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Links from MedGen

Items: 1 to 100 of 476

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:99500404-99500406
GRCh38:
Chr15:98957175-98957177
IGF1RY1280del, Y1281delGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Nov 24, 2023)
no assertion criteria provided
2.
GRCh37:
Chr15:99440116
GRCh38:
Chr15:98896887
IGF1R, LOC126862245I362VGrowth delay due to insulin-like growth factor I resistanceUncertain significancecriteria provided, single submitter
3.
GRCh37:
Chr15:99250815
GRCh38:
Chr15:98707586
IGF1RR40HGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(May 12, 2023)
criteria provided, single submitter
4.
GRCh37:
Chr15:99472873
GRCh38:
Chr15:98929644
IGF1RV956I, V957IGrowth delay due to insulin-like growth factor I resistanceUncertain significancecriteria provided, single submitter
5.
GRCh37:
Chr15:99465390
GRCh38:
Chr15:98922161
IGF1RR739WGrowth delay due to insulin-like growth factor I resistanceUncertain significanceno assertion criteria provided
6.
GRCh37:
Chr15:99473505
GRCh38:
Chr15:98930276
IGF1RV975A, V976AGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr15:99456497
GRCh38:
Chr15:98913268
IGF1RR605HGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr15:99434646
GRCh38:
Chr15:98891417
IGF1RD245NGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Oct 24, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr15:99500591
GRCh38:
Chr15:98957362
IGF1RE1341K, E1342KGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Oct 24, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr15:99434578
GRCh38:
Chr15:98891349
IGF1RR222QGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jun 21, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr15:99467784
GRCh38:
Chr15:98924555
IGF1RY885HGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr15:99486163
GRCh38:
Chr15:98942934
IGF1RT1156A, T1157AGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 8, 2020)
criteria provided, single submitter
13.
GRCh37:
Chr15:99500654
GRCh38:
Chr15:98957425
IGF1RQ1362*, Q1363*Growth delay due to insulin-like growth factor I resistanceUncertain significance
(Jun 14, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr15:99472814
GRCh38:
Chr15:98929585
IGF1RI936T, I937TGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr15:99482588-99482589
GRCh38:
Chr15:98939359-98939360
IGF1RGrowth delay due to insulin-like growth factor I resistanceLikely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr15:99434737
GRCh38:
Chr15:98891508
IGF1RR275HGrowth delay due to insulin-like growth factor I resistance, not providedConflicting interpretations of pathogenicity
(May 31, 2022)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr15:99251887-99644855
IGF1R, PGPEP1LGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Dec 15, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr15:99454545
GRCh38:
Chr15:98911316
IGF1RC488Wnot provided, Growth delay due to insulin-like growth factor I resistanceConflicting interpretations of pathogenicity
(Jan 19, 2022)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr15:99467930
GRCh38:
Chr15:98924701
IGF1Rnot provided, Growth delay due to insulin-like growth factor I resistanceBenign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr15:99465361
GRCh38:
Chr15:98922132
IGF1Rnot provided, Growth delay due to insulin-like growth factor I resistanceLikely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr15:99465494-99465495
GRCh38:
Chr15:98922265-98922266
IGF1RE774fsGrowth delay due to insulin-like growth factor I resistancePathogenic
(Feb 14, 2020)
no assertion criteria provided
22.
GRCh37:
Chr15:99459265-99459266
GRCh38:
Chr15:98916036-98916037
IGF1RP637fsGrowth delay due to insulin-like growth factor I resistance, MicrocephalyLikely pathogenic
(Jan 11, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr15:99440125
GRCh38:
Chr15:98896896
IGF1R, LOC126862245R365*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
24.
GRCh37:
Chr15:99460059
GRCh38:
Chr15:98916830
IGF1RR719CGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(May 14, 2021)
no assertion criteria provided
25.
GRCh37:
Chr15:99491863
GRCh38:
Chr15:98948634
IGF1RL1215F, L1216FGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Sep 19, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr15:99434650
GRCh38:
Chr15:98891421
IGF1RT246MGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Apr 5, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr15:99500633
GRCh38:
Chr15:98957404
IGF1RE1355K, E1356KGrowth 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
28.
GRCh37:
Chr15:99491942
GRCh38:
Chr15:98948713
IGF1Rnot provided, Growth delay due to insulin-like growth factor I resistanceUncertain significance
(Dec 16, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr15:99250932
GRCh38:
Chr15:98707703
IGF1RT79MGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Apr 3, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr15:99459946
GRCh38:
Chr15:98916717
IGF1RE681Gnot provided, Growth delay due to insulin-like growth factor I resistanceUncertain significance
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr15:99456445
GRCh38:
Chr15:98913216
IGF1RM588VGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr15:99456415
GRCh38:
Chr15:98913186
IGF1RA578TGrowth delay due to insulin-like growth factor I resistanceLikely pathogenic
(May 31, 2019)
no assertion criteria provided
33.
GRCh37:
Chr15:99465432
GRCh38:
Chr15:98922203
IGF1RR753*Growth delay due to insulin-like growth factor I resistance, Intellectual disabilityLikely pathogenic
(Aug 3, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr15:99482496
GRCh38:
Chr15:98939267
IGF1RG1121S, G1122SGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Feb 28, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr15:99192853
GRCh38:
Chr15:98649624
IGF1R, IRAING15RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Oct 15, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr15:99486167
GRCh38:
Chr15:98942938
IGF1RR1157Q, R1158QGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Aug 21, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr15:99192881
GRCh38:
Chr15:98649652
IGF1R, IRAINS24LGrowth delay due to insulin-like growth factor I resistanceUncertain significancecriteria provided, single submitter
38.
GRCh37:
Chr15:99442802
GRCh38:
Chr15:98899573
IGF1RS400FGrowth delay due to insulin-like growth factor I resistancenot providedno assertion provided
39.
GRCh37:
Chr15:99500376
GRCh38:
Chr15:98957147
IGF1RM1269fs, M1270fsGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Oct 25, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr15:99507249
GRCh38:
Chr15:98964020
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr15:99507211
GRCh38:
Chr15:98963982
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr15:99507170
GRCh38:
Chr15:98963941
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr15:99507016
GRCh38:
Chr15:98963787
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr15:99507000
GRCh38:
Chr15:98963771
IGF1RGrowth delay due to insulin-like growth factor I resistanceLikely benign
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr15:99506379
GRCh38:
Chr15:98963150
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr15:99506310
GRCh38:
Chr15:98963081
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr15:99505815
GRCh38:
Chr15:98962586
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr15:99505763
GRCh38:
Chr15:98962534
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr15:99505673
GRCh38:
Chr15:98962444
IGF1RGrowth delay due to insulin-like growth factor I resistanceLikely benign
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr15:99505591
GRCh38:
Chr15:98962362
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr15:99505108
GRCh38:
Chr15:98961879
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr15:99505077
GRCh38:
Chr15:98961848
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr15:99505074
GRCh38:
Chr15:98961845
IGF1RGrowth delay due to insulin-like growth factor I resistanceLikely benign
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr15:99505063
GRCh38:
Chr15:98961834
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr15:99504234
GRCh38:
Chr15:98961005
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr15:99504197
GRCh38:
Chr15:98960968
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr15:99504142
GRCh38:
Chr15:98960913
IGF1RGrowth delay due to insulin-like growth factor I resistanceLikely benign
(Jan 13, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr15:99503551
GRCh38:
Chr15:98960322
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr15:99503483
GRCh38:
Chr15:98960254
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr15:99503479
GRCh38:
Chr15:98960250
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr15:99503356
GRCh38:
Chr15:98960127
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr15:99502494
GRCh38:
Chr15:98959265
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr15:99502470
GRCh38:
Chr15:98959241
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr15:99502438
GRCh38:
Chr15:98959209
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr15:99502434
GRCh38:
Chr15:98959205
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr15:99501735
GRCh38:
Chr15:98958506
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr15:99501686
GRCh38:
Chr15:98958457
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr15:99501648
GRCh38:
Chr15:98958419
IGF1RGrowth delay due to insulin-like growth factor I resistanceBenign
(Apr 27, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr15:99500754
GRCh38:
Chr15:98957525
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr15:99500734
GRCh38:
Chr15:98957505
IGF1RGrowth delay due to insulin-like growth factor I resistanceLikely benign
(Jan 13, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr15:99500726
GRCh38:
Chr15:98957497
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr15:99491795
GRCh38:
Chr15:98948566
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr15:99482585
GRCh38:
Chr15:98939356
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr15:99456354
GRCh38:
Chr15:98913125
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr15:99454618
GRCh38:
Chr15:98911389
IGF1RR513Wnot provided, Growth delay due to insulin-like growth factor I resistanceUncertain significance
(Aug 17, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr15:99507682
GRCh38:
Chr15:98964453
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr15:99506977
GRCh38:
Chr15:98963748
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr15:99506846
GRCh38:
Chr15:98963617
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr15:99506815
GRCh38:
Chr15:98963586
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr15:99506199
GRCh38:
Chr15:98962970
IGF1RGrowth delay due to insulin-like growth factor I resistanceBenign
(Apr 27, 2017)
criteria provided, single submitter
81.
GRCh37:
Chr15:99506198
GRCh38:
Chr15:98962969
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr15:99506189
GRCh38:
Chr15:98962960
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr15:99506187
GRCh38:
Chr15:98962958
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr15:99505528
GRCh38:
Chr15:98962299
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr15:99505506
GRCh38:
Chr15:98962277
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr15:99505488
GRCh38:
Chr15:98962259
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Feb 2, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr15:99505436
GRCh38:
Chr15:98962207
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr15:99505020
GRCh38:
Chr15:98961791
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr15:99505000
GRCh38:
Chr15:98961771
IGF1RGrowth delay due to insulin-like growth factor I resistanceBenign
(Jan 13, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr15:99504820
GRCh38:
Chr15:98961591
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr15:99504091
GRCh38:
Chr15:98960862
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr15:99504051
GRCh38:
Chr15:98960822
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr15:99503310
GRCh38:
Chr15:98960081
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr15:99503267
GRCh38:
Chr15:98960038
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr15:99503266
GRCh38:
Chr15:98960037
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
96.
GRCh37:
Chr15:99503242
GRCh38:
Chr15:98960013
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr15:99503097
GRCh38:
Chr15:98959868
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr15:99503085
GRCh38:
Chr15:98959856
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr15:99502342
GRCh38:
Chr15:98959113
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr15:99502288
GRCh38:
Chr15:98959059
IGF1RGrowth delay due to insulin-like growth factor I resistanceUncertain significance
(Apr 20, 2018)
criteria provided, single submitter
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