CUL7 — 1034 ClinVar variants
All ClinVar germline CUL7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 422 flagged for review →
73 Pathogenic · 9 Pathogenic/Likely pathogenic · 50 Likely pathogenic · 65 Conflicting · 35 Benign · 25 Benign/Likely benign · 306 Likely benign · 471 Uncertain significance
Full CUL7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 422
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 23
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CUL7 p.Ala1017Thr
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Ala871Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1164Trp
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Arg1542Trp
Conflicting
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg183Gln
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Arg356His
Conflicting
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg46Trp
Conflicting
Single submitter
3M syndrome 1
- CUL7 p.Arg47Cys Conflicting Single submitter
-
CUL7 p.Arg881His
Conflicting
Single submitter
Inborn genetic diseases
- CUL7 p.Arg882Gln Conflicting Single submitter
- CUL7 p.Arg983His Conflicting Single submitter
-
CUL7 p.Cys486Tyr
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Glu50Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CUL7 p.Glu608Gly
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Gly1016Ser
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Ile1062Val
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Leu1626Val
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Pro620Leu
Conflicting
Single submitter
Inborn genetic diseases
- CUL7 p.Pro861Ser Conflicting Single submitter
-
CUL7 p.Ser1442Pro
Conflicting
Single submitter
Inborn genetic diseases
-
CUL7 p.Tyr989Asp
Conflicting
Single submitter
Inborn genetic diseases
-
CUL7 p.Val1524Ile
Conflicting
Single submitter
Inborn genetic diseases
-
CUL7 p.Val708Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 319
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 319
-
CUL7 p.Ala1202Val
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Ala272Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ala585Thr
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Ala993Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg1027His
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg1095His
Uncertain significance
Multiple submitters
3M syndrome 1
- CUL7 p.Arg1133Trp Uncertain significance Multiple submitters
-
CUL7 p.Arg1145Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg1316Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg1542Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg1564Trp
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg1640Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg1681Trp
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg1698Gln
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg196Gln
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg256Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg289Thr
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg312His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg325Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg358His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg463Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg47Leu
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg623Cys
Uncertain significance
Multiple submitters
3M syndrome 1
- CUL7 p.Arg661Trp Uncertain significance Multiple submitters
- CUL7 p.Arg6Cys Uncertain significance Multiple submitters
-
CUL7 p.Arg734Cys
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg734His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg773Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Arg787Cys Uncertain significance Multiple submitters
-
CUL7 p.Arg787His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg882Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg940Cys
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg940His
Uncertain significance
Multiple submitters
3M syndrome 1
- CUL7 p.Arg948Cys Uncertain significance Multiple submitters
- CUL7 p.Arg962Leu Uncertain significance Multiple submitters
-
CUL7 p.Arg978Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg983Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg986His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Asn1298Ser Uncertain significance Multiple submitters
-
CUL7 p.Asn849Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Asp1335His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Asp1478Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Asp1639Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Asp444Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Asp444Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Cys1624Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Gln93Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Glu1033Lys Uncertain significance Multiple submitters
- CUL7 p.Glu1354Lys Uncertain significance Multiple submitters
-
CUL7 p.Glu1358Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Glu1561Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Glu1658Lys
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Glu767Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Glu9Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Gly1086Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Gly1257Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Gly1420Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Gly1630Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Gly290Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Gly341Ala Uncertain significance Multiple submitters
-
CUL7 p.Gly395Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Gly795Glu Uncertain significance Multiple submitters
-
CUL7 p.Gly796Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Gly883Ser Uncertain significance Multiple submitters
-
CUL7 p.Gly90Arg
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.His1175Tyr
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.His733Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.His879Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ile529Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ile537Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Leu125Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Leu170Trp
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Leu230Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Leu638Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Lys1332Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Lys788Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Lys855Glu
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Pro1111Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Pro1170Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Pro1521Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Pro850Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ser105Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ser1137Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ser1183Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ser1536Leu
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Ser1608Asn
Uncertain significance
Multiple submitters
3M syndrome 1
- CUL7 p.Ser262Leu Uncertain significance Multiple submitters
-
CUL7 p.Ser922Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ser930Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Thr1449Met
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Thr1651Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Thr1691Ile
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Thr857Met
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Thr918Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Thr972Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Thr985Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Tyr471Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Val1468Met Uncertain significance Multiple submitters
-
CUL7 p.Val1652Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ala1196Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala1204Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala1236Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala1346Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Ala1368Val Uncertain significance Single submitter
- CUL7 p.Ala1489Val Uncertain significance Single submitter
- CUL7 p.Ala1495Thr Uncertain significance Single submitter
- CUL7 p.Ala1501Val Uncertain significance Single submitter
- CUL7 p.Ala1577Thr Uncertain significance Single submitter
- CUL7 p.Ala223Ser Uncertain significance Single submitter
-
CUL7 p.Ala281Thr
Uncertain significance
Single submitter
3M syndrome 1
-
CUL7 p.Ala345Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Ala364Thr Uncertain significance Single submitter
-
CUL7 p.Ala370Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Ala458Thr Uncertain significance Single submitter
-
CUL7 p.Ala461Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala555Val
Uncertain significance
Single submitter
3M syndrome 1
-
CUL7 p.Ala572Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala751Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala853Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala995Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1004Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg1004His Uncertain significance Single submitter
-
CUL7 p.Arg1019His
Uncertain significance
Single submitter
Monogenic short statue
- CUL7 p.Arg1027Cys Uncertain significance Single submitter
- CUL7 p.Arg1085His Uncertain significance Single submitter
- CUL7 p.Arg1117Gly Uncertain significance Single submitter
-
CUL7 p.Arg1145His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1164Gln
Uncertain significance
Single submitter
3M syndrome 1
-
CUL7 p.Arg1164Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1171His
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg1222Gln Uncertain significance Single submitter
-
CUL7 p.Arg1222Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg123Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1241Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1396Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg1440Gln Uncertain significance Single submitter
-
CUL7 p.Arg1445Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1573Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg161Gly Uncertain significance Single submitter
-
CUL7 p.Arg1640Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1681Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1698Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg183Trp Uncertain significance Single submitter
- CUL7 p.Arg289Gly Uncertain significance Single submitter
- CUL7 p.Arg312Cys Uncertain significance Single submitter
-
CUL7 p.Arg321Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg325Gln Uncertain significance Single submitter
-
CUL7 p.Arg353Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg356Cys Uncertain significance Single submitter
- CUL7 p.Arg401Trp Uncertain significance Single submitter
Predictors split 80
The independent predictors disagree with each other — read with care.
-
CUL7 p.Arg1085Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg1094Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg1095Cys
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Arg1190Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL7 p.Arg27Cys Uncertain significance Multiple submitters
-
CUL7 p.Arg360Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg360His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg41Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg716Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg951Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Arg962Gln
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Glu1104Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Leu636Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Lys862Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Met311Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Trp1283Arg
Uncertain significance
Multiple submitters
3M syndrome 1
- CUL7 p.Trp422Leu Uncertain significance Multiple submitters
- CUL7 p.Tyr1646Cys Uncertain significance Multiple submitters
-
CUL7 p.Tyr1646His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Tyr389His
Uncertain significance
Multiple submitters
3M syndrome 1
-
CUL7 p.Val143Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL7 p.Ala146Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Ala181Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1148Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1299Cys
Uncertain significance
Single submitter
3M syndrome 1
-
CUL7 p.Arg1636Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg1636His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Arg178Leu
Conflicting
Single submitter
3M syndrome 1
-
CUL7 p.Arg218His
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Arg27His Uncertain significance Single submitter
- CUL7 p.Arg29Cys Uncertain significance Single submitter
- CUL7 p.Arg358Cys Uncertain significance Single submitter
- CUL7 p.Arg374Trp Uncertain significance Single submitter
- CUL7 p.Arg740Ser Uncertain significance Single submitter
- CUL7 p.Arg931Trp Uncertain significance Single submitter
- CUL7 p.Arg962Trp Uncertain significance Single submitter
- CUL7 p.Asn1477Ser Uncertain significance Single submitter
- CUL7 p.Asn1565Tyr Uncertain significance Single submitter
-
CUL7 p.Asn1568Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Asp103Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Asp1167Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Asp1327His Uncertain significance Single submitter
- CUL7 p.Asp1327Tyr Uncertain significance Single submitter
-
CUL7 p.Asp741Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Cys1146Arg Likely pathogenic Single submitter
-
CUL7 p.Cys797Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Cys908Gly Uncertain significance Single submitter
-
CUL7 p.Gln124His
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Glu210Ala Uncertain significance Single submitter
-
CUL7 p.Glu238Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Glu37Lys Uncertain significance Single submitter
- CUL7 p.Glu391Lys Uncertain significance Single submitter
-
CUL7 p.Glu698Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Glu806Lys
Conflicting
Single submitter
3M syndrome 1
- CUL7 p.Gly1293Ser Uncertain significance Single submitter
- CUL7 p.Gly1452Asp Uncertain significance Single submitter
- CUL7 p.Gly872Arg Uncertain significance Single submitter
- CUL7 p.His139Pro Uncertain significance Single submitter
- CUL7 p.His424Gln Uncertain significance Single submitter
- CUL7 p.His874Gln Uncertain significance Single submitter
- CUL7 p.Leu1629Arg Uncertain significance Single submitter
-
CUL7 p.Leu794Arg
Uncertain significance
Single submitter
3M syndrome 1
-
CUL7 p.Lys855Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Met110Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Met110Val Uncertain significance Single submitter
- CUL7 p.Phe1089Leu Uncertain significance Single submitter
- CUL7 p.Phe237Leu Uncertain significance Single submitter
- CUL7 p.Pro1297Leu Uncertain significance Single submitter
-
CUL7 p.Pro246Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL7 p.Pro246Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Ser1183Asn Uncertain significance Single submitter
-
CUL7 p.Ser1395Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Ser149Arg Uncertain significance Single submitter
-
CUL7 p.Ser1507Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL7 p.Ser365Arg Uncertain significance Single submitter
- CUL7 p.Thr1675Ile Uncertain significance Single submitter
- CUL7 p.Trp1283Cys Uncertain significance Single submitter
- CUL7 p.Tyr257His Uncertain significance Single submitter
- CUL7 p.Val1484Ala Uncertain significance Single submitter
- CUL7 p.Val923Met Uncertain significance Single submitter
All CUL7 variants
Pathogenic 73
- c.2660+1G>C Multiple submitters Inborn genetic diseases
- p.Arg1445Ter Multiple submitters CUL7-related disorder
- p.Arg1573Ter Multiple submitters CUL7-related disorder
- p.Arg382Ter Multiple submitters 3M syndrome 1
- p.Arg722Ter Multiple submitters 3M syndrome 1
- p.Arg904Ter Multiple submitters 3-M syndrome
- p.Gln1303Ter Multiple submitters
- p.Leu1046fs Multiple submitters 3M syndrome 1
- p.Leu1331fs Multiple submitters 3-M syndrome
- p.Ser930fs Multiple submitters
- p.Trp1043Ter Multiple submitters 3M syndrome 1
- p.Trp1127fs Multiple submitters CUL7-related disorder
- p.Trp704Ter Multiple submitters
- p.Trp996Ter Multiple submitters 3M syndrome 1
- p.Val1484fs Multiple submitters CUL7-related disorder
- c.2169+1G>A Single submitter CUL7-related disorder
- c.3173-1G>C Single submitter 3M syndrome 1
- c.4295-6_4313del Single submitter 3M syndrome 1
- c.4773+1G>A Single submitter
- c.727_732+18del Single submitter 3M syndrome 1
- p.Arg1141fs Single submitter
- p.Arg1396Ter Single submitter 3M syndrome 1
- p.Arg1528Ter Single submitter
- p.Arg218fs Single submitter 3M syndrome 1
- p.Arg27fs Single submitter
- p.Arg948fs Single submitter 3-M syndrome
- p.Asn719fs Single submitter 3M syndrome 1
- p.Asn924fs Single submitter
- p.Asp103fs Single submitter Monogenic short statue
- p.Cys219fs Single submitter
- p.Cys711fs Single submitter 3-M syndrome
- p.Cys714_Asp721delinsTer Single submitter
- p.Gln1022Ter Single submitter
- p.Gln1291Ter Single submitter
- p.Gln1302Ter Single submitter
- p.Gln1433Ter Single submitter 3M syndrome 1
- p.Gln1587Ter Single submitter
- p.Gln227Ter Single submitter
- p.Gln510Ter Single submitter
- p.Gln692Ter Single submitter
- p.Gln748Ter Single submitter
- p.Gln813fs Single submitter
- p.Glu1313Ter Single submitter
- p.Glu1455fs Single submitter 3M syndrome 1
- p.Glu1485fs Single submitter
- p.Glu1594fs Single submitter
- p.Glu626Ter Single submitter
- p.Gly910_Asp911insTer Single submitter
- p.Leu1493fs Single submitter
- p.Leu307fs Single submitter 3M syndrome 1
- p.Leu638fs Single submitter
- p.Lys950Ter Single submitter
- p.Met300fs Single submitter
- p.Ser1416fs Single submitter
- p.Ser217fs Single submitter
- p.Ser262Ter Single submitter
- p.Ser854fs Single submitter
- p.Thr140fs Single submitter 3M syndrome 1
- p.Thr890fs Single submitter
- p.Trp1127Ter Single submitter
- p.Trp1538Ter Single submitter
- p.Trp425Ter Single submitter
- p.Trp495Ter Single submitter
- p.Tyr628fs Single submitter
- p.Val744fs Single submitter
- p.Val844fs Single submitter
- c.1570-3C>A No assertion criteria 3M syndrome 1
- c.2064-1G>A No assertion criteria 3M syndrome 1
- p.Arg1528fs No assertion criteria yakut short stature syndrome
- p.Cys1590fs No assertion criteria 3M syndrome 1
- p.Cys982fs No assertion criteria 3-M syndrome
- p.Thr959fs No assertion criteria 3M syndrome 1
- p.Tyr864Ter No assertion criteria 3M syndrome 1
Pathogenic/Likely pathogenic 9
- p.Arg1440Ter Multiple submitters CUL7-related disorder
- p.Arg550Ter Multiple submitters 3M syndrome 1
- p.His1464Pro Multiple submitters 3-M syndrome
- p.Leu1014Arg Multiple submitters CUL7-related disorder
- p.Leu1308_Ser1309insTer Multiple submitters 3M syndrome 1
- p.Leu1588Pro Multiple submitters 3M syndrome 1
- p.Trp464Ter Multiple submitters CUL7-related disorder
- p.Val738fs Multiple submitters 3M syndrome 1
- p.Val88fs Multiple submitters 3M syndrome 1
Likely pathogenic 50
- c.2397+1G>A Multiple submitters 3M syndrome 1
- c.2398-2A>G Multiple submitters 3-M syndrome
- c.3356-2A>C Multiple submitters 3M syndrome 1
- c.1563_1569+5del Single submitter 3M syndrome 1
- c.1569+1G>T Single submitter
- c.2862+1G>A Single submitter 3M syndrome 1
- c.2862+2T>G Single submitter 3M syndrome 1
- c.2863-1G>C Single submitter 3M syndrome 1
- c.3355+5G>A Single submitter
- c.3463-1G>T Single submitter
- c.3645+1G>A Single submitter 3-M syndrome
- c.3645+2T>C Single submitter 3M syndrome 1
- c.3646-1G>T Single submitter 3M syndrome 1
- c.3646-2A>G Single submitter CUL7-related disorder
- c.4023+1G>T Single submitter 3M syndrome 1
- c.4024-16C>G Single submitter
- c.4441-1G>A Single submitter CUL7-related disorder
- c.4441-2A>G Single submitter
- c.-123del Single submitter CUL7-related disorder
- p.Arg1123fs Single submitter 3M syndrome 1
- p.Arg810Ter Single submitter 3M syndrome 1
- p.Asn1427fs Single submitter 3M syndrome 1
- p.Asn921fs Single submitter 3M syndrome 1
- p.Asp59fs Single submitter 3M syndrome 1
- p.Cys1146Arg Single submitter ⚠
- p.Cys1173_Gln1180delinsTer Single submitter 3M syndrome 1
- p.Gln1083fs Single submitter 3M syndrome 1
- p.Gln119fs Single submitter 3M syndrome 1
- p.Gln1341Ter Single submitter 3M syndrome 1
- p.Gln1457Ter Single submitter 3M syndrome 1
- p.Gln514Ter Single submitter 3M syndrome 1
- p.Gln658Ter Single submitter 3M syndrome 1
- p.Gln748fs Single submitter 3M syndrome 1
- p.Gln946Ter Single submitter 3M syndrome 1
- p.Glu1021Lys Single submitter 3M syndrome 1
- p.Glu485fs Single submitter 3M syndrome 1
- p.Glu834fs Single submitter CUL7-related disorder
- p.Gly1510Val Single submitter
- p.Leu1099fs Single submitter 3M syndrome 1
- p.Met69fs Single submitter CUL7-related disorder
- p.Pro613fs Single submitter 3M syndrome 1
- p.Ser217_Arg218del Single submitter 3-M syndrome
- p.Tyr372Ter Single submitter 3M syndrome 1
- p.Val1050fs Single submitter 3M syndrome 1
- p.Val1252fs Single submitter 3M syndrome 1
- p.Arg319Ter No assertion criteria 3M syndrome 1
- p.Gln1229Ter No assertion criteria 3M syndrome 1
- p.Glu1372fs No assertion criteria 3M syndrome 1
- p.Pro1030fs No assertion criteria 3M syndrome 1
- p.Trp494Ter No assertion criteria 3M syndrome 1
Conflicting classifications of pathogenicity 65
- c.1570-8G>A Single submitter
- c.2767-14C>T Single submitter 3M syndrome 1
- c.3463-10T>C Single submitter 3M syndrome 1
- c.4440+13C>T Single submitter 3M syndrome 1
- c.-186A>C Single submitter 3M syndrome 1
- p.Ala1017Thr Single submitter 3M syndrome 1 ⚠
- p.Ala1287= Single submitter
- p.Ala1481= Single submitter 3M syndrome 1
- p.Ala572= Single submitter 3M syndrome 1
- p.Ala743= Single submitter
- p.Ala871Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1164Trp Single submitter 3M syndrome 1 ⚠
- p.Arg1535= Single submitter 3M syndrome 1
- p.Arg1542Trp Single submitter Inborn genetic diseases ⚠
- p.Arg178Leu Single submitter 3M syndrome 1 ⚠
- p.Arg183Gln Single submitter 3M syndrome 1 ⚠
- p.Arg356His Single submitter Inborn genetic diseases ⚠
- p.Arg46Trp Single submitter 3M syndrome 1 ⚠
- p.Arg47Cys Single submitter ⚠
- p.Arg881His Single submitter Inborn genetic diseases ⚠
- p.Arg882Gln Single submitter ⚠
- p.Arg983His Single submitter ⚠
- p.Asn1377= Single submitter 3M syndrome 1
- p.Asn405= Single submitter 3M syndrome 1
- p.Asp52= Single submitter
- p.Asp721= Single submitter
- p.Cys128= Single submitter 3M syndrome 1
- p.Cys486Tyr Single submitter 3M syndrome 1 ⚠
- p.Cys908= Single submitter
- p.Gln1551Ter Single submitter 3M syndrome 1
- p.Gln813Arg Single submitter 3M syndrome 1
- p.Glu1356= Single submitter
- p.Glu1553= Single submitter 3M syndrome 1
- p.Glu50Asp Single submitter Inborn genetic diseases ⚠
- p.Glu608Gly Single submitter 3M syndrome 1 ⚠
- p.Glu806Lys Single submitter 3M syndrome 1 ⚠
- p.Gly1016Ser Single submitter 3M syndrome 1 ⚠
- p.Gly1278= Single submitter
- p.Gly287= Single submitter 3M syndrome 1
- p.Gly872Ser Single submitter 3M syndrome 1
- p.His142= Single submitter 3M syndrome 1
- p.His563= Single submitter 3M syndrome 1
- p.His705= Single submitter 3M syndrome 1
- p.Ile1062Val Single submitter 3M syndrome 1 ⚠
- p.Ile1571= Single submitter
- p.Leu1249= Single submitter 3M syndrome 1
- p.Leu1305= Single submitter 3M syndrome 1
- p.Leu1626Val Single submitter 3M syndrome 1 ⚠
- p.Leu335= Single submitter 3M syndrome 1
- p.Leu530= Single submitter 3M syndrome 1
- p.Leu583= Single submitter 3M syndrome 1
- p.Pro327= Single submitter
- p.Pro620Leu Single submitter Inborn genetic diseases ⚠
- p.Pro861Ser Single submitter ⚠
- p.Ser1091= Single submitter
- p.Ser1353= Single submitter 3M syndrome 1
- p.Ser1442Pro Single submitter Inborn genetic diseases ⚠
- p.Ser1494= Single submitter
- p.Thr1144= Single submitter 3M syndrome 1
- p.Thr1336= Single submitter
- p.Thr918= Single submitter
- p.Tyr1382= Single submitter
- p.Tyr989Asp Single submitter Inborn genetic diseases ⚠
- p.Val1524Ile Single submitter Inborn genetic diseases ⚠
- p.Val708Met Single submitter Inborn genetic diseases ⚠
Benign 35
- p.Asp1032= Multiple submitters 3M syndrome 1
- p.Asp113= Multiple submitters 3M syndrome 1
- p.Gln813= Multiple submitters 3M syndrome 1
- p.Gly1441= Multiple submitters 3M syndrome 1
- p.Gly155= Multiple submitters 3M syndrome 1
- p.Leu1331= Multiple submitters 3M syndrome 1
- p.Leu935= Multiple submitters 3M syndrome 1
- p.Lys1598= Multiple submitters 3M syndrome 1
- p.Thr1633Met Multiple submitters 3M syndrome 1
- c.1234-207GT[18] Single submitter
- c.1234-207GT[19] Single submitter
- c.1234-207GT[20] Single submitter
- c.1234-207GT[25] Single submitter
- c.1234-207GT[26] Single submitter
- c.1234-207GT[27] Single submitter
- c.2169+180C>T Single submitter
- c.2489-15C>G Single submitter
- c.2489-32C>T Single submitter
- c.2766+62A>G Single submitter
- c.2767-7dup Single submitter
- c.3038+109G>A Single submitter
- c.3172+211C>G Single submitter
- c.3172+254del Single submitter
- c.3173-271C>T Single submitter
- c.3646-63T>C Single submitter
- c.4294+257G>A Single submitter
- c.4295-174C>A Single submitter
- c.4295-257A>G Single submitter
- c.581-165G>A Single submitter
- c.732+14del Single submitter
- c.-168C>T Single submitter 3M syndrome 1
- c.-269A>G Single submitter 3M syndrome 1
- c.-300G>C Single submitter 3M syndrome 1
- p.Ala1577= Single submitter
- p.Pro676Leu Single submitter
Benign/Likely benign 25
- c.2488+16C>T Multiple submitters
- c.4295-14C>A Multiple submitters 3M syndrome 1
- p.Ala344Thr Multiple submitters 3M syndrome 1
- p.Ala594Thr Multiple submitters 3M syndrome 1
- p.Ala769= Multiple submitters
- p.Ala871Val Multiple submitters 3M syndrome 1
- p.Arg1232Gln Multiple submitters 3M syndrome 1
- p.Arg401Gln Multiple submitters 3M syndrome 1
- p.Arg661Gln Multiple submitters 3M syndrome 1
- p.Arg852Gln Multiple submitters 3M syndrome 1
- p.Asn868Ser Multiple submitters 3M syndrome 1
- p.Asp1638= Multiple submitters
- p.Gln514His Multiple submitters 3M syndrome 1
- p.Glu391del Multiple submitters
- p.Ile1139Thr Multiple submitters 3M syndrome 1
- p.Ile1292= Multiple submitters 3M syndrome 1
- p.Leu1488Pro Multiple submitters 3M syndrome 1
- p.Leu1588Ile Multiple submitters 3M syndrome 1
- p.Pro343Ser Multiple submitters 3M syndrome 1
- p.Ser1256= Multiple submitters
- p.Ser1645= Multiple submitters 3M syndrome 1
- p.Ser616Gly Multiple submitters 3M syndrome 1
- p.Thr1421Ala Multiple submitters 3M syndrome 1
- p.Thr1696= Multiple submitters 3M syndrome 1
- p.Thr229= Multiple submitters
Likely benign 306
Showing the top 300 by review status; the full set is in the sitemap.
- c.2064-5C>T Multiple submitters
- c.2398-9T>C Multiple submitters
- c.2488+17G>A Multiple submitters
- c.3038+17G>A Multiple submitters
- c.3038+18T>G Multiple submitters
- c.3646-14C>T Multiple submitters
- c.4295-9del Multiple submitters
- c.4774-11C>A Multiple submitters
- c.733-7C>T Multiple submitters
- p.Ala1368= Multiple submitters
- p.Ala1489= Multiple submitters
- p.Ala707= Multiple submitters
- p.Ala871= Multiple submitters
- p.Arg1148Gln Multiple submitters Inborn genetic diseases
- p.Asn1177= Multiple submitters
- p.Asn1477= Multiple submitters
- p.Asp1556= Multiple submitters
- p.Asp593= Multiple submitters
- p.Leu582= Multiple submitters
- p.Lys61= Multiple submitters
- p.Phe1255= Multiple submitters
- p.Pro1049= Multiple submitters
- p.Pro1136= Multiple submitters
- p.Pro343= Multiple submitters
- p.Pro663= Multiple submitters
- p.Pro676= Multiple submitters
- p.Pro850= Multiple submitters
- p.Ser1056= Multiple submitters
- p.Thr1467= Multiple submitters
- p.Tyr565= Multiple submitters
- p.Tyr864= Multiple submitters
- c.1233+12_1233+14del Single submitter
- c.1233+12A>G Single submitter
- c.1233+16T>C Single submitter
- c.1233+17G>C Single submitter
- c.1233+18G>T Single submitter
- c.1234-6C>T Single submitter
- c.1234-9A>G Single submitter
- c.1372+11G>A Single submitter
- c.1372+13A>G Single submitter
- c.1372+14G>A Single submitter
- c.1372+14G>T Single submitter
- c.1372+19C>A Single submitter
- c.1372+9_1372+10del Single submitter
- c.1569+10G>A Single submitter
- c.1569+17G>A Single submitter
- c.1570-20G>A Single submitter
- c.1825+14A>C Single submitter
- c.1826-15_1826-14del Single submitter
- c.1826-16T>C Single submitter
- c.1826-19G>T Single submitter
- c.1826-7C>A Single submitter
- c.2063+19G>A Single submitter
- c.2063+9A>G Single submitter
- c.2064-10C>T Single submitter
- c.2064-15T>A Single submitter
- c.2064-7C>T Single submitter
- c.2169+14G>C Single submitter
- c.2397+11A>G Single submitter
- c.2397+17G>C Single submitter
- c.2397+18C>G Single submitter
- c.2397+18C>T Single submitter
- c.2398-11T>C Single submitter
- c.2398-13G>A Single submitter
- c.2398-17_2398-16del Single submitter
- c.2398-6C>G Single submitter
- c.2488+15C>G Single submitter
- c.2489-5C>T Single submitter
- c.2660+11C>G Single submitter
- c.2660+16A>C Single submitter
- c.2661-20T>G Single submitter
- c.2661-5C>T Single submitter
- c.2661-9C>A Single submitter
- c.2766+11A>G Single submitter
- c.2766+17A>G Single submitter
- c.2862+10G>C Single submitter
- c.2862+15G>A Single submitter
- c.2862+15G>T Single submitter
- c.2862+20G>C Single submitter
- c.2862+9A>G Single submitter
- c.2863-20T>C Single submitter
- c.3038+10_3038+11del Single submitter
- c.3038+10A>T Single submitter
- c.3038+16C>T Single submitter
- c.3038+19G>A Single submitter
- c.3039-16C>G Single submitter
- c.3039-5C>T Single submitter
- c.3172+7A>G Single submitter
- c.3173-12C>A Single submitter
- c.3355+15T>A Single submitter
- c.3462+20C>T Single submitter
- c.3463-11C>A Single submitter
- c.3463-18C>T Single submitter
- c.3463-4C>G Single submitter
- c.3645+39G>A Single submitter
- c.3645+7C>T Single submitter
- c.3646-11C>T Single submitter
- c.3646-9A>C Single submitter
- c.3646-9A>G Single submitter
- c.3806+11A>C Single submitter
- c.3806+11A>G Single submitter
- c.3807-16G>A Single submitter
- c.3807-19C>T Single submitter
- c.3807-20C>G Single submitter
- c.3807-5T>C Single submitter
- c.4024-10G>C Single submitter
- c.4024-14C>T Single submitter
- c.4024-15C>T Single submitter
- c.4295-14C>G Single submitter
- c.4295-14C>T Single submitter
- c.4440+10C>T Single submitter
- c.4440+14G>A Single submitter
- c.4440+18C>T Single submitter
- c.4441-16C>T Single submitter
- c.4567+13G>A Single submitter
- c.4567+8_4567+11del Single submitter
- c.4568-18_4568-16dup Single submitter
- c.4568-19T>C Single submitter
- c.4773+8G>A Single submitter
- c.4774-10C>G Single submitter
- c.4774-17T>C Single submitter
- c.4774-18dup Single submitter
- c.4774-8C>G Single submitter
- c.4774-8C>T Single submitter
- c.580+12T>C Single submitter
- c.580+49G>A Single submitter
- c.732+13G>T Single submitter
- c.732+16G>A Single submitter
- c.733-16A>C Single submitter
- c.733-32_733-17del Single submitter
- c.-272C>T Single submitter 3M syndrome 1
- c.-298C>G Single submitter 3M syndrome 1
- p.Ala1025= Single submitter
- p.Ala1191= Single submitter
- p.Ala1196= Single submitter
- p.Ala1204= Single submitter
- p.Ala1221= Single submitter
- p.Ala1273= Single submitter
- p.Ala1363= Single submitter
- p.Ala1385= Single submitter
- p.Ala1402= Single submitter
- p.Ala146= Single submitter
- p.Ala187= Single submitter
- p.Ala226= Single submitter
- p.Ala272= Single submitter
- p.Ala394= Single submitter
- p.Ala534= Single submitter
- p.Ala540= Single submitter
- p.Ala594= Single submitter
- p.Ala894= Single submitter
- p.Ala993= Single submitter
- p.Arg1085= Single submitter
- p.Arg1445= Single submitter
- p.Arg289= Single submitter
- p.Arg29= Single submitter
- p.Arg722= Single submitter
- p.Arg852= Single submitter
- p.Arg986= Single submitter
- p.Asn1015= Single submitter
- p.Asn1053= Single submitter
- p.Asn1181= Single submitter
- p.Asn268= Single submitter
- p.Asn519= Single submitter
- p.Asn868= Single submitter
- p.Asp1529= Single submitter
- p.Asp1539= Single submitter
- p.Asp1639= Single submitter
- p.Asp439= Single submitter
- p.Asp521= Single submitter
- p.Asp741= Single submitter
- p.Asp753= Single submitter
- p.Asp85= Single submitter
- p.Cys1201= Single submitter
- p.Cys1616= Single submitter
- p.Cys711= Single submitter
- p.Gln315Arg Single submitter
- p.Gln334= Single submitter
- p.Gln586= Single submitter
- p.Gln648= Single submitter
- p.Glu108= Single submitter
- p.Glu1329= Single submitter
- p.Glu1334= Single submitter
- p.Glu295= Single submitter
- p.Glu487= Single submitter
- p.Glu677= Single submitter
- p.Glu677Ala Single submitter Inborn genetic diseases
- p.Glu919= Single submitter
- p.Gly100= Single submitter
- p.Gly130= Single submitter
- p.Gly1348= Single submitter
- p.Gly15= Single submitter
- p.Gly1530= Single submitter
- p.Gly17= Single submitter
- p.Gly398= Single submitter
- p.Gly418= Single submitter
- p.Gly48= Single submitter
- p.Gly53= Single submitter
- p.Gly646= Single submitter
- p.Gly750= Single submitter
- p.Gly803= Single submitter
- p.Gly86= Single submitter
- p.Gly872= Single submitter
- p.Gly955= Single submitter
- p.Gly97= Single submitter
- p.His1175= Single submitter
- p.His1515= Single submitter
- p.His233= Single submitter
- p.His64= Single submitter
- p.Ile1178= Single submitter
- p.Ile1520Val Single submitter Inborn genetic diseases
- p.Ile1625= Single submitter
- p.Ile209= Single submitter
- p.Ile26= Single submitter
- p.Ile40= Single submitter
- p.Ile805= Single submitter
- p.Ile89= Single submitter
- p.Ile944= Single submitter
- p.Leu1008= Single submitter
- p.Leu1068= Single submitter
- p.Leu1100= Single submitter
- p.Leu1179= Single submitter
- p.Leu1194= Single submitter
- p.Leu125= Single submitter
- p.Leu1253= Single submitter
- p.Leu1392= Single submitter
- p.Leu1418= Single submitter
- p.Leu1422= Single submitter
- p.Leu1474= Single submitter
- p.Leu1488= Single submitter
- p.Leu1505= Single submitter
- p.Leu153= Single submitter
- p.Leu1575= Single submitter
- p.Leu221= Single submitter
- p.Leu294= Single submitter
- p.Leu43= Single submitter
- p.Leu45= Single submitter
- p.Leu470= Single submitter
- p.Leu591= Single submitter
- p.Leu624= Single submitter
- p.Leu636= Single submitter
- p.Leu659= Single submitter
- p.Leu669= Single submitter
- p.Leu693= Single submitter
- p.Leu759= Single submitter
- p.Leu772= Single submitter
- p.Leu82= Single submitter
- p.Leu891= Single submitter
- p.Leu916= Single submitter
- p.Leu934= Single submitter
- p.Lys606Arg Single submitter Inborn genetic diseases
- p.Lys757= Single submitter
- p.Lys778= Single submitter
- p.Phe1193= Single submitter
- p.Phe237= Single submitter
- p.Phe363= Single submitter
- p.Phe977= Single submitter
- p.Pro1030= Single submitter
- p.Pro1064= Single submitter
- p.Pro1082= Single submitter
- p.Pro1109Ala Single submitter
- p.Pro1170= Single submitter
- p.Pro13= Single submitter
- p.Pro1511= Single submitter
- p.Pro1521= Single submitter
- p.Pro16= Single submitter
- p.Pro160= Single submitter
- p.Pro1600= Single submitter
- p.Pro36= Single submitter
- p.Pro379= Single submitter
- p.Pro466= Single submitter
- p.Pro697= Single submitter
- p.Pro902= Single submitter
- p.Pro91= Single submitter
- p.Pro975= Single submitter
- p.Ser1434= Single submitter
- p.Ser202= Single submitter
- p.Ser262= Single submitter
- p.Ser644= Single submitter
- p.Ser898= Single submitter Inborn genetic diseases
- p.Thr1160= Single submitter
- p.Thr1449= Single submitter
- p.Thr1506= Single submitter
- p.Thr1548= Single submitter
- p.Thr857= Single submitter
- p.Thr959= Single submitter
- p.Thr972= Single submitter
- p.Thr985= Single submitter
- p.Tyr471= Single submitter
- p.Tyr579= Single submitter
- p.Val1103= Single submitter
- p.Val12= Single submitter
- p.Val1252= Single submitter
- p.Val1365= Single submitter
- p.Val1393= Single submitter
- p.Val1482= Single submitter
- p.Val1589= Single submitter
- p.Val245= Single submitter
- p.Val254= Single submitter
- p.Val373= Single submitter
- p.Val423= Single submitter
Uncertain significance 471
Showing the top 300 by review status; the full set is in the sitemap.
- c.4440+3G>A Multiple submitters
- c.*57A>G Multiple submitters 3M syndrome 1
- p.Ala1202Val Multiple submitters 3M syndrome 1 ⚠
- p.Ala148Gly Multiple submitters
- p.Ala272Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala585Thr Multiple submitters 3M syndrome 1 ⚠
- p.Ala993Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1027His Multiple submitters 3M syndrome 1 ⚠
- p.Arg1085Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1094Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1095Cys Multiple submitters 3M syndrome 1 ⚠
- p.Arg1095His Multiple submitters 3M syndrome 1 ⚠
- p.Arg1133Trp Multiple submitters ⚠
- p.Arg1145Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1190Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg1316Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1542Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1564Trp Multiple submitters 3M syndrome 1 ⚠
- p.Arg1640Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg1681Gly Multiple submitters 3M syndrome 1
- p.Arg1681Trp Multiple submitters 3M syndrome 1 ⚠
- p.Arg1698Gln Multiple submitters 3M syndrome 1 ⚠
- p.Arg196Gln Multiple submitters 3M syndrome 1 ⚠
- p.Arg256Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg27Cys Multiple submitters ⚠
- p.Arg289Thr Multiple submitters 3M syndrome 1 ⚠
- p.Arg312His Multiple submitters Inborn genetic diseases ⚠
- p.Arg325Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg358His Multiple submitters Inborn genetic diseases ⚠
- p.Arg360Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg360His Multiple submitters Inborn genetic diseases ⚠
- p.Arg41Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg463Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg47Leu Multiple submitters 3M syndrome 1 ⚠
- p.Arg623Cys Multiple submitters 3M syndrome 1 ⚠
- p.Arg661Trp Multiple submitters ⚠
- p.Arg6Cys Multiple submitters ⚠
- p.Arg6Ser Multiple submitters Inborn genetic diseases
- p.Arg716Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg734Cys Multiple submitters 3M syndrome 1 ⚠
- p.Arg734His Multiple submitters Inborn genetic diseases ⚠
- p.Arg773Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg787Cys Multiple submitters ⚠
- p.Arg787His Multiple submitters Inborn genetic diseases ⚠
- p.Arg882Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg940Cys Multiple submitters 3M syndrome 1 ⚠
- p.Arg940His Multiple submitters 3M syndrome 1 ⚠
- p.Arg948Cys Multiple submitters ⚠
- p.Arg951Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg962Gln Multiple submitters 3M syndrome 1 ⚠
- p.Arg962Leu Multiple submitters ⚠
- p.Arg978Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg983Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg986His Multiple submitters Inborn genetic diseases ⚠
- p.Asn1298Ser Multiple submitters ⚠
- p.Asn849Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp1335His Multiple submitters Inborn genetic diseases ⚠
- p.Asp1478Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp1639Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp375Tyr Multiple submitters Inborn genetic diseases
- p.Asp444Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp444Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp558Asn Multiple submitters Inborn genetic diseases
- p.Cys1624Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln1677Ter Multiple submitters
- p.Gln93Leu Multiple submitters Inborn genetic diseases ⚠
- p.Glu1033Lys Multiple submitters ⚠
- p.Glu1104Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu1354Lys Multiple submitters ⚠
- p.Glu1358Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu1376del Multiple submitters 3M syndrome 1
- p.Glu1553Arg Multiple submitters
- p.Glu1561Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu1658Lys Multiple submitters 3M syndrome 1 ⚠
- p.Glu767Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu9Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly1039= Multiple submitters 3M syndrome 1
- p.Gly1086Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly1257Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly1420Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly1630Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly290Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly341Ala Multiple submitters ⚠
- p.Gly395Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly795Glu Multiple submitters ⚠
- p.Gly796Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly883Ser Multiple submitters ⚠
- p.Gly90Arg Multiple submitters 3M syndrome 1 ⚠
- p.His1175Tyr Multiple submitters 3M syndrome 1 ⚠
- p.His733Tyr Multiple submitters Inborn genetic diseases ⚠
- p.His879Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile529Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile537Leu Multiple submitters Inborn genetic diseases ⚠
- p.Leu125Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1671Phe Multiple submitters Inborn genetic diseases
- p.Leu170Trp Multiple submitters 3M syndrome 1 ⚠
- p.Leu230Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu636Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu638Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys1332Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys788Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys855Glu Multiple submitters 3M syndrome 1 ⚠
- p.Lys862Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met311Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe1694Val Multiple submitters Inborn genetic diseases
- p.Pro1111Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro1170Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro1521Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro850Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser105Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser1137Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser1183Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser1536Leu Multiple submitters 3M syndrome 1 ⚠
- p.Ser1608Asn Multiple submitters 3M syndrome 1 ⚠
- p.Ser262Leu Multiple submitters ⚠
- p.Ser898Trp Multiple submitters 3M syndrome 1
- p.Ser922Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser930Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr1449Met Multiple submitters 3M syndrome 1 ⚠
- p.Thr1651Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr1691Ile Multiple submitters 3M syndrome 1 ⚠
- p.Thr857Met Multiple submitters 3M syndrome 1 ⚠
- p.Thr918Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr972Lys Multiple submitters Inborn genetic diseases
- p.Thr972Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr985Arg Multiple submitters Inborn genetic diseases ⚠
- p.Trp1283Arg Multiple submitters 3M syndrome 1 ⚠
- p.Trp422Leu Multiple submitters ⚠
- p.Tyr1646Cys Multiple submitters ⚠
- p.Tyr1646His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr389His Multiple submitters 3M syndrome 1 ⚠
- p.Tyr471Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val143Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1468Met Multiple submitters ⚠
- p.Val1652Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val308Leu Multiple submitters 3M syndrome 1
- p.Val744Met Multiple submitters 3M syndrome 1
- c.1234-3C>T Single submitter
- c.1569+76G>C Single submitter 3M syndrome 1
- c.1825+3G>A Single submitter
- c.2169+5C>T Single submitter 3M syndrome 1
- c.2488+4C>T Single submitter
- c.2766+3A>G Single submitter
- c.2766+3A>T Single submitter
- c.2767-17_2767-13dup Single submitter
- c.3039-3C>G Single submitter
- c.3463-15G>T Single submitter 3M syndrome 1
- c.3645+3A>G Single submitter
- c.3806+5G>A Single submitter
- c.580+48C>T Single submitter 3M syndrome 1
- c.733-12T>G Single submitter 3M syndrome 1
- c.-109C>T Single submitter
- c.-157C>T Single submitter
- c.-182G>C Single submitter
- c.-236G>A Single submitter 3M syndrome 1
- c.*71A>G Single submitter 3M syndrome 1
- p.Ala1196Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1204Gly Single submitter Inborn genetic diseases ⚠
- p.Ala1204Thr Single submitter
- p.Ala1236Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1346Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1368Val Single submitter ⚠
- p.Ala146Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1489Val Single submitter ⚠
- p.Ala1495Thr Single submitter ⚠
- p.Ala1501Val Single submitter ⚠
- p.Ala1577Thr Single submitter ⚠
- p.Ala181Val Single submitter Inborn genetic diseases ⚠
- p.Ala20= Single submitter 3M syndrome 1
- p.Ala223Ser Single submitter ⚠
- p.Ala281Thr Single submitter 3M syndrome 1 ⚠
- p.Ala345Val Single submitter Inborn genetic diseases ⚠
- p.Ala364Thr Single submitter ⚠
- p.Ala370Val Single submitter Inborn genetic diseases ⚠
- p.Ala458Thr Single submitter ⚠
- p.Ala461Thr Single submitter Inborn genetic diseases ⚠
- p.Ala555Val Single submitter 3M syndrome 1 ⚠
- p.Ala572Val Single submitter Inborn genetic diseases ⚠
- p.Ala710_Cys711insAla Single submitter
- p.Ala751Val Single submitter Inborn genetic diseases ⚠
- p.Ala853Gly Single submitter Inborn genetic diseases ⚠
- p.Ala995Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1004Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1004His Single submitter ⚠
- p.Arg1019His Single submitter Monogenic short statue ⚠
- p.Arg1027Cys Single submitter ⚠
- p.Arg1085His Single submitter ⚠
- p.Arg1092Trp Single submitter
- p.Arg1117Gly Single submitter ⚠
- p.Arg1145His Single submitter Inborn genetic diseases ⚠
- p.Arg1148Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1164Gln Single submitter 3M syndrome 1 ⚠
- p.Arg1164Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1171His Single submitter Inborn genetic diseases ⚠
- p.Arg1222Gln Single submitter ⚠
- p.Arg1222Trp Single submitter Inborn genetic diseases ⚠
- p.Arg123Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1241Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1299Cys Single submitter 3M syndrome 1 ⚠
- p.Arg1396Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1440Gln Single submitter ⚠
- p.Arg1445Leu Single submitter Inborn genetic diseases ⚠
- p.Arg1573Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1604fs Single submitter
- p.Arg161Gly Single submitter ⚠
- p.Arg1636Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1636His Single submitter Inborn genetic diseases ⚠
- p.Arg1640Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1681Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1698Leu Single submitter
- p.Arg1698Trp Single submitter Inborn genetic diseases ⚠
- p.Arg183Trp Single submitter ⚠
- p.Arg218His Single submitter Inborn genetic diseases ⚠
- p.Arg27His Single submitter ⚠
- p.Arg289Gly Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg312Cys Single submitter ⚠
- p.Arg321Ser Single submitter Inborn genetic diseases ⚠
- p.Arg325Gln Single submitter ⚠
- p.Arg353Lys Single submitter Inborn genetic diseases ⚠
- p.Arg356Cys Single submitter ⚠
- p.Arg358Cys Single submitter ⚠
- p.Arg374Trp Single submitter ⚠
- p.Arg401Trp Single submitter ⚠
- p.Arg419Cys Single submitter ⚠
- p.Arg47His Single submitter Inborn genetic diseases ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg6His Single submitter ⚠
- p.Arg740Ser Single submitter ⚠
- p.Arg773Trp Single submitter ⚠
- p.Arg825= Single submitter
- p.Arg904Gln Single submitter Inborn genetic diseases ⚠
- p.Arg931Gln Single submitter Inborn genetic diseases ⚠
- p.Arg931Trp Single submitter ⚠
- p.Arg948His Single submitter ⚠
- p.Arg951His Single submitter
- p.Arg960Cys Single submitter Inborn genetic diseases ⚠
- p.Arg962Trp Single submitter ⚠
- p.Arg978Gln Single submitter ⚠
- p.Arg992Pro Single submitter ⚠
- p.Asn1156Ser Single submitter ⚠
- p.Asn1157Ser Single submitter ⚠
- p.Asn1177Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1409Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1427Lys Single submitter ⚠
- p.Asn1430Ser Single submitter ⚠
- p.Asn1477Ser Single submitter ⚠
- p.Asn1565Tyr Single submitter ⚠
- p.Asn1568Lys Single submitter Inborn genetic diseases ⚠
- p.Asn367= Single submitter 3M syndrome 1
- p.Asp103Gly Single submitter Inborn genetic diseases ⚠
- p.Asp1058Gly Single submitter Inborn genetic diseases ⚠
- p.Asp113dup Single submitter
- p.Asp1165Tyr Single submitter ⚠
- p.Asp1167Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp1274Glu Single submitter Inborn genetic diseases ⚠
- p.Asp1327His Single submitter ⚠
- p.Asp1327Tyr Single submitter ⚠
- p.Asp1519Ala Single submitter ⚠
- p.Asp1639His Single submitter Inborn genetic diseases ⚠
- p.Asp269Asn Single submitter ⚠
- p.Asp33Asn Single submitter CUL7-related disorder ⚠
- p.Asp33His Single submitter ⚠
- p.Asp387His Single submitter Inborn genetic diseases ⚠
- p.Asp388Glu Single submitter Inborn genetic diseases
- p.Asp505Asn Single submitter 3M syndrome 1 ⚠
- p.Asp553Ala Single submitter Inborn genetic diseases ⚠
- p.Asp741Asn Single submitter Inborn genetic diseases ⚠
- p.Cys1601Arg Single submitter
- p.Cys1616Ter Single submitter 3M syndrome 1
- p.Cys562= Single submitter
- p.Cys797Arg Single submitter Inborn genetic diseases ⚠
- p.Cys908Gly Single submitter ⚠
- p.Gln119Lys Single submitter ⚠
- p.Gln124His Single submitter Inborn genetic diseases ⚠
- p.Gln1303Arg Single submitter Inborn genetic diseases ⚠
- p.Gln1306His Single submitter ⚠
- p.Gln1447His Single submitter ⚠
- p.Gln1457His Single submitter ⚠
- p.Gln1597Glu Single submitter Inborn genetic diseases ⚠
- p.Gln1677fs Single submitter 3M syndrome 1
- p.Gln1677Lys Single submitter Inborn genetic diseases
- p.Gln186His Single submitter Inborn genetic diseases ⚠
- p.Gln198= Single submitter
- p.Gln206= Single submitter
- p.Gln206Glu Single submitter ⚠
- p.Gln241His Single submitter Inborn genetic diseases ⚠
- p.Gln334Lys Single submitter 3M syndrome 1 ⚠
- p.Gln615Arg Single submitter Inborn genetic diseases ⚠
- p.Gln799Arg Single submitter ⚠
- p.Gln87Arg Single submitter Inborn genetic diseases ⚠
- p.Gln980Arg Single submitter Inborn genetic diseases ⚠
- p.Gln994Arg Single submitter ⚠
- p.Glu126Gly Single submitter Inborn genetic diseases ⚠
- p.Glu1357Lys Single submitter 3M syndrome 1 ⚠
- p.Glu1372Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1455Asp Single submitter
- p.Glu1516Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1561= Single submitter 3M syndrome 1
- p.Glu207del Single submitter 3M syndrome 1