| - GRCh37:
- Chr15:99500404-99500406
- GRCh38:
- Chr15:98957175-98957177
| IGF1R | Y1280del, Y1281del | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Nov 24, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr15:99440116
- GRCh38:
- Chr15:98896887
| IGF1R, LOC126862245 | I362V | Growth delay due to insulin-like growth factor I resistance | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:99250815
- GRCh38:
- Chr15:98707586
| IGF1R | R40H | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (May 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99472873
- GRCh38:
- Chr15:98929644
| IGF1R | V956I, V957I | Growth delay due to insulin-like growth factor I resistance | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:99465390
- GRCh38:
- Chr15:98922161
| IGF1R | R739W | Growth delay due to insulin-like growth factor I resistance | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr15:99473505
- GRCh38:
- Chr15:98930276
| IGF1R | V975A, V976A | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99456497
- GRCh38:
- Chr15:98913268
| IGF1R | R605H | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99434646
- GRCh38:
- Chr15:98891417
| IGF1R | D245N | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Oct 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99500591
- GRCh38:
- Chr15:98957362
| IGF1R | E1341K, E1342K | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Oct 24, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99434578
- GRCh38:
- Chr15:98891349
| IGF1R | R222Q | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jun 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99467784
- GRCh38:
- Chr15:98924555
| IGF1R | Y885H | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99486163
- GRCh38:
- Chr15:98942934
| IGF1R | T1156A, T1157A | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99500654
- GRCh38:
- Chr15:98957425
| IGF1R | Q1362*, Q1363* | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jun 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99472814
- GRCh38:
- Chr15:98929585
| IGF1R | I936T, I937T | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99482588-99482589
- GRCh38:
- Chr15:98939359-98939360
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Likely pathogenic (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99434737
- GRCh38:
- Chr15:98891508
| IGF1R | R275H | Growth delay due to insulin-like growth factor I resistance, not provided | Conflicting interpretations of pathogenicity (May 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:99251887-99644855
| IGF1R, PGPEP1L | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Dec 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99454545
- GRCh38:
- Chr15:98911316
| IGF1R | C488W | not provided, Growth delay due to insulin-like growth factor I resistance | Conflicting interpretations of pathogenicity (Jan 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr15:99467930
- GRCh38:
- Chr15:98924701
| IGF1R | | not provided, Growth delay due to insulin-like growth factor I resistance | Benign/Likely benign (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99465361
- GRCh38:
- Chr15:98922132
| IGF1R | | not provided, Growth delay due to insulin-like growth factor I resistance | Likely benign (Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99465494-99465495
- GRCh38:
- Chr15:98922265-98922266
| IGF1R | E774fs | Growth delay due to insulin-like growth factor I resistance | Pathogenic (Feb 14, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr15:99459265-99459266
- GRCh38:
- Chr15:98916036-98916037
| IGF1R | P637fs | Growth delay due to insulin-like growth factor I resistance, Microcephaly | Likely pathogenic (Jan 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99440125
- GRCh38:
- Chr15:98896896
| IGF1R, LOC126862245 | R365* | Growth delay due to insulin-like growth factor I resistance, not provided, Intellectual disability
| Pathogenic/Likely pathogenic (May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99460059
- GRCh38:
- Chr15:98916830
| IGF1R | R719C | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (May 14, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr15:99491863
- GRCh38:
- Chr15:98948634
| IGF1R | L1215F, L1216F | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Sep 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99434650
- GRCh38:
- Chr15:98891421
| IGF1R | T246M | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Apr 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99500633
- GRCh38:
- Chr15:98957404
| IGF1R | E1355K, E1356K | Growth delay due to insulin-like growth factor I resistance, IGF1R-related condition, not provided, Inborn genetic diseases | Uncertain significance (Sep 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99491942
- GRCh38:
- Chr15:98948713
| IGF1R | | not provided, Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Dec 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99250932
- GRCh38:
- Chr15:98707703
| IGF1R | T79M | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Apr 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99459946
- GRCh38:
- Chr15:98916717
| IGF1R | E681G | not provided, Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99456445
- GRCh38:
- Chr15:98913216
| IGF1R | M588V | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99456415
- GRCh38:
- Chr15:98913186
| IGF1R | A578T | Growth delay due to insulin-like growth factor I resistance | Likely pathogenic (May 31, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr15:99465432
- GRCh38:
- Chr15:98922203
| IGF1R | R753* | Growth delay due to insulin-like growth factor I resistance, Intellectual disability | Likely pathogenic (Aug 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99482496
- GRCh38:
- Chr15:98939267
| IGF1R | G1121S, G1122S | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Feb 28, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99192853
- GRCh38:
- Chr15:98649624
| IGF1R, IRAIN | G15R | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Oct 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99486167
- GRCh38:
- Chr15:98942938
| IGF1R | R1157Q, R1158Q | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99192881
- GRCh38:
- Chr15:98649652
| IGF1R, IRAIN | S24L | Growth delay due to insulin-like growth factor I resistance | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr15:99442802
- GRCh38:
- Chr15:98899573
| IGF1R | S400F | Growth delay due to insulin-like growth factor I resistance | not provided | no assertion provided |
| - GRCh37:
- Chr15:99500376
- GRCh38:
- Chr15:98957147
| IGF1R | M1269fs, M1270fs | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Oct 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99507249
- GRCh38:
- Chr15:98964020
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99507211
- GRCh38:
- Chr15:98963982
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99507170
- GRCh38:
- Chr15:98963941
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99507016
- GRCh38:
- Chr15:98963787
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99507000
- GRCh38:
- Chr15:98963771
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506379
- GRCh38:
- Chr15:98963150
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506310
- GRCh38:
- Chr15:98963081
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505815
- GRCh38:
- Chr15:98962586
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505763
- GRCh38:
- Chr15:98962534
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505673
- GRCh38:
- Chr15:98962444
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505591
- GRCh38:
- Chr15:98962362
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505108
- GRCh38:
- Chr15:98961879
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505077
- GRCh38:
- Chr15:98961848
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505074
- GRCh38:
- Chr15:98961845
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505063
- GRCh38:
- Chr15:98961834
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99504234
- GRCh38:
- Chr15:98961005
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99504197
- GRCh38:
- Chr15:98960968
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99504142
- GRCh38:
- Chr15:98960913
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503551
- GRCh38:
- Chr15:98960322
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503483
- GRCh38:
- Chr15:98960254
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503479
- GRCh38:
- Chr15:98960250
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503356
- GRCh38:
- Chr15:98960127
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99502494
- GRCh38:
- Chr15:98959265
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99502470
- GRCh38:
- Chr15:98959241
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99502438
- GRCh38:
- Chr15:98959209
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99502434
- GRCh38:
- Chr15:98959205
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99501735
- GRCh38:
- Chr15:98958506
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99501686
- GRCh38:
- Chr15:98958457
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99501648
- GRCh38:
- Chr15:98958419
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99500754
- GRCh38:
- Chr15:98957525
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99500734
- GRCh38:
- Chr15:98957505
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99500726
- GRCh38:
- Chr15:98957497
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99491795
- GRCh38:
- Chr15:98948566
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99482585
- GRCh38:
- Chr15:98939356
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99456354
- GRCh38:
- Chr15:98913125
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99454618
- GRCh38:
- Chr15:98911389
| IGF1R | R513W | not provided, Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Aug 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr15:99507682
- GRCh38:
- Chr15:98964453
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506977
- GRCh38:
- Chr15:98963748
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506846
- GRCh38:
- Chr15:98963617
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506815
- GRCh38:
- Chr15:98963586
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506199
- GRCh38:
- Chr15:98962970
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506198
- GRCh38:
- Chr15:98962969
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506189
- GRCh38:
- Chr15:98962960
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99506187
- GRCh38:
- Chr15:98962958
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505528
- GRCh38:
- Chr15:98962299
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505506
- GRCh38:
- Chr15:98962277
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505488
- GRCh38:
- Chr15:98962259
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505436
- GRCh38:
- Chr15:98962207
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505020
- GRCh38:
- Chr15:98961791
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99505000
- GRCh38:
- Chr15:98961771
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99504820
- GRCh38:
- Chr15:98961591
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99504091
- GRCh38:
- Chr15:98960862
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99504051
- GRCh38:
- Chr15:98960822
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503310
- GRCh38:
- Chr15:98960081
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503267
- GRCh38:
- Chr15:98960038
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503266
- GRCh38:
- Chr15:98960037
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503242
- GRCh38:
- Chr15:98960013
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503097
- GRCh38:
- Chr15:98959868
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99503085
- GRCh38:
- Chr15:98959856
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99502342
- GRCh38:
- Chr15:98959113
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr15:99502288
- GRCh38:
- Chr15:98959059
| IGF1R | | Growth delay due to insulin-like growth factor I resistance | Uncertain significance (Apr 20, 2018) | criteria provided, single submitter |