Full data view for gene IGF1R

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

258 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     
+?/. 2 c.(?-50)_(*7088+?)del r.0 p.0 Unknown - likely pathogenic g.? - c.? - IGF1R_000015 FISH and arrayCGH reveal 5.2 Mb deletion 15q26.2-qter, starting at SPATA8 spanning 34 genes; RNA expression reduced; MLPA tested exons 2, 8 and 18 PubMed: Walenkamp 2008 - - Germline - 1/10 - - - RNA, DNA arrayCGH, MLPA, Western - - ? - PubMed: Walenkamp 2008 two siblings of patient had a normal height F no - - - - - - 1 Patricia Willemse
+?/. 01_21 c.(?_rs11630665)_(rs12912857_?)del r.(?) p.(?) Unknown - likely pathogenic g.? - - - IGF1R_000000 deletion exon 1-21 at 15q26.2; de novo, in patient - - - De novo - - - - - DNA MLPA - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - - - F - Netherlands - - - - W.A. Ester et al, table 1 shows the changes before and after GH therapy 1 Patricia Willemse
+?/. 2i_21i c.(?_rs11857366)_(rs7169385_?)del r.(?) p.(?) Unknown - likely pathogenic g.? - - - IGF1R_000000 deletion exon 3-21 at 15q26.3; de novo, in patient - - - De novo - 1/214 - - - DNA arrayCNV, MLPA - - ? - - - M - (Netherlands) - - - - - 1 Patricia Willemse
?/. - c.(?_-1)_(*1_?)del r.0 p.0 Unknown - 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 DNA arrayCNV, STR, FISH - - ?, SRS;RSS 22683032-PatSR6882 PubMed: Spengler 2012, for EUCID-SRS consortium - F - - - - - - - 1 Zeynep Tümer
-?/. 1 c.? r.(?) p.(=) Both (homozygous) - likely benign g.? - 977_980delCTTT - IGF1R_000006 - PubMed: Kawashima 2005 - - Germline - 1/24 cases - - - DNA SEQ - - ? - PubMed: Kawashima 2005 - ? - Japan - - - - - 2 Johan den Dunnen
-?/. - c.16G>A r.(?) p.(Gly6Arg) Unknown - likely benign g.99192826G>A - IGF1R(NM_000875.3):c.16G>A (p.(Gly6Arg)) - IGF1R_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.29C>G r.(?) p.(Pro10Arg) Unknown - likely benign g.99192839C>G - IGF1R(NM_000875.3):c.29C>G (p.(Pro10Arg)) - IGF1R_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.46C>T r.(?) p.(Leu16Phe) Unknown - VUS g.99192856C>T - IGF1R(NM_000875.4):c.46C>T (p.L16F) - IGF1R_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71C>G r.(?) p.(Ser24Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71C>G r.(?) p.(Ser24Trp) Unknown - VUS g.99192881C>G - IGF1R(NM_000875.3):c.71C>G (p.(Ser24Trp)) - IGF1R_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78G>T r.(?) p.(Trp26Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.83C>T r.(?) p.(Thr28Met) Unknown - VUS g.99192893C>T - IGF1R(NM_000875.5):c.83C>T (p.T28M) - IGF1R_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84G>A r.(?) p.(Thr28=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84G>A r.(?) p.(Thr28=) Unknown - likely benign g.99192894G>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94+14C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.(?_95-1)_(*1_?)del r.0? p.0? Unknown - 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 DNA arrayCNV - - SRS;RSS 19752157-PatSRS-ue-6 PubMed: Bruce 2009, for EUCID-SRS consortium - F - - - - - - - 1 Zeynep Tümer
?/. - c.142C>T r.(?) p.(Arg48Cys) Unknown - VUS g.99250838C>T - IGF1R(NM_000875.3):c.142C>T (p.(Arg48Cys)) - IGF1R_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.189C>T r.(?) p.(Leu63=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212G>A r.(?) p.(Arg71His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.225C>T r.(?) p.(Phe75=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Thr79=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Thr79=) Unknown - likely benign g.99250933G>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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.265C>G r.(?) p.(Arg89Gly) Unknown - VUS g.99250961C>G - IGF1R(NM_000875.3):c.265C>G (p.(Arg89Gly)) - IGF1R_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.265C>T r.265c>u p.Arg89* Maternal (confirmed) - pathogenic g.99250961C>T g.98707732C>T Arg59stop - IGF1R_000004 number IGF-I receptors per fibroblast low compared to controls PubMed: Abuzzahab 2003, PubMed: Raile 2006, OMIM:var0003 - - Germline - 3/184 DdeI+ - - RNA, DNA PCRdig, RT-PCR, SEQ - - IGF1RES - PubMed: Abuzzahab 2003, PubMed: Raile 2006 older brother of 16569742.c2, son of 16569742.c3 M no (Germany) - - - - - 1 Patricia Willemse
+/. 2 c.265C>T r.(?) p.(Arg89*) Maternal (confirmed) - pathogenic g.99250961C>T g.98707732C>T Arg59Ter - IGF1R_000004 heterozygous deactivation of one IGF1R allele PubMed: Raile 2006, OMIM:var0003 - - Germline - - DdeI - - DNA SEQ, Western - - IGF1RES - PubMed: Raile 2006 older brother of 14657428.p2, son of 16569742.c3; broad, round nasal tip, short broad fingers M no (Germany) - - - - - 1 Patricia Willemse
+/. 2 c.265C>T r.(?) p.(Arg89*) Unknown - pathogenic g.99250961C>T g.98707732C>T Arg59Ter - IGF1R_000004 heterozygous deactivation of one IGF1R allele PubMed: Raile 2006, OMIM:var0003 - - Germline - - DdeI - - DNA Western - - IGF1RES - {PMID16569742:Raile 2006} mother of 14657428.p2 and 16569742.c2 F - (Germany) - - - - - 1 Patricia Willemse
-?/. - c.280G>A r.(?) p.(Glu94Lys) Unknown - likely benign g.99250976G>A - IGF1R(NM_000875.3):c.280G>A (p.(Glu94Lys)) - IGF1R_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.395A>G r.(?) p.(Asn132Ser) Unknown - VUS g.99251091A>G - IGF1R(NM_000875.3):c.395A>G (p.(Asn132Ser)) - IGF1R_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.402G>A r.(?) p.(Arg134=) Unknown - benign g.99251098G>A - IGF1R(NM_000875.3):c.402G>A (p.(=)) - IGF1R_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.413G>A r.(?) p.(Arg138Gln) Paternal (confirmed) - likely pathogenic g.99251109G>A g.98707880G>A G>A, R108Q - IGF1R_000021 - PubMed: Abuzzahab 2003, OMIM:var0001 - - Germline - 1/176 - - - DNA SEQ, SSCA - - IGF1RES - PubMed: Abuzzahab 2003 - F no (United States) - - - - - 1 Patricia Willemse
?/. - c.431A>G r.(?) p.(Glu144Gly) Unknown - VUS g.99251127A>G g.98707898A>G - - IGF1R_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.435A>C r.(?) p.(Lys145Asn) Maternal (confirmed) - likely pathogenic g.99251131A>C g.98707902A>C A>C, K115N - IGF1R_000020 - PubMed: Abuzzahab 2003, OMIM:var0002 - - Germline - 1/176 - - - DNA SEQ, SSCA - - IGF1RES - PubMed: Abuzzahab 2003 - F no (United States) - - - - - 1 Patricia Willemse
?/. - c.473C>G r.(?) p.(Ser158Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568C>T r.(?) p.(Pro190Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570G>T r.(?) p.(Pro190=) Unknown - likely benign g.99251266G>T - IGF1R(NM_000875.3):c.570G>T (p.(=)) - IGF1R_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.640+20C>T r.(=) p.(=) Unknown - benign g.99251356C>T g.98708127C>T IGF1R(NM_000875.4):c.640+20C>T - IGF1R_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.641-14C>T r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664C>T r.(?) p.(Arg222Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675C>T r.(?) p.(Thr225=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3 c.699C>T r.(?) p.(Pro204=) Parent #1 - likely benign g.99434612C>T g.98891383C>T C>T Pro204Pro - IGF1R_000007 - PubMed: Kawashima 2005 - - Germline - 1/48 chromosomes - - - DNA SEQ - - ? - PubMed: Kawashima 2005 - ? no Japan - - - - - 1 Johan den Dunnen
-?/. - c.737C>T r.(?) p.(Thr246Met) Unknown - likely benign g.99434650C>T - IGF1R(NM_000875.3):c.737C>T (p.(Thr246Met)) - IGF1R_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.761A>T r.(?) p.(Tyr254Phe) Unknown - VUS g.99434674A>T - - - IGF1R_000222 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.764A>G r.(?) p.(Tyr255Cys) Unknown - VUS g.99434677A>G - IGF1R(NM_000875.3):c.764A>G (p.(Tyr255Cys)) - IGF1R_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.772G>A r.(?) p.(Gly258Ser) Unknown - VUS g.99434685G>A - IGF1R(NM_000875.3):c.772G>A (p.(Gly258Ser)) - IGF1R_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.807C>T r.(?) p.(Tyr269=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812T>C r.(?) p.(Phe271Ser) Unknown - VUS g.99434725T>C - - - IGF1R_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.835C>T r.(?) p.(Arg279Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.846C>T r.(?) p.(Cys282=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.850A>T r.(?) p.(Asn284Tyr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.864C>T r.(?) p.(Ala288=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.873C>T r.(?) p.(Ser291=) Unknown - likely benign g.99434786C>T - IGF1R(NM_000875.3):c.873C>T (p.(=)) - IGF1R_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.885G>A r.(?) p.(Gly295=) Unknown - benign g.99434798G>A - IGF1R(NM_000875.3):c.885G>A (p.(Gly295=)) - IGF1R_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885G>T r.(?) p.(Gly295=) Unknown - likely benign g.99434798G>T - IGF1R(NM_000875.3):c.885G>T (p.(=)) - IGF1R_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.897C>T r.(?) p.(His299=) Unknown - likely benign g.99434810C>T - IGF1R(NM_000875.3):c.897C>T (p.(=)) - IGF1R_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.898G>A r.(?) p.(Asp300Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.903C>A r.(?) p.(Gly301=) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.903C>A r.(?) p.(Gly301=) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.903C>A r.(=) p.(=) Parent #1 - likely benign g.99434816C>A g.98891587C>A - - IGF1R_000030 195 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229764 Germline - 195/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 195 Mohammed Faruq
-?/. - c.903C>A r.(=) p.(=) Both (homozygous) - likely benign g.99434816C>A g.98891587C>A - - IGF1R_000030 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2229764 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.942C>T r.(?) p.(Asn314=) Unknown - likely benign g.99434855C>T - IGF1R(NM_000875.3):c.942C>T (p.(=)) - IGF1R_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.943G>A r.(?) p.(Gly315Ser) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953+18G>A r.(=) p.(=) Unknown - likely benign g.99434884G>A - IGF1R(NM_000875.3):c.953+18G>A (p.(=)) - IGF1R_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954-18T>C r.(=) p.(=) Unknown - likely benign g.99439968T>C - IGF1R(NM_000875.3):c.954-18T>C (p.(=)) - IGF1R_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.954-13del r.(=) p.(=) Unknown - likely benign g.99439973del - IGF1R(NM_000875.3):c.954-13del (p.(=)) - IGF1R_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.987G>A r.(?) p.(Pro329=) Unknown - likely benign g.99440019G>A - IGF1R(NM_000875.3):c.987G>A (p.(Pro329=)) - IGF1R_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1045A>G r.(?) p.(Met349Val) Unknown - VUS g.99440077A>G - IGF1R(NM_000875.3):c.1045A>G (p.(Met349Val)) - IGF1R_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1055G>A r.(?) p.(Gly352Glu) Unknown - likely benign g.99440087G>A - IGF1R(NM_000875.3):c.1055G>A (p.(Gly352Glu)) - IGF1R_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1074C>T r.(?) p.(Gly358=) Unknown - likely pathogenic g.99440106C>T g.98896877C>T - - IGF1R_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096C>T r.(?) p.(Arg366Trp) Unknown - VUS g.99440128C>T - IGF1R(NM_000875.4):c.1096C>T (p.R366W) - IGF1R_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1102+27C>T r.(=) p.(=) Unknown - benign g.99440161C>T g.98896932C>T IGF1R(NM_000875.4):c.1102+27C>T - IGF1R_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103-17A>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157G>T r.(?) p.(Gly386Val) Unknown - VUS g.99442760G>T - IGF1R(NM_000875.3):c.1157G>T (p.(Gly386Val)) - IGF1R_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1161C>A r.(?) p.(Tyr387*) Paternal (inferred) - pathogenic (dominant) g.99442764C>A g.98899535C>A - - IGF1R_000107 - PubMed: Mohn 2011 - - Germline yes - - - - DNA SEQ - - ? Fam PubMed: Mohn 2011 2-generation family, 4 affected (3F, M), proband, sister, 2 maternal aunts (father deceaxed) F;M - Italy - - - - - 4 Johan den Dunnen
?/. - c.1162G>A r.(?) p.(Val388Met) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1162G>A r.(?) p.(Val388Met) Unknown - likely benign 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1166_1171delinsCGG r.(?) p.(Lys389_Arg391delinsThrGly) Unknown - likely pathogenic g.99442769_99442774delinsCGG - - - IGF1R_000195 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1194C>T r.(?) p.(Ser398=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1194C>T r.(?) p.(Ser398=) Unknown - likely benign g.99442797C>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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1212C>T r.(?) p.(Asn404=) Unknown - likely benign g.99442815C>T - IGF1R(NM_000875.3):c.1212C>T (p.(=)) - IGF1R_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217G>A r.(?) p.(Arg406His) Unknown - VUS g.99442820G>A - IGF1R(NM_000875.3):c.1217G>A (p.(Arg406His)) - IGF1R_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1247+3A>G r.spl? p.? Unknown - likely benign g.99442853A>G - IGF1R(NM_000875.3):c.1247+3A>G (p.?) - IGF1R_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1270G>A r.(?) p.(Asp424Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1310G>A r.(?) p.(Arg437His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336A>G r.(?) p.(Met446Val) Unknown - likely benign g.99452002A>G g.98908773A>G IGF1R(NM_000875.3):c.1336A>G (p.(Met446Val)), IGF1R(NM_000875.4):c.1336A>G (p.M446V), IGF1R(NM_000875.5):c.1336A>G (p.M446V) - IGF1R_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336A>G r.(?) p.(Met446Val) Unknown - likely benign g.99452002A>G - IGF1R(NM_000875.3):c.1336A>G (p.(Met446Val)), IGF1R(NM_000875.4):c.1336A>G (p.M446V), IGF1R(NM_000875.5):c.1336A>G (p.M446V) - IGF1R_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1336A>G r.(?) p.(Met446Val) Unknown - likely benign g.99452002A>G - IGF1R(NM_000875.3):c.1336A>G (p.(Met446Val)), IGF1R(NM_000875.4):c.1336A>G (p.M446V), IGF1R(NM_000875.5):c.1336A>G (p.M446V) - IGF1R_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1401dup r.(?) p.(Thr468AspfsTer2) Unknown - likely pathogenic g.99452067dup - - - IGF1R_000218 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1452G>A r.(?) p.(Glu484=) Unknown - likely benign g.99452118G>A - IGF1R(NM_000875.3):c.1452G>A (p.(=)) - IGF1R_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1462+15C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1462+15C>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1463-5C>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473C>T r.(?) p.(Asp491=) Unknown - likely benign g.99454554C>T - IGF1R(NM_000875.3):c.1473C>T (p.(=)) - IGF1R_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1474G>A r.(?) p.(Val492Ile) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1500G>A r.(?) p.(Thr500=) Unknown - likely benign g.99454581G>A - IGF1R(NM_000875.3):c.1500G>A (p.(=)) - IGF1R_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1502C>G r.(?) p.(Ser501Trp) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1502C>T r.(?) p.(Ser501Leu) Unknown - likely benign g.99454583C>T - IGF1R(NM_000875.3):c.1502C>T (p.(Ser501Leu)) - IGF1R_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1503G>A r.(?) p.(Ser501=) Unknown - likely benign g.99454584G>A - IGF1R(NM_000875.3):c.1503G>A (p.(=)) - IGF1R_000152 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.1532G>A r.1532g>a p.Arg511Gln Maternal (inferred) - likely pathogenic g.99454613G>A g.98911384G>A 1577G>A, R481Q - IGF1R_000003 - PubMed: Inagaki 2007, OMIM:var0005 - - Germline - - KpnI - - RNA, DNA PCRdig, RT-PCR, SEQ, Western - - Growth retardation with deafness and mental retardation due to IGF1 deficiency - PubMed: Inagaki 2007 - F - Russian Federation Russian - - - - 1 Patricia Willemse
?/. - c.1532G>A r.(?) p.(Arg511Gln) Unknown - VUS g.99454613G>A g.98911384G>A IGF1R(NM_000875.3):c.1532G>A (p.(Arg511Gln)), IGF1R(NM_000875.4):c.1532G>A (p.R511Q) - IGF1R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1532G>A r.(?) p.(Arg511Gln) Unknown - likely benign g.99454613G>A g.98911384G>A IGF1R(NM_000875.3):c.1532G>A (p.(Arg511Gln)), IGF1R(NM_000875.4):c.1532G>A (p.R511Q) - IGF1R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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