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Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


1006 records found for search term Igf1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
28872728CV869135single nucleotide variantNM_000618.5(IGF1):c.*23G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114672]uncertain significance12102402484102402484Human1name , alternate_id
155920160CV2032101single nucleotide variantNM_000618.5(IGF1):c.63+5A>Gnot provided [RCV002727345]uncertain significance12102480314102480314Humanname
11603616CV315823single nucleotide variantNM_000618.5(IGF1):c.*722G>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000301613]likely benign|uncertain significance12102401785102401785Human1name , alternate_id
11608887CV315825single nucleotide variantNM_000618.5(IGF1):c.*447G>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000361129]uncertain significance12102402060102402060Human1name , alternate_id
11605219CV322912single nucleotide variantNM_000618.5(IGF1):c.*265T>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000317017]uncertain significance12102402242102402242Human1name , alternate_id
11599206CV322913single nucleotide variantNM_000618.5(IGF1):c.*263T>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000263592]|not provided [RCV004703612]|not specified [RCV000455458]benign|likely benign12102402244102402244Human1name , alternate_id
11605372CV322919single nucleotide variantNM_000618.5(IGF1):c.*261A>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000318749]|not provided [RCV004706876]benign|likely benign12102402246102402246Human1name , alternate_id
11610854CV322925single nucleotide variantNM_000618.5(IGF1):c.*105T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000387219]|not provided [RCV004703613]likely benign|uncertain significance12102402402102402402Human1name , alternate_id
617152965CV4020857deletionNM_000618.5(IGF1):c.*263delnot provided [RCV005428610]likely benign12102402244102402244Humanname
28911866CV869125single nucleotide variantNM_000618.5(IGF1):c.*954G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111291]uncertain significance12102401553102401553Human1name , alternate_id
28911867CV869126single nucleotide variantNM_000618.5(IGF1):c.*784A>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111292]likely benign12102401723102401723Human1name , alternate_id
28911868CV869127single nucleotide variantNM_000618.5(IGF1):c.*780G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111293]uncertain significance12102401727102401727Human1name , alternate_id
28911869CV869128single nucleotide variantNM_000618.5(IGF1):c.*771T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111294]benign12102401736102401736Human1name , alternate_id
28911870CV869129single nucleotide variantNM_000618.5(IGF1):c.*662C>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111295]uncertain significance12102401845102401845Human1name , alternate_id
28869870CV869130single nucleotide variantNM_000618.5(IGF1):c.*550C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113304]uncertain significance12102401957102401957Human1name , alternate_id
28869873CV869131single nucleotide variantNM_000618.5(IGF1):c.*447G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113305]uncertain significance12102402060102402060Human1name , alternate_id
28869875CV869132single nucleotide variantNM_000618.5(IGF1):c.*306A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113306]benign12102402201102402201Human1name , alternate_id
28869878CV869133single nucleotide variantNM_000618.5(IGF1):c.*260A>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113307]|not provided [RCV004693688]uncertain significance12102402247102402247Human1name , alternate_id
28872725CV869134single nucleotide variantNM_000618.5(IGF1):c.*259A>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114671]|not provided [RCV003389860]likely benign12102402248102402248Human1name , alternate_id
405042021CV3154068single nucleotide variantNM_000618.5(IGF1):c.63+13T>Anot provided [RCV003848936]likely benign12102480306102480306Humanname
11611157CV315777single nucleotide variantNM_000618.5(IGF1):c.*6433G>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000391004]|not provided [RCV004706868]benign|likely benign12102396074102396074Human1name , alternate_id
11599719CV315778single nucleotide variantNM_000618.5(IGF1):c.*5533C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000268087]uncertain significance12102396974102396974Human1name , alternate_id
11608378CV315783single nucleotide variantNM_000618.5(IGF1):c.*5449G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000354582]uncertain significance12102397058102397058Human1name , alternate_id
11661220CV315785single nucleotide variantNM_000618.5(IGF1):c.*5187A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000374251]uncertain significance12102397320102397320Human1name , alternate_id
11647160CV315786single nucleotide variantNM_000618.5(IGF1):c.*5079T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000274806]uncertain significance12102397428102397428Human1name , alternate_id
11656001CV315790single nucleotide variantNM_000618.5(IGF1):c.*4980T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000329923]uncertain significance12102397527102397527Human1name , alternate_id
11662782CV315792single nucleotide variantNM_000618.5(IGF1):c.*4940C>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000389180]uncertain significance12102397567102397567Human1name , alternate_id
11610354CV315793single nucleotide variantNM_000618.5(IGF1):c.*4540C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000380761]uncertain significance12102397967102397967Human1name , alternate_id
11647680CV315797single nucleotide variantNM_000618.5(IGF1):c.*3933G>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000277563]uncertain significance12102398574102398574Human1name , alternate_id
11655942CV315798duplicationNM_000618.5(IGF1):c.*3707dupGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000329426]uncertain significance12102398799102398800Human1name , alternate_id
11611305CV315806single nucleotide variantNM_000618.5(IGF1):c.*3388C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000392965]|not provided [RCV004708217]benign|likely benign12102399119102399119Human1name , alternate_id
11604622CV315807single nucleotide variantNM_000618.5(IGF1):c.*3226C>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000311101]|not provided [RCV004706873]benign|uncertain significance12102399281102399281Human1name , alternate_id
11655765CV315811duplicationNM_000618.5(IGF1):c.*2377dupGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000328059]uncertain significance12102400129102400130Human1name , alternate_id
11645299CV315812deletionNM_000618.5(IGF1):c.*2375delGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000264611]|not provided [RCV004693081]uncertain significance12102400132102400132Human1name , alternate_id
11607893CV315820single nucleotide variantNM_000618.5(IGF1):c.*1770C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000348790]|not provided [RCV004708219]benign12102400737102400737Human1name , alternate_id
11657944CV315821single nucleotide variantNM_000618.5(IGF1):c.*1386G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000345215]uncertain significance12102401121102401121Human1name , alternate_id
11664680CV315822single nucleotide variantNM_000618.5(IGF1):c.*1354A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000407954]pathogenic|uncertain significance12102401153102401153Human1name , alternate_id
11605443CV322844single nucleotide variantNM_000618.5(IGF1):c.*5270T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000319636]benign|likely benign12102397237102397237Human1name , alternate_id
11602427CV322847single nucleotide variantNM_000618.5(IGF1):c.*4536T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000290971]benign|uncertain significance12102397971102397971Human1name , alternate_id
11658039CV322859single nucleotide variantNM_000618.5(IGF1):c.*4525C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000345937]uncertain significance12102397982102397982Human1name , alternate_id
11657637CV322871single nucleotide variantNM_000618.5(IGF1):c.*4413T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000342675]uncertain significance12102398094102398094Human1name , alternate_id
11609368CV322872single nucleotide variantNM_000618.5(IGF1):c.*4008C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000367449]likely benign|uncertain significance12102398499102398499Human1name , alternate_id
11662073CV322875single nucleotide variantNM_000618.5(IGF1):c.*3915A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000382474]uncertain significance12102398592102398592Human1name , alternate_id
11599929CV322881single nucleotide variantNM_000618.5(IGF1):c.*3716G>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000269740]uncertain significance12102398791102398791Human1name , alternate_id
11603490CV322899single nucleotide variantNM_000618.5(IGF1):c.*3366C>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000300487]uncertain significance12102399141102399141Human1name , alternate_id
11612189CV322903single nucleotide variantNM_000618.5(IGF1):c.*2827C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000404888]uncertain significance12102399680102399680Human1name , alternate_id
11609006CV322905single nucleotide variantNM_000618.5(IGF1):c.*2652T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000362408]|not provided [RCV001690018]benign12102399855102399855Human2name , alternate_id
11609006CV322905single nucleotide variantNM_000618.5(IGF1):c.*2652T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000362408]|not provided [RCV001690018]benign12102399855102399856Human2name , alternate_id
11659598CV322906deletionNM_000618.5(IGF1):c.*2376delGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000359397]uncertain significance12102400131102400131Human1name , alternate_id
11635271CV322907duplicationNM_000618.5(IGF1):c.*2375dupGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000324496]uncertain significance12102400131102400132Human1name , alternate_id
11605431CV322911single nucleotide variantNM_000618.5(IGF1):c.*2266T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000319532]|not provided [RCV004706875]benign|likely benign12102400241102400241Human1name , alternate_id
11647919CV328881single nucleotide variantNM_000618.5(IGF1):c.*6598T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000279255]uncertain significance12102395909102395909Human1name , alternate_id
11658533CV328889single nucleotide variantNM_000618.5(IGF1):c.*6243A>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000349626]uncertain significance12102396264102396264Human1name , alternate_id
11663005CV328890single nucleotide variantNM_000618.5(IGF1):c.*6227G>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000391168]uncertain significance12102396280102396280Human1name , alternate_id
11625937CV328907single nucleotide variantNM_000618.5(IGF1):c.*6093G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000404618]|not provided [RCV004706870]benign|likely benign12102396414102396414Human2name , alternate_id
11625937CV328907single nucleotide variantNM_000618.5(IGF1):c.*6093G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000404618]|not provided [RCV004706870]benign|likely benign12102396414102396415Human2name , alternate_id
11652189CV328913single nucleotide variantNM_000618.5(IGF1):c.*5844A>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000303419]uncertain significance12102396663102396663Human1name , alternate_id
11622265CV328921duplicationNM_000618.5(IGF1):c.*5718dupGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000358175]benign12102396788102396789Human1name , alternate_id
11617457CV328922single nucleotide variantNM_000618.5(IGF1):c.*5505T>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000304519]|not provided [RCV004706871]benign12102397002102397002Human1name , alternate_id
11650836CV328925single nucleotide variantNM_000618.5(IGF1):c.*4699C>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000294947]uncertain significance12102397808102397808Human1name , alternate_id
11624959CV328929deletionNM_000618.5(IGF1):c.*4484delGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000392650]likely benign12102398023102398023Human1name , alternate_id
11644908CV328945single nucleotide variantNM_000618.5(IGF1):c.*4368C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000262375]pathogenic|likely benign|uncertain significance12102398139102398139Human1name , alternate_id
11618312CV328946single nucleotide variantNM_000618.5(IGF1):c.*4107T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000312818]likely benign|uncertain significance12102398400102398400Human1name , alternate_id
11662256CV328948single nucleotide variantNM_000618.5(IGF1):c.*3615T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000384119]uncertain significance12102398892102398892Human1name , alternate_id
11615387CV328951single nucleotide variantNM_000618.5(IGF1):c.*3552C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000285070]|not provided [RCV004706872]benign|uncertain significance12102398955102398955Human1name , alternate_id
11624992CV328960single nucleotide variantNM_000618.5(IGF1):c.*3360G>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000392979]uncertain significance12102399147102399147Human1name , alternate_id
11613958CV328967single nucleotide variantNM_000618.5(IGF1):c.*2499T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000272995]pathogenic|benign12102400008102400008Human1name , alternate_id
11648075CV328970single nucleotide variantNM_000618.5(IGF1):c.*2362A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000279889]uncertain significance12102400145102400145Human1name , alternate_id
11623523CV328971single nucleotide variantNM_000618.5(IGF1):c.*2266T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000374174]likely benign|uncertain significance12102400241102400241Human1name , alternate_id
11650625CV328977single nucleotide variantNM_000618.5(IGF1):c.*2195G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000293841]uncertain significance12102400312102400312Human1name , alternate_id
11625497CV328981single nucleotide variantNM_000618.5(IGF1):c.*1753C>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000399689]likely benign|uncertain significance12102400754102400754Human1name , alternate_id
11660163CV328982single nucleotide variantNM_000618.5(IGF1):c.*1033A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000364548]uncertain significance12102401474102401474Human1name , alternate_id
11623315CV330126single nucleotide variantNM_000618.5(IGF1):c.*6622A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000371468]|not provided [RCV004693078]uncertain significance12102395885102395885Human1name , alternate_id
11616195CV330127single nucleotide variantNM_000618.5(IGF1):c.*6384C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000292383]|not provided [RCV004706869]benign|likely benign12102396123102396123Human1name , alternate_id
11653300CV330131single nucleotide variantNM_000618.5(IGF1):c.*6181T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000310093]uncertain significance12102396326102396326Human1name , alternate_id
11659936CV330137single nucleotide variantNM_000618.5(IGF1):c.*6119G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000362486]uncertain significance12102396388102396388Human1name , alternate_id
11644394CV330139single nucleotide variantNM_000618.5(IGF1):c.*5332G>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000259664]uncertain significance12102397175102397175Human1name , alternate_id
11657909CV330142single nucleotide variantNM_000618.5(IGF1):c.*4669G>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000344880]uncertain significance12102397838102397838Human1name , alternate_id
11624930CV330151single nucleotide variantNM_000618.5(IGF1):c.*4411T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000392655]likely benign|uncertain significance12102398096102398096Human1name , alternate_id
11622159CV330163single nucleotide variantNM_000618.5(IGF1):c.*4404G>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000357290]uncertain significance12102398103102398103Human1name , alternate_id
11620090CV330166single nucleotide variantNM_000618.5(IGF1):c.*3923T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000332556]uncertain significance12102398584102398584Human1name , alternate_id
11623258CV330183single nucleotide variantNM_000618.5(IGF1):c.*3190A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000370382]uncertain significance12102399317102399317Human1name , alternate_id
11617796CV330185single nucleotide variantNM_000618.5(IGF1):c.*2716G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000307677]|not provided [RCV004708218]benign12102399791102399791Human1name , alternate_id
11623921CV330186single nucleotide variantNM_000618.5(IGF1):c.*2364A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000378960]|not provided [RCV004706874]benign|likely benign12102400143102400143Human2name , alternate_id
11623921CV330186single nucleotide variantNM_000618.5(IGF1):c.*2364A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000378960]|not provided [RCV004706874]benign|likely benign12102400143102400144Human2name , alternate_id
11616456CV330187single nucleotide variantNM_000618.5(IGF1):c.*1724C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000295007]uncertain significance12102400783102400783Human1name , alternate_id
11618080CV330189single nucleotide variantNM_000618.5(IGF1):c.*1319A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000309832]uncertain significance12102401188102401188Human1name , alternate_id
407503632CV3495836single nucleotide variantNM_000618.5(IGF1):c.220+2T>Anot provided [RCV004697676]likely pathogenic12102475641102475641Humanname
13838372CV589674single nucleotide variantNM_000618.5(IGF1):c.220+1G>Tnot provided [RCV000735047]likely pathogenic12102475642102475642Humanname
28911701CV869086single nucleotide variantNM_000618.5(IGF1):c.*6583A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111022]uncertain significance12102395924102395924Human1name , alternate_id
28911702CV869087single nucleotide variantNM_000618.5(IGF1):c.*6311T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111023]benign12102396196102396196Human1name , alternate_id
28869204CV869088single nucleotide variantNM_000618.5(IGF1):c.*5991C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113014]uncertain significance12102396516102396516Human1name , alternate_id
28869208CV869089single nucleotide variantNM_000618.5(IGF1):c.*5930A>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113015]uncertain significance12102396577102396577Human1name , alternate_id
28869211CV869090single nucleotide variantNM_000618.5(IGF1):c.*5670C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113016]uncertain significance12102396837102396837Human1name , alternate_id
28872103CV869091single nucleotide variantNM_000618.5(IGF1):c.*5538C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114392]uncertain significance12102396969102396969Human1name , alternate_id
28872105CV869092single nucleotide variantNM_000618.5(IGF1):c.*5332G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114393]uncertain significance12102397175102397175Human1name , alternate_id
28872108CV869093single nucleotide variantNM_000618.5(IGF1):c.*5289T>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114394]uncertain significance12102397218102397218Human1name , alternate_id
28911319CV869094single nucleotide variantNM_000618.5(IGF1):c.*5202T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001110356]benign12102397305102397305Human1name , alternate_id
28911320CV869095single nucleotide variantNM_000618.5(IGF1):c.*5164C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001110357]uncertain significance12102397343102397343Human1name , alternate_id
28911321CV869096single nucleotide variantNM_000618.5(IGF1):c.*4758G>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001110358]uncertain significance12102397749102397749Human1name , alternate_id
28911747CV869097single nucleotide variantNM_000618.5(IGF1):c.*4739C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111101]likely benign12102397768102397768Human1name , alternate_id
28911748CV869098single nucleotide variantNM_000618.5(IGF1):c.*4519T>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111102]uncertain significance12102397988102397988Human1name , alternate_id
28911749CV869099single nucleotide variantNM_000618.5(IGF1):c.*4488T>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111103]uncertain significance12102398019102398019Human1name , alternate_id
28869384CV869100single nucleotide variantNM_000618.5(IGF1):c.*4410T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113093]|not provided [RCV003393848]likely benign12102398097102398097Human1name , alternate_id
28869387CV869101single nucleotide variantNM_000618.5(IGF1):c.*4409T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113094]uncertain significance12102398098102398098Human1name , alternate_id
28869389CV869102single nucleotide variantNM_000618.5(IGF1):c.*4009G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113095]benign12102398498102398498Human1name , alternate_id
28872292CV869103single nucleotide variantNM_000618.5(IGF1):c.*4007G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114473]uncertain significance12102398500102398500Human1name , alternate_id
28872294CV869104single nucleotide variantNM_000618.5(IGF1):c.*3971A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114474]|not provided [RCV004709024]benign12102398536102398536Human1name , alternate_id
28872296CV869105single nucleotide variantNM_000618.5(IGF1):c.*3890G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114475]uncertain significance12102398617102398617Human1name , alternate_id
28872299CV869106single nucleotide variantNM_000618.5(IGF1):c.*3800G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114476]uncertain significance12102398707102398707Human1name , alternate_id
28911379CV869107single nucleotide variantNM_000618.5(IGF1):c.*2968C>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001110448]pathogenic|uncertain significance12102399539102399539Human1name , alternate_id
28911795CV869108single nucleotide variantNM_000618.5(IGF1):c.*2908T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111191]uncertain significance12102399599102399599Human1name , alternate_id
28911796CV869109single nucleotide variantNM_000618.5(IGF1):c.*2820A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111192]uncertain significance12102399687102399687Human1name , alternate_id
28869643CV869110single nucleotide variantNM_000618.5(IGF1):c.*2241C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113199]uncertain significance12102400266102400266Human1name , alternate_id
28869646CV869111single nucleotide variantNM_000618.5(IGF1):c.*2212G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113200]uncertain significance12102400295102400295Human1name , alternate_id
28869648CV869112single nucleotide variantNM_000618.5(IGF1):c.*2197A>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113201]uncertain significance12102400310102400310Human1name , alternate_id
28869652CV869113single nucleotide variantNM_000618.5(IGF1):c.*2047C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113202]uncertain significance12102400460102400460Human1name , alternate_id
28869653CV869114single nucleotide variantNM_000618.5(IGF1):c.*2047C>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001113203]uncertain significance12102400460102400460Human1name , alternate_id
28872485CV869115single nucleotide variantNM_000618.5(IGF1):c.*2006C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114568]uncertain significance12102400501102400501Human1name , alternate_id
28872489CV869116single nucleotide variantNM_000618.5(IGF1):c.*1940T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114569]uncertain significance12102400567102400567Human1name , alternate_id
28872492CV869117single nucleotide variantNM_000618.5(IGF1):c.*1849G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114570]uncertain significance12102400658102400658Human1name , alternate_id
28872495CV869118single nucleotide variantNM_000618.5(IGF1):c.*1718T>GGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001114571]uncertain significance12102400789102400789Human1name , alternate_id
28910151CV869119single nucleotide variantNM_000618.5(IGF1):c.*1643G>AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001108936]uncertain significance12102400864102400864Human1name , alternate_id
28910153CV869120single nucleotide variantNM_000618.5(IGF1):c.*1489T>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001108937]uncertain significance12102401018102401018Human1name , alternate_id
28910155CV869121single nucleotide variantNM_000618.5(IGF1):c.*1398C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001108938]uncertain significance12102401109102401109Human1name , alternate_id
28910157CV869122single nucleotide variantNM_000618.5(IGF1):c.*1204C>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001108939]uncertain significance12102401303102401303Human1name , alternate_id
28910159CV869123single nucleotide variantNM_000618.5(IGF1):c.*1157G>TGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001108940]pathogenic|uncertain significance12102401350102401350Human1name , alternate_id
28911865CV869124single nucleotide variantNM_000618.5(IGF1):c.*1054G>CGrowth delay due to insulin-like growth factor type 1 deficiency [RCV001111290]uncertain significance12102401453102401453Human1name , alternate_id
597914141CV3740598single nucleotide variantNM_000618.5(IGF1):c.220+10C>Tnot provided [RCV005073935]likely benign12102475633102475633Humanname
597883067CV3741243single nucleotide variantNM_000618.5(IGF1):c.221-18T>Cnot provided [RCV005070150]likely benign12102419708102419708Humanname
11613212CV328988microsatelliteNM_000618.5(IGF1):c.*262AT[10]Growth delay due to insulin-like growth factor type 1 deficiency [RCV000266492]|not provided [RCV004693082]uncertain significance12102402227102402228Humanname , alternate_id
11635658CV315799microsatelliteNM_000618.5(IGF1):c.*3362CA[23]Growth delay due to insulin-like growth factor type 1 deficiency [RCV000380407]uncertain significance12102399107102399108Humanname , alternate_id
11635366CV322885microsatelliteNM_000618.5(IGF1):c.*3362CA[20]Growth delay due to insulin-like growth factor type 1 deficiency [RCV000339812]|not provided [RCV004693079]uncertain significance12102399107102399108Humanname , alternate_id
11656788CV322897microsatelliteNM_000618.5(IGF1):c.*3362CA[17]Growth delay due to insulin-like growth factor type 1 deficiency [RCV000336481]|not provided [RCV004693080]uncertain significance12102399108102399111Humanname , alternate_id
11649225CV328959microsatelliteNM_000618.5(IGF1):c.*3362CA[18]Growth delay due to insulin-like growth factor type 1 deficiency [RCV000286202]uncertain significance12102399108102399109Humanname , alternate_id
12849502CV363813single nucleotide variantNM_000618.5(IGF1):c.402+1663C>Anot provided [RCV000431035]likely benign12102417846102417846Humanname
616934164CV4012140single nucleotide variantNM_000618.5(IGF1):c.402+1534C>Tnot specified [RCV005409174]likely benign12102417975102417975Humanname
405284108CV3213587duplicationNM_000618.5(IGF1):c.*261_*262dupIGF1-related disorder [RCV003922159]likely benign12102402244102402245Humanname , trait , alternate_id
11625868CV328986deletionNM_000618.5(IGF1):c.*753_*754delGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000404218]likely benign12102401753102401754Human1name , alternate_id
8653473CV130048single nucleotide variantNM_001111283.1(IGF1):c.451+5018A>GLung cancer [RCV000110535]uncertain significance12102412937102412937Humanname
11651207CV330159deletionNM_000618.5(IGF1):c.*4404_*4407delGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000297735]uncertain significance12102398100102398103Human1name , alternate_id
11651885CV315794insertionNM_000618.5(IGF1):c.*4421_*4422insTGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000301687]uncertain significance12102398085102398086Human1name , alternate_id
28910284CV869138single nucleotide variantNM_000618.5(IGF1):c.90G>A (p.Ser30=)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001109042]|IGF1-related disorder [RCV003973076]|not provided [RCV002069774]likely benign|uncertain significance12102475773102475773Human1name , alternate_id
151732472CV1378415single nucleotide variantNM_000618.5(IGF1):c.16A>T (p.Ser6Cys)not provided [RCV002041349]uncertain significance12102480366102480366Humanname
152058858CV1532654single nucleotide variantNM_000618.5(IGF1):c.162C>T (p.Cys54=)not provided [RCV002208414]likely benign12102475701102475701Humanname
152160408CV1652068single nucleotide variantNM_000618.5(IGF1):c.108G>A (p.Ala36=)not provided [RCV002180833]likely benign12102475755102475755Humanname
156414668CV1909010single nucleotide variantNM_000618.5(IGF1):c.258G>A (p.Ala86=)not provided [RCV002588740]likely benign12102419653102419653Humanname
10050655CV192256single nucleotide variantNM_000618.5(IGF1):c.207G>A (p.Arg69=)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114677]|not provided [RCV000175635]conflicting interpretations of pathogenicity|uncertain significance12102475656102475656Human1name , alternate_id
156337059CV1964003single nucleotide variantNM_000618.5(IGF1):c.273C>T (p.Ile91=)not provided [RCV002580300]likely benign12102419638102419638Humanname
156343280CV2364089single nucleotide variantNM_000618.5(IGF1):c.19C>T (p.Leu7Phe)Inborn genetic diseases [RCV002674701]|not specified [RCV005406627]uncertain significance12102480363102480363Human1name
401932310CV2816784single nucleotide variantNM_000618.5(IGF1):c.135T>A (p.Ser45=)not provided [RCV003391962]likely benign12102475728102475728Humanname
402512056CV3178431single nucleotide variantNM_000618.5(IGF1):c.141G>A (p.Thr47=)not provided [RCV003879048]likely benign12102475722102475722Humanname
13835579CV586840single nucleotide variantNM_000618.5(IGF1):c.156G>A (p.Thr52=)IGF1-related disorder [RCV003947930]|not provided [RCV000884004]|not specified [RCV000731419]benign|likely benign12102475707102475707Human1name , alternate_id
15175967CV738394single nucleotide variantNM_000618.5(IGF1):c.285C>T (p.Cys95=)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114676]|IGF1-related disorder [RCV003923079]|not provided [RCV000906331]likely benign12102419626102419626Human1name , alternate_id
15110782CV753049single nucleotide variantNM_000618.5(IGF1):c.297C>T (p.Ser99=)not provided [RCV000916604]likely benign12102419614102419614Humanname
28910282CV869137single nucleotide variantNM_000618.5(IGF1):c.150G>A (p.Pro50=)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001109041]uncertain significance12102475713102475713Human1name , alternate_id
151793247CV1467653single nucleotide variantNM_000618.5(IGF1):c.402G>A (p.Lys134=)not provided [RCV001931622]uncertain significance12102419509102419509Humanname
152103452CV1548569single nucleotide variantNM_000618.5(IGF1):c.324T>C (p.Tyr108=)not provided [RCV002079284]likely benign12102419587102419587Humanname
152133205CV1588369single nucleotide variantNM_000618.5(IGF1):c.381C>T (p.Thr127=)not provided [RCV002199598]likely benign12102419530102419530Humanname
156258165CV2159346single nucleotide variantNM_000618.5(IGF1):c.65T>A (p.Val22Glu)not provided [RCV003026570]uncertain significance12102475798102475798Humanname
329847734CV2524483deletionNM_000618.5(IGF1):c.103del (p.Leu35fs)not provided [RCV003227375]likely pathogenic12102475760102475760Humanname
11658919CV315826indelNM_000618.5(IGF1):c.*263_*265delinsAAAGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000353163]uncertain significance12102402242102402244Humanname , alternate_id
11656807CV330175insertionNM_000618.5(IGF1):c.*3365_*3366insGACAGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000336611]uncertain significance12102399141102399142Human1name , alternate_id
405853183CV3393616single nucleotide variantNM_000618.5(IGF1):c.315G>T (p.Leu105=)not provided [RCV004546346]likely benign12102419596102419596Humanname
597954871CV3786772deletionNM_000618.5(IGF1):c.205del (p.Arg69fs)not provided [RCV005121863]pathogenic12102475658102475658Humanname
616934147CV4012161single nucleotide variantNM_000618.5(IGF1):c.315G>A (p.Leu105=)not specified [RCV005409195]likely benign12102419596102419596Humanname
15175070CV713284single nucleotide variantNM_000618.5(IGF1):c.462G>A (p.Ter154=)not provided [RCV000972857]likely benign12102402507102402507Humanname
25317082CV805022duplicationNM_000618.5(IGF1):c.156dup (p.Leu53fs)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001007823]likely pathogenic12102475706102475707Human1name , alternate_id
28872730CV869136single nucleotide variantNM_000618.5(IGF1):c.384C>T (p.Asp128=)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114673]|not provided [RCV003679036]likely benign|uncertain significance12102419527102419527Human1name , alternate_id
28910286CV869139single nucleotide variantNM_000618.5(IGF1):c.45C>G (p.Cys15Trp)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001109043]|Inborn genetic diseases [RCV002558093]|not provided [RCV001856456]uncertain significance12102480337102480337Human2name , alternate_id
150531229CV1299346single nucleotide variantNM_000618.5(IGF1):c.162C>G (p.Cys54Trp)not provided [RCV001757039]uncertain significance12102475701102475701Humanname
8657465CV132700single nucleotide variantNM_000618.5(IGF1):c.292C>T (p.Arg98Trp)Growth delay due to insulin-like growth factor type 1 deficiency [RCV000115041]|not provided [RCV001854545]pathogenic|uncertain significance12102419619102419619Human1name , alternate_id
151883575CV1452406single nucleotide variantNM_000618.5(IGF1):c.293G>A (p.Arg98Gln)not provided [RCV002037369]uncertain significance12102419618102419618Humanname
151778434CV1477119single nucleotide variantNM_000618.5(IGF1):c.257C>T (p.Ala86Val)not provided [RCV001897014]uncertain significance12102419654102419654Humanname
151808538CV1483533single nucleotide variantNM_000618.5(IGF1):c.251G>A (p.Arg84Gln)not provided [RCV001918380]uncertain significance12102419660102419660Humanname
156287190CV2012875single nucleotide variantNM_000618.5(IGF1):c.133T>C (p.Ser45Pro)not provided [RCV002715509]uncertain significance12102475730102475730Humanname
156205607CV2146797single nucleotide variantNM_000618.5(IGF1):c.245G>A (p.Ser82Asn)not provided [RCV003006484]uncertain significance12102419666102419666Humanname
401914129CV2830567single nucleotide variantNM_000618.5(IGF1):c.209G>A (p.Gly70Asp)not provided [RCV003442305]uncertain significance12102475654102475654Humanname
8599962CV29828single nucleotide variantNM_000618.5(IGF1):c.274G>A (p.Val92Met)Growth delay due to insulin-like growth factor type 1 deficiency [RCV000015912]|not provided [RCV002264908]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity12102419637102419637Human1name , alternate_id
11602691CV315837single nucleotide variantNM_000618.5(IGF1):c.107C>T (p.Ala36Val)Growth delay due to insulin-like growth factor type 1 deficiency [RCV000292940]uncertain significance12102475756102475756Human1name , alternate_id
25314713CV818294single nucleotide variantNM_000618.5(IGF1):c.285C>A (p.Cys95Ter)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001029775]pathogenic|likely pathogenic12102419626102419626Human1name , alternate_id
126730818CV1020963single nucleotide variantNM_000618.5(IGF1):c.421G>T (p.Ala141Ser)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001333539]uncertain significance12102402548102402548Human1name , alternate_id
126912883CV1038117single nucleotide variantNM_000618.5(IGF1):c.380C>T (p.Thr127Ile)not provided [RCV001356876]uncertain significance12102419531102419531Humanname
151870035CV1395309single nucleotide variantNM_000618.5(IGF1):c.344C>T (p.Ala115Val)not provided [RCV002035540]uncertain significance12102419567102419567Humanname
151748852CV1460283deletionNM_000618.5(IGF1):c.34_37del (p.Phe12fs)not provided [RCV001894115]pathogenic12102480345102480348Humanname
155796827CV1860923single nucleotide variantNM_000618.5(IGF1):c.320T>G (p.Met107Arg)Growth delay due to insulin-like growth factor type 1 deficiency [RCV002468523]uncertain significance12102419591102419591Human1name , alternate_id
155947218CV1935706single nucleotide variantNM_000618.5(IGF1):c.316G>A (p.Glu106Lys)not provided [RCV002511456]uncertain significance12102419595102419595Humanname
329374607CV2430957single nucleotide variantNM_000618.5(IGF1):c.356G>A (p.Arg119His)Inborn genetic diseases [RCV003173501]uncertain significance12102419555102419555Human1name
329954753CV2670682single nucleotide variantNM_000618.5(IGF1):c.352G>C (p.Ala118Pro)not provided [RCV003235950]uncertain significance12102419559102419559Humanname
11642035CV272303single nucleotide variantNM_000618.5(IGF1):c.352G>A (p.Ala118Thr)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114674]|IGF1-related disorder [RCV003417904]|Inborn genetic diseases [RCV002519298]|not provided [RCV000726113]|not specified [RCV004586666]uncertain significance12102419559102419559Human2name , alternate_id
11642502CV275351single nucleotide variantNM_000618.5(IGF1):c.421G>A (p.Ala141Thr)not provided [RCV000376776]uncertain significance12102402548102402548Humanname
401897483CV2787088single nucleotide variantNM_000618.5(IGF1):c.376C>A (p.His126Asn)Inborn genetic diseases [RCV003375129]uncertain significance12102419535102419535Human1name
408367210CV3500190single nucleotide variantNM_000618.5(IGF1):c.322T>C (p.Tyr108His)not provided [RCV004722233]uncertain significance12102419589102419589Humanname
597699497CV3680071single nucleotide variantNM_000618.5(IGF1):c.365G>A (p.Arg122His)Inborn genetic diseases [RCV004987717]|not provided [RCV005061769]uncertain significance12102419546102419546Human1name
15199677CV702060single nucleotide variantNM_000618.5(IGF1):c.343G>A (p.Ala115Thr)Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114675]|not provided [RCV000957108]benign12102419568102419568Human1name , alternate_id
38597032CV801881single nucleotide variantNM_000618.5(IGF1):c.401A>G (p.Lys134Arg)Microcephaly [RCV001252826]uncertain significance12102419510102419510Human2name
38596456CV963736single nucleotide variantNM_000618.5(IGF1):c.447G>C (p.Lys149Asn)Intellectual disability [RCV001251776]likely benign12102402522102402522Human2name
8564451CV29826deletionNG_011713.1:g.(9959_65910)_(67647_83034)delGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000015910]pathogenicHuman1alternate_id
8564452CV29827single nucleotide variantIGF1, MUTATION IN POLYADENYLATION SIGNAL, T-AGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000015911]pathogenicHumanalternate_id
11658687CV328883indelNM_000618.5(IGF1):c.*6490_*6493delinsCTAAAATGTAACTAATTGAATAGrowth delay due to insulin-like growth factor type 1 deficiency [RCV000350795]uncertain significance12102396014102396017Humanname , alternate_id
405854712CV3394819copy number lossGRCh37/hg19 12q23.2(chr12:102771260-103025475)x1Growth delay due to insulin-like growth factor type 1 deficiency [RCV004551159]pathogenicHumanalternate_id
152984227CV1675166single nucleotide variantNM_000875.5(IGF1R):c.-4A>GIGF1R-related disorder [RCV004533992]|not specified [RCV002238582]uncertain significance159864957898649578Human1name , alternate_id
401930112CV2814519deletionNM_000875.5(IGF1R):c.*62delnot provided [RCV003390562]likely benign159895749798957497Humanname
11599725CV323633single nucleotide variantNM_000875.5(IGF1R):c.*49C>TGrowth delay due to insulin-like growth factor I resistance [RCV000268140]uncertain significance159895749198957491Human1name
11599073CV323634single nucleotide variantNM_000875.5(IGF1R):c.*55G>AGrowth delay due to insulin-like growth factor I resistance [RCV000262417]uncertain significance159895749798957497Human1name
11605464CV323636single nucleotide variantNM_000875.5(IGF1R):c.*57G>CGrowth delay due to insulin-like growth factor I resistance [RCV000319940]uncertain significance159895749998957499Human1name
11659597CV323642duplicationNM_000875.5(IGF1R):c.*62dupGrowth delay due to insulin-like growth factor I resistance [RCV000359392]uncertain significance159895749698957497Human1name
11622431CV333341single nucleotide variantNM_000875.5(IGF1R):c.*43G>AGrowth delay due to insulin-like growth factor I resistance [RCV000360371]likely benign|uncertain significance159895748598957485Human1name
11615637CV340116single nucleotide variantNM_000875.5(IGF1R):c.-43T>CGrowth delay due to insulin-like growth factor I resistance [RCV000287895]uncertain significance159864953998649539Human1name
11617809CV340137single nucleotide variantNM_000875.5(IGF1R):c.*15A>GGrowth delay due to insulin-like growth factor I resistance [RCV000308113]likely benign159895745798957457Human1name
11635073CV340138duplicationNM_000875.5(IGF1R):c.*54dupGrowth delay due to insulin-like growth factor I resistance [RCV000302343]uncertain significance159895749598957496Human1name
11666964CV353335single nucleotide variantNM_000875.5(IGF1R):c.-51T>CGrowth delay due to insulin-like growth factor I resistance [RCV000400837]|not provided [RCV004716412]benign|likely benign159864953198649531Human1name
28885701CV874357single nucleotide variantNM_000875.5(IGF1R):c.*42C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119133]uncertain significance159895748498957484Human1name
28885707CV874358single nucleotide variantNM_000875.5(IGF1R):c.*44C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119134]uncertain significance159895748698957486Human1name
28891833CV874359single nucleotide variantNM_000875.5(IGF1R):c.*55G>CGrowth delay due to insulin-like growth factor I resistance [RCV001121123]uncertain significance159895749798957497Human1name
28891835CV874360single nucleotide variantNM_000875.5(IGF1R):c.*63A>GGrowth delay due to insulin-like growth factor I resistance [RCV001121124]likely benign159895750598957505Human1name
28891837CV874361single nucleotide variantNM_000875.5(IGF1R):c.*83A>GGrowth delay due to insulin-like growth factor I resistance [RCV001121125]uncertain significance159895752598957525Human1name
11602755CV323643single nucleotide variantNM_000875.5(IGF1R):c.*213C>AGrowth delay due to insulin-like growth factor I resistance [RCV000293406]uncertain significance159895765598957655Human1name
11610621CV323646single nucleotide variantNM_000875.5(IGF1R):c.*291C>AGrowth delay due to insulin-like growth factor I resistance [RCV000384146]uncertain significance159895773398957733Human1name
11602072CV323648single nucleotide variantNM_000875.5(IGF1R):c.*346C>TGrowth delay due to insulin-like growth factor I resistance [RCV000287523]uncertain significance159895778898957788Human1name
11659338CV323657single nucleotide variantNM_000875.5(IGF1R):c.*641G>AGrowth delay due to insulin-like growth factor I resistance [RCV000356849]uncertain significance159895808398958083Human1name
11598764CV323659single nucleotide variantNM_000875.5(IGF1R):c.*712G>AGrowth delay due to insulin-like growth factor I resistance [RCV000259697]uncertain significance159895815498958154Human1name
11660755CV323660single nucleotide variantNM_000875.5(IGF1R):c.*806T>CGrowth delay due to insulin-like growth factor I resistance [RCV000369829]uncertain significance159895824898958248Human1name
11656414CV333350single nucleotide variantNM_000875.5(IGF1R):c.*149C>TGrowth delay due to insulin-like growth factor I resistance [RCV000333286]uncertain significance159895759198957591Human1name
11662391CV333351single nucleotide variantNM_000875.5(IGF1R):c.*199C>TGrowth delay due to insulin-like growth factor I resistance [RCV000385436]uncertain significance159895764198957641Human1name
11647678CV333357single nucleotide variantNM_000875.5(IGF1R):c.*837C>TGrowth delay due to insulin-like growth factor I resistance [RCV000277561]uncertain significance159895827998958279Human1name
11656045CV333359duplicationNM_000875.5(IGF1R):c.*866dupGrowth delay due to insulin-like growth factor I resistance [RCV000330272]uncertain significance159895830398958304Human1name
11613837CV333360single nucleotide variantNM_000875.5(IGF1R):c.*910C>TGrowth delay due to insulin-like growth factor I resistance [RCV000271795]|not provided [RCV004703690]likely benign159895835298958352Human1name
11614315CV340139single nucleotide variantNM_000875.5(IGF1R):c.*134C>TGrowth delay due to insulin-like growth factor I resistance [RCV000275927]|not provided [RCV004705329]likely benign|uncertain significance159895757698957576Human1name
11617560CV340143single nucleotide variantNM_000875.5(IGF1R):c.*447C>TGrowth delay due to insulin-like growth factor I resistance [RCV000305596]uncertain significance159895788998957889Human1name
11621246CV341567single nucleotide variantNM_000875.5(IGF1R):c.*251A>GGrowth delay due to insulin-like growth factor I resistance [RCV000346005]uncertain significance159895769398957693Human1name
11657935CV341569single nucleotide variantNM_000875.5(IGF1R):c.*362T>CGrowth delay due to insulin-like growth factor I resistance [RCV000345214]uncertain significance159895780498957804Human1name
11620672CV341572single nucleotide variantNM_000875.5(IGF1R):c.*624G>AGrowth delay due to insulin-like growth factor I resistance [RCV000339478]uncertain significance159895806698958066Human1name
11625997CV341573single nucleotide variantNM_000875.5(IGF1R):c.*626T>CGrowth delay due to insulin-like growth factor I resistance [RCV000405242]likely benign159895806898958068Human1name
11651585CV341575single nucleotide variantNM_000875.5(IGF1R):c.*640C>TGrowth delay due to insulin-like growth factor I resistance [RCV000299707]uncertain significance159895808298958082Human1name
11616885CV341577single nucleotide variantNM_000875.5(IGF1R):c.*741C>GGrowth delay due to insulin-like growth factor I resistance [RCV000298700]uncertain significance159895818398958183Human1name
11624558CV341578single nucleotide variantNM_000875.5(IGF1R):c.*874C>TGrowth delay due to insulin-like growth factor I resistance [RCV000387221]|not provided [RCV004715922]benign|likely benign159895831698958316Human1name
11619765CV341584single nucleotide variantNM_000875.5(IGF1R):c.*940C>TGrowth delay due to insulin-like growth factor I resistance [RCV000329188]uncertain significance159895838298958382Human1name
15107078CV760248single nucleotide variantNM_000875.5(IGF1R):c.94+7A>GIGF1R-related disorder [RCV004543435]|not provided [RCV000915881]likely benign159864968298649682Human1name , alternate_id
28876227CV874362single nucleotide variantNM_000875.5(IGF1R):c.*231A>TGrowth delay due to insulin-like growth factor I resistance [RCV001116212]uncertain significance159895767398957673Human1name
28876229CV874363single nucleotide variantNM_000875.5(IGF1R):c.*257A>CGrowth delay due to insulin-like growth factor I resistance [RCV001116213]uncertain significance159895769998957699Human1name
28876232CV874364single nucleotide variantNM_000875.5(IGF1R):c.*336C>TGrowth delay due to insulin-like growth factor I resistance [RCV001116214]uncertain significance159895777898957778Human1name
28876235CV874365single nucleotide variantNM_000875.5(IGF1R):c.*352G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116215]likely benign159895779498957794Human1name
28880853CV874366single nucleotide variantNM_000875.5(IGF1R):c.*458G>AGrowth delay due to insulin-like growth factor I resistance [RCV001117653]likely benign159895790098957900Human1name
28880855CV874367single nucleotide variantNM_000875.5(IGF1R):c.*502T>CGrowth delay due to insulin-like growth factor I resistance [RCV001117654]uncertain significance159895794498957944Human1name
28880860CV874368single nucleotide variantNM_000875.5(IGF1R):c.*506C>TGrowth delay due to insulin-like growth factor I resistance [RCV001117655]uncertain significance159895794898957948Human1name
28880866CV874369single nucleotide variantNM_000875.5(IGF1R):c.*574C>TGrowth delay due to insulin-like growth factor I resistance [RCV001117656]uncertain significance159895801698958016Human1name
28880872CV874370single nucleotide variantNM_000875.5(IGF1R):c.*621G>AGrowth delay due to insulin-like growth factor I resistance [RCV001117657]uncertain significance159895806398958063Human1name
28886071CV874371single nucleotide variantNM_000875.5(IGF1R):c.*635G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119234]uncertain significance159895807798958077Human1name
28886075CV874372single nucleotide variantNM_000875.5(IGF1R):c.*687C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119235]likely benign159895812998958129Human1name
28892135CV874373single nucleotide variantNM_000875.5(IGF1R):c.*977C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121232]benign159895841998958419Human1name
156262491CV1960713single nucleotide variantNM_000875.5(IGF1R):c.94+15G>Anot provided [RCV002576892]likely benign159864969098649690Humanname
156125205CV1962697single nucleotide variantNM_000875.5(IGF1R):c.953+9C>Tnot provided [RCV002572017]likely benign159889164698891646Humanname
243049981CV2417288single nucleotide variantNM_000875.5(IGF1R):c.641-2A>Gnot provided [RCV003152160]pathogenic159889132398891323Humanname
405143752CV3126101single nucleotide variantNM_000875.5(IGF1R):c.95-18C>Tnot provided [RCV003817017]likely benign159870754498707544Humanname
402512891CV3178496single nucleotide variantNM_000875.5(IGF1R):c.953+8G>Anot provided [RCV003879113]likely benign159889164598891645Humanname
11661957CV323663single nucleotide variantNM_000875.5(IGF1R):c.*1042C>TGrowth delay due to insulin-like growth factor I resistance [RCV000381520]uncertain significance159895848498958484Human1name
11602324CV323666single nucleotide variantNM_000875.5(IGF1R):c.*1087A>GGrowth delay due to insulin-like growth factor I resistance [RCV000290062]|not provided [RCV004715000]benign|likely benign159895852998958529Human2name
11602324CV323666single nucleotide variantNM_000875.5(IGF1R):c.*1087A>GGrowth delay due to insulin-like growth factor I resistance [RCV000290062]|not provided [RCV004715000]benign|likely benign159895852998958530Human2name
11657445CV323670single nucleotide variantNM_000875.5(IGF1R):c.*1229G>AGrowth delay due to insulin-like growth factor I resistance [RCV000341330]uncertain significance159895867198958671Human1name
11657000CV323672single nucleotide variantNM_000875.5(IGF1R):c.*1262A>CGrowth delay due to insulin-like growth factor I resistance [RCV000337852]uncertain significance159895870498958704Human1name
11660911CV323678single nucleotide variantNM_000875.5(IGF1R):c.*1361T>AGrowth delay due to insulin-like growth factor I resistance [RCV000371316]uncertain significance159895880398958803Human1name
11612247CV323679single nucleotide variantNM_000875.5(IGF1R):c.*1425A>CGrowth delay due to insulin-like growth factor I resistance [RCV000405864]benign|likely benign159895886798958867Human1name
11653070CV323680single nucleotide variantNM_000875.5(IGF1R):c.*1513C>TGrowth delay due to insulin-like growth factor I resistance [RCV000308545]uncertain significance159895895598958955Human1name
11606178CV323682single nucleotide variantNM_000875.5(IGF1R):c.*1668C>AGrowth delay due to insulin-like growth factor I resistance [RCV000328347]likely benign|uncertain significance159895911098959110Human1name
11608745CV323684single nucleotide variantNM_000875.5(IGF1R):c.*1681A>GGrowth delay due to insulin-like growth factor I resistance [RCV000359332]uncertain significance159895912398959123Human1name
11599315CV323687single nucleotide variantNM_000875.5(IGF1R):c.*1724C>TGrowth delay due to insulin-like growth factor I resistance [RCV000264534]benign|likely benign159895916698959166Human1name
11658536CV323709single nucleotide variantNM_000875.5(IGF1R):c.*1904G>AGrowth delay due to insulin-like growth factor I resistance [RCV000349668]uncertain significance159895934698959346Human1name
11611173CV323712single nucleotide variantNM_000875.5(IGF1R):c.*1925C>TGrowth delay due to insulin-like growth factor I resistance [RCV000391195]uncertain significance159895936798959367Human1name
11650990CV323717single nucleotide variantNM_000875.5(IGF1R):c.*1931C>TGrowth delay due to insulin-like growth factor I resistance [RCV000295783]uncertain significance159895937398959373Human1name
11660310CV323718single nucleotide variantNM_000875.5(IGF1R):c.*2064T>AGrowth delay due to insulin-like growth factor I resistance [RCV000365695]uncertain significance159895950698959506Human1name
11664240CV323719single nucleotide variantNM_000875.5(IGF1R):c.*2224A>GGrowth delay due to insulin-like growth factor I resistance [RCV000403713]uncertain significance159895966698959666Human1name
11605717CV323720single nucleotide variantNM_000875.5(IGF1R):c.*2379T>CGrowth delay due to insulin-like growth factor I resistance [RCV000322894]uncertain significance159895982198959821Human1name
11602224CV323755single nucleotide variantNM_000875.5(IGF1R):c.*2718C>TGrowth delay due to insulin-like growth factor I resistance [RCV000289290]likely benign|uncertain significance159896016098960160Human1name
11612126CV323756single nucleotide variantNM_000875.5(IGF1R):c.*3074G>AGrowth delay due to insulin-like growth factor I resistance [RCV000404042]|not provided [RCV004715002]benign|likely benign159896051698960516Human1name
11606289CV323762single nucleotide variantNM_000875.5(IGF1R):c.*3445C>TGrowth delay due to insulin-like growth factor I resistance [RCV000329574]uncertain significance159896088798960887Human1name
11646509CV323764single nucleotide variantNM_000875.5(IGF1R):c.*4080C>TGrowth delay due to insulin-like growth factor I resistance [RCV000271047]uncertain significance159896152298961522Human1name
11606983CV323766single nucleotide variantNM_000875.5(IGF1R):c.*4438G>AGrowth delay due to insulin-like growth factor I resistance [RCV000338296]uncertain significance159896188098961880Human1name
11602769CV323774single nucleotide variantNM_000875.5(IGF1R):c.*4458C>GGrowth delay due to insulin-like growth factor I resistance [RCV000293877]|not provided [RCV004715924]benign159896190098961900Human1name
11612224CV323775single nucleotide variantNM_000875.5(IGF1R):c.*4645C>TGrowth delay due to insulin-like growth factor I resistance [RCV000405431]|not provided [RCV004715008]benign159896208798962087Human1name
11603767CV323786single nucleotide variantNM_000875.5(IGF1R):c.*4752G>TGrowth delay due to insulin-like growth factor I resistance [RCV000303040]|not provided [RCV004715925]benign159896219498962194Human2name
11603767CV323786single nucleotide variantNM_000875.5(IGF1R):c.*4752G>TGrowth delay due to insulin-like growth factor I resistance [RCV000303040]|not provided [RCV004715925]benign159896219498962195Human2name
11598929CV323790single nucleotide variantNM_000875.5(IGF1R):c.*4816C>TGrowth delay due to insulin-like growth factor I resistance [RCV000261568]uncertain significance159896225898962258Human1name
11607700CV323791single nucleotide variantNM_000875.5(IGF1R):c.*5227C>TGrowth delay due to insulin-like growth factor I resistance [RCV000346827]benign|uncertain significance159896266998962669Human1name
11608609CV323794single nucleotide variantNM_000875.5(IGF1R):c.*5571G>AGrowth delay due to insulin-like growth factor I resistance [RCV000357392]uncertain significance159896301398963013Human1name
11656229CV323798single nucleotide variantNM_000875.5(IGF1R):c.*5693T>GGrowth delay due to insulin-like growth factor I resistance [RCV000331651]uncertain significance159896313598963135Human1name
11651794CV323805single nucleotide variantNM_000875.5(IGF1R):c.*5791G>AGrowth delay due to insulin-like growth factor I resistance [RCV000300861]uncertain significance159896323398963233Human1name
11653911CV323806single nucleotide variantNM_000875.5(IGF1R):c.*6091C>TGrowth delay due to insulin-like growth factor I resistance [RCV000313801]uncertain significance159896353398963533Human1name
11609013CV323810single nucleotide variantNM_000875.5(IGF1R):c.*6092G>AGrowth delay due to insulin-like growth factor I resistance [RCV000362695]benign|likely benign159896353498963534Human1name
11599286CV323811single nucleotide variantNM_000875.5(IGF1R):c.*6186G>AGrowth delay due to insulin-like growth factor I resistance [RCV000264320]benign|likely benign159896362898963628Human1name
11605107CV323816single nucleotide variantNM_000875.5(IGF1R):c.*6307A>GGrowth delay due to insulin-like growth factor I resistance [RCV000315807]uncertain significance159896374998963749Human1name
11656986CV323819duplicationNM_000875.5(IGF1R):c.*6521dupGrowth delay due to insulin-like growth factor I resistance [RCV000338037]uncertain significance159896396298963963Human1name
11611856CV323820single nucleotide variantNM_000875.5(IGF1R):c.*6631G>CGrowth delay due to insulin-like growth factor I resistance [RCV000400302]uncertain significance159896407398964073Human1name
11658011CV323821single nucleotide variantNM_000875.5(IGF1R):c.*6700A>CGrowth delay due to insulin-like growth factor I resistance [RCV000345735]uncertain significance159896414298964142Human1name
11662964CV323829single nucleotide variantNM_000875.5(IGF1R):c.*6731G>AGrowth delay due to insulin-like growth factor I resistance [RCV000390851]uncertain significance159896417398964173Human1name
11654494CV323839deletionNM_000875.5(IGF1R):c.*6793delGrowth delay due to insulin-like growth factor I resistance [RCV000317852]uncertain significance159896422798964227Human1name
11661315CV323840single nucleotide variantNM_000875.5(IGF1R):c.*6875T>CGrowth delay due to insulin-like growth factor I resistance [RCV000374758]uncertain significance159896431798964317Human1name
11645104CV323842single nucleotide variantNM_000875.5(IGF1R):c.*6890A>TGrowth delay due to insulin-like growth factor I resistance [RCV000263813]uncertain significance159896433298964332Human1name
11610861CV323844single nucleotide variantNM_000875.5(IGF1R):c.*6901G>CGrowth delay due to insulin-like growth factor I resistance [RCV000387424]uncertain significance159896434398964343Human1name
11623458CV333342microsatelliteNM_000875.5(IGF1R):c.*63AG[3]Growth delay due to insulin-like growth factor I resistance [RCV000372866]|not provided [RCV003391145]benign|conflicting interpretations of pathogenicity|uncertain significance159895750498957505Humanname
11659988CV333374single nucleotide variantNM_000875.5(IGF1R):c.*1572G>AGrowth delay due to insulin-like growth factor I resistance [RCV000363195]uncertain significance159895901498959014Human1name
11621622CV333376single nucleotide variantNM_000875.5(IGF1R):c.*1945C>TGrowth delay due to insulin-like growth factor I resistance [RCV000350759]uncertain significance159895938798959387Human1name
11622226CV333380single nucleotide variantNM_000875.5(IGF1R):c.*2343C>TGrowth delay due to insulin-like growth factor I resistance [RCV000357975]uncertain significance159895978598959785Human1name
11612452CV333381deletionNM_000875.5(IGF1R):c.*2426delGrowth delay due to insulin-like growth factor I resistance [RCV000259776]conflicting interpretations of pathogenicity159895985598959855Human1name
11622112CV333390single nucleotide variantNM_000875.5(IGF1R):c.*3165T>CGrowth delay due to insulin-like growth factor I resistance [RCV000356366]|not provided [RCV004715004]benign159896060798960607Human1name
11653654CV333392single nucleotide variantNM_000875.5(IGF1R):c.*3199C>TGrowth delay due to insulin-like growth factor I resistance [RCV000312190]uncertain significance159896064198960641Human1name
11614563CV333393single nucleotide variantNM_000875.5(IGF1R):c.*3333G>AGrowth delay due to insulin-like growth factor I resistance [RCV000277842]|not provided [RCV004715923]benign|likely benign159896077598960775Human1name
11620107CV333399single nucleotide variantNM_000875.5(IGF1R):c.*3338G>AGrowth delay due to insulin-like growth factor I resistance [RCV000332861]|not provided [RCV004693256]uncertain significance159896078098960780Human1name
11613612CV333401single nucleotide variantNM_000875.5(IGF1R):c.*3440G>AGrowth delay due to insulin-like growth factor I resistance [RCV000269768]likely benign|uncertain significance159896088298960882Human1name
11617104CV333404single nucleotide variantNM_000875.5(IGF1R):c.*3616C>GGrowth delay due to insulin-like growth factor I resistance [RCV000301322]uncertain significance159896105898961058Human1name
11626181CV333408duplicationNM_000875.5(IGF1R):c.*3731dupGrowth delay due to insulin-like growth factor I resistance [RCV000407990]uncertain significance159896116998961170Human1name
11618517CV333412single nucleotide variantNM_000875.5(IGF1R):c.*3766C>TGrowth delay due to insulin-like growth factor I resistance [RCV000314630]|not provided [RCV001672518]benign159896120898961208Human4name
11617656CV333421single nucleotide variantNM_000875.5(IGF1R):c.*3999A>GGrowth delay due to insulin-like growth factor I resistance [RCV000306449]uncertain significance159896144198961441Human1name
11619105CV333423single nucleotide variantNM_000875.5(IGF1R):c.*4172C>TGrowth delay due to insulin-like growth factor I resistance [RCV000321509]|not provided [RCV004715006]benign|likely benign159896161498961614Human1name
11623717CV333428single nucleotide variantNM_000875.5(IGF1R):c.*4186A>GGrowth delay due to insulin-like growth factor I resistance [RCV000376185]uncertain significance159896162898961628Human1name
11623464CV333429single nucleotide variantNM_000875.5(IGF1R):c.*4391C>TGrowth delay due to insulin-like growth factor I resistance [RCV000372912]|not provided [RCV004715007]benign|likely benign159896183398961833Human4name
11621195CV333431single nucleotide variantNM_000875.5(IGF1R):c.*4521G>AGrowth delay due to insulin-like growth factor I resistance [RCV000345402]likely benign|uncertain significance159896196398961963Human1name
11617910CV333433single nucleotide variantNM_000875.5(IGF1R):c.*4599C>TGrowth delay due to insulin-like growth factor I resistance [RCV000308989]likely benign|uncertain significance159896204198962041Human1name
11622401CV333439single nucleotide variantNM_000875.5(IGF1R):c.*4761C>TGrowth delay due to insulin-like growth factor I resistance [RCV000360033]uncertain significance159896220398962203Human1name
11635470CV333445single nucleotide variantNM_000875.5(IGF1R):c.*4815G>AGrowth delay due to insulin-like growth factor I resistance [RCV000354301]benign|uncertain significance159896225798962257Human1name
11649838CV333447single nucleotide variantNM_000875.5(IGF1R):c.*5152T>GGrowth delay due to insulin-like growth factor I resistance [RCV000289487]uncertain significance159896259498962594Human1name
11625710CV333450single nucleotide variantNM_000875.5(IGF1R):c.*5309C>TGrowth delay due to insulin-like growth factor I resistance [RCV000402092]|not provided [RCV004715010]benign|likely benign159896275198962751Human1name
11615204CV333451single nucleotide variantNM_000875.5(IGF1R):c.*5428A>GGrowth delay due to insulin-like growth factor I resistance [RCV000283755]uncertain significance159896287098962870Human1name
11624982CV333463single nucleotide variantNM_000875.5(IGF1R):c.*5458A>GGrowth delay due to insulin-like growth factor I resistance [RCV000392888]benign|likely benign159896290098962900Human1name
11617036CV333465single nucleotide variantNM_000875.5(IGF1R):c.*5570C>TGrowth delay due to insulin-like growth factor I resistance [RCV000300214]benign|uncertain significance159896301298963012Human1name
11647101CV333467single nucleotide variantNM_000875.5(IGF1R):c.*5633A>GGrowth delay due to insulin-like growth factor I resistance [RCV000274327]uncertain significance159896307598963075Human1name
11660781CV333472single nucleotide variantNM_000875.5(IGF1R):c.*5712G>AGrowth delay due to insulin-like growth factor I resistance [RCV000370009]uncertain significance159896315498963154Human1name
11661411CV333475single nucleotide variantNM_000875.5(IGF1R):c.*5735T>CGrowth delay due to insulin-like growth factor I resistance [RCV000376094]uncertain significance159896317798963177Human1name
11620850CV333486single nucleotide variantNM_000875.5(IGF1R):c.*5742C>GGrowth delay due to insulin-like growth factor I resistance [RCV000341402]uncertain significance159896318498963184Human1name
11664551CV333495deletionNM_000875.5(IGF1R):c.*5790delGrowth delay due to insulin-like growth factor I resistance [RCV000406698]uncertain significance159896323298963232Human1name
11653101CV333502single nucleotide variantNM_000875.5(IGF1R):c.*6124G>AGrowth delay due to insulin-like growth factor I resistance [RCV000309048]uncertain significance159896356698963566Human1name
11623440CV333509single nucleotide variantNM_000875.5(IGF1R):c.*6308T>CGrowth delay due to insulin-like growth factor I resistance [RCV000372734]|not provided [RCV004703691]likely benign|uncertain significance159896375098963750Human1name
11614885CV333511single nucleotide variantNM_000875.5(IGF1R):c.*6493C>TGrowth delay due to insulin-like growth factor I resistance [RCV000280628]benign|uncertain significance159896393598963935Human1name
11624368CV333514single nucleotide variantNM_000875.5(IGF1R):c.*6568A>CGrowth delay due to insulin-like growth factor I resistance [RCV000385309]benign|uncertain significance159896401098964010Human1name
11616312CV333517single nucleotide variantNM_000875.5(IGF1R):c.*6580C>TGrowth delay due to insulin-like growth factor I resistance [RCV000293556]likely benign159896402298964022Human1name
11621623CV333523single nucleotide variantNM_000875.5(IGF1R):c.*6581G>AGrowth delay due to insulin-like growth factor I resistance [RCV000350762]uncertain significance159896402398964023Human1name
11618094CV333525single nucleotide variantNM_000875.5(IGF1R):c.*6746T>GGrowth delay due to insulin-like growth factor I resistance [RCV000310690]uncertain significance159896418898964188Human1name
11622276CV333528single nucleotide variantNM_000875.5(IGF1R):c.*6770A>TGrowth delay due to insulin-like growth factor I resistance [RCV000358586]likely benign|uncertain significance159896421298964212Human1name
11656518CV333529single nucleotide variantNM_000875.5(IGF1R):c.*6974A>GGrowth delay due to insulin-like growth factor I resistance [RCV000334067]uncertain significance159896441698964416Human1name
11615477CV340149single nucleotide variantNM_000875.5(IGF1R):c.*1228G>AGrowth delay due to insulin-like growth factor I resistance [RCV000286430]benign|uncertain significance159895867098958670Human1name
11626186CV340150deletionNM_000875.5(IGF1R):c.*1268delGrowth delay due to insulin-like growth factor I resistance [RCV000408049]benign159895870198958701Human1name
11618214CV340157single nucleotide variantNM_000875.5(IGF1R):c.*1360T>AGrowth delay due to insulin-like growth factor I resistance [RCV000311954]uncertain significance159895880298958802Human1name
11613991CV340161single nucleotide variantNM_000875.5(IGF1R):c.*1600A>GGrowth delay due to insulin-like growth factor I resistance [RCV000273214]uncertain significance159895904298959042Human1name
11623679CV340166single nucleotide variantNM_000875.5(IGF1R):c.*1856C>TGrowth delay due to insulin-like growth factor I resistance [RCV000375662]|not provided [RCV004715001]benign|likely benign159895929898959298Human1name
11614965CV340167single nucleotide variantNM_000875.5(IGF1R):c.*1897G>AGrowth delay due to insulin-like growth factor I resistance [RCV000281278]uncertain significance159895933998959339Human1name
11624838CV340168single nucleotide variantNM_000875.5(IGF1R):c.*1991G>AGrowth delay due to insulin-like growth factor I resistance [RCV000391118]uncertain significance159895943398959433Human1name
11620804CV340177duplicationNM_000875.5(IGF1R):c.*3020dupGrowth delay due to insulin-like growth factor I resistance [RCV000341397]likely benign159896046198960462Human1name
11612708CV340178single nucleotide variantNM_000875.5(IGF1R):c.*3197G>AGrowth delay due to insulin-like growth factor I resistance [RCV000261644]uncertain significance159896063998960639Human1name
11662108CV340184single nucleotide variantNM_000875.5(IGF1R):c.*3364T>CGrowth delay due to insulin-like growth factor I resistance [RCV000382738]uncertain significance159896080698960806Human1name
11615416CV340185single nucleotide variantNM_000875.5(IGF1R):c.*3470C>TGrowth delay due to insulin-like growth factor I resistance [RCV000285784]uncertain significance159896091298960912Human1name
11661824CV340186duplicationNM_000875.5(IGF1R):c.*3471dupGrowth delay due to insulin-like growth factor I resistance [RCV000380118]likely benign159896090598960906Human1name
11620387CV340188single nucleotide variantNM_000875.5(IGF1R):c.*3489G>AGrowth delay due to insulin-like growth factor I resistance [RCV000336137]uncertain significance159896093198960931Human1name
11620501CV340190single nucleotide variantNM_000875.5(IGF1R):c.*3714C>TGrowth delay due to insulin-like growth factor I resistance [RCV000337526]uncertain significance159896115698961156Human1name
11623176CV340195single nucleotide variantNM_000875.5(IGF1R):c.*3818A>CGrowth delay due to insulin-like growth factor I resistance [RCV000369367]uncertain significance159896126098961260Human1name
11613370CV340196single nucleotide variantNM_000875.5(IGF1R):c.*4231G>AGrowth delay due to insulin-like growth factor I resistance [RCV000267885]uncertain significance159896167398961673Human1name
11614626CV340200single nucleotide variantNM_000875.5(IGF1R):c.*4404G>TGrowth delay due to insulin-like growth factor I resistance [RCV000278368]uncertain significance159896184698961846Human1name
11623532CV340202single nucleotide variantNM_000875.5(IGF1R):c.*4439G>CGrowth delay due to insulin-like growth factor I resistance [RCV000374281]likely benign|uncertain significance159896188198961881Human1name
11621436CV340204single nucleotide variantNM_000875.5(IGF1R):c.*4466G>CGrowth delay due to insulin-like growth factor I resistance [RCV000348761]likely benign|uncertain significance159896190898961908Human1name
11616507CV340207single nucleotide variantNM_000875.5(IGF1R):c.*4513A>GGrowth delay due to insulin-like growth factor I resistance [RCV000295096]benign|uncertain significance159896195598961955Human1name
11622899CV340209single nucleotide variantNM_000875.5(IGF1R):c.*4641C>TGrowth delay due to insulin-like growth factor I resistance [RCV000365934]likely benign|uncertain significance159896208398962083Human1name
11613345CV340215single nucleotide variantNM_000875.5(IGF1R):c.*4792C>TGrowth delay due to insulin-like growth factor I resistance [RCV000267647]uncertain significance159896223498962234Human1name
11618624CV340216single nucleotide variantNM_000875.5(IGF1R):c.*4814C>TGrowth delay due to insulin-like growth factor I resistance [RCV000315862]|not provided [RCV004715009]benign|likely benign159896225698962256Human1name
11654616CV340218single nucleotide variantNM_000875.5(IGF1R):c.*4861C>TGrowth delay due to insulin-like growth factor I resistance [RCV000319129]uncertain significance159896230398962303Human1name
11616301CV340220single nucleotide variantNM_000875.5(IGF1R):c.*4980G>AGrowth delay due to insulin-like growth factor I resistance [RCV000293492]uncertain significance159896242298962422Human1name
11620218CV340224single nucleotide variantNM_000875.5(IGF1R):c.*5146G>AGrowth delay due to insulin-like growth factor I resistance [RCV000334088]benign|likely benign159896258898962588Human1name
11624078CV340225single nucleotide variantNM_000875.5(IGF1R):c.*5151T>CGrowth delay due to insulin-like growth factor I resistance [RCV000381636]|not provided [RCV004715926]benign|uncertain significance159896259398962593Human1name
11658982CV340226single nucleotide variantNM_000875.5(IGF1R):c.*5515C>TGrowth delay due to insulin-like growth factor I resistance [RCV000353521]uncertain significance159896295798962957Human1name
11624945CV340230single nucleotide variantNM_000875.5(IGF1R):c.*5565A>GGrowth delay due to insulin-like growth factor I resistance [RCV000392899]uncertain significance159896300798963007Human1name
11634897CV340239duplicationNM_000875.5(IGF1R):c.*5739dupGrowth delay due to insulin-like growth factor I resistance [RCV000290061]|not provided [RCV004693257]uncertain significance159896317298963173Human1name
11661795CV340244deletionNM_000875.5(IGF1R):c.*5771delGrowth delay due to insulin-like growth factor I resistance [RCV000379922]uncertain significance159896321398963213Human1name
11621430CV340246single nucleotide variantNM_000875.5(IGF1R):c.*5926T>CGrowth delay due to insulin-like growth factor I resistance [RCV000348684]uncertain significance159896336898963368Human1name
11664552CV340248single nucleotide variantNM_000875.5(IGF1R):c.*6028A>TGrowth delay due to insulin-like growth factor I resistance [RCV000406703]uncertain significance159896347098963470Human1name
11646369CV340249single nucleotide variantNM_000875.5(IGF1R):c.*6096G>AGrowth delay due to insulin-like growth factor I resistance [RCV000270348]uncertain significance159896353898963538Human1name
11622942CV340250single nucleotide variantNM_000875.5(IGF1R):c.*6166G>AGrowth delay due to insulin-like growth factor I resistance [RCV000366037]benign|likely benign159896360898963608Human1name
11654973CV340251single nucleotide variantNM_000875.5(IGF1R):c.*6232G>AGrowth delay due to insulin-like growth factor I resistance [RCV000321820]uncertain significance159896367498963674Human1name
11613401CV340252single nucleotide variantNM_000875.5(IGF1R):c.*6271C>TGrowth delay due to insulin-like growth factor I resistance [RCV000267853]|not provided [RCV004715927]benign159896371398963713Human1name
11652834CV340253duplicationNM_000875.5(IGF1R):c.*6697dupGrowth delay due to insulin-like growth factor I resistance [RCV000307198]uncertain significance159896413198964132Human1name
11652469CV340254single nucleotide variantNM_000875.5(IGF1R):c.*6780G>TGrowth delay due to insulin-like growth factor I resistance [RCV000305005]uncertain significance159896422298964222Human1name
11616562CV340255single nucleotide variantNM_000875.5(IGF1R):c.*6969G>AGrowth delay due to insulin-like growth factor I resistance [RCV000295525]uncertain significance159896441198964411Human1name
11619519CV341556single nucleotide variantNM_000875.5(IGF1R):c.94+14C>TGrowth delay due to insulin-like growth factor I resistance [RCV000326609]|not provided [RCV002056473]benign|uncertain significance159864968998649689Human1name
11620709CV341586single nucleotide variantNM_000875.5(IGF1R):c.*1150G>AGrowth delay due to insulin-like growth factor I resistance [RCV000340306]uncertain significance159895859298958592Human1name
11618633CV341588single nucleotide variantNM_000875.5(IGF1R):c.*1765T>AGrowth delay due to insulin-like growth factor I resistance [RCV000316399]likely benign|uncertain significance159895920798959207Human1name
11617636CV341591single nucleotide variantNM_000875.5(IGF1R):c.*1999G>AGrowth delay due to insulin-like growth factor I resistance [RCV000306245]uncertain significance159895944198959441Human1name
11617328CV341594single nucleotide variantNM_000875.5(IGF1R):c.*2296G>CGrowth delay due to insulin-like growth factor I resistance [RCV000303160]uncertain significance159895973898959738Human1name
11645910CV341595single nucleotide variantNM_000875.5(IGF1R):c.*2344G>AGrowth delay due to insulin-like growth factor I resistance [RCV000267813]uncertain significance159895978698959786Human1name
11621092CV341599single nucleotide variantNM_000875.5(IGF1R):c.*2790C>TGrowth delay due to insulin-like growth factor I resistance [RCV000344329]likely benign|uncertain significance159896023298960232Human1name
11663150CV341602single nucleotide variantNM_000875.5(IGF1R):c.*2952C>GGrowth delay due to insulin-like growth factor I resistance [RCV000392868]uncertain significance159896039498960394Human1name
11617542CV341604single nucleotide variantNM_000875.5(IGF1R):c.*2998A>GGrowth delay due to insulin-like growth factor I resistance [RCV000305354]uncertain significance159896044098960440Human1name
11616710CV341605single nucleotide variantNM_000875.5(IGF1R):c.*3129G>TGrowth delay due to insulin-like growth factor I resistance [RCV000296881]|not provided [RCV004715003]benign159896057198960571Human1name
11660497CV341612single nucleotide variantNM_000875.5(IGF1R):c.*3327G>AGrowth delay due to insulin-like growth factor I resistance [RCV000367785]uncertain significance159896076998960769Human1name
11624267CV341614single nucleotide variantNM_000875.5(IGF1R):c.*3457C>TGrowth delay due to insulin-like growth factor I resistance [RCV000384024]uncertain significance159896089998960899Human1name
11615383CV341615single nucleotide variantNM_000875.5(IGF1R):c.*3458G>AGrowth delay due to insulin-like growth factor I resistance [RCV000285027]|not provided [RCV004715005]benign159896090098960900Human1name
11657237CV341621single nucleotide variantNM_000875.5(IGF1R):c.*3463G>AGrowth delay due to insulin-like growth factor I resistance [RCV000339559]uncertain significance159896090598960905Human1name
11626216CV341624single nucleotide variantNM_000875.5(IGF1R):c.*3584C>TGrowth delay due to insulin-like growth factor I resistance [RCV000407992]uncertain significance159896102698961026Human1name
11622907CV341626single nucleotide variantNM_000875.5(IGF1R):c.*4000C>TGrowth delay due to insulin-like growth factor I resistance [RCV000365615]|not provided [RCV001594950]benign159896144298961442Human3name
11622907CV341626single nucleotide variantNM_000875.5(IGF1R):c.*4000C>TGrowth delay due to insulin-like growth factor I resistance [RCV000365615]|not provided [RCV001594950]benign159896144298961443Human3name
11619212CV341627single nucleotide variantNM_000875.5(IGF1R):c.*4351A>GGrowth delay due to insulin-like growth factor I resistance [RCV000322962]uncertain significance159896179398961793Human1name
11662989CV341628single nucleotide variantNM_000875.5(IGF1R):c.*4494G>AGrowth delay due to insulin-like growth factor I resistance [RCV000390993]uncertain significance159896193698961936Human1name
11624789CV341635single nucleotide variantNM_000875.5(IGF1R):c.*4529T>CGrowth delay due to insulin-like growth factor I resistance [RCV000390975]likely benign|uncertain significance159896197198961971Human1name
11662386CV341636single nucleotide variantNM_000875.5(IGF1R):c.*4889T>CGrowth delay due to insulin-like growth factor I resistance [RCV000385385]uncertain significance159896233198962331Human1name
11620825CV341638single nucleotide variantNM_000875.5(IGF1R):c.*5436C>TGrowth delay due to insulin-like growth factor I resistance [RCV000341223]|not provided [RCV004715011]benign|likely benign159896287898962878Human1name
11617572CV341639single nucleotide variantNM_000875.5(IGF1R):c.*5488A>GGrowth delay due to insulin-like growth factor I resistance [RCV000305657]uncertain significance159896293098962930Human1name
11619407CV341641single nucleotide variantNM_000875.5(IGF1R):c.*5718A>TGrowth delay due to insulin-like growth factor I resistance [RCV000325068]uncertain significance159896316098963160Human1name
11615277CV341643single nucleotide variantNM_000875.5(IGF1R):c.*5739T>CGrowth delay due to insulin-like growth factor I resistance [RCV000284099]likely benign|uncertain significance159896318198963181Human1name
11620354CV341644deletionNM_000875.5(IGF1R):c.*5789delGrowth delay due to insulin-like growth factor I resistance [RCV000335738]uncertain significance159896321498963214Human1name
11645614CV341649single nucleotide variantNM_000875.5(IGF1R):c.*6771T>AGrowth delay due to insulin-like growth factor I resistance [RCV000266220]uncertain significance159896421398964213Human1name
11644513CV341651duplicationNM_000875.5(IGF1R):c.*6793dupGrowth delay due to insulin-like growth factor I resistance [RCV000260360]|not provided [RCV003391146]likely benign|uncertain significance159896422698964227Human1name
11656075CV341653single nucleotide variantNM_000875.5(IGF1R):c.*6897A>CGrowth delay due to insulin-like growth factor I resistance [RCV000330567]uncertain significance159896433998964339Human1name
597892640CV3823438single nucleotide variantNM_000875.5(IGF1R):c.953+3C>Tnot provided [RCV005167534]uncertain significance159889164098891640Humanname
28892138CV874374single nucleotide variantNM_000875.5(IGF1R):c.*1015C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121233]uncertain significance159895845798958457Human1name
28892143CV874375single nucleotide variantNM_000875.5(IGF1R):c.*1064A>GGrowth delay due to insulin-like growth factor I resistance [RCV001121234]uncertain significance159895850698958506Human1name
28876564CV874376single nucleotide variantNM_000875.5(IGF1R):c.*1152G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116320]benign159895859498958594Human1name
28876569CV874377single nucleotide variantNM_000875.5(IGF1R):c.*1186G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116321]uncertain significance159895862898958628Human1name
28876573CV874378single nucleotide variantNM_000875.5(IGF1R):c.*1287C>GGrowth delay due to insulin-like growth factor I resistance [RCV001116322]uncertain significance159895872998958729Human1name
28881220CV874379single nucleotide variantNM_000875.5(IGF1R):c.*1383C>TGrowth delay due to insulin-like growth factor I resistance [RCV001117762]uncertain significance159895882598958825Human1name
28881225CV874380single nucleotide variantNM_000875.5(IGF1R):c.*1406G>AGrowth delay due to insulin-like growth factor I resistance [RCV001117763]uncertain significance159895884898958848Human1name
28881230CV874381single nucleotide variantNM_000875.5(IGF1R):c.*1512C>AGrowth delay due to insulin-like growth factor I resistance [RCV001117764]uncertain significance159895895498958954Human1name
28881234CV874382single nucleotide variantNM_000875.5(IGF1R):c.*1543A>GGrowth delay due to insulin-like growth factor I resistance [RCV001117765]likely benign159895898598958985Human1name
28886355CV874383single nucleotide variantNM_000875.5(IGF1R):c.*1548G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119319]uncertain significance159895899098958990Human1name
28886360CV874384single nucleotide variantNM_000875.5(IGF1R):c.*1555C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119320]uncertain significance159895899798958997Human1name
28886363CV874385single nucleotide variantNM_000875.5(IGF1R):c.*1578C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119321]uncertain significance159895902098959020Human1name
28886368CV874386single nucleotide variantNM_000875.5(IGF1R):c.*1617T>CGrowth delay due to insulin-like growth factor I resistance [RCV001119322]uncertain significance159895905998959059Human1name
28886373CV874387single nucleotide variantNM_000875.5(IGF1R):c.*1671G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119323]uncertain significance159895911398959113Human1name
28892420CV874388single nucleotide variantNM_000875.5(IGF1R):c.*1763A>TGrowth delay due to insulin-like growth factor I resistance [RCV001121339]uncertain significance159895920598959205Human1name
28892425CV874389single nucleotide variantNM_000875.5(IGF1R):c.*1767T>GGrowth delay due to insulin-like growth factor I resistance [RCV001121340]uncertain significance159895920998959209Human1name
28892427CV874390single nucleotide variantNM_000875.5(IGF1R):c.*1799C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121341]uncertain significance159895924198959241Human1name
28892430CV874391single nucleotide variantNM_000875.5(IGF1R):c.*1823C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121342]uncertain significance159895926598959265Human1name
28876888CV874392single nucleotide variantNM_000875.5(IGF1R):c.*1885G>CGrowth delay due to insulin-like growth factor I resistance [RCV001116421]|not provided [RCV003393853]benign|uncertain significance159895932798959327Human1name
28876894CV874393single nucleotide variantNM_000875.5(IGF1R):c.*1932C>TGrowth delay due to insulin-like growth factor I resistance [RCV001116422]uncertain significance159895937498959374Human1name
28881550CV874394single nucleotide variantNM_000875.5(IGF1R):c.*2087G>AGrowth delay due to insulin-like growth factor I resistance [RCV001117869]uncertain significance159895952998959529Human1name
28881552CV874395single nucleotide variantNM_000875.5(IGF1R):c.*2128C>TGrowth delay due to insulin-like growth factor I resistance [RCV001117870]uncertain significance159895957098959570Human1name
28881556CV874396single nucleotide variantNM_000875.5(IGF1R):c.*2212G>AGrowth delay due to insulin-like growth factor I resistance [RCV001117871]|not provided [RCV004715396]benign159895965498959654Human1name
28886736CV874397single nucleotide variantNM_000875.5(IGF1R):c.*2414A>TGrowth delay due to insulin-like growth factor I resistance [RCV001119424]uncertain significance159895985698959856Human1name
28886743CV874398single nucleotide variantNM_000875.5(IGF1R):c.*2426A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119425]uncertain significance159895986898959868Human1name
28886887CV874399single nucleotide variantNM_000875.5(IGF1R):c.*2571A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119426]uncertain significance159896001398960013Human1name
28886884CV874400single nucleotide variantNM_000875.5(IGF1R):c.*2595G>TGrowth delay due to insulin-like growth factor I resistance [RCV001119427]uncertain significance159896003798960037Human1name
28886880CV874401single nucleotide variantNM_000875.5(IGF1R):c.*2596T>GGrowth delay due to insulin-like growth factor I resistance [RCV001119428]uncertain significance159896003898960038Human1name
28886875CV874402single nucleotide variantNM_000875.5(IGF1R):c.*2639A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119429]uncertain significance159896008198960081Human1name
28892644CV874403single nucleotide variantNM_000875.5(IGF1R):c.*2685T>GGrowth delay due to insulin-like growth factor I resistance [RCV001121416]uncertain significance159896012798960127Human1name
28892645CV874404single nucleotide variantNM_000875.5(IGF1R):c.*2808T>GGrowth delay due to insulin-like growth factor I resistance [RCV001121417]uncertain significance159896025098960250Human1name
28892651CV874405single nucleotide variantNM_000875.5(IGF1R):c.*2812A>TGrowth delay due to insulin-like growth factor I resistance [RCV001121418]uncertain significance159896025498960254Human1name
28892655CV874406single nucleotide variantNM_000875.5(IGF1R):c.*2880C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121419]uncertain significance159896032298960322Human1name
28877262CV874407single nucleotide variantNM_000875.5(IGF1R):c.*3041A>GGrowth delay due to insulin-like growth factor I resistance [RCV001116522]uncertain significance159896048398960483Human1name
28877267CV874408single nucleotide variantNM_000875.5(IGF1R):c.*3072G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116523]likely benign159896051498960514Human1name
28877270CV874409single nucleotide variantNM_000875.5(IGF1R):c.*3113A>CGrowth delay due to insulin-like growth factor I resistance [RCV001116524]uncertain significance159896055598960555Human1name
28877274CV874410single nucleotide variantNM_000875.5(IGF1R):c.*3192C>TGrowth delay due to insulin-like growth factor I resistance [RCV001116525]likely benign159896063498960634Human1name
28881917CV874411single nucleotide variantNM_000875.5(IGF1R):c.*3200C>TGrowth delay due to insulin-like growth factor I resistance [RCV001117974]uncertain significance159896064298960642Human1name
28881922CV874412single nucleotide variantNM_000875.5(IGF1R):c.*3250G>AGrowth delay due to insulin-like growth factor I resistance [RCV001117975]likely benign159896069298960692Human1name
28881924CV874413single nucleotide variantNM_000875.5(IGF1R):c.*3252G>AGrowth delay due to insulin-like growth factor I resistance [RCV001117976]uncertain significance159896069498960694Human1name
28881929CV874414single nucleotide variantNM_000875.5(IGF1R):c.*3299C>AGrowth delay due to insulin-like growth factor I resistance [RCV001117977]uncertain significance159896074198960741Human1name
28881935CV874415single nucleotide variantNM_000875.5(IGF1R):c.*3302A>GGrowth delay due to insulin-like growth factor I resistance [RCV001117978]uncertain significance159896074498960744Human1name
28887053CV874416single nucleotide variantNM_000875.5(IGF1R):c.*3380C>GGrowth delay due to insulin-like growth factor I resistance [RCV001119515]uncertain significance159896082298960822Human1name
28887057CV874417single nucleotide variantNM_000875.5(IGF1R):c.*3420G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119516]uncertain significance159896086298960862Human1name
28892927CV874418single nucleotide variantNM_000875.5(IGF1R):c.*3471C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121515]likely benign159896091398960913Human1name
28892930CV874419single nucleotide variantNM_000875.5(IGF1R):c.*3526G>AGrowth delay due to insulin-like growth factor I resistance [RCV001121516]uncertain significance159896096898960968Human1name
28892933CV874420single nucleotide variantNM_000875.5(IGF1R):c.*3563T>CGrowth delay due to insulin-like growth factor I resistance [RCV001121517]uncertain significance159896100598961005Human1name
28877601CV874421single nucleotide variantNM_000875.5(IGF1R):c.*3620A>GGrowth delay due to insulin-like growth factor I resistance [RCV001116628]uncertain significance159896106298961062Human1name
28877604CV874422single nucleotide variantNM_000875.5(IGF1R):c.*3624C>AGrowth delay due to insulin-like growth factor I resistance [RCV001116629]uncertain significance159896106698961066Human1name
28877606CV874423single nucleotide variantNM_000875.5(IGF1R):c.*3641G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116630]uncertain significance159896108398961083Human1name
28877610CV874424single nucleotide variantNM_000875.5(IGF1R):c.*3653C>AGrowth delay due to insulin-like growth factor I resistance [RCV001116631]likely benign159896109598961095Human1name
28877614CV874425single nucleotide variantNM_000875.5(IGF1R):c.*3664G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116632]uncertain significance159896110698961106Human1name
28877616CV874426single nucleotide variantNM_000875.5(IGF1R):c.*3688G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116633]uncertain significance159896113098961130Human1name
28882253CV874427single nucleotide variantNM_000875.5(IGF1R):c.*3793C>GGrowth delay due to insulin-like growth factor I resistance [RCV001118074]uncertain significance159896123598961235Human1name
28882258CV874428single nucleotide variantNM_000875.5(IGF1R):c.*3855G>TGrowth delay due to insulin-like growth factor I resistance [RCV001118075]uncertain significance159896129798961297Human1name
28882263CV874429single nucleotide variantNM_000875.5(IGF1R):c.*3980C>TGrowth delay due to insulin-like growth factor I resistance [RCV001118076]uncertain significance159896142298961422Human1name
28887349CV874430single nucleotide variantNM_000875.5(IGF1R):c.*4149C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119616]uncertain significance159896159198961591Human1name
28887354CV874431single nucleotide variantNM_000875.5(IGF1R):c.*4329G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119617]benign159896177198961771Human1name
28887356CV874432single nucleotide variantNM_000875.5(IGF1R):c.*4349A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119618]uncertain significance159896179198961791Human1name
28893208CV874433single nucleotide variantNM_000875.5(IGF1R):c.*4392G>AGrowth delay due to insulin-like growth factor I resistance [RCV001121609]uncertain significance159896183498961834Human1name
28893213CV874434single nucleotide variantNM_000875.5(IGF1R):c.*4403C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121610]likely benign159896184598961845Human1name
28893216CV874435single nucleotide variantNM_000875.5(IGF1R):c.*4406C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121611]uncertain significance159896184898961848Human1name
28893221CV874436single nucleotide variantNM_000875.5(IGF1R):c.*4437C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121612]uncertain significance159896187998961879Human1name
28877930CV874437single nucleotide variantNM_000875.5(IGF1R):c.*4445C>TGrowth delay due to insulin-like growth factor I resistance [RCV001116735]uncertain significance159896188798961887Human1name
28877936CV874438single nucleotide variantNM_000875.5(IGF1R):c.*4512G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116736]benign159896195498961954Human1name
28882594CV874439single nucleotide variantNM_000875.5(IGF1R):c.*4552T>AGrowth delay due to insulin-like growth factor I resistance [RCV001118182]uncertain significance159896199498961994Human1name
28882597CV874440single nucleotide variantNM_000875.5(IGF1R):c.*4691T>CGrowth delay due to insulin-like growth factor I resistance [RCV001118183]uncertain significance159896213398962133Human1name
28882602CV874441single nucleotide variantNM_000875.5(IGF1R):c.*4762G>AGrowth delay due to insulin-like growth factor I resistance [RCV001118184]likely benign159896220498962204Human1name
28887784CV874442single nucleotide variantNM_000875.5(IGF1R):c.*4765G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119734]uncertain significance159896220798962207Human1name
28887787CV874443single nucleotide variantNM_000875.5(IGF1R):c.*4817C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119735]uncertain significance159896225998962259Human1name
28887793CV874444single nucleotide variantNM_000875.5(IGF1R):c.*4835A>TGrowth delay due to insulin-like growth factor I resistance [RCV001119736]uncertain significance159896227798962277Human1name
28887797CV874445single nucleotide variantNM_000875.5(IGF1R):c.*4857A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119737]uncertain significance159896229998962299Human1name
28893471CV874446single nucleotide variantNM_000875.5(IGF1R):c.*4920C>AGrowth delay due to insulin-like growth factor I resistance [RCV001121710]uncertain significance159896236298962362Human1name
28893473CV874447single nucleotide variantNM_000875.5(IGF1R):c.*5002T>CGrowth delay due to insulin-like growth factor I resistance [RCV001121711]likely benign159896244498962444Human1name
28893476CV874448single nucleotide variantNM_000875.5(IGF1R):c.*5092C>GGrowth delay due to insulin-like growth factor I resistance [RCV001121712]uncertain significance159896253498962534Human1name
28893479CV874449single nucleotide variantNM_000875.5(IGF1R):c.*5144G>AGrowth delay due to insulin-like growth factor I resistance [RCV001121713]uncertain significance159896258698962586Human1name
28878268CV874450single nucleotide variantNM_000875.5(IGF1R):c.*5157A>GGrowth delay due to insulin-like growth factor I resistance [RCV001116847]|not provided [RCV004715393]benign159896259998962599Human1name
28878271CV874451single nucleotide variantNM_000875.5(IGF1R):c.*5166C>TGrowth delay due to insulin-like growth factor I resistance [RCV001116848]likely benign159896260898962608Human1name
28878273CV874452single nucleotide variantNM_000875.5(IGF1R):c.*5187G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116849]uncertain significance159896262998962629Human1name
28878278CV874453single nucleotide variantNM_000875.5(IGF1R):c.*5326C>TGrowth delay due to insulin-like growth factor I resistance [RCV001116850]likely benign159896276898962768Human1name
28882979CV874454single nucleotide variantNM_000875.5(IGF1R):c.*5404G>AGrowth delay due to insulin-like growth factor I resistance [RCV001118299]uncertain significance159896284698962846Human1name
28882983CV874455single nucleotide variantNM_000875.5(IGF1R):c.*5468C>TGrowth delay due to insulin-like growth factor I resistance [RCV001118300]uncertain significance159896291098962910Human1name
28882986CV874456single nucleotide variantNM_000875.5(IGF1R):c.*5481C>TGrowth delay due to insulin-like growth factor I resistance [RCV001118301]uncertain significance159896292398962923Human1name
28888110CV874457single nucleotide variantNM_000875.5(IGF1R):c.*5516G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119829]uncertain significance159896295898962958Human1name
28888116CV874458single nucleotide variantNM_000875.5(IGF1R):c.*5518G>CGrowth delay due to insulin-like growth factor I resistance [RCV001119830]uncertain significance159896296098962960Human1name
28888120CV874459single nucleotide variantNM_000875.5(IGF1R):c.*5527C>TGrowth delay due to insulin-like growth factor I resistance [RCV001119831]uncertain significance159896296998962969Human1name
28888125CV874460single nucleotide variantNM_000875.5(IGF1R):c.*5528G>AGrowth delay due to insulin-like growth factor I resistance [RCV001119832]benign159896297098962970Human1name
28893719CV874461single nucleotide variantNM_000875.5(IGF1R):c.*5639A>GGrowth delay due to insulin-like growth factor I resistance [RCV001121815]uncertain significance159896308198963081Human1name
28893722CV874462single nucleotide variantNM_000875.5(IGF1R):c.*5708T>CGrowth delay due to insulin-like growth factor I resistance [RCV001121816]uncertain significance159896315098963150Human1name
28873952CV874463single nucleotide variantNM_000875.5(IGF1R):c.*5749T>CGrowth delay due to insulin-like growth factor I resistance [RCV001115243]uncertain significance159896319198963191Human1name
28873956CV874464single nucleotide variantNM_000875.5(IGF1R):c.*5762T>GGrowth delay due to insulin-like growth factor I resistance [RCV001115244]uncertain significance159896320498963204Human1name
28873960CV874465single nucleotide variantNM_000875.5(IGF1R):c.*5865T>GGrowth delay due to insulin-like growth factor I resistance [RCV001115245]uncertain significance159896330798963307Human1name
28873964CV874466single nucleotide variantNM_000875.5(IGF1R):c.*5877A>GGrowth delay due to insulin-like growth factor I resistance [RCV001115246]uncertain significance159896331998963319Human1name
28873967CV874467single nucleotide variantNM_000875.5(IGF1R):c.*5909G>AGrowth delay due to insulin-like growth factor I resistance [RCV001115247]|not provided [RCV004706014]likely benign159896335198963351Human1name
28883278CV874468single nucleotide variantNM_000875.5(IGF1R):c.*6069G>AGrowth delay due to insulin-like growth factor I resistance [RCV001118398]|not provided [RCV004715398]benign159896351198963511Human1name
28883280CV874469single nucleotide variantNM_000875.5(IGF1R):c.*6076A>CGrowth delay due to insulin-like growth factor I resistance [RCV001118399]uncertain significance159896351898963518Human1name
28883282CV874470single nucleotide variantNM_000875.5(IGF1R):c.*6095C>GGrowth delay due to insulin-like growth factor I resistance [RCV001118400]uncertain significance159896353798963537Human1name
28883288CV874471single nucleotide variantNM_000875.5(IGF1R):c.*6123C>TGrowth delay due to insulin-like growth factor I resistance [RCV001118401]uncertain significance159896356598963565Human1name
28888429CV874472single nucleotide variantNM_000875.5(IGF1R):c.*6144A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119934]uncertain significance159896358698963586Human1name
28888436CV874473single nucleotide variantNM_000875.5(IGF1R):c.*6175A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119935]uncertain significance159896361798963617Human1name
28888442CV874474single nucleotide variantNM_000875.5(IGF1R):c.*6306T>AGrowth delay due to insulin-like growth factor I resistance [RCV001119936]uncertain significance159896374898963748Human1name
28893981CV874475single nucleotide variantNM_000875.5(IGF1R):c.*6329G>AGrowth delay due to insulin-like growth factor I resistance [RCV001121914]likely benign159896377198963771Human1name
28893984CV874476single nucleotide variantNM_000875.5(IGF1R):c.*6345A>GGrowth delay due to insulin-like growth factor I resistance [RCV001121915]uncertain significance159896378798963787Human1name
28893987CV874477single nucleotide variantNM_000875.5(IGF1R):c.*6499A>GGrowth delay due to insulin-like growth factor I resistance [RCV001121916]uncertain significance159896394198963941Human1name
28893991CV874478single nucleotide variantNM_000875.5(IGF1R):c.*6540C>AGrowth delay due to insulin-like growth factor I resistance [RCV001121917]uncertain significance159896398298963982Human1name
28893993CV874479single nucleotide variantNM_000875.5(IGF1R):c.*6578A>GGrowth delay due to insulin-like growth factor I resistance [RCV001121918]uncertain significance159896402098964020Human1name
28874180CV874480single nucleotide variantNM_000875.5(IGF1R):c.*6638G>TGrowth delay due to insulin-like growth factor I resistance [RCV001115338]uncertain significance159896408098964080Human1name
28883591CV874481single nucleotide variantNM_000875.5(IGF1R):c.*6933C>TGrowth delay due to insulin-like growth factor I resistance [RCV001118491]uncertain significance159896437598964375Human1name
28883595CV874482single nucleotide variantNM_000875.5(IGF1R):c.*6942C>TGrowth delay due to insulin-like growth factor I resistance [RCV001118492]likely benign159896438498964384Human1name
28888713CV874483single nucleotide variantNM_000875.5(IGF1R):c.*7011A>CGrowth delay due to insulin-like growth factor I resistance [RCV001120013]uncertain significance159896445398964453Human1name
126725442CV1018018single nucleotide variantNM_000875.5(IGF1R):c.3722+5G>AGrowth delay due to insulin-like growth factor I resistance [RCV001331400]|not provided [RCV002469375]uncertain significance159894871398948713Human1name
151840861CV1464180single nucleotide variantNM_000875.5(IGF1R):c.2486-3C>Anot provided [RCV001936095]uncertain significance159892387398923873Humanname
152093717CV1561226single nucleotide variantNM_000875.5(IGF1R):c.640+20C>Tnot provided [RCV002094546]benign159870812798708127Humanname
155267928CV1701459duplicationNM_000875.5(IGF1R):c.3457+1dupGrowth delay due to insulin-like growth factor I resistance [RCV002283685]likely pathogenic159893935998939360Human1name
155803078CV1857928single nucleotide variantNM_000875.5(IGF1R):c.1103-6A>Gnot provided [RCV002461778]uncertain significance159889947198899471Humanname
156311415CV1899940single nucleotide variantNM_000875.5(IGF1R):c.1997-7C>Tnot provided [RCV003088471]|not specified [RCV004526228]likely benign159891666598916665Humanname
156376853CV1956702single nucleotide variantNM_000875.5(IGF1R):c.954-14T>Gnot provided [RCV002582874]likely benign159889674398896743Humanname
156382097CV1960935single nucleotide variantNM_000875.5(IGF1R):c.3722+4C>Tnot provided [RCV002583248]uncertain significance159894871298948712Humanname
156410066CV1962095single nucleotide variantNM_000875.5(IGF1R):c.953+18G>Anot provided [RCV002587035]likely benign159889165598891655Humanname
156233032CV2039928single nucleotide variantNM_000875.5(IGF1R):c.3187-3C>Tnot provided [RCV002805387]uncertain significance159893531398935313Humanname
155942658CV2072288single nucleotide variantNM_000875.5(IGF1R):c.953+14A>Tnot provided [RCV002861881]likely benign159889165198891651Humanname
156122209CV2078185single nucleotide variantNM_000875.5(IGF1R):c.2622+9G>Tnot provided [RCV002889607]likely benign159892402198924021Humanname
156030196CV2093317single nucleotide variantNM_000875.5(IGF1R):c.3723-6C>Tnot provided [RCV002885368]uncertain significance159895705598957055Humanname
11638073CV265766single nucleotide variantNM_000875.5(IGF1R):c.1102+6T>Cnot provided [RCV000295992]uncertain significance159889691198896911Humanname
11633377CV266464single nucleotide variantNM_000875.5(IGF1R):c.3187-2A>Tnot provided [RCV000333916]likely pathogenic159893531498935314Humanname
401904527CV2814515single nucleotide variantNM_000875.5(IGF1R):c.2201+8G>Anot provided [RCV003395055]uncertain significance159891688498916884Humanname
405037468CV2932838single nucleotide variantNM_000875.5(IGF1R):c.3187-2A>Gnot provided [RCV003578774]likely pathogenic159893531498935314Humanname
405126382CV2939516single nucleotide variantNM_000875.5(IGF1R):c.2485+3A>Gnot provided [RCV003671995]uncertain significance159892243498922434Humanname
402511168CV2948293single nucleotide variantNM_000875.5(IGF1R):c.1996+8T>Cnot provided [RCV003662576]likely benign159891613998916139Humanname
405248108CV2984476single nucleotide variantNM_000875.5(IGF1R):c.1248-3T>Cnot provided [RCV003721012]uncertain significance159890868298908682Humanname
405235279CV3040844single nucleotide variantNM_000875.5(IGF1R):c.3458-3C>Tnot provided [RCV003712237]uncertain significance159894292098942920Humanname
405210640CV3059018single nucleotide variantNM_000875.5(IGF1R):c.1829-4C>Tnot provided [RCV003731955]likely benign|uncertain significance159891596098915960Humanname
405154273CV3068752single nucleotide variantNM_000875.5(IGF1R):c.953+10G>Anot provided [RCV003726635]likely benign159889164798891647Humanname
405191753CV3070006single nucleotide variantNM_000875.5(IGF1R):c.2622+8T>Gnot provided [RCV003729785]likely benign159892402098924020Humanname
405140033CV3125784single nucleotide variantNM_000875.5(IGF1R):c.640+12G>Tnot provided [RCV003816699]likely benign159870811998708119Humanname
405236216CV3168993deletionNM_000875.5(IGF1R):c.954-12delnot provided [RCV003866272]likely benign159889674598896745Humanname
405654420CV3228232single nucleotide variantNM_000875.5(IGF1R):c.1829-6C>Tnot specified [RCV003994967]uncertain significance159891595898915958Humanname
11615532CV333329single nucleotide variantNM_000875.5(IGF1R):c.641-14C>TGrowth delay due to insulin-like growth factor I resistance [RCV000286560]|not provided [RCV002056474]likely benign|uncertain significance159889131198891311Human1name
11623265CV340118single nucleotide variantNM_000875.5(IGF1R):c.1463-5C>AGrowth delay due to insulin-like growth factor I resistance [RCV000370865]|IGF1R-related disorder [RCV004537793]|not provided [RCV000514198]benign|likely benign159891131098911310Human1name , alternate_id
408377748CV3503118single nucleotide variantNM_000875.5(IGF1R):c.1589+1G>Anot provided [RCV004727689]uncertain significance159891144298911442Humanname
596925875CV3530610single nucleotide variantNM_000875.5(IGF1R):c.3457+1G>Anot provided [RCV004778195]pathogenic159893936198939361Humanname
12849961CV373901single nucleotide variantNM_000875.5(IGF1R):c.1590-1G>Cnot provided [RCV000439164]pathogenic159891304398913043Humanname
597888293CV3739242single nucleotide variantNM_000875.5(IGF1R):c.953+16A>Cnot provided [RCV005070789]likely benign159889165398891653Humanname
597861853CV3745127single nucleotide variantNM_000875.5(IGF1R):c.641-12C>Gnot provided [RCV005067483]likely benign159889131398891313Humanname
597849996CV3746759single nucleotide variantNM_000875.5(IGF1R):c.1997-6G>Cnot provided [RCV005066156]uncertain significance159891666698916666Humanname
12840890CV376968single nucleotide variantNM_000875.5(IGF1R):c.2201+5C>Gnot specified [RCV000431565]likely benign159891688198916881Humanname
597876634CV3810049single nucleotide variantNM_000875.5(IGF1R):c.641-19C>Gnot provided [RCV005151770]likely benign159889130698891306Humanname
597884090CV3819225single nucleotide variantNM_000875.5(IGF1R):c.1997-8C>Gnot provided [RCV005159035]likely benign159891666498916664Humanname
597899483CV3821819single nucleotide variantNM_000875.5(IGF1R):c.1248-8G>Tnot provided [RCV005174297]likely benign159890867798908677Humanname
598212908CV4009093single nucleotide variantNM_000875.5(IGF1R):c.2622+1G>AGrowth delay due to insulin-like growth factor I resistance [RCV005400776]likely pathogenic159892401398924013Human1name
617152434CV4018068single nucleotide variantNM_000875.5(IGF1R):c.3722+4C>Anot specified [RCV005417858]uncertain significance159894871298948712Humanname
12913845CV422069single nucleotide variantNM_000875.5(IGF1R):c.1997-6G>AGrowth delay due to insulin-like growth factor I resistance [RCV001331397]|not provided [RCV000494329]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance159891666698916666Human1name
13515233CV493391single nucleotide variantNM_000875.5(IGF1R):c.3187-5C>TGrowth delay due to insulin-like growth factor I resistance [RCV001121011]|not provided [RCV000594025]|not specified [RCV001796755]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance159893531198935311Human1name
15014848CV623662duplicationNM_000875.5(IGF1R):c.1247+1dupGrowth delay due to insulin-like growth factor I resistance [RCV000852355]pathogenic159889961998899620Human1name
15195035CV731034single nucleotide variantNM_000875.5(IGF1R):c.1247+3A>GGrowth delay due to insulin-like growth factor I resistance [RCV001118943]|not provided [RCV000889389]likely benign|uncertain significance159889962498899624Human1name
15183160CV744934single nucleotide variantNM_000875.5(IGF1R):c.3723-4G>AGrowth delay due to insulin-like growth factor I resistance [RCV001116094]|not provided [RCV000907998]benign|likely benign159895705798957057Human1name
15143454CV760380single nucleotide variantNM_000875.5(IGF1R):c.1248-6T>Cnot provided [RCV000922194]likely benign159890867998908679Humanname
15185929CV776449single nucleotide variantNM_000875.5(IGF1R):c.2485+8A>Gnot provided [RCV000931202]likely benign159892243998922439Humanname
15128029CV779744single nucleotide variantNM_000875.5(IGF1R):c.3298-9C>GGrowth delay due to insulin-like growth factor I resistance [RCV001121012]|IGF1R-related disorder [RCV004535936]|not provided [RCV000964010]benign159893919298939192Human1name , alternate_id
15125954CV787981single nucleotide variantNM_000875.5(IGF1R):c.1590-9G>Anot provided [RCV000980291]benign159891303598913035Humanname
28880183CV876598single nucleotide variantNM_000875.5(IGF1R):c.1997-8C>AGrowth delay due to insulin-like growth factor I resistance [RCV001117441]|not specified [RCV005419003]likely benign|uncertain significance159891666498916664Human1name
28885428CV876600single nucleotide variantNM_000875.5(IGF1R):c.2956+9C>GGrowth delay due to insulin-like growth factor I resistance [RCV001119043]uncertain significance159893031498930314Human1name
28891520CV876601single nucleotide variantNM_000875.5(IGF1R):c.3588-8C>GGrowth delay due to insulin-like growth factor I resistance [RCV001121015]uncertain significance159894856698948566Human1name
150411021CV1196153single nucleotide variantNM_000875.5(IGF1R):c.2202-16T>GGrowth delay due to insulin-like growth factor I resistance [RCV002495915]|not provided [RCV001573438]|not specified [RCV004587184]likely benign159892213298922132Human1name
150439044CV1274867single nucleotide variantNM_000875.5(IGF1R):c.2782+17G>AGrowth delay due to insulin-like growth factor I resistance [RCV002488475]|not provided [RCV001703245]|not specified [RCV001726671]benign|likely benign159892470198924701Human1name
156442684CV1948788single nucleotide variantNM_000875.5(IGF1R):c.1997-10T>Anot provided [RCV003113032]likely benign159891666298916662Humanname
156077375CV1952714single nucleotide variantNM_000875.5(IGF1R):c.1589+17G>Anot provided [RCV002569796]likely benign159891145898911458Humanname
156377533CV1956917single nucleotide variantNM_000875.5(IGF1R):c.2956+11G>Anot provided [RCV002582926]|not specified [RCV003491125]likely benign159893031698930316Humanname
156408109CV1957726single nucleotide variantNM_000875.5(IGF1R):c.1463-20G>Anot provided [RCV002586422]likely benign159891129598911295Humanname
156205676CV1959267single nucleotide variantNM_000875.5(IGF1R):c.2202-13C>Anot provided [RCV002574948]likely benign159892213598922135Humanname
156341108CV1961723single nucleotide variantNM_000875.5(IGF1R):c.2782+15G>Anot provided [RCV002580510]likely benign159892469998924699Humanname
156129880CV1962651single nucleotide variantNM_000875.5(IGF1R):c.3297+20G>Tnot provided [RCV002572187]likely benign159893544698935446Humanname
156398710CV1965959microsatelliteNM_000875.5(IGF1R):c.95-11TC[3]not provided [RCV002584640]likely benign159870755098707551Humanname
156412960CV1968889single nucleotide variantNM_000875.5(IGF1R):c.1102+16C>Gnot provided [RCV002608695]likely benign159889692198896921Humanname
155979594CV1972344single nucleotide variantNM_000875.5(IGF1R):c.3297+19C>Tnot provided [RCV002617538]likely benign159893544598935445Humanname
156325761CV1972687single nucleotide variantNM_000875.5(IGF1R):c.3458-20C>Tnot provided [RCV002600516]benign159894290398942903Humanname
156140557CV1973583single nucleotide variantNM_000875.5(IGF1R):c.3722+17C>Tnot provided [RCV002593817]likely benign159894872598948725Humanname
156132079CV1977088single nucleotide variantNM_000875.5(IGF1R):c.2956+17C>Tnot provided [RCV002593532]likely benign159893032298930322Humanname
156392074CV1991440single nucleotide variantNM_000875.5(IGF1R):c.2957-15C>Tnot provided [RCV002635092]likely benign159893480998934809Humanname
156333160CV2000744single nucleotide variantNM_000875.5(IGF1R):c.3588-18G>Tnot provided [RCV002649932]likely benign159894855698948556Humanname
156134790CV2044282single nucleotide variantNM_000875.5(IGF1R):c.1103-17A>Gnot provided [RCV002786306]benign159889946098899460Humanname
155905918CV2048141single nucleotide variantNM_000875.5(IGF1R):c.2622+12G>Anot provided [RCV002771263]likely benign159892402498924024Humanname
156121938CV2088072single nucleotide variantNM_000875.5(IGF1R):c.1829-18C>Gnot provided [RCV002871298]likely benign159891594698915946Humanname
155932253CV2129226single nucleotide variantNM_000875.5(IGF1R):c.2201+12A>Gnot provided [RCV002970695]likely benign159891688898916888Humanname
156111649CV2140191single nucleotide variantNM_000875.5(IGF1R):c.2485+18T>Cnot provided [RCV003002620]likely benign159892244998922449Humanname
11638191CV269169single nucleotide variantNM_000875.5(IGF1R):c.1590-20T>Cnot provided [RCV002059162]|not specified [RCV000298969]benign159891302498913024Humanname
405217716CV2873552single nucleotide variantNM_000875.5(IGF1R):c.2956+10C>Tnot provided [RCV003553437]likely benign159893031598930315Humanname
405066413CV2879230single nucleotide variantNM_000875.5(IGF1R):c.1248-11T>Cnot provided [RCV003548263]likely benign159890867498908674Humanname
405222122CV2908341single nucleotide variantNM_000875.5(IGF1R):c.1463-18A>Tnot provided [RCV003568594]likely benign159891129798911297Humanname
405235919CV2973272single nucleotide variantNM_000875.5(IGF1R):c.2485+17C>Gnot provided [RCV003683080]likely benign159892244898922448Humanname
404977822CV3012164single nucleotide variantNM_000875.5(IGF1R):c.3587+14T>Cnot provided [RCV003690697]likely benign159894306698943066Humanname
405119565CV3116213single nucleotide variantNM_000875.5(IGF1R):c.3723-17G>Anot provided [RCV003814703]likely benign159895704498957044Humanname
405209592CV3117281single nucleotide variantNM_000875.5(IGF1R):c.1248-17G>Tnot provided [RCV003823068]likely benign159890866898908668Humanname
405176751CV3119293single nucleotide variantNM_000875.5(IGF1R):c.2622+12G>Cnot provided [RCV003819578]likely benign159892402498924024Humanname
405085307CV3122012single nucleotide variantNM_000875.5(IGF1R):c.2202-18T>Cnot provided [RCV003810767]benign159892213098922130Humanname
405218721CV3135747single nucleotide variantNM_000875.5(IGF1R):c.1463-16G>Anot provided [RCV003824372]likely benign159891129998911299Humanname
405227650CV3142867single nucleotide variantNM_000875.5(IGF1R):c.3723-18C>Tnot provided [RCV003848210]likely benign159895704398957043Humanname
405172353CV3151781single nucleotide variantNM_000875.5(IGF1R):c.3588-15T>Cnot provided [RCV003857932]likely benign159894855998948559Humanname
405157794CV3152506single nucleotide variantNM_000875.5(IGF1R):c.3458-18C>Tnot provided [RCV003840433]likely benign159894290598942905Humanname
405157564CV3152598single nucleotide variantNM_000875.5(IGF1R):c.1996+17G>Anot provided [RCV003840525]likely benign159891614898916148Humanname
405181118CV3159481single nucleotide variantNM_000875.5(IGF1R):c.1997-14T>Anot provided [RCV003858731]likely benign159891665898916658Humanname
405201551CV3164578single nucleotide variantNM_000875.5(IGF1R):c.3297+20G>Anot provided [RCV003860635]likely benign159893544698935446Humanname
11612079CV323619single nucleotide variantNM_000875.5(IGF1R):c.1247+10C>TGrowth delay due to insulin-like growth factor I resistance [RCV000403752]uncertain significance159889963198899631Human1name
11664143CV323675microsatelliteNM_000875.5(IGF1R):c.*1332TC[1]Growth delay due to insulin-like growth factor I resistance [RCV000402972]uncertain significance159895877398958774Humanname
11605856CV323691microsatelliteNM_000875.5(IGF1R):c.*1753AT[7]Growth delay due to insulin-like growth factor I resistance [RCV000324485]likely benign159895919498959195Humanname
11606639CV323741microsatelliteNM_000875.5(IGF1R):c.*2529GT[6]Growth delay due to insulin-like growth factor I resistance [RCV000333693]benign159895997198959972Humanname
11618412CV340117single nucleotide variantNM_000875.5(IGF1R):c.1462+15C>GGrowth delay due to insulin-like growth factor I resistance [RCV000313833]|not provided [RCV002056475]|not specified [RCV001573778]benign|uncertain significance159890891498908914Human1name
11622863CV340124single nucleotide variantNM_000875.5(IGF1R):c.1828+11C>TGrowth delay due to insulin-like growth factor I resistance [RCV000365279]|not provided [RCV002520980]likely benign|uncertain significance159891329398913293Human1name
11661678CV340164microsatelliteNM_000875.5(IGF1R):c.*1753AT[3]Growth delay due to insulin-like growth factor I resistance [RCV000379023]uncertain significance159895919598959200Humanname
11666412CV353334deletionNM_000875.5(IGF1R):c.-41_-33delGrowth delay due to insulin-like growth factor I resistance [RCV000342071]benign|likely benign159864952698649534Human1name
597907055CV3738861single nucleotide variantNM_000875.5(IGF1R):c.3457+13C>Tnot provided [RCV005073096]likely benign159893937398939373Humanname
597885767CV3741717single nucleotide variantNM_000875.5(IGF1R):c.3722+19C>Tnot provided [RCV005070436]likely benign159894872798948727Humanname
597911385CV3745608single nucleotide variantNM_000875.5(IGF1R):c.1996+16C>Tnot provided [RCV005073609]likely benign159891614798916147Humanname
597850629CV3761837single nucleotide variantNM_000875.5(IGF1R):c.3297+11A>Gnot provided [RCV005087933]|not specified [RCV005087934]likely benign159893543798935437Humanname
597851652CV3782455single nucleotide variantNM_000875.5(IGF1R):c.3457+10T>Gnot provided [RCV005126680]likely benign159893937098939370Humanname
597900994CV3823307single nucleotide variantNM_000875.5(IGF1R):c.2885+17G>Anot provided [RCV005175657]likely benign159892967798929677Humanname
597896559CV3828807single nucleotide variantNM_000875.5(IGF1R):c.1829-14G>Tnot provided [RCV005171500]likely benign159891595098915950Humanname
597927627CV3851364single nucleotide variantNM_000875.5(IGF1R):c.1103-16T>Cnot provided [RCV005202140]likely benign159889946198899461Humanname
28885120CV876597single nucleotide variantNM_000875.5(IGF1R):c.1462+13A>GGrowth delay due to insulin-like growth factor I resistance [RCV001118946]uncertain significance159890891298908912Human1name
28885421CV876599single nucleotide variantNM_000875.5(IGF1R):c.2885+15A>GGrowth delay due to insulin-like growth factor I resistance [RCV001119041]|not provided [RCV002069933]benign|likely benign159892967598929675Human1name
8584696CV119272single nucleotide variantNM_000875.4(IGF1R):c.2957-633A>TLung cancer [RCV000099792]uncertain significance159893419198934191Humanname
405177617CV3147006microsatelliteNM_000875.5(IGF1R):c.641-14CT[3]not provided [RCV003842102]likely benign159889131198891312Humanname
405220377CV2904223deletionNM_000875.5(IGF1R):c.94+3_94+6delnot provided [RCV003568339]uncertain significance159864967598649678Humanname
11624958CV333355deletionNM_000875.5(IGF1R):c.*417_*418delGrowth delay due to insulin-like growth factor I resistance [RCV000393036]benign159895785998957860Human1name
401904531CV2814520duplicationNM_000875.5(IGF1R):c.*3470_*3471dupnot provided [RCV003395059]likely benign159896090598960906Humanname
405085866CV3122049microsatelliteNM_000875.5(IGF1R):c.94+10_94+11delnot provided [RCV003810804]likely benign159864968398649684Humanname
405003804CV3184501deletionNM_000875.5(IGF1R):c.3178_3186+7delGrowth delay due to insulin-like growth factor I resistance [RCV003883290]uncertain significance159893504598935060Human1name
405263931CV3189819duplicationNM_000875.5(IGF1R):c.*2425_*2426dupIGF1R-related disorder [RCV004534438]likely benign159895985498959855Humanname , trait , alternate_id
405258820CV3194115deletionNM_000875.5(IGF1R):c.*2424_*2427delIGF1R-related disorder [RCV004539212]likely benign159895986698959869Humanname , trait , alternate_id
11651095CV323673deletionNM_000875.5(IGF1R):c.*1267_*1268delGrowth delay due to insulin-like growth factor I resistance [RCV000296960]uncertain significance159895870198958702Human1name
11654641CV323728deletionNM_000875.5(IGF1R):c.*2428_*2431delGrowth delay due to insulin-like growth factor I resistance [RCV000319527]uncertain significance159895987098959873Human1name
11661215CV323735deletionNM_000875.5(IGF1R):c.*2430_*2431delGrowth delay due to insulin-like growth factor I resistance [RCV000374216]uncertain significance159895987198959872Human1name
11647526CV323801deletionNM_000875.5(IGF1R):c.*5720_*5724delGrowth delay due to insulin-like growth factor I resistance [RCV000277064]uncertain significance159896315998963163Human1name
11655781CV323802deletionNM_000875.5(IGF1R):c.*5736_*5739delGrowth delay due to insulin-like growth factor I resistance [RCV000328439]likely benign159896317398963176Human1name
11661647CV323812deletionNM_000875.5(IGF1R):c.*6266_*6268delGrowth delay due to insulin-like growth factor I resistance [RCV000378665]uncertain significance159896370698963708Human1name
11659863CV323835deletionNM_000875.5(IGF1R):c.*6784_*6786delGrowth delay due to insulin-like growth factor I resistance [RCV000362081]uncertain significance159896422498964226Human1name
11614594CV333490deletionNM_000875.5(IGF1R):c.*5788_*5789delGrowth delay due to insulin-like growth factor I resistance [RCV000278451]|not provided [RCV004693258]uncertain significance159896321498963215Human1name
11662653CV340169deletionNM_000875.5(IGF1R):c.*2610_*2613delGrowth delay due to insulin-like growth factor I resistance [RCV000388318]|not provided [RCV004693255]uncertain significance159896005098960053Human1name
11625649CV340170duplicationNM_000875.5(IGF1R):c.*2856_*2857dupGrowth delay due to insulin-like growth factor I resistance [RCV000401684]benign159896029298960293Human1name
11620715CV340172deletionNM_000875.5(IGF1R):c.*2858_*2860delGrowth delay due to insulin-like growth factor I resistance [RCV000340361]benign159896029898960300Human1name
11662001CV340238deletionNM_000875.5(IGF1R):c.*5730_*5733delGrowth delay due to insulin-like growth factor I resistance [RCV000382119]uncertain significance159896317298963175Human1name
11661990CV340256deletionNM_000875.5(IGF1R):c.*6977_*6979delGrowth delay due to insulin-like growth factor I resistance [RCV000382033]|not provided [RCV003391147]likely benign|uncertain significance159896441798964419Human1name
11615875CV340257duplicationNM_000875.5(IGF1R):c.*7046_*7050dupGrowth delay due to insulin-like growth factor I resistance [RCV000289972]likely benign159896448398964484Human1name
11648038CV341590deletionNM_000875.5(IGF1R):c.*1767_*1770delGrowth delay due to insulin-like growth factor I resistance [RCV000279960]uncertain significance159895920698959209Human1name
11650388CV341596deletionNM_000875.5(IGF1R):c.*2448_*2452delGrowth delay due to insulin-like growth factor I resistance [RCV000292777]uncertain significance159895988698959890Human1name
11634898CV341601duplicationNM_000875.5(IGF1R):c.*2854_*2857dupGrowth delay due to insulin-like growth factor I resistance [RCV000290131]uncertain significance159896029298960293Human1name
11646284CV341625deletionNM_000875.5(IGF1R):c.*3878_*3881delGrowth delay due to insulin-like growth factor I resistance [RCV000270108]uncertain significance159896131798961320Human1name
597894534CV3828665deletionNM_000875.5(IGF1R):c.94+17_94+23delnot provided [RCV005169294]likely benign159864968698649692Humanname
156414656CV1982915microsatelliteNM_000875.5(IGF1R):c.2202-8_2202-6delnot provided [RCV002609303]likely benign159892213598922137Humanname
11661422CV340144insertionNM_000875.5(IGF1R):c.*1155_*1156insGTGrowth delay due to insulin-like growth factor I resistance [RCV000376244]uncertain significance159895859698958597Human1name
155952213CV2043780inversionNM_000875.5(IGF1R):c.1590-20_1590-19invnot provided [RCV002775833]uncertain significance159891302498913025Humanname
126725445CV1018019single nucleotide variantNM_000875.5(IGF1R):c.4066G>A (p.Glu1356Lys)Growth delay due to insulin-like growth factor I resistance [RCV001331401]|IGF1R-related disorder [RCV004531116]|Inborn genetic diseases [RCV002546474]|not provided [RCV002546473]uncertain significance159895740498957404Human2alternate_id
152086302CV1589747single nucleotide variantNM_000875.5(IGF1R):c.588C>G (p.Thr196=)IGF1R-related disorder [RCV004545238]|not provided [RCV002193681]benign|likely benign159870805598708055Human1name , alternate_id
152075616CV1616739single nucleotide variantNM_000875.5(IGF1R):c.1473C>T (p.Asp491=)IGF1R-related disorder [RCV004545251]|not provided [RCV002210551]likely benign159891132598911325Human1name , alternate_id
10050660CV192262single nucleotide variantNM_000875.5(IGF1R):c.568C>T (p.Pro190Ser)Growth delay due to insulin-like growth factor I resistance [RCV001117329]|IGF1R-related disorder [RCV004537386]|not provided [RCV000175644]likely benign|conflicting interpretations of pathogenicity|uncertain significance159870803598708035Human1alternate_id
156437099CV1936928single nucleotide variantNM_000875.5(IGF1R):c.3870G>A (p.Pro1290=)IGF1R-related disorder [RCV004540610]|not provided [RCV003106630]likely benign159895720898957208Human1alternate_id
10048973CV195269single nucleotide variantNM_000875.5(IGF1R):c.1310G>A (p.Arg437His)Growth delay due to insulin-like growth factor I resistance [RCV001118944]|IGF1R-related disorder [RCV004537486]|not provided [RCV000513938]|not specified [RCV000179350]benign|likely benign159890874798908747Human1alternate_id
10053393CV196203single nucleotide variantNM_000875.5(IGF1R):c.1963G>A (p.Gly655Ser)IGF1R-related disorder [RCV004537511]|not provided [RCV000180533]uncertain significance159891609898916098Human1alternate_id
156140887CV1973597single nucleotide variantNM_000875.5(IGF1R):c.3846C>T (p.Ser1282=)IGF1R-related disorder [RCV004545348]|not provided [RCV002593827]likely benign159895718498957184Human1alternate_id
156286084CV2345635single nucleotide variantNM_000875.5(IGF1R):c.2663A>G (p.Tyr888Cys)IGF1R-related disorder [RCV004736294]|Inborn genetic diseases [RCV002989699]uncertain significance159892456598924565Human2alternate_id
11641192CV266569single nucleotide variantNM_000875.5(IGF1R):c.1336A>G (p.Met446Val)Growth delay due to insulin-like growth factor I resistance [RCV001118945]|IGF1R-related disorder [RCV004535278]|not provided [RCV000883793]|not specified [RCV000352493]benign|likely benign|conflicting interpretations of pathogenicity159890877398908773Human1alternate_id
11636759CV267211single nucleotide variantNM_000875.5(IGF1R):c.1956T>G (p.Pro652=)IGF1R-related disorder [RCV004543017]|not provided [RCV000274313]likely benign|conflicting interpretations of pathogenicity|uncertain significance159891609198916091Human1name , alternate_id
11579672CV271673single nucleotide variantNM_000875.5(IGF1R):c.4038C>T (p.Tyr1346=)Growth delay due to insulin-like growth factor I resistance [RCV000309628]|IGF1R-related disorder [RCV004543105]|not provided [RCV001764252]|not specified [RCV000312383]benign|likely benign159895737698957376Human1alternate_id
401923028CV2796681single nucleotide variantNM_000875.5(IGF1R):c.994T>G (p.Cys332Gly)IGF1R-related disorder [RCV004531536]uncertain significance159889679798896797Humanname , trait , alternate_id
401937923CV2797161deletionNM_000875.5(IGF1R):c.2881_2884del (p.Lys961fs)IGF1R-related disorder [RCV004528702]likely pathogenic159892965398929656Humantrait , alternate_id
401902898CV2799797single nucleotide variantNM_000875.5(IGF1R):c.1222A>C (p.Ile408Leu)IGF1R-related disorder [RCV004534325]uncertain significance159889959698899596Humantrait , alternate_id
401907214CV2800150single nucleotide variantNM_000875.5(IGF1R):c.1486A>G (p.Thr496Ala)IGF1R-related disorder [RCV004529641]uncertain significance159891133898911338Humantrait , alternate_id
401908639CV2801388single nucleotide variantNM_000875.5(IGF1R):c.3763A>C (p.Met1255Leu)IGF1R-related disorder [RCV004528569]uncertain significance159895710198957101Humantrait , alternate_id
401907213CV2804883single nucleotide variantNM_000875.5(IGF1R):c.3601G>A (p.Val1201Ile)IGF1R-related disorder [RCV004536649]uncertain significance159894858798948587Humantrait , alternate_id
401904526CV2814513single nucleotide variantNM_000875.5(IGF1R):c.699C>T (p.Pro233=)IGF1R-related disorder [RCV004540663]|not provided [RCV003395054]likely benign159889138398891383Human1name , alternate_id
405224046CV2891352single nucleotide variantNM_000875.5(IGF1R):c.1572C>T (p.Thr524=)IGF1R-related disorder [RCV004536853]|not provided [RCV003554268]likely benign159891142498911424Human1name , alternate_id
8564457CV29833single nucleotide variantNM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln)Growth delay due to insulin-like growth factor I resistance [RCV000015917]|IGF1R-related disorder [RCV004734520]|not provided [RCV000487894]|not specified [RCV001818163]pathogenic|likely benign|conflicting interpretations of pathogenicity|protective|uncertain significance159891138498911384Human1alternate_id
404991987CV3132330single nucleotide variantNM_000875.5(IGF1R):c.3372A>G (p.Ala1124=)IGF1R-related disorder [RCV004539154]|not provided [RCV003827268]likely benign159893927598939275Human1name , alternate_id
405280052CV3200237single nucleotide variantNM_000875.5(IGF1R):c.1242A>G (p.Leu414=)IGF1R-related disorder [RCV004542498]|not provided [RCV005064917]likely benign159889961698899616Human1name , alternate_id
405271489CV3202822single nucleotide variantNM_000875.5(IGF1R):c.2856G>A (p.Val952=)IGF1R-related disorder [RCV004539340]likely benign159892963198929631Humanname , trait , alternate_id
405258266CV3203136single nucleotide variantNM_000875.5(IGF1R):c.2092C>T (p.Pro698Ser)IGF1R-related disorder [RCV004532150]uncertain significance159891676798916767Humantrait , alternate_id
405260927CV3204404single nucleotide variantNM_000875.5(IGF1R):c.831G>A (p.Val277=)IGF1R-related disorder [RCV004542415]likely benign159889151598891515Humanname , trait , alternate_id
405258060CV3208135single nucleotide variantNM_000875.5(IGF1R):c.2019T>C (p.Tyr673=)IGF1R-related disorder [RCV004532143]likely benign159891669498916694Humanname , trait , alternate_id
405284313CV3213656single nucleotide variantNM_000875.5(IGF1R):c.1446C>T (p.Asn482=)IGF1R-related disorder [RCV004539458]|not provided [RCV005064800]likely benign159890888398908883Human1name , alternate_id
405271200CV3218987single nucleotide variantNM_000875.5(IGF1R):c.123C>T (p.Asn41=)IGF1R-related disorder [RCV004545655]|not provided [RCV005102994]likely benign159870759098707590Human1name , alternate_id
11607100CV323603single nucleotide variantNM_000875.5(IGF1R):c.864C>T (p.Ala288=)Growth delay due to insulin-like growth factor I resistance [RCV000339280]|IGF1R-related disorder [RCV004537791]|not provided [RCV000957341]benign|likely benign159889154898891548Human1name , alternate_id
11606710CV323612single nucleotide variantNM_000875.5(IGF1R):c.903C>A (p.Gly301=)Growth delay due to insulin-like growth factor I resistance [RCV000334977]|IGF1R-related disorder [RCV004537792]|not provided [RCV002061189]|not specified [RCV001573679]benign|likely benign159889158798891587Human1name , alternate_id
11618313CV340119single nucleotide variantNM_000875.5(IGF1R):c.1686G>A (p.Val562=)Growth delay due to insulin-like growth factor I resistance [RCV000312821]|IGF1R-related disorder [RCV004544568]|not provided [RCV000954154]|not specified [RCV001727682]benign|uncertain significance159891314098913140Human1name , alternate_id
11626173CV341557single nucleotide variantNM_000875.5(IGF1R):c.885G>A (p.Gly295=)Growth delay due to insulin-like growth factor I resistance [RCV000408204]|IGF1R-related disorder [RCV004544567]|not provided [RCV000965992]benign|likely benign159889156998891569Human1name , alternate_id
408370950CV3505872single nucleotide variantNM_000875.5(IGF1R):c.923C>T (p.Pro308Leu)IGF1R-related disorder [RCV004724307]uncertain significance159889160798891607Humanname , trait , alternate_id
408368277CV3509464single nucleotide variantNM_000875.5(IGF1R):c.440C>T (p.Ala147Val)IGF1R-related disorder [RCV004734993]uncertain significance159870790798707907Humanname , trait , alternate_id
408368898CV3517367single nucleotide variantNM_000875.5(IGF1R):c.3060T>C (p.Gly1020=)IGF1R-related disorder [RCV004736104]likely benign159893492798934927Humanname , trait , alternate_id
12913102CV422068single nucleotide variantNM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu)IGF1R-related disorder [RCV000844968]|not provided [RCV000493390]likely pathogenic|not provided159891599798915997Human1alternate_id
13516114CV489117single nucleotide variantNM_000875.5(IGF1R):c.885G>T (p.Gly295=)Growth delay due to insulin-like growth factor I resistance [RCV001117332]|IGF1R-related disorder [RCV004543324]|not provided [RCV000595117]likely benign|conflicting interpretations of pathogenicity|uncertain significance159889156998891569Human1name , alternate_id
13524159CV490864single nucleotide variantNM_000875.5(IGF1R):c.850A>T (p.Asn284Tyr)Growth delay due to insulin-like growth factor I resistance [RCV001331403]|IGF1R-related disorder [RCV004530685]|not provided [RCV000598254]uncertain significance159889153498891534Human1alternate_id
13519436CV492694single nucleotide variantNM_000875.5(IGF1R):c.84G>A (p.Thr28=)Growth delay due to insulin-like growth factor I resistance [RCV001115871]|IGF1R-related disorder [RCV004543372]|not provided [RCV000597923]likely benign|conflicting interpretations of pathogenicity|uncertain significance159864966598649665Human1name , alternate_id
13836647CV587925single nucleotide variantNM_000875.5(IGF1R):c.1500G>A (p.Thr500=)Growth delay due to insulin-like growth factor I resistance [RCV001120906]|IGF1R-related disorder [RCV004735784]|not provided [RCV000732827]likely benign|conflicting interpretations of pathogenicity|uncertain significance159891135298911352Human1name , alternate_id
13837485CV588775single nucleotide variantNM_000875.5(IGF1R):c.318C>T (p.Ile106=)IGF1R-related disorder [RCV004540071]|not provided [RCV000733917]likely benign|uncertain significance159870778598707785Human1name , alternate_id
15185571CV703433single nucleotide variantNM_000875.5(IGF1R):c.942C>T (p.Asn314=)IGF1R-related disorder [RCV004533671]|not provided [RCV000953023]likely benign159889162698891626Human1name , alternate_id
15102187CV703434single nucleotide variantNM_000875.5(IGF1R):c.4095G>A (p.Ser1365=)IGF1R-related disorder [RCV004533702]|not provided [RCV000959244]likely benign159895743398957433Human1alternate_id
15135557CV714697single nucleotide variantNM_000875.5(IGF1R):c.1949G>A (p.Arg650Gln)Growth delay due to insulin-like growth factor I resistance [RCV005392593]|IGF1R-related disorder [RCV004543618]|not provided [RCV000965308]|not specified [RCV001796337]benign|likely benign159891608498916084Human1alternate_id
15186291CV726370single nucleotide variantNM_000875.5(IGF1R):c.402G>A (p.Arg134=)Growth delay due to insulin-like growth factor I resistance [RCV001115874]|IGF1R-related disorder [RCV004541806]|not provided [RCV000886934]benign159870786998707869Human1name , alternate_id
15177663CV726372single nucleotide variantNM_000875.5(IGF1R):c.846C>T (p.Cys282=)Growth delay due to insulin-like growth factor I resistance [RCV001117331]|IGF1R-related disorder [RCV004541798]|not provided [RCV000884880]benign159889153098891530Human1name , alternate_id
15193049CV726373single nucleotide variantNM_000875.5(IGF1R):c.1162G>A (p.Val388Met)IGF1R-related disorder [RCV004530955]|not provided [RCV000888839]benign|likely benign159889953698899536Human1alternate_id
15114822CV754819single nucleotide variantNM_000875.5(IGF1R):c.2304G>A (p.Pro768=)IGF1R-related disorder [RCV004533527]|not provided [RCV000917347]likely benign159892225098922250Human1name , alternate_id
15196325CV754822single nucleotide variantNM_000875.5(IGF1R):c.3108C>T (p.Asn1036=)Growth delay due to insulin-like growth factor I resistance [RCV001119044]|IGF1R-related disorder [RCV004541945]|not provided [RCV000911664]likely benign|uncertain significance159893497598934975Human1alternate_id
15098260CV754825single nucleotide variantNM_000875.5(IGF1R):c.3582C>T (p.Asp1194=)Growth delay due to insulin-like growth factor I resistance [RCV001121014]|IGF1R-related disorder [RCV004533506]|not provided [RCV000914205]benign|likely benign159894304798943047Human1alternate_id
28875835CV874349single nucleotide variantNM_000875.5(IGF1R):c.3654C>T (p.Asn1218=)Growth delay due to insulin-like growth factor I resistance [RCV001116092]|IGF1R-related disorder [RCV004538339]|not provided [RCV003769151]likely benign|uncertain significance159894864098948640Human1name , alternate_id
15201165CV726369single nucleotide variantNM_000875.5(IGF1R):c.15C>T (p.Ser5=)not provided [RCV000891118]benign159864959698649596Humanname
401947044CV2832152single nucleotide variantNM_000875.5(IGF1R):c.2T>A (p.Met1Lys)Growth delay due to insulin-like growth factor I resistance [RCV003447677]likely pathogenic159864958398649583Human1name
405186070CV2963972single nucleotide variantNM_000875.5(IGF1R):c.60C>T (p.Ser20=)not provided [RCV003676760]likely benign159864964198649641Humanname
405161215CV3125098single nucleotide variantNM_000875.5(IGF1R):c.99C>T (p.Cys33=)not provided [RCV003818369]likely benign159870756698707566Humanname
405229963CV3176697single nucleotide variantNM_000875.5(IGF1R):c.48C>A (p.Leu16=)not provided [RCV003865071]likely benign159864962998649629Humanname
597949510CV3759302single nucleotide variantNM_000875.5(IGF1R):c.84G>C (p.Thr28=)not provided [RCV005079099]likely benign159864966598649665Humanname
598125357CV3883953single nucleotide variantNM_000875.5(IGF1R):c.4A>C (p.Lys2Gln)not provided [RCV005236308]uncertain significance159864958598649585Humanname
15104640CV754813single nucleotide variantNM_000875.5(IGF1R):c.75C>T (p.Leu25=)not provided [RCV000915389]likely benign159864965698649656Humanname
150476412CV1203035single nucleotide variantNM_000875.5(IGF1R):c.16G>A (p.Gly6Arg)not provided [RCV001589629]likely benign159864959798649597Humanname
151235624CV1318972single nucleotide variantNM_000875.5(IGF1R):c.237G>A (p.Thr79=)not provided [RCV001795788]benign|likely benign159870770498707704Humanname
152059030CV1536005single nucleotide variantNM_000875.5(IGF1R):c.201C>T (p.Ala67=)not provided [RCV002146561]likely benign159870766898707668Humanname
156252727CV1967279single nucleotide variantNM_000875.5(IGF1R):c.159G>A (p.Thr53=)not provided [RCV002597523]likely benign159870762698707626Humanname
155983004CV2163228single nucleotide variantNM_000875.5(IGF1R):c.237G>C (p.Thr79=)not provided [RCV003033968]likely benign159870770498707704Humanname
11581649CV265408single nucleotide variantNM_000875.5(IGF1R):c.225C>T (p.Phe75=)Growth delay due to insulin-like growth factor I resistance [RCV000378865]|not provided [RCV000906621]|not specified [RCV000265225]benign|likely benign|uncertain significance159870769298707692Human1name
402502721CV3032511deletionNM_000875.5(IGF1R):c.45del (p.Leu16fs)not provided [RCV003714909]pathogenic159864962298649622Humanname
405116277CV3115847single nucleotide variantNM_000875.5(IGF1R):c.246C>T (p.Thr82=)not provided [RCV003814337]likely benign159870771398707713Humanname
597899787CV3740977single nucleotide variantNM_000875.5(IGF1R):c.252C>T (p.Tyr84=)not provided [RCV005072140]likely benign159870771998707719Humanname
597840219CV3770830single nucleotide variantNM_000875.5(IGF1R):c.156C>T (p.Cys52=)not provided [RCV005113948]likely benign159870762398707623Humanname
597882060CV3827075single nucleotide variantNM_000875.5(IGF1R):c.288C>T (p.Leu96=)not provided [RCV005157088]likely benign159870775598707755Humanname
597896396CV3828467single nucleotide variantNM_000875.5(IGF1R):c.14C>G (p.Ser5Cys)not provided [RCV005171360]uncertain significance159864959598649595Humanname
13837678CV588968single nucleotide variantNM_000875.5(IGF1R):c.189C>T (p.Leu63=)not provided [RCV000734166]conflicting interpretations of pathogenicity|uncertain significance159870765698707656Humanname
15134598CV739898single nucleotide variantNM_000875.5(IGF1R):c.237G>T (p.Thr79=)not provided [RCV000898318]benign159870770498707704Humanname
15125946CV785079single nucleotide variantNM_000875.5(IGF1R):c.279C>T (p.Leu93=)not provided [RCV000980290]likely benign159870774698707746Humanname
28875367CV874336single nucleotide variantNM_000875.5(IGF1R):c.114C>T (p.Asp38=)Growth delay due to insulin-like growth factor I resistance [RCV001115872]uncertain significance159870758198707581Human1name
28875369CV874337single nucleotide variantNM_000875.5(IGF1R):c.261G>C (p.Leu87=)Growth delay due to insulin-like growth factor I resistance [RCV001115873]uncertain significance159870772898707728Human1name
126909128CV1053126single nucleotide variantNM_000875.5(IGF1R):c.77G>A (p.Trp26Ter)Neurodevelopmental disorder [RCV001374981]likely pathogenic159864965898649658Human1name
156403968CV1886484single nucleotide variantNM_000875.5(IGF1R):c.795G>T (p.Pro265=)not provided [RCV003069595]benign159889147998891479Humanname
156403987CV1886496single nucleotide variantNM_000875.5(IGF1R):c.492G>T (p.Val164=)not provided [RCV003069600]benign159870795998707959Humanname
156373588CV1932919single nucleotide variantNM_000875.5(IGF1R):c.915G>A (p.Gln305=)not provided [RCV002633627]likely benign159889159998891599Humanname
156408608CV1954446single nucleotide variantNM_000875.5(IGF1R):c.303C>A (p.Pro101=)not provided [RCV002586561]likely benign159870777098707770Humanname
156340575CV1961669single nucleotide variantNM_000875.5(IGF1R):c.300C>T (p.Phe100=)not provided [RCV002580484]likely benign159870776798707767Humanname
156124746CV1992880single nucleotide variantNM_000875.5(IGF1R):c.28C>T (p.Pro10Ser)not provided [RCV002623082]uncertain significance159864960998649609Humanname
156035660CV2002627single nucleotide variantNM_000875.5(IGF1R):c.80C>T (p.Pro27Leu)Inborn genetic diseases [RCV005343461]|not provided [RCV002658840]uncertain significance159864966198649661Human1name
156050949CV2027319single nucleotide variantNM_000875.5(IGF1R):c.879C>T (p.Ser293=)not provided [RCV002736509]likely benign159889156398891563Humanname
155920002CV2032088single nucleotide variantNM_000875.5(IGF1R):c.807C>T (p.Tyr269=)not provided [RCV002727336]likely benign159889149198891491Humanname
155953847CV2043890single nucleotide variantNM_000875.5(IGF1R):c.303C>T (p.Pro101=)not provided [RCV002775917]likely benign159870777098707770Humanname
155996529CV2045281single nucleotide variantNM_000875.5(IGF1R):c.732C>T (p.Asn244=)not provided [RCV002755989]likely benign159889141698891416Humanname
156219351CV2047820single nucleotide variantNM_000875.5(IGF1R):c.489G>A (p.Ala163=)not provided [RCV002790570]likely benign159870795698707956Humanname
156115866CV2065833single nucleotide variantNM_000875.5(IGF1R):c.384T>A (p.Ile128=)not provided [RCV002871073]likely benign159870785198707851Humanname
156118845CV2081537single nucleotide variantNM_000875.5(IGF1R):c.840C>T (p.Asp280=)not provided [RCV002889477]likely benign159889152498891524Humanname
156156480CV2098770single nucleotide variantNM_000875.5(IGF1R):c.861C>T (p.Ser287=)not provided [RCV002890830]likely benign159889154598891545Humanname
156029325CV2131568single nucleotide variantNM_000875.5(IGF1R):c.570G>A (p.Pro190=)not provided [RCV002976533]likely benign159870803798708037Humanname
156249595CV2314169single nucleotide variantNM_000875.5(IGF1R):c.71C>G (p.Ser24Trp)Inborn genetic diseases [RCV002919833]uncertain significance159864965298649652Human1name
401735887CV2702982single nucleotide variantNM_000875.5(IGF1R):c.59C>T (p.Ser20Phe)Inborn genetic diseases [RCV003273033]|not provided [RCV003730508]uncertain significance159864964098649640Human1name
401859340CV2771537single nucleotide variantNM_000875.5(IGF1R):c.35C>G (p.Ser12Trp)Inborn genetic diseases [RCV003357072]uncertain significance159864961698649616Human1name
405246499CV2970147single nucleotide variantNM_000875.5(IGF1R):c.321C>G (p.Arg107=)not provided [RCV003685439]likely benign159870778898707788Humanname
405196346CV2976035single nucleotide variantNM_000875.5(IGF1R):c.492G>A (p.Val164=)not provided [RCV003677699]likely benign159870795998707959Humanname
402520627CV3002298single nucleotide variantNM_000875.5(IGF1R):c.474C>T (p.Ser158=)not provided [RCV003690130]likely benign159870794198707941Humanname
405142747CV3023025single nucleotide variantNM_000875.5(IGF1R):c.717C>T (p.Cys239=)not provided [RCV003702662]likely benign159889140198891401Humanname
405234159CV3032366single nucleotide variantNM_000875.5(IGF1R):c.738G>A (p.Thr246=)not provided [RCV003712015]likely benign159889142298891422Humanname
405218636CV3049175single nucleotide variantNM_000875.5(IGF1R):c.55C>T (p.Leu19Phe)Inborn genetic diseases [RCV005353262]|not provided [RCV003732984]uncertain significance159864963698649636Human1name
405192894CV3069974single nucleotide variantNM_000875.5(IGF1R):c.795G>A (p.Pro265=)not provided [RCV003729762]likely benign159889147998891479Humanname
405029239CV3080494single nucleotide variantNM_000875.5(IGF1R):c.606C>T (p.Asn202=)not provided [RCV003739016]likely benign159870807398708073Humanname
405084463CV3137653single nucleotide variantNM_000875.5(IGF1R):c.954C>T (p.Ser318=)not provided [RCV003834362]uncertain significance159889675798896757Humanname
405234662CV3155564single nucleotide variantNM_000875.5(IGF1R):c.729C>T (p.Asp243=)not provided [RCV003853542]likely benign159889141398891413Humanname
405246330CV3162289single nucleotide variantNM_000875.5(IGF1R):c.330A>G (p.Lys110=)not provided [RCV003868808]likely benign159870779798707797Humanname
596927279CV3532547single nucleotide variantNM_000875.5(IGF1R):c.74T>G (p.Leu25Arg)Inborn genetic diseases [RCV004987230]|not provided [RCV004778645]uncertain significance159864965598649655Human1name
597918183CV3737803single nucleotide variantNM_000875.5(IGF1R):c.29C>G (p.Pro10Arg)not provided [RCV005074402]uncertain significance159864961098649610Humanname
597834471CV3739506single nucleotide variantNM_000875.5(IGF1R):c.585C>T (p.Thr195=)not provided [RCV005063725]likely benign159870805298708052Humanname
597949541CV3745980single nucleotide variantNM_000875.5(IGF1R):c.541C>T (p.Leu181=)not provided [RCV005079164]likely benign159870800898708008Humanname
597847853CV3746407single nucleotide variantNM_000875.5(IGF1R):c.684T>C (p.Asn228=)not provided [RCV005060225]likely benign159889136898891368Humanname
597857024CV3758872single nucleotide variantNM_000875.5(IGF1R):c.675C>T (p.Thr225=)not provided [RCV005088832]likely benign159889135998891359Humanname
597846980CV3761960single nucleotide variantNM_000875.5(IGF1R):c.450T>C (p.Cys150=)not provided [RCV005087378]likely benign159870791798707917Humanname
597847718CV3775575single nucleotide variantNM_000875.5(IGF1R):c.393C>T (p.Tyr131=)not provided [RCV005123305]likely benign159870786098707860Humanname
597850966CV3785507single nucleotide variantNM_000875.5(IGF1R):c.903C>T (p.Gly301=)not provided [RCV005126093]uncertain significance159889158798891587Humanname
597864684CV3795300single nucleotide variantNM_000875.5(IGF1R):c.47T>A (p.Leu16His)not provided [RCV005138992]uncertain significance159864962898649628Humanname
597862920CV3796197single nucleotide variantNM_000875.5(IGF1R):c.900C>T (p.Asp300=)not provided [RCV005137014]likely benign159889158498891584Humanname
597884863CV3812462single nucleotide variantNM_000875.5(IGF1R):c.80C>A (p.Pro27Gln)not provided [RCV005159672]uncertain significance159864966198649661Humanname
597903811CV3822911single nucleotide variantNM_000875.5(IGF1R):c.819C>T (p.Gly273=)not provided [RCV005178237]likely benign159889150398891503Humanname
597918280CV3840905single nucleotide variantNM_000875.5(IGF1R):c.897C>T (p.His299=)not provided [RCV005193198]likely benign159889158198891581Humanname
597914254CV3852327single nucleotide variantNM_000875.5(IGF1R):c.936C>T (p.Ile312=)not provided [RCV005189404]likely benign159889162098891620Humanname
597925325CV3859359single nucleotide variantNM_000875.5(IGF1R):c.771C>T (p.Ala257=)not provided [RCV005200015]likely benign159889145598891455Humanname
598124811CV3885409single nucleotide variantNM_000875.5(IGF1R):c.798C>T (p.Pro266=)not specified [RCV005239986]likely benign159889148298891482Humanname
616935095CV4009299single nucleotide variantNM_000875.5(IGF1R):c.32C>T (p.Thr11Ile)not provided [RCV005402471]uncertain significance159864961398649613Humanname
15014845CV623655single nucleotide variantNM_000875.5(IGF1R):c.384T>C (p.Ile128=)Growth delay due to insulin-like growth factor I resistance [RCV000852352]pathogenic159870785198707851Human1name
15191332CV726371single nucleotide variantNM_000875.5(IGF1R):c.723G>A (p.Ala241=)not provided [RCV000888349]likely benign159889140798891407Humanname
15177852CV739899single nucleotide variantNM_000875.5(IGF1R):c.873C>T (p.Ser291=)not provided [RCV000906744]|not specified [RCV005056671]likely benign159889155798891557Humanname
15143448CV754814single nucleotide variantNM_000875.5(IGF1R):c.549A>G (p.Pro183=)not provided [RCV000922193]likely benign159870801698708016Humanname
15194128CV754815single nucleotide variantNM_000875.5(IGF1R):c.654G>A (p.Thr218=)not provided [RCV000911036]likely benign159889133898891338Humanname
15103287CV770458single nucleotide variantNM_000875.5(IGF1R):c.687G>A (p.Glu229=)not provided [RCV000937167]likely benign159889137198891371Humanname
28875378CV874339single nucleotide variantNM_000875.5(IGF1R):c.537G>A (p.Gly179=)Growth delay due to insulin-like growth factor I resistance [RCV001115876]|not provided [RCV003736983]likely benign|conflicting interpretations of pathogenicity|uncertain significance159870800498708004Human1name
38464878CV961656single nucleotide variantNM_000875.5(IGF1R):c.71C>T (p.Ser24Leu)Growth delay due to insulin-like growth factor I resistance [RCV001249834]|not provided [RCV003669214]uncertain significance159864965298649652Human1name
38598387CV964437single nucleotide variantNM_000875.5(IGF1R):c.43G>A (p.Gly15Arg)Growth delay due to insulin-like growth factor I resistance [RCV001253565]uncertain significance159864962498649624Human1name
126725431CV1018013single nucleotide variantNM_000875.5(IGF1R):c.127T>C (p.Tyr43His)Growth delay due to insulin-like growth factor I resistance [RCV001331395]uncertain significance159870759498707594Humanname
126725440CV1018014single nucleotide variantNM_000875.5(IGF1R):c.236C>T (p.Thr79Met)Growth delay due to insulin-like growth factor I resistance [RCV001331399]|not provided [RCV005428175]uncertain significance159870770398707703Human1name
151860524CV1400186single nucleotide variantNM_000875.5(IGF1R):c.2934G>A (p.Pro978=)not provided [RCV001980063]likely benign|uncertain significance159893028398930283Humanname
152121340CV1521431single nucleotide variantNM_000875.5(IGF1R):c.1143C>T (p.Ile381=)not provided [RCV002135746]likely benign159889951798899517Humanname
152049296CV1585523single nucleotide variantNM_000875.5(IGF1R):c.1212C>T (p.Asn404=)not provided [RCV002145476]likely benign159889958698899586Humanname
152030927CV1593302single nucleotide variantNM_000875.5(IGF1R):c.2814C>T (p.Ile938=)not provided [RCV002106042]likely benign159892958998929589Humanname
153302203CV1688110single nucleotide variantNM_000875.5(IGF1R):c.190A>G (p.Ile64Val)not provided [RCV002265336]uncertain significance159870765798707657Humanname
155731781CV1780998single nucleotide variantNM_000875.5(IGF1R):c.208T>G (p.Tyr70Asp)not provided [RCV002308786]uncertain significance159870767598707675Humanname
156384718CV1874756single nucleotide variantNM_000875.5(IGF1R):c.2022C>T (p.Ala674=)not provided [RCV003050768]likely benign159891669798916697Humanname
155945555CV1875433single nucleotide variantNM_000875.5(IGF1R):c.2895C>T (p.Ser965=)not provided [RCV003073823]likely benign159893024498930244Humanname
156403604CV1885845single nucleotide variantNM_000875.5(IGF1R):c.1155G>A (p.Thr385=)not provided [RCV003069509]likely benign159889952998899529Humanname
156403642CV1886338single nucleotide variantNM_000875.5(IGF1R):c.2424C>T (p.His808=)not provided [RCV003069518]likely benign159892237098922370Humanname
10049673CV190772single nucleotide variantNM_000875.5(IGF1R):c.2121C>T (p.Ala707=)not provided [RCV000173715]|not specified [RCV004782281]likely benign|conflicting interpretations of pathogenicity|uncertain significance159891679698916796Humanname
10047702CV190981single nucleotide variantNM_000875.5(IGF1R):c.2298C>T (p.Thr766=)Growth delay due to insulin-like growth factor I resistance [RCV000266494]|not provided [RCV001723746]|not specified [RCV000174019]benign159892224498922244Human1name
156015648CV1912771single nucleotide variantNM_000875.5(IGF1R):c.1863G>A (p.Ser621=)not provided [RCV002619129]likely benign159891599898915998Humanname
10047822CV191348single nucleotide variantNM_000875.5(IGF1R):c.2700C>T (p.Asn900=)Growth delay due to insulin-like growth factor I resistance [RCV000376170]|not provided [RCV000973103]|not specified [RCV000174496]benign|likely benign159892460298924602Human1name
156375688CV1917558single nucleotide variantNM_000875.5(IGF1R):c.2709C>T (p.Ala903=)not provided [RCV002603558]likely benign159892461198924611Humanname
155952063CV1922021single nucleotide variantNM_000875.5(IGF1R):c.2697G>C (p.Gly899=)not provided [RCV002616278]likely benign159892459998924599Humanname
156447299CV1944942single nucleotide variantNM_000875.5(IGF1R):c.1659C>T (p.Asp553=)not provided [RCV003118826]likely benign159891311398913113Humanname
156249391CV1953733single nucleotide variantNM_000875.5(IGF1R):c.2493A>G (p.Ala831=)not provided [RCV002576490]likely benign159892388398923883Humanname
10049234CV196202single nucleotide variantNM_000875.5(IGF1R):c.1914C>T (p.Asn638=)Growth delay due to insulin-like growth factor I resistance [RCV001115986]|not provided [RCV000948430]|not specified [RCV000180532]benign159891604998916049Human1name
156217039CV1963370single nucleotide variantNM_000875.5(IGF1R):c.1728G>A (p.Gln576=)not provided [RCV002575371]likely benign159891318298913182Humanname
156415983CV1966375single nucleotide variantNM_000875.5(IGF1R):c.2481C>T (p.Pro827=)not provided [RCV002589464]likely benign159892242798922427Humanname
156416020CV1983888single nucleotide variantNM_000875.5(IGF1R):c.1965C>T (p.Gly655=)not provided [RCV002609954]likely benign159891610098916100Humanname
156392705CV1986438single nucleotide variantNM_000875.5(IGF1R):c.2211G>A (p.Arg737=)not provided [RCV002604817]likely benign159892215798922157Humanname
156415392CV1991011single nucleotide variantNM_000875.5(IGF1R):c.1185C>T (p.Ala395=)not provided [RCV002609645]likely benign159889955998899559Humanname
156235793CV1999578single nucleotide variantNM_000875.5(IGF1R):c.2448C>T (p.Ser816=)not provided [RCV002667751]likely benign159892239498922394Humanname
156318875CV2014326single nucleotide variantNM_000875.5(IGF1R):c.212G>A (p.Arg71His)not provided [RCV002672062]uncertain significance159870767998707679Humanname
156176901CV2023117single nucleotide variantNM_000875.5(IGF1R):c.2806C>T (p.Leu936=)not provided [RCV002765491]likely benign159892958198929581Humanname
156204112CV2034869single nucleotide variantNM_000875.5(IGF1R):c.1551C>T (p.Tyr517=)not provided [RCV002766350]likely benign159891140398911403Humanname
156212274CV2036979single nucleotide variantNM_000875.5(IGF1R):c.1929C>T (p.Tyr643=)not provided [RCV002790289]likely benign159891606498916064Humanname
156208415CV2042407single nucleotide variantNM_000875.5(IGF1R):c.2559G>A (p.Pro853=)not provided [RCV002766505]likely benign159892394998923949Humanname
155907763CV2044426single nucleotide variantNM_000875.5(IGF1R):c.1902C>T (p.Pro634=)not provided [RCV002771360]likely benign159891603798916037Humanname
156312433CV2063508single nucleotide variantNM_000875.5(IGF1R):c.1281C>T (p.Asn427=)not provided [RCV002834201]likely benign159890871898908718Humanname
155946966CV2068866single nucleotide variantNM_000875.5(IGF1R):c.2670G>A (p.Gly890=)not provided [RCV002862128]likely benign159892457298924572Humanname
156234540CV2072296single nucleotide variantNM_000875.5(IGF1R):c.2412C>T (p.His804=)not provided [RCV002830177]likely benign159892235898922358Humanname
156009005CV2075382single nucleotide variantNM_000875.5(IGF1R):c.1791C>T (p.Ala597=)not provided [RCV002843768]likely benign159891324598913245Humanname
156119357CV2083012single nucleotide variantNM_000875.5(IGF1R):c.1227A>G (p.Leu409=)not provided [RCV002871200]likely benign159889960198899601Humanname
155981986CV2090590single nucleotide variantNM_000875.5(IGF1R):c.2802C>A (p.Ile934=)not provided [RCV002881979]likely benign159892957798929577Humanname
155997823CV2106575single nucleotide variantNM_000875.5(IGF1R):c.1215T>G (p.Leu405=)not provided [RCV002947642]likely benign159889958998899589Humanname
156361025CV2126462single nucleotide variantNM_000875.5(IGF1R):c.296T>A (p.Leu99His)not provided [RCV002966983]uncertain significance159870776398707763Humanname
155907558CV2130889single nucleotide variantNM_000875.5(IGF1R):c.1731C>T (p.Tyr577=)not provided [RCV002967806]likely benign159891318598913185Humanname
156112625CV2154269single nucleotide variantNM_000875.5(IGF1R):c.1804T>C (p.Leu602=)not provided [RCV003021477]likely benign159891325898913258Humanname
156306419CV2157437single nucleotide variantNM_000875.5(IGF1R):c.2982G>T (p.Val994=)not provided [RCV003028343]likely benign159893484998934849Humanname
156323476CV2173676single nucleotide variantNM_000875.5(IGF1R):c.1716G>A (p.Lys572=)not provided [RCV003046774]likely benign159891317098913170Humanname
156279862CV2186779single nucleotide variantNM_000875.5(IGF1R):c.289G>A (p.Gly97Arg)not provided [RCV003044744]uncertain significance159870775698707756Humanname
156269016CV2189407single nucleotide variantNM_000875.5(IGF1R):c.2259A>T (p.Arg753=)not provided [RCV003044386]likely benign159892220598922205Humanname
156154932CV2190775single nucleotide variantNM_000875.5(IGF1R):c.1533G>A (p.Arg511=)not provided [RCV003040498]likely benign159891138598911385Humanname
11580188CV266452single nucleotide variantNM_000875.5(IGF1R):c.1950G>T (p.Arg650=)Growth delay due to insulin-like growth factor I resistance [RCV000325797]|not provided [RCV000959148]|not specified [RCV000374362]benign|likely benign|uncertain significance159891608598916085Human1name
11636466CV270525single nucleotide variantNM_000875.5(IGF1R):c.1485C>T (p.Phe495=)not provided [RCV000268164]conflicting interpretations of pathogenicity|uncertain significance159891133798911337Humanname
401830655CV2748279single nucleotide variantNM_000875.5(IGF1R):c.280G>A (p.Glu94Lys)not provided [RCV003329888]uncertain significance159870774798707747Humanname
401875175CV2749879single nucleotide variantNM_000875.5(IGF1R):c.119G>A (p.Arg40His)Growth delay due to insulin-like growth factor I resistance [RCV003333272]uncertain significance159870758698707586Human1name
401943635CV2840118single nucleotide variantNM_000875.5(IGF1R):c.2403C>T (p.Ile801=)not provided [RCV003456904]likely benign159892234998922349Humanname
405090919CV2859323single nucleotide variantNM_000875.5(IGF1R):c.100G>C (p.Gly34Arg)not provided [RCV003549840]uncertain significance159870756798707567Humanname
405074068CV2873101single nucleotide variantNM_000875.5(IGF1R):c.1401G>C (p.Gly467=)not provided [RCV003548707]likely benign159890883898908838Humanname
405049271CV2886947single nucleotide variantNM_000875.5(IGF1R):c.1848C>T (p.Asp616=)not provided [RCV003579672]uncertain significance159891598398915983Humanname
405223491CV2887518single nucleotide variantNM_000875.5(IGF1R):c.1962C>T (p.Asp654=)not provided [RCV003554280]likely benign159891609798916097Humanname
402473335CV2908909single nucleotide variantNM_000875.5(IGF1R):c.1683C>T (p.Asp561=)not provided [RCV003570971]benign159891313798913137Humanname
405203378CV2915215single nucleotide variantNM_000875.5(IGF1R):c.2523G>A (p.Glu841=)not provided [RCV003566190]likely benign159892391398923913Humanname
402474726CV2915922single nucleotide variantNM_000875.5(IGF1R):c.2913G>A (p.Val971=)not provided [RCV003571229]likely benign159893026298930262Humanname
402500300CV2923057single nucleotide variantNM_000875.5(IGF1R):c.2703C>T (p.Tyr901=)not provided [RCV003573920]likely benign159892460598924605Humanname
405121072CV2952292single nucleotide variantNM_000875.5(IGF1R):c.2445C>T (p.Cys815=)not provided [RCV003671402]likely benign159892239198922391Humanname
405227408CV2963377single nucleotide variantNM_000875.5(IGF1R):c.2763C>T (p.Phe921=)not provided [RCV003681570]likely benign159892466598924665Humanname
405231075CV2964434single nucleotide variantNM_000875.5(IGF1R):c.1695C>G (p.Gly565=)not provided [RCV003682202]likely benign159891314998913149Humanname
405246495CV2970146single nucleotide variantNM_000875.5(IGF1R):c.245C>T (p.Thr82Ile)not provided [RCV003685438]uncertain significance159870771298707712Humanname
405239708CV2979969single nucleotide variantNM_000875.5(IGF1R):c.2352C>T (p.Asn784=)not provided [RCV003683788]likely benign159892229898922298Humanname
8564455CV29831single nucleotide variantNM_000875.5(IGF1R):c.265C>T (p.Arg89Ter)Growth delay due to insulin-like growth factor I resistance [RCV000015915]pathogenic|protective159870773298707732Human1name
402512971CV2991355single nucleotide variantNM_000875.5(IGF1R):c.2745G>T (p.Ser915=)not provided [RCV003689704]likely benign159892464798924647Humanname
402521204CV3002439single nucleotide variantNM_000875.5(IGF1R):c.148G>T (p.Glu50Ter)not provided [RCV003690202]pathogenic159870761598707615Humanname
402503943CV3041838single nucleotide variantNM_000875.5(IGF1R):c.1857A>G (p.Ser619=)not provided [RCV003715022]likely benign159891599298915992Humanname
405253674CV3044905single nucleotide variantNM_000875.5(IGF1R):c.1083C>G (p.Leu361=)not provided [RCV003722640]likely benign159889688698896886Humanname
405129817CV3054562single nucleotide variantNM_000875.5(IGF1R):c.1225C>T (p.Leu409=)not provided [RCV003724725]likely benign159889959998899599Humanname
405206795CV3064412single nucleotide variantNM_000875.5(IGF1R):c.2613A>T (p.Ser871=)not provided [RCV003731413]likely benign159892400398924003Humanname
405086897CV3122123single nucleotide variantNM_000875.5(IGF1R):c.2391A>G (p.Thr797=)not provided [RCV003810878]likely benign159892233798922337Humanname
405172337CV3122826single nucleotide variantNM_000875.5(IGF1R):c.1290A>G (p.Gln430=)not provided [RCV003819224]likely benign159890872798908727Humanname
405112781CV3133651single nucleotide variantNM_000875.5(IGF1R):c.1266C>A (p.Val422=)not provided [RCV003836444]likely benign159890870398908703Humanname
405088734CV3138142single nucleotide variantNM_000875.5(IGF1R):c.1269C>T (p.Leu423=)not provided [RCV003834660]likely benign159890870698908706Humanname
405071009CV3145336single nucleotide variantNM_000875.5(IGF1R):c.1921C>T (p.Leu641=)not provided [RCV003850921]likely benign159891605698916056Humanname
405173888CV3151928single nucleotide variantNM_000875.5(IGF1R):c.1734C>T (p.Ala578=)not provided [RCV003858079]likely benign159891318898913188Humanname
405045999CV3154532single nucleotide variantNM_000875.5(IGF1R):c.1329A>T (p.Ala443=)not provided [RCV003849208]likely benign159890876698908766Humanname
405143719CV3155723single nucleotide variantNM_000875.5(IGF1R):c.2392T>C (p.Leu798=)not provided [RCV003855765]likely benign159892233898922338Humanname
405215397CV3160701single nucleotide variantNM_000875.5(IGF1R):c.2844G>C (p.Val948=)not provided [RCV003862763]likely benign159892961998929619Humanname
405253437CV3174455single nucleotide variantNM_000875.5(IGF1R):c.2961C>T (p.Tyr987=)not provided [RCV003871084]likely benign159893482898934828Humanname
11605280CV323620single nucleotide variantNM_000875.5(IGF1R):c.2868C>T (p.Tyr956=)Growth delay due to insulin-like growth factor I resistance [RCV000317954]|not provided [RCV003765844]likely benign|uncertain significance159892964398929643Human1name
11615237CV340127single nucleotide variantNM_000875.5(IGF1R):c.2745G>A (p.Ser915=)Growth delay due to insulin-like growth factor I resistance [RCV000284023]|not provided [RCV000735046]conflicting interpretations of pathogenicity|uncertain significance159892464798924647Human1name
407427249CV3411827single nucleotide variantNM_000875.5(IGF1R):c.166G>A (p.Glu56Lys)not provided [RCV004591998]uncertain significance159870763398707633Humanname
407503640CV3495837single nucleotide variantNM_000875.5(IGF1R):c.247G>A (p.Glu83Lys)not provided [RCV004697677]uncertain significance159870771498707714Humanname
408378223CV3500926single nucleotide variantNM_000875.5(IGF1R):c.1632C>T (p.Cys544=)not provided [RCV004722576]likely benign159891308698913086Humanname
408394457CV3518273single nucleotide variantNM_000875.5(IGF1R):c.100G>A (p.Gly34Arg)Growth delay due to insulin-like growth factor I resistance [RCV004759596]|not provided [RCV005104907]uncertain significance159870756798707567Human1name
596931446CV3531782single nucleotide variantNM_000875.5(IGF1R):c.202G>A (p.Glu68Lys)not provided [RCV004781344]uncertain significance159870766998707669Humanname
597654417CV3551631duplicationNM_000875.5(IGF1R):c.699dup (p.Glu234fs)Growth delay due to insulin-like growth factor I resistance [RCV004820344]likely pathogenic159889137998891380Human1name
597929296CV3749238single nucleotide variantNM_000875.5(IGF1R):c.2574C>G (p.Pro858=)not provided [RCV005075694]likely benign159892396498923964Humanname
597961597CV3753282single nucleotide variantNM_000875.5(IGF1R):c.1500G>T (p.Thr500=)not provided [RCV005081782]likely benign159891135298911352Humanname
597956169CV3754550single nucleotide variantNM_000875.5(IGF1R):c.1206A>C (p.Leu402=)not provided [RCV005080400]likely benign159889958098899580Humanname
597864857CV3791442single nucleotide variantNM_000875.5(IGF1R):c.1989C>T (p.Cys663=)not provided [RCV005139196]likely benign159891612498916124Humanname
597880406CV3811644single nucleotide variantNM_000875.5(IGF1R):c.1398G>A (p.Thr466=)not provided [RCV005155475]likely benign159890883598908835Humanname
597886739CV3815930single nucleotide variantNM_000875.5(IGF1R):c.2898G>A (p.Arg966=)not provided [RCV005161682]likely benign159893024798930247Humanname
597884314CV3819391single nucleotide variantNM_000875.5(IGF1R):c.1335A>G (p.Lys445=)not provided [RCV005159201]likely benign159890877298908772Humanname
597899157CV3825101single nucleotide variantNM_000875.5(IGF1R):c.221G>A (p.Arg74His)not provided [RCV005173949]uncertain significance159870768898707688Humanname
597894606CV3832811single nucleotide variantNM_000875.5(IGF1R):c.1266C>T (p.Val422=)not provided [RCV005169370]likely benign159890870398908703Humanname
597918871CV3837841single nucleotide variantNM_000875.5(IGF1R):c.1477C>T (p.Leu493=)not provided [RCV005193825]likely benign159891132998911329Humanname
597905421CV3840185single nucleotide variantNM_000875.5(IGF1R):c.2232A>G (p.Gln744=)not provided [RCV005179884]likely benign159892217898922178Humanname
597913526CV3847920single nucleotide variantNM_000875.5(IGF1R):c.2607C>T (p.Tyr869=)not provided [RCV005188650]likely benign159892399798923997Humanname
598235782CV3893527single nucleotide variantNM_000875.5(IGF1R):c.251A>G (p.Tyr84Cys)not provided [RCV005256260]uncertain significance159870771898707718Humanname
12893248CV409435deletionNM_000875.5(IGF1R):c.323del (p.Gly108fs)not provided [RCV000478317]likely pathogenic159870778998707789Humanname
13471011CV440332single nucleotide variantNM_000875.5(IGF1R):c.119G>T (p.Arg40Leu)Growth delay due to insulin-like growth factor I resistance [RCV000516171]protective159870758698707586Human1name
13523847CV489116single nucleotide variantNM_000875.5(IGF1R):c.1692C>T (p.Pro564=)not provided [RCV000593509]conflicting interpretations of pathogenicity|uncertain significance159891314698913146Humanname
13522663CV489419single nucleotide variantNM_000875.5(IGF1R):c.2784A>G (p.Thr928=)not provided [RCV000592017]uncertain significance159892955998929559Humanname
13833662CV584899duplicationNM_000875.5(IGF1R):c.418dup (p.Ala140fs)not provided [RCV000728990]pathogenic159870787998707880Humanname
13837380CV588669single nucleotide variantNM_000875.5(IGF1R):c.1680G>A (p.Lys560=)not provided [RCV000733783]conflicting interpretations of pathogenicity|uncertain significance159891313498913134Humanname
15014844CV623654single nucleotide variantNM_000875.5(IGF1R):c.118C>T (p.Arg40Cys)Growth delay due to insulin-like growth factor I resistance [RCV000852351]likely pathogenic159870758598707585Human1name
15150158CV726374single nucleotide variantNM_000875.5(IGF1R):c.1194C>T (p.Ser398=)Growth delay due to insulin-like growth factor I resistance [RCV001118942]|not provided [RCV000879318]benign|likely benign|uncertain significance159889956898899568Human1name
15181639CV726375single nucleotide variantNM_000875.5(IGF1R):c.1452G>A (p.Glu484=)not provided [RCV000885810]likely benign159890888998908889Humanname
15152497CV739900single nucleotide variantNM_000875.5(IGF1R):c.1164G>A (p.Val388=)not provided [RCV000901578]likely benign159889953898899538Humanname
15124013CV739901single nucleotide variantNM_000875.5(IGF1R):c.1638C>T (p.Ser546=)not provided [RCV000896512]likely benign159891309298913092Humanname
15157568CV739902single nucleotide variantNM_000875.5(IGF1R):c.1773C>T (p.Asn591=)not provided [RCV000902555]benign159891322798913227Humanname
15164028CV739903single nucleotide variantNM_000875.5(IGF1R):c.1965C>A (p.Gly655=)not provided [RCV000903909]likely benign159891610098916100Humanname
15138662CV754816single nucleotide variantNM_000875.5(IGF1R):c.1035T>G (p.Thr345=)not provided [RCV000921374]benign159889683898896838Humanname
15155343CV754817single nucleotide variantNM_000875.5(IGF1R):c.1401G>A (p.Gly467=)Growth delay due to insulin-like growth factor I resistance [RCV003130091]|not provided [RCV000924445]likely benign|uncertain significance159890883898908838Human1name
15135768CV754818single nucleotide variantNM_000875.5(IGF1R):c.2274G>A (p.Thr758=)not provided [RCV000920904]benign159892222098922220Humanname
15170011CV754820single nucleotide variantNM_000875.5(IGF1R):c.2730C>T (p.Leu910=)Growth delay due to insulin-like growth factor I resistance [RCV001334594]|not provided [RCV000927614]likely benign|uncertain significance159892463298924632Human1name
15104603CV754821single nucleotide variantNM_000875.5(IGF1R):c.2823C>T (p.Pro941=)not provided [RCV000915382]likely benign159892959898929598Humanname
15142640CV770459single nucleotide variantNM_000875.5(IGF1R):c.1371C>T (p.Ser457=)not provided [RCV000944110]likely benign159890880898908808Humanname
15101235CV770460single nucleotide variantNM_000875.5(IGF1R):c.2769T>C (p.Tyr923=)not provided [RCV000936763]likely benign159892467198924671Humanname
15100560CV785080single nucleotide variantNM_000875.5(IGF1R):c.1503G>A (p.Ser501=)Growth delay due to insulin-like growth factor I resistance [RCV001120907]|not provided [RCV000975430]likely benign|uncertain significance159891135598911355Human1name
15131546CV785081single nucleotide variantNM_000875.5(IGF1R):c.1866C>T (p.Asn622=)not provided [RCV000981231]likely benign159891600198916001Humanname
15103434CV785082single nucleotide variantNM_000875.5(IGF1R):c.2133C>T (p.Ala711=)not provided [RCV000976017]likely benign159891680898916808Humanname
28885110CV874341single nucleotide variantNM_000875.5(IGF1R):c.1161C>T (p.Tyr387=)Growth delay due to insulin-like growth factor I resistance [RCV001118941]|not provided [RCV003769171]likely benign|uncertain significance159889953598899535Human1name
28891247CV874343single nucleotide variantNM_000875.5(IGF1R):c.1671G>A (p.Pro557=)Growth delay due to insulin-like growth factor I resistance [RCV001120909]|not provided [RCV003736986]likely benign|uncertain significance159891312598913125Human1name
28880190CV874347single nucleotide variantNM_000875.5(IGF1R):c.2460C>T (p.Phe820=)Growth delay due to insulin-like growth factor I resistance [RCV001117443]|not provided [RCV003769160]likely benign|uncertain significance159892240698922406Human1name
329401349CV2442180single nucleotide variantNM_000875.5(IGF1R):c.800A>G (p.Asn267Ser)Inborn genetic diseases [RCV003198230]uncertain significance159889148498891484Human1name
329389193CV2448604single nucleotide variantNM_000875.5(IGF1R):c.736A>G (p.Thr246Ala)Inborn genetic diseases [RCV003190919]|not provided [RCV003779645]uncertain significance159889142098891420Human1name
401723001CV2672062single nucleotide variantNM_000875.5(IGF1R):c.818G>T (p.Gly273Val)not provided [RCV003238963]uncertain significance159889150298891502Humanname
401919208CV2794796single nucleotide variantNM_000875.5(IGF1R):c.836G>A (p.Arg279His)not provided [RCV005104277]|not specified [RCV003388471]uncertain significance159889152098891520Humanname
401930111CV2814514single nucleotide variantNM_000875.5(IGF1R):c.761A>T (p.Tyr254Phe)not provided [RCV003390561]uncertain significance159889144598891445Humanname
401904528CV2814516single nucleotide variantNM_000875.5(IGF1R):c.3348C>T (p.Ala1116=)not provided [RCV003395056]likely benign159893925198939251Humanname
401904530CV2814518single nucleotide variantNM_000875.5(IGF1R):c.3924G>A (p.Ser1308=)not provided [RCV003395058]likely benign159895726298957262Humanname
401940270CV2832556single nucleotide variantNM_000875.5(IGF1R):c.575G>A (p.Cys192Tyr)Growth delay due to insulin-like growth factor I resistance [RCV003448536]uncertain significance159870804298708042Human1name
402495515CV2850281single nucleotide variantNM_000875.5(IGF1R):c.628C>T (p.Arg210Cys)Growth delay due to insulin-like growth factor I resistance [RCV003486116]|not provided [RCV003661067]uncertain significance159870809598708095Human1name
405094347CV2874700single nucleotide variantNM_000875.5(IGF1R):c.526A>G (p.Lys176Glu)not provided [RCV003550135]uncertain significance159870799398707993Humanname
402496623CV2875377single nucleotide variantNM_000875.5(IGF1R):c.991G>A (p.Val331Ile)not provided [RCV003545484]uncertain significance159889679498896794Humanname
405166384CV2905881single nucleotide variantNM_000875.5(IGF1R):c.607T>C (p.Tyr203His)not provided [RCV003562700]uncertain significance159870807498708074Humanname
402472172CV2912181single nucleotide variantNM_000875.5(IGF1R):c.515A>G (p.Asn172Ser)not provided [RCV003570733]uncertain significance159870798298707982Humanname
405101534CV2948252single nucleotide variantNM_000875.5(IGF1R):c.370A>C (p.Asn124His)not provided [RCV003666187]uncertain significance159870783798707837Humanname
405161464CV2950375single nucleotide variantNM_000875.5(IGF1R):c.728A>G (p.Asp243Gly)not provided [RCV003674713]uncertain significance159889141298891412Humanname
405181821CV2952580single nucleotide variantNM_000875.5(IGF1R):c.3936C>G (p.Ser1312=)not provided [RCV003676349]likely benign159895727498957274Humanname
8564453CV29829single nucleotide variantNM_000875.5(IGF1R):c.413G>A (p.Arg138Gln)Growth delay due to insulin-like growth factor I resistance [RCV000015913]pathogenic|protective159870788098707880Human1name
8564454CV29830single nucleotide variantNM_000875.5(IGF1R):c.435A>C (p.Lys145Asn)Growth delay due to insulin-like growth factor I resistance [RCV000015914]pathogenic|protective159870790298707902Human1name
402490079CV2984622single nucleotide variantNM_000875.5(IGF1R):c.3270T>C (p.Tyr1090=)not provided [RCV003713692]likely benign159893539998935399Humanname
402498722CV3015964single nucleotide variantNM_000875.5(IGF1R):c.3153T>C (p.Ala1051=)not provided [RCV003688271]likely benign159893502098935020Humanname
402484074CV3036772single nucleotide variantNM_000875.5(IGF1R):c.320G>A (p.Arg107His)not provided [RCV003713131]uncertain significance159870778798707787Humanname
402480729CV3041497single nucleotide variantNM_000875.5(IGF1R):c.3657G>A (p.Glu1219=)not provided [RCV003712816]likely benign159894864398948643Humanname
405141843CV3046058single nucleotide variantNM_000875.5(IGF1R):c.943G>A (p.Gly315Ser)not provided [RCV003725661]uncertain significance159889162798891627Humanname
405241534CV3070263single nucleotide variantNM_000875.5(IGF1R):c.4023C>T (p.Asp1341=)not provided [RCV003737376]likely benign159895736198957361Humanname
405095344CV3119044single nucleotide variantNM_000875.5(IGF1R):c.772G>A (p.Gly258Ser)not provided [RCV003811495]|not specified [RCV005240941]likely benign|uncertain significance159889145698891456Humanname
405162904CV3125216single nucleotide variantNM_000875.5(IGF1R):c.784C>T (p.Pro262Ser)not provided [RCV003818488]uncertain significance159889146898891468Humanname
404978297CV3127317single nucleotide variantNM_000875.5(IGF1R):c.3363C>T (p.Asp1121=)not provided [RCV003825541]likely benign159893926698939266Humanname
405059213CV3129394single nucleotide variantNM_000875.5(IGF1R):c.986C>T (p.Pro329Leu)not provided [RCV003832663]uncertain significance159889678998896789Humanname
405155125CV3135229single nucleotide variantNM_000875.5(IGF1R):c.404A>G (p.Asn135Ser)not provided [RCV003840341]uncertain significance159870787198707871Humanname
405210864CV3146262single nucleotide variantNM_000875.5(IGF1R):c.382A>G (p.Ile128Val)not provided [RCV003845793]uncertain significance159870784998707849Humanname
405190730CV3149681single nucleotide variantNM_000875.5(IGF1R):c.3933G>A (p.Ser1311=)not provided [RCV003843407]likely benign159895727198957271Humanname
405052049CV3150962single nucleotide variantNM_000875.5(IGF1R):c.3241C>T (p.Leu1081=)not provided [RCV003849566]likely benign159893537098935370Humanname
405247344CV3158764single nucleotide variantNM_000875.5(IGF1R):c.3684C>T (p.Gly1228=)not provided [RCV003869106]likely benign159894867098948670Humanname
405161125CV3160000single nucleotide variantNM_000875.5(IGF1R):c.3033G>T (p.Gly1011=)not provided [RCV003857071]likely benign159893490098934900Humanname
405235490CV3166294single nucleotide variantNM_000875.5(IGF1R):c.629G>A (p.Arg210His)not provided [RCV003853743]uncertain significance159870809698708096Humanname
404990760CV3176247single nucleotide variantNM_000875.5(IGF1R):c.3702A>G (p.Pro1234=)not provided [RCV003881572]likely benign159894868898948688Humanname
404979985CV3183290single nucleotide variantNM_000875.5(IGF1R):c.3777C>T (p.Phe1259=)not provided [RCV003880313]likely benign159895711598957115Humanname
405004102CV3184536single nucleotide variantNM_000875.5(IGF1R):c.926C>T (p.Ser309Leu)Growth delay due to insulin-like growth factor I resistance [RCV003883325]uncertain significance159889161098891610Human1name
405701528CV3225998single nucleotide variantNM_000875.5(IGF1R):c.822G>A (p.Trp274Ter)Growth delay due to insulin-like growth factor I resistance [RCV003989440]pathogenic159889150698891506Human1name
405691483CV3227481single nucleotide variantNM_000875.5(IGF1R):c.803C>A (p.Thr268Asn)Growth delay due to insulin-like growth factor I resistance [RCV003991826]uncertain significance159889148798891487Human1name
405854042CV3395507single nucleotide variantNM_000875.5(IGF1R):c.302C>G (p.Pro101Arg)Growth delay due to insulin-like growth factor I resistance [RCV004555762]uncertain significance159870776998707769Human1name
405855021CV3395547single nucleotide variantNM_000875.5(IGF1R):c.419C>A (p.Ala140Asp)Growth delay due to insulin-like growth factor I resistance [RCV004555795]uncertain significance159870788698707886Human1name
407490800CV3416869single nucleotide variantNM_000875.5(IGF1R):c.341A>G (p.Asn114Ser)Growth delay due to insulin-like growth factor I resistance [RCV004666697]uncertain significance159870780898707808Human1name
407503657CV3495839single nucleotide variantNM_000875.5(IGF1R):c.823C>T (p.Arg275Cys)not provided [RCV004697679]uncertain significance159889150798891507Humanname
408365390CV3499863single nucleotide variantNM_000875.5(IGF1R):c.346G>A (p.Ala116Thr)not provided [RCV004721905]likely pathogenic159870781398707813Humanname
408365301CV3501521single nucleotide variantNM_000875.5(IGF1R):c.986C>G (p.Pro329Arg)Growth delay due to insulin-like growth factor I resistance [RCV004720730]uncertain significance159889678998896789Human1name
408387236CV3518765single nucleotide variantNM_000875.5(IGF1R):c.385G>A (p.Gly129Arg)not provided [RCV004761084]uncertain significance159870785298707852Humanname
408381411CV3523858single nucleotide variantNM_000875.5(IGF1R):c.668C>A (p.Ala223Glu)not provided [RCV004766256]uncertain significance159889135298891352Humanname
408388382CV3527479single nucleotide variantNM_000875.5(IGF1R):c.957G>A (p.Met319Ile)not provided [RCV004773783]uncertain significance159889676098896760Humanname
596923427CV3530412single nucleotide variantNM_000875.5(IGF1R):c.829G>A (p.Val277Met)not provided [RCV004777011]uncertain significance159889151398891513Humanname
596926015CV3530665single nucleotide variantNM_000875.5(IGF1R):c.921C>A (p.Cys307Ter)not provided [RCV004778250]pathogenic159889160598891605Humanname
596929956CV3531262single nucleotide variantNM_000875.5(IGF1R):c.959A>G (p.Tyr320Cys)not provided [RCV004779836]uncertain significance159889676298896762Humanname
596920554CV3534027single nucleotide variantNM_000875.5(IGF1R):c.3987C>T (p.Pro1329=)not specified [RCV004783245]likely benign159895732598957325Humanname
597868055CV3742853single nucleotide variantNM_000875.5(IGF1R):c.676G>A (p.Glu226Lys)not provided [RCV005068276]uncertain significance159889136098891360Humanname
597830225CV3746645single nucleotide variantNM_000875.5(IGF1R):c.3447C>G (p.Val1149=)not provided [RCV005061931]likely benign159893935098939350Humanname
597934181CV3750411single nucleotide variantNM_000875.5(IGF1R):c.856C>G (p.Leu286Val)not provided [RCV005076336]uncertain significance159889154098891540Humanname
597966078CV3751493single nucleotide variantNM_000875.5(IGF1R):c.809G>C (p.Arg270Thr)not provided [RCV005082862]uncertain significance159889149398891493Humanname
597839434CV3758312single nucleotide variantNM_000875.5(IGF1R):c.800A>C (p.Asn267Thr)not provided [RCV005086147]uncertain significance159889148498891484Humanname
597855604CV3781236single nucleotide variantNM_000875.5(IGF1R):c.412C>T (p.Arg138Trp)not provided [RCV005130118]uncertain significance159870787998707879Humanname
597887366CV3818089single nucleotide variantNM_000875.5(IGF1R):c.883G>A (p.Gly295Arg)not provided [RCV005162540]uncertain significance159889156798891567Humanname
597894895CV3829237single nucleotide variantNM_000875.5(IGF1R):c.3792C>T (p.Ser1264=)not provided [RCV005169686]likely benign159895713098957130Humanname
597902824CV3829672single nucleotide variantNM_000875.5(IGF1R):c.3999G>A (p.Val1333=)not provided [RCV005177380]likely benign159895733798957337Humanname
597908422CV3834015single nucleotide variantNM_000875.5(IGF1R):c.3879G>A (p.Leu1293=)not provided [RCV005183374]likely benign159895721798957217Humanname
597912471CV3836595single nucleotide variantNM_000875.5(IGF1R):c.880G>A (p.Glu294Lys)not provided [RCV005187616]uncertain significance159889156498891564Humanname
597910590CV3837586single nucleotide variantNM_000875.5(IGF1R):c.992T>C (p.Val331Ala)not provided [RCV005185746]uncertain significance159889679598896795Humanname
597910640CV3837664single nucleotide variantNM_000875.5(IGF1R):c.3024G>T (p.Gly1008=)not provided [RCV005185824]likely benign159893489198934891Humanname
597918082CV3840763single nucleotide variantNM_000875.5(IGF1R):c.862G>A (p.Ala288Thr)not provided [RCV005193056]uncertain significance159889154698891546Humanname
597916402CV3844562single nucleotide variantNM_000875.5(IGF1R):c.3951C>T (p.Pro1317=)not provided [RCV005191236]likely benign159895728998957289Humanname
597910945CV3844647single nucleotide variantNM_000875.5(IGF1R):c.3381C>T (p.Asn1127=)not provided [RCV005186153]likely benign159893928498939284Humanname
597831619CV3863878single nucleotide variantNM_000875.5(IGF1R):c.919T>A (p.Cys307Ser)Growth delay due to insulin-like growth factor I resistance [RCV005208292]uncertain significance159889160398891603Human1name
598124581CV3883599single nucleotide variantNM_000875.5(IGF1R):c.731A>G (p.Asn244Ser)not provided [RCV005235953]uncertain significance159889141598891415Humanname
598123534CV3884797single nucleotide variantNM_000875.5(IGF1R):c.3507A>C (p.Gly1169=)not specified [RCV005238404]likely benign159894297298942972Humanname
598198527CV4007187single nucleotide variantNM_000875.5(IGF1R):c.337T>C (p.Tyr113His)Growth delay due to insulin-like growth factor I resistance [RCV005398019]uncertain significance159870780498707804Human1name
598199126CV4007269single nucleotide variantNM_000875.5(IGF1R):c.683A>G (p.Asn228Ser)Growth delay due to insulin-like growth factor I resistance [RCV005398097]uncertain significance159889136798891367Human1name
617151984CV4018224single nucleotide variantNM_000875.5(IGF1R):c.3627C>G (p.Ala1209=)not specified [RCV005418484]likely benign159894861398948613Humanname
28875375CV874338single nucleotide variantNM_000875.5(IGF1R):c.457T>A (p.Ser153Thr)Growth delay due to insulin-like growth factor I resistance [RCV001115875]uncertain significance159870792498707924Human1name
28879840CV874340single nucleotide variantNM_000875.5(IGF1R):c.605A>G (p.Asn202Ser)Growth delay due to insulin-like growth factor I resistance [RCV001117330]|not provided [RCV002556496]likely benign|conflicting interpretations of pathogenicity|uncertain significance159870807298708072Human1name
28891515CV874348single nucleotide variantNM_000875.5(IGF1R):c.3453C>T (p.Ile1151=)Growth delay due to insulin-like growth factor I resistance [RCV001121013]|not provided [RCV005093549]likely benign|uncertain significance159893935698939356Human1name
28875839CV874350single nucleotide variantNM_000875.5(IGF1R):c.3672C>T (p.Phe1224=)Growth delay due to insulin-like growth factor I resistance [RCV001116093]|not provided [RCV005093526]likely benign|uncertain significance159894865898948658Human1name
28875865CV874355single nucleotide variantNM_000875.5(IGF1R):c.3906C>T (p.Ser1302=)Growth delay due to insulin-like growth factor I resistance [RCV001116099]|not provided [RCV003769152]likely benign|uncertain significance159895724498957244Human1name
40814499CV969399single nucleotide variantNM_000875.5(IGF1R):c.302C>T (p.Pro101Leu)Intellectual disability [RCV001260738]uncertain significance159870776998707769Human2name