055 1 homozygous; Clinindb (India) Faruq 2020, submtted - rs13008360 Germline - 1/2786 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, subitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.1986G>A r.(?) p.(Ser662=) - Unknown - likely benign g.121743883G>A g.120986307G>A GLI2(NM_005270.4):c.1986G>A (p.S662=) - GLI2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1986G>A r.(?) p.(Ser662=) - Unknown - benign g.121743883G>A g.120986307G>A GLI2(NM_005270.4):c.1986G>A (p.S662=) - GLI2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2085G>A r.(?) p.(Thr695=) - Unknown - likely benign g.121743982G>A g.120986406G>A GLI2(NM_001371271.1):c.2085G>A (p.T695=), GLI2(NM_005270.4):c.2085G>A (p.T695=) - GLI2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2085G>A r.(?) p.(Thr695=) - Unknown - likely benign g.121743982G>A g.120986406G>A GLI2(NM_001371271.1):c.2085G>A (p.T695=), GLI2(NM_005270.4):c.2085G>A (p.T695=) - GLI2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2085G>A r.(?) p.(Thr695=) - Unknown - benign g.121743982G>A g.120986406G>A GLI2(NM_001371271.1):c.2085G>A (p.T695=), GLI2(NM_005270.4):c.2085G>A (p.T695=) - GLI2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2088A>G r.(?) p.(Ala696=) - Unknown - likely benign g.121743985A>G g.120986409A>G GLI2(NM_005270.4):c.2088A>G (p.A696=) - GLI2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2088A>G r.(?) p.(Ala696=) - Unknown - benign g.121743985A>G g.120986409A>G GLI2(NM_005270.4):c.2088A>G (p.A696=) - GLI2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2140G>A r.(?) p.(Ala714Thr) - Unknown - likely benign g.121744037G>A g.120986461G>A GLI2(NM_005270.4):c.2140G>A (p.A714T) - GLI2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2159G>A r.(?) p.(Arg720His) - Unknown - likely benign g.121744056G>A g.120986480G>A GLI2(NM_005270.4):c.2159G>A (p.R720H) - GLI2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2187C>A r.(?) p.(Phe729Leu) - Unknown - likely benign g.121744084C>A g.120986508C>A - - GLI2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2260C>A r.(?) p.(Arg754=) - Unknown - likely benign g.121744157C>A g.120986581C>A - - GLI2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2265C>G r.(?) p.(Asn755Lys) - Unknown - likely benign g.121744162C>G g.120986586C>G GLI2(NM_005270.4):c.2265C>G (p.(Asn755Lys)) - GLI2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2488T>C r.(?) p.(Phe830Leu) - Unknown - likely benign g.121745978T>C g.120988402T>C GLI2(NM_005270.4):c.2488T>C (p.(Phe830Leu)) - GLI2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2491_2493del r.(?) p.(Ser832del) - Unknown - VUS g.121745981_121745983del g.120988405_120988407del GLI2(NM_005270.4):c.2490_2492del (p.(Ser832del)), GLI2(NM_005270.4):c.2491_2493delTCC (p.S832del) - GLI2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2491_2493del r.(?) p.(Ser832del) - Unknown - VUS g.121745981_121745983del - GLI2(NM_005270.4):c.2490_2492del (p.(Ser832del)), GLI2(NM_005270.4):c.2491_2493delTCC (p.S832del) - GLI2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2492C>T r.(?) p.(Ser831Phe) - Unknown - VUS g.121745982C>T g.120988406C>T GLI2(NM_005270.4):c.2492C>T (p.(Ser831Phe)) - GLI2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2680G>C r.(?) p.(Ala894Pro) - Unknown - VUS g.121746170G>C g.120988594G>C GLI2(NM_005270.4):c.2680G>C (p.(Ala894Pro)) - GLI2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2940C>T r.(?) p.(Ser980=) - Unknown - benign g.121746430C>T g.120988854C>T GLI2(NM_005270.4):c.2940C>T (p.S980=) - GLI2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2990C>G r.(?) p.(Pro997Arg) - Unknown - likely benign g.121746480C>G - GLI2(NM_001371271.1):c.2990C>G (p.P997R) - GLI2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3018C>T r.(?) p.(Gly1006=) - Unknown - likely benign g.121746508C>T g.120988932C>T GLI2(NM_005270.4):c.3018C>T (p.G1006=) - GLI2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3038C>G r.(?) p.(Pro1013Arg) - Unknown - likely benign g.121746528C>G g.120988952C>G GLI2(NM_005270.4):c.3038C>G (p.P1013R) - GLI2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3048C>T r.(?) p.(Asp1016=) - Unknown - benign g.121746538C>T g.120988962C>T GLI2(NM_005270.4):c.3048C>T (p.D1016=) - GLI2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3080G>A r.(?) p.(Arg1027Gln) - Unknown - VUS g.121746570G>A g.120988994G>A GLI2(NM_005270.4):c.3080G>A (p.R1027Q) - GLI2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3283G>C r.(?) p.(Asp1095His) - Unknown - likely benign g.121746773G>C g.120989197G>C GLI2(NM_005270.4):c.3283G>C (p.D1095H) - GLI2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3357C>T r.(?) p.(Pro1119=) - Unknown - likely benign g.121746847C>T g.120989271C>T - - GLI2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3397G>A r.(?) p.(Ala1133Thr) - Unknown - likely benign g.121746887G>A - GLI2(NM_001371271.1):c.3397G>A (p.A1133T) - GLI2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3401C>T r.(?) p.(Pro1134Leu) - Unknown - VUS g.121746891C>T g.120989315C>T GLI2(NM_005270.4):c.3401C>T (p.P1134L) - GLI2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3460G>A r.(?) p.(Val1154Ile) - Unknown - likely benign g.121746950G>A g.120989374G>A - - GLI2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3462dup r.(?) p.(Asp1155ArgfsTer40) - Unknown - likely pathogenic g.121746952dup g.120989376dup - - GLI2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3466G>T r.(?) p.(Ala1156Ser) - Unknown - benign g.121746956G>T g.120989380G>T GLI2(NM_005270.4):c.3466G>T (p.A1156S) - GLI2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3466G>T r.(?) p.(Ala1156Ser) - Unknown - benign g.121746956G>T g.120989380G>T GLI2(NM_005270.4):c.3466G>T (p.A1156S) - GLI2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3466G>T r.(?) p.(Ala1156Ser) - Unknown - benign g.121746956G>T g.120989380G>T GLI2(NM_005270.4):c.3466G>T (p.A1156S) - GLI2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3502C>T r.(?) p.(Gln1168Ter) - Unknown - pathogenic g.121746992C>T g.120989416C>T - - GLI2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3528G>T r.(?) p.(Gln1176His) - Unknown - likely benign g.121747018G>T g.120989442G>T GLI2(NM_005270.4):c.3528G>T (p.(Gln1176His)) - GLI2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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