IGF1R — 1320 ClinVar variants

All ClinVar germline IGF1R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 473 flagged for review →

36 Pathogenic · 5 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 55 Conflicting · 63 Benign · 26 Benign/Likely benign · 348 Likely benign · 745 Uncertain significance

Full IGF1R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 473

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 19

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

IGF1R p.Arg1177His Conflicting Single submitter
Inborn genetic diseases
IGF1R p.Arg210His Conflicting Single submitter
IGF1R p.Arg275His Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg40His Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg511Gln Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg595His Conflicting Single submitter
Inborn genetic diseases
IGF1R p.Arg659Gln Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asn202Ser Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asn747Ser Conflicting Single submitter
IGF1R p.Cys488Trp Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Glu83Lys Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Gly1199Arg Conflicting Single submitter
Inborn genetic diseases
IGF1R p.Gly1328Ser Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Gly639Ser Conflicting Single submitter
IGF1R-related disorder
IGF1R p.Met446Val Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Pro190Ser Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ser1193Leu Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ser501Leu Conflicting Single submitter
Monogenic short statue
IGF1R p.Ser965Asn Conflicting Single submitter
growth delay due to insulin-like growth factor I resistance

Predictors lean, ClinVar uncertain 357

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 357

IGF1R p.Ala1031Thr Uncertain significance Multiple submitters
IGF1R p.Ala1039Ser Uncertain significance Multiple submitters
IGF1R p.Ala1309Thr Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ala241Thr Uncertain significance Multiple submitters
IGF1R p.Ala241Val Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ala263Val Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ala530Val Uncertain significance Multiple submitters
IGF1R p.Ala578Thr Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ala939Thr Uncertain significance Multiple submitters
IGF1R p.Ala943Thr Uncertain significance Multiple submitters
IGF1R p.Arg1139Trp Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg1158Gln Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg1223His Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Arg1275Gln Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Arg210Cys Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg279His Uncertain significance Multiple submitters
IGF1R p.Arg461Cys Uncertain significance Multiple submitters
IGF1R p.Arg513Trp Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg753Gln Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg794Trp Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Arg996Gln Uncertain significance Multiple submitters
IGF1R p.Asn1327Asp Uncertain significance Multiple submitters
IGF1R p.Asn267Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Asn638Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Asn932Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Asp1318Asn Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Cys1237Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Gln872Arg Uncertain significance Multiple submitters
IGF1R p.Glu1284Asp Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Glu681Gly Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Glu878Lys Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Gly1122Ser Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Gly1330Ser Uncertain significance Multiple submitters
IGF1R p.Gly565Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Gly655Ser Uncertain significance Multiple submitters
IGF1R-related disorder
IGF1R p.Gly693Asp Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Gly693Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Gly860Glu Uncertain significance Multiple submitters
IGF1R p.His494Tyr Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ile1032Val Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ile867Val Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Leu19Phe Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Lys2Gln Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Lys560Arg Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Lys961Arg Uncertain significance Multiple submitters
IGF1R p.Met1245Leu Uncertain significance Multiple submitters
IGF1R p.Met588Val Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Phe958Cys Uncertain significance Multiple submitters
IGF1R p.Pro1290Leu Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Pro27Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Pro652Thr Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Pro842Ser Uncertain significance Multiple submitters
IGF1R p.Ser1311Leu Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ser1312Phe Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ser20Phe Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ser24Leu Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ser623Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ser664Phe Uncertain significance Multiple submitters
Monogenic short statue
IGF1R p.Thr1366Pro Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Thr246Ala Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Thr246Met Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr748Ala Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Thr758Met Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr788Ala Uncertain significance Multiple submitters
IGF1R p.Tyr1161Cys Uncertain significance Multiple submitters
IGF1R p.Tyr763Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Val1103Ile Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Val1176Met Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Val1277Ile Uncertain significance Multiple submitters
IGF1R p.Val331Ile Uncertain significance Multiple submitters
IGF1R p.Val554Met Uncertain significance Multiple submitters
IGF1R p.Val617Ile Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ala1105Thr Uncertain significance Single submitter
IGF1R p.Ala1105Val Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ala1338Pro Uncertain significance Single submitter
IGF1R p.Ala1338Thr Uncertain significance Single submitter
IGF1R p.Ala1358Pro Uncertain significance Single submitter
IGF1R p.Ala140Asp Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ala283Thr Uncertain significance Single submitter
IGF1R p.Ala288Thr Uncertain significance Single submitter
IGF1R p.Ala701Thr Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ala711Thr Uncertain significance Single submitter
IGF1R p.Ala716Thr Uncertain significance Single submitter
IGF1R p.Ala759Gly Uncertain significance Single submitter
IGF1R p.Ala760Thr Uncertain significance Single submitter
Monogenic short statue
IGF1R p.Ala891Val Uncertain significance Single submitter
IGF1R p.Arg1042His Uncertain significance Single submitter
IGF1R p.Arg1044Ser Uncertain significance Single submitter
IGF1R p.Arg1084Gln Uncertain significance Single submitter
IGF1R p.Arg1092Gln Uncertain significance Single submitter
IGF1R p.Arg1092Trp Uncertain significance Single submitter
IGF1R p.Arg1139Gln Uncertain significance Single submitter
IGF1R p.Arg1167Gln Uncertain significance Single submitter
IGF1R p.Arg1177Cys Uncertain significance Single submitter
neurodevelopmental disorder
IGF1R p.Arg1256Trp Uncertain significance Single submitter
IGF1R p.Arg1319Thr Uncertain significance Single submitter
IGF1R p.Arg1337His Uncertain significance Single submitter
IGF1R p.Arg1357Gln Uncertain significance Single submitter
IGF1R p.Arg138Trp Uncertain significance Single submitter
IGF1R p.Arg222Gln Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg270Thr Uncertain significance Single submitter
IGF1R p.Arg275Cys Uncertain significance Single submitter
IGF1R p.Arg366Gln Uncertain significance Single submitter
IGF1R p.Arg406His Uncertain significance Single submitter
IGF1R p.Arg461His Uncertain significance Single submitter
IGF1R p.Arg647His Uncertain significance Single submitter
IGF1R p.Arg74His Uncertain significance Single submitter
IGF1R p.Arg755Ser Uncertain significance Single submitter
IGF1R p.Arg800Cys Uncertain significance Single submitter
IGF1R p.Arg800His Uncertain significance Single submitter
Monogenic short statue
IGF1R p.Arg886Trp Uncertain significance Single submitter
IGF1R p.Arg996Leu Uncertain significance Single submitter
IGF1R p.Asn1058Ser Uncertain significance Single submitter
IGF1R p.Asn1101Lys Uncertain significance Single submitter
IGF1R p.Asn1101Thr Uncertain significance Single submitter
IGF1R p.Asn1127Ser Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asn1140Lys Uncertain significance Single submitter
Monogenic short stature
IGF1R p.Asn114Ser Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asn1218Asp Uncertain significance Single submitter
IGF1R p.Asn1236Ser Uncertain significance Single submitter
IGF1R p.Asn124His Uncertain significance Single submitter
IGF1R p.Asn135Ser Uncertain significance Single submitter
IGF1R p.Asn146Asp Uncertain significance Single submitter
IGF1R p.Asn172Ser Uncertain significance Single submitter
IGF1R p.Asn199Thr Uncertain significance Single submitter
IGF1R p.Asn202Thr Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Asn228Ser Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asn244Ser Uncertain significance Single submitter
IGF1R p.Asn368Asp Uncertain significance Single submitter
IGF1R p.Asn404Lys Uncertain significance Single submitter
IGF1R p.Asn451Tyr Uncertain significance Single submitter
IGF1R p.Asn534His Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Asn792Asp Uncertain significance Single submitter
IGF1R p.Asn894Ser Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Asp1086Asn Uncertain significance Single submitter
IGF1R p.Asp1194His Uncertain significance Single submitter
IGF1R p.Asp1294Asn Uncertain significance Single submitter
IGF1R p.Asp1318Tyr Uncertain significance Single submitter
IGF1R p.Asp1341Asn Uncertain significance Single submitter
IGF1R p.Asp148Asn Uncertain significance Single submitter
IGF1R p.Asp243Gly Uncertain significance Single submitter
IGF1R p.Asp245Asn Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asp435Asn Uncertain significance Single submitter
IGF1R p.Asp491Gly Uncertain significance Single submitter
IGF1R p.Asp675Asn Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asp679Asn Uncertain significance Single submitter
IGF1R p.Asp741Asn Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Asp767Ala Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Asp783Tyr Uncertain significance Single submitter
IGF1R p.Asp832Asn Uncertain significance Single submitter

Predictors split 97

The independent predictors disagree with each other — read with care.

IGF1R p.Arg107His Uncertain significance Multiple submitters
IGF1R p.Arg1246His Uncertain significance Multiple submitters
IGF1R p.Arg391Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Arg650Trp Uncertain significance Multiple submitters
IGF1R p.Arg71His Uncertain significance Multiple submitters
IGF1R p.Arg739Gln Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Asn284Tyr Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Glu56Lys Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Gly1229Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Gly1351Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Gly15Arg Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Leu25Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Met1255Val Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr79Met Uncertain significance Multiple submitters
growth delay due to insulin-like growth factor I resistance
IGF1R p.Val388Met Benign Multiple submitters
IGF1R p.Val525Ile Uncertain significance Multiple submitters
Inborn genetic diseases
IGF1R p.Ala1039Thr Uncertain significance Single submitter
IGF1R p.Ala1206Thr Uncertain significance Single submitter
IGF1R p.Ala140Val Uncertain significance Single submitter
IGF1R p.Ala223Glu Uncertain significance Single submitter
IGF1R p.Ala817Thr Uncertain significance Single submitter
IGF1R p.Ala907Ser Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg1003Trp Uncertain significance Single submitter
IGF1R p.Arg1246Cys Uncertain significance Single submitter
IGF1R p.Arg1275Trp Uncertain significance Single submitter
IGF1R p.Arg1353Cys Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Arg204His Uncertain significance Single submitter
IGF1R p.Arg437Cys Uncertain significance Single submitter
IGF1R p.Arg480Thr Uncertain significance Single submitter
IGF1R p.Arg605His Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asn1355Lys Uncertain significance Single submitter
IGF1R p.Asn267Thr Uncertain significance Single submitter
IGF1R p.Asn640Ile Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Asp1239Val Uncertain significance Single submitter
IGF1R p.Asp802Asn Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Glu1037Lys Uncertain significance Single submitter
IGF1R p.Glu1145Lys Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Glu458Gln Uncertain significance Single submitter
IGF1R p.Glu537Lys Uncertain significance Single submitter
IGF1R p.Glu56Gln Uncertain significance Single submitter
IGF1R p.Glu600Ala Uncertain significance Single submitter
IGF1R p.Glu68Lys Uncertain significance Single submitter
IGF1R p.Glu708Lys Uncertain significance Single submitter
IGF1R p.Glu712Lys Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Gly1352Cys Uncertain significance Single submitter
IGF1R p.Gly1352Val Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Gly258Ser Conflicting Single submitter
IGF1R p.Gly273Ser Uncertain significance Single submitter
IGF1R p.Gly273Val Uncertain significance Single submitter
IGF1R p.Gly34Arg Uncertain significance Single submitter
IGF1R p.Gly545Ser Uncertain significance Single submitter
IGF1R p.His299Tyr Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.His392Arg Uncertain significance Single submitter
IGF1R p.Ile1262Met Uncertain significance Single submitter
IGF1R p.Ile1263Ser Uncertain significance Single submitter
IGF1R p.Ile362Val Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Ile364Val Uncertain significance Single submitter
IGF1R p.Leu1361Arg Uncertain significance Single submitter
IGF1R p.Leu16His Uncertain significance Single submitter
IGF1R p.Leu380Phe Uncertain significance Single submitter
IGF1R p.Lys1185Met Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Met1112Val Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Met1226Leu Uncertain significance Single submitter
IGF1R p.Met122Val Uncertain significance Single submitter
IGF1R p.Met1349Val Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Met319Ile Uncertain significance Single submitter
IGF1R p.Met462Ile Uncertain significance Single submitter
IGF1R p.Met462Val Uncertain significance Single submitter
IGF1R p.Met588Ile Uncertain significance Single submitter
IGF1R p.Phe1147Cys Uncertain significance Single submitter
IGF1R p.Pro1253His Uncertain significance Single submitter
IGF1R p.Pro265Leu Uncertain significance Single submitter
IGF1R p.Pro557Ser Uncertain significance Single submitter
IGF1R p.Pro919His Uncertain significance Single submitter
IGF1R p.Pro919Thr Uncertain significance Single submitter
IGF1R p.Ser1308Trp Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Ser309Leu Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr1083Ile Uncertain significance Single submitter
IGF1R p.Thr1157Ala Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr1191Ile Uncertain significance Single submitter
IGF1R p.Thr268Asn Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr28Met Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr500Met Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Thr575Ala Uncertain significance Single submitter
IGF1R p.Thr79Ala Uncertain significance Single submitter
IGF1R p.Tyr1346Cys Uncertain significance Single submitter
IGF1R p.Tyr526His Uncertain significance Single submitter
IGF1R p.Tyr70Asp Uncertain significance Single submitter
IGF1R p.Tyr888Cys Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Tyr973Cys Uncertain significance Single submitter
Inborn genetic diseases
IGF1R p.Val1035Met Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Val1132Ile Uncertain significance Single submitter
IGF1R p.Val880Leu Uncertain significance Single submitter
IGF1R p.Val924Ala Uncertain significance Single submitter
IGF1R p.Val971Glu Uncertain significance Single submitter
IGF1R p.Val976Ala Uncertain significance Single submitter
growth delay due to insulin-like growth factor I resistance
IGF1R p.Arg719Cys Uncertain significance No assertion criteria
growth delay due to insulin-like growth factor I resistance

All IGF1R variants

Pathogenic 36

c.641-2A>G Multiple submitters
p.Ala140fs Multiple submitters
p.Cys307Ter Multiple submitters Inborn genetic diseases
p.Met1123fs Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Met1179fs Multiple submitters growth delay due to insulin-like growth factor I resistance
c.1102+2T>C Single submitter Monogenic short statue
c.1247+1dup Single submitter growth delay due to insulin-like growth factor I resistance
c.1590-1G>C Single submitter
p.Ala995fs Single submitter
p.Arg1064Ter Single submitter
p.Arg877Ter Single submitter growth delay due to insulin-like growth factor I resistance
p.Asn969fs Single submitter Inborn genetic diseases
p.Cys303Ter Single submitter
p.Cys699Ter Single submitter growth delay due to insulin-like growth factor I resistance
p.Gln1071Ter Single submitter Inborn genetic diseases
p.Gln429Ter Single submitter Monogenic short statue
p.Glu302Ter Single submitter growth delay due to insulin-like growth factor I resistance
p.Glu50Ter Single submitter
p.Glu68fs Single submitter growth delay due to insulin-like growth factor I resistance
p.Glu829fs Single submitter growth delay due to insulin-like growth factor I resistance
p.Gly1155Ala Single submitter growth delay due to insulin-like growth factor I resistance
p.Gly860Ter Single submitter
p.Ile678fs Single submitter
p.Leu16fs Single submitter
p.Lys892fs Single submitter
p.Met446fs Single submitter growth delay due to insulin-like growth factor I resistance
p.Phe1131Val Single submitter
p.Phe777_Phe778insTer Single submitter growth delay due to insulin-like growth factor I resistance
p.Trp574Ter Single submitter
p.Trp631Ter Single submitter
p.Tyr644Cys Single submitter Inborn genetic diseases
p.Tyr869Ter Single submitter growth delay due to insulin-like growth factor I resistance
p.Val344fs Single submitter Inborn genetic diseases
p.Ala711_Glu714del No assertion criteria growth delay due to insulin-like growth factor I resistance
p.Glu774fs No assertion criteria growth delay due to insulin-like growth factor I resistance
p.Trp274Ter No assertion criteria growth delay due to insulin-like growth factor I resistance

Pathogenic/Likely pathogenic 5

c.3457+1G>A Multiple submitters
p.Arg365Ter Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg753Ter Multiple submitters intellectual disability
p.Gly1152Arg Multiple submitters IGF1R-related disorder
p.Val1013fs Multiple submitters IGF1R-related disorder

Likely pathogenic 42

c.3187-2A>T Multiple submitters
c.1247+1G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.1829-2A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.2622+1G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.2957-1G>A Single submitter IGF1R-related disorder
c.3187-2A>G Single submitter
c.3457+1dup Single submitter growth delay due to insulin-like growth factor I resistance
c.3588-2A>G Single submitter IGF1R-related disorder
p.Ala116Thr Single submitter
p.Arg1029fs Single submitter
p.Arg40Cys Single submitter growth delay due to insulin-like growth factor I resistance
p.Arg737fs Single submitter growth delay due to insulin-like growth factor I resistance
p.Arg895_Asn897del Single submitter
p.Asp1153Gly Single submitter
p.Cys248fs Single submitter IGF1R-related disorder
p.Cys332Tyr Single submitter growth delay due to insulin-like growth factor I resistance
p.Cys692Ter Single submitter IGF1R-related disorder
p.Glu1046fs Single submitter neurodevelopmental disorder
p.Glu121Lys Single submitter growth delay due to insulin-like growth factor I resistance
p.Glu1227Ter Single submitter
p.Glu234fs Single submitter growth delay due to insulin-like growth factor I resistance
p.Glu884Ter Single submitter IGF1R-related disorder
p.Gly108fs Single submitter
p.Gly1117Ter Single submitter growth delay due to insulin-like growth factor I resistance
p.Gly1122Cys Single submitter
p.Ile1205Asn Single submitter growth delay due to insulin-like growth factor I resistance
p.Lys961fs Single submitter IGF1R-related disorder
p.Met1054Ile Single submitter growth delay due to insulin-like growth factor I resistance
p.Met1Lys Single submitter growth delay due to insulin-like growth factor I resistance
p.Pro1212Thr Single submitter growth delay due to insulin-like growth factor I resistance
p.Pro637fs Single submitter microcephaly
p.Ser1180Tyr Single submitter growth delay due to insulin-like growth factor I resistance
p.Ser1193Trp Single submitter
p.Ser621Leu Single submitter
p.Trp1249Ter Single submitter
p.Trp26Ter Single submitter neurodevelopmental disorder
p.Tyr1014Ter Single submitter IGF1R-related disorder
p.Tyr113Cys Single submitter growth delay due to insulin-like growth factor I resistance
p.Tyr460Ter Single submitter IGF1R-related disorder
p.Tyr58Ter Single submitter IGF1R-related disorder
p.Arg107fs No assertion criteria growth delay due to insulin-like growth factor I resistance
p.Gly1155Asp No assertion criteria NK-cell enteropathy

Conflicting classifications of pathogenicity 55

c.1247+3A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.1462+15C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.1828+11C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.1997-6G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.1997-8C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.3187-5C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.3722+4C>T Single submitter
c.3722+5G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.641-14C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1885G>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*63AG[3] Single submitter
p.Ala1325= Single submitter growth delay due to insulin-like growth factor I resistance
p.Ala707= Single submitter
p.Arg1177His Single submitter Inborn genetic diseases ⚠
p.Arg1337Cys Single submitter growth delay due to insulin-like growth factor I resistance
p.Arg210His Single submitter ⚠
p.Arg275His Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Arg40His Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Arg511Gln Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Arg595His Single submitter Inborn genetic diseases ⚠
p.Arg659Gln Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Asn1036= Single submitter growth delay due to insulin-like growth factor I resistance
p.Asn1218= Single submitter growth delay due to insulin-like growth factor I resistance
p.Asn202Ser Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Asn747Ser Single submitter ⚠
p.Asp1306= Single submitter
p.Cys488Trp Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Gln710_Lys713del Single submitter neurodevelopmental disorder
p.Glu83Lys Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Gly1199Arg Single submitter Inborn genetic diseases ⚠
p.Gly1328Ser Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Gly179= Single submitter growth delay due to insulin-like growth factor I resistance
p.Gly258Ser Single submitter ⚠
p.Gly639Ser Single submitter IGF1R-related disorder ⚠
p.Ile1151= Single submitter Inborn genetic diseases
p.Leu63= Single submitter
p.Leu910= Single submitter growth delay due to insulin-like growth factor I resistance
p.Lys560= Single submitter
p.Met446Val Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Phe1198= Single submitter growth delay due to insulin-like growth factor I resistance
p.Phe1224= Single submitter growth delay due to insulin-like growth factor I resistance
p.Phe495= Single submitter
p.Phe820= Single submitter growth delay due to insulin-like growth factor I resistance
p.Pro190Ser Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Pro557= Single submitter growth delay due to insulin-like growth factor I resistance
p.Pro564= Single submitter
p.Pro652= Single submitter
p.Ser1193Leu Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Ser1302= Single submitter growth delay due to insulin-like growth factor I resistance
p.Ser398= Single submitter growth delay due to insulin-like growth factor I resistance
p.Ser501= Single submitter growth delay due to insulin-like growth factor I resistance
p.Ser501Leu Single submitter Monogenic short statue ⚠
p.Ser965Asn Single submitter growth delay due to insulin-like growth factor I resistance ⚠
p.Tyr387= Single submitter growth delay due to insulin-like growth factor I resistance
p.Tyr956= Single submitter growth delay due to insulin-like growth factor I resistance

Benign 63

c.1590-20T>C Multiple submitters
c.640+20C>T Multiple submitters
c.94+14C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.-51T>C Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*1087A>G Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*1856C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*2212G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*3074G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*3129G>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*3165T>C Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*3333G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*3458G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*3766C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*4000C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*4172C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*4391C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*4458C>G Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*4645C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*4752G>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*4814C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*5151T>C Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*5157A>G Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*5309C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*5436C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*6069G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*6271C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*874C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Ala288= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg134= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Asn638= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Glu1043= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Gly295= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Gly301= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Tyr1346= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Val388Met Multiple submitters ⚠
c.1590-9G>A Single submitter
c.2202-18T>C Single submitter
c.3458-20C>T Single submitter
c.*1152G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1228G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1425A>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*1724C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4329G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4512G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4513A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*4815G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5146G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5227C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5458A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5528G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5570C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6092G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*6166G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*6186G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*6493C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6568A>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*977C>T Single submitter growth delay due to insulin-like growth factor I resistance
p.Asp561= Single submitter
p.Gly1085= Single submitter
p.Pro265= Single submitter
p.Thr196= Single submitter
p.Thr758= Single submitter
p.Val164= Single submitter

Benign/Likely benign 26

c.1103-17A>G Multiple submitters
c.1463-5C>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.2782+17G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.2885+15A>G Multiple submitters growth delay due to insulin-like growth factor I resistance
c.3298-9C>G Multiple submitters growth delay due to insulin-like growth factor I resistance
c.3723-4G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*15A>G Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg437His Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg650= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg650Gln Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Asn1355= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Asn591= Multiple submitters
p.Asn857Ser Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Asn900= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Asp1159= Multiple submitters
p.Asp1194= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Cys282= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Phe75= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Pro1360= Multiple submitters
p.Ser5= Multiple submitters
p.Thr1157= Multiple submitters
p.Thr345= Multiple submitters
p.Thr766= Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Thr79= Multiple submitters
p.Val492Ile Multiple submitters
p.Val562= Multiple submitters growth delay due to insulin-like growth factor I resistance

Likely benign 348

Showing the top 300 by review status; the full set is in the sitemap.

c.1248-17G>T Multiple submitters
c.1997-7C>T Multiple submitters
c.2202-16T>G Multiple submitters growth delay due to insulin-like growth factor I resistance
c.2956+10C>T Multiple submitters
c.2956+11G>A Multiple submitters
c.3297+11A>G Multiple submitters
c.3297+19C>T Multiple submitters
c.3723-17G>A Multiple submitters
c.94+15G>A Multiple submitters
c.954-14T>G Multiple submitters
c.*134C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*5909G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*6308T>C Multiple submitters growth delay due to insulin-like growth factor I resistance
c.*910C>T Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Ala1116= Multiple submitters
p.Ala1138= Multiple submitters
p.Ala1144= Multiple submitters
p.Ala163= Multiple submitters
p.Asn1350= Multiple submitters
p.Asn314= Multiple submitters
p.Asn41= Multiple submitters
p.Asp491= Multiple submitters
p.Cys33= Multiple submitters
p.Cys544= Multiple submitters
p.Glu1291= Multiple submitters
p.Glu484= Multiple submitters
p.Gly1169= Multiple submitters
p.Gly1228= Multiple submitters
p.Gly6Arg Multiple submitters
p.His299= Multiple submitters
p.Ile1119= Multiple submitters
p.Ile938= Multiple submitters
p.Leu25= Multiple submitters
p.Leu402= Multiple submitters
p.Leu405= Multiple submitters
p.Lys572= Multiple submitters
p.Phe1340= Multiple submitters
p.Pro1253= Multiple submitters
p.Pro1288= Multiple submitters
p.Pro1290= Multiple submitters
p.Pro1317= Multiple submitters
p.Pro233= Multiple submitters
p.Pro853= Multiple submitters
p.Pro853Leu Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Ser1282= Multiple submitters
p.Ser1311= Multiple submitters
p.Ser287= Multiple submitters
p.Ser291= Multiple submitters
p.Ser293= Multiple submitters
p.Ser457= Multiple submitters
p.Ser965= Multiple submitters
p.Thr218= Multiple submitters
p.Thr225= Multiple submitters
p.Thr524= Multiple submitters
p.Thr797= Multiple submitters
p.Tyr84= Multiple submitters
p.Tyr923= Multiple submitters
p.Tyr987= Multiple submitters
c.1102+14C>A Single submitter
c.1102+16C>G Single submitter
c.1103-16T>C Single submitter
c.1247+16T>C Single submitter
c.1248-11T>C Single submitter
c.1248-6T>C Single submitter
c.1248-8G>T Single submitter
c.1462+18A>G Single submitter
c.1463-16G>A Single submitter
c.1463-18A>T Single submitter
c.1463-20G>A Single submitter
c.1589+10del Single submitter
c.1589+17G>A Single submitter
c.1590-13_1590-10del Single submitter
c.1590-19G>A Single submitter
c.1590-20_1590-10del Single submitter
c.1829-14G>T Single submitter
c.1829-18C>G Single submitter
c.1829-4C>T Single submitter
c.1996+10C>T Single submitter
c.1996+16C>T Single submitter
c.1996+17G>A Single submitter
c.1996+8T>C Single submitter
c.1997-10T>A Single submitter
c.1997-14T>A Single submitter
c.1997-8C>G Single submitter
c.2201+12A>G Single submitter
c.2201+5C>G Single submitter
c.2202-13C>A Single submitter
c.2202-20C>A Single submitter
c.2202-8_2202-6del Single submitter
c.2485+17C>G Single submitter
c.2485+18T>C Single submitter
c.2485+8A>G Single submitter
c.2622+12G>A Single submitter
c.2622+12G>C Single submitter
c.2622+8T>G Single submitter
c.2622+9G>T Single submitter
c.2782+15G>A Single submitter
c.2885+17G>A Single submitter
c.2956+17C>T Single submitter
c.2957-15C>T Single submitter
c.3186+12T>C Single submitter
c.3187-11A>T Single submitter
c.3297+20G>A Single submitter
c.3297+20G>T Single submitter
c.3457+10T>G Single submitter
c.3457+13C>T Single submitter
c.3458-18C>T Single submitter
c.3458-19G>A Single submitter
c.3587+14T>C Single submitter
c.3588-15T>C Single submitter
c.3588-18G>T Single submitter
c.3588-19A>G Single submitter
c.3722+17C>T Single submitter
c.3722+19C>T Single submitter
c.3723-18C>T Single submitter
c.640+12G>T Single submitter
c.641-12C>G Single submitter
c.641-14CT[3] Single submitter
c.641-19C>G Single submitter
c.94+10_94+11del Single submitter
c.94+17_94+23del Single submitter
c.94+7A>G Single submitter
c.95-11TC[3] Single submitter
c.95-18C>T Single submitter
c.953+10G>A Single submitter
c.953+14A>T Single submitter
c.953+16A>C Single submitter
c.953+18G>A Single submitter
c.953+8G>A Single submitter
c.953+9C>T Single submitter
c.954-12del Single submitter
c.-41_-33del Single submitter growth delay due to insulin-like growth factor I resistance
c.*1543A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*1668C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1765T>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*2718C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*2790C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3072G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3192C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3250G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3440G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3470_*3471dup Single submitter
c.*3471C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*352G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3653C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*43G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4403C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4439G>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*4466G>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*4521G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4529T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*458G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4599C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4641C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4762G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5002T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*5166C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5326C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5739T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*626T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*62del Single submitter
c.*6329G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*63A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*6580C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6770A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6793dup Single submitter
c.*687C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6942C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6977_*6979del Single submitter
p.Ala1038= Single submitter
p.Ala1051= Single submitter
p.Ala1124= Single submitter
p.Ala1209= Single submitter
p.Ala241= Single submitter
p.Ala257= Single submitter
p.Ala257Val Single submitter
p.Ala395= Single submitter
p.Ala443= Single submitter
p.Ala578= Single submitter
p.Ala597= Single submitter
p.Ala67= Single submitter
p.Ala674= Single submitter
p.Ala711= Single submitter
p.Ala746= Single submitter
p.Ala831= Single submitter
p.Ala903= Single submitter
p.Arg107= Single submitter
p.Arg1337= Single submitter
p.Arg511= Single submitter
p.Arg71= Single submitter
p.Arg737= Single submitter
p.Arg753= Single submitter
p.Arg966= Single submitter
p.Asn1127= Single submitter
p.Asn1299= Single submitter
p.Asn1327= Single submitter
p.Asn202= Single submitter
p.Asn228= Single submitter
p.Asn244= Single submitter
p.Asn404= Single submitter
p.Asn427= Single submitter
p.Asn482= Single submitter
p.Asn622= Single submitter
p.Asn784= Single submitter
p.Asp1121= Single submitter
p.Asp1318= Single submitter
p.Asp1341= Single submitter
p.Asp243= Single submitter
p.Asp280= Single submitter
p.Asp300= Single submitter
p.Asp553= Single submitter
p.Asp654= Single submitter
p.Cys150= Single submitter
p.Cys239= Single submitter
p.Cys52= Single submitter
p.Cys663= Single submitter
p.Cys815= Single submitter
p.Gln305= Single submitter
p.Gln430= Single submitter
p.Gln576= Single submitter
p.Gln744= Single submitter
p.Glu1219= Single submitter
p.Glu1283Lys Single submitter
p.Glu1289= Single submitter
p.Glu1356= Single submitter
p.Glu229= Single submitter
p.Glu375= Single submitter
p.Glu841= Single submitter
p.Gly1008= Single submitter
p.Gly1011= Single submitter
p.Gly171= Single submitter
p.Gly273= Single submitter
p.Gly467= Single submitter
p.Gly565= Single submitter
p.Gly655= Single submitter
p.Gly890= Single submitter
p.Gly899= Single submitter
p.His1348= Single submitter
p.His804= Single submitter
p.His808= Single submitter
p.Ile1045= Single submitter
p.Ile1205= Single submitter
p.Ile128= Single submitter
p.Ile141= Single submitter
p.Ile312= Single submitter
p.Ile322= Single submitter
p.Ile37= Single submitter
p.Ile381= Single submitter
p.Ile55= Single submitter
p.Ile801= Single submitter
p.Ile934= Single submitter
p.Ile947= Single submitter
p.Leu1081= Single submitter
p.Leu1109= Single submitter
p.Leu117= Single submitter
p.Leu1202= Single submitter
p.Leu1293= Single submitter
p.Leu16= Single submitter
p.Leu181= Single submitter
p.Leu361= Single submitter
p.Leu409= Single submitter
p.Leu414= Single submitter
p.Leu423= Single submitter
p.Leu493= Single submitter
p.Leu602= Single submitter
p.Leu641= Single submitter
p.Leu798= Single submitter
p.Leu93= Single submitter
p.Leu936= Single submitter
p.Leu945= Single submitter
p.Leu951= Single submitter
p.Leu96= Single submitter
p.Lys110= Single submitter
p.Lys445= Single submitter
p.Lys533Glu Single submitter
p.Phe100= Single submitter
p.Phe120= Single submitter
p.Phe1259= Single submitter
p.Phe921= Single submitter
p.Pro101= Single submitter
p.Pro1234= Single submitter
p.Pro1238= Single submitter
p.Pro1329= Single submitter
p.Pro1345= Single submitter
p.Pro183= Single submitter
p.Pro190= Single submitter
p.Pro266= Single submitter
p.Pro634= Single submitter
p.Pro768= Single submitter
p.Pro827= Single submitter
p.Pro835= Single submitter
p.Pro858= Single submitter
p.Pro941= Single submitter
p.Pro978= Single submitter
p.Ser1108= Single submitter
p.Ser1193= Single submitter
p.Ser1264= Single submitter
p.Ser1278= Single submitter
p.Ser1308= Single submitter
p.Ser1312= Single submitter

Uncertain significance 745

Showing the top 300 by review status; the full set is in the sitemap.

c.1102+6T>C Multiple submitters
c.94+3_94+6del Multiple submitters
c.*3338G>A Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Ala1031Thr Multiple submitters ⚠
p.Ala1039Ser Multiple submitters ⚠
p.Ala1309Thr Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Ala241Thr Multiple submitters ⚠
p.Ala241Val Multiple submitters Inborn genetic diseases ⚠
p.Ala263Val Multiple submitters Inborn genetic diseases ⚠
p.Ala530Val Multiple submitters ⚠
p.Ala578Thr Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Ala939Thr Multiple submitters ⚠
p.Ala943Thr Multiple submitters ⚠
p.Arg107His Multiple submitters ⚠
p.Arg1139Trp Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Arg1158Gln Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Arg1223His Multiple submitters Inborn genetic diseases ⚠
p.Arg1246His Multiple submitters ⚠
p.Arg1275Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1343Ile Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg1353His Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg1357Trp Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Arg210Cys Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Arg279His Multiple submitters ⚠
p.Arg391Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg461Cys Multiple submitters ⚠
p.Arg511Trp Multiple submitters
p.Arg513Trp Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Arg650Trp Multiple submitters ⚠
p.Arg71His Multiple submitters ⚠
p.Arg739Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg753Gln Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Arg794Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg996Gln Multiple submitters ⚠
p.Asn1327Asp Multiple submitters ⚠
p.Asn267Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn284Tyr Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Asn638Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn932Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp1318Asn Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Cys1237Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln872Arg Multiple submitters ⚠
p.Glu1284Asp Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Glu1342Lys Multiple submitters growth delay due to insulin-like growth factor I resistance
p.Glu1356Lys Multiple submitters IGF1R-related disorder
p.Glu56Lys Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Glu681Gly Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Glu878Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly1122Ser Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Gly1229Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly1330Ser Multiple submitters ⚠
p.Gly1351Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly15Arg Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Gly565Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly655Ser Multiple submitters IGF1R-related disorder ⚠
p.Gly693Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly693Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly860Glu Multiple submitters ⚠
p.His494Tyr Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Ile1032Val Multiple submitters Inborn genetic diseases ⚠
p.Ile867Val Multiple submitters Inborn genetic diseases ⚠
p.Leu19Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu25Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys2Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys560Arg Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Lys961Arg Multiple submitters ⚠
p.Met1245Leu Multiple submitters ⚠
p.Met1255Val Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Met588Val Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Phe958Cys Multiple submitters ⚠
p.Pro1290Leu Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Pro27Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro652Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro842Ser Multiple submitters ⚠
p.Pro898Leu Multiple submitters
p.Ser1311Leu Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Ser1312Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser20Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser24Leu Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Ser623Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser664Phe Multiple submitters Monogenic short statue ⚠
p.Thr1366Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr246Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr246Met Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Thr748Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr758Met Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Thr788Ala Multiple submitters ⚠
p.Thr79Met Multiple submitters growth delay due to insulin-like growth factor I resistance ⚠
p.Tyr1161Cys Multiple submitters ⚠
p.Tyr763Cys Multiple submitters Inborn genetic diseases ⚠
p.Val1103Ile Multiple submitters Inborn genetic diseases ⚠
p.Val1176Met Multiple submitters Inborn genetic diseases ⚠
p.Val1201Ile Multiple submitters IGF1R-related disorder
p.Val1277Ile Multiple submitters ⚠
p.Val331Ile Multiple submitters ⚠
p.Val525Ile Multiple submitters Inborn genetic diseases ⚠
p.Val554Met Multiple submitters ⚠
p.Val617Ile Multiple submitters Inborn genetic diseases ⚠
p.Val986Leu Multiple submitters Inborn genetic diseases
c.1103-6A>G Single submitter
c.1247+10C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.1248-3T>C Single submitter
c.1248-3T>G Single submitter
c.1462+13A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.1589+1G>A Single submitter
c.1590-20_1590-19inv Single submitter
c.1829-6C>T Single submitter
c.1997-6G>C Single submitter
c.2201+8G>A Single submitter
c.2485+3A>G Single submitter
c.2486-3C>A Single submitter
c.2622+4G>A Single submitter
c.2956+9C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.3178_3186+7del Single submitter growth delay due to insulin-like growth factor I resistance
c.3187-3C>T Single submitter
c.3458-3C>T Single submitter
c.3588-8C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.3722+4C>A Single submitter
c.3723-6C>T Single submitter
c.640+19_640+20delinsAT Single submitter
c.640+56664A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.94+4765A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.953+3C>T Single submitter
c.953+7C>A Single submitter
c.-43T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.-4A>G Single submitter
c.*1015C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1042C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1064A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*1150G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1186G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1229G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1262A>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*1287C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*1360T>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1361T>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1383C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1406G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*149C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1512C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1513C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1548G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1555C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1572G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1578C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1600A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*1617T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*1671G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1681A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*1763A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1767T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*1799C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1823C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1897G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1904G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1925C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1931C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1932C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1945C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*1991G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*1999G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*199C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*2064T>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*2087G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*2128C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*213C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*2224A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*2296G>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*231A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*2343C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*2344G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*2379T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*2414A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*2426A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*251A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*2571A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*257A>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*2595G>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*2596T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*2610_*2613del Single submitter
c.*2639A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*2685T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*2808T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*2812A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*2880C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*291C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*2952C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*2998A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*3041A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*3113A>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*3197G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3199C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3200C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3252G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3299C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3302A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*3327G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3364T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*336C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3380C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*3420G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3445C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3457C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3463G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*346C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3470C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3489G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3526G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3563T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*3584C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3616C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*3620A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*3624C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*362T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*3641G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3664G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3688G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*3714C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3793C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*3818A>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*3855G>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3980C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*3999A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*4080C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4149C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4186A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*4231G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*42C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4349A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*4351A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*4392G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4404G>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4406C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4437C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4438G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4445C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*447C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4494G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*44C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4552T>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4691T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*4761C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4765G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4792C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4816C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4817C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4835A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4857A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*4861C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*4889T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*4920C>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*4980G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*49C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*502T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*506C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5092C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5144G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5152T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5187G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5404G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5428A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5468C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5481C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5488A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5515C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5516G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5518G>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*5527C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5565A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5571G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*55G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*55G>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*5633A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5639A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5693T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5708T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*5712G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*5718A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5735T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*5739dup Single submitter
c.*5742C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5749T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*574C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*5762T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5788_*5789del Single submitter
c.*5791G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*57G>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*5865T>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5877A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*5926T>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*6028A>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6076A>C Single submitter growth delay due to insulin-like growth factor I resistance
c.*6091C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6095C>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*6096G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*6123C>T Single submitter growth delay due to insulin-like growth factor I resistance
c.*6124G>A Single submitter growth delay due to insulin-like growth factor I resistance
c.*6144A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*6175A>G Single submitter growth delay due to insulin-like growth factor I resistance
c.*621G>A Single submitter growth delay due to insulin-like growth factor I resistance