RPTOR — 122 ClinVar variants
All ClinVar germline RPTOR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 100 flagged for review →
7 Benign · 9 Likely benign · 106 Uncertain significance
Full RPTOR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 100
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 lean, ClinVar uncertain 73
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RPTOR p.Ala1165Ser Uncertain significance Single submitter
- RPTOR p.Ala1303Val Uncertain significance Single submitter
- RPTOR p.Ala29Val Uncertain significance Single submitter
- RPTOR p.Ala402Val Uncertain significance Single submitter
- RPTOR p.Ala845Thr Uncertain significance Single submitter
- RPTOR p.Ala880Val Uncertain significance Single submitter
- RPTOR p.Ala941Thr Uncertain significance Single submitter
- RPTOR p.Ala953Thr Uncertain significance Single submitter
- RPTOR p.Ala964Thr Uncertain significance Single submitter
- RPTOR p.Arg1021Lys Uncertain significance Single submitter
- RPTOR p.Arg1066Gln Uncertain significance Single submitter
- RPTOR p.Arg1154Cys Uncertain significance Single submitter
- RPTOR p.Arg1178His Uncertain significance Single submitter
- RPTOR p.Arg369His Uncertain significance Single submitter
- RPTOR p.Arg404Gln Uncertain significance Single submitter
- RPTOR p.Arg660Gln Uncertain significance Single submitter
- RPTOR p.Arg849Cys Uncertain significance Single submitter
- RPTOR p.Arg905Gln Uncertain significance Single submitter
- RPTOR p.Arg905Trp Uncertain significance Single submitter
- RPTOR p.Arg991Gln Uncertain significance Single submitter
- RPTOR p.Asn1281Ser Uncertain significance Single submitter
- RPTOR p.Asn239Ser Uncertain significance Single submitter
- RPTOR p.Asn303Ser Uncertain significance Single submitter
- RPTOR p.Asn361Ser Uncertain significance Single submitter
- RPTOR p.Asn557Ser Uncertain significance Single submitter
- RPTOR p.Asp1224Asn Uncertain significance Single submitter
- RPTOR p.Asp610Asn Uncertain significance Single submitter
- RPTOR p.Asp891Val Uncertain significance Single submitter
- RPTOR p.Asp961Asn Uncertain significance Single submitter
- RPTOR p.Cys505Gly Uncertain significance Single submitter
- RPTOR p.Gln1220Lys Uncertain significance Single submitter
- RPTOR p.Gln1264Glu Uncertain significance Single submitter
- RPTOR p.Gln334Pro Uncertain significance Single submitter
- RPTOR p.Gln915His Uncertain significance Single submitter
- RPTOR p.Glu16Gly Uncertain significance Single submitter
- RPTOR p.Glu614Lys Uncertain significance Single submitter
- RPTOR p.Gly582Ser Uncertain significance Single submitter
- RPTOR p.His919Tyr Uncertain significance Single submitter
- RPTOR p.Ile1093Met Uncertain significance Single submitter
- RPTOR p.Ile1093Val Uncertain significance Single submitter
- RPTOR p.Ile1252Met Uncertain significance Single submitter
- RPTOR p.Ile1261Val Uncertain significance Single submitter
- RPTOR p.Ile222Val Uncertain significance Single submitter
- RPTOR p.Ile319Val Uncertain significance Single submitter
- RPTOR p.Leu332Val Uncertain significance Single submitter
- RPTOR p.Leu6Gln Uncertain significance Single submitter
- RPTOR p.Lys1008Thr Uncertain significance Single submitter
- RPTOR p.Lys894Gln Uncertain significance Single submitter
- RPTOR p.Met254Val Uncertain significance Single submitter
- RPTOR p.Pro156His Uncertain significance Single submitter
- RPTOR p.Pro224Ser Uncertain significance Single submitter
- RPTOR p.Pro824Ala Uncertain significance Single submitter
- RPTOR p.Pro847Leu Uncertain significance Single submitter
- RPTOR p.Pro906Leu Uncertain significance Single submitter
- RPTOR p.Pro95Ala Uncertain significance Single submitter
- RPTOR p.Ser483Leu Uncertain significance Single submitter
- RPTOR p.Ser791Gly Uncertain significance Single submitter
- RPTOR p.Thr1122Met Uncertain significance Single submitter
- RPTOR p.Thr307Ala Uncertain significance Single submitter
- RPTOR p.Thr395Met Uncertain significance Single submitter
- RPTOR p.Thr548Met Uncertain significance Single submitter
- RPTOR p.Thr699Asn Uncertain significance Single submitter
- RPTOR p.Thr889Ile Uncertain significance Single submitter
- RPTOR p.Thr954Met Uncertain significance Single submitter
- RPTOR p.Val1040Ile Uncertain significance Single submitter
- RPTOR p.Val1204Ile Uncertain significance Single submitter
- RPTOR p.Val1215Met Uncertain significance Single submitter
- RPTOR p.Val203Ile Uncertain significance Single submitter
- RPTOR p.Val424Met Uncertain significance Single submitter
- RPTOR p.Val439Leu Uncertain significance Single submitter
- RPTOR p.Val672Phe Uncertain significance Single submitter
- RPTOR p.Val729Ile Uncertain significance Single submitter
- RPTOR p.Val843Met Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- RPTOR p.Ala1039Thr Uncertain significance Single submitter
- RPTOR p.Ala523Val Uncertain significance Single submitter
- RPTOR p.Arg485Gln Uncertain significance Single submitter
- RPTOR p.Asp1151Asn Uncertain significance Single submitter
- RPTOR p.Asp1322Asn Uncertain significance Single submitter
- RPTOR p.Gln121His Uncertain significance Single submitter
- RPTOR p.Glu1209Gln Uncertain significance Single submitter
- RPTOR p.Glu632Lys Uncertain significance Single submitter
- RPTOR p.Glu977Gln Uncertain significance Single submitter
- RPTOR p.Gly1009Ala Uncertain significance Single submitter
- RPTOR p.Gly1255Ala Uncertain significance Single submitter
- RPTOR p.His642Arg Uncertain significance Single submitter
- RPTOR p.Lys1097Asn Uncertain significance Single submitter
- RPTOR p.Lys272Asn Uncertain significance Single submitter
- RPTOR p.Met422Ile Uncertain significance Single submitter
- RPTOR p.Phe959Ser Uncertain significance Single submitter
- RPTOR p.Pro1036Leu Uncertain significance Single submitter
- RPTOR p.Pro407Arg Uncertain significance Single submitter
- RPTOR p.Pro569Leu Uncertain significance Single submitter
- RPTOR p.Ser630Phe Uncertain significance Single submitter
- RPTOR p.Ser760Arg Uncertain significance Single submitter
- RPTOR p.Thr625Met Uncertain significance Single submitter
- RPTOR p.Val1327Met Uncertain significance Single submitter
- RPTOR p.Val444Met Uncertain significance Single submitter
- RPTOR p.Val627Met Uncertain significance Single submitter
- RPTOR p.Val671Met Uncertain significance Single submitter
- RPTOR p.Val681Met Uncertain significance Single submitter
All RPTOR variants
Benign 7
- p.Cys617= Multiple submitters
- p.Glu1074= Multiple submitters
- p.Ser599= Multiple submitters
- p.Thr395= Multiple submitters
- p.Thr548= Multiple submitters
- c.3140+9C>T Single submitter
- p.Pro975= Single submitter
Likely benign 9
- c.3140+7A>G Single submitter
- p.Arg1222His Single submitter
- p.Arg532= Single submitter
- p.His777Tyr Single submitter
- p.Leu573= Single submitter
- p.Met658Val Single submitter
- p.Ser1283Gly Single submitter
- p.Thr1206= Single submitter
- p.Tyr605Cys Single submitter
Uncertain significance 106
- p.Ala1039Thr Single submitter ⚠
- p.Ala1165Ser Single submitter ⚠
- p.Ala1303Val Single submitter ⚠
- p.Ala29Val Single submitter ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala523Val Single submitter ⚠
- p.Ala845Thr Single submitter ⚠
- p.Ala880Val Single submitter ⚠
- p.Ala941Thr Single submitter ⚠
- p.Ala953Thr Single submitter ⚠
- p.Ala964Thr Single submitter ⚠
- p.Arg1021Lys Single submitter ⚠
- p.Arg1066Gln Single submitter ⚠
- p.Arg1154Cys Single submitter ⚠
- p.Arg1178His Single submitter ⚠
- p.Arg1237His Single submitter
- p.Arg276Cys Single submitter
- p.Arg369His Single submitter ⚠
- p.Arg404Gln Single submitter ⚠
- p.Arg485Gln Single submitter ⚠
- p.Arg660Gln Single submitter ⚠
- p.Arg849Cys Single submitter ⚠
- p.Arg905Gln Single submitter ⚠
- p.Arg905Trp Single submitter ⚠
- p.Arg991Gln Single submitter ⚠
- p.Asn1281Ser Single submitter ⚠
- p.Asn239Ser Single submitter ⚠
- p.Asn303Ser Single submitter ⚠
- p.Asn361Ser Single submitter ⚠
- p.Asn557Ser Single submitter ⚠
- p.Asp1151Asn Single submitter ⚠
- p.Asp1224Asn Single submitter ⚠
- p.Asp1322Asn Single submitter ⚠
- p.Asp610Asn Single submitter ⚠
- p.Asp891Val Single submitter ⚠
- p.Asp961Asn Single submitter ⚠
- p.Cys505Gly Single submitter ⚠
- p.Gln121His Single submitter ⚠
- p.Gln1220Lys Single submitter ⚠
- p.Gln1264Glu Single submitter ⚠
- p.Gln334Pro Single submitter ⚠
- p.Gln915His Single submitter ⚠
- p.Glu1209Gln Single submitter ⚠
- p.Glu16Gly Single submitter ⚠
- p.Glu614Lys Single submitter ⚠
- p.Glu632Lys Single submitter ⚠
- p.Glu977Gln Single submitter ⚠
- p.Gly1009Ala Single submitter ⚠
- p.Gly1255Ala Single submitter ⚠
- p.Gly582Ser Single submitter ⚠
- p.His642Arg Single submitter ⚠
- p.His919Tyr Single submitter ⚠
- p.Ile1093Met Single submitter ⚠
- p.Ile1093Val Single submitter ⚠
- p.Ile1252Met Single submitter ⚠
- p.Ile1261Val Single submitter ⚠
- p.Ile222Val Single submitter ⚠
- p.Ile319Val Single submitter ⚠
- p.Leu332Val Single submitter ⚠
- p.Leu539fs Single submitter
- p.Leu6Gln Single submitter ⚠
- p.Lys1008Thr Single submitter ⚠
- p.Lys1097Asn Single submitter ⚠
- p.Lys272Asn Single submitter ⚠
- p.Lys661Met Single submitter
- p.Lys894Gln Single submitter ⚠
- p.Met254Val Single submitter ⚠
- p.Met422Ile Single submitter ⚠
- p.Phe959Ser Single submitter ⚠
- p.Pro1036Leu Single submitter ⚠
- p.Pro156His Single submitter ⚠
- p.Pro224Ser Single submitter ⚠
- p.Pro256Ser Single submitter
- p.Pro407Arg Single submitter ⚠
- p.Pro569Leu Single submitter ⚠
- p.Pro657Ala Single submitter
- p.Pro824Ala Single submitter ⚠
- p.Pro847Leu Single submitter ⚠
- p.Pro906Leu Single submitter ⚠
- p.Pro95Ala Single submitter ⚠
- p.Ser483Leu Single submitter ⚠
- p.Ser630Phe Single submitter ⚠
- p.Ser760Arg Single submitter ⚠
- p.Ser791Gly Single submitter ⚠
- p.Thr1122Met Single submitter ⚠
- p.Thr307Ala Single submitter ⚠
- p.Thr395Met Single submitter ⚠
- p.Thr548Met Single submitter ⚠
- p.Thr625Met Single submitter ⚠
- p.Thr699Asn Single submitter ⚠
- p.Thr889Ile Single submitter ⚠
- p.Thr954Met Single submitter ⚠
- p.Val1040Ile Single submitter ⚠
- p.Val1204Ile Single submitter ⚠
- p.Val1215Met Single submitter ⚠
- p.Val1327Met Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val424Met Single submitter ⚠
- p.Val439Leu Single submitter ⚠
- p.Val444Met Single submitter ⚠
- p.Val627Met Single submitter ⚠
- p.Val671Met Single submitter ⚠
- p.Val672Phe Single submitter ⚠
- p.Val681Met Single submitter ⚠
- p.Val729Ile Single submitter ⚠
- p.Val843Met Single submitter ⚠