Unique variants in the GLI2 gene

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Type/DNA     

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     

Owner     
-/. 2 - c.-7G>A r.(?) p.(=) - - benign g.121554890G>A g.120797314G>A GLI2(NM_005270.4):c.-7G>A - GLI2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 1 - c.30C>T r.(?) p.(Ser10=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.67G>A r.(?) p.(Ala23Thr) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.148+5T>C r.spl? p.? - - 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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.148+4297T>C r.(=) p.(=) - - VUS g.121559341T>C g.120801765T>C - - GLI2_000001 - - - - Germline - - - - - Yu Sun
+/. 1 - c.199C>T r.(?) p.(Arg67Ter) - - pathogenic g.121684987C>T g.120927411C>T - - GLI2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.254+66C>T r.(=) p.(=) - - benign g.121685108C>T g.120927532C>T - - GLI2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.255-17G>T r.(=) p.(=) - - benign g.121708802G>T g.120951226G>T - - GLI2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.321G>A r.(?) p.(Pro107=) - - VUS g.121708885G>A g.120951309G>A - - GLI2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.342C>T r.(?) p.(Pro114=) - - 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 - - - - - VKGL-NL_AMC
+?/. 1 - c.349G>A r.(?) p.(Ala117Thr) - - likely pathogenic g.121708913G>A g.120951337G>A - - GLI2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.391C>T r.(?) p.(Arg131Cys) - - 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 - - - - - VKGL-NL_Utrecht
./. 1 - c.392G>A r.(?) p.(Arg131His) - - pathogenic g.121708956G>A g.120951380G>A - - GLI2_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.454G>A r.(?) p.(Asp152Asn) - - VUS g.121709018G>A g.120951442G>A - - GLI2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.562del r.(?) p.(Ala188Argfs*7) - ACMG likely pathogenic g.121712925del g.120955349del 562delG - GLI2_000109 has VUS in PTCH1 PubMed: Helbig 2016 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.563C>T r.(?) p.(Ala188Val) - - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.564G>A r.(?) p.(Ala188=) - - 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 - - - - - VKGL-NL_AMC
-?/., ?/. 2 - c.571G>A r.(?) p.(Gly191Arg) substitution - likely benign, VUS g.121712934G>A g.120955358G>A GLI2(NM_005270.4):c.571G>A (p.G191R) - GLI2_000031 VKGL data sharing initiative Nederland Papuc et al., submitted - rs202141899 Germline, CLASSIFICATION record - - - - - Anaïs Begemann, VKGL-NL_Rotterdam
-?/., ?/. 2 - c.598G>A r.(?) p.(Ala200Thr) - - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.607G>A r.(?) p.(Ala203Thr) - - 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 - - - - - VKGL-NL_Rotterdam
-/. 2 - c.643+16C>G r.(=) p.(=) - - benign g.121713022C>G g.120955446C>G GLI2(NM_005270.4):c.643+16C>G - GLI2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.650G>A r.(?) p.(Arg217His) - - VUS g.121726296G>A g.120968720G>A - - GLI2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.662C>T r.(?) p.(Pro221Leu) - - likely pathogenic g.121726308C>T g.120968732C>T - - GLI2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.677G>A r.(?) p.(Arg226His) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.695C>T r.(?) p.(Ala232Val) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.696G>A r.(?) p.(Ala232=) - - 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 - - - - - VKGL-NL_Rotterdam
-/. 2 - c.720C>T r.(?) p.(Asp240=) - - 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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/. 1 - c.740G>A r.(?) p.(Arg247Gln) - - likely benign g.121726386G>A g.120968810G>A - - GLI2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.781A>T r.(?) p.(Asn261Tyr) - - 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 - - - - - VKGL-NL_AMC
-/. 2 - c.801G>A r.(?) p.(Ser267=) - - 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 - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
?/. 1 - c.818A>T r.(?) p.(Tyr273Phe) - - VUS g.121726464A>T - - - GLI2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.845+10G>A r.(=) p.(=) - - benign g.121726501G>A g.120968925G>A GLI2(NM_005270.4):c.845+10G>A - GLI2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.963C>G r.(?) p.(Pro321=) - - 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 - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen
-?/. 1 - c.1083C>T r.(?) p.(Ala361=) - - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1231C>T r.(?) p.(Gln411Ter) - - pathogenic g.121732548C>T - GLI2(NM_005270.4):c.1231C>T (p.Q411*) - GLI2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1311C>A r.(?) p.(Thr437=) - - likely benign g.121732628C>A g.120975052C>A - - GLI2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1311C>T r.(?) p.(Thr437=) - - benign g.121732628C>T g.120975052C>T - - GLI2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1392C>T r.(?) p.(His464=) - - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.1428C>T r.(?) p.(Ala476=) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1518G>A r.(?) p.(Thr506=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1518+14T>C r.(=) p.(=) - - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.1518+19A>C r.(=) p.(=) - - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.1683+9G>A r.(=) p.(=) - - likely benign g.121740465G>A - GLI2(NM_005270.4):c.1683+9G>A - GLI2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1684-17C>T r.(=) p.(=) - - benign g.121742030C>T - GLI2(NM_001371271.1):c.1684-17C>T - GLI2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1684-5C>T r.spl? p.? - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1684-4C>G r.spl? p.? - - 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam
?/. 1 - c.1745G>A r.(?) p.(Arg582Gln) - - VUS g.121742108G>A g.120984532G>A - - GLI2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1761G>A r.(?) p.(Thr587=) - - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.1799G>A r.(?) p.(Arg600His) - - VUS g.121742162G>A g.120984586G>A - - GLI2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1859C>T r.(?) p.(Thr620Met) - - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1885G>A r.(?) p.(Glu629Lys) - - pathogenic g.121742248G>A g.120984672G>A - - GLI2_000104 3 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs387907277 Germline - 3/2795 individuals - - - Mohammed Faruq
+/. 1 - c.1908dup r.(?) p.(Val637ArgfsTer42) - - pathogenic g.121742271dup g.120984695dup - - GLI2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1933G>A r.(?) p.(Ala645Thr) - - 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 - - - - - VKGL-NL_VUmc
-?/., -/. 3 - c.1944C>T r.(=), r.(?) p.(=), p.(Thr648=) - - likely benign, benign g.121742307C>T g.120984731C>T GLI2(NM_005270.4):c.1944C>T (p.T648=) - GLI2_000055 1 homozygous; Clinindb (India), 15 heterozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs13008360 Germline, CLASSIFICATION record - 1/2786 individuals, 15/2786 individuals - - - Mohammed Faruq, VKGL-NL_AMC
-/., -?/. 2 - c.1986G>A r.(?) p.(Ser662=) - - benign, 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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-?/., -/. 3 - c.2085G>A r.(?) p.(Thr695=) - - likely benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/., -/. 2 - c.2088A>G r.(?) p.(Ala696=) - - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.2140G>A r.(?) p.(Ala714Thr) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2159G>A r.(?) p.(Arg720His) - - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.2187C>A r.(?) p.(Phe729Leu) - - likely benign g.121744084C>A g.120986508C>A - - GLI2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2260C>A r.(?) p.(Arg754=) - - likely benign g.121744157C>A g.120986581C>A - - GLI2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2265C>G r.(?) p.(Asn755Lys) - - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.2488T>C r.(?) p.(Phe830Leu) - - 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 - - - - - VKGL-NL_Leiden
?/. 2 - c.2491_2493del r.(?) p.(Ser832del) - - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.2492C>T r.(?) p.(Ser831Phe) - - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.2680G>C r.(?) p.(Ala894Pro) - - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.2940C>T r.(?) p.(Ser980=) - - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.2990C>G r.(?) p.(Pro997Arg) - - likely benign g.121746480C>G - GLI2(NM_001371271.1):c.2990C>G (p.P997R) - GLI2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.3018C>T r.(?) p.(Gly1006=) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3038C>G r.(?) p.(Pro1013Arg) - - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3048C>T r.(?) p.(Asp1016=) - - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.3080G>A r.(?) p.(Arg1027Gln) - - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.3283G>C r.(?) p.(Asp1095His) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3357C>T r.(?) p.(Pro1119=) - - likely benign g.121746847C>T g.120989271C>T - - GLI2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3397G>A r.(?) p.(Ala1133Thr) - - likely benign g.121746887G>A - GLI2(NM_001371271.1):c.3397G>A (p.A1133T) - GLI2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3401C>T r.(?) p.(Pro1134Leu) - - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.3460G>A r.(?) p.(Val1154Ile) - - likely benign g.121746950G>A g.120989374G>A - - GLI2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.3462dup r.(?) p.(Asp1155ArgfsTer40) - - likely pathogenic g.121746952dup g.120989376dup - - GLI2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.3466G>T r.(?) p.(Ala1156Ser) - - 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 - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/. 1 - c.3502C>T r.(?) p.(Gln1168Ter) - - pathogenic g.121746992C>T g.120989416C>T - - GLI2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3528G>T r.(?) p.(Gln1176His) - - 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 - - - - - VKGL-NL_Leiden
-/. 1 - c.3590G>A r.(?) p.(Gly1197Asp) - - benign g.121747080G>A g.120989504G>A GLI2(NM_005270.4):c.3590G>A (p.G1197D) - GLI2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3622C>G r.(?) p.(Arg1208Gly) - - VUS g.121747112C>G g.120989536C>G GLI2(NM_001371271.1):c.3622C>G (p.R1208G) - GLI2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.3623G>A r.(?) p.(Arg1208His) - - likely benign g.121747113G>A g.120989537G>A GLI2(NM_005270.4):c.3623G>A (p.R1208H) - GLI2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3628G>A r.(?) p.(Gly1210Arg) - - likely benign g.121747118G>A g.120989542G>A GLI2(NM_005270.4):c.3628G>A (p.G1210R) - GLI2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.3676C>T r.(?) p.(Arg1226Ter) - - likely pathogenic g.121747166C>T g.120989590C>T - - GLI2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3723G>A r.(?) p.(Met1241Ile) - - likely benign g.121747213G>A g.120989637G>A GLI2(NM_005270.4):c.3723G>A (p.(Met1241Ile)) - GLI2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.3882G>A r.(?) p.(Thr1294=) - - benign g.121747372G>A g.120989796G>A GLI2(NM_005270.4):c.3882G>A (p.T1294=) - GLI2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.3916G>A r.(?) p.(Asp1306Asn) - - benign g.121747406G>A g.120989830G>A GLI2(NM_005270.4):c.3916G>A (p.D1306N) - GLI2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Groningen
-/. 2 - c.3939A>G r.(?) p.(Pro1313=) - - benign g.121747429A>G g.120989853A>G GLI2(NM_005270.4):c.3939A>G (p.P1313=) - GLI2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 2 - c.3943C>T r.(?) p.(Pro1315Ser) - - likely benign g.121747433C>T g.120989857C>T GLI2(NM_005270.4):c.3943C>T (p.P1315S) - GLI2_000086 91 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs114376238 Germline, CLASSIFICATION record - 91/2795 individuals - - - Mohammed Faruq, VKGL-NL_AMC
-?/., -/. 3 - c.4054A>G r.(?) p.(Met1352Val) - - likely benign, benign g.121747544A>G g.120989968A>G GLI2(NM_005270.4):c.4054A>G (p.M1352V, p.(Met1352Val)) - GLI2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_Nijmegen
-?/. 2 - c.4081G>T r.(?) p.(Val1361Leu) - - likely benign g.121747571G>T g.120989995G>T GLI2(NM_005270.4):c.4081G>T (p.V1361L) - GLI2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.4097T>C r.(?) p.(Phe1366Ser) - - VUS g.121747587T>C g.120990011T>C - - GLI2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.4145G>A r.(?) p.(Arg1382His) - - likely benign g.121747635G>A g.120990059G>A GLI2(NM_005270.4):c.4145G>A (p.R1382H) - GLI2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.4221G>A r.(?) p.(Pro1407=) - - likely benign g.121747711G>A g.120990135G>A GLI2(NM_005270.4):c.4221G>A (p.P1407=) - GLI2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.4332G>A r.(?) p.(Met1444Ile) - - likely benign g.121747822G>A g.120990246G>A GLI2(NM_005270.4):c.4332G>A (p.M1444I) - GLI2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.4333C>T r.(?) p.(Leu1445Phe) - - likely benign g.121747823C>T g.120990247C>T - - GLI2_000105 13 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs146207623 Germline - 13/2795 individuals - - - Mohammed Faruq
-/. 1 - c.4497T>C r.(?) p.(Thr1499=) - - benign g.121747987T>C g.120990411T>C GLI2(NM_005270.4):c.4497T>C (p.T1499=) - GLI2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., -/. 6 - c.4558G>A r.(?) p.(Asp1520Asn) - - likely benign, benign g.121748048G>A g.120990472G>A GLI2(NM_005270.4):c.4558G>A (p.D1520N, p.(Asp1520Asn)) - GLI2_000021 VKGL data sharing initiative Nederland, 1 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs114814747 CLASSIFICATION record, Germline - 1/2793 individuals, 87/2793 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq, VKGL-NL_AMC, VKGL-NL_Leiden, VKGL-NL_Groningen
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