| 28872728 | CV869135 | single nucleotide variant | NM_000618.5(IGF1):c.*23G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114672] | uncertain significance | 12 | 102402484 | 102402484 | Human | 1 | name , alternate_id |
| 155920160 | CV2032101 | single nucleotide variant | NM_000618.5(IGF1):c.63+5A>G | not provided [RCV002727345] | uncertain significance | 12 | 102480314 | 102480314 | Human | | name |
| 11603616 | CV315823 | single nucleotide variant | NM_000618.5(IGF1):c.*722G>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000301613] | likely benign|uncertain significance | 12 | 102401785 | 102401785 | Human | 1 | name , alternate_id |
| 11608887 | CV315825 | single nucleotide variant | NM_000618.5(IGF1):c.*447G>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000361129] | uncertain significance | 12 | 102402060 | 102402060 | Human | 1 | name , alternate_id |
| 11605219 | CV322912 | single nucleotide variant | NM_000618.5(IGF1):c.*265T>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000317017] | uncertain significance | 12 | 102402242 | 102402242 | Human | 1 | name , alternate_id |
| 11599206 | CV322913 | single nucleotide variant | NM_000618.5(IGF1):c.*263T>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000263592]|not provided [RCV004703612]|not specified [RCV000455458] | benign|likely benign | 12 | 102402244 | 102402244 | Human | 1 | name , alternate_id |
| 11605372 | CV322919 | single nucleotide variant | NM_000618.5(IGF1):c.*261A>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000318749]|not provided [RCV004706876] | benign|likely benign | 12 | 102402246 | 102402246 | Human | 1 | name , alternate_id |
| 11610854 | CV322925 | single nucleotide variant | NM_000618.5(IGF1):c.*105T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000387219]|not provided [RCV004703613] | likely benign|uncertain significance | 12 | 102402402 | 102402402 | Human | 1 | name , alternate_id |
| 617152965 | CV4020857 | deletion | NM_000618.5(IGF1):c.*263del | not provided [RCV005428610] | likely benign | 12 | 102402244 | 102402244 | Human | | name |
| 28911866 | CV869125 | single nucleotide variant | NM_000618.5(IGF1):c.*954G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111291] | uncertain significance | 12 | 102401553 | 102401553 | Human | 1 | name , alternate_id |
| 28911867 | CV869126 | single nucleotide variant | NM_000618.5(IGF1):c.*784A>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111292] | likely benign | 12 | 102401723 | 102401723 | Human | 1 | name , alternate_id |
| 28911868 | CV869127 | single nucleotide variant | NM_000618.5(IGF1):c.*780G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111293] | uncertain significance | 12 | 102401727 | 102401727 | Human | 1 | name , alternate_id |
| 28911869 | CV869128 | single nucleotide variant | NM_000618.5(IGF1):c.*771T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111294] | benign | 12 | 102401736 | 102401736 | Human | 1 | name , alternate_id |
| 28911870 | CV869129 | single nucleotide variant | NM_000618.5(IGF1):c.*662C>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111295] | uncertain significance | 12 | 102401845 | 102401845 | Human | 1 | name , alternate_id |
| 28869870 | CV869130 | single nucleotide variant | NM_000618.5(IGF1):c.*550C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113304] | uncertain significance | 12 | 102401957 | 102401957 | Human | 1 | name , alternate_id |
| 28869873 | CV869131 | single nucleotide variant | NM_000618.5(IGF1):c.*447G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113305] | uncertain significance | 12 | 102402060 | 102402060 | Human | 1 | name , alternate_id |
| 28869875 | CV869132 | single nucleotide variant | NM_000618.5(IGF1):c.*306A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113306] | benign | 12 | 102402201 | 102402201 | Human | 1 | name , alternate_id |
| 28869878 | CV869133 | single nucleotide variant | NM_000618.5(IGF1):c.*260A>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113307]|not provided [RCV004693688] | uncertain significance | 12 | 102402247 | 102402247 | Human | 1 | name , alternate_id |
| 28872725 | CV869134 | single nucleotide variant | NM_000618.5(IGF1):c.*259A>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114671]|not provided [RCV003389860] | likely benign | 12 | 102402248 | 102402248 | Human | 1 | name , alternate_id |
| 405042021 | CV3154068 | single nucleotide variant | NM_000618.5(IGF1):c.63+13T>A | not provided [RCV003848936] | likely benign | 12 | 102480306 | 102480306 | Human | | name |
| 11611157 | CV315777 | single nucleotide variant | NM_000618.5(IGF1):c.*6433G>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000391004]|not provided [RCV004706868] | benign|likely benign | 12 | 102396074 | 102396074 | Human | 1 | name , alternate_id |
| 11599719 | CV315778 | single nucleotide variant | NM_000618.5(IGF1):c.*5533C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000268087] | uncertain significance | 12 | 102396974 | 102396974 | Human | 1 | name , alternate_id |
| 11608378 | CV315783 | single nucleotide variant | NM_000618.5(IGF1):c.*5449G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000354582] | uncertain significance | 12 | 102397058 | 102397058 | Human | 1 | name , alternate_id |
| 11661220 | CV315785 | single nucleotide variant | NM_000618.5(IGF1):c.*5187A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000374251] | uncertain significance | 12 | 102397320 | 102397320 | Human | 1 | name , alternate_id |
| 11647160 | CV315786 | single nucleotide variant | NM_000618.5(IGF1):c.*5079T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000274806] | uncertain significance | 12 | 102397428 | 102397428 | Human | 1 | name , alternate_id |
| 11656001 | CV315790 | single nucleotide variant | NM_000618.5(IGF1):c.*4980T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000329923] | uncertain significance | 12 | 102397527 | 102397527 | Human | 1 | name , alternate_id |
| 11662782 | CV315792 | single nucleotide variant | NM_000618.5(IGF1):c.*4940C>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000389180] | uncertain significance | 12 | 102397567 | 102397567 | Human | 1 | name , alternate_id |
| 11610354 | CV315793 | single nucleotide variant | NM_000618.5(IGF1):c.*4540C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000380761] | uncertain significance | 12 | 102397967 | 102397967 | Human | 1 | name , alternate_id |
| 11647680 | CV315797 | single nucleotide variant | NM_000618.5(IGF1):c.*3933G>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000277563] | uncertain significance | 12 | 102398574 | 102398574 | Human | 1 | name , alternate_id |
| 11655942 | CV315798 | duplication | NM_000618.5(IGF1):c.*3707dup | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000329426] | uncertain significance | 12 | 102398799 | 102398800 | Human | 1 | name , alternate_id |
| 11611305 | CV315806 | single nucleotide variant | NM_000618.5(IGF1):c.*3388C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000392965]|not provided [RCV004708217] | benign|likely benign | 12 | 102399119 | 102399119 | Human | 1 | name , alternate_id |
| 11604622 | CV315807 | single nucleotide variant | NM_000618.5(IGF1):c.*3226C>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000311101]|not provided [RCV004706873] | benign|uncertain significance | 12 | 102399281 | 102399281 | Human | 1 | name , alternate_id |
| 11655765 | CV315811 | duplication | NM_000618.5(IGF1):c.*2377dup | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000328059] | uncertain significance | 12 | 102400129 | 102400130 | Human | 1 | name , alternate_id |
| 11645299 | CV315812 | deletion | NM_000618.5(IGF1):c.*2375del | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000264611]|not provided [RCV004693081] | uncertain significance | 12 | 102400132 | 102400132 | Human | 1 | name , alternate_id |
| 11607893 | CV315820 | single nucleotide variant | NM_000618.5(IGF1):c.*1770C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000348790]|not provided [RCV004708219] | benign | 12 | 102400737 | 102400737 | Human | 1 | name , alternate_id |
| 11657944 | CV315821 | single nucleotide variant | NM_000618.5(IGF1):c.*1386G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000345215] | uncertain significance | 12 | 102401121 | 102401121 | Human | 1 | name , alternate_id |
| 11664680 | CV315822 | single nucleotide variant | NM_000618.5(IGF1):c.*1354A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000407954] | pathogenic|uncertain significance | 12 | 102401153 | 102401153 | Human | 1 | name , alternate_id |
| 11605443 | CV322844 | single nucleotide variant | NM_000618.5(IGF1):c.*5270T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000319636] | benign|likely benign | 12 | 102397237 | 102397237 | Human | 1 | name , alternate_id |
| 11602427 | CV322847 | single nucleotide variant | NM_000618.5(IGF1):c.*4536T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000290971] | benign|uncertain significance | 12 | 102397971 | 102397971 | Human | 1 | name , alternate_id |
| 11658039 | CV322859 | single nucleotide variant | NM_000618.5(IGF1):c.*4525C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000345937] | uncertain significance | 12 | 102397982 | 102397982 | Human | 1 | name , alternate_id |
| 11657637 | CV322871 | single nucleotide variant | NM_000618.5(IGF1):c.*4413T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000342675] | uncertain significance | 12 | 102398094 | 102398094 | Human | 1 | name , alternate_id |
| 11609368 | CV322872 | single nucleotide variant | NM_000618.5(IGF1):c.*4008C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000367449] | likely benign|uncertain significance | 12 | 102398499 | 102398499 | Human | 1 | name , alternate_id |
| 11662073 | CV322875 | single nucleotide variant | NM_000618.5(IGF1):c.*3915A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000382474] | uncertain significance | 12 | 102398592 | 102398592 | Human | 1 | name , alternate_id |
| 11599929 | CV322881 | single nucleotide variant | NM_000618.5(IGF1):c.*3716G>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000269740] | uncertain significance | 12 | 102398791 | 102398791 | Human | 1 | name , alternate_id |
| 11603490 | CV322899 | single nucleotide variant | NM_000618.5(IGF1):c.*3366C>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000300487] | uncertain significance | 12 | 102399141 | 102399141 | Human | 1 | name , alternate_id |
| 11612189 | CV322903 | single nucleotide variant | NM_000618.5(IGF1):c.*2827C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000404888] | uncertain significance | 12 | 102399680 | 102399680 | Human | 1 | name , alternate_id |
| 11609006 | CV322905 | single nucleotide variant | NM_000618.5(IGF1):c.*2652T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000362408]|not provided [RCV001690018] | benign | 12 | 102399855 | 102399855 | Human | 2 | name , alternate_id |
| 11609006 | CV322905 | single nucleotide variant | NM_000618.5(IGF1):c.*2652T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000362408]|not provided [RCV001690018] | benign | 12 | 102399855 | 102399856 | Human | 2 | name , alternate_id |
| 11659598 | CV322906 | deletion | NM_000618.5(IGF1):c.*2376del | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000359397] | uncertain significance | 12 | 102400131 | 102400131 | Human | 1 | name , alternate_id |
| 11635271 | CV322907 | duplication | NM_000618.5(IGF1):c.*2375dup | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000324496] | uncertain significance | 12 | 102400131 | 102400132 | Human | 1 | name , alternate_id |
| 11605431 | CV322911 | single nucleotide variant | NM_000618.5(IGF1):c.*2266T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000319532]|not provided [RCV004706875] | benign|likely benign | 12 | 102400241 | 102400241 | Human | 1 | name , alternate_id |
| 11647919 | CV328881 | single nucleotide variant | NM_000618.5(IGF1):c.*6598T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000279255] | uncertain significance | 12 | 102395909 | 102395909 | Human | 1 | name , alternate_id |
| 11658533 | CV328889 | single nucleotide variant | NM_000618.5(IGF1):c.*6243A>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000349626] | uncertain significance | 12 | 102396264 | 102396264 | Human | 1 | name , alternate_id |
| 11663005 | CV328890 | single nucleotide variant | NM_000618.5(IGF1):c.*6227G>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000391168] | uncertain significance | 12 | 102396280 | 102396280 | Human | 1 | name , alternate_id |
| 11625937 | CV328907 | single nucleotide variant | NM_000618.5(IGF1):c.*6093G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000404618]|not provided [RCV004706870] | benign|likely benign | 12 | 102396414 | 102396414 | Human | 2 | name , alternate_id |
| 11625937 | CV328907 | single nucleotide variant | NM_000618.5(IGF1):c.*6093G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000404618]|not provided [RCV004706870] | benign|likely benign | 12 | 102396414 | 102396415 | Human | 2 | name , alternate_id |
| 11652189 | CV328913 | single nucleotide variant | NM_000618.5(IGF1):c.*5844A>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000303419] | uncertain significance | 12 | 102396663 | 102396663 | Human | 1 | name , alternate_id |
| 11622265 | CV328921 | duplication | NM_000618.5(IGF1):c.*5718dup | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000358175] | benign | 12 | 102396788 | 102396789 | Human | 1 | name , alternate_id |
| 11617457 | CV328922 | single nucleotide variant | NM_000618.5(IGF1):c.*5505T>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000304519]|not provided [RCV004706871] | benign | 12 | 102397002 | 102397002 | Human | 1 | name , alternate_id |
| 11650836 | CV328925 | single nucleotide variant | NM_000618.5(IGF1):c.*4699C>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000294947] | uncertain significance | 12 | 102397808 | 102397808 | Human | 1 | name , alternate_id |
| 11624959 | CV328929 | deletion | NM_000618.5(IGF1):c.*4484del | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000392650] | likely benign | 12 | 102398023 | 102398023 | Human | 1 | name , alternate_id |
| 11644908 | CV328945 | single nucleotide variant | NM_000618.5(IGF1):c.*4368C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000262375] | pathogenic|likely benign|uncertain significance | 12 | 102398139 | 102398139 | Human | 1 | name , alternate_id |
| 11618312 | CV328946 | single nucleotide variant | NM_000618.5(IGF1):c.*4107T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000312818] | likely benign|uncertain significance | 12 | 102398400 | 102398400 | Human | 1 | name , alternate_id |
| 11662256 | CV328948 | single nucleotide variant | NM_000618.5(IGF1):c.*3615T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000384119] | uncertain significance | 12 | 102398892 | 102398892 | Human | 1 | name , alternate_id |
| 11615387 | CV328951 | single nucleotide variant | NM_000618.5(IGF1):c.*3552C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000285070]|not provided [RCV004706872] | benign|uncertain significance | 12 | 102398955 | 102398955 | Human | 1 | name , alternate_id |
| 11624992 | CV328960 | single nucleotide variant | NM_000618.5(IGF1):c.*3360G>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000392979] | uncertain significance | 12 | 102399147 | 102399147 | Human | 1 | name , alternate_id |
| 11613958 | CV328967 | single nucleotide variant | NM_000618.5(IGF1):c.*2499T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000272995] | pathogenic|benign | 12 | 102400008 | 102400008 | Human | 1 | name , alternate_id |
| 11648075 | CV328970 | single nucleotide variant | NM_000618.5(IGF1):c.*2362A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000279889] | uncertain significance | 12 | 102400145 | 102400145 | Human | 1 | name , alternate_id |
| 11623523 | CV328971 | single nucleotide variant | NM_000618.5(IGF1):c.*2266T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000374174] | likely benign|uncertain significance | 12 | 102400241 | 102400241 | Human | 1 | name , alternate_id |
| 11650625 | CV328977 | single nucleotide variant | NM_000618.5(IGF1):c.*2195G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000293841] | uncertain significance | 12 | 102400312 | 102400312 | Human | 1 | name , alternate_id |
| 11625497 | CV328981 | single nucleotide variant | NM_000618.5(IGF1):c.*1753C>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000399689] | likely benign|uncertain significance | 12 | 102400754 | 102400754 | Human | 1 | name , alternate_id |
| 11660163 | CV328982 | single nucleotide variant | NM_000618.5(IGF1):c.*1033A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000364548] | uncertain significance | 12 | 102401474 | 102401474 | Human | 1 | name , alternate_id |
| 11623315 | CV330126 | single nucleotide variant | NM_000618.5(IGF1):c.*6622A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000371468]|not provided [RCV004693078] | uncertain significance | 12 | 102395885 | 102395885 | Human | 1 | name , alternate_id |
| 11616195 | CV330127 | single nucleotide variant | NM_000618.5(IGF1):c.*6384C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000292383]|not provided [RCV004706869] | benign|likely benign | 12 | 102396123 | 102396123 | Human | 1 | name , alternate_id |
| 11653300 | CV330131 | single nucleotide variant | NM_000618.5(IGF1):c.*6181T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000310093] | uncertain significance | 12 | 102396326 | 102396326 | Human | 1 | name , alternate_id |
| 11659936 | CV330137 | single nucleotide variant | NM_000618.5(IGF1):c.*6119G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000362486] | uncertain significance | 12 | 102396388 | 102396388 | Human | 1 | name , alternate_id |
| 11644394 | CV330139 | single nucleotide variant | NM_000618.5(IGF1):c.*5332G>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000259664] | uncertain significance | 12 | 102397175 | 102397175 | Human | 1 | name , alternate_id |
| 11657909 | CV330142 | single nucleotide variant | NM_000618.5(IGF1):c.*4669G>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000344880] | uncertain significance | 12 | 102397838 | 102397838 | Human | 1 | name , alternate_id |
| 11624930 | CV330151 | single nucleotide variant | NM_000618.5(IGF1):c.*4411T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000392655] | likely benign|uncertain significance | 12 | 102398096 | 102398096 | Human | 1 | name , alternate_id |
| 11622159 | CV330163 | single nucleotide variant | NM_000618.5(IGF1):c.*4404G>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000357290] | uncertain significance | 12 | 102398103 | 102398103 | Human | 1 | name , alternate_id |
| 11620090 | CV330166 | single nucleotide variant | NM_000618.5(IGF1):c.*3923T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000332556] | uncertain significance | 12 | 102398584 | 102398584 | Human | 1 | name , alternate_id |
| 11623258 | CV330183 | single nucleotide variant | NM_000618.5(IGF1):c.*3190A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000370382] | uncertain significance | 12 | 102399317 | 102399317 | Human | 1 | name , alternate_id |
| 11617796 | CV330185 | single nucleotide variant | NM_000618.5(IGF1):c.*2716G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000307677]|not provided [RCV004708218] | benign | 12 | 102399791 | 102399791 | Human | 1 | name , alternate_id |
| 11623921 | CV330186 | single nucleotide variant | NM_000618.5(IGF1):c.*2364A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000378960]|not provided [RCV004706874] | benign|likely benign | 12 | 102400143 | 102400143 | Human | 2 | name , alternate_id |
| 11623921 | CV330186 | single nucleotide variant | NM_000618.5(IGF1):c.*2364A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000378960]|not provided [RCV004706874] | benign|likely benign | 12 | 102400143 | 102400144 | Human | 2 | name , alternate_id |
| 11616456 | CV330187 | single nucleotide variant | NM_000618.5(IGF1):c.*1724C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000295007] | uncertain significance | 12 | 102400783 | 102400783 | Human | 1 | name , alternate_id |
| 11618080 | CV330189 | single nucleotide variant | NM_000618.5(IGF1):c.*1319A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000309832] | uncertain significance | 12 | 102401188 | 102401188 | Human | 1 | name , alternate_id |
| 407503632 | CV3495836 | single nucleotide variant | NM_000618.5(IGF1):c.220+2T>A | not provided [RCV004697676] | likely pathogenic | 12 | 102475641 | 102475641 | Human | | name |
| 13838372 | CV589674 | single nucleotide variant | NM_000618.5(IGF1):c.220+1G>T | not provided [RCV000735047] | likely pathogenic | 12 | 102475642 | 102475642 | Human | | name |
| 28911701 | CV869086 | single nucleotide variant | NM_000618.5(IGF1):c.*6583A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111022] | uncertain significance | 12 | 102395924 | 102395924 | Human | 1 | name , alternate_id |
| 28911702 | CV869087 | single nucleotide variant | NM_000618.5(IGF1):c.*6311T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111023] | benign | 12 | 102396196 | 102396196 | Human | 1 | name , alternate_id |
| 28869204 | CV869088 | single nucleotide variant | NM_000618.5(IGF1):c.*5991C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113014] | uncertain significance | 12 | 102396516 | 102396516 | Human | 1 | name , alternate_id |
| 28869208 | CV869089 | single nucleotide variant | NM_000618.5(IGF1):c.*5930A>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113015] | uncertain significance | 12 | 102396577 | 102396577 | Human | 1 | name , alternate_id |
| 28869211 | CV869090 | single nucleotide variant | NM_000618.5(IGF1):c.*5670C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113016] | uncertain significance | 12 | 102396837 | 102396837 | Human | 1 | name , alternate_id |
| 28872103 | CV869091 | single nucleotide variant | NM_000618.5(IGF1):c.*5538C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114392] | uncertain significance | 12 | 102396969 | 102396969 | Human | 1 | name , alternate_id |
| 28872105 | CV869092 | single nucleotide variant | NM_000618.5(IGF1):c.*5332G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114393] | uncertain significance | 12 | 102397175 | 102397175 | Human | 1 | name , alternate_id |
| 28872108 | CV869093 | single nucleotide variant | NM_000618.5(IGF1):c.*5289T>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114394] | uncertain significance | 12 | 102397218 | 102397218 | Human | 1 | name , alternate_id |
| 28911319 | CV869094 | single nucleotide variant | NM_000618.5(IGF1):c.*5202T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001110356] | benign | 12 | 102397305 | 102397305 | Human | 1 | name , alternate_id |
| 28911320 | CV869095 | single nucleotide variant | NM_000618.5(IGF1):c.*5164C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001110357] | uncertain significance | 12 | 102397343 | 102397343 | Human | 1 | name , alternate_id |
| 28911321 | CV869096 | single nucleotide variant | NM_000618.5(IGF1):c.*4758G>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001110358] | uncertain significance | 12 | 102397749 | 102397749 | Human | 1 | name , alternate_id |
| 28911747 | CV869097 | single nucleotide variant | NM_000618.5(IGF1):c.*4739C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111101] | likely benign | 12 | 102397768 | 102397768 | Human | 1 | name , alternate_id |
| 28911748 | CV869098 | single nucleotide variant | NM_000618.5(IGF1):c.*4519T>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111102] | uncertain significance | 12 | 102397988 | 102397988 | Human | 1 | name , alternate_id |
| 28911749 | CV869099 | single nucleotide variant | NM_000618.5(IGF1):c.*4488T>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111103] | uncertain significance | 12 | 102398019 | 102398019 | Human | 1 | name , alternate_id |
| 28869384 | CV869100 | single nucleotide variant | NM_000618.5(IGF1):c.*4410T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113093]|not provided [RCV003393848] | likely benign | 12 | 102398097 | 102398097 | Human | 1 | name , alternate_id |
| 28869387 | CV869101 | single nucleotide variant | NM_000618.5(IGF1):c.*4409T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113094] | uncertain significance | 12 | 102398098 | 102398098 | Human | 1 | name , alternate_id |
| 28869389 | CV869102 | single nucleotide variant | NM_000618.5(IGF1):c.*4009G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113095] | benign | 12 | 102398498 | 102398498 | Human | 1 | name , alternate_id |
| 28872292 | CV869103 | single nucleotide variant | NM_000618.5(IGF1):c.*4007G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114473] | uncertain significance | 12 | 102398500 | 102398500 | Human | 1 | name , alternate_id |
| 28872294 | CV869104 | single nucleotide variant | NM_000618.5(IGF1):c.*3971A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114474]|not provided [RCV004709024] | benign | 12 | 102398536 | 102398536 | Human | 1 | name , alternate_id |
| 28872296 | CV869105 | single nucleotide variant | NM_000618.5(IGF1):c.*3890G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114475] | uncertain significance | 12 | 102398617 | 102398617 | Human | 1 | name , alternate_id |
| 28872299 | CV869106 | single nucleotide variant | NM_000618.5(IGF1):c.*3800G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114476] | uncertain significance | 12 | 102398707 | 102398707 | Human | 1 | name , alternate_id |
| 28911379 | CV869107 | single nucleotide variant | NM_000618.5(IGF1):c.*2968C>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001110448] | pathogenic|uncertain significance | 12 | 102399539 | 102399539 | Human | 1 | name , alternate_id |
| 28911795 | CV869108 | single nucleotide variant | NM_000618.5(IGF1):c.*2908T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111191] | uncertain significance | 12 | 102399599 | 102399599 | Human | 1 | name , alternate_id |
| 28911796 | CV869109 | single nucleotide variant | NM_000618.5(IGF1):c.*2820A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111192] | uncertain significance | 12 | 102399687 | 102399687 | Human | 1 | name , alternate_id |
| 28869643 | CV869110 | single nucleotide variant | NM_000618.5(IGF1):c.*2241C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113199] | uncertain significance | 12 | 102400266 | 102400266 | Human | 1 | name , alternate_id |
| 28869646 | CV869111 | single nucleotide variant | NM_000618.5(IGF1):c.*2212G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113200] | uncertain significance | 12 | 102400295 | 102400295 | Human | 1 | name , alternate_id |
| 28869648 | CV869112 | single nucleotide variant | NM_000618.5(IGF1):c.*2197A>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113201] | uncertain significance | 12 | 102400310 | 102400310 | Human | 1 | name , alternate_id |
| 28869652 | CV869113 | single nucleotide variant | NM_000618.5(IGF1):c.*2047C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113202] | uncertain significance | 12 | 102400460 | 102400460 | Human | 1 | name , alternate_id |
| 28869653 | CV869114 | single nucleotide variant | NM_000618.5(IGF1):c.*2047C>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001113203] | uncertain significance | 12 | 102400460 | 102400460 | Human | 1 | name , alternate_id |
| 28872485 | CV869115 | single nucleotide variant | NM_000618.5(IGF1):c.*2006C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114568] | uncertain significance | 12 | 102400501 | 102400501 | Human | 1 | name , alternate_id |
| 28872489 | CV869116 | single nucleotide variant | NM_000618.5(IGF1):c.*1940T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114569] | uncertain significance | 12 | 102400567 | 102400567 | Human | 1 | name , alternate_id |
| 28872492 | CV869117 | single nucleotide variant | NM_000618.5(IGF1):c.*1849G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114570] | uncertain significance | 12 | 102400658 | 102400658 | Human | 1 | name , alternate_id |
| 28872495 | CV869118 | single nucleotide variant | NM_000618.5(IGF1):c.*1718T>G | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114571] | uncertain significance | 12 | 102400789 | 102400789 | Human | 1 | name , alternate_id |
| 28910151 | CV869119 | single nucleotide variant | NM_000618.5(IGF1):c.*1643G>A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001108936] | uncertain significance | 12 | 102400864 | 102400864 | Human | 1 | name , alternate_id |
| 28910153 | CV869120 | single nucleotide variant | NM_000618.5(IGF1):c.*1489T>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001108937] | uncertain significance | 12 | 102401018 | 102401018 | Human | 1 | name , alternate_id |
| 28910155 | CV869121 | single nucleotide variant | NM_000618.5(IGF1):c.*1398C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001108938] | uncertain significance | 12 | 102401109 | 102401109 | Human | 1 | name , alternate_id |
| 28910157 | CV869122 | single nucleotide variant | NM_000618.5(IGF1):c.*1204C>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001108939] | uncertain significance | 12 | 102401303 | 102401303 | Human | 1 | name , alternate_id |
| 28910159 | CV869123 | single nucleotide variant | NM_000618.5(IGF1):c.*1157G>T | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001108940] | pathogenic|uncertain significance | 12 | 102401350 | 102401350 | Human | 1 | name , alternate_id |
| 28911865 | CV869124 | single nucleotide variant | NM_000618.5(IGF1):c.*1054G>C | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001111290] | uncertain significance | 12 | 102401453 | 102401453 | Human | 1 | name , alternate_id |
| 597914141 | CV3740598 | single nucleotide variant | NM_000618.5(IGF1):c.220+10C>T | not provided [RCV005073935] | likely benign | 12 | 102475633 | 102475633 | Human | | name |
| 597883067 | CV3741243 | single nucleotide variant | NM_000618.5(IGF1):c.221-18T>C | not provided [RCV005070150] | likely benign | 12 | 102419708 | 102419708 | Human | | name |
| 11613212 | CV328988 | microsatellite | NM_000618.5(IGF1):c.*262AT[10] | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000266492]|not provided [RCV004693082] | uncertain significance | 12 | 102402227 | 102402228 | Human | | name , alternate_id |
| 11635658 | CV315799 | microsatellite | NM_000618.5(IGF1):c.*3362CA[23] | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000380407] | uncertain significance | 12 | 102399107 | 102399108 | Human | | name , alternate_id |
| 11635366 | CV322885 | microsatellite | NM_000618.5(IGF1):c.*3362CA[20] | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000339812]|not provided [RCV004693079] | uncertain significance | 12 | 102399107 | 102399108 | Human | | name , alternate_id |
| 11656788 | CV322897 | microsatellite | NM_000618.5(IGF1):c.*3362CA[17] | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000336481]|not provided [RCV004693080] | uncertain significance | 12 | 102399108 | 102399111 | Human | | name , alternate_id |
| 11649225 | CV328959 | microsatellite | NM_000618.5(IGF1):c.*3362CA[18] | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000286202] | uncertain significance | 12 | 102399108 | 102399109 | Human | | name , alternate_id |
| 12849502 | CV363813 | single nucleotide variant | NM_000618.5(IGF1):c.402+1663C>A | not provided [RCV000431035] | likely benign | 12 | 102417846 | 102417846 | Human | | name |
| 616934164 | CV4012140 | single nucleotide variant | NM_000618.5(IGF1):c.402+1534C>T | not specified [RCV005409174] | likely benign | 12 | 102417975 | 102417975 | Human | | name |
| 405284108 | CV3213587 | duplication | NM_000618.5(IGF1):c.*261_*262dup | IGF1-related disorder [RCV003922159] | likely benign | 12 | 102402244 | 102402245 | Human | | name , trait , alternate_id |
| 11625868 | CV328986 | deletion | NM_000618.5(IGF1):c.*753_*754del | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000404218] | likely benign | 12 | 102401753 | 102401754 | Human | 1 | name , alternate_id |
| 8653473 | CV130048 | single nucleotide variant | NM_001111283.1(IGF1):c.451+5018A>G | Lung cancer [RCV000110535] | uncertain significance | 12 | 102412937 | 102412937 | Human | | name |
| 11651207 | CV330159 | deletion | NM_000618.5(IGF1):c.*4404_*4407del | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000297735] | uncertain significance | 12 | 102398100 | 102398103 | Human | 1 | name , alternate_id |
| 11651885 | CV315794 | insertion | NM_000618.5(IGF1):c.*4421_*4422insT | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000301687] | uncertain significance | 12 | 102398085 | 102398086 | Human | 1 | name , alternate_id |
| 28910284 | CV869138 | single nucleotide variant | NM_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 significance | 12 | 102475773 | 102475773 | Human | 1 | name , alternate_id |
| 151732472 | CV1378415 | single nucleotide variant | NM_000618.5(IGF1):c.16A>T (p.Ser6Cys) | not provided [RCV002041349] | uncertain significance | 12 | 102480366 | 102480366 | Human | | name |
| 152058858 | CV1532654 | single nucleotide variant | NM_000618.5(IGF1):c.162C>T (p.Cys54=) | not provided [RCV002208414] | likely benign | 12 | 102475701 | 102475701 | Human | | name |
| 152160408 | CV1652068 | single nucleotide variant | NM_000618.5(IGF1):c.108G>A (p.Ala36=) | not provided [RCV002180833] | likely benign | 12 | 102475755 | 102475755 | Human | | name |
| 156414668 | CV1909010 | single nucleotide variant | NM_000618.5(IGF1):c.258G>A (p.Ala86=) | not provided [RCV002588740] | likely benign | 12 | 102419653 | 102419653 | Human | | name |
| 10050655 | CV192256 | single nucleotide variant | NM_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 significance | 12 | 102475656 | 102475656 | Human | 1 | name , alternate_id |
| 156337059 | CV1964003 | single nucleotide variant | NM_000618.5(IGF1):c.273C>T (p.Ile91=) | not provided [RCV002580300] | likely benign | 12 | 102419638 | 102419638 | Human | | name |
| 156343280 | CV2364089 | single nucleotide variant | NM_000618.5(IGF1):c.19C>T (p.Leu7Phe) | Inborn genetic diseases [RCV002674701]|not specified [RCV005406627] | uncertain significance | 12 | 102480363 | 102480363 | Human | 1 | name |
| 401932310 | CV2816784 | single nucleotide variant | NM_000618.5(IGF1):c.135T>A (p.Ser45=) | not provided [RCV003391962] | likely benign | 12 | 102475728 | 102475728 | Human | | name |
| 402512056 | CV3178431 | single nucleotide variant | NM_000618.5(IGF1):c.141G>A (p.Thr47=) | not provided [RCV003879048] | likely benign | 12 | 102475722 | 102475722 | Human | | name |
| 13835579 | CV586840 | single nucleotide variant | NM_000618.5(IGF1):c.156G>A (p.Thr52=) | IGF1-related disorder [RCV003947930]|not provided [RCV000884004]|not specified [RCV000731419] | benign|likely benign | 12 | 102475707 | 102475707 | Human | 1 | name , alternate_id |
| 15175967 | CV738394 | single nucleotide variant | NM_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 benign | 12 | 102419626 | 102419626 | Human | 1 | name , alternate_id |
| 15110782 | CV753049 | single nucleotide variant | NM_000618.5(IGF1):c.297C>T (p.Ser99=) | not provided [RCV000916604] | likely benign | 12 | 102419614 | 102419614 | Human | | name |
| 28910282 | CV869137 | single nucleotide variant | NM_000618.5(IGF1):c.150G>A (p.Pro50=) | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001109041] | uncertain significance | 12 | 102475713 | 102475713 | Human | 1 | name , alternate_id |
| 151793247 | CV1467653 | single nucleotide variant | NM_000618.5(IGF1):c.402G>A (p.Lys134=) | not provided [RCV001931622] | uncertain significance | 12 | 102419509 | 102419509 | Human | | name |
| 152103452 | CV1548569 | single nucleotide variant | NM_000618.5(IGF1):c.324T>C (p.Tyr108=) | not provided [RCV002079284] | likely benign | 12 | 102419587 | 102419587 | Human | | name |
| 152133205 | CV1588369 | single nucleotide variant | NM_000618.5(IGF1):c.381C>T (p.Thr127=) | not provided [RCV002199598] | likely benign | 12 | 102419530 | 102419530 | Human | | name |
| 156258165 | CV2159346 | single nucleotide variant | NM_000618.5(IGF1):c.65T>A (p.Val22Glu) | not provided [RCV003026570] | uncertain significance | 12 | 102475798 | 102475798 | Human | | name |
| 329847734 | CV2524483 | deletion | NM_000618.5(IGF1):c.103del (p.Leu35fs) | not provided [RCV003227375] | likely pathogenic | 12 | 102475760 | 102475760 | Human | | name |
| 11658919 | CV315826 | indel | NM_000618.5(IGF1):c.*263_*265delinsAAA | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000353163] | uncertain significance | 12 | 102402242 | 102402244 | Human | | name , alternate_id |
| 11656807 | CV330175 | insertion | NM_000618.5(IGF1):c.*3365_*3366insGACA | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000336611] | uncertain significance | 12 | 102399141 | 102399142 | Human | 1 | name , alternate_id |
| 405853183 | CV3393616 | single nucleotide variant | NM_000618.5(IGF1):c.315G>T (p.Leu105=) | not provided [RCV004546346] | likely benign | 12 | 102419596 | 102419596 | Human | | name |
| 597954871 | CV3786772 | deletion | NM_000618.5(IGF1):c.205del (p.Arg69fs) | not provided [RCV005121863] | pathogenic | 12 | 102475658 | 102475658 | Human | | name |
| 616934147 | CV4012161 | single nucleotide variant | NM_000618.5(IGF1):c.315G>A (p.Leu105=) | not specified [RCV005409195] | likely benign | 12 | 102419596 | 102419596 | Human | | name |
| 15175070 | CV713284 | single nucleotide variant | NM_000618.5(IGF1):c.462G>A (p.Ter154=) | not provided [RCV000972857] | likely benign | 12 | 102402507 | 102402507 | Human | | name |
| 25317082 | CV805022 | duplication | NM_000618.5(IGF1):c.156dup (p.Leu53fs) | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001007823] | likely pathogenic | 12 | 102475706 | 102475707 | Human | 1 | name , alternate_id |
| 28872730 | CV869136 | single nucleotide variant | NM_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 significance | 12 | 102419527 | 102419527 | Human | 1 | name , alternate_id |
| 28910286 | CV869139 | single nucleotide variant | NM_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 significance | 12 | 102480337 | 102480337 | Human | 2 | name , alternate_id |
| 150531229 | CV1299346 | single nucleotide variant | NM_000618.5(IGF1):c.162C>G (p.Cys54Trp) | not provided [RCV001757039] | uncertain significance | 12 | 102475701 | 102475701 | Human | | name |
| 8657465 | CV132700 | single nucleotide variant | NM_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 significance | 12 | 102419619 | 102419619 | Human | 1 | name , alternate_id |
| 151883575 | CV1452406 | single nucleotide variant | NM_000618.5(IGF1):c.293G>A (p.Arg98Gln) | not provided [RCV002037369] | uncertain significance | 12 | 102419618 | 102419618 | Human | | name |
| 151778434 | CV1477119 | single nucleotide variant | NM_000618.5(IGF1):c.257C>T (p.Ala86Val) | not provided [RCV001897014] | uncertain significance | 12 | 102419654 | 102419654 | Human | | name |
| 151808538 | CV1483533 | single nucleotide variant | NM_000618.5(IGF1):c.251G>A (p.Arg84Gln) | not provided [RCV001918380] | uncertain significance | 12 | 102419660 | 102419660 | Human | | name |
| 156287190 | CV2012875 | single nucleotide variant | NM_000618.5(IGF1):c.133T>C (p.Ser45Pro) | not provided [RCV002715509] | uncertain significance | 12 | 102475730 | 102475730 | Human | | name |
| 156205607 | CV2146797 | single nucleotide variant | NM_000618.5(IGF1):c.245G>A (p.Ser82Asn) | not provided [RCV003006484] | uncertain significance | 12 | 102419666 | 102419666 | Human | | name |
| 401914129 | CV2830567 | single nucleotide variant | NM_000618.5(IGF1):c.209G>A (p.Gly70Asp) | not provided [RCV003442305] | uncertain significance | 12 | 102475654 | 102475654 | Human | | name |
| 8599962 | CV29828 | single nucleotide variant | NM_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 pathogenicity | 12 | 102419637 | 102419637 | Human | 1 | name , alternate_id |
| 11602691 | CV315837 | single nucleotide variant | NM_000618.5(IGF1):c.107C>T (p.Ala36Val) | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000292940] | uncertain significance | 12 | 102475756 | 102475756 | Human | 1 | name , alternate_id |
| 25314713 | CV818294 | single nucleotide variant | NM_000618.5(IGF1):c.285C>A (p.Cys95Ter) | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001029775] | pathogenic|likely pathogenic | 12 | 102419626 | 102419626 | Human | 1 | name , alternate_id |
| 126730818 | CV1020963 | single nucleotide variant | NM_000618.5(IGF1):c.421G>T (p.Ala141Ser) | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001333539] | uncertain significance | 12 | 102402548 | 102402548 | Human | 1 | name , alternate_id |
| 126912883 | CV1038117 | single nucleotide variant | NM_000618.5(IGF1):c.380C>T (p.Thr127Ile) | not provided [RCV001356876] | uncertain significance | 12 | 102419531 | 102419531 | Human | | name |
| 151870035 | CV1395309 | single nucleotide variant | NM_000618.5(IGF1):c.344C>T (p.Ala115Val) | not provided [RCV002035540] | uncertain significance | 12 | 102419567 | 102419567 | Human | | name |
| 151748852 | CV1460283 | deletion | NM_000618.5(IGF1):c.34_37del (p.Phe12fs) | not provided [RCV001894115] | pathogenic | 12 | 102480345 | 102480348 | Human | | name |
| 155796827 | CV1860923 | single nucleotide variant | NM_000618.5(IGF1):c.320T>G (p.Met107Arg) | Growth delay due to insulin-like growth factor type 1 deficiency [RCV002468523] | uncertain significance | 12 | 102419591 | 102419591 | Human | 1 | name , alternate_id |
| 155947218 | CV1935706 | single nucleotide variant | NM_000618.5(IGF1):c.316G>A (p.Glu106Lys) | not provided [RCV002511456] | uncertain significance | 12 | 102419595 | 102419595 | Human | | name |
| 329374607 | CV2430957 | single nucleotide variant | NM_000618.5(IGF1):c.356G>A (p.Arg119His) | Inborn genetic diseases [RCV003173501] | uncertain significance | 12 | 102419555 | 102419555 | Human | 1 | name |
| 329954753 | CV2670682 | single nucleotide variant | NM_000618.5(IGF1):c.352G>C (p.Ala118Pro) | not provided [RCV003235950] | uncertain significance | 12 | 102419559 | 102419559 | Human | | name |
| 11642035 | CV272303 | single nucleotide variant | NM_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 significance | 12 | 102419559 | 102419559 | Human | 2 | name , alternate_id |
| 11642502 | CV275351 | single nucleotide variant | NM_000618.5(IGF1):c.421G>A (p.Ala141Thr) | not provided [RCV000376776] | uncertain significance | 12 | 102402548 | 102402548 | Human | | name |
| 401897483 | CV2787088 | single nucleotide variant | NM_000618.5(IGF1):c.376C>A (p.His126Asn) | Inborn genetic diseases [RCV003375129] | uncertain significance | 12 | 102419535 | 102419535 | Human | 1 | name |
| 408367210 | CV3500190 | single nucleotide variant | NM_000618.5(IGF1):c.322T>C (p.Tyr108His) | not provided [RCV004722233] | uncertain significance | 12 | 102419589 | 102419589 | Human | | name |
| 597699497 | CV3680071 | single nucleotide variant | NM_000618.5(IGF1):c.365G>A (p.Arg122His) | Inborn genetic diseases [RCV004987717]|not provided [RCV005061769] | uncertain significance | 12 | 102419546 | 102419546 | Human | 1 | name |
| 15199677 | CV702060 | single nucleotide variant | NM_000618.5(IGF1):c.343G>A (p.Ala115Thr) | Growth delay due to insulin-like growth factor type 1 deficiency [RCV001114675]|not provided [RCV000957108] | benign | 12 | 102419568 | 102419568 | Human | 1 | name , alternate_id |
| 38597032 | CV801881 | single nucleotide variant | NM_000618.5(IGF1):c.401A>G (p.Lys134Arg) | Microcephaly [RCV001252826] | uncertain significance | 12 | 102419510 | 102419510 | Human | 2 | name |
| 38596456 | CV963736 | single nucleotide variant | NM_000618.5(IGF1):c.447G>C (p.Lys149Asn) | Intellectual disability [RCV001251776] | likely benign | 12 | 102402522 | 102402522 | Human | 2 | name |
| 8564451 | CV29826 | deletion | NG_011713.1:g.(9959_65910)_(67647_83034)del | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000015910] | pathogenic | | | | Human | 1 | alternate_id |
| 8564452 | CV29827 | single nucleotide variant | IGF1, MUTATION IN POLYADENYLATION SIGNAL, T-A | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000015911] | pathogenic | | | | Human | | alternate_id |
| 11658687 | CV328883 | indel | NM_000618.5(IGF1):c.*6490_*6493delinsCTAAAATGTAACTAATTGAATA | Growth delay due to insulin-like growth factor type 1 deficiency [RCV000350795] | uncertain significance | 12 | 102396014 | 102396017 | Human | | name , alternate_id |
| 405854712 | CV3394819 | copy number loss | GRCh37/hg19 12q23.2(chr12:102771260-103025475)x1 | Growth delay due to insulin-like growth factor type 1 deficiency [RCV004551159] | pathogenic | | | | Human | | alternate_id |
| 152984227 | CV1675166 | single nucleotide variant | NM_000875.5(IGF1R):c.-4A>G | IGF1R-related disorder [RCV004533992]|not specified [RCV002238582] | uncertain significance | 15 | 98649578 | 98649578 | Human | 1 | name , alternate_id |
| 401930112 | CV2814519 | deletion | NM_000875.5(IGF1R):c.*62del | not provided [RCV003390562] | likely benign | 15 | 98957497 | 98957497 | Human | | name |
| 11599725 | CV323633 | single nucleotide variant | NM_000875.5(IGF1R):c.*49C>T | Growth delay due to insulin-like growth factor I resistance [RCV000268140] | uncertain significance | 15 | 98957491 | 98957491 | Human | 1 | name |
| 11599073 | CV323634 | single nucleotide variant | NM_000875.5(IGF1R):c.*55G>A | Growth delay due to insulin-like growth factor I resistance [RCV000262417] | uncertain significance | 15 | 98957497 | 98957497 | Human | 1 | name |
| 11605464 | CV323636 | single nucleotide variant | NM_000875.5(IGF1R):c.*57G>C | Growth delay due to insulin-like growth factor I resistance [RCV000319940] | uncertain significance | 15 | 98957499 | 98957499 | Human | 1 | name |
| 11659597 | CV323642 | duplication | NM_000875.5(IGF1R):c.*62dup | Growth delay due to insulin-like growth factor I resistance [RCV000359392] | uncertain significance | 15 | 98957496 | 98957497 | Human | 1 | name |
| 11622431 | CV333341 | single nucleotide variant | NM_000875.5(IGF1R):c.*43G>A | Growth delay due to insulin-like growth factor I resistance [RCV000360371] | likely benign|uncertain significance | 15 | 98957485 | 98957485 | Human | 1 | name |
| 11615637 | CV340116 | single nucleotide variant | NM_000875.5(IGF1R):c.-43T>C | Growth delay due to insulin-like growth factor I resistance [RCV000287895] | uncertain significance | 15 | 98649539 | 98649539 | Human | 1 | name |
| 11617809 | CV340137 | single nucleotide variant | NM_000875.5(IGF1R):c.*15A>G | Growth delay due to insulin-like growth factor I resistance [RCV000308113] | likely benign | 15 | 98957457 | 98957457 | Human | 1 | name |
| 11635073 | CV340138 | duplication | NM_000875.5(IGF1R):c.*54dup | Growth delay due to insulin-like growth factor I resistance [RCV000302343] | uncertain significance | 15 | 98957495 | 98957496 | Human | 1 | name |
| 11666964 | CV353335 | single nucleotide variant | NM_000875.5(IGF1R):c.-51T>C | Growth delay due to insulin-like growth factor I resistance [RCV000400837]|not provided [RCV004716412] | benign|likely benign | 15 | 98649531 | 98649531 | Human | 1 | name |
| 28885701 | CV874357 | single nucleotide variant | NM_000875.5(IGF1R):c.*42C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119133] | uncertain significance | 15 | 98957484 | 98957484 | Human | 1 | name |
| 28885707 | CV874358 | single nucleotide variant | NM_000875.5(IGF1R):c.*44C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119134] | uncertain significance | 15 | 98957486 | 98957486 | Human | 1 | name |
| 28891833 | CV874359 | single nucleotide variant | NM_000875.5(IGF1R):c.*55G>C | Growth delay due to insulin-like growth factor I resistance [RCV001121123] | uncertain significance | 15 | 98957497 | 98957497 | Human | 1 | name |
| 28891835 | CV874360 | single nucleotide variant | NM_000875.5(IGF1R):c.*63A>G | Growth delay due to insulin-like growth factor I resistance [RCV001121124] | likely benign | 15 | 98957505 | 98957505 | Human | 1 | name |
| 28891837 | CV874361 | single nucleotide variant | NM_000875.5(IGF1R):c.*83A>G | Growth delay due to insulin-like growth factor I resistance [RCV001121125] | uncertain significance | 15 | 98957525 | 98957525 | Human | 1 | name |
| 11602755 | CV323643 | single nucleotide variant | NM_000875.5(IGF1R):c.*213C>A | Growth delay due to insulin-like growth factor I resistance [RCV000293406] | uncertain significance | 15 | 98957655 | 98957655 | Human | 1 | name |
| 11610621 | CV323646 | single nucleotide variant | NM_000875.5(IGF1R):c.*291C>A | Growth delay due to insulin-like growth factor I resistance [RCV000384146] | uncertain significance | 15 | 98957733 | 98957733 | Human | 1 | name |
| 11602072 | CV323648 | single nucleotide variant | NM_000875.5(IGF1R):c.*346C>T | Growth delay due to insulin-like growth factor I resistance [RCV000287523] | uncertain significance | 15 | 98957788 | 98957788 | Human | 1 | name |
| 11659338 | CV323657 | single nucleotide variant | NM_000875.5(IGF1R):c.*641G>A | Growth delay due to insulin-like growth factor I resistance [RCV000356849] | uncertain significance | 15 | 98958083 | 98958083 | Human | 1 | name |
| 11598764 | CV323659 | single nucleotide variant | NM_000875.5(IGF1R):c.*712G>A | Growth delay due to insulin-like growth factor I resistance [RCV000259697] | uncertain significance | 15 | 98958154 | 98958154 | Human | 1 | name |
| 11660755 | CV323660 | single nucleotide variant | NM_000875.5(IGF1R):c.*806T>C | Growth delay due to insulin-like growth factor I resistance [RCV000369829] | uncertain significance | 15 | 98958248 | 98958248 | Human | 1 | name |
| 11656414 | CV333350 | single nucleotide variant | NM_000875.5(IGF1R):c.*149C>T | Growth delay due to insulin-like growth factor I resistance [RCV000333286] | uncertain significance | 15 | 98957591 | 98957591 | Human | 1 | name |
| 11662391 | CV333351 | single nucleotide variant | NM_000875.5(IGF1R):c.*199C>T | Growth delay due to insulin-like growth factor I resistance [RCV000385436] | uncertain significance | 15 | 98957641 | 98957641 | Human | 1 | name |
| 11647678 | CV333357 | single nucleotide variant | NM_000875.5(IGF1R):c.*837C>T | Growth delay due to insulin-like growth factor I resistance [RCV000277561] | uncertain significance | 15 | 98958279 | 98958279 | Human | 1 | name |
| 11656045 | CV333359 | duplication | NM_000875.5(IGF1R):c.*866dup | Growth delay due to insulin-like growth factor I resistance [RCV000330272] | uncertain significance | 15 | 98958303 | 98958304 | Human | 1 | name |
| 11613837 | CV333360 | single nucleotide variant | NM_000875.5(IGF1R):c.*910C>T | Growth delay due to insulin-like growth factor I resistance [RCV000271795]|not provided [RCV004703690] | likely benign | 15 | 98958352 | 98958352 | Human | 1 | name |
| 11614315 | CV340139 | single nucleotide variant | NM_000875.5(IGF1R):c.*134C>T | Growth delay due to insulin-like growth factor I resistance [RCV000275927]|not provided [RCV004705329] | likely benign|uncertain significance | 15 | 98957576 | 98957576 | Human | 1 | name |
| 11617560 | CV340143 | single nucleotide variant | NM_000875.5(IGF1R):c.*447C>T | Growth delay due to insulin-like growth factor I resistance [RCV000305596] | uncertain significance | 15 | 98957889 | 98957889 | Human | 1 | name |
| 11621246 | CV341567 | single nucleotide variant | NM_000875.5(IGF1R):c.*251A>G | Growth delay due to insulin-like growth factor I resistance [RCV000346005] | uncertain significance | 15 | 98957693 | 98957693 | Human | 1 | name |
| 11657935 | CV341569 | single nucleotide variant | NM_000875.5(IGF1R):c.*362T>C | Growth delay due to insulin-like growth factor I resistance [RCV000345214] | uncertain significance | 15 | 98957804 | 98957804 | Human | 1 | name |
| 11620672 | CV341572 | single nucleotide variant | NM_000875.5(IGF1R):c.*624G>A | Growth delay due to insulin-like growth factor I resistance [RCV000339478] | uncertain significance | 15 | 98958066 | 98958066 | Human | 1 | name |
| 11625997 | CV341573 | single nucleotide variant | NM_000875.5(IGF1R):c.*626T>C | Growth delay due to insulin-like growth factor I resistance [RCV000405242] | likely benign | 15 | 98958068 | 98958068 | Human | 1 | name |
| 11651585 | CV341575 | single nucleotide variant | NM_000875.5(IGF1R):c.*640C>T | Growth delay due to insulin-like growth factor I resistance [RCV000299707] | uncertain significance | 15 | 98958082 | 98958082 | Human | 1 | name |
| 11616885 | CV341577 | single nucleotide variant | NM_000875.5(IGF1R):c.*741C>G | Growth delay due to insulin-like growth factor I resistance [RCV000298700] | uncertain significance | 15 | 98958183 | 98958183 | Human | 1 | name |
| 11624558 | CV341578 | single nucleotide variant | NM_000875.5(IGF1R):c.*874C>T | Growth delay due to insulin-like growth factor I resistance [RCV000387221]|not provided [RCV004715922] | benign|likely benign | 15 | 98958316 | 98958316 | Human | 1 | name |
| 11619765 | CV341584 | single nucleotide variant | NM_000875.5(IGF1R):c.*940C>T | Growth delay due to insulin-like growth factor I resistance [RCV000329188] | uncertain significance | 15 | 98958382 | 98958382 | Human | 1 | name |
| 15107078 | CV760248 | single nucleotide variant | NM_000875.5(IGF1R):c.94+7A>G | IGF1R-related disorder [RCV004543435]|not provided [RCV000915881] | likely benign | 15 | 98649682 | 98649682 | Human | 1 | name , alternate_id |
| 28876227 | CV874362 | single nucleotide variant | NM_000875.5(IGF1R):c.*231A>T | Growth delay due to insulin-like growth factor I resistance [RCV001116212] | uncertain significance | 15 | 98957673 | 98957673 | Human | 1 | name |
| 28876229 | CV874363 | single nucleotide variant | NM_000875.5(IGF1R):c.*257A>C | Growth delay due to insulin-like growth factor I resistance [RCV001116213] | uncertain significance | 15 | 98957699 | 98957699 | Human | 1 | name |
| 28876232 | CV874364 | single nucleotide variant | NM_000875.5(IGF1R):c.*336C>T | Growth delay due to insulin-like growth factor I resistance [RCV001116214] | uncertain significance | 15 | 98957778 | 98957778 | Human | 1 | name |
| 28876235 | CV874365 | single nucleotide variant | NM_000875.5(IGF1R):c.*352G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116215] | likely benign | 15 | 98957794 | 98957794 | Human | 1 | name |
| 28880853 | CV874366 | single nucleotide variant | NM_000875.5(IGF1R):c.*458G>A | Growth delay due to insulin-like growth factor I resistance [RCV001117653] | likely benign | 15 | 98957900 | 98957900 | Human | 1 | name |
| 28880855 | CV874367 | single nucleotide variant | NM_000875.5(IGF1R):c.*502T>C | Growth delay due to insulin-like growth factor I resistance [RCV001117654] | uncertain significance | 15 | 98957944 | 98957944 | Human | 1 | name |
| 28880860 | CV874368 | single nucleotide variant | NM_000875.5(IGF1R):c.*506C>T | Growth delay due to insulin-like growth factor I resistance [RCV001117655] | uncertain significance | 15 | 98957948 | 98957948 | Human | 1 | name |
| 28880866 | CV874369 | single nucleotide variant | NM_000875.5(IGF1R):c.*574C>T | Growth delay due to insulin-like growth factor I resistance [RCV001117656] | uncertain significance | 15 | 98958016 | 98958016 | Human | 1 | name |
| 28880872 | CV874370 | single nucleotide variant | NM_000875.5(IGF1R):c.*621G>A | Growth delay due to insulin-like growth factor I resistance [RCV001117657] | uncertain significance | 15 | 98958063 | 98958063 | Human | 1 | name |
| 28886071 | CV874371 | single nucleotide variant | NM_000875.5(IGF1R):c.*635G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119234] | uncertain significance | 15 | 98958077 | 98958077 | Human | 1 | name |
| 28886075 | CV874372 | single nucleotide variant | NM_000875.5(IGF1R):c.*687C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119235] | likely benign | 15 | 98958129 | 98958129 | Human | 1 | name |
| 28892135 | CV874373 | single nucleotide variant | NM_000875.5(IGF1R):c.*977C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121232] | benign | 15 | 98958419 | 98958419 | Human | 1 | name |
| 156262491 | CV1960713 | single nucleotide variant | NM_000875.5(IGF1R):c.94+15G>A | not provided [RCV002576892] | likely benign | 15 | 98649690 | 98649690 | Human | | name |
| 156125205 | CV1962697 | single nucleotide variant | NM_000875.5(IGF1R):c.953+9C>T | not provided [RCV002572017] | likely benign | 15 | 98891646 | 98891646 | Human | | name |
| 243049981 | CV2417288 | single nucleotide variant | NM_000875.5(IGF1R):c.641-2A>G | not provided [RCV003152160] | pathogenic | 15 | 98891323 | 98891323 | Human | | name |
| 405143752 | CV3126101 | single nucleotide variant | NM_000875.5(IGF1R):c.95-18C>T | not provided [RCV003817017] | likely benign | 15 | 98707544 | 98707544 | Human | | name |
| 402512891 | CV3178496 | single nucleotide variant | NM_000875.5(IGF1R):c.953+8G>A | not provided [RCV003879113] | likely benign | 15 | 98891645 | 98891645 | Human | | name |
| 11661957 | CV323663 | single nucleotide variant | NM_000875.5(IGF1R):c.*1042C>T | Growth delay due to insulin-like growth factor I resistance [RCV000381520] | uncertain significance | 15 | 98958484 | 98958484 | Human | 1 | name |
| 11602324 | CV323666 | single nucleotide variant | NM_000875.5(IGF1R):c.*1087A>G | Growth delay due to insulin-like growth factor I resistance [RCV000290062]|not provided [RCV004715000] | benign|likely benign | 15 | 98958529 | 98958529 | Human | 2 | name |
| 11602324 | CV323666 | single nucleotide variant | NM_000875.5(IGF1R):c.*1087A>G | Growth delay due to insulin-like growth factor I resistance [RCV000290062]|not provided [RCV004715000] | benign|likely benign | 15 | 98958529 | 98958530 | Human | 2 | name |
| 11657445 | CV323670 | single nucleotide variant | NM_000875.5(IGF1R):c.*1229G>A | Growth delay due to insulin-like growth factor I resistance [RCV000341330] | uncertain significance | 15 | 98958671 | 98958671 | Human | 1 | name |
| 11657000 | CV323672 | single nucleotide variant | NM_000875.5(IGF1R):c.*1262A>C | Growth delay due to insulin-like growth factor I resistance [RCV000337852] | uncertain significance | 15 | 98958704 | 98958704 | Human | 1 | name |
| 11660911 | CV323678 | single nucleotide variant | NM_000875.5(IGF1R):c.*1361T>A | Growth delay due to insulin-like growth factor I resistance [RCV000371316] | uncertain significance | 15 | 98958803 | 98958803 | Human | 1 | name |
| 11612247 | CV323679 | single nucleotide variant | NM_000875.5(IGF1R):c.*1425A>C | Growth delay due to insulin-like growth factor I resistance [RCV000405864] | benign|likely benign | 15 | 98958867 | 98958867 | Human | 1 | name |
| 11653070 | CV323680 | single nucleotide variant | NM_000875.5(IGF1R):c.*1513C>T | Growth delay due to insulin-like growth factor I resistance [RCV000308545] | uncertain significance | 15 | 98958955 | 98958955 | Human | 1 | name |
| 11606178 | CV323682 | single nucleotide variant | NM_000875.5(IGF1R):c.*1668C>A | Growth delay due to insulin-like growth factor I resistance [RCV000328347] | likely benign|uncertain significance | 15 | 98959110 | 98959110 | Human | 1 | name |
| 11608745 | CV323684 | single nucleotide variant | NM_000875.5(IGF1R):c.*1681A>G | Growth delay due to insulin-like growth factor I resistance [RCV000359332] | uncertain significance | 15 | 98959123 | 98959123 | Human | 1 | name |
| 11599315 | CV323687 | single nucleotide variant | NM_000875.5(IGF1R):c.*1724C>T | Growth delay due to insulin-like growth factor I resistance [RCV000264534] | benign|likely benign | 15 | 98959166 | 98959166 | Human | 1 | name |
| 11658536 | CV323709 | single nucleotide variant | NM_000875.5(IGF1R):c.*1904G>A | Growth delay due to insulin-like growth factor I resistance [RCV000349668] | uncertain significance | 15 | 98959346 | 98959346 | Human | 1 | name |
| 11611173 | CV323712 | single nucleotide variant | NM_000875.5(IGF1R):c.*1925C>T | Growth delay due to insulin-like growth factor I resistance [RCV000391195] | uncertain significance | 15 | 98959367 | 98959367 | Human | 1 | name |
| 11650990 | CV323717 | single nucleotide variant | NM_000875.5(IGF1R):c.*1931C>T | Growth delay due to insulin-like growth factor I resistance [RCV000295783] | uncertain significance | 15 | 98959373 | 98959373 | Human | 1 | name |
| 11660310 | CV323718 | single nucleotide variant | NM_000875.5(IGF1R):c.*2064T>A | Growth delay due to insulin-like growth factor I resistance [RCV000365695] | uncertain significance | 15 | 98959506 | 98959506 | Human | 1 | name |
| 11664240 | CV323719 | single nucleotide variant | NM_000875.5(IGF1R):c.*2224A>G | Growth delay due to insulin-like growth factor I resistance [RCV000403713] | uncertain significance | 15 | 98959666 | 98959666 | Human | 1 | name |
| 11605717 | CV323720 | single nucleotide variant | NM_000875.5(IGF1R):c.*2379T>C | Growth delay due to insulin-like growth factor I resistance [RCV000322894] | uncertain significance | 15 | 98959821 | 98959821 | Human | 1 | name |
| 11602224 | CV323755 | single nucleotide variant | NM_000875.5(IGF1R):c.*2718C>T | Growth delay due to insulin-like growth factor I resistance [RCV000289290] | likely benign|uncertain significance | 15 | 98960160 | 98960160 | Human | 1 | name |
| 11612126 | CV323756 | single nucleotide variant | NM_000875.5(IGF1R):c.*3074G>A | Growth delay due to insulin-like growth factor I resistance [RCV000404042]|not provided [RCV004715002] | benign|likely benign | 15 | 98960516 | 98960516 | Human | 1 | name |
| 11606289 | CV323762 | single nucleotide variant | NM_000875.5(IGF1R):c.*3445C>T | Growth delay due to insulin-like growth factor I resistance [RCV000329574] | uncertain significance | 15 | 98960887 | 98960887 | Human | 1 | name |
| 11646509 | CV323764 | single nucleotide variant | NM_000875.5(IGF1R):c.*4080C>T | Growth delay due to insulin-like growth factor I resistance [RCV000271047] | uncertain significance | 15 | 98961522 | 98961522 | Human | 1 | name |
| 11606983 | CV323766 | single nucleotide variant | NM_000875.5(IGF1R):c.*4438G>A | Growth delay due to insulin-like growth factor I resistance [RCV000338296] | uncertain significance | 15 | 98961880 | 98961880 | Human | 1 | name |
| 11602769 | CV323774 | single nucleotide variant | NM_000875.5(IGF1R):c.*4458C>G | Growth delay due to insulin-like growth factor I resistance [RCV000293877]|not provided [RCV004715924] | benign | 15 | 98961900 | 98961900 | Human | 1 | name |
| 11612224 | CV323775 | single nucleotide variant | NM_000875.5(IGF1R):c.*4645C>T | Growth delay due to insulin-like growth factor I resistance [RCV000405431]|not provided [RCV004715008] | benign | 15 | 98962087 | 98962087 | Human | 1 | name |
| 11603767 | CV323786 | single nucleotide variant | NM_000875.5(IGF1R):c.*4752G>T | Growth delay due to insulin-like growth factor I resistance [RCV000303040]|not provided [RCV004715925] | benign | 15 | 98962194 | 98962194 | Human | 2 | name |
| 11603767 | CV323786 | single nucleotide variant | NM_000875.5(IGF1R):c.*4752G>T | Growth delay due to insulin-like growth factor I resistance [RCV000303040]|not provided [RCV004715925] | benign | 15 | 98962194 | 98962195 | Human | 2 | name |
| 11598929 | CV323790 | single nucleotide variant | NM_000875.5(IGF1R):c.*4816C>T | Growth delay due to insulin-like growth factor I resistance [RCV000261568] | uncertain significance | 15 | 98962258 | 98962258 | Human | 1 | name |
| 11607700 | CV323791 | single nucleotide variant | NM_000875.5(IGF1R):c.*5227C>T | Growth delay due to insulin-like growth factor I resistance [RCV000346827] | benign|uncertain significance | 15 | 98962669 | 98962669 | Human | 1 | name |
| 11608609 | CV323794 | single nucleotide variant | NM_000875.5(IGF1R):c.*5571G>A | Growth delay due to insulin-like growth factor I resistance [RCV000357392] | uncertain significance | 15 | 98963013 | 98963013 | Human | 1 | name |
| 11656229 | CV323798 | single nucleotide variant | NM_000875.5(IGF1R):c.*5693T>G | Growth delay due to insulin-like growth factor I resistance [RCV000331651] | uncertain significance | 15 | 98963135 | 98963135 | Human | 1 | name |
| 11651794 | CV323805 | single nucleotide variant | NM_000875.5(IGF1R):c.*5791G>A | Growth delay due to insulin-like growth factor I resistance [RCV000300861] | uncertain significance | 15 | 98963233 | 98963233 | Human | 1 | name |
| 11653911 | CV323806 | single nucleotide variant | NM_000875.5(IGF1R):c.*6091C>T | Growth delay due to insulin-like growth factor I resistance [RCV000313801] | uncertain significance | 15 | 98963533 | 98963533 | Human | 1 | name |
| 11609013 | CV323810 | single nucleotide variant | NM_000875.5(IGF1R):c.*6092G>A | Growth delay due to insulin-like growth factor I resistance [RCV000362695] | benign|likely benign | 15 | 98963534 | 98963534 | Human | 1 | name |
| 11599286 | CV323811 | single nucleotide variant | NM_000875.5(IGF1R):c.*6186G>A | Growth delay due to insulin-like growth factor I resistance [RCV000264320] | benign|likely benign | 15 | 98963628 | 98963628 | Human | 1 | name |
| 11605107 | CV323816 | single nucleotide variant | NM_000875.5(IGF1R):c.*6307A>G | Growth delay due to insulin-like growth factor I resistance [RCV000315807] | uncertain significance | 15 | 98963749 | 98963749 | Human | 1 | name |
| 11656986 | CV323819 | duplication | NM_000875.5(IGF1R):c.*6521dup | Growth delay due to insulin-like growth factor I resistance [RCV000338037] | uncertain significance | 15 | 98963962 | 98963963 | Human | 1 | name |
| 11611856 | CV323820 | single nucleotide variant | NM_000875.5(IGF1R):c.*6631G>C | Growth delay due to insulin-like growth factor I resistance [RCV000400302] | uncertain significance | 15 | 98964073 | 98964073 | Human | 1 | name |
| 11658011 | CV323821 | single nucleotide variant | NM_000875.5(IGF1R):c.*6700A>C | Growth delay due to insulin-like growth factor I resistance [RCV000345735] | uncertain significance | 15 | 98964142 | 98964142 | Human | 1 | name |
| 11662964 | CV323829 | single nucleotide variant | NM_000875.5(IGF1R):c.*6731G>A | Growth delay due to insulin-like growth factor I resistance [RCV000390851] | uncertain significance | 15 | 98964173 | 98964173 | Human | 1 | name |
| 11654494 | CV323839 | deletion | NM_000875.5(IGF1R):c.*6793del | Growth delay due to insulin-like growth factor I resistance [RCV000317852] | uncertain significance | 15 | 98964227 | 98964227 | Human | 1 | name |
| 11661315 | CV323840 | single nucleotide variant | NM_000875.5(IGF1R):c.*6875T>C | Growth delay due to insulin-like growth factor I resistance [RCV000374758] | uncertain significance | 15 | 98964317 | 98964317 | Human | 1 | name |
| 11645104 | CV323842 | single nucleotide variant | NM_000875.5(IGF1R):c.*6890A>T | Growth delay due to insulin-like growth factor I resistance [RCV000263813] | uncertain significance | 15 | 98964332 | 98964332 | Human | 1 | name |
| 11610861 | CV323844 | single nucleotide variant | NM_000875.5(IGF1R):c.*6901G>C | Growth delay due to insulin-like growth factor I resistance [RCV000387424] | uncertain significance | 15 | 98964343 | 98964343 | Human | 1 | name |
| 11623458 | CV333342 | microsatellite | NM_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 significance | 15 | 98957504 | 98957505 | Human | | name |
| 11659988 | CV333374 | single nucleotide variant | NM_000875.5(IGF1R):c.*1572G>A | Growth delay due to insulin-like growth factor I resistance [RCV000363195] | uncertain significance | 15 | 98959014 | 98959014 | Human | 1 | name |
| 11621622 | CV333376 | single nucleotide variant | NM_000875.5(IGF1R):c.*1945C>T | Growth delay due to insulin-like growth factor I resistance [RCV000350759] | uncertain significance | 15 | 98959387 | 98959387 | Human | 1 | name |
| 11622226 | CV333380 | single nucleotide variant | NM_000875.5(IGF1R):c.*2343C>T | Growth delay due to insulin-like growth factor I resistance [RCV000357975] | uncertain significance | 15 | 98959785 | 98959785 | Human | 1 | name |
| 11612452 | CV333381 | deletion | NM_000875.5(IGF1R):c.*2426del | Growth delay due to insulin-like growth factor I resistance [RCV000259776] | conflicting interpretations of pathogenicity | 15 | 98959855 | 98959855 | Human | 1 | name |
| 11622112 | CV333390 | single nucleotide variant | NM_000875.5(IGF1R):c.*3165T>C | Growth delay due to insulin-like growth factor I resistance [RCV000356366]|not provided [RCV004715004] | benign | 15 | 98960607 | 98960607 | Human | 1 | name |
| 11653654 | CV333392 | single nucleotide variant | NM_000875.5(IGF1R):c.*3199C>T | Growth delay due to insulin-like growth factor I resistance [RCV000312190] | uncertain significance | 15 | 98960641 | 98960641 | Human | 1 | name |
| 11614563 | CV333393 | single nucleotide variant | NM_000875.5(IGF1R):c.*3333G>A | Growth delay due to insulin-like growth factor I resistance [RCV000277842]|not provided [RCV004715923] | benign|likely benign | 15 | 98960775 | 98960775 | Human | 1 | name |
| 11620107 | CV333399 | single nucleotide variant | NM_000875.5(IGF1R):c.*3338G>A | Growth delay due to insulin-like growth factor I resistance [RCV000332861]|not provided [RCV004693256] | uncertain significance | 15 | 98960780 | 98960780 | Human | 1 | name |
| 11613612 | CV333401 | single nucleotide variant | NM_000875.5(IGF1R):c.*3440G>A | Growth delay due to insulin-like growth factor I resistance [RCV000269768] | likely benign|uncertain significance | 15 | 98960882 | 98960882 | Human | 1 | name |
| 11617104 | CV333404 | single nucleotide variant | NM_000875.5(IGF1R):c.*3616C>G | Growth delay due to insulin-like growth factor I resistance [RCV000301322] | uncertain significance | 15 | 98961058 | 98961058 | Human | 1 | name |
| 11626181 | CV333408 | duplication | NM_000875.5(IGF1R):c.*3731dup | Growth delay due to insulin-like growth factor I resistance [RCV000407990] | uncertain significance | 15 | 98961169 | 98961170 | Human | 1 | name |
| 11618517 | CV333412 | single nucleotide variant | NM_000875.5(IGF1R):c.*3766C>T | Growth delay due to insulin-like growth factor I resistance [RCV000314630]|not provided [RCV001672518] | benign | 15 | 98961208 | 98961208 | Human | 4 | name |
| 11617656 | CV333421 | single nucleotide variant | NM_000875.5(IGF1R):c.*3999A>G | Growth delay due to insulin-like growth factor I resistance [RCV000306449] | uncertain significance | 15 | 98961441 | 98961441 | Human | 1 | name |
| 11619105 | CV333423 | single nucleotide variant | NM_000875.5(IGF1R):c.*4172C>T | Growth delay due to insulin-like growth factor I resistance [RCV000321509]|not provided [RCV004715006] | benign|likely benign | 15 | 98961614 | 98961614 | Human | 1 | name |
| 11623717 | CV333428 | single nucleotide variant | NM_000875.5(IGF1R):c.*4186A>G | Growth delay due to insulin-like growth factor I resistance [RCV000376185] | uncertain significance | 15 | 98961628 | 98961628 | Human | 1 | name |
| 11623464 | CV333429 | single nucleotide variant | NM_000875.5(IGF1R):c.*4391C>T | Growth delay due to insulin-like growth factor I resistance [RCV000372912]|not provided [RCV004715007] | benign|likely benign | 15 | 98961833 | 98961833 | Human | 4 | name |
| 11621195 | CV333431 | single nucleotide variant | NM_000875.5(IGF1R):c.*4521G>A | Growth delay due to insulin-like growth factor I resistance [RCV000345402] | likely benign|uncertain significance | 15 | 98961963 | 98961963 | Human | 1 | name |
| 11617910 | CV333433 | single nucleotide variant | NM_000875.5(IGF1R):c.*4599C>T | Growth delay due to insulin-like growth factor I resistance [RCV000308989] | likely benign|uncertain significance | 15 | 98962041 | 98962041 | Human | 1 | name |
| 11622401 | CV333439 | single nucleotide variant | NM_000875.5(IGF1R):c.*4761C>T | Growth delay due to insulin-like growth factor I resistance [RCV000360033] | uncertain significance | 15 | 98962203 | 98962203 | Human | 1 | name |
| 11635470 | CV333445 | single nucleotide variant | NM_000875.5(IGF1R):c.*4815G>A | Growth delay due to insulin-like growth factor I resistance [RCV000354301] | benign|uncertain significance | 15 | 98962257 | 98962257 | Human | 1 | name |
| 11649838 | CV333447 | single nucleotide variant | NM_000875.5(IGF1R):c.*5152T>G | Growth delay due to insulin-like growth factor I resistance [RCV000289487] | uncertain significance | 15 | 98962594 | 98962594 | Human | 1 | name |
| 11625710 | CV333450 | single nucleotide variant | NM_000875.5(IGF1R):c.*5309C>T | Growth delay due to insulin-like growth factor I resistance [RCV000402092]|not provided [RCV004715010] | benign|likely benign | 15 | 98962751 | 98962751 | Human | 1 | name |
| 11615204 | CV333451 | single nucleotide variant | NM_000875.5(IGF1R):c.*5428A>G | Growth delay due to insulin-like growth factor I resistance [RCV000283755] | uncertain significance | 15 | 98962870 | 98962870 | Human | 1 | name |
| 11624982 | CV333463 | single nucleotide variant | NM_000875.5(IGF1R):c.*5458A>G | Growth delay due to insulin-like growth factor I resistance [RCV000392888] | benign|likely benign | 15 | 98962900 | 98962900 | Human | 1 | name |
| 11617036 | CV333465 | single nucleotide variant | NM_000875.5(IGF1R):c.*5570C>T | Growth delay due to insulin-like growth factor I resistance [RCV000300214] | benign|uncertain significance | 15 | 98963012 | 98963012 | Human | 1 | name |
| 11647101 | CV333467 | single nucleotide variant | NM_000875.5(IGF1R):c.*5633A>G | Growth delay due to insulin-like growth factor I resistance [RCV000274327] | uncertain significance | 15 | 98963075 | 98963075 | Human | 1 | name |
| 11660781 | CV333472 | single nucleotide variant | NM_000875.5(IGF1R):c.*5712G>A | Growth delay due to insulin-like growth factor I resistance [RCV000370009] | uncertain significance | 15 | 98963154 | 98963154 | Human | 1 | name |
| 11661411 | CV333475 | single nucleotide variant | NM_000875.5(IGF1R):c.*5735T>C | Growth delay due to insulin-like growth factor I resistance [RCV000376094] | uncertain significance | 15 | 98963177 | 98963177 | Human | 1 | name |
| 11620850 | CV333486 | single nucleotide variant | NM_000875.5(IGF1R):c.*5742C>G | Growth delay due to insulin-like growth factor I resistance [RCV000341402] | uncertain significance | 15 | 98963184 | 98963184 | Human | 1 | name |
| 11664551 | CV333495 | deletion | NM_000875.5(IGF1R):c.*5790del | Growth delay due to insulin-like growth factor I resistance [RCV000406698] | uncertain significance | 15 | 98963232 | 98963232 | Human | 1 | name |
| 11653101 | CV333502 | single nucleotide variant | NM_000875.5(IGF1R):c.*6124G>A | Growth delay due to insulin-like growth factor I resistance [RCV000309048] | uncertain significance | 15 | 98963566 | 98963566 | Human | 1 | name |
| 11623440 | CV333509 | single nucleotide variant | NM_000875.5(IGF1R):c.*6308T>C | Growth delay due to insulin-like growth factor I resistance [RCV000372734]|not provided [RCV004703691] | likely benign|uncertain significance | 15 | 98963750 | 98963750 | Human | 1 | name |
| 11614885 | CV333511 | single nucleotide variant | NM_000875.5(IGF1R):c.*6493C>T | Growth delay due to insulin-like growth factor I resistance [RCV000280628] | benign|uncertain significance | 15 | 98963935 | 98963935 | Human | 1 | name |
| 11624368 | CV333514 | single nucleotide variant | NM_000875.5(IGF1R):c.*6568A>C | Growth delay due to insulin-like growth factor I resistance [RCV000385309] | benign|uncertain significance | 15 | 98964010 | 98964010 | Human | 1 | name |
| 11616312 | CV333517 | single nucleotide variant | NM_000875.5(IGF1R):c.*6580C>T | Growth delay due to insulin-like growth factor I resistance [RCV000293556] | likely benign | 15 | 98964022 | 98964022 | Human | 1 | name |
| 11621623 | CV333523 | single nucleotide variant | NM_000875.5(IGF1R):c.*6581G>A | Growth delay due to insulin-like growth factor I resistance [RCV000350762] | uncertain significance | 15 | 98964023 | 98964023 | Human | 1 | name |
| 11618094 | CV333525 | single nucleotide variant | NM_000875.5(IGF1R):c.*6746T>G | Growth delay due to insulin-like growth factor I resistance [RCV000310690] | uncertain significance | 15 | 98964188 | 98964188 | Human | 1 | name |
| 11622276 | CV333528 | single nucleotide variant | NM_000875.5(IGF1R):c.*6770A>T | Growth delay due to insulin-like growth factor I resistance [RCV000358586] | likely benign|uncertain significance | 15 | 98964212 | 98964212 | Human | 1 | name |
| 11656518 | CV333529 | single nucleotide variant | NM_000875.5(IGF1R):c.*6974A>G | Growth delay due to insulin-like growth factor I resistance [RCV000334067] | uncertain significance | 15 | 98964416 | 98964416 | Human | 1 | name |
| 11615477 | CV340149 | single nucleotide variant | NM_000875.5(IGF1R):c.*1228G>A | Growth delay due to insulin-like growth factor I resistance [RCV000286430] | benign|uncertain significance | 15 | 98958670 | 98958670 | Human | 1 | name |
| 11626186 | CV340150 | deletion | NM_000875.5(IGF1R):c.*1268del | Growth delay due to insulin-like growth factor I resistance [RCV000408049] | benign | 15 | 98958701 | 98958701 | Human | 1 | name |
| 11618214 | CV340157 | single nucleotide variant | NM_000875.5(IGF1R):c.*1360T>A | Growth delay due to insulin-like growth factor I resistance [RCV000311954] | uncertain significance | 15 | 98958802 | 98958802 | Human | 1 | name |
| 11613991 | CV340161 | single nucleotide variant | NM_000875.5(IGF1R):c.*1600A>G | Growth delay due to insulin-like growth factor I resistance [RCV000273214] | uncertain significance | 15 | 98959042 | 98959042 | Human | 1 | name |
| 11623679 | CV340166 | single nucleotide variant | NM_000875.5(IGF1R):c.*1856C>T | Growth delay due to insulin-like growth factor I resistance [RCV000375662]|not provided [RCV004715001] | benign|likely benign | 15 | 98959298 | 98959298 | Human | 1 | name |
| 11614965 | CV340167 | single nucleotide variant | NM_000875.5(IGF1R):c.*1897G>A | Growth delay due to insulin-like growth factor I resistance [RCV000281278] | uncertain significance | 15 | 98959339 | 98959339 | Human | 1 | name |
| 11624838 | CV340168 | single nucleotide variant | NM_000875.5(IGF1R):c.*1991G>A | Growth delay due to insulin-like growth factor I resistance [RCV000391118] | uncertain significance | 15 | 98959433 | 98959433 | Human | 1 | name |
| 11620804 | CV340177 | duplication | NM_000875.5(IGF1R):c.*3020dup | Growth delay due to insulin-like growth factor I resistance [RCV000341397] | likely benign | 15 | 98960461 | 98960462 | Human | 1 | name |
| 11612708 | CV340178 | single nucleotide variant | NM_000875.5(IGF1R):c.*3197G>A | Growth delay due to insulin-like growth factor I resistance [RCV000261644] | uncertain significance | 15 | 98960639 | 98960639 | Human | 1 | name |
| 11662108 | CV340184 | single nucleotide variant | NM_000875.5(IGF1R):c.*3364T>C | Growth delay due to insulin-like growth factor I resistance [RCV000382738] | uncertain significance | 15 | 98960806 | 98960806 | Human | 1 | name |
| 11615416 | CV340185 | single nucleotide variant | NM_000875.5(IGF1R):c.*3470C>T | Growth delay due to insulin-like growth factor I resistance [RCV000285784] | uncertain significance | 15 | 98960912 | 98960912 | Human | 1 | name |
| 11661824 | CV340186 | duplication | NM_000875.5(IGF1R):c.*3471dup | Growth delay due to insulin-like growth factor I resistance [RCV000380118] | likely benign | 15 | 98960905 | 98960906 | Human | 1 | name |
| 11620387 | CV340188 | single nucleotide variant | NM_000875.5(IGF1R):c.*3489G>A | Growth delay due to insulin-like growth factor I resistance [RCV000336137] | uncertain significance | 15 | 98960931 | 98960931 | Human | 1 | name |
| 11620501 | CV340190 | single nucleotide variant | NM_000875.5(IGF1R):c.*3714C>T | Growth delay due to insulin-like growth factor I resistance [RCV000337526] | uncertain significance | 15 | 98961156 | 98961156 | Human | 1 | name |
| 11623176 | CV340195 | single nucleotide variant | NM_000875.5(IGF1R):c.*3818A>C | Growth delay due to insulin-like growth factor I resistance [RCV000369367] | uncertain significance | 15 | 98961260 | 98961260 | Human | 1 | name |
| 11613370 | CV340196 | single nucleotide variant | NM_000875.5(IGF1R):c.*4231G>A | Growth delay due to insulin-like growth factor I resistance [RCV000267885] | uncertain significance | 15 | 98961673 | 98961673 | Human | 1 | name |
| 11614626 | CV340200 | single nucleotide variant | NM_000875.5(IGF1R):c.*4404G>T | Growth delay due to insulin-like growth factor I resistance [RCV000278368] | uncertain significance | 15 | 98961846 | 98961846 | Human | 1 | name |
| 11623532 | CV340202 | single nucleotide variant | NM_000875.5(IGF1R):c.*4439G>C | Growth delay due to insulin-like growth factor I resistance [RCV000374281] | likely benign|uncertain significance | 15 | 98961881 | 98961881 | Human | 1 | name |
| 11621436 | CV340204 | single nucleotide variant | NM_000875.5(IGF1R):c.*4466G>C | Growth delay due to insulin-like growth factor I resistance [RCV000348761] | likely benign|uncertain significance | 15 | 98961908 | 98961908 | Human | 1 | name |
| 11616507 | CV340207 | single nucleotide variant | NM_000875.5(IGF1R):c.*4513A>G | Growth delay due to insulin-like growth factor I resistance [RCV000295096] | benign|uncertain significance | 15 | 98961955 | 98961955 | Human | 1 | name |
| 11622899 | CV340209 | single nucleotide variant | NM_000875.5(IGF1R):c.*4641C>T | Growth delay due to insulin-like growth factor I resistance [RCV000365934] | likely benign|uncertain significance | 15 | 98962083 | 98962083 | Human | 1 | name |
| 11613345 | CV340215 | single nucleotide variant | NM_000875.5(IGF1R):c.*4792C>T | Growth delay due to insulin-like growth factor I resistance [RCV000267647] | uncertain significance | 15 | 98962234 | 98962234 | Human | 1 | name |
| 11618624 | CV340216 | single nucleotide variant | NM_000875.5(IGF1R):c.*4814C>T | Growth delay due to insulin-like growth factor I resistance [RCV000315862]|not provided [RCV004715009] | benign|likely benign | 15 | 98962256 | 98962256 | Human | 1 | name |
| 11654616 | CV340218 | single nucleotide variant | NM_000875.5(IGF1R):c.*4861C>T | Growth delay due to insulin-like growth factor I resistance [RCV000319129] | uncertain significance | 15 | 98962303 | 98962303 | Human | 1 | name |
| 11616301 | CV340220 | single nucleotide variant | NM_000875.5(IGF1R):c.*4980G>A | Growth delay due to insulin-like growth factor I resistance [RCV000293492] | uncertain significance | 15 | 98962422 | 98962422 | Human | 1 | name |
| 11620218 | CV340224 | single nucleotide variant | NM_000875.5(IGF1R):c.*5146G>A | Growth delay due to insulin-like growth factor I resistance [RCV000334088] | benign|likely benign | 15 | 98962588 | 98962588 | Human | 1 | name |
| 11624078 | CV340225 | single nucleotide variant | NM_000875.5(IGF1R):c.*5151T>C | Growth delay due to insulin-like growth factor I resistance [RCV000381636]|not provided [RCV004715926] | benign|uncertain significance | 15 | 98962593 | 98962593 | Human | 1 | name |
| 11658982 | CV340226 | single nucleotide variant | NM_000875.5(IGF1R):c.*5515C>T | Growth delay due to insulin-like growth factor I resistance [RCV000353521] | uncertain significance | 15 | 98962957 | 98962957 | Human | 1 | name |
| 11624945 | CV340230 | single nucleotide variant | NM_000875.5(IGF1R):c.*5565A>G | Growth delay due to insulin-like growth factor I resistance [RCV000392899] | uncertain significance | 15 | 98963007 | 98963007 | Human | 1 | name |
| 11634897 | CV340239 | duplication | NM_000875.5(IGF1R):c.*5739dup | Growth delay due to insulin-like growth factor I resistance [RCV000290061]|not provided [RCV004693257] | uncertain significance | 15 | 98963172 | 98963173 | Human | 1 | name |
| 11661795 | CV340244 | deletion | NM_000875.5(IGF1R):c.*5771del | Growth delay due to insulin-like growth factor I resistance [RCV000379922] | uncertain significance | 15 | 98963213 | 98963213 | Human | 1 | name |
| 11621430 | CV340246 | single nucleotide variant | NM_000875.5(IGF1R):c.*5926T>C | Growth delay due to insulin-like growth factor I resistance [RCV000348684] | uncertain significance | 15 | 98963368 | 98963368 | Human | 1 | name |
| 11664552 | CV340248 | single nucleotide variant | NM_000875.5(IGF1R):c.*6028A>T | Growth delay due to insulin-like growth factor I resistance [RCV000406703] | uncertain significance | 15 | 98963470 | 98963470 | Human | 1 | name |
| 11646369 | CV340249 | single nucleotide variant | NM_000875.5(IGF1R):c.*6096G>A | Growth delay due to insulin-like growth factor I resistance [RCV000270348] | uncertain significance | 15 | 98963538 | 98963538 | Human | 1 | name |
| 11622942 | CV340250 | single nucleotide variant | NM_000875.5(IGF1R):c.*6166G>A | Growth delay due to insulin-like growth factor I resistance [RCV000366037] | benign|likely benign | 15 | 98963608 | 98963608 | Human | 1 | name |
| 11654973 | CV340251 | single nucleotide variant | NM_000875.5(IGF1R):c.*6232G>A | Growth delay due to insulin-like growth factor I resistance [RCV000321820] | uncertain significance | 15 | 98963674 | 98963674 | Human | 1 | name |
| 11613401 | CV340252 | single nucleotide variant | NM_000875.5(IGF1R):c.*6271C>T | Growth delay due to insulin-like growth factor I resistance [RCV000267853]|not provided [RCV004715927] | benign | 15 | 98963713 | 98963713 | Human | 1 | name |
| 11652834 | CV340253 | duplication | NM_000875.5(IGF1R):c.*6697dup | Growth delay due to insulin-like growth factor I resistance [RCV000307198] | uncertain significance | 15 | 98964131 | 98964132 | Human | 1 | name |
| 11652469 | CV340254 | single nucleotide variant | NM_000875.5(IGF1R):c.*6780G>T | Growth delay due to insulin-like growth factor I resistance [RCV000305005] | uncertain significance | 15 | 98964222 | 98964222 | Human | 1 | name |
| 11616562 | CV340255 | single nucleotide variant | NM_000875.5(IGF1R):c.*6969G>A | Growth delay due to insulin-like growth factor I resistance [RCV000295525] | uncertain significance | 15 | 98964411 | 98964411 | Human | 1 | name |
| 11619519 | CV341556 | single nucleotide variant | NM_000875.5(IGF1R):c.94+14C>T | Growth delay due to insulin-like growth factor I resistance [RCV000326609]|not provided [RCV002056473] | benign|uncertain significance | 15 | 98649689 | 98649689 | Human | 1 | name |
| 11620709 | CV341586 | single nucleotide variant | NM_000875.5(IGF1R):c.*1150G>A | Growth delay due to insulin-like growth factor I resistance [RCV000340306] | uncertain significance | 15 | 98958592 | 98958592 | Human | 1 | name |
| 11618633 | CV341588 | single nucleotide variant | NM_000875.5(IGF1R):c.*1765T>A | Growth delay due to insulin-like growth factor I resistance [RCV000316399] | likely benign|uncertain significance | 15 | 98959207 | 98959207 | Human | 1 | name |
| 11617636 | CV341591 | single nucleotide variant | NM_000875.5(IGF1R):c.*1999G>A | Growth delay due to insulin-like growth factor I resistance [RCV000306245] | uncertain significance | 15 | 98959441 | 98959441 | Human | 1 | name |
| 11617328 | CV341594 | single nucleotide variant | NM_000875.5(IGF1R):c.*2296G>C | Growth delay due to insulin-like growth factor I resistance [RCV000303160] | uncertain significance | 15 | 98959738 | 98959738 | Human | 1 | name |
| 11645910 | CV341595 | single nucleotide variant | NM_000875.5(IGF1R):c.*2344G>A | Growth delay due to insulin-like growth factor I resistance [RCV000267813] | uncertain significance | 15 | 98959786 | 98959786 | Human | 1 | name |
| 11621092 | CV341599 | single nucleotide variant | NM_000875.5(IGF1R):c.*2790C>T | Growth delay due to insulin-like growth factor I resistance [RCV000344329] | likely benign|uncertain significance | 15 | 98960232 | 98960232 | Human | 1 | name |
| 11663150 | CV341602 | single nucleotide variant | NM_000875.5(IGF1R):c.*2952C>G | Growth delay due to insulin-like growth factor I resistance [RCV000392868] | uncertain significance | 15 | 98960394 | 98960394 | Human | 1 | name |
| 11617542 | CV341604 | single nucleotide variant | NM_000875.5(IGF1R):c.*2998A>G | Growth delay due to insulin-like growth factor I resistance [RCV000305354] | uncertain significance | 15 | 98960440 | 98960440 | Human | 1 | name |
| 11616710 | CV341605 | single nucleotide variant | NM_000875.5(IGF1R):c.*3129G>T | Growth delay due to insulin-like growth factor I resistance [RCV000296881]|not provided [RCV004715003] | benign | 15 | 98960571 | 98960571 | Human | 1 | name |
| 11660497 | CV341612 | single nucleotide variant | NM_000875.5(IGF1R):c.*3327G>A | Growth delay due to insulin-like growth factor I resistance [RCV000367785] | uncertain significance | 15 | 98960769 | 98960769 | Human | 1 | name |
| 11624267 | CV341614 | single nucleotide variant | NM_000875.5(IGF1R):c.*3457C>T | Growth delay due to insulin-like growth factor I resistance [RCV000384024] | uncertain significance | 15 | 98960899 | 98960899 | Human | 1 | name |
| 11615383 | CV341615 | single nucleotide variant | NM_000875.5(IGF1R):c.*3458G>A | Growth delay due to insulin-like growth factor I resistance [RCV000285027]|not provided [RCV004715005] | benign | 15 | 98960900 | 98960900 | Human | 1 | name |
| 11657237 | CV341621 | single nucleotide variant | NM_000875.5(IGF1R):c.*3463G>A | Growth delay due to insulin-like growth factor I resistance [RCV000339559] | uncertain significance | 15 | 98960905 | 98960905 | Human | 1 | name |
| 11626216 | CV341624 | single nucleotide variant | NM_000875.5(IGF1R):c.*3584C>T | Growth delay due to insulin-like growth factor I resistance [RCV000407992] | uncertain significance | 15 | 98961026 | 98961026 | Human | 1 | name |
| 11622907 | CV341626 | single nucleotide variant | NM_000875.5(IGF1R):c.*4000C>T | Growth delay due to insulin-like growth factor I resistance [RCV000365615]|not provided [RCV001594950] | benign | 15 | 98961442 | 98961442 | Human | 3 | name |
| 11622907 | CV341626 | single nucleotide variant | NM_000875.5(IGF1R):c.*4000C>T | Growth delay due to insulin-like growth factor I resistance [RCV000365615]|not provided [RCV001594950] | benign | 15 | 98961442 | 98961443 | Human | 3 | name |
| 11619212 | CV341627 | single nucleotide variant | NM_000875.5(IGF1R):c.*4351A>G | Growth delay due to insulin-like growth factor I resistance [RCV000322962] | uncertain significance | 15 | 98961793 | 98961793 | Human | 1 | name |
| 11662989 | CV341628 | single nucleotide variant | NM_000875.5(IGF1R):c.*4494G>A | Growth delay due to insulin-like growth factor I resistance [RCV000390993] | uncertain significance | 15 | 98961936 | 98961936 | Human | 1 | name |
| 11624789 | CV341635 | single nucleotide variant | NM_000875.5(IGF1R):c.*4529T>C | Growth delay due to insulin-like growth factor I resistance [RCV000390975] | likely benign|uncertain significance | 15 | 98961971 | 98961971 | Human | 1 | name |
| 11662386 | CV341636 | single nucleotide variant | NM_000875.5(IGF1R):c.*4889T>C | Growth delay due to insulin-like growth factor I resistance [RCV000385385] | uncertain significance | 15 | 98962331 | 98962331 | Human | 1 | name |
| 11620825 | CV341638 | single nucleotide variant | NM_000875.5(IGF1R):c.*5436C>T | Growth delay due to insulin-like growth factor I resistance [RCV000341223]|not provided [RCV004715011] | benign|likely benign | 15 | 98962878 | 98962878 | Human | 1 | name |
| 11617572 | CV341639 | single nucleotide variant | NM_000875.5(IGF1R):c.*5488A>G | Growth delay due to insulin-like growth factor I resistance [RCV000305657] | uncertain significance | 15 | 98962930 | 98962930 | Human | 1 | name |
| 11619407 | CV341641 | single nucleotide variant | NM_000875.5(IGF1R):c.*5718A>T | Growth delay due to insulin-like growth factor I resistance [RCV000325068] | uncertain significance | 15 | 98963160 | 98963160 | Human | 1 | name |
| 11615277 | CV341643 | single nucleotide variant | NM_000875.5(IGF1R):c.*5739T>C | Growth delay due to insulin-like growth factor I resistance [RCV000284099] | likely benign|uncertain significance | 15 | 98963181 | 98963181 | Human | 1 | name |
| 11620354 | CV341644 | deletion | NM_000875.5(IGF1R):c.*5789del | Growth delay due to insulin-like growth factor I resistance [RCV000335738] | uncertain significance | 15 | 98963214 | 98963214 | Human | 1 | name |
| 11645614 | CV341649 | single nucleotide variant | NM_000875.5(IGF1R):c.*6771T>A | Growth delay due to insulin-like growth factor I resistance [RCV000266220] | uncertain significance | 15 | 98964213 | 98964213 | Human | 1 | name |
| 11644513 | CV341651 | duplication | NM_000875.5(IGF1R):c.*6793dup | Growth delay due to insulin-like growth factor I resistance [RCV000260360]|not provided [RCV003391146] | likely benign|uncertain significance | 15 | 98964226 | 98964227 | Human | 1 | name |
| 11656075 | CV341653 | single nucleotide variant | NM_000875.5(IGF1R):c.*6897A>C | Growth delay due to insulin-like growth factor I resistance [RCV000330567] | uncertain significance | 15 | 98964339 | 98964339 | Human | 1 | name |
| 597892640 | CV3823438 | single nucleotide variant | NM_000875.5(IGF1R):c.953+3C>T | not provided [RCV005167534] | uncertain significance | 15 | 98891640 | 98891640 | Human | | name |
| 28892138 | CV874374 | single nucleotide variant | NM_000875.5(IGF1R):c.*1015C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121233] | uncertain significance | 15 | 98958457 | 98958457 | Human | 1 | name |
| 28892143 | CV874375 | single nucleotide variant | NM_000875.5(IGF1R):c.*1064A>G | Growth delay due to insulin-like growth factor I resistance [RCV001121234] | uncertain significance | 15 | 98958506 | 98958506 | Human | 1 | name |
| 28876564 | CV874376 | single nucleotide variant | NM_000875.5(IGF1R):c.*1152G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116320] | benign | 15 | 98958594 | 98958594 | Human | 1 | name |
| 28876569 | CV874377 | single nucleotide variant | NM_000875.5(IGF1R):c.*1186G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116321] | uncertain significance | 15 | 98958628 | 98958628 | Human | 1 | name |
| 28876573 | CV874378 | single nucleotide variant | NM_000875.5(IGF1R):c.*1287C>G | Growth delay due to insulin-like growth factor I resistance [RCV001116322] | uncertain significance | 15 | 98958729 | 98958729 | Human | 1 | name |
| 28881220 | CV874379 | single nucleotide variant | NM_000875.5(IGF1R):c.*1383C>T | Growth delay due to insulin-like growth factor I resistance [RCV001117762] | uncertain significance | 15 | 98958825 | 98958825 | Human | 1 | name |
| 28881225 | CV874380 | single nucleotide variant | NM_000875.5(IGF1R):c.*1406G>A | Growth delay due to insulin-like growth factor I resistance [RCV001117763] | uncertain significance | 15 | 98958848 | 98958848 | Human | 1 | name |
| 28881230 | CV874381 | single nucleotide variant | NM_000875.5(IGF1R):c.*1512C>A | Growth delay due to insulin-like growth factor I resistance [RCV001117764] | uncertain significance | 15 | 98958954 | 98958954 | Human | 1 | name |
| 28881234 | CV874382 | single nucleotide variant | NM_000875.5(IGF1R):c.*1543A>G | Growth delay due to insulin-like growth factor I resistance [RCV001117765] | likely benign | 15 | 98958985 | 98958985 | Human | 1 | name |
| 28886355 | CV874383 | single nucleotide variant | NM_000875.5(IGF1R):c.*1548G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119319] | uncertain significance | 15 | 98958990 | 98958990 | Human | 1 | name |
| 28886360 | CV874384 | single nucleotide variant | NM_000875.5(IGF1R):c.*1555C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119320] | uncertain significance | 15 | 98958997 | 98958997 | Human | 1 | name |
| 28886363 | CV874385 | single nucleotide variant | NM_000875.5(IGF1R):c.*1578C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119321] | uncertain significance | 15 | 98959020 | 98959020 | Human | 1 | name |
| 28886368 | CV874386 | single nucleotide variant | NM_000875.5(IGF1R):c.*1617T>C | Growth delay due to insulin-like growth factor I resistance [RCV001119322] | uncertain significance | 15 | 98959059 | 98959059 | Human | 1 | name |
| 28886373 | CV874387 | single nucleotide variant | NM_000875.5(IGF1R):c.*1671G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119323] | uncertain significance | 15 | 98959113 | 98959113 | Human | 1 | name |
| 28892420 | CV874388 | single nucleotide variant | NM_000875.5(IGF1R):c.*1763A>T | Growth delay due to insulin-like growth factor I resistance [RCV001121339] | uncertain significance | 15 | 98959205 | 98959205 | Human | 1 | name |
| 28892425 | CV874389 | single nucleotide variant | NM_000875.5(IGF1R):c.*1767T>G | Growth delay due to insulin-like growth factor I resistance [RCV001121340] | uncertain significance | 15 | 98959209 | 98959209 | Human | 1 | name |
| 28892427 | CV874390 | single nucleotide variant | NM_000875.5(IGF1R):c.*1799C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121341] | uncertain significance | 15 | 98959241 | 98959241 | Human | 1 | name |
| 28892430 | CV874391 | single nucleotide variant | NM_000875.5(IGF1R):c.*1823C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121342] | uncertain significance | 15 | 98959265 | 98959265 | Human | 1 | name |
| 28876888 | CV874392 | single nucleotide variant | NM_000875.5(IGF1R):c.*1885G>C | Growth delay due to insulin-like growth factor I resistance [RCV001116421]|not provided [RCV003393853] | benign|uncertain significance | 15 | 98959327 | 98959327 | Human | 1 | name |
| 28876894 | CV874393 | single nucleotide variant | NM_000875.5(IGF1R):c.*1932C>T | Growth delay due to insulin-like growth factor I resistance [RCV001116422] | uncertain significance | 15 | 98959374 | 98959374 | Human | 1 | name |
| 28881550 | CV874394 | single nucleotide variant | NM_000875.5(IGF1R):c.*2087G>A | Growth delay due to insulin-like growth factor I resistance [RCV001117869] | uncertain significance | 15 | 98959529 | 98959529 | Human | 1 | name |
| 28881552 | CV874395 | single nucleotide variant | NM_000875.5(IGF1R):c.*2128C>T | Growth delay due to insulin-like growth factor I resistance [RCV001117870] | uncertain significance | 15 | 98959570 | 98959570 | Human | 1 | name |
| 28881556 | CV874396 | single nucleotide variant | NM_000875.5(IGF1R):c.*2212G>A | Growth delay due to insulin-like growth factor I resistance [RCV001117871]|not provided [RCV004715396] | benign | 15 | 98959654 | 98959654 | Human | 1 | name |
| 28886736 | CV874397 | single nucleotide variant | NM_000875.5(IGF1R):c.*2414A>T | Growth delay due to insulin-like growth factor I resistance [RCV001119424] | uncertain significance | 15 | 98959856 | 98959856 | Human | 1 | name |
| 28886743 | CV874398 | single nucleotide variant | NM_000875.5(IGF1R):c.*2426A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119425] | uncertain significance | 15 | 98959868 | 98959868 | Human | 1 | name |
| 28886887 | CV874399 | single nucleotide variant | NM_000875.5(IGF1R):c.*2571A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119426] | uncertain significance | 15 | 98960013 | 98960013 | Human | 1 | name |
| 28886884 | CV874400 | single nucleotide variant | NM_000875.5(IGF1R):c.*2595G>T | Growth delay due to insulin-like growth factor I resistance [RCV001119427] | uncertain significance | 15 | 98960037 | 98960037 | Human | 1 | name |
| 28886880 | CV874401 | single nucleotide variant | NM_000875.5(IGF1R):c.*2596T>G | Growth delay due to insulin-like growth factor I resistance [RCV001119428] | uncertain significance | 15 | 98960038 | 98960038 | Human | 1 | name |
| 28886875 | CV874402 | single nucleotide variant | NM_000875.5(IGF1R):c.*2639A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119429] | uncertain significance | 15 | 98960081 | 98960081 | Human | 1 | name |
| 28892644 | CV874403 | single nucleotide variant | NM_000875.5(IGF1R):c.*2685T>G | Growth delay due to insulin-like growth factor I resistance [RCV001121416] | uncertain significance | 15 | 98960127 | 98960127 | Human | 1 | name |
| 28892645 | CV874404 | single nucleotide variant | NM_000875.5(IGF1R):c.*2808T>G | Growth delay due to insulin-like growth factor I resistance [RCV001121417] | uncertain significance | 15 | 98960250 | 98960250 | Human | 1 | name |
| 28892651 | CV874405 | single nucleotide variant | NM_000875.5(IGF1R):c.*2812A>T | Growth delay due to insulin-like growth factor I resistance [RCV001121418] | uncertain significance | 15 | 98960254 | 98960254 | Human | 1 | name |
| 28892655 | CV874406 | single nucleotide variant | NM_000875.5(IGF1R):c.*2880C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121419] | uncertain significance | 15 | 98960322 | 98960322 | Human | 1 | name |
| 28877262 | CV874407 | single nucleotide variant | NM_000875.5(IGF1R):c.*3041A>G | Growth delay due to insulin-like growth factor I resistance [RCV001116522] | uncertain significance | 15 | 98960483 | 98960483 | Human | 1 | name |
| 28877267 | CV874408 | single nucleotide variant | NM_000875.5(IGF1R):c.*3072G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116523] | likely benign | 15 | 98960514 | 98960514 | Human | 1 | name |
| 28877270 | CV874409 | single nucleotide variant | NM_000875.5(IGF1R):c.*3113A>C | Growth delay due to insulin-like growth factor I resistance [RCV001116524] | uncertain significance | 15 | 98960555 | 98960555 | Human | 1 | name |
| 28877274 | CV874410 | single nucleotide variant | NM_000875.5(IGF1R):c.*3192C>T | Growth delay due to insulin-like growth factor I resistance [RCV001116525] | likely benign | 15 | 98960634 | 98960634 | Human | 1 | name |
| 28881917 | CV874411 | single nucleotide variant | NM_000875.5(IGF1R):c.*3200C>T | Growth delay due to insulin-like growth factor I resistance [RCV001117974] | uncertain significance | 15 | 98960642 | 98960642 | Human | 1 | name |
| 28881922 | CV874412 | single nucleotide variant | NM_000875.5(IGF1R):c.*3250G>A | Growth delay due to insulin-like growth factor I resistance [RCV001117975] | likely benign | 15 | 98960692 | 98960692 | Human | 1 | name |
| 28881924 | CV874413 | single nucleotide variant | NM_000875.5(IGF1R):c.*3252G>A | Growth delay due to insulin-like growth factor I resistance [RCV001117976] | uncertain significance | 15 | 98960694 | 98960694 | Human | 1 | name |
| 28881929 | CV874414 | single nucleotide variant | NM_000875.5(IGF1R):c.*3299C>A | Growth delay due to insulin-like growth factor I resistance [RCV001117977] | uncertain significance | 15 | 98960741 | 98960741 | Human | 1 | name |
| 28881935 | CV874415 | single nucleotide variant | NM_000875.5(IGF1R):c.*3302A>G | Growth delay due to insulin-like growth factor I resistance [RCV001117978] | uncertain significance | 15 | 98960744 | 98960744 | Human | 1 | name |
| 28887053 | CV874416 | single nucleotide variant | NM_000875.5(IGF1R):c.*3380C>G | Growth delay due to insulin-like growth factor I resistance [RCV001119515] | uncertain significance | 15 | 98960822 | 98960822 | Human | 1 | name |
| 28887057 | CV874417 | single nucleotide variant | NM_000875.5(IGF1R):c.*3420G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119516] | uncertain significance | 15 | 98960862 | 98960862 | Human | 1 | name |
| 28892927 | CV874418 | single nucleotide variant | NM_000875.5(IGF1R):c.*3471C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121515] | likely benign | 15 | 98960913 | 98960913 | Human | 1 | name |
| 28892930 | CV874419 | single nucleotide variant | NM_000875.5(IGF1R):c.*3526G>A | Growth delay due to insulin-like growth factor I resistance [RCV001121516] | uncertain significance | 15 | 98960968 | 98960968 | Human | 1 | name |
| 28892933 | CV874420 | single nucleotide variant | NM_000875.5(IGF1R):c.*3563T>C | Growth delay due to insulin-like growth factor I resistance [RCV001121517] | uncertain significance | 15 | 98961005 | 98961005 | Human | 1 | name |
| 28877601 | CV874421 | single nucleotide variant | NM_000875.5(IGF1R):c.*3620A>G | Growth delay due to insulin-like growth factor I resistance [RCV001116628] | uncertain significance | 15 | 98961062 | 98961062 | Human | 1 | name |
| 28877604 | CV874422 | single nucleotide variant | NM_000875.5(IGF1R):c.*3624C>A | Growth delay due to insulin-like growth factor I resistance [RCV001116629] | uncertain significance | 15 | 98961066 | 98961066 | Human | 1 | name |
| 28877606 | CV874423 | single nucleotide variant | NM_000875.5(IGF1R):c.*3641G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116630] | uncertain significance | 15 | 98961083 | 98961083 | Human | 1 | name |
| 28877610 | CV874424 | single nucleotide variant | NM_000875.5(IGF1R):c.*3653C>A | Growth delay due to insulin-like growth factor I resistance [RCV001116631] | likely benign | 15 | 98961095 | 98961095 | Human | 1 | name |
| 28877614 | CV874425 | single nucleotide variant | NM_000875.5(IGF1R):c.*3664G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116632] | uncertain significance | 15 | 98961106 | 98961106 | Human | 1 | name |
| 28877616 | CV874426 | single nucleotide variant | NM_000875.5(IGF1R):c.*3688G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116633] | uncertain significance | 15 | 98961130 | 98961130 | Human | 1 | name |
| 28882253 | CV874427 | single nucleotide variant | NM_000875.5(IGF1R):c.*3793C>G | Growth delay due to insulin-like growth factor I resistance [RCV001118074] | uncertain significance | 15 | 98961235 | 98961235 | Human | 1 | name |
| 28882258 | CV874428 | single nucleotide variant | NM_000875.5(IGF1R):c.*3855G>T | Growth delay due to insulin-like growth factor I resistance [RCV001118075] | uncertain significance | 15 | 98961297 | 98961297 | Human | 1 | name |
| 28882263 | CV874429 | single nucleotide variant | NM_000875.5(IGF1R):c.*3980C>T | Growth delay due to insulin-like growth factor I resistance [RCV001118076] | uncertain significance | 15 | 98961422 | 98961422 | Human | 1 | name |
| 28887349 | CV874430 | single nucleotide variant | NM_000875.5(IGF1R):c.*4149C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119616] | uncertain significance | 15 | 98961591 | 98961591 | Human | 1 | name |
| 28887354 | CV874431 | single nucleotide variant | NM_000875.5(IGF1R):c.*4329G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119617] | benign | 15 | 98961771 | 98961771 | Human | 1 | name |
| 28887356 | CV874432 | single nucleotide variant | NM_000875.5(IGF1R):c.*4349A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119618] | uncertain significance | 15 | 98961791 | 98961791 | Human | 1 | name |
| 28893208 | CV874433 | single nucleotide variant | NM_000875.5(IGF1R):c.*4392G>A | Growth delay due to insulin-like growth factor I resistance [RCV001121609] | uncertain significance | 15 | 98961834 | 98961834 | Human | 1 | name |
| 28893213 | CV874434 | single nucleotide variant | NM_000875.5(IGF1R):c.*4403C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121610] | likely benign | 15 | 98961845 | 98961845 | Human | 1 | name |
| 28893216 | CV874435 | single nucleotide variant | NM_000875.5(IGF1R):c.*4406C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121611] | uncertain significance | 15 | 98961848 | 98961848 | Human | 1 | name |
| 28893221 | CV874436 | single nucleotide variant | NM_000875.5(IGF1R):c.*4437C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121612] | uncertain significance | 15 | 98961879 | 98961879 | Human | 1 | name |
| 28877930 | CV874437 | single nucleotide variant | NM_000875.5(IGF1R):c.*4445C>T | Growth delay due to insulin-like growth factor I resistance [RCV001116735] | uncertain significance | 15 | 98961887 | 98961887 | Human | 1 | name |
| 28877936 | CV874438 | single nucleotide variant | NM_000875.5(IGF1R):c.*4512G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116736] | benign | 15 | 98961954 | 98961954 | Human | 1 | name |
| 28882594 | CV874439 | single nucleotide variant | NM_000875.5(IGF1R):c.*4552T>A | Growth delay due to insulin-like growth factor I resistance [RCV001118182] | uncertain significance | 15 | 98961994 | 98961994 | Human | 1 | name |
| 28882597 | CV874440 | single nucleotide variant | NM_000875.5(IGF1R):c.*4691T>C | Growth delay due to insulin-like growth factor I resistance [RCV001118183] | uncertain significance | 15 | 98962133 | 98962133 | Human | 1 | name |
| 28882602 | CV874441 | single nucleotide variant | NM_000875.5(IGF1R):c.*4762G>A | Growth delay due to insulin-like growth factor I resistance [RCV001118184] | likely benign | 15 | 98962204 | 98962204 | Human | 1 | name |
| 28887784 | CV874442 | single nucleotide variant | NM_000875.5(IGF1R):c.*4765G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119734] | uncertain significance | 15 | 98962207 | 98962207 | Human | 1 | name |
| 28887787 | CV874443 | single nucleotide variant | NM_000875.5(IGF1R):c.*4817C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119735] | uncertain significance | 15 | 98962259 | 98962259 | Human | 1 | name |
| 28887793 | CV874444 | single nucleotide variant | NM_000875.5(IGF1R):c.*4835A>T | Growth delay due to insulin-like growth factor I resistance [RCV001119736] | uncertain significance | 15 | 98962277 | 98962277 | Human | 1 | name |
| 28887797 | CV874445 | single nucleotide variant | NM_000875.5(IGF1R):c.*4857A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119737] | uncertain significance | 15 | 98962299 | 98962299 | Human | 1 | name |
| 28893471 | CV874446 | single nucleotide variant | NM_000875.5(IGF1R):c.*4920C>A | Growth delay due to insulin-like growth factor I resistance [RCV001121710] | uncertain significance | 15 | 98962362 | 98962362 | Human | 1 | name |
| 28893473 | CV874447 | single nucleotide variant | NM_000875.5(IGF1R):c.*5002T>C | Growth delay due to insulin-like growth factor I resistance [RCV001121711] | likely benign | 15 | 98962444 | 98962444 | Human | 1 | name |
| 28893476 | CV874448 | single nucleotide variant | NM_000875.5(IGF1R):c.*5092C>G | Growth delay due to insulin-like growth factor I resistance [RCV001121712] | uncertain significance | 15 | 98962534 | 98962534 | Human | 1 | name |
| 28893479 | CV874449 | single nucleotide variant | NM_000875.5(IGF1R):c.*5144G>A | Growth delay due to insulin-like growth factor I resistance [RCV001121713] | uncertain significance | 15 | 98962586 | 98962586 | Human | 1 | name |
| 28878268 | CV874450 | single nucleotide variant | NM_000875.5(IGF1R):c.*5157A>G | Growth delay due to insulin-like growth factor I resistance [RCV001116847]|not provided [RCV004715393] | benign | 15 | 98962599 | 98962599 | Human | 1 | name |
| 28878271 | CV874451 | single nucleotide variant | NM_000875.5(IGF1R):c.*5166C>T | Growth delay due to insulin-like growth factor I resistance [RCV001116848] | likely benign | 15 | 98962608 | 98962608 | Human | 1 | name |
| 28878273 | CV874452 | single nucleotide variant | NM_000875.5(IGF1R):c.*5187G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116849] | uncertain significance | 15 | 98962629 | 98962629 | Human | 1 | name |
| 28878278 | CV874453 | single nucleotide variant | NM_000875.5(IGF1R):c.*5326C>T | Growth delay due to insulin-like growth factor I resistance [RCV001116850] | likely benign | 15 | 98962768 | 98962768 | Human | 1 | name |
| 28882979 | CV874454 | single nucleotide variant | NM_000875.5(IGF1R):c.*5404G>A | Growth delay due to insulin-like growth factor I resistance [RCV001118299] | uncertain significance | 15 | 98962846 | 98962846 | Human | 1 | name |
| 28882983 | CV874455 | single nucleotide variant | NM_000875.5(IGF1R):c.*5468C>T | Growth delay due to insulin-like growth factor I resistance [RCV001118300] | uncertain significance | 15 | 98962910 | 98962910 | Human | 1 | name |
| 28882986 | CV874456 | single nucleotide variant | NM_000875.5(IGF1R):c.*5481C>T | Growth delay due to insulin-like growth factor I resistance [RCV001118301] | uncertain significance | 15 | 98962923 | 98962923 | Human | 1 | name |
| 28888110 | CV874457 | single nucleotide variant | NM_000875.5(IGF1R):c.*5516G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119829] | uncertain significance | 15 | 98962958 | 98962958 | Human | 1 | name |
| 28888116 | CV874458 | single nucleotide variant | NM_000875.5(IGF1R):c.*5518G>C | Growth delay due to insulin-like growth factor I resistance [RCV001119830] | uncertain significance | 15 | 98962960 | 98962960 | Human | 1 | name |
| 28888120 | CV874459 | single nucleotide variant | NM_000875.5(IGF1R):c.*5527C>T | Growth delay due to insulin-like growth factor I resistance [RCV001119831] | uncertain significance | 15 | 98962969 | 98962969 | Human | 1 | name |
| 28888125 | CV874460 | single nucleotide variant | NM_000875.5(IGF1R):c.*5528G>A | Growth delay due to insulin-like growth factor I resistance [RCV001119832] | benign | 15 | 98962970 | 98962970 | Human | 1 | name |
| 28893719 | CV874461 | single nucleotide variant | NM_000875.5(IGF1R):c.*5639A>G | Growth delay due to insulin-like growth factor I resistance [RCV001121815] | uncertain significance | 15 | 98963081 | 98963081 | Human | 1 | name |
| 28893722 | CV874462 | single nucleotide variant | NM_000875.5(IGF1R):c.*5708T>C | Growth delay due to insulin-like growth factor I resistance [RCV001121816] | uncertain significance | 15 | 98963150 | 98963150 | Human | 1 | name |
| 28873952 | CV874463 | single nucleotide variant | NM_000875.5(IGF1R):c.*5749T>C | Growth delay due to insulin-like growth factor I resistance [RCV001115243] | uncertain significance | 15 | 98963191 | 98963191 | Human | 1 | name |
| 28873956 | CV874464 | single nucleotide variant | NM_000875.5(IGF1R):c.*5762T>G | Growth delay due to insulin-like growth factor I resistance [RCV001115244] | uncertain significance | 15 | 98963204 | 98963204 | Human | 1 | name |
| 28873960 | CV874465 | single nucleotide variant | NM_000875.5(IGF1R):c.*5865T>G | Growth delay due to insulin-like growth factor I resistance [RCV001115245] | uncertain significance | 15 | 98963307 | 98963307 | Human | 1 | name |
| 28873964 | CV874466 | single nucleotide variant | NM_000875.5(IGF1R):c.*5877A>G | Growth delay due to insulin-like growth factor I resistance [RCV001115246] | uncertain significance | 15 | 98963319 | 98963319 | Human | 1 | name |
| 28873967 | CV874467 | single nucleotide variant | NM_000875.5(IGF1R):c.*5909G>A | Growth delay due to insulin-like growth factor I resistance [RCV001115247]|not provided [RCV004706014] | likely benign | 15 | 98963351 | 98963351 | Human | 1 | name |
| 28883278 | CV874468 | single nucleotide variant | NM_000875.5(IGF1R):c.*6069G>A | Growth delay due to insulin-like growth factor I resistance [RCV001118398]|not provided [RCV004715398] | benign | 15 | 98963511 | 98963511 | Human | 1 | name |
| 28883280 | CV874469 | single nucleotide variant | NM_000875.5(IGF1R):c.*6076A>C | Growth delay due to insulin-like growth factor I resistance [RCV001118399] | uncertain significance | 15 | 98963518 | 98963518 | Human | 1 | name |
| 28883282 | CV874470 | single nucleotide variant | NM_000875.5(IGF1R):c.*6095C>G | Growth delay due to insulin-like growth factor I resistance [RCV001118400] | uncertain significance | 15 | 98963537 | 98963537 | Human | 1 | name |
| 28883288 | CV874471 | single nucleotide variant | NM_000875.5(IGF1R):c.*6123C>T | Growth delay due to insulin-like growth factor I resistance [RCV001118401] | uncertain significance | 15 | 98963565 | 98963565 | Human | 1 | name |
| 28888429 | CV874472 | single nucleotide variant | NM_000875.5(IGF1R):c.*6144A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119934] | uncertain significance | 15 | 98963586 | 98963586 | Human | 1 | name |
| 28888436 | CV874473 | single nucleotide variant | NM_000875.5(IGF1R):c.*6175A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119935] | uncertain significance | 15 | 98963617 | 98963617 | Human | 1 | name |
| 28888442 | CV874474 | single nucleotide variant | NM_000875.5(IGF1R):c.*6306T>A | Growth delay due to insulin-like growth factor I resistance [RCV001119936] | uncertain significance | 15 | 98963748 | 98963748 | Human | 1 | name |
| 28893981 | CV874475 | single nucleotide variant | NM_000875.5(IGF1R):c.*6329G>A | Growth delay due to insulin-like growth factor I resistance [RCV001121914] | likely benign | 15 | 98963771 | 98963771 | Human | 1 | name |
| 28893984 | CV874476 | single nucleotide variant | NM_000875.5(IGF1R):c.*6345A>G | Growth delay due to insulin-like growth factor I resistance [RCV001121915] | uncertain significance | 15 | 98963787 | 98963787 | Human | 1 | name |
| 28893987 | CV874477 | single nucleotide variant | NM_000875.5(IGF1R):c.*6499A>G | Growth delay due to insulin-like growth factor I resistance [RCV001121916] | uncertain significance | 15 | 98963941 | 98963941 | Human | 1 | name |
| 28893991 | CV874478 | single nucleotide variant | NM_000875.5(IGF1R):c.*6540C>A | Growth delay due to insulin-like growth factor I resistance [RCV001121917] | uncertain significance | 15 | 98963982 | 98963982 | Human | 1 | name |
| 28893993 | CV874479 | single nucleotide variant | NM_000875.5(IGF1R):c.*6578A>G | Growth delay due to insulin-like growth factor I resistance [RCV001121918] | uncertain significance | 15 | 98964020 | 98964020 | Human | 1 | name |
| 28874180 | CV874480 | single nucleotide variant | NM_000875.5(IGF1R):c.*6638G>T | Growth delay due to insulin-like growth factor I resistance [RCV001115338] | uncertain significance | 15 | 98964080 | 98964080 | Human | 1 | name |
| 28883591 | CV874481 | single nucleotide variant | NM_000875.5(IGF1R):c.*6933C>T | Growth delay due to insulin-like growth factor I resistance [RCV001118491] | uncertain significance | 15 | 98964375 | 98964375 | Human | 1 | name |
| 28883595 | CV874482 | single nucleotide variant | NM_000875.5(IGF1R):c.*6942C>T | Growth delay due to insulin-like growth factor I resistance [RCV001118492] | likely benign | 15 | 98964384 | 98964384 | Human | 1 | name |
| 28888713 | CV874483 | single nucleotide variant | NM_000875.5(IGF1R):c.*7011A>C | Growth delay due to insulin-like growth factor I resistance [RCV001120013] | uncertain significance | 15 | 98964453 | 98964453 | Human | 1 | name |
| 126725442 | CV1018018 | single nucleotide variant | NM_000875.5(IGF1R):c.3722+5G>A | Growth delay due to insulin-like growth factor I resistance [RCV001331400]|not provided [RCV002469375] | uncertain significance | 15 | 98948713 | 98948713 | Human | 1 | name |
| 151840861 | CV1464180 | single nucleotide variant | NM_000875.5(IGF1R):c.2486-3C>A | not provided [RCV001936095] | uncertain significance | 15 | 98923873 | 98923873 | Human | | name |
| 152093717 | CV1561226 | single nucleotide variant | NM_000875.5(IGF1R):c.640+20C>T | not provided [RCV002094546] | benign | 15 | 98708127 | 98708127 | Human | | name |
| 155267928 | CV1701459 | duplication | NM_000875.5(IGF1R):c.3457+1dup | Growth delay due to insulin-like growth factor I resistance [RCV002283685] | likely pathogenic | 15 | 98939359 | 98939360 | Human | 1 | name |
| 155803078 | CV1857928 | single nucleotide variant | NM_000875.5(IGF1R):c.1103-6A>G | not provided [RCV002461778] | uncertain significance | 15 | 98899471 | 98899471 | Human | | name |
| 156311415 | CV1899940 | single nucleotide variant | NM_000875.5(IGF1R):c.1997-7C>T | not provided [RCV003088471]|not specified [RCV004526228] | likely benign | 15 | 98916665 | 98916665 | Human | | name |
| 156376853 | CV1956702 | single nucleotide variant | NM_000875.5(IGF1R):c.954-14T>G | not provided [RCV002582874] | likely benign | 15 | 98896743 | 98896743 | Human | | name |
| 156382097 | CV1960935 | single nucleotide variant | NM_000875.5(IGF1R):c.3722+4C>T | not provided [RCV002583248] | uncertain significance | 15 | 98948712 | 98948712 | Human | | name |
| 156410066 | CV1962095 | single nucleotide variant | NM_000875.5(IGF1R):c.953+18G>A | not provided [RCV002587035] | likely benign | 15 | 98891655 | 98891655 | Human | | name |
| 156233032 | CV2039928 | single nucleotide variant | NM_000875.5(IGF1R):c.3187-3C>T | not provided [RCV002805387] | uncertain significance | 15 | 98935313 | 98935313 | Human | | name |
| 155942658 | CV2072288 | single nucleotide variant | NM_000875.5(IGF1R):c.953+14A>T | not provided [RCV002861881] | likely benign | 15 | 98891651 | 98891651 | Human | | name |
| 156122209 | CV2078185 | single nucleotide variant | NM_000875.5(IGF1R):c.2622+9G>T | not provided [RCV002889607] | likely benign | 15 | 98924021 | 98924021 | Human | | name |
| 156030196 | CV2093317 | single nucleotide variant | NM_000875.5(IGF1R):c.3723-6C>T | not provided [RCV002885368] | uncertain significance | 15 | 98957055 | 98957055 | Human | | name |
| 11638073 | CV265766 | single nucleotide variant | NM_000875.5(IGF1R):c.1102+6T>C | not provided [RCV000295992] | uncertain significance | 15 | 98896911 | 98896911 | Human | | name |
| 11633377 | CV266464 | single nucleotide variant | NM_000875.5(IGF1R):c.3187-2A>T | not provided [RCV000333916] | likely pathogenic | 15 | 98935314 | 98935314 | Human | | name |
| 401904527 | CV2814515 | single nucleotide variant | NM_000875.5(IGF1R):c.2201+8G>A | not provided [RCV003395055] | uncertain significance | 15 | 98916884 | 98916884 | Human | | name |
| 405037468 | CV2932838 | single nucleotide variant | NM_000875.5(IGF1R):c.3187-2A>G | not provided [RCV003578774] | likely pathogenic | 15 | 98935314 | 98935314 | Human | | name |
| 405126382 | CV2939516 | single nucleotide variant | NM_000875.5(IGF1R):c.2485+3A>G | not provided [RCV003671995] | uncertain significance | 15 | 98922434 | 98922434 | Human | | name |
| 402511168 | CV2948293 | single nucleotide variant | NM_000875.5(IGF1R):c.1996+8T>C | not provided [RCV003662576] | likely benign | 15 | 98916139 | 98916139 | Human | | name |
| 405248108 | CV2984476 | single nucleotide variant | NM_000875.5(IGF1R):c.1248-3T>C | not provided [RCV003721012] | uncertain significance | 15 | 98908682 | 98908682 | Human | | name |
| 405235279 | CV3040844 | single nucleotide variant | NM_000875.5(IGF1R):c.3458-3C>T | not provided [RCV003712237] | uncertain significance | 15 | 98942920 | 98942920 | Human | | name |
| 405210640 | CV3059018 | single nucleotide variant | NM_000875.5(IGF1R):c.1829-4C>T | not provided [RCV003731955] | likely benign|uncertain significance | 15 | 98915960 | 98915960 | Human | | name |
| 405154273 | CV3068752 | single nucleotide variant | NM_000875.5(IGF1R):c.953+10G>A | not provided [RCV003726635] | likely benign | 15 | 98891647 | 98891647 | Human | | name |
| 405191753 | CV3070006 | single nucleotide variant | NM_000875.5(IGF1R):c.2622+8T>G | not provided [RCV003729785] | likely benign | 15 | 98924020 | 98924020 | Human | | name |
| 405140033 | CV3125784 | single nucleotide variant | NM_000875.5(IGF1R):c.640+12G>T | not provided [RCV003816699] | likely benign | 15 | 98708119 | 98708119 | Human | | name |
| 405236216 | CV3168993 | deletion | NM_000875.5(IGF1R):c.954-12del | not provided [RCV003866272] | likely benign | 15 | 98896745 | 98896745 | Human | | name |
| 405654420 | CV3228232 | single nucleotide variant | NM_000875.5(IGF1R):c.1829-6C>T | not specified [RCV003994967] | uncertain significance | 15 | 98915958 | 98915958 | Human | | name |
| 11615532 | CV333329 | single nucleotide variant | NM_000875.5(IGF1R):c.641-14C>T | Growth delay due to insulin-like growth factor I resistance [RCV000286560]|not provided [RCV002056474] | likely benign|uncertain significance | 15 | 98891311 | 98891311 | Human | 1 | name |
| 11623265 | CV340118 | single nucleotide variant | NM_000875.5(IGF1R):c.1463-5C>A | Growth delay due to insulin-like growth factor I resistance [RCV000370865]|IGF1R-related disorder [RCV004537793]|not provided [RCV000514198] | benign|likely benign | 15 | 98911310 | 98911310 | Human | 1 | name , alternate_id |
| 408377748 | CV3503118 | single nucleotide variant | NM_000875.5(IGF1R):c.1589+1G>A | not provided [RCV004727689] | uncertain significance | 15 | 98911442 | 98911442 | Human | | name |
| 596925875 | CV3530610 | single nucleotide variant | NM_000875.5(IGF1R):c.3457+1G>A | not provided [RCV004778195] | pathogenic | 15 | 98939361 | 98939361 | Human | | name |
| 12849961 | CV373901 | single nucleotide variant | NM_000875.5(IGF1R):c.1590-1G>C | not provided [RCV000439164] | pathogenic | 15 | 98913043 | 98913043 | Human | | name |
| 597888293 | CV3739242 | single nucleotide variant | NM_000875.5(IGF1R):c.953+16A>C | not provided [RCV005070789] | likely benign | 15 | 98891653 | 98891653 | Human | | name |
| 597861853 | CV3745127 | single nucleotide variant | NM_000875.5(IGF1R):c.641-12C>G | not provided [RCV005067483] | likely benign | 15 | 98891313 | 98891313 | Human | | name |
| 597849996 | CV3746759 | single nucleotide variant | NM_000875.5(IGF1R):c.1997-6G>C | not provided [RCV005066156] | uncertain significance | 15 | 98916666 | 98916666 | Human | | name |
| 12840890 | CV376968 | single nucleotide variant | NM_000875.5(IGF1R):c.2201+5C>G | not specified [RCV000431565] | likely benign | 15 | 98916881 | 98916881 | Human | | name |
| 597876634 | CV3810049 | single nucleotide variant | NM_000875.5(IGF1R):c.641-19C>G | not provided [RCV005151770] | likely benign | 15 | 98891306 | 98891306 | Human | | name |
| 597884090 | CV3819225 | single nucleotide variant | NM_000875.5(IGF1R):c.1997-8C>G | not provided [RCV005159035] | likely benign | 15 | 98916664 | 98916664 | Human | | name |
| 597899483 | CV3821819 | single nucleotide variant | NM_000875.5(IGF1R):c.1248-8G>T | not provided [RCV005174297] | likely benign | 15 | 98908677 | 98908677 | Human | | name |
| 598212908 | CV4009093 | single nucleotide variant | NM_000875.5(IGF1R):c.2622+1G>A | Growth delay due to insulin-like growth factor I resistance [RCV005400776] | likely pathogenic | 15 | 98924013 | 98924013 | Human | 1 | name |
| 617152434 | CV4018068 | single nucleotide variant | NM_000875.5(IGF1R):c.3722+4C>A | not specified [RCV005417858] | uncertain significance | 15 | 98948712 | 98948712 | Human | | name |
| 12913845 | CV422069 | single nucleotide variant | NM_000875.5(IGF1R):c.1997-6G>A | Growth delay due to insulin-like growth factor I resistance [RCV001331397]|not provided [RCV000494329] | likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance | 15 | 98916666 | 98916666 | Human | 1 | name |
| 13515233 | CV493391 | single nucleotide variant | NM_000875.5(IGF1R):c.3187-5C>T | Growth delay due to insulin-like growth factor I resistance [RCV001121011]|not provided [RCV000594025]|not specified [RCV001796755] | benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 98935311 | 98935311 | Human | 1 | name |
| 15014848 | CV623662 | duplication | NM_000875.5(IGF1R):c.1247+1dup | Growth delay due to insulin-like growth factor I resistance [RCV000852355] | pathogenic | 15 | 98899619 | 98899620 | Human | 1 | name |
| 15195035 | CV731034 | single nucleotide variant | NM_000875.5(IGF1R):c.1247+3A>G | Growth delay due to insulin-like growth factor I resistance [RCV001118943]|not provided [RCV000889389] | likely benign|uncertain significance | 15 | 98899624 | 98899624 | Human | 1 | name |
| 15183160 | CV744934 | single nucleotide variant | NM_000875.5(IGF1R):c.3723-4G>A | Growth delay due to insulin-like growth factor I resistance [RCV001116094]|not provided [RCV000907998] | benign|likely benign | 15 | 98957057 | 98957057 | Human | 1 | name |
| 15143454 | CV760380 | single nucleotide variant | NM_000875.5(IGF1R):c.1248-6T>C | not provided [RCV000922194] | likely benign | 15 | 98908679 | 98908679 | Human | | name |
| 15185929 | CV776449 | single nucleotide variant | NM_000875.5(IGF1R):c.2485+8A>G | not provided [RCV000931202] | likely benign | 15 | 98922439 | 98922439 | Human | | name |
| 15128029 | CV779744 | single nucleotide variant | NM_000875.5(IGF1R):c.3298-9C>G | Growth delay due to insulin-like growth factor I resistance [RCV001121012]|IGF1R-related disorder [RCV004535936]|not provided [RCV000964010] | benign | 15 | 98939192 | 98939192 | Human | 1 | name , alternate_id |
| 15125954 | CV787981 | single nucleotide variant | NM_000875.5(IGF1R):c.1590-9G>A | not provided [RCV000980291] | benign | 15 | 98913035 | 98913035 | Human | | name |
| 28880183 | CV876598 | single nucleotide variant | NM_000875.5(IGF1R):c.1997-8C>A | Growth delay due to insulin-like growth factor I resistance [RCV001117441]|not specified [RCV005419003] | likely benign|uncertain significance | 15 | 98916664 | 98916664 | Human | 1 | name |
| 28885428 | CV876600 | single nucleotide variant | NM_000875.5(IGF1R):c.2956+9C>G | Growth delay due to insulin-like growth factor I resistance [RCV001119043] | uncertain significance | 15 | 98930314 | 98930314 | Human | 1 | name |
| 28891520 | CV876601 | single nucleotide variant | NM_000875.5(IGF1R):c.3588-8C>G | Growth delay due to insulin-like growth factor I resistance [RCV001121015] | uncertain significance | 15 | 98948566 | 98948566 | Human | 1 | name |
| 150411021 | CV1196153 | single nucleotide variant | NM_000875.5(IGF1R):c.2202-16T>G | Growth delay due to insulin-like growth factor I resistance [RCV002495915]|not provided [RCV001573438]|not specified [RCV004587184] | likely benign | 15 | 98922132 | 98922132 | Human | 1 | name |
| 150439044 | CV1274867 | single nucleotide variant | NM_000875.5(IGF1R):c.2782+17G>A | Growth delay due to insulin-like growth factor I resistance [RCV002488475]|not provided [RCV001703245]|not specified [RCV001726671] | benign|likely benign | 15 | 98924701 | 98924701 | Human | 1 | name |
| 156442684 | CV1948788 | single nucleotide variant | NM_000875.5(IGF1R):c.1997-10T>A | not provided [RCV003113032] | likely benign | 15 | 98916662 | 98916662 | Human | | name |
| 156077375 | CV1952714 | single nucleotide variant | NM_000875.5(IGF1R):c.1589+17G>A | not provided [RCV002569796] | likely benign | 15 | 98911458 | 98911458 | Human | | name |
| 156377533 | CV1956917 | single nucleotide variant | NM_000875.5(IGF1R):c.2956+11G>A | not provided [RCV002582926]|not specified [RCV003491125] | likely benign | 15 | 98930316 | 98930316 | Human | | name |
| 156408109 | CV1957726 | single nucleotide variant | NM_000875.5(IGF1R):c.1463-20G>A | not provided [RCV002586422] | likely benign | 15 | 98911295 | 98911295 | Human | | name |
| 156205676 | CV1959267 | single nucleotide variant | NM_000875.5(IGF1R):c.2202-13C>A | not provided [RCV002574948] | likely benign | 15 | 98922135 | 98922135 | Human | | name |
| 156341108 | CV1961723 | single nucleotide variant | NM_000875.5(IGF1R):c.2782+15G>A | not provided [RCV002580510] | likely benign | 15 | 98924699 | 98924699 | Human | | name |
| 156129880 | CV1962651 | single nucleotide variant | NM_000875.5(IGF1R):c.3297+20G>T | not provided [RCV002572187] | likely benign | 15 | 98935446 | 98935446 | Human | | name |
| 156398710 | CV1965959 | microsatellite | NM_000875.5(IGF1R):c.95-11TC[3] | not provided [RCV002584640] | likely benign | 15 | 98707550 | 98707551 | Human | | name |
| 156412960 | CV1968889 | single nucleotide variant | NM_000875.5(IGF1R):c.1102+16C>G | not provided [RCV002608695] | likely benign | 15 | 98896921 | 98896921 | Human | | name |
| 155979594 | CV1972344 | single nucleotide variant | NM_000875.5(IGF1R):c.3297+19C>T | not provided [RCV002617538] | likely benign | 15 | 98935445 | 98935445 | Human | | name |
| 156325761 | CV1972687 | single nucleotide variant | NM_000875.5(IGF1R):c.3458-20C>T | not provided [RCV002600516] | benign | 15 | 98942903 | 98942903 | Human | | name |
| 156140557 | CV1973583 | single nucleotide variant | NM_000875.5(IGF1R):c.3722+17C>T | not provided [RCV002593817] | likely benign | 15 | 98948725 | 98948725 | Human | | name |
| 156132079 | CV1977088 | single nucleotide variant | NM_000875.5(IGF1R):c.2956+17C>T | not provided [RCV002593532] | likely benign | 15 | 98930322 | 98930322 | Human | | name |
| 156392074 | CV1991440 | single nucleotide variant | NM_000875.5(IGF1R):c.2957-15C>T | not provided [RCV002635092] | likely benign | 15 | 98934809 | 98934809 | Human | | name |
| 156333160 | CV2000744 | single nucleotide variant | NM_000875.5(IGF1R):c.3588-18G>T | not provided [RCV002649932] | likely benign | 15 | 98948556 | 98948556 | Human | | name |
| 156134790 | CV2044282 | single nucleotide variant | NM_000875.5(IGF1R):c.1103-17A>G | not provided [RCV002786306] | benign | 15 | 98899460 | 98899460 | Human | | name |
| 155905918 | CV2048141 | single nucleotide variant | NM_000875.5(IGF1R):c.2622+12G>A | not provided [RCV002771263] | likely benign | 15 | 98924024 | 98924024 | Human | | name |
| 156121938 | CV2088072 | single nucleotide variant | NM_000875.5(IGF1R):c.1829-18C>G | not provided [RCV002871298] | likely benign | 15 | 98915946 | 98915946 | Human | | name |
| 155932253 | CV2129226 | single nucleotide variant | NM_000875.5(IGF1R):c.2201+12A>G | not provided [RCV002970695] | likely benign | 15 | 98916888 | 98916888 | Human | | name |
| 156111649 | CV2140191 | single nucleotide variant | NM_000875.5(IGF1R):c.2485+18T>C | not provided [RCV003002620] | likely benign | 15 | 98922449 | 98922449 | Human | | name |
| 11638191 | CV269169 | single nucleotide variant | NM_000875.5(IGF1R):c.1590-20T>C | not provided [RCV002059162]|not specified [RCV000298969] | benign | 15 | 98913024 | 98913024 | Human | | name |
| 405217716 | CV2873552 | single nucleotide variant | NM_000875.5(IGF1R):c.2956+10C>T | not provided [RCV003553437] | likely benign | 15 | 98930315 | 98930315 | Human | | name |
| 405066413 | CV2879230 | single nucleotide variant | NM_000875.5(IGF1R):c.1248-11T>C | not provided [RCV003548263] | likely benign | 15 | 98908674 | 98908674 | Human | | name |
| 405222122 | CV2908341 | single nucleotide variant | NM_000875.5(IGF1R):c.1463-18A>T | not provided [RCV003568594] | likely benign | 15 | 98911297 | 98911297 | Human | | name |
| 405235919 | CV2973272 | single nucleotide variant | NM_000875.5(IGF1R):c.2485+17C>G | not provided [RCV003683080] | likely benign | 15 | 98922448 | 98922448 | Human | | name |
| 404977822 | CV3012164 | single nucleotide variant | NM_000875.5(IGF1R):c.3587+14T>C | not provided [RCV003690697] | likely benign | 15 | 98943066 | 98943066 | Human | | name |
| 405119565 | CV3116213 | single nucleotide variant | NM_000875.5(IGF1R):c.3723-17G>A | not provided [RCV003814703] | likely benign | 15 | 98957044 | 98957044 | Human | | name |
| 405209592 | CV3117281 | single nucleotide variant | NM_000875.5(IGF1R):c.1248-17G>T | not provided [RCV003823068] | likely benign | 15 | 98908668 | 98908668 | Human | | name |
| 405176751 | CV3119293 | single nucleotide variant | NM_000875.5(IGF1R):c.2622+12G>C | not provided [RCV003819578] | likely benign | 15 | 98924024 | 98924024 | Human | | name |
| 405085307 | CV3122012 | single nucleotide variant | NM_000875.5(IGF1R):c.2202-18T>C | not provided [RCV003810767] | benign | 15 | 98922130 | 98922130 | Human | | name |
| 405218721 | CV3135747 | single nucleotide variant | NM_000875.5(IGF1R):c.1463-16G>A | not provided [RCV003824372] | likely benign | 15 | 98911299 | 98911299 | Human | | name |
| 405227650 | CV3142867 | single nucleotide variant | NM_000875.5(IGF1R):c.3723-18C>T | not provided [RCV003848210] | likely benign | 15 | 98957043 | 98957043 | Human | | name |
| 405172353 | CV3151781 | single nucleotide variant | NM_000875.5(IGF1R):c.3588-15T>C | not provided [RCV003857932] | likely benign | 15 | 98948559 | 98948559 | Human | | name |
| 405157794 | CV3152506 | single nucleotide variant | NM_000875.5(IGF1R):c.3458-18C>T | not provided [RCV003840433] | likely benign | 15 | 98942905 | 98942905 | Human | | name |
| 405157564 | CV3152598 | single nucleotide variant | NM_000875.5(IGF1R):c.1996+17G>A | not provided [RCV003840525] | likely benign | 15 | 98916148 | 98916148 | Human | | name |
| 405181118 | CV3159481 | single nucleotide variant | NM_000875.5(IGF1R):c.1997-14T>A | not provided [RCV003858731] | likely benign | 15 | 98916658 | 98916658 | Human | | name |
| 405201551 | CV3164578 | single nucleotide variant | NM_000875.5(IGF1R):c.3297+20G>A | not provided [RCV003860635] | likely benign | 15 | 98935446 | 98935446 | Human | | name |
| 11612079 | CV323619 | single nucleotide variant | NM_000875.5(IGF1R):c.1247+10C>T | Growth delay due to insulin-like growth factor I resistance [RCV000403752] | uncertain significance | 15 | 98899631 | 98899631 | Human | 1 | name |
| 11664143 | CV323675 | microsatellite | NM_000875.5(IGF1R):c.*1332TC[1] | Growth delay due to insulin-like growth factor I resistance [RCV000402972] | uncertain significance | 15 | 98958773 | 98958774 | Human | | name |
| 11605856 | CV323691 | microsatellite | NM_000875.5(IGF1R):c.*1753AT[7] | Growth delay due to insulin-like growth factor I resistance [RCV000324485] | likely benign | 15 | 98959194 | 98959195 | Human | | name |
| 11606639 | CV323741 | microsatellite | NM_000875.5(IGF1R):c.*2529GT[6] | Growth delay due to insulin-like growth factor I resistance [RCV000333693] | benign | 15 | 98959971 | 98959972 | Human | | name |
| 11618412 | CV340117 | single nucleotide variant | NM_000875.5(IGF1R):c.1462+15C>G | Growth delay due to insulin-like growth factor I resistance [RCV000313833]|not provided [RCV002056475]|not specified [RCV001573778] | benign|uncertain significance | 15 | 98908914 | 98908914 | Human | 1 | name |
| 11622863 | CV340124 | single nucleotide variant | NM_000875.5(IGF1R):c.1828+11C>T | Growth delay due to insulin-like growth factor I resistance [RCV000365279]|not provided [RCV002520980] | likely benign|uncertain significance | 15 | 98913293 | 98913293 | Human | 1 | name |
| 11661678 | CV340164 | microsatellite | NM_000875.5(IGF1R):c.*1753AT[3] | Growth delay due to insulin-like growth factor I resistance [RCV000379023] | uncertain significance | 15 | 98959195 | 98959200 | Human | | name |
| 11666412 | CV353334 | deletion | NM_000875.5(IGF1R):c.-41_-33del | Growth delay due to insulin-like growth factor I resistance [RCV000342071] | benign|likely benign | 15 | 98649526 | 98649534 | Human | 1 | name |
| 597907055 | CV3738861 | single nucleotide variant | NM_000875.5(IGF1R):c.3457+13C>T | not provided [RCV005073096] | likely benign | 15 | 98939373 | 98939373 | Human | | name |
| 597885767 | CV3741717 | single nucleotide variant | NM_000875.5(IGF1R):c.3722+19C>T | not provided [RCV005070436] | likely benign | 15 | 98948727 | 98948727 | Human | | name |
| 597911385 | CV3745608 | single nucleotide variant | NM_000875.5(IGF1R):c.1996+16C>T | not provided [RCV005073609] | likely benign | 15 | 98916147 | 98916147 | Human | | name |
| 597850629 | CV3761837 | single nucleotide variant | NM_000875.5(IGF1R):c.3297+11A>G | not provided [RCV005087933]|not specified [RCV005087934] | likely benign | 15 | 98935437 | 98935437 | Human | | name |
| 597851652 | CV3782455 | single nucleotide variant | NM_000875.5(IGF1R):c.3457+10T>G | not provided [RCV005126680] | likely benign | 15 | 98939370 | 98939370 | Human | | name |
| 597900994 | CV3823307 | single nucleotide variant | NM_000875.5(IGF1R):c.2885+17G>A | not provided [RCV005175657] | likely benign | 15 | 98929677 | 98929677 | Human | | name |
| 597896559 | CV3828807 | single nucleotide variant | NM_000875.5(IGF1R):c.1829-14G>T | not provided [RCV005171500] | likely benign | 15 | 98915950 | 98915950 | Human | | name |
| 597927627 | CV3851364 | single nucleotide variant | NM_000875.5(IGF1R):c.1103-16T>C | not provided [RCV005202140] | likely benign | 15 | 98899461 | 98899461 | Human | | name |
| 28885120 | CV876597 | single nucleotide variant | NM_000875.5(IGF1R):c.1462+13A>G | Growth delay due to insulin-like growth factor I resistance [RCV001118946] | uncertain significance | 15 | 98908912 | 98908912 | Human | 1 | name |
| 28885421 | CV876599 | single nucleotide variant | NM_000875.5(IGF1R):c.2885+15A>G | Growth delay due to insulin-like growth factor I resistance [RCV001119041]|not provided [RCV002069933] | benign|likely benign | 15 | 98929675 | 98929675 | Human | 1 | name |
| 8584696 | CV119272 | single nucleotide variant | NM_000875.4(IGF1R):c.2957-633A>T | Lung cancer [RCV000099792] | uncertain significance | 15 | 98934191 | 98934191 | Human | | name |
| 405177617 | CV3147006 | microsatellite | NM_000875.5(IGF1R):c.641-14CT[3] | not provided [RCV003842102] | likely benign | 15 | 98891311 | 98891312 | Human | | name |
| 405220377 | CV2904223 | deletion | NM_000875.5(IGF1R):c.94+3_94+6del | not provided [RCV003568339] | uncertain significance | 15 | 98649675 | 98649678 | Human | | name |
| 11624958 | CV333355 | deletion | NM_000875.5(IGF1R):c.*417_*418del | Growth delay due to insulin-like growth factor I resistance [RCV000393036] | benign | 15 | 98957859 | 98957860 | Human | 1 | name |
| 401904531 | CV2814520 | duplication | NM_000875.5(IGF1R):c.*3470_*3471dup | not provided [RCV003395059] | likely benign | 15 | 98960905 | 98960906 | Human | | name |
| 405085866 | CV3122049 | microsatellite | NM_000875.5(IGF1R):c.94+10_94+11del | not provided [RCV003810804] | likely benign | 15 | 98649683 | 98649684 | Human | | name |
| 405003804 | CV3184501 | deletion | NM_000875.5(IGF1R):c.3178_3186+7del | Growth delay due to insulin-like growth factor I resistance [RCV003883290] | uncertain significance | 15 | 98935045 | 98935060 | Human | 1 | name |
| 405263931 | CV3189819 | duplication | NM_000875.5(IGF1R):c.*2425_*2426dup | IGF1R-related disorder [RCV004534438] | likely benign | 15 | 98959854 | 98959855 | Human | | name , trait , alternate_id |
| 405258820 | CV3194115 | deletion | NM_000875.5(IGF1R):c.*2424_*2427del | IGF1R-related disorder [RCV004539212] | likely benign | 15 | 98959866 | 98959869 | Human | | name , trait , alternate_id |
| 11651095 | CV323673 | deletion | NM_000875.5(IGF1R):c.*1267_*1268del | Growth delay due to insulin-like growth factor I resistance [RCV000296960] | uncertain significance | 15 | 98958701 | 98958702 | Human | 1 | name |
| 11654641 | CV323728 | deletion | NM_000875.5(IGF1R):c.*2428_*2431del | Growth delay due to insulin-like growth factor I resistance [RCV000319527] | uncertain significance | 15 | 98959870 | 98959873 | Human | 1 | name |
| 11661215 | CV323735 | deletion | NM_000875.5(IGF1R):c.*2430_*2431del | Growth delay due to insulin-like growth factor I resistance [RCV000374216] | uncertain significance | 15 | 98959871 | 98959872 | Human | 1 | name |
| 11647526 | CV323801 | deletion | NM_000875.5(IGF1R):c.*5720_*5724del | Growth delay due to insulin-like growth factor I resistance [RCV000277064] | uncertain significance | 15 | 98963159 | 98963163 | Human | 1 | name |
| 11655781 | CV323802 | deletion | NM_000875.5(IGF1R):c.*5736_*5739del | Growth delay due to insulin-like growth factor I resistance [RCV000328439] | likely benign | 15 | 98963173 | 98963176 | Human | 1 | name |
| 11661647 | CV323812 | deletion | NM_000875.5(IGF1R):c.*6266_*6268del | Growth delay due to insulin-like growth factor I resistance [RCV000378665] | uncertain significance | 15 | 98963706 | 98963708 | Human | 1 | name |
| 11659863 | CV323835 | deletion | NM_000875.5(IGF1R):c.*6784_*6786del | Growth delay due to insulin-like growth factor I resistance [RCV000362081] | uncertain significance | 15 | 98964224 | 98964226 | Human | 1 | name |
| 11614594 | CV333490 | deletion | NM_000875.5(IGF1R):c.*5788_*5789del | Growth delay due to insulin-like growth factor I resistance [RCV000278451]|not provided [RCV004693258] | uncertain significance | 15 | 98963214 | 98963215 | Human | 1 | name |
| 11662653 | CV340169 | deletion | NM_000875.5(IGF1R):c.*2610_*2613del | Growth delay due to insulin-like growth factor I resistance [RCV000388318]|not provided [RCV004693255] | uncertain significance | 15 | 98960050 | 98960053 | Human | 1 | name |
| 11625649 | CV340170 | duplication | NM_000875.5(IGF1R):c.*2856_*2857dup | Growth delay due to insulin-like growth factor I resistance [RCV000401684] | benign | 15 | 98960292 | 98960293 | Human | 1 | name |
| 11620715 | CV340172 | deletion | NM_000875.5(IGF1R):c.*2858_*2860del | Growth delay due to insulin-like growth factor I resistance [RCV000340361] | benign | 15 | 98960298 | 98960300 | Human | 1 | name |
| 11662001 | CV340238 | deletion | NM_000875.5(IGF1R):c.*5730_*5733del | Growth delay due to insulin-like growth factor I resistance [RCV000382119] | uncertain significance | 15 | 98963172 | 98963175 | Human | 1 | name |
| 11661990 | CV340256 | deletion | NM_000875.5(IGF1R):c.*6977_*6979del | Growth delay due to insulin-like growth factor I resistance [RCV000382033]|not provided [RCV003391147] | likely benign|uncertain significance | 15 | 98964417 | 98964419 | Human | 1 | name |
| 11615875 | CV340257 | duplication | NM_000875.5(IGF1R):c.*7046_*7050dup | Growth delay due to insulin-like growth factor I resistance [RCV000289972] | likely benign | 15 | 98964483 | 98964484 | Human | 1 | name |
| 11648038 | CV341590 | deletion | NM_000875.5(IGF1R):c.*1767_*1770del | Growth delay due to insulin-like growth factor I resistance [RCV000279960] | uncertain significance | 15 | 98959206 | 98959209 | Human | 1 | name |
| 11650388 | CV341596 | deletion | NM_000875.5(IGF1R):c.*2448_*2452del | Growth delay due to insulin-like growth factor I resistance [RCV000292777] | uncertain significance | 15 | 98959886 | 98959890 | Human | 1 | name |
| 11634898 | CV341601 | duplication | NM_000875.5(IGF1R):c.*2854_*2857dup | Growth delay due to insulin-like growth factor I resistance [RCV000290131] | uncertain significance | 15 | 98960292 | 98960293 | Human | 1 | name |
| 11646284 | CV341625 | deletion | NM_000875.5(IGF1R):c.*3878_*3881del | Growth delay due to insulin-like growth factor I resistance [RCV000270108] | uncertain significance | 15 | 98961317 | 98961320 | Human | 1 | name |
| 597894534 | CV3828665 | deletion | NM_000875.5(IGF1R):c.94+17_94+23del | not provided [RCV005169294] | likely benign | 15 | 98649686 | 98649692 | Human | | name |
| 156414656 | CV1982915 | microsatellite | NM_000875.5(IGF1R):c.2202-8_2202-6del | not provided [RCV002609303] | likely benign | 15 | 98922135 | 98922137 | Human | | name |
| 11661422 | CV340144 | insertion | NM_000875.5(IGF1R):c.*1155_*1156insGT | Growth delay due to insulin-like growth factor I resistance [RCV000376244] | uncertain significance | 15 | 98958596 | 98958597 | Human | 1 | name |
| 155952213 | CV2043780 | inversion | NM_000875.5(IGF1R):c.1590-20_1590-19inv | not provided [RCV002775833] | uncertain significance | 15 | 98913024 | 98913025 | Human | | name |
| 126725445 | CV1018019 | single nucleotide variant | NM_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 significance | 15 | 98957404 | 98957404 | Human | 2 | alternate_id |
| 152086302 | CV1589747 | single nucleotide variant | NM_000875.5(IGF1R):c.588C>G (p.Thr196=) | IGF1R-related disorder [RCV004545238]|not provided [RCV002193681] | benign|likely benign | 15 | 98708055 | 98708055 | Human | 1 | name , alternate_id |
| 152075616 | CV1616739 | single nucleotide variant | NM_000875.5(IGF1R):c.1473C>T (p.Asp491=) | IGF1R-related disorder [RCV004545251]|not provided [RCV002210551] | likely benign | 15 | 98911325 | 98911325 | Human | 1 | name , alternate_id |
| 10050660 | CV192262 | single nucleotide variant | NM_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 significance | 15 | 98708035 | 98708035 | Human | 1 | alternate_id |
| 156437099 | CV1936928 | single nucleotide variant | NM_000875.5(IGF1R):c.3870G>A (p.Pro1290=) | IGF1R-related disorder [RCV004540610]|not provided [RCV003106630] | likely benign | 15 | 98957208 | 98957208 | Human | 1 | alternate_id |
| 10048973 | CV195269 | single nucleotide variant | NM_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 benign | 15 | 98908747 | 98908747 | Human | 1 | alternate_id |
| 10053393 | CV196203 | single nucleotide variant | NM_000875.5(IGF1R):c.1963G>A (p.Gly655Ser) | IGF1R-related disorder [RCV004537511]|not provided [RCV000180533] | uncertain significance | 15 | 98916098 | 98916098 | Human | 1 | alternate_id |
| 156140887 | CV1973597 | single nucleotide variant | NM_000875.5(IGF1R):c.3846C>T (p.Ser1282=) | IGF1R-related disorder [RCV004545348]|not provided [RCV002593827] | likely benign | 15 | 98957184 | 98957184 | Human | 1 | alternate_id |
| 156286084 | CV2345635 | single nucleotide variant | NM_000875.5(IGF1R):c.2663A>G (p.Tyr888Cys) | IGF1R-related disorder [RCV004736294]|Inborn genetic diseases [RCV002989699] | uncertain significance | 15 | 98924565 | 98924565 | Human | 2 | alternate_id |
| 11641192 | CV266569 | single nucleotide variant | NM_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 pathogenicity | 15 | 98908773 | 98908773 | Human | 1 | alternate_id |
| 11636759 | CV267211 | single nucleotide variant | NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) | IGF1R-related disorder [RCV004543017]|not provided [RCV000274313] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 98916091 | 98916091 | Human | 1 | name , alternate_id |
| 11579672 | CV271673 | single nucleotide variant | NM_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 benign | 15 | 98957376 | 98957376 | Human | 1 | alternate_id |
| 401923028 | CV2796681 | single nucleotide variant | NM_000875.5(IGF1R):c.994T>G (p.Cys332Gly) | IGF1R-related disorder [RCV004531536] | uncertain significance | 15 | 98896797 | 98896797 | Human | | name , trait , alternate_id |
| 401937923 | CV2797161 | deletion | NM_000875.5(IGF1R):c.2881_2884del (p.Lys961fs) | IGF1R-related disorder [RCV004528702] | likely pathogenic | 15 | 98929653 | 98929656 | Human | | trait , alternate_id |
| 401902898 | CV2799797 | single nucleotide variant | NM_000875.5(IGF1R):c.1222A>C (p.Ile408Leu) | IGF1R-related disorder [RCV004534325] | uncertain significance | 15 | 98899596 | 98899596 | Human | | trait , alternate_id |
| 401907214 | CV2800150 | single nucleotide variant | NM_000875.5(IGF1R):c.1486A>G (p.Thr496Ala) | IGF1R-related disorder [RCV004529641] | uncertain significance | 15 | 98911338 | 98911338 | Human | | trait , alternate_id |
| 401908639 | CV2801388 | single nucleotide variant | NM_000875.5(IGF1R):c.3763A>C (p.Met1255Leu) | IGF1R-related disorder [RCV004528569] | uncertain significance | 15 | 98957101 | 98957101 | Human | | trait , alternate_id |
| 401907213 | CV2804883 | single nucleotide variant | NM_000875.5(IGF1R):c.3601G>A (p.Val1201Ile) | IGF1R-related disorder [RCV004536649] | uncertain significance | 15 | 98948587 | 98948587 | Human | | trait , alternate_id |
| 401904526 | CV2814513 | single nucleotide variant | NM_000875.5(IGF1R):c.699C>T (p.Pro233=) | IGF1R-related disorder [RCV004540663]|not provided [RCV003395054] | likely benign | 15 | 98891383 | 98891383 | Human | 1 | name , alternate_id |
| 405224046 | CV2891352 | single nucleotide variant | NM_000875.5(IGF1R):c.1572C>T (p.Thr524=) | IGF1R-related disorder [RCV004536853]|not provided [RCV003554268] | likely benign | 15 | 98911424 | 98911424 | Human | 1 | name , alternate_id |
| 8564457 | CV29833 | single nucleotide variant | NM_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 significance | 15 | 98911384 | 98911384 | Human | 1 | alternate_id |
| 404991987 | CV3132330 | single nucleotide variant | NM_000875.5(IGF1R):c.3372A>G (p.Ala1124=) | IGF1R-related disorder [RCV004539154]|not provided [RCV003827268] | likely benign | 15 | 98939275 | 98939275 | Human | 1 | name , alternate_id |
| 405280052 | CV3200237 | single nucleotide variant | NM_000875.5(IGF1R):c.1242A>G (p.Leu414=) | IGF1R-related disorder [RCV004542498]|not provided [RCV005064917] | likely benign | 15 | 98899616 | 98899616 | Human | 1 | name , alternate_id |
| 405271489 | CV3202822 | single nucleotide variant | NM_000875.5(IGF1R):c.2856G>A (p.Val952=) | IGF1R-related disorder [RCV004539340] | likely benign | 15 | 98929631 | 98929631 | Human | | name , trait , alternate_id |
| 405258266 | CV3203136 | single nucleotide variant | NM_000875.5(IGF1R):c.2092C>T (p.Pro698Ser) | IGF1R-related disorder [RCV004532150] | uncertain significance | 15 | 98916767 | 98916767 | Human | | trait , alternate_id |
| 405260927 | CV3204404 | single nucleotide variant | NM_000875.5(IGF1R):c.831G>A (p.Val277=) | IGF1R-related disorder [RCV004542415] | likely benign | 15 | 98891515 | 98891515 | Human | | name , trait , alternate_id |
| 405258060 | CV3208135 | single nucleotide variant | NM_000875.5(IGF1R):c.2019T>C (p.Tyr673=) | IGF1R-related disorder [RCV004532143] | likely benign | 15 | 98916694 | 98916694 | Human | | name , trait , alternate_id |
| 405284313 | CV3213656 | single nucleotide variant | NM_000875.5(IGF1R):c.1446C>T (p.Asn482=) | IGF1R-related disorder [RCV004539458]|not provided [RCV005064800] | likely benign | 15 | 98908883 | 98908883 | Human | 1 | name , alternate_id |
| 405271200 | CV3218987 | single nucleotide variant | NM_000875.5(IGF1R):c.123C>T (p.Asn41=) | IGF1R-related disorder [RCV004545655]|not provided [RCV005102994] | likely benign | 15 | 98707590 | 98707590 | Human | 1 | name , alternate_id |
| 11607100 | CV323603 | single nucleotide variant | NM_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 benign | 15 | 98891548 | 98891548 | Human | 1 | name , alternate_id |
| 11606710 | CV323612 | single nucleotide variant | NM_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 benign | 15 | 98891587 | 98891587 | Human | 1 | name , alternate_id |
| 11618313 | CV340119 | single nucleotide variant | NM_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 significance | 15 | 98913140 | 98913140 | Human | 1 | name , alternate_id |
| 11626173 | CV341557 | single nucleotide variant | NM_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 benign | 15 | 98891569 | 98891569 | Human | 1 | name , alternate_id |
| 408370950 | CV3505872 | single nucleotide variant | NM_000875.5(IGF1R):c.923C>T (p.Pro308Leu) | IGF1R-related disorder [RCV004724307] | uncertain significance | 15 | 98891607 | 98891607 | Human | | name , trait , alternate_id |
| 408368277 | CV3509464 | single nucleotide variant | NM_000875.5(IGF1R):c.440C>T (p.Ala147Val) | IGF1R-related disorder [RCV004734993] | uncertain significance | 15 | 98707907 | 98707907 | Human | | name , trait , alternate_id |
| 408368898 | CV3517367 | single nucleotide variant | NM_000875.5(IGF1R):c.3060T>C (p.Gly1020=) | IGF1R-related disorder [RCV004736104] | likely benign | 15 | 98934927 | 98934927 | Human | | name , trait , alternate_id |
| 12913102 | CV422068 | single nucleotide variant | NM_000875.5(IGF1R):c.1862C>T (p.Ser621Leu) | IGF1R-related disorder [RCV000844968]|not provided [RCV000493390] | likely pathogenic|not provided | 15 | 98915997 | 98915997 | Human | 1 | alternate_id |
| 13516114 | CV489117 | single nucleotide variant | NM_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 significance | 15 | 98891569 | 98891569 | Human | 1 | name , alternate_id |
| 13524159 | CV490864 | single nucleotide variant | NM_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 significance | 15 | 98891534 | 98891534 | Human | 1 | alternate_id |
| 13519436 | CV492694 | single nucleotide variant | NM_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 significance | 15 | 98649665 | 98649665 | Human | 1 | name , alternate_id |
| 13836647 | CV587925 | single nucleotide variant | NM_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 significance | 15 | 98911352 | 98911352 | Human | 1 | name , alternate_id |
| 13837485 | CV588775 | single nucleotide variant | NM_000875.5(IGF1R):c.318C>T (p.Ile106=) | IGF1R-related disorder [RCV004540071]|not provided [RCV000733917] | likely benign|uncertain significance | 15 | 98707785 | 98707785 | Human | 1 | name , alternate_id |
| 15185571 | CV703433 | single nucleotide variant | NM_000875.5(IGF1R):c.942C>T (p.Asn314=) | IGF1R-related disorder [RCV004533671]|not provided [RCV000953023] | likely benign | 15 | 98891626 | 98891626 | Human | 1 | name , alternate_id |
| 15102187 | CV703434 | single nucleotide variant | NM_000875.5(IGF1R):c.4095G>A (p.Ser1365=) | IGF1R-related disorder [RCV004533702]|not provided [RCV000959244] | likely benign | 15 | 98957433 | 98957433 | Human | 1 | alternate_id |
| 15135557 | CV714697 | single nucleotide variant | NM_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 benign | 15 | 98916084 | 98916084 | Human | 1 | alternate_id |
| 15186291 | CV726370 | single nucleotide variant | NM_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] | benign | 15 | 98707869 | 98707869 | Human | 1 | name , alternate_id |
| 15177663 | CV726372 | single nucleotide variant | NM_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] | benign | 15 | 98891530 | 98891530 | Human | 1 | name , alternate_id |
| 15193049 | CV726373 | single nucleotide variant | NM_000875.5(IGF1R):c.1162G>A (p.Val388Met) | IGF1R-related disorder [RCV004530955]|not provided [RCV000888839] | benign|likely benign | 15 | 98899536 | 98899536 | Human | 1 | alternate_id |
| 15114822 | CV754819 | single nucleotide variant | NM_000875.5(IGF1R):c.2304G>A (p.Pro768=) | IGF1R-related disorder [RCV004533527]|not provided [RCV000917347] | likely benign | 15 | 98922250 | 98922250 | Human | 1 | name , alternate_id |
| 15196325 | CV754822 | single nucleotide variant | NM_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 significance | 15 | 98934975 | 98934975 | Human | 1 | alternate_id |
| 15098260 | CV754825 | single nucleotide variant | NM_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 benign | 15 | 98943047 | 98943047 | Human | 1 | alternate_id |
| 28875835 | CV874349 | single nucleotide variant | NM_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 significance | 15 | 98948640 | 98948640 | Human | 1 | name , alternate_id |
| 15201165 | CV726369 | single nucleotide variant | NM_000875.5(IGF1R):c.15C>T (p.Ser5=) | not provided [RCV000891118] | benign | 15 | 98649596 | 98649596 | Human | | name |
| 401947044 | CV2832152 | single nucleotide variant | NM_000875.5(IGF1R):c.2T>A (p.Met1Lys) | Growth delay due to insulin-like growth factor I resistance [RCV003447677] | likely pathogenic | 15 | 98649583 | 98649583 | Human | 1 | name |
| 405186070 | CV2963972 | single nucleotide variant | NM_000875.5(IGF1R):c.60C>T (p.Ser20=) | not provided [RCV003676760] | likely benign | 15 | 98649641 | 98649641 | Human | | name |
| 405161215 | CV3125098 | single nucleotide variant | NM_000875.5(IGF1R):c.99C>T (p.Cys33=) | not provided [RCV003818369] | likely benign | 15 | 98707566 | 98707566 | Human | | name |
| 405229963 | CV3176697 | single nucleotide variant | NM_000875.5(IGF1R):c.48C>A (p.Leu16=) | not provided [RCV003865071] | likely benign | 15 | 98649629 | 98649629 | Human | | name |
| 597949510 | CV3759302 | single nucleotide variant | NM_000875.5(IGF1R):c.84G>C (p.Thr28=) | not provided [RCV005079099] | likely benign | 15 | 98649665 | 98649665 | Human | | name |
| 598125357 | CV3883953 | single nucleotide variant | NM_000875.5(IGF1R):c.4A>C (p.Lys2Gln) | not provided [RCV005236308] | uncertain significance | 15 | 98649585 | 98649585 | Human | | name |
| 15104640 | CV754813 | single nucleotide variant | NM_000875.5(IGF1R):c.75C>T (p.Leu25=) | not provided [RCV000915389] | likely benign | 15 | 98649656 | 98649656 | Human | | name |
| 150476412 | CV1203035 | single nucleotide variant | NM_000875.5(IGF1R):c.16G>A (p.Gly6Arg) | not provided [RCV001589629] | likely benign | 15 | 98649597 | 98649597 | Human | | name |
| 151235624 | CV1318972 | single nucleotide variant | NM_000875.5(IGF1R):c.237G>A (p.Thr79=) | not provided [RCV001795788] | benign|likely benign | 15 | 98707704 | 98707704 | Human | | name |
| 152059030 | CV1536005 | single nucleotide variant | NM_000875.5(IGF1R):c.201C>T (p.Ala67=) | not provided [RCV002146561] | likely benign | 15 | 98707668 | 98707668 | Human | | name |
| 156252727 | CV1967279 | single nucleotide variant | NM_000875.5(IGF1R):c.159G>A (p.Thr53=) | not provided [RCV002597523] | likely benign | 15 | 98707626 | 98707626 | Human | | name |
| 155983004 | CV2163228 | single nucleotide variant | NM_000875.5(IGF1R):c.237G>C (p.Thr79=) | not provided [RCV003033968] | likely benign | 15 | 98707704 | 98707704 | Human | | name |
| 11581649 | CV265408 | single nucleotide variant | NM_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 significance | 15 | 98707692 | 98707692 | Human | 1 | name |
| 402502721 | CV3032511 | deletion | NM_000875.5(IGF1R):c.45del (p.Leu16fs) | not provided [RCV003714909] | pathogenic | 15 | 98649622 | 98649622 | Human | | name |
| 405116277 | CV3115847 | single nucleotide variant | NM_000875.5(IGF1R):c.246C>T (p.Thr82=) | not provided [RCV003814337] | likely benign | 15 | 98707713 | 98707713 | Human | | name |
| 597899787 | CV3740977 | single nucleotide variant | NM_000875.5(IGF1R):c.252C>T (p.Tyr84=) | not provided [RCV005072140] | likely benign | 15 | 98707719 | 98707719 | Human | | name |
| 597840219 | CV3770830 | single nucleotide variant | NM_000875.5(IGF1R):c.156C>T (p.Cys52=) | not provided [RCV005113948] | likely benign | 15 | 98707623 | 98707623 | Human | | name |
| 597882060 | CV3827075 | single nucleotide variant | NM_000875.5(IGF1R):c.288C>T (p.Leu96=) | not provided [RCV005157088] | likely benign | 15 | 98707755 | 98707755 | Human | | name |
| 597896396 | CV3828467 | single nucleotide variant | NM_000875.5(IGF1R):c.14C>G (p.Ser5Cys) | not provided [RCV005171360] | uncertain significance | 15 | 98649595 | 98649595 | Human | | name |
| 13837678 | CV588968 | single nucleotide variant | NM_000875.5(IGF1R):c.189C>T (p.Leu63=) | not provided [RCV000734166] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 98707656 | 98707656 | Human | | name |
| 15134598 | CV739898 | single nucleotide variant | NM_000875.5(IGF1R):c.237G>T (p.Thr79=) | not provided [RCV000898318] | benign | 15 | 98707704 | 98707704 | Human | | name |
| 15125946 | CV785079 | single nucleotide variant | NM_000875.5(IGF1R):c.279C>T (p.Leu93=) | not provided [RCV000980290] | likely benign | 15 | 98707746 | 98707746 | Human | | name |
| 28875367 | CV874336 | single nucleotide variant | NM_000875.5(IGF1R):c.114C>T (p.Asp38=) | Growth delay due to insulin-like growth factor I resistance [RCV001115872] | uncertain significance | 15 | 98707581 | 98707581 | Human | 1 | name |
| 28875369 | CV874337 | single nucleotide variant | NM_000875.5(IGF1R):c.261G>C (p.Leu87=) | Growth delay due to insulin-like growth factor I resistance [RCV001115873] | uncertain significance | 15 | 98707728 | 98707728 | Human | 1 | name |
| 126909128 | CV1053126 | single nucleotide variant | NM_000875.5(IGF1R):c.77G>A (p.Trp26Ter) | Neurodevelopmental disorder [RCV001374981] | likely pathogenic | 15 | 98649658 | 98649658 | Human | 1 | name |
| 156403968 | CV1886484 | single nucleotide variant | NM_000875.5(IGF1R):c.795G>T (p.Pro265=) | not provided [RCV003069595] | benign | 15 | 98891479 | 98891479 | Human | | name |
| 156403987 | CV1886496 | single nucleotide variant | NM_000875.5(IGF1R):c.492G>T (p.Val164=) | not provided [RCV003069600] | benign | 15 | 98707959 | 98707959 | Human | | name |
| 156373588 | CV1932919 | single nucleotide variant | NM_000875.5(IGF1R):c.915G>A (p.Gln305=) | not provided [RCV002633627] | likely benign | 15 | 98891599 | 98891599 | Human | | name |
| 156408608 | CV1954446 | single nucleotide variant | NM_000875.5(IGF1R):c.303C>A (p.Pro101=) | not provided [RCV002586561] | likely benign | 15 | 98707770 | 98707770 | Human | | name |
| 156340575 | CV1961669 | single nucleotide variant | NM_000875.5(IGF1R):c.300C>T (p.Phe100=) | not provided [RCV002580484] | likely benign | 15 | 98707767 | 98707767 | Human | | name |
| 156124746 | CV1992880 | single nucleotide variant | NM_000875.5(IGF1R):c.28C>T (p.Pro10Ser) | not provided [RCV002623082] | uncertain significance | 15 | 98649609 | 98649609 | Human | | name |
| 156035660 | CV2002627 | single nucleotide variant | NM_000875.5(IGF1R):c.80C>T (p.Pro27Leu) | Inborn genetic diseases [RCV005343461]|not provided [RCV002658840] | uncertain significance | 15 | 98649661 | 98649661 | Human | 1 | name |
| 156050949 | CV2027319 | single nucleotide variant | NM_000875.5(IGF1R):c.879C>T (p.Ser293=) | not provided [RCV002736509] | likely benign | 15 | 98891563 | 98891563 | Human | | name |
| 155920002 | CV2032088 | single nucleotide variant | NM_000875.5(IGF1R):c.807C>T (p.Tyr269=) | not provided [RCV002727336] | likely benign | 15 | 98891491 | 98891491 | Human | | name |
| 155953847 | CV2043890 | single nucleotide variant | NM_000875.5(IGF1R):c.303C>T (p.Pro101=) | not provided [RCV002775917] | likely benign | 15 | 98707770 | 98707770 | Human | | name |
| 155996529 | CV2045281 | single nucleotide variant | NM_000875.5(IGF1R):c.732C>T (p.Asn244=) | not provided [RCV002755989] | likely benign | 15 | 98891416 | 98891416 | Human | | name |
| 156219351 | CV2047820 | single nucleotide variant | NM_000875.5(IGF1R):c.489G>A (p.Ala163=) | not provided [RCV002790570] | likely benign | 15 | 98707956 | 98707956 | Human | | name |
| 156115866 | CV2065833 | single nucleotide variant | NM_000875.5(IGF1R):c.384T>A (p.Ile128=) | not provided [RCV002871073] | likely benign | 15 | 98707851 | 98707851 | Human | | name |
| 156118845 | CV2081537 | single nucleotide variant | NM_000875.5(IGF1R):c.840C>T (p.Asp280=) | not provided [RCV002889477] | likely benign | 15 | 98891524 | 98891524 | Human | | name |
| 156156480 | CV2098770 | single nucleotide variant | NM_000875.5(IGF1R):c.861C>T (p.Ser287=) | not provided [RCV002890830] | likely benign | 15 | 98891545 | 98891545 | Human | | name |
| 156029325 | CV2131568 | single nucleotide variant | NM_000875.5(IGF1R):c.570G>A (p.Pro190=) | not provided [RCV002976533] | likely benign | 15 | 98708037 | 98708037 | Human | | name |
| 156249595 | CV2314169 | single nucleotide variant | NM_000875.5(IGF1R):c.71C>G (p.Ser24Trp) | Inborn genetic diseases [RCV002919833] | uncertain significance | 15 | 98649652 | 98649652 | Human | 1 | name |
| 401735887 | CV2702982 | single nucleotide variant | NM_000875.5(IGF1R):c.59C>T (p.Ser20Phe) | Inborn genetic diseases [RCV003273033]|not provided [RCV003730508] | uncertain significance | 15 | 98649640 | 98649640 | Human | 1 | name |
| 401859340 | CV2771537 | single nucleotide variant | NM_000875.5(IGF1R):c.35C>G (p.Ser12Trp) | Inborn genetic diseases [RCV003357072] | uncertain significance | 15 | 98649616 | 98649616 | Human | 1 | name |
| 405246499 | CV2970147 | single nucleotide variant | NM_000875.5(IGF1R):c.321C>G (p.Arg107=) | not provided [RCV003685439] | likely benign | 15 | 98707788 | 98707788 | Human | | name |
| 405196346 | CV2976035 | single nucleotide variant | NM_000875.5(IGF1R):c.492G>A (p.Val164=) | not provided [RCV003677699] | likely benign | 15 | 98707959 | 98707959 | Human | | name |
| 402520627 | CV3002298 | single nucleotide variant | NM_000875.5(IGF1R):c.474C>T (p.Ser158=) | not provided [RCV003690130] | likely benign | 15 | 98707941 | 98707941 | Human | | name |
| 405142747 | CV3023025 | single nucleotide variant | NM_000875.5(IGF1R):c.717C>T (p.Cys239=) | not provided [RCV003702662] | likely benign | 15 | 98891401 | 98891401 | Human | | name |
| 405234159 | CV3032366 | single nucleotide variant | NM_000875.5(IGF1R):c.738G>A (p.Thr246=) | not provided [RCV003712015] | likely benign | 15 | 98891422 | 98891422 | Human | | name |
| 405218636 | CV3049175 | single nucleotide variant | NM_000875.5(IGF1R):c.55C>T (p.Leu19Phe) | Inborn genetic diseases [RCV005353262]|not provided [RCV003732984] | uncertain significance | 15 | 98649636 | 98649636 | Human | 1 | name |
| 405192894 | CV3069974 | single nucleotide variant | NM_000875.5(IGF1R):c.795G>A (p.Pro265=) | not provided [RCV003729762] | likely benign | 15 | 98891479 | 98891479 | Human | | name |
| 405029239 | CV3080494 | single nucleotide variant | NM_000875.5(IGF1R):c.606C>T (p.Asn202=) | not provided [RCV003739016] | likely benign | 15 | 98708073 | 98708073 | Human | | name |
| 405084463 | CV3137653 | single nucleotide variant | NM_000875.5(IGF1R):c.954C>T (p.Ser318=) | not provided [RCV003834362] | uncertain significance | 15 | 98896757 | 98896757 | Human | | name |
| 405234662 | CV3155564 | single nucleotide variant | NM_000875.5(IGF1R):c.729C>T (p.Asp243=) | not provided [RCV003853542] | likely benign | 15 | 98891413 | 98891413 | Human | | name |
| 405246330 | CV3162289 | single nucleotide variant | NM_000875.5(IGF1R):c.330A>G (p.Lys110=) | not provided [RCV003868808] | likely benign | 15 | 98707797 | 98707797 | Human | | name |
| 596927279 | CV3532547 | single nucleotide variant | NM_000875.5(IGF1R):c.74T>G (p.Leu25Arg) | Inborn genetic diseases [RCV004987230]|not provided [RCV004778645] | uncertain significance | 15 | 98649655 | 98649655 | Human | 1 | name |
| 597918183 | CV3737803 | single nucleotide variant | NM_000875.5(IGF1R):c.29C>G (p.Pro10Arg) | not provided [RCV005074402] | uncertain significance | 15 | 98649610 | 98649610 | Human | | name |
| 597834471 | CV3739506 | single nucleotide variant | NM_000875.5(IGF1R):c.585C>T (p.Thr195=) | not provided [RCV005063725] | likely benign | 15 | 98708052 | 98708052 | Human | | name |
| 597949541 | CV3745980 | single nucleotide variant | NM_000875.5(IGF1R):c.541C>T (p.Leu181=) | not provided [RCV005079164] | likely benign | 15 | 98708008 | 98708008 | Human | | name |
| 597847853 | CV3746407 | single nucleotide variant | NM_000875.5(IGF1R):c.684T>C (p.Asn228=) | not provided [RCV005060225] | likely benign | 15 | 98891368 | 98891368 | Human | | name |
| 597857024 | CV3758872 | single nucleotide variant | NM_000875.5(IGF1R):c.675C>T (p.Thr225=) | not provided [RCV005088832] | likely benign | 15 | 98891359 | 98891359 | Human | | name |
| 597846980 | CV3761960 | single nucleotide variant | NM_000875.5(IGF1R):c.450T>C (p.Cys150=) | not provided [RCV005087378] | likely benign | 15 | 98707917 | 98707917 | Human | | name |
| 597847718 | CV3775575 | single nucleotide variant | NM_000875.5(IGF1R):c.393C>T (p.Tyr131=) | not provided [RCV005123305] | likely benign | 15 | 98707860 | 98707860 | Human | | name |
| 597850966 | CV3785507 | single nucleotide variant | NM_000875.5(IGF1R):c.903C>T (p.Gly301=) | not provided [RCV005126093] | uncertain significance | 15 | 98891587 | 98891587 | Human | | name |
| 597864684 | CV3795300 | single nucleotide variant | NM_000875.5(IGF1R):c.47T>A (p.Leu16His) | not provided [RCV005138992] | uncertain significance | 15 | 98649628 | 98649628 | Human | | name |
| 597862920 | CV3796197 | single nucleotide variant | NM_000875.5(IGF1R):c.900C>T (p.Asp300=) | not provided [RCV005137014] | likely benign | 15 | 98891584 | 98891584 | Human | | name |
| 597884863 | CV3812462 | single nucleotide variant | NM_000875.5(IGF1R):c.80C>A (p.Pro27Gln) | not provided [RCV005159672] | uncertain significance | 15 | 98649661 | 98649661 | Human | | name |
| 597903811 | CV3822911 | single nucleotide variant | NM_000875.5(IGF1R):c.819C>T (p.Gly273=) | not provided [RCV005178237] | likely benign | 15 | 98891503 | 98891503 | Human | | name |
| 597918280 | CV3840905 | single nucleotide variant | NM_000875.5(IGF1R):c.897C>T (p.His299=) | not provided [RCV005193198] | likely benign | 15 | 98891581 | 98891581 | Human | | name |
| 597914254 | CV3852327 | single nucleotide variant | NM_000875.5(IGF1R):c.936C>T (p.Ile312=) | not provided [RCV005189404] | likely benign | 15 | 98891620 | 98891620 | Human | | name |
| 597925325 | CV3859359 | single nucleotide variant | NM_000875.5(IGF1R):c.771C>T (p.Ala257=) | not provided [RCV005200015] | likely benign | 15 | 98891455 | 98891455 | Human | | name |
| 598124811 | CV3885409 | single nucleotide variant | NM_000875.5(IGF1R):c.798C>T (p.Pro266=) | not specified [RCV005239986] | likely benign | 15 | 98891482 | 98891482 | Human | | name |
| 616935095 | CV4009299 | single nucleotide variant | NM_000875.5(IGF1R):c.32C>T (p.Thr11Ile) | not provided [RCV005402471] | uncertain significance | 15 | 98649613 | 98649613 | Human | | name |
| 15014845 | CV623655 | single nucleotide variant | NM_000875.5(IGF1R):c.384T>C (p.Ile128=) | Growth delay due to insulin-like growth factor I resistance [RCV000852352] | pathogenic | 15 | 98707851 | 98707851 | Human | 1 | name |
| 15191332 | CV726371 | single nucleotide variant | NM_000875.5(IGF1R):c.723G>A (p.Ala241=) | not provided [RCV000888349] | likely benign | 15 | 98891407 | 98891407 | Human | | name |
| 15177852 | CV739899 | single nucleotide variant | NM_000875.5(IGF1R):c.873C>T (p.Ser291=) | not provided [RCV000906744]|not specified [RCV005056671] | likely benign | 15 | 98891557 | 98891557 | Human | | name |
| 15143448 | CV754814 | single nucleotide variant | NM_000875.5(IGF1R):c.549A>G (p.Pro183=) | not provided [RCV000922193] | likely benign | 15 | 98708016 | 98708016 | Human | | name |
| 15194128 | CV754815 | single nucleotide variant | NM_000875.5(IGF1R):c.654G>A (p.Thr218=) | not provided [RCV000911036] | likely benign | 15 | 98891338 | 98891338 | Human | | name |
| 15103287 | CV770458 | single nucleotide variant | NM_000875.5(IGF1R):c.687G>A (p.Glu229=) | not provided [RCV000937167] | likely benign | 15 | 98891371 | 98891371 | Human | | name |
| 28875378 | CV874339 | single nucleotide variant | NM_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 significance | 15 | 98708004 | 98708004 | Human | 1 | name |
| 38464878 | CV961656 | single nucleotide variant | NM_000875.5(IGF1R):c.71C>T (p.Ser24Leu) | Growth delay due to insulin-like growth factor I resistance [RCV001249834]|not provided [RCV003669214] | uncertain significance | 15 | 98649652 | 98649652 | Human | 1 | name |
| 38598387 | CV964437 | single nucleotide variant | NM_000875.5(IGF1R):c.43G>A (p.Gly15Arg) | Growth delay due to insulin-like growth factor I resistance [RCV001253565] | uncertain significance | 15 | 98649624 | 98649624 | Human | 1 | name |
| 126725431 | CV1018013 | single nucleotide variant | NM_000875.5(IGF1R):c.127T>C (p.Tyr43His) | Growth delay due to insulin-like growth factor I resistance [RCV001331395] | uncertain significance | 15 | 98707594 | 98707594 | Human | | name |
| 126725440 | CV1018014 | single nucleotide variant | NM_000875.5(IGF1R):c.236C>T (p.Thr79Met) | Growth delay due to insulin-like growth factor I resistance [RCV001331399]|not provided [RCV005428175] | uncertain significance | 15 | 98707703 | 98707703 | Human | 1 | name |
| 151860524 | CV1400186 | single nucleotide variant | NM_000875.5(IGF1R):c.2934G>A (p.Pro978=) | not provided [RCV001980063] | likely benign|uncertain significance | 15 | 98930283 | 98930283 | Human | | name |
| 152121340 | CV1521431 | single nucleotide variant | NM_000875.5(IGF1R):c.1143C>T (p.Ile381=) | not provided [RCV002135746] | likely benign | 15 | 98899517 | 98899517 | Human | | name |
| 152049296 | CV1585523 | single nucleotide variant | NM_000875.5(IGF1R):c.1212C>T (p.Asn404=) | not provided [RCV002145476] | likely benign | 15 | 98899586 | 98899586 | Human | | name |
| 152030927 | CV1593302 | single nucleotide variant | NM_000875.5(IGF1R):c.2814C>T (p.Ile938=) | not provided [RCV002106042] | likely benign | 15 | 98929589 | 98929589 | Human | | name |
| 153302203 | CV1688110 | single nucleotide variant | NM_000875.5(IGF1R):c.190A>G (p.Ile64Val) | not provided [RCV002265336] | uncertain significance | 15 | 98707657 | 98707657 | Human | | name |
| 155731781 | CV1780998 | single nucleotide variant | NM_000875.5(IGF1R):c.208T>G (p.Tyr70Asp) | not provided [RCV002308786] | uncertain significance | 15 | 98707675 | 98707675 | Human | | name |
| 156384718 | CV1874756 | single nucleotide variant | NM_000875.5(IGF1R):c.2022C>T (p.Ala674=) | not provided [RCV003050768] | likely benign | 15 | 98916697 | 98916697 | Human | | name |
| 155945555 | CV1875433 | single nucleotide variant | NM_000875.5(IGF1R):c.2895C>T (p.Ser965=) | not provided [RCV003073823] | likely benign | 15 | 98930244 | 98930244 | Human | | name |
| 156403604 | CV1885845 | single nucleotide variant | NM_000875.5(IGF1R):c.1155G>A (p.Thr385=) | not provided [RCV003069509] | likely benign | 15 | 98899529 | 98899529 | Human | | name |
| 156403642 | CV1886338 | single nucleotide variant | NM_000875.5(IGF1R):c.2424C>T (p.His808=) | not provided [RCV003069518] | likely benign | 15 | 98922370 | 98922370 | Human | | name |
| 10049673 | CV190772 | single nucleotide variant | NM_000875.5(IGF1R):c.2121C>T (p.Ala707=) | not provided [RCV000173715]|not specified [RCV004782281] | likely benign|conflicting interpretations of pathogenicity|uncertain significance | 15 | 98916796 | 98916796 | Human | | name |
| 10047702 | CV190981 | single nucleotide variant | NM_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] | benign | 15 | 98922244 | 98922244 | Human | 1 | name |
| 156015648 | CV1912771 | single nucleotide variant | NM_000875.5(IGF1R):c.1863G>A (p.Ser621=) | not provided [RCV002619129] | likely benign | 15 | 98915998 | 98915998 | Human | | name |
| 10047822 | CV191348 | single nucleotide variant | NM_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 benign | 15 | 98924602 | 98924602 | Human | 1 | name |
| 156375688 | CV1917558 | single nucleotide variant | NM_000875.5(IGF1R):c.2709C>T (p.Ala903=) | not provided [RCV002603558] | likely benign | 15 | 98924611 | 98924611 | Human | | name |
| 155952063 | CV1922021 | single nucleotide variant | NM_000875.5(IGF1R):c.2697G>C (p.Gly899=) | not provided [RCV002616278] | likely benign | 15 | 98924599 | 98924599 | Human | | name |
| 156447299 | CV1944942 | single nucleotide variant | NM_000875.5(IGF1R):c.1659C>T (p.Asp553=) | not provided [RCV003118826] | likely benign | 15 | 98913113 | 98913113 | Human | | name |
| 156249391 | CV1953733 | single nucleotide variant | NM_000875.5(IGF1R):c.2493A>G (p.Ala831=) | not provided [RCV002576490] | likely benign | 15 | 98923883 | 98923883 | Human | | name |
| 10049234 | CV196202 | single nucleotide variant | NM_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] | benign | 15 | 98916049 | 98916049 | Human | 1 | name |
| 156217039 | CV1963370 | single nucleotide variant | NM_000875.5(IGF1R):c.1728G>A (p.Gln576=) | not provided [RCV002575371] | likely benign | 15 | 98913182 | 98913182 | Human | | name |
| 156415983 | CV1966375 | single nucleotide variant | NM_000875.5(IGF1R):c.2481C>T (p.Pro827=) | not provided [RCV002589464] | likely benign | 15 | 98922427 | 98922427 | Human | | name |
| 156416020 | CV1983888 | single nucleotide variant | NM_000875.5(IGF1R):c.1965C>T (p.Gly655=) | not provided [RCV002609954] | likely benign | 15 | 98916100 | 98916100 | Human | | name |
| 156392705 | CV1986438 | single nucleotide variant | NM_000875.5(IGF1R):c.2211G>A (p.Arg737=) | not provided [RCV002604817] | likely benign | 15 | 98922157 | 98922157 | Human | | name |
| 156415392 | CV1991011 | single nucleotide variant | NM_000875.5(IGF1R):c.1185C>T (p.Ala395=) | not provided [RCV002609645] | likely benign | 15 | 98899559 | 98899559 | Human | | name |
| 156235793 | CV1999578 | single nucleotide variant | NM_000875.5(IGF1R):c.2448C>T (p.Ser816=) | not provided [RCV002667751] | likely benign | 15 | 98922394 | 98922394 | Human | | name |
| 156318875 | CV2014326 | single nucleotide variant | NM_000875.5(IGF1R):c.212G>A (p.Arg71His) | not provided [RCV002672062] | uncertain significance | 15 | 98707679 | 98707679 | Human | | name |
| 156176901 | CV2023117 | single nucleotide variant | NM_000875.5(IGF1R):c.2806C>T (p.Leu936=) | not provided [RCV002765491] | likely benign | 15 | 98929581 | 98929581 | Human | | name |
| 156204112 | CV2034869 | single nucleotide variant | NM_000875.5(IGF1R):c.1551C>T (p.Tyr517=) | not provided [RCV002766350] | likely benign | 15 | 98911403 | 98911403 | Human | | name |
| 156212274 | CV2036979 | single nucleotide variant | NM_000875.5(IGF1R):c.1929C>T (p.Tyr643=) | not provided [RCV002790289] | likely benign | 15 | 98916064 | 98916064 | Human | | name |
| 156208415 | CV2042407 | single nucleotide variant | NM_000875.5(IGF1R):c.2559G>A (p.Pro853=) | not provided [RCV002766505] | likely benign | 15 | 98923949 | 98923949 | Human | | name |
| 155907763 | CV2044426 | single nucleotide variant | NM_000875.5(IGF1R):c.1902C>T (p.Pro634=) | not provided [RCV002771360] | likely benign | 15 | 98916037 | 98916037 | Human | | name |
| 156312433 | CV2063508 | single nucleotide variant | NM_000875.5(IGF1R):c.1281C>T (p.Asn427=) | not provided [RCV002834201] | likely benign | 15 | 98908718 | 98908718 | Human | | name |
| 155946966 | CV2068866 | single nucleotide variant | NM_000875.5(IGF1R):c.2670G>A (p.Gly890=) | not provided [RCV002862128] | likely benign | 15 | 98924572 | 98924572 | Human | | name |
| 156234540 | CV2072296 | single nucleotide variant | NM_000875.5(IGF1R):c.2412C>T (p.His804=) | not provided [RCV002830177] | likely benign | 15 | 98922358 | 98922358 | Human | | name |
| 156009005 | CV2075382 | single nucleotide variant | NM_000875.5(IGF1R):c.1791C>T (p.Ala597=) | not provided [RCV002843768] | likely benign | 15 | 98913245 | 98913245 | Human | | name |
| 156119357 | CV2083012 | single nucleotide variant | NM_000875.5(IGF1R):c.1227A>G (p.Leu409=) | not provided [RCV002871200] | likely benign | 15 | 98899601 | 98899601 | Human | | name |
| 155981986 | CV2090590 | single nucleotide variant | NM_000875.5(IGF1R):c.2802C>A (p.Ile934=) | not provided [RCV002881979] | likely benign | 15 | 98929577 | 98929577 | Human | | name |
| 155997823 | CV2106575 | single nucleotide variant | NM_000875.5(IGF1R):c.1215T>G (p.Leu405=) | not provided [RCV002947642] | likely benign | 15 | 98899589 | 98899589 | Human | | name |
| 156361025 | CV2126462 | single nucleotide variant | NM_000875.5(IGF1R):c.296T>A (p.Leu99His) | not provided [RCV002966983] | uncertain significance | 15 | 98707763 | 98707763 | Human | | name |
| 155907558 | CV2130889 | single nucleotide variant | NM_000875.5(IGF1R):c.1731C>T (p.Tyr577=) | not provided [RCV002967806] | likely benign | 15 | 98913185 | 98913185 | Human | | name |
| 156112625 | CV2154269 | single nucleotide variant | NM_000875.5(IGF1R):c.1804T>C (p.Leu602=) | not provided [RCV003021477] | likely benign | 15 | 98913258 | 98913258 | Human | | name |
| 156306419 | CV2157437 | single nucleotide variant | NM_000875.5(IGF1R):c.2982G>T (p.Val994=) | not provided [RCV003028343] | likely benign | 15 | 98934849 | 98934849 | Human | | name |
| 156323476 | CV2173676 | single nucleotide variant | NM_000875.5(IGF1R):c.1716G>A (p.Lys572=) | not provided [RCV003046774] | likely benign | 15 | 98913170 | 98913170 | Human | | name |
| 156279862 | CV2186779 | single nucleotide variant | NM_000875.5(IGF1R):c.289G>A (p.Gly97Arg) | not provided [RCV003044744] | uncertain significance | 15 | 98707756 | 98707756 | Human | | name |
| 156269016 | CV2189407 | single nucleotide variant | NM_000875.5(IGF1R):c.2259A>T (p.Arg753=) | not provided [RCV003044386] | likely benign | 15 | 98922205 | 98922205 | Human | | name |
| 156154932 | CV2190775 | single nucleotide variant | NM_000875.5(IGF1R):c.1533G>A (p.Arg511=) | not provided [RCV003040498] | likely benign | 15 | 98911385 | 98911385 | Human | | name |
| 11580188 | CV266452 | single nucleotide variant | NM_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 significance | 15 | 98916085 | 98916085 | Human | 1 | name |
| 11636466 | CV270525 | single nucleotide variant | NM_000875.5(IGF1R):c.1485C>T (p.Phe495=) | not provided [RCV000268164] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 98911337 | 98911337 | Human | | name |
| 401830655 | CV2748279 | single nucleotide variant | NM_000875.5(IGF1R):c.280G>A (p.Glu94Lys) | not provided [RCV003329888] | uncertain significance | 15 | 98707747 | 98707747 | Human | | name |
| 401875175 | CV2749879 | single nucleotide variant | NM_000875.5(IGF1R):c.119G>A (p.Arg40His) | Growth delay due to insulin-like growth factor I resistance [RCV003333272] | uncertain significance | 15 | 98707586 | 98707586 | Human | 1 | name |
| 401943635 | CV2840118 | single nucleotide variant | NM_000875.5(IGF1R):c.2403C>T (p.Ile801=) | not provided [RCV003456904] | likely benign | 15 | 98922349 | 98922349 | Human | | name |
| 405090919 | CV2859323 | single nucleotide variant | NM_000875.5(IGF1R):c.100G>C (p.Gly34Arg) | not provided [RCV003549840] | uncertain significance | 15 | 98707567 | 98707567 | Human | | name |
| 405074068 | CV2873101 | single nucleotide variant | NM_000875.5(IGF1R):c.1401G>C (p.Gly467=) | not provided [RCV003548707] | likely benign | 15 | 98908838 | 98908838 | Human | | name |
| 405049271 | CV2886947 | single nucleotide variant | NM_000875.5(IGF1R):c.1848C>T (p.Asp616=) | not provided [RCV003579672] | uncertain significance | 15 | 98915983 | 98915983 | Human | | name |
| 405223491 | CV2887518 | single nucleotide variant | NM_000875.5(IGF1R):c.1962C>T (p.Asp654=) | not provided [RCV003554280] | likely benign | 15 | 98916097 | 98916097 | Human | | name |
| 402473335 | CV2908909 | single nucleotide variant | NM_000875.5(IGF1R):c.1683C>T (p.Asp561=) | not provided [RCV003570971] | benign | 15 | 98913137 | 98913137 | Human | | name |
| 405203378 | CV2915215 | single nucleotide variant | NM_000875.5(IGF1R):c.2523G>A (p.Glu841=) | not provided [RCV003566190] | likely benign | 15 | 98923913 | 98923913 | Human | | name |
| 402474726 | CV2915922 | single nucleotide variant | NM_000875.5(IGF1R):c.2913G>A (p.Val971=) | not provided [RCV003571229] | likely benign | 15 | 98930262 | 98930262 | Human | | name |
| 402500300 | CV2923057 | single nucleotide variant | NM_000875.5(IGF1R):c.2703C>T (p.Tyr901=) | not provided [RCV003573920] | likely benign | 15 | 98924605 | 98924605 | Human | | name |
| 405121072 | CV2952292 | single nucleotide variant | NM_000875.5(IGF1R):c.2445C>T (p.Cys815=) | not provided [RCV003671402] | likely benign | 15 | 98922391 | 98922391 | Human | | name |
| 405227408 | CV2963377 | single nucleotide variant | NM_000875.5(IGF1R):c.2763C>T (p.Phe921=) | not provided [RCV003681570] | likely benign | 15 | 98924665 | 98924665 | Human | | name |
| 405231075 | CV2964434 | single nucleotide variant | NM_000875.5(IGF1R):c.1695C>G (p.Gly565=) | not provided [RCV003682202] | likely benign | 15 | 98913149 | 98913149 | Human | | name |
| 405246495 | CV2970146 | single nucleotide variant | NM_000875.5(IGF1R):c.245C>T (p.Thr82Ile) | not provided [RCV003685438] | uncertain significance | 15 | 98707712 | 98707712 | Human | | name |
| 405239708 | CV2979969 | single nucleotide variant | NM_000875.5(IGF1R):c.2352C>T (p.Asn784=) | not provided [RCV003683788] | likely benign | 15 | 98922298 | 98922298 | Human | | name |
| 8564455 | CV29831 | single nucleotide variant | NM_000875.5(IGF1R):c.265C>T (p.Arg89Ter) | Growth delay due to insulin-like growth factor I resistance [RCV000015915] | pathogenic|protective | 15 | 98707732 | 98707732 | Human | 1 | name |
| 402512971 | CV2991355 | single nucleotide variant | NM_000875.5(IGF1R):c.2745G>T (p.Ser915=) | not provided [RCV003689704] | likely benign | 15 | 98924647 | 98924647 | Human | | name |
| 402521204 | CV3002439 | single nucleotide variant | NM_000875.5(IGF1R):c.148G>T (p.Glu50Ter) | not provided [RCV003690202] | pathogenic | 15 | 98707615 | 98707615 | Human | | name |
| 402503943 | CV3041838 | single nucleotide variant | NM_000875.5(IGF1R):c.1857A>G (p.Ser619=) | not provided [RCV003715022] | likely benign | 15 | 98915992 | 98915992 | Human | | name |
| 405253674 | CV3044905 | single nucleotide variant | NM_000875.5(IGF1R):c.1083C>G (p.Leu361=) | not provided [RCV003722640] | likely benign | 15 | 98896886 | 98896886 | Human | | name |
| 405129817 | CV3054562 | single nucleotide variant | NM_000875.5(IGF1R):c.1225C>T (p.Leu409=) | not provided [RCV003724725] | likely benign | 15 | 98899599 | 98899599 | Human | | name |
| 405206795 | CV3064412 | single nucleotide variant | NM_000875.5(IGF1R):c.2613A>T (p.Ser871=) | not provided [RCV003731413] | likely benign | 15 | 98924003 | 98924003 | Human | | name |
| 405086897 | CV3122123 | single nucleotide variant | NM_000875.5(IGF1R):c.2391A>G (p.Thr797=) | not provided [RCV003810878] | likely benign | 15 | 98922337 | 98922337 | Human | | name |
| 405172337 | CV3122826 | single nucleotide variant | NM_000875.5(IGF1R):c.1290A>G (p.Gln430=) | not provided [RCV003819224] | likely benign | 15 | 98908727 | 98908727 | Human | | name |
| 405112781 | CV3133651 | single nucleotide variant | NM_000875.5(IGF1R):c.1266C>A (p.Val422=) | not provided [RCV003836444] | likely benign | 15 | 98908703 | 98908703 | Human | | name |
| 405088734 | CV3138142 | single nucleotide variant | NM_000875.5(IGF1R):c.1269C>T (p.Leu423=) | not provided [RCV003834660] | likely benign | 15 | 98908706 | 98908706 | Human | | name |
| 405071009 | CV3145336 | single nucleotide variant | NM_000875.5(IGF1R):c.1921C>T (p.Leu641=) | not provided [RCV003850921] | likely benign | 15 | 98916056 | 98916056 | Human | | name |
| 405173888 | CV3151928 | single nucleotide variant | NM_000875.5(IGF1R):c.1734C>T (p.Ala578=) | not provided [RCV003858079] | likely benign | 15 | 98913188 | 98913188 | Human | | name |
| 405045999 | CV3154532 | single nucleotide variant | NM_000875.5(IGF1R):c.1329A>T (p.Ala443=) | not provided [RCV003849208] | likely benign | 15 | 98908766 | 98908766 | Human | | name |
| 405143719 | CV3155723 | single nucleotide variant | NM_000875.5(IGF1R):c.2392T>C (p.Leu798=) | not provided [RCV003855765] | likely benign | 15 | 98922338 | 98922338 | Human | | name |
| 405215397 | CV3160701 | single nucleotide variant | NM_000875.5(IGF1R):c.2844G>C (p.Val948=) | not provided [RCV003862763] | likely benign | 15 | 98929619 | 98929619 | Human | | name |
| 405253437 | CV3174455 | single nucleotide variant | NM_000875.5(IGF1R):c.2961C>T (p.Tyr987=) | not provided [RCV003871084] | likely benign | 15 | 98934828 | 98934828 | Human | | name |
| 11605280 | CV323620 | single nucleotide variant | NM_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 significance | 15 | 98929643 | 98929643 | Human | 1 | name |
| 11615237 | CV340127 | single nucleotide variant | NM_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 significance | 15 | 98924647 | 98924647 | Human | 1 | name |
| 407427249 | CV3411827 | single nucleotide variant | NM_000875.5(IGF1R):c.166G>A (p.Glu56Lys) | not provided [RCV004591998] | uncertain significance | 15 | 98707633 | 98707633 | Human | | name |
| 407503640 | CV3495837 | single nucleotide variant | NM_000875.5(IGF1R):c.247G>A (p.Glu83Lys) | not provided [RCV004697677] | uncertain significance | 15 | 98707714 | 98707714 | Human | | name |
| 408378223 | CV3500926 | single nucleotide variant | NM_000875.5(IGF1R):c.1632C>T (p.Cys544=) | not provided [RCV004722576] | likely benign | 15 | 98913086 | 98913086 | Human | | name |
| 408394457 | CV3518273 | single nucleotide variant | NM_000875.5(IGF1R):c.100G>A (p.Gly34Arg) | Growth delay due to insulin-like growth factor I resistance [RCV004759596]|not provided [RCV005104907] | uncertain significance | 15 | 98707567 | 98707567 | Human | 1 | name |
| 596931446 | CV3531782 | single nucleotide variant | NM_000875.5(IGF1R):c.202G>A (p.Glu68Lys) | not provided [RCV004781344] | uncertain significance | 15 | 98707669 | 98707669 | Human | | name |
| 597654417 | CV3551631 | duplication | NM_000875.5(IGF1R):c.699dup (p.Glu234fs) | Growth delay due to insulin-like growth factor I resistance [RCV004820344] | likely pathogenic | 15 | 98891379 | 98891380 | Human | 1 | name |
| 597929296 | CV3749238 | single nucleotide variant | NM_000875.5(IGF1R):c.2574C>G (p.Pro858=) | not provided [RCV005075694] | likely benign | 15 | 98923964 | 98923964 | Human | | name |
| 597961597 | CV3753282 | single nucleotide variant | NM_000875.5(IGF1R):c.1500G>T (p.Thr500=) | not provided [RCV005081782] | likely benign | 15 | 98911352 | 98911352 | Human | | name |
| 597956169 | CV3754550 | single nucleotide variant | NM_000875.5(IGF1R):c.1206A>C (p.Leu402=) | not provided [RCV005080400] | likely benign | 15 | 98899580 | 98899580 | Human | | name |
| 597864857 | CV3791442 | single nucleotide variant | NM_000875.5(IGF1R):c.1989C>T (p.Cys663=) | not provided [RCV005139196] | likely benign | 15 | 98916124 | 98916124 | Human | | name |
| 597880406 | CV3811644 | single nucleotide variant | NM_000875.5(IGF1R):c.1398G>A (p.Thr466=) | not provided [RCV005155475] | likely benign | 15 | 98908835 | 98908835 | Human | | name |
| 597886739 | CV3815930 | single nucleotide variant | NM_000875.5(IGF1R):c.2898G>A (p.Arg966=) | not provided [RCV005161682] | likely benign | 15 | 98930247 | 98930247 | Human | | name |
| 597884314 | CV3819391 | single nucleotide variant | NM_000875.5(IGF1R):c.1335A>G (p.Lys445=) | not provided [RCV005159201] | likely benign | 15 | 98908772 | 98908772 | Human | | name |
| 597899157 | CV3825101 | single nucleotide variant | NM_000875.5(IGF1R):c.221G>A (p.Arg74His) | not provided [RCV005173949] | uncertain significance | 15 | 98707688 | 98707688 | Human | | name |
| 597894606 | CV3832811 | single nucleotide variant | NM_000875.5(IGF1R):c.1266C>T (p.Val422=) | not provided [RCV005169370] | likely benign | 15 | 98908703 | 98908703 | Human | | name |
| 597918871 | CV3837841 | single nucleotide variant | NM_000875.5(IGF1R):c.1477C>T (p.Leu493=) | not provided [RCV005193825] | likely benign | 15 | 98911329 | 98911329 | Human | | name |
| 597905421 | CV3840185 | single nucleotide variant | NM_000875.5(IGF1R):c.2232A>G (p.Gln744=) | not provided [RCV005179884] | likely benign | 15 | 98922178 | 98922178 | Human | | name |
| 597913526 | CV3847920 | single nucleotide variant | NM_000875.5(IGF1R):c.2607C>T (p.Tyr869=) | not provided [RCV005188650] | likely benign | 15 | 98923997 | 98923997 | Human | | name |
| 598235782 | CV3893527 | single nucleotide variant | NM_000875.5(IGF1R):c.251A>G (p.Tyr84Cys) | not provided [RCV005256260] | uncertain significance | 15 | 98707718 | 98707718 | Human | | name |
| 12893248 | CV409435 | deletion | NM_000875.5(IGF1R):c.323del (p.Gly108fs) | not provided [RCV000478317] | likely pathogenic | 15 | 98707789 | 98707789 | Human | | name |
| 13471011 | CV440332 | single nucleotide variant | NM_000875.5(IGF1R):c.119G>T (p.Arg40Leu) | Growth delay due to insulin-like growth factor I resistance [RCV000516171] | protective | 15 | 98707586 | 98707586 | Human | 1 | name |
| 13523847 | CV489116 | single nucleotide variant | NM_000875.5(IGF1R):c.1692C>T (p.Pro564=) | not provided [RCV000593509] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 98913146 | 98913146 | Human | | name |
| 13522663 | CV489419 | single nucleotide variant | NM_000875.5(IGF1R):c.2784A>G (p.Thr928=) | not provided [RCV000592017] | uncertain significance | 15 | 98929559 | 98929559 | Human | | name |
| 13833662 | CV584899 | duplication | NM_000875.5(IGF1R):c.418dup (p.Ala140fs) | not provided [RCV000728990] | pathogenic | 15 | 98707879 | 98707880 | Human | | name |
| 13837380 | CV588669 | single nucleotide variant | NM_000875.5(IGF1R):c.1680G>A (p.Lys560=) | not provided [RCV000733783] | conflicting interpretations of pathogenicity|uncertain significance | 15 | 98913134 | 98913134 | Human | | name |
| 15014844 | CV623654 | single nucleotide variant | NM_000875.5(IGF1R):c.118C>T (p.Arg40Cys) | Growth delay due to insulin-like growth factor I resistance [RCV000852351] | likely pathogenic | 15 | 98707585 | 98707585 | Human | 1 | name |
| 15150158 | CV726374 | single nucleotide variant | NM_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 significance | 15 | 98899568 | 98899568 | Human | 1 | name |
| 15181639 | CV726375 | single nucleotide variant | NM_000875.5(IGF1R):c.1452G>A (p.Glu484=) | not provided [RCV000885810] | likely benign | 15 | 98908889 | 98908889 | Human | | name |
| 15152497 | CV739900 | single nucleotide variant | NM_000875.5(IGF1R):c.1164G>A (p.Val388=) | not provided [RCV000901578] | likely benign | 15 | 98899538 | 98899538 | Human | | name |
| 15124013 | CV739901 | single nucleotide variant | NM_000875.5(IGF1R):c.1638C>T (p.Ser546=) | not provided [RCV000896512] | likely benign | 15 | 98913092 | 98913092 | Human | | name |
| 15157568 | CV739902 | single nucleotide variant | NM_000875.5(IGF1R):c.1773C>T (p.Asn591=) | not provided [RCV000902555] | benign | 15 | 98913227 | 98913227 | Human | | name |
| 15164028 | CV739903 | single nucleotide variant | NM_000875.5(IGF1R):c.1965C>A (p.Gly655=) | not provided [RCV000903909] | likely benign | 15 | 98916100 | 98916100 | Human | | name |
| 15138662 | CV754816 | single nucleotide variant | NM_000875.5(IGF1R):c.1035T>G (p.Thr345=) | not provided [RCV000921374] | benign | 15 | 98896838 | 98896838 | Human | | name |
| 15155343 | CV754817 | single nucleotide variant | NM_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 significance | 15 | 98908838 | 98908838 | Human | 1 | name |
| 15135768 | CV754818 | single nucleotide variant | NM_000875.5(IGF1R):c.2274G>A (p.Thr758=) | not provided [RCV000920904] | benign | 15 | 98922220 | 98922220 | Human | | name |
| 15170011 | CV754820 | single nucleotide variant | NM_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 significance | 15 | 98924632 | 98924632 | Human | 1 | name |
| 15104603 | CV754821 | single nucleotide variant | NM_000875.5(IGF1R):c.2823C>T (p.Pro941=) | not provided [RCV000915382] | likely benign | 15 | 98929598 | 98929598 | Human | | name |
| 15142640 | CV770459 | single nucleotide variant | NM_000875.5(IGF1R):c.1371C>T (p.Ser457=) | not provided [RCV000944110] | likely benign | 15 | 98908808 | 98908808 | Human | | name |
| 15101235 | CV770460 | single nucleotide variant | NM_000875.5(IGF1R):c.2769T>C (p.Tyr923=) | not provided [RCV000936763] | likely benign | 15 | 98924671 | 98924671 | Human | | name |
| 15100560 | CV785080 | single nucleotide variant | NM_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 significance | 15 | 98911355 | 98911355 | Human | 1 | name |
| 15131546 | CV785081 | single nucleotide variant | NM_000875.5(IGF1R):c.1866C>T (p.Asn622=) | not provided [RCV000981231] | likely benign | 15 | 98916001 | 98916001 | Human | | name |
| 15103434 | CV785082 | single nucleotide variant | NM_000875.5(IGF1R):c.2133C>T (p.Ala711=) | not provided [RCV000976017] | likely benign | 15 | 98916808 | 98916808 | Human | | name |
| 28885110 | CV874341 | single nucleotide variant | NM_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 significance | 15 | 98899535 | 98899535 | Human | 1 | name |
| 28891247 | CV874343 | single nucleotide variant | NM_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 significance | 15 | 98913125 | 98913125 | Human | 1 | name |
| 28880190 | CV874347 | single nucleotide variant | NM_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 significance | 15 | 98922406 | 98922406 | Human | 1 | name |
| 329401349 | CV2442180 | single nucleotide variant | NM_000875.5(IGF1R):c.800A>G (p.Asn267Ser) | Inborn genetic diseases [RCV003198230] | uncertain significance | 15 | 98891484 | 98891484 | Human | 1 | name |
| 329389193 | CV2448604 | single nucleotide variant | NM_000875.5(IGF1R):c.736A>G (p.Thr246Ala) | Inborn genetic diseases [RCV003190919]|not provided [RCV003779645] | uncertain significance | 15 | 98891420 | 98891420 | Human | 1 | name |
| 401723001 | CV2672062 | single nucleotide variant | NM_000875.5(IGF1R):c.818G>T (p.Gly273Val) | not provided [RCV003238963] | uncertain significance | 15 | 98891502 | 98891502 | Human | | name |
| 401919208 | CV2794796 | single nucleotide variant | NM_000875.5(IGF1R):c.836G>A (p.Arg279His) | not provided [RCV005104277]|not specified [RCV003388471] | uncertain significance | 15 | 98891520 | 98891520 | Human | | name |
| 401930111 | CV2814514 | single nucleotide variant | NM_000875.5(IGF1R):c.761A>T (p.Tyr254Phe) | not provided [RCV003390561] | uncertain significance | 15 | 98891445 | 98891445 | Human | | name |
| 401904528 | CV2814516 | single nucleotide variant | NM_000875.5(IGF1R):c.3348C>T (p.Ala1116=) | not provided [RCV003395056] | likely benign | 15 | 98939251 | 98939251 | Human | | name |
| 401904530 | CV2814518 | single nucleotide variant | NM_000875.5(IGF1R):c.3924G>A (p.Ser1308=) | not provided [RCV003395058] | likely benign | 15 | 98957262 | 98957262 | Human | | name |
| 401940270 | CV2832556 | single nucleotide variant | NM_000875.5(IGF1R):c.575G>A (p.Cys192Tyr) | Growth delay due to insulin-like growth factor I resistance [RCV003448536] | uncertain significance | 15 | 98708042 | 98708042 | Human | 1 | name |
| 402495515 | CV2850281 | single nucleotide variant | NM_000875.5(IGF1R):c.628C>T (p.Arg210Cys) | Growth delay due to insulin-like growth factor I resistance [RCV003486116]|not provided [RCV003661067] | uncertain significance | 15 | 98708095 | 98708095 | Human | 1 | name |
| 405094347 | CV2874700 | single nucleotide variant | NM_000875.5(IGF1R):c.526A>G (p.Lys176Glu) | not provided [RCV003550135] | uncertain significance | 15 | 98707993 | 98707993 | Human | | name |
| 402496623 | CV2875377 | single nucleotide variant | NM_000875.5(IGF1R):c.991G>A (p.Val331Ile) | not provided [RCV003545484] | uncertain significance | 15 | 98896794 | 98896794 | Human | | name |
| 405166384 | CV2905881 | single nucleotide variant | NM_000875.5(IGF1R):c.607T>C (p.Tyr203His) | not provided [RCV003562700] | uncertain significance | 15 | 98708074 | 98708074 | Human | | name |
| 402472172 | CV2912181 | single nucleotide variant | NM_000875.5(IGF1R):c.515A>G (p.Asn172Ser) | not provided [RCV003570733] | uncertain significance | 15 | 98707982 | 98707982 | Human | | name |
| 405101534 | CV2948252 | single nucleotide variant | NM_000875.5(IGF1R):c.370A>C (p.Asn124His) | not provided [RCV003666187] | uncertain significance | 15 | 98707837 | 98707837 | Human | | name |
| 405161464 | CV2950375 | single nucleotide variant | NM_000875.5(IGF1R):c.728A>G (p.Asp243Gly) | not provided [RCV003674713] | uncertain significance | 15 | 98891412 | 98891412 | Human | | name |
| 405181821 | CV2952580 | single nucleotide variant | NM_000875.5(IGF1R):c.3936C>G (p.Ser1312=) | not provided [RCV003676349] | likely benign | 15 | 98957274 | 98957274 | Human | | name |
| 8564453 | CV29829 | single nucleotide variant | NM_000875.5(IGF1R):c.413G>A (p.Arg138Gln) | Growth delay due to insulin-like growth factor I resistance [RCV000015913] | pathogenic|protective | 15 | 98707880 | 98707880 | Human | 1 | name |
| 8564454 | CV29830 | single nucleotide variant | NM_000875.5(IGF1R):c.435A>C (p.Lys145Asn) | Growth delay due to insulin-like growth factor I resistance [RCV000015914] | pathogenic|protective | 15 | 98707902 | 98707902 | Human | 1 | name |
| 402490079 | CV2984622 | single nucleotide variant | NM_000875.5(IGF1R):c.3270T>C (p.Tyr1090=) | not provided [RCV003713692] | likely benign | 15 | 98935399 | 98935399 | Human | | name |
| 402498722 | CV3015964 | single nucleotide variant | NM_000875.5(IGF1R):c.3153T>C (p.Ala1051=) | not provided [RCV003688271] | likely benign | 15 | 98935020 | 98935020 | Human | | name |
| 402484074 | CV3036772 | single nucleotide variant | NM_000875.5(IGF1R):c.320G>A (p.Arg107His) | not provided [RCV003713131] | uncertain significance | 15 | 98707787 | 98707787 | Human | | name |
| 402480729 | CV3041497 | single nucleotide variant | NM_000875.5(IGF1R):c.3657G>A (p.Glu1219=) | not provided [RCV003712816] | likely benign | 15 | 98948643 | 98948643 | Human | | name |
| 405141843 | CV3046058 | single nucleotide variant | NM_000875.5(IGF1R):c.943G>A (p.Gly315Ser) | not provided [RCV003725661] | uncertain significance | 15 | 98891627 | 98891627 | Human | | name |
| 405241534 | CV3070263 | single nucleotide variant | NM_000875.5(IGF1R):c.4023C>T (p.Asp1341=) | not provided [RCV003737376] | likely benign | 15 | 98957361 | 98957361 | Human | | name |
| 405095344 | CV3119044 | single nucleotide variant | NM_000875.5(IGF1R):c.772G>A (p.Gly258Ser) | not provided [RCV003811495]|not specified [RCV005240941] | likely benign|uncertain significance | 15 | 98891456 | 98891456 | Human | | name |
| 405162904 | CV3125216 | single nucleotide variant | NM_000875.5(IGF1R):c.784C>T (p.Pro262Ser) | not provided [RCV003818488] | uncertain significance | 15 | 98891468 | 98891468 | Human | | name |
| 404978297 | CV3127317 | single nucleotide variant | NM_000875.5(IGF1R):c.3363C>T (p.Asp1121=) | not provided [RCV003825541] | likely benign | 15 | 98939266 | 98939266 | Human | | name |
| 405059213 | CV3129394 | single nucleotide variant | NM_000875.5(IGF1R):c.986C>T (p.Pro329Leu) | not provided [RCV003832663] | uncertain significance | 15 | 98896789 | 98896789 | Human | | name |
| 405155125 | CV3135229 | single nucleotide variant | NM_000875.5(IGF1R):c.404A>G (p.Asn135Ser) | not provided [RCV003840341] | uncertain significance | 15 | 98707871 | 98707871 | Human | | name |
| 405210864 | CV3146262 | single nucleotide variant | NM_000875.5(IGF1R):c.382A>G (p.Ile128Val) | not provided [RCV003845793] | uncertain significance | 15 | 98707849 | 98707849 | Human | | name |
| 405190730 | CV3149681 | single nucleotide variant | NM_000875.5(IGF1R):c.3933G>A (p.Ser1311=) | not provided [RCV003843407] | likely benign | 15 | 98957271 | 98957271 | Human | | name |
| 405052049 | CV3150962 | single nucleotide variant | NM_000875.5(IGF1R):c.3241C>T (p.Leu1081=) | not provided [RCV003849566] | likely benign | 15 | 98935370 | 98935370 | Human | | name |
| 405247344 | CV3158764 | single nucleotide variant | NM_000875.5(IGF1R):c.3684C>T (p.Gly1228=) | not provided [RCV003869106] | likely benign | 15 | 98948670 | 98948670 | Human | | name |
| 405161125 | CV3160000 | single nucleotide variant | NM_000875.5(IGF1R):c.3033G>T (p.Gly1011=) | not provided [RCV003857071] | likely benign | 15 | 98934900 | 98934900 | Human | | name |
| 405235490 | CV3166294 | single nucleotide variant | NM_000875.5(IGF1R):c.629G>A (p.Arg210His) | not provided [RCV003853743] | uncertain significance | 15 | 98708096 | 98708096 | Human | | name |
| 404990760 | CV3176247 | single nucleotide variant | NM_000875.5(IGF1R):c.3702A>G (p.Pro1234=) | not provided [RCV003881572] | likely benign | 15 | 98948688 | 98948688 | Human | | name |
| 404979985 | CV3183290 | single nucleotide variant | NM_000875.5(IGF1R):c.3777C>T (p.Phe1259=) | not provided [RCV003880313] | likely benign | 15 | 98957115 | 98957115 | Human | | name |
| 405004102 | CV3184536 | single nucleotide variant | NM_000875.5(IGF1R):c.926C>T (p.Ser309Leu) | Growth delay due to insulin-like growth factor I resistance [RCV003883325] | uncertain significance | 15 | 98891610 | 98891610 | Human | 1 | name |
| 405701528 | CV3225998 | single nucleotide variant | NM_000875.5(IGF1R):c.822G>A (p.Trp274Ter) | Growth delay due to insulin-like growth factor I resistance [RCV003989440] | pathogenic | 15 | 98891506 | 98891506 | Human | 1 | name |
| 405691483 | CV3227481 | single nucleotide variant | NM_000875.5(IGF1R):c.803C>A (p.Thr268Asn) | Growth delay due to insulin-like growth factor I resistance [RCV003991826] | uncertain significance | 15 | 98891487 | 98891487 | Human | 1 | name |
| 405854042 | CV3395507 | single nucleotide variant | NM_000875.5(IGF1R):c.302C>G (p.Pro101Arg) | Growth delay due to insulin-like growth factor I resistance [RCV004555762] | uncertain significance | 15 | 98707769 | 98707769 | Human | 1 | name |
| 405855021 | CV3395547 | single nucleotide variant | NM_000875.5(IGF1R):c.419C>A (p.Ala140Asp) | Growth delay due to insulin-like growth factor I resistance [RCV004555795] | uncertain significance | 15 | 98707886 | 98707886 | Human | 1 | name |
| 407490800 | CV3416869 | single nucleotide variant | NM_000875.5(IGF1R):c.341A>G (p.Asn114Ser) | Growth delay due to insulin-like growth factor I resistance [RCV004666697] | uncertain significance | 15 | 98707808 | 98707808 | Human | 1 | name |
| 407503657 | CV3495839 | single nucleotide variant | NM_000875.5(IGF1R):c.823C>T (p.Arg275Cys) | not provided [RCV004697679] | uncertain significance | 15 | 98891507 | 98891507 | Human | | name |
| 408365390 | CV3499863 | single nucleotide variant | NM_000875.5(IGF1R):c.346G>A (p.Ala116Thr) | not provided [RCV004721905] | likely pathogenic | 15 | 98707813 | 98707813 | Human | | name |
| 408365301 | CV3501521 | single nucleotide variant | NM_000875.5(IGF1R):c.986C>G (p.Pro329Arg) | Growth delay due to insulin-like growth factor I resistance [RCV004720730] | uncertain significance | 15 | 98896789 | 98896789 | Human | 1 | name |
| 408387236 | CV3518765 | single nucleotide variant | NM_000875.5(IGF1R):c.385G>A (p.Gly129Arg) | not provided [RCV004761084] | uncertain significance | 15 | 98707852 | 98707852 | Human | | name |
| 408381411 | CV3523858 | single nucleotide variant | NM_000875.5(IGF1R):c.668C>A (p.Ala223Glu) | not provided [RCV004766256] | uncertain significance | 15 | 98891352 | 98891352 | Human | | name |
| 408388382 | CV3527479 | single nucleotide variant | NM_000875.5(IGF1R):c.957G>A (p.Met319Ile) | not provided [RCV004773783] | uncertain significance | 15 | 98896760 | 98896760 | Human | | name |
| 596923427 | CV3530412 | single nucleotide variant | NM_000875.5(IGF1R):c.829G>A (p.Val277Met) | not provided [RCV004777011] | uncertain significance | 15 | 98891513 | 98891513 | Human | | name |
| 596926015 | CV3530665 | single nucleotide variant | NM_000875.5(IGF1R):c.921C>A (p.Cys307Ter) | not provided [RCV004778250] | pathogenic | 15 | 98891605 | 98891605 | Human | | name |
| 596929956 | CV3531262 | single nucleotide variant | NM_000875.5(IGF1R):c.959A>G (p.Tyr320Cys) | not provided [RCV004779836] | uncertain significance | 15 | 98896762 | 98896762 | Human | | name |
| 596920554 | CV3534027 | single nucleotide variant | NM_000875.5(IGF1R):c.3987C>T (p.Pro1329=) | not specified [RCV004783245] | likely benign | 15 | 98957325 | 98957325 | Human | | name |
| 597868055 | CV3742853 | single nucleotide variant | NM_000875.5(IGF1R):c.676G>A (p.Glu226Lys) | not provided [RCV005068276] | uncertain significance | 15 | 98891360 | 98891360 | Human | | name |
| 597830225 | CV3746645 | single nucleotide variant | NM_000875.5(IGF1R):c.3447C>G (p.Val1149=) | not provided [RCV005061931] | likely benign | 15 | 98939350 | 98939350 | Human | | name |
| 597934181 | CV3750411 | single nucleotide variant | NM_000875.5(IGF1R):c.856C>G (p.Leu286Val) | not provided [RCV005076336] | uncertain significance | 15 | 98891540 | 98891540 | Human | | name |
| 597966078 | CV3751493 | single nucleotide variant | NM_000875.5(IGF1R):c.809G>C (p.Arg270Thr) | not provided [RCV005082862] | uncertain significance | 15 | 98891493 | 98891493 | Human | | name |
| 597839434 | CV3758312 | single nucleotide variant | NM_000875.5(IGF1R):c.800A>C (p.Asn267Thr) | not provided [RCV005086147] | uncertain significance | 15 | 98891484 | 98891484 | Human | | name |
| 597855604 | CV3781236 | single nucleotide variant | NM_000875.5(IGF1R):c.412C>T (p.Arg138Trp) | not provided [RCV005130118] | uncertain significance | 15 | 98707879 | 98707879 | Human | | name |
| 597887366 | CV3818089 | single nucleotide variant | NM_000875.5(IGF1R):c.883G>A (p.Gly295Arg) | not provided [RCV005162540] | uncertain significance | 15 | 98891567 | 98891567 | Human | | name |
| 597894895 | CV3829237 | single nucleotide variant | NM_000875.5(IGF1R):c.3792C>T (p.Ser1264=) | not provided [RCV005169686] | likely benign | 15 | 98957130 | 98957130 | Human | | name |
| 597902824 | CV3829672 | single nucleotide variant | NM_000875.5(IGF1R):c.3999G>A (p.Val1333=) | not provided [RCV005177380] | likely benign | 15 | 98957337 | 98957337 | Human | | name |
| 597908422 | CV3834015 | single nucleotide variant | NM_000875.5(IGF1R):c.3879G>A (p.Leu1293=) | not provided [RCV005183374] | likely benign | 15 | 98957217 | 98957217 | Human | | name |
| 597912471 | CV3836595 | single nucleotide variant | NM_000875.5(IGF1R):c.880G>A (p.Glu294Lys) | not provided [RCV005187616] | uncertain significance | 15 | 98891564 | 98891564 | Human | | name |
| 597910590 | CV3837586 | single nucleotide variant | NM_000875.5(IGF1R):c.992T>C (p.Val331Ala) | not provided [RCV005185746] | uncertain significance | 15 | 98896795 | 98896795 | Human | | name |
| 597910640 | CV3837664 | single nucleotide variant | NM_000875.5(IGF1R):c.3024G>T (p.Gly1008=) | not provided [RCV005185824] | likely benign | 15 | 98934891 | 98934891 | Human | | name |
| 597918082 | CV3840763 | single nucleotide variant | NM_000875.5(IGF1R):c.862G>A (p.Ala288Thr) | not provided [RCV005193056] | uncertain significance | 15 | 98891546 | 98891546 | Human | | name |
| 597916402 | CV3844562 | single nucleotide variant | NM_000875.5(IGF1R):c.3951C>T (p.Pro1317=) | not provided [RCV005191236] | likely benign | 15 | 98957289 | 98957289 | Human | | name |
| 597910945 | CV3844647 | single nucleotide variant | NM_000875.5(IGF1R):c.3381C>T (p.Asn1127=) | not provided [RCV005186153] | likely benign | 15 | 98939284 | 98939284 | Human | | name |
| 597831619 | CV3863878 | single nucleotide variant | NM_000875.5(IGF1R):c.919T>A (p.Cys307Ser) | Growth delay due to insulin-like growth factor I resistance [RCV005208292] | uncertain significance | 15 | 98891603 | 98891603 | Human | 1 | name |
| 598124581 | CV3883599 | single nucleotide variant | NM_000875.5(IGF1R):c.731A>G (p.Asn244Ser) | not provided [RCV005235953] | uncertain significance | 15 | 98891415 | 98891415 | Human | | name |
| 598123534 | CV3884797 | single nucleotide variant | NM_000875.5(IGF1R):c.3507A>C (p.Gly1169=) | not specified [RCV005238404] | likely benign | 15 | 98942972 | 98942972 | Human | | name |
| 598198527 | CV4007187 | single nucleotide variant | NM_000875.5(IGF1R):c.337T>C (p.Tyr113His) | Growth delay due to insulin-like growth factor I resistance [RCV005398019] | uncertain significance | 15 | 98707804 | 98707804 | Human | 1 | name |
| 598199126 | CV4007269 | single nucleotide variant | NM_000875.5(IGF1R):c.683A>G (p.Asn228Ser) | Growth delay due to insulin-like growth factor I resistance [RCV005398097] | uncertain significance | 15 | 98891367 | 98891367 | Human | 1 | name |
| 617151984 | CV4018224 | single nucleotide variant | NM_000875.5(IGF1R):c.3627C>G (p.Ala1209=) | not specified [RCV005418484] | likely benign | 15 | 98948613 | 98948613 | Human | | name |
| 28875375 | CV874338 | single nucleotide variant | NM_000875.5(IGF1R):c.457T>A (p.Ser153Thr) | Growth delay due to insulin-like growth factor I resistance [RCV001115875] | uncertain significance | 15 | 98707924 | 98707924 | Human | 1 | name |
| 28879840 | CV874340 | single nucleotide variant | NM_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 significance | 15 | 98708072 | 98708072 | Human | 1 | name |
| 28891515 | CV874348 | single nucleotide variant | NM_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 significance | 15 | 98939356 | 98939356 | Human | 1 | name |
| 28875839 | CV874350 | single nucleotide variant | NM_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 significance | 15 | 98948658 | 98948658 | Human | 1 | name |
| 28875865 | CV874355 | single nucleotide variant | NM_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 significance | 15 | 98957244 | 98957244 | Human | 1 | name |
| 40814499 | CV969399 | single nucleotide variant | NM_000875.5(IGF1R):c.302C>T (p.Pro101Leu) | Intellectual disability [RCV001260738] | uncertain significance | 15 | 98707769 | 98707769 | Human | 2 | name |