INSRR — 220 ClinVar variants
All ClinVar germline INSRR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 163 flagged for review →
5 Benign · 1 Benign/Likely benign · 46 Likely benign · 168 Uncertain significance
Full INSRR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 163
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 115
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- INSRR p.Ile1131Asn Uncertain significance Multiple submitters
- INSRR p.Ala221Val Uncertain significance Single submitter
- INSRR p.Ala257Val Uncertain significance Single submitter
- INSRR p.Ala302Asp Uncertain significance Single submitter
- INSRR p.Ala406Thr Uncertain significance Single submitter
- INSRR p.Ala481Ser Uncertain significance Single submitter
- INSRR p.Ala511Asp Uncertain significance Single submitter
- INSRR p.Ala815Thr Uncertain significance Single submitter
- INSRR p.Ala823Thr Uncertain significance Single submitter
- INSRR p.Ala823Val Uncertain significance Single submitter
- INSRR p.Ala826Val Uncertain significance Single submitter
- INSRR p.Ala871Thr Uncertain significance Single submitter
- INSRR p.Ala917Thr Uncertain significance Single submitter
- INSRR p.Ala963Thr Uncertain significance Single submitter
- INSRR p.Arg1157Leu Uncertain significance Single submitter
- INSRR p.Arg124Cys Uncertain significance Single submitter
- INSRR p.Arg1269Leu Uncertain significance Single submitter
- INSRR p.Arg1269Trp Uncertain significance Single submitter
- INSRR p.Arg136His Uncertain significance Single submitter
- INSRR p.Arg359Cys Uncertain significance Single submitter
- INSRR p.Arg403Gln Uncertain significance Single submitter
- INSRR p.Arg463Leu Uncertain significance Single submitter
- INSRR p.Arg465Trp Uncertain significance Single submitter
- INSRR p.Arg599Gln Uncertain significance Single submitter
- INSRR p.Arg743Pro Uncertain significance Single submitter
- INSRR p.Arg784Trp Uncertain significance Single submitter
- INSRR p.Arg808Leu Uncertain significance Single submitter
- INSRR p.Arg854His Uncertain significance Single submitter
- INSRR p.Asn144Asp Uncertain significance Single submitter
- INSRR p.Asn654His Uncertain significance Single submitter
- INSRR p.Asn756Lys Uncertain significance Single submitter
- INSRR p.Asp1276Asn Uncertain significance Single submitter
- INSRR p.Asp336Asn Uncertain significance Single submitter
- INSRR p.Asp650Tyr Uncertain significance Single submitter
- INSRR p.Asp669Tyr Uncertain significance Single submitter
- INSRR p.Asp903Glu Uncertain significance Single submitter
- INSRR p.Cys228Tyr Uncertain significance Single submitter
- INSRR p.Cys320Trp Uncertain significance Single submitter
- INSRR p.Cys864Trp Uncertain significance Single submitter
- INSRR p.Gln342Arg Uncertain significance Single submitter
- INSRR p.Gln342His Uncertain significance Single submitter
- INSRR p.Glu1030Lys Uncertain significance Single submitter
- INSRR p.Glu1162Lys Uncertain significance Single submitter
- INSRR p.Glu1248Lys Uncertain significance Single submitter
- INSRR p.Glu321Lys Uncertain significance Single submitter
- INSRR p.Gly10Glu Uncertain significance Single submitter
- INSRR p.Gly1270Asp Uncertain significance Single submitter
- INSRR p.Gly1294Cys Uncertain significance Single submitter
- INSRR p.Gly132Arg Uncertain significance Single submitter
- INSRR p.Gly163Ala Uncertain significance Single submitter
- INSRR p.Gly236Ser Uncertain significance Single submitter
- INSRR p.Gly294Ser Uncertain significance Single submitter
- INSRR p.Gly331Val Uncertain significance Single submitter
- INSRR p.Gly674Ser Uncertain significance Single submitter
- INSRR p.Gly696Ser Uncertain significance Single submitter
- INSRR p.Gly742Arg Uncertain significance Single submitter
- INSRR p.Gly986Asp Uncertain significance Single submitter
- INSRR p.Gly986Ser Uncertain significance Single submitter
- INSRR p.His199Arg Uncertain significance Single submitter
- INSRR p.His218Asn Uncertain significance Single submitter
- INSRR p.Ile1246Leu Uncertain significance Single submitter
- INSRR p.Ile16Val Uncertain significance Single submitter
- INSRR p.Ile595Val Uncertain significance Single submitter
- INSRR p.Ile721Val Uncertain significance Single submitter
- INSRR p.Ile725Leu Uncertain significance Single submitter
- INSRR p.Ile725Val Uncertain significance Single submitter
- INSRR p.Ile979Ser Uncertain significance Single submitter
- INSRR p.Leu1214Pro Uncertain significance Single submitter
- INSRR p.Leu382Phe Uncertain significance Single submitter
- INSRR p.Leu417Pro Uncertain significance Single submitter
- INSRR p.Leu487Pro Uncertain significance Single submitter
- INSRR p.Leu621Val Uncertain significance Single submitter
- INSRR p.Lys193Asn Uncertain significance Single submitter
- INSRR p.Lys333Asn Uncertain significance Single submitter
- INSRR p.Met60Ile Uncertain significance Single submitter
- INSRR p.Phe381Leu Uncertain significance Single submitter
- INSRR p.Pro162Ser Uncertain significance Single submitter
- INSRR p.Pro181Ser Uncertain significance Single submitter
- INSRR p.Pro190Leu Uncertain significance Single submitter
- INSRR p.Pro287Ala Uncertain significance Single submitter
- INSRR p.Pro628Arg Uncertain significance Single submitter
- INSRR p.Pro693Ser Uncertain significance Single submitter
- INSRR p.Pro694Leu Uncertain significance Single submitter
- INSRR p.Pro737Ser Uncertain significance Single submitter
- INSRR p.Pro839Thr Uncertain significance Single submitter
- INSRR p.Pro842Leu Uncertain significance Single submitter
- INSRR p.Pro928Ser Uncertain significance Single submitter
- INSRR p.Pro975Ala Uncertain significance Single submitter
- INSRR p.Ser306Cys Uncertain significance Single submitter
- INSRR p.Ser553Arg Uncertain significance Single submitter
- INSRR p.Ser618Thr Uncertain significance Single submitter
- INSRR p.Ser741Thr Uncertain significance Single submitter
- INSRR p.Thr1063Asn Uncertain significance Single submitter
- INSRR p.Thr1240Ile Uncertain significance Single submitter
- INSRR p.Thr1275Ala Uncertain significance Single submitter
- INSRR p.Thr195Asn Uncertain significance Single submitter
- INSRR p.Thr348Lys Uncertain significance Single submitter
- INSRR p.Thr348Met Uncertain significance Single submitter
- INSRR p.Thr77Ser Uncertain significance Single submitter
- INSRR p.Val1010Leu Uncertain significance Single submitter
- INSRR p.Val1010Met Uncertain significance Single submitter
- INSRR p.Val1180Leu Uncertain significance Single submitter
- INSRR p.Val1180Met Uncertain significance Single submitter
- INSRR p.Val1201Leu Uncertain significance Single submitter
- INSRR p.Val126Met Uncertain significance Single submitter
- INSRR p.Val179Met Uncertain significance Single submitter
- INSRR p.Val183Met Uncertain significance Single submitter
- INSRR p.Val247Ile Uncertain significance Single submitter
- INSRR p.Val437Met Uncertain significance Single submitter
- INSRR p.Val533Met Uncertain significance Single submitter
- INSRR p.Val730Ala Uncertain significance Single submitter
- INSRR p.Val832Ile Uncertain significance Single submitter
- INSRR p.Val890Ile Uncertain significance Single submitter
- INSRR p.Val956Ala Uncertain significance Single submitter
- INSRR p.Val974Leu Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- INSRR p.Arg136Cys Uncertain significance Multiple submitters
- INSRR p.Arg279Cys Likely benign Multiple submitters
-
INSRR p.Arg554Cys
Likely benign
Multiple submitters
hereditary sensory and autonomic neuropathy type 4
- INSRR p.Ala1096Thr Uncertain significance Single submitter
- INSRR p.Arg1044Cys Uncertain significance Single submitter
- INSRR p.Arg1064Cys Uncertain significance Single submitter
- INSRR p.Arg1251Trp Uncertain significance Single submitter
- INSRR p.Arg250Cys Uncertain significance Single submitter
- INSRR p.Arg273His Uncertain significance Single submitter
- INSRR p.Arg310Cys Uncertain significance Single submitter
- INSRR p.Arg359His Uncertain significance Single submitter
- INSRR p.Arg43Cys Uncertain significance Single submitter
- INSRR p.Arg75Cys Uncertain significance Single submitter
- INSRR p.Arg835Cys Uncertain significance Single submitter
- INSRR p.Arg835Leu Uncertain significance Single submitter
- INSRR p.Arg87His Uncertain significance Single submitter
- INSRR p.Arg983Gln Uncertain significance Single submitter
- INSRR p.Arg983Gly Uncertain significance Single submitter
- INSRR p.Arg983Trp Uncertain significance Single submitter
- INSRR p.Asn492Lys Uncertain significance Single submitter
- INSRR p.Asn885Ser Uncertain significance Single submitter
- INSRR p.Asp1139Asn Uncertain significance Single submitter
- INSRR p.Cys688Arg Uncertain significance Single submitter
- INSRR p.Cys690Tyr Uncertain significance Single submitter
- INSRR p.Gln1053Arg Uncertain significance Single submitter
- INSRR p.Glu175Gly Uncertain significance Single submitter
- INSRR p.Glu959Gly Uncertain significance Single submitter
- INSRR p.Glu984Asp Uncertain significance Single submitter
- INSRR p.Gly1209Arg Uncertain significance Single submitter
- INSRR p.Gly660Asp Uncertain significance Single submitter
- INSRR p.His386Asn Uncertain significance Single submitter
- INSRR p.His788Asn Uncertain significance Single submitter
- INSRR p.Ile153Thr Uncertain significance Single submitter
- INSRR p.Leu1250Met Uncertain significance Single submitter
- INSRR p.Leu150Phe Uncertain significance Single submitter
- INSRR p.Leu433Phe Uncertain significance Single submitter
- INSRR p.Leu85Phe Uncertain significance Single submitter
- INSRR p.Phe1204Leu Uncertain significance Single submitter
- INSRR p.Phe713Ser Uncertain significance Single submitter
- INSRR p.Pro724Leu Uncertain significance Single submitter
- INSRR p.Pro969Thr Uncertain significance Single submitter
- INSRR p.Ser271Tyr Uncertain significance Single submitter
- INSRR p.Ser887Ala Uncertain significance Single submitter
- INSRR p.Thr1137Ser Uncertain significance Single submitter
- INSRR p.Thr494Met Uncertain significance Single submitter
- INSRR p.Thr62Ile Uncertain significance Single submitter
- INSRR p.Thr636Ile Uncertain significance Single submitter
- INSRR p.Val1015Leu Uncertain significance Single submitter
All INSRR variants
Benign 5
- c.1811-5C>T Multiple submitters
- p.Gln763= Multiple submitters
- p.Ser371= Multiple submitters
- p.Ser427= Multiple submitters
- c.1811-10G>A Single submitter
Benign/Likely benign 1
- c.3663-5A>G Multiple submitters
Likely benign 46
- p.Arg279Cys Multiple submitters ⚠
- p.Arg554Cys Multiple submitters hereditary sensory and autonomic neuropathy type 4 ⚠
- p.Cys246Arg Multiple submitters hereditary sensory and autonomic neuropathy type 4
- p.Thr1171= Multiple submitters
- p.Val596Ile Multiple submitters
- c.1230-9C>A Single submitter
- c.1810+16G>A Single submitter
- c.2574+19C>T Single submitter
- c.2843+15C>T Single submitter
- c.3397+23G>A Single submitter hereditary sensory and autonomic neuropathy type 4
- c.3397+28C>T Single submitter
- p.Ala1160= Single submitter
- p.Ala127Glu Single submitter
- p.Ala133= Single submitter
- p.Ala340= Single submitter
- p.Ala954Thr Single submitter
- p.Arg105= Single submitter
- p.Arg1286Lys Single submitter
- p.Arg279His Single submitter
- p.Arg855= Single submitter
- p.Arg87Cys Single submitter
- p.Arg95= Single submitter
- p.Asp178= Single submitter
- p.Asp405= Single submitter
- p.Asp67= Single submitter
- p.Gln1086Arg Single submitter
- p.Gln303His Single submitter
- p.Gly1179= Single submitter
- p.Gly649Ser Single submitter
- p.His1113= Single submitter
- p.Ile595= Single submitter
- p.Ile818= Single submitter
- p.Leu1089= Single submitter
- p.Leu259= Single submitter
- p.Leu390= Single submitter
- p.Leu500= Single submitter
- p.Phe293= Single submitter
- p.Pro1263= Single submitter
- p.Pro263= Single submitter
- p.Pro750= Single submitter
- p.Ser19Phe Single submitter
- p.Ser900= Single submitter
- p.Thr1008= Single submitter
- p.Thr1014= Single submitter
- p.Thr796= Single submitter
- p.Thr932= Single submitter
Uncertain significance 168
- p.Arg136Cys Multiple submitters ⚠
- p.Ile1131Asn Multiple submitters ⚠
- p.Ala1096Thr Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala257Val Single submitter ⚠
- p.Ala302Asp Single submitter ⚠
- p.Ala406Thr Single submitter ⚠
- p.Ala481Ser Single submitter ⚠
- p.Ala511Asp Single submitter ⚠
- p.Ala815Thr Single submitter ⚠
- p.Ala823Thr Single submitter ⚠
- p.Ala823Val Single submitter ⚠
- p.Ala826Val Single submitter ⚠
- p.Ala871Thr Single submitter ⚠
- p.Ala917Thr Single submitter ⚠
- p.Ala963Thr Single submitter ⚠
- p.Arg1044Cys Single submitter ⚠
- p.Arg1064Cys Single submitter ⚠
- p.Arg1157Leu Single submitter ⚠
- p.Arg124Cys Single submitter ⚠
- p.Arg1251Trp Single submitter ⚠
- p.Arg1269Leu Single submitter ⚠
- p.Arg1269Trp Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg273His Single submitter ⚠
- p.Arg310Cys Single submitter ⚠
- p.Arg359Cys Single submitter ⚠
- p.Arg359His Single submitter ⚠
- p.Arg403Gln Single submitter ⚠
- p.Arg403Leu Single submitter
- p.Arg43Cys Single submitter ⚠
- p.Arg463Leu Single submitter ⚠
- p.Arg465Trp Single submitter ⚠
- p.Arg599Gln Single submitter ⚠
- p.Arg631Ser Single submitter
- p.Arg743Pro Single submitter ⚠
- p.Arg75Cys Single submitter ⚠
- p.Arg784Trp Single submitter ⚠
- p.Arg808Leu Single submitter ⚠
- p.Arg835Cys Single submitter ⚠
- p.Arg835Leu Single submitter ⚠
- p.Arg854His Single submitter ⚠
- p.Arg87His Single submitter ⚠
- p.Arg983Gln Single submitter ⚠
- p.Arg983Gly Single submitter ⚠
- p.Arg983Trp Single submitter ⚠
- p.Asn1081Lys Single submitter
- p.Asn144Asp Single submitter ⚠
- p.Asn492Lys Single submitter ⚠
- p.Asn654His Single submitter ⚠
- p.Asn756Lys Single submitter ⚠
- p.Asn885Ser Single submitter ⚠
- p.Asp1139Asn Single submitter ⚠
- p.Asp1276Asn Single submitter ⚠
- p.Asp336Asn Single submitter ⚠
- p.Asp650Tyr Single submitter ⚠
- p.Asp669Tyr Single submitter ⚠
- p.Asp903Glu Single submitter ⚠
- p.Cys228Tyr Single submitter ⚠
- p.Cys320Trp Single submitter ⚠
- p.Cys688Arg Single submitter ⚠
- p.Cys690Tyr Single submitter ⚠
- p.Cys864Trp Single submitter ⚠
- p.Gln1053Arg Single submitter ⚠
- p.Gln342Arg Single submitter ⚠
- p.Gln342His Single submitter ⚠
- p.Glu1030Lys Single submitter ⚠
- p.Glu1162Lys Single submitter ⚠
- p.Glu1248Lys Single submitter ⚠
- p.Glu175Gly Single submitter ⚠
- p.Glu321Lys Single submitter ⚠
- p.Glu959Gly Single submitter ⚠
- p.Glu984Asp Single submitter ⚠
- p.Gly10Glu Single submitter ⚠
- p.Gly1209Arg Single submitter ⚠
- p.Gly1270Asp Single submitter ⚠
- p.Gly1294Cys Single submitter ⚠
- p.Gly132Arg Single submitter ⚠
- p.Gly163Ala Single submitter ⚠
- p.Gly236Ser Single submitter ⚠
- p.Gly294Ser Single submitter ⚠
- p.Gly331Val Single submitter ⚠
- p.Gly464Arg Single submitter
- p.Gly660Asp Single submitter ⚠
- p.Gly674Ser Single submitter ⚠
- p.Gly696Ser Single submitter ⚠
- p.Gly742Arg Single submitter ⚠
- p.Gly986Asp Single submitter ⚠
- p.Gly986Ser Single submitter ⚠
- p.His199Arg Single submitter ⚠
- p.His218Asn Single submitter ⚠
- p.His386Asn Single submitter ⚠
- p.His788Asn Single submitter ⚠
- p.Ile1246Leu Single submitter ⚠
- p.Ile153Thr Single submitter ⚠
- p.Ile16Val Single submitter ⚠
- p.Ile595Val Single submitter ⚠
- p.Ile721Val Single submitter ⚠
- p.Ile725Leu Single submitter ⚠
- p.Ile725Val Single submitter ⚠
- p.Ile979Ser Single submitter ⚠
- p.Leu1214Pro Single submitter ⚠
- p.Leu1250Met Single submitter ⚠
- p.Leu150Phe Single submitter ⚠
- p.Leu382Phe Single submitter ⚠
- p.Leu417Pro Single submitter ⚠
- p.Leu433Phe Single submitter ⚠
- p.Leu487Pro Single submitter ⚠
- p.Leu621Val Single submitter ⚠
- p.Leu85Phe Single submitter ⚠
- p.Lys193Asn Single submitter ⚠
- p.Lys333Asn Single submitter ⚠
- p.Met60Ile Single submitter ⚠
- p.Phe1204Leu Single submitter ⚠
- p.Phe381Leu Single submitter ⚠
- p.Phe713Ser Single submitter ⚠
- p.Pro162Ser Single submitter ⚠
- p.Pro181Ser Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro287Ala Single submitter ⚠
- p.Pro473Ser Single submitter
- p.Pro628Arg Single submitter ⚠
- p.Pro693Ser Single submitter ⚠
- p.Pro694Leu Single submitter ⚠
- p.Pro724Leu Single submitter ⚠
- p.Pro737Ser Single submitter ⚠
- p.Pro839Thr Single submitter ⚠
- p.Pro842Leu Single submitter ⚠
- p.Pro928Ser Single submitter ⚠
- p.Pro969Thr Single submitter ⚠
- p.Pro975Ala Single submitter ⚠
- p.Ser271Tyr Single submitter ⚠
- p.Ser306Cys Single submitter ⚠
- p.Ser553Arg Single submitter ⚠
- p.Ser618Thr Single submitter ⚠
- p.Ser741Thr Single submitter ⚠
- p.Ser887Ala Single submitter ⚠
- p.Ser93Asn Single submitter
- p.Thr1063Asn Single submitter ⚠
- p.Thr1137Ser Single submitter ⚠
- p.Thr1240Ile Single submitter ⚠
- p.Thr1275Ala Single submitter ⚠
- p.Thr195Asn Single submitter ⚠
- p.Thr348Lys Single submitter ⚠
- p.Thr348Met Single submitter ⚠
- p.Thr494Met Single submitter ⚠
- p.Thr579Arg Single submitter
- p.Thr62Ile Single submitter ⚠
- p.Thr636Ile Single submitter ⚠
- p.Thr77Ser Single submitter ⚠
- p.Val1010Leu Single submitter ⚠
- p.Val1010Met Single submitter ⚠
- p.Val1015Leu Single submitter ⚠
- p.Val1180Leu Single submitter ⚠
- p.Val1180Met Single submitter ⚠
- p.Val1201Leu Single submitter ⚠
- p.Val126Met Single submitter ⚠
- p.Val179Met Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val247Ile Single submitter ⚠
- p.Val437Met Single submitter ⚠
- p.Val533Met Single submitter ⚠
- p.Val730Ala Single submitter ⚠
- p.Val832Ile Single submitter ⚠
- p.Val890Ile Single submitter ⚠
- p.Val956Ala Single submitter ⚠
- p.Val974Leu Single submitter ⚠