Unique variants in the IGF1R gene

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the NM_000875.3 transcript reference sequence.

222 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+?/. 1 2 c.(?-50)_(*7088+?)del r.0 p.0 - likely pathogenic g.? - c.? - IGF1R_000015 1 more item PubMed: Walenkamp 2008 - - Germline - 1/10 - - - Patricia Willemse
+?/. 1 01_21 c.(?_rs11630665)_(rs12912857_?)del r.(?) p.(?) - likely pathogenic g.? - - - IGF1R_000000 deletion exon 1-21 at 15q26.2; de novo, in patient - - - De novo - - - - - Patricia Willemse
+?/. 1 2i_21i c.(?_rs11857366)_(rs7169385_?)del r.(?) p.(?) - likely pathogenic g.? - - - IGF1R_000000 deletion exon 3-21 at 15q26.3; de novo, in patient - - - De novo - 1/214 - - - Patricia Willemse
?/. 1 - c.(?_-1)_(*1_?)del r.0 p.0 - VUS g.(89100001_97043375)_(102405124_qter)del - - arr[hg19] 15q26(97,043,375-102,405,124)x1 dn IGF1R_000026 deletion affecting 26 RefSeq genes incl. IGF1R PubMed: Spengler 2012, for EUCID-SRS consortium - - De novo - - - - normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR Zeynep Tümer
-?/. 1 1 c.? r.(?) p.(=) - likely benign g.? - 977_980delCTTT - IGF1R_000006 - PubMed: Kawashima 2005 - - Germline - 1/24 cases - - - Johan den Dunnen
-?/. 1 - c.16G>A r.(?) p.(Gly6Arg) - likely benign g.99192826G>A - IGF1R(NM_000875.3):c.16G>A (p.(Gly6Arg)) - IGF1R_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.29C>G r.(?) p.(Pro10Arg) - likely benign g.99192839C>G - IGF1R(NM_000875.3):c.29C>G (p.(Pro10Arg)) - IGF1R_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.46C>T r.(?) p.(Leu16Phe) - VUS g.99192856C>T - IGF1R(NM_000875.4):c.46C>T (p.L16F) - IGF1R_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.71C>G r.(?) p.(Ser24Trp) - VUS g.99192881C>G g.98649652C>G IGF1R(NM_000875.3):c.71C>G (p.(Ser24Trp)) - IGF1R_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-?/. 1 - c.78G>T r.(?) p.(Trp26Cys) - likely benign g.99192888G>T g.98649659G>T IGF1R(NM_000875.3):c.78G>T (p.(Trp26Cys)) - IGF1R_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.83C>T r.(?) p.(Thr28Met) - VUS g.99192893C>T - IGF1R(NM_000875.5):c.83C>T (p.T28M) - IGF1R_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 2 - c.84G>A r.(?) p.(Thr28=) - likely benign g.99192894G>A g.98649665G>A IGF1R(NM_000875.3):c.84G>A (p.(Thr28=)), IGF1R(NM_000875.4):c.84G>A (p.T28=) - IGF1R_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.94+14C>T r.(=) p.(=) - likely benign g.99192918C>T g.98649689C>T IGF1R(NM_000875.3):c.94+14C>T (p.(=)) - IGF1R_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.(?_95-1)_(*1_?)del r.0? p.0? - VUS g.(98500001_99203445)_(101798740_qter)del - - arr[hg19] 15q26.3(99,203,445-101,798,740 )x1 dn IGF1R_000027 deletion affecting IGF1R PubMed: Bruce 2009, for EUCID-SRS consortium - - De novo - - - - normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR Zeynep Tümer
?/. 1 - c.142C>T r.(?) p.(Arg48Cys) - VUS g.99250838C>T - IGF1R(NM_000875.3):c.142C>T (p.(Arg48Cys)) - IGF1R_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.189C>T r.(?) p.(Leu63=) - likely benign g.99250885C>T g.98707656C>T IGF1R(NM_000875.3):c.189C>T (p.(Leu63=)) - IGF1R_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.212G>A r.(?) p.(Arg71His) - VUS g.99250908G>A g.98707679G>A IGF1R(NM_000875.3):c.212G>A (p.(Arg71His)) - IGF1R_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.225C>T r.(?) p.(Phe75=) - benign g.99250921C>T g.98707692C>T IGF1R(NM_000875.3):c.225C>T (p.(Phe75=)) - IGF1R_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.237G>A r.(?) p.(Thr79=) - likely benign g.99250933G>A g.98707704G>A IGF1R(NM_000875.3):c.237G>A (p.(Thr79=)), IGF1R(NM_000875.4):c.237G>A (p.T79=) - IGF1R_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.265C>G r.(?) p.(Arg89Gly) - VUS g.99250961C>G - IGF1R(NM_000875.3):c.265C>G (p.(Arg89Gly)) - IGF1R_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3 2 c.265C>T r.(?), r.265c>u p.(Arg89*), p.Arg89* - pathogenic g.99250961C>T g.98707732C>T Arg59stop, Arg59Ter - IGF1R_000004 heterozygous deactivation of one IGF1R allele, 1 more item PubMed: Abuzzahab 2003, PubMed: Raile 2006, OMIM:var0003, PubMed: Raile 2006, OMIM:var0003 - - Germline - 3/184 DdeI, DdeI+ - - Patricia Willemse
-?/. 1 - c.280G>A r.(?) p.(Glu94Lys) - likely benign g.99250976G>A - IGF1R(NM_000875.3):c.280G>A (p.(Glu94Lys)) - IGF1R_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.395A>G r.(?) p.(Asn132Ser) - VUS g.99251091A>G - IGF1R(NM_000875.3):c.395A>G (p.(Asn132Ser)) - IGF1R_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.402G>A r.(?) p.(Arg134=) - benign g.99251098G>A - IGF1R(NM_000875.3):c.402G>A (p.(=)) - IGF1R_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 2 c.413G>A r.(?) p.(Arg138Gln) - likely pathogenic g.99251109G>A g.98707880G>A G>A, R108Q - IGF1R_000021 - PubMed: Abuzzahab 2003, OMIM:var0001 - - Germline - 1/176 - - - Patricia Willemse
?/. 1 - c.431A>G r.(?) p.(Glu144Gly) - VUS g.99251127A>G g.98707898A>G - - IGF1R_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 2 c.435A>C r.(?) p.(Lys145Asn) - likely pathogenic g.99251131A>C g.98707902A>C A>C, K115N - IGF1R_000020 - PubMed: Abuzzahab 2003, OMIM:var0002 - - Germline - 1/176 - - - Patricia Willemse
?/. 1 - c.473C>G r.(?) p.(Ser158Cys) - VUS g.99251169C>G g.98707940C>G IGF1R(NM_000875.4):c.473C>G (p.S158C) - IGF1R_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.568C>T r.(?) p.(Pro190Ser) - likely benign g.99251264C>T g.98708035C>T IGF1R(NM_000875.3):c.568C>T (p.(Pro190Ser)) - IGF1R_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.570G>T r.(?) p.(Pro190=) - likely benign g.99251266G>T - IGF1R(NM_000875.3):c.570G>T (p.(=)) - IGF1R_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.640+20C>T r.(=) p.(=) - benign g.99251356C>T g.98708127C>T IGF1R(NM_000875.4):c.640+20C>T - IGF1R_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.641-14C>T r.(=) p.(=) - likely benign g.99434540C>T g.98891311C>T IGF1R(NM_000875.3):c.641-14C>T (p.(=)) - IGF1R_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.664C>T r.(?) p.(Arg222Trp) - VUS g.99434577C>T g.98891348C>T IGF1R(NM_000875.3):c.664C>T (p.(Arg222Trp)) - IGF1R_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.675C>T r.(?) p.(Thr225=) - likely benign g.99434588C>T g.98891359C>T IGF1R(NM_000875.3):c.675C>T (p.(Thr225=)) - IGF1R_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 3 c.699C>T r.(?) p.(Pro204=) - likely benign g.99434612C>T g.98891383C>T C>T Pro204Pro - IGF1R_000007 - PubMed: Kawashima 2005 - - Germline - 1/48 chromosomes - - - Johan den Dunnen
-?/. 1 - c.737C>T r.(?) p.(Thr246Met) - likely benign g.99434650C>T - IGF1R(NM_000875.3):c.737C>T (p.(Thr246Met)) - IGF1R_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.761A>T r.(?) p.(Tyr254Phe) - VUS g.99434674A>T - - - IGF1R_000222 - - - - Unknown - - - - - MobiDetails
?/. 1 - c.764A>G r.(?) p.(Tyr255Cys) - VUS g.99434677A>G - IGF1R(NM_000875.3):c.764A>G (p.(Tyr255Cys)) - IGF1R_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.772G>A r.(?) p.(Gly258Ser) - VUS g.99434685G>A - IGF1R(NM_000875.3):c.772G>A (p.(Gly258Ser)) - IGF1R_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.807C>T r.(?) p.(Tyr269=) - likely benign g.99434720C>T g.98891491C>T IGF1R(NM_000875.3):c.807C>T (p.(Tyr269=)) - IGF1R_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.812T>C r.(?) p.(Phe271Ser) - VUS g.99434725T>C - - - IGF1R_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.835C>T r.(?) p.(Arg279Cys) - VUS g.99434748C>T g.98891519C>T IGF1R(NM_000875.3):c.835C>T (p.(Arg279Cys)) - IGF1R_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.846C>T r.(?) p.(Cys282=) - likely benign g.99434759C>T g.98891530C>T IGF1R(NM_000875.3):c.846C>T (p.(Cys282=)) - IGF1R_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.850A>T r.(?) p.(Asn284Tyr) - VUS g.99434763A>T g.98891534A>T IGF1R(NM_000875.3):c.850A>T (p.(Asn284Tyr)) - IGF1R_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.864C>T r.(?) p.(Ala288=) - benign g.99434777C>T g.98891548C>T IGF1R(NM_000875.3):c.864C>T (p.(Ala288=)) - IGF1R_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.873C>T r.(?) p.(Ser291=) - likely benign g.99434786C>T - IGF1R(NM_000875.3):c.873C>T (p.(=)) - IGF1R_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.885G>A r.(?) p.(Gly295=) - benign g.99434798G>A - IGF1R(NM_000875.3):c.885G>A (p.(Gly295=)) - IGF1R_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.885G>T r.(?) p.(Gly295=) - likely benign g.99434798G>T - IGF1R(NM_000875.3):c.885G>T (p.(=)) - IGF1R_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.897C>T r.(?) p.(His299=) - likely benign g.99434810C>T - IGF1R(NM_000875.3):c.897C>T (p.(=)) - IGF1R_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.898G>A r.(?) p.(Asp300Asn) - likely benign g.99434811G>A g.98891582G>A IGF1R(NM_000875.3):c.898G>A (p.(Asp300Asn)) - IGF1R_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.903C>A r.(=), r.(?) p.(=), p.(Gly301=) - benign, likely benign g.99434816C>A g.98891587C>A IGF1R(NM_000875.3):c.903C>A (p.(Gly301=)), IGF1R(NM_000875.4):c.903C>A (p.G301=) - IGF1R_000030 195 heterozygous; Clinindb (India), 5 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs2229764 CLASSIFICATION record, Germline - 195/2795 individuals, 5/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Mohammed Faruq
-?/. 1 - c.942C>T r.(?) p.(Asn314=) - likely benign g.99434855C>T - IGF1R(NM_000875.3):c.942C>T (p.(=)) - IGF1R_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.943G>A r.(?) p.(Gly315Ser) - likely benign g.99434856G>A g.98891627G>A IGF1R(NM_000875.3):c.943G>A (p.(Gly315Ser)) - IGF1R_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.953+18G>A r.(=) p.(=) - likely benign g.99434884G>A - IGF1R(NM_000875.3):c.953+18G>A (p.(=)) - IGF1R_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.954-18T>C r.(=) p.(=) - likely benign g.99439968T>C - IGF1R(NM_000875.3):c.954-18T>C (p.(=)) - IGF1R_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.954-13del r.(=) p.(=) - likely benign g.99439973del - IGF1R(NM_000875.3):c.954-13del (p.(=)) - IGF1R_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.987G>A r.(?) p.(Pro329=) - likely benign g.99440019G>A - IGF1R(NM_000875.3):c.987G>A (p.(Pro329=)) - IGF1R_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1045A>G r.(?) p.(Met349Val) - VUS g.99440077A>G - IGF1R(NM_000875.3):c.1045A>G (p.(Met349Val)) - IGF1R_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1055G>A r.(?) p.(Gly352Glu) - likely benign g.99440087G>A - IGF1R(NM_000875.3):c.1055G>A (p.(Gly352Glu)) - IGF1R_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1074C>T r.(?) p.(Gly358=) - likely pathogenic g.99440106C>T g.98896877C>T - - IGF1R_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1096C>T r.(?) p.(Arg366Trp) - VUS g.99440128C>T - IGF1R(NM_000875.4):c.1096C>T (p.R366W) - IGF1R_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1102+27C>T r.(=) p.(=) - benign g.99440161C>T g.98896932C>T IGF1R(NM_000875.4):c.1102+27C>T - IGF1R_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1103-17A>G r.(=) p.(=) - likely benign g.99442689A>G g.98899460A>G IGF1R(NM_000875.3):c.1103-17A>G (p.(=)) - IGF1R_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1157G>T r.(?) p.(Gly386Val) - VUS g.99442760G>T - IGF1R(NM_000875.3):c.1157G>T (p.(Gly386Val)) - IGF1R_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1161C>A r.(?) p.(Tyr387*) - pathogenic (dominant) g.99442764C>A g.98899535C>A - - IGF1R_000107 - PubMed: Mohn 2011 - - Germline yes - - - - Johan den Dunnen
-?/., ?/. 2 - c.1162G>A r.(?) p.(Val388Met) - likely benign, VUS g.99442765G>A g.98899536G>A IGF1R(NM_000875.3):c.1162G>A (p.(Val388Met)), IGF1R(NM_000875.4):c.1162G>A (p.V388M) - IGF1R_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 - c.1166_1171delinsCGG r.(?) p.(Lys389_Arg391delinsThrGly) - likely pathogenic g.99442769_99442774delinsCGG - - - IGF1R_000195 - - - - CLASSIFICATION record - - - - - MobiDetails
-?/. 2 - c.1194C>T r.(?) p.(Ser398=) - likely benign g.99442797C>T g.98899568C>T IGF1R(NM_000875.3):c.1194C>T (p.(Ser398=)), IGF1R(NM_000875.4):c.1194C>T (p.S398=) - IGF1R_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1212C>T r.(?) p.(Asn404=) - likely benign g.99442815C>T - IGF1R(NM_000875.3):c.1212C>T (p.(=)) - IGF1R_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1217G>A r.(?) p.(Arg406His) - VUS g.99442820G>A - IGF1R(NM_000875.3):c.1217G>A (p.(Arg406His)) - IGF1R_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1247+3A>G r.spl? p.? - likely benign g.99442853A>G - IGF1R(NM_000875.3):c.1247+3A>G (p.?) - IGF1R_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1270G>A r.(?) p.(Asp424Asn) - VUS g.99451936G>A g.98908707G>A IGF1R(NM_000875.3):c.1270G>A (p.(Asp424Asn)) - IGF1R_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1310G>A r.(?) p.(Arg437His) - likely benign g.99451976G>A g.98908747G>A IGF1R(NM_000875.3):c.1310G>A (p.(Arg437His)) - IGF1R_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 3 - c.1336A>G r.(?) p.(Met446Val) - likely benign g.99452002A>G g.98908773A>G 1 more item - IGF1R_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
+?/. 1 - c.1401dup r.(?) p.(Thr468AspfsTer2) - likely pathogenic g.99452067dup - - - IGF1R_000218 - - - - Unknown - - - - - MobiDetails
-?/. 1 - c.1452G>A r.(?) p.(Glu484=) - likely benign g.99452118G>A - IGF1R(NM_000875.3):c.1452G>A (p.(=)) - IGF1R_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.1462+15C>G r.(=) p.(=) - benign g.99452143C>G g.98908914C>G IGF1R(NM_000875.3):c.1462+15C>G (p.(=)), IGF1R(NM_000875.4):c.1462+15C>G - IGF1R_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/. 1 - c.1463-5C>A r.spl? p.? - benign g.99454539C>A g.98911310C>A IGF1R(NM_000875.3):c.1463-5C>A (p.?) - IGF1R_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1473C>T r.(?) p.(Asp491=) - likely benign g.99454554C>T - IGF1R(NM_000875.3):c.1473C>T (p.(=)) - IGF1R_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1474G>A r.(?) p.(Val492Ile) - likely benign g.99454555G>A g.98911326G>A IGF1R(NM_000875.3):c.1474G>A (p.(Val492Ile)) - IGF1R_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1500G>A r.(?) p.(Thr500=) - likely benign g.99454581G>A - IGF1R(NM_000875.3):c.1500G>A (p.(=)) - IGF1R_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1502C>G r.(?) p.(Ser501Trp) - VUS g.99454583C>G g.98911354C>G IGF1R(NM_000875.5):c.1502C>G (p.S501W) - IGF1R_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1502C>T r.(?) p.(Ser501Leu) - likely benign g.99454583C>T - IGF1R(NM_000875.3):c.1502C>T (p.(Ser501Leu)) - IGF1R_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1503G>A r.(?) p.(Ser501=) - likely benign g.99454584G>A - IGF1R(NM_000875.3):c.1503G>A (p.(=)) - IGF1R_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/., -?/., ?/. 3 7 c.1532G>A r.(?), r.1532g>a p.(Arg511Gln), p.Arg511Gln - likely benign, likely pathogenic, VUS g.99454613G>A g.98911384G>A 1577G>A, R481Q, 1 more item - IGF1R_000003 VKGL data sharing initiative Nederland PubMed: Inagaki 2007, OMIM:var0005 - - CLASSIFICATION record, Germline - - KpnI - - Patricia Willemse, VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.1546G>T r.(?) p.(Asp516Tyr) - VUS g.99454627G>T - IGF1R(NM_000875.5):c.1546G>T (p.D516Y) - IGF1R_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1572C>T r.(?) p.(Thr524=) - likely benign g.99454653C>T - IGF1R(NM_000875.3):c.1572C>T (p.(=)) - IGF1R_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1589+4A>G r.spl? p.? - VUS g.99454674A>G - IGF1R(NM_000875.3):c.1589+4A>G (p.?) - IGF1R_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1589+17G>A r.(=) p.(=) - likely benign g.99454687G>A - IGF1R(NM_000875.3):c.1589+17G>A (p.(=)) - IGF1R_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1590-20T>C r.(=) p.(=) - benign g.99456253T>C g.98913024T>C IGF1R(NM_000875.4):c.1590-20T>C - IGF1R_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1590-17A>G r.(=) p.(=) - likely benign g.99456256A>G - IGF1R(NM_000875.3):c.1590-17A>G (p.(=)) - IGF1R_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1590-1G>C r.spl? p.? - pathogenic g.99456272G>C - IGF1R(NM_000875.5):c.1590-1G>C - IGF1R_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.1632C>T r.(?) p.(Cys544=) - likely benign g.99456315C>T g.98913086C>T IGF1R(NM_000875.3):c.1632C>T (p.(Cys544=)) - IGF1R_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1679A>G r.(?) p.(Lys560Arg) - VUS g.99456362A>G - IGF1R(NM_000875.3):c.1679A>G (p.(Lys560Arg)) - IGF1R_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.1686G>A r.(?) p.(Val562=) - benign, likely benign g.99456369G>A g.98913140G>A IGF1R(NM_000875.3):c.1686G>A (p.(Val562=)), IGF1R(NM_000875.4):c.1686G>A (p.V562=) - IGF1R_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1713G>A r.(?) p.(Leu571=) - likely benign g.99456396G>A - IGF1R(NM_000875.3):c.1713G>A (p.(=)) - IGF1R_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.1784G>A r.(?) p.(Arg595His) - likely benign, VUS g.99456467G>A g.98913238G>A IGF1R(NM_000875.3):c.1784G>A (p.(Arg595His)), IGF1R(NM_000875.4):c.1784G>A (p.R595H) - IGF1R_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1804T>C r.(?) p.(Leu602=) - likely benign g.99456487T>C - IGF1R(NM_000875.3):c.1804T>C (p.(=)) - IGF1R_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 9 c.1886T>A r.(?) p.(Val629Glu) - pathogenic g.99459250T>A g.98916021T>A V599E - IGF1R_000022 functional analysis variant by expression cloning PubMed: Wallborn 2010 - - Germline - - - - - Jürgen Klammt
-?/. 2 - c.1914C>T r.(?) p.(Asn638=) - likely benign g.99459278C>T g.98916049C>T IGF1R(NM_000875.3):c.1914C>T (p.(Asn638=)), IGF1R(NM_000875.4):c.1914C>T (p.N638=) - IGF1R_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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