EXOSC2 — 290 ClinVar variants
All ClinVar germline EXOSC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 121 flagged for review →
2 Likely pathogenic · 5 Conflicting · 11 Benign · 2 Benign/Likely benign · 125 Likely benign · 145 Uncertain significance
Full EXOSC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 121
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
EXOSC2 p.Gly30Val
Conflicting
Single submitter
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Predictors lean, ClinVar uncertain 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EXOSC2 p.Arg181Trp Uncertain significance Multiple submitters
- EXOSC2 p.Arg236Trp Uncertain significance Multiple submitters
- EXOSC2 p.Arg238Trp Uncertain significance Multiple submitters
- EXOSC2 p.Arg87Leu Uncertain significance Multiple submitters
- EXOSC2 p.Glu213Asp Uncertain significance Multiple submitters
- EXOSC2 p.Gly293Glu Uncertain significance Multiple submitters
- EXOSC2 p.Leu166Val Uncertain significance Multiple submitters
- EXOSC2 p.Leu228Arg Uncertain significance Multiple submitters
- EXOSC2 p.Leu251Val Uncertain significance Multiple submitters
- EXOSC2 p.Lys65Thr Uncertain significance Multiple submitters
- EXOSC2 p.Met282Leu Uncertain significance Multiple submitters
- EXOSC2 p.Met5Leu Uncertain significance Multiple submitters
-
EXOSC2 p.Met5Val
Uncertain significance
Multiple submitters
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- EXOSC2 p.Ser106Leu Uncertain significance Multiple submitters
- EXOSC2 p.Ser111Leu Uncertain significance Multiple submitters
- EXOSC2 p.Ala10Val Uncertain significance Single submitter
- EXOSC2 p.Ala143Thr Uncertain significance Single submitter
- EXOSC2 p.Ala54Pro Uncertain significance Single submitter
- EXOSC2 p.Ala54Thr Uncertain significance Single submitter
- EXOSC2 p.Ala54Val Uncertain significance Single submitter
- EXOSC2 p.Arg11Ser Uncertain significance Single submitter
- EXOSC2 p.Arg181Gln Uncertain significance Single submitter
- EXOSC2 p.Arg20Ser Uncertain significance Single submitter
- EXOSC2 p.Arg236Gln Uncertain significance Single submitter
- EXOSC2 p.Asn222Ser Uncertain significance Single submitter
- EXOSC2 p.Asp139Glu Uncertain significance Single submitter
- EXOSC2 p.Asp151Asn Uncertain significance Single submitter
- EXOSC2 p.Asp151Val Uncertain significance Single submitter
- EXOSC2 p.Asp31His Uncertain significance Single submitter
- EXOSC2 p.Asp31Val Uncertain significance Single submitter
- EXOSC2 p.Asp36Val Uncertain significance Single submitter
- EXOSC2 p.Gln247Arg Uncertain significance Single submitter
- EXOSC2 p.Glu128Lys Uncertain significance Single submitter
- EXOSC2 p.Glu210Ala Uncertain significance Single submitter
- EXOSC2 p.Glu283Gln Uncertain significance Single submitter
- EXOSC2 p.Gly138Arg Uncertain significance Single submitter
- EXOSC2 p.Gly152Ala Uncertain significance Single submitter
- EXOSC2 p.Gly198Cys Uncertain significance Single submitter
- EXOSC2 p.Gly201Ser Uncertain significance Single submitter
- EXOSC2 p.Gly58Arg Uncertain significance Single submitter
- EXOSC2 p.Gly81Ala Uncertain significance Single submitter
- EXOSC2 p.His185Pro Uncertain significance Single submitter
- EXOSC2 p.His266Tyr Uncertain significance Single submitter
- EXOSC2 p.Ile220Thr Uncertain significance Single submitter
- EXOSC2 p.Ile220Val Uncertain significance Single submitter
- EXOSC2 p.Ile53Val Uncertain significance Single submitter
- EXOSC2 p.Ile67Thr Uncertain significance Single submitter
- EXOSC2 p.Leu251Pro Uncertain significance Single submitter
- EXOSC2 p.Leu7Ile Uncertain significance Single submitter
- EXOSC2 p.Lys12Glu Uncertain significance Single submitter
- EXOSC2 p.Lys212Glu Uncertain significance Single submitter
- EXOSC2 p.Lys23Arg Uncertain significance Single submitter
- EXOSC2 p.Met113Val Uncertain significance Single submitter
- EXOSC2 p.Met47Val Uncertain significance Single submitter
- EXOSC2 p.Pro13Ser Uncertain significance Single submitter
- EXOSC2 p.Pro29Leu Uncertain significance Single submitter
- EXOSC2 p.Pro8Ser Uncertain significance Single submitter
- EXOSC2 p.Ser106Pro Uncertain significance Single submitter
- EXOSC2 p.Thr22Ala Uncertain significance Single submitter
- EXOSC2 p.Thr22Pro Uncertain significance Single submitter
- EXOSC2 p.Thr22Ser Uncertain significance Single submitter
- EXOSC2 p.Thr45Met Uncertain significance Single submitter
- EXOSC2 p.Tyr163Cys Uncertain significance Single submitter
- EXOSC2 p.Val85Ala Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
- EXOSC2 p.Arg238Gln Uncertain significance Multiple submitters
- EXOSC2 p.Arg285Cys Uncertain significance Multiple submitters
- EXOSC2 p.Arg285His Benign Multiple submitters
- EXOSC2 p.Arg62Thr Uncertain significance Multiple submitters
- EXOSC2 p.Glu275Lys Uncertain significance Multiple submitters
-
EXOSC2 p.Lys65Asn
Uncertain significance
Multiple submitters
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- EXOSC2 p.Phe219Leu Uncertain significance Multiple submitters
- EXOSC2 p.Pro190Leu Uncertain significance Multiple submitters
- EXOSC2 p.Ser243Leu Uncertain significance Multiple submitters
- EXOSC2 p.Thr158Met Uncertain significance Multiple submitters
- EXOSC2 p.Thr208Ile Uncertain significance Multiple submitters
-
EXOSC2 p.Tyr206His
Uncertain significance
Multiple submitters
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- EXOSC2 p.Ala125Val Uncertain significance Single submitter
- EXOSC2 p.Ala143Ser Uncertain significance Single submitter
- EXOSC2 p.Ala147Val Uncertain significance Single submitter
- EXOSC2 p.Arg11Cys Uncertain significance Single submitter
- EXOSC2 p.Arg285Leu Uncertain significance Single submitter
-
EXOSC2 p.Arg87Gln
Conflicting
Single submitter
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- EXOSC2 p.Asn199Ser Uncertain significance Single submitter
- EXOSC2 p.Asp230Asn Uncertain significance Single submitter
- EXOSC2 p.Asp36Asn Uncertain significance Single submitter
- EXOSC2 p.Cys240Ser Uncertain significance Single submitter
- EXOSC2 p.Gln136Arg Uncertain significance Single submitter
- EXOSC2 p.Gln173Leu Uncertain significance Single submitter
- EXOSC2 p.Gln92His Uncertain significance Single submitter
- EXOSC2 p.Glu224Lys Uncertain significance Single submitter
- EXOSC2 p.Glu232Gly Uncertain significance Single submitter
- EXOSC2 p.Glu4Gln Uncertain significance Single submitter
- EXOSC2 p.Glu90Asp Uncertain significance Single submitter
- EXOSC2 p.Glu90Gly Uncertain significance Single submitter
- EXOSC2 p.Gly167Arg Uncertain significance Single submitter
- EXOSC2 p.Gly198Ala Uncertain significance Single submitter
- EXOSC2 p.Gly198Ser Uncertain significance Single submitter
- EXOSC2 p.Gly217Arg Uncertain significance Single submitter
- EXOSC2 p.His187Arg Uncertain significance Single submitter
- EXOSC2 p.His266Leu Uncertain significance Single submitter
- EXOSC2 p.Ile141Val Uncertain significance Single submitter
- EXOSC2 p.Ile196Val Uncertain significance Single submitter
- EXOSC2 p.Ile234Val Uncertain significance Single submitter
- EXOSC2 p.Ile268Met Uncertain significance Single submitter
-
EXOSC2 p.Ile268Ser
Uncertain significance
Single submitter
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- EXOSC2 p.Ile33Val Uncertain significance Single submitter
- EXOSC2 p.Leu104Met Likely benign Single submitter
- EXOSC2 p.Leu129Phe Uncertain significance Single submitter
- EXOSC2 p.Leu7Phe Uncertain significance Single submitter
- EXOSC2 p.Met40Leu Uncertain significance Single submitter
- EXOSC2 p.Pro225Leu Uncertain significance Single submitter
- EXOSC2 p.Pro8Leu Uncertain significance Single submitter
- EXOSC2 p.Ser112Cys Uncertain significance Single submitter
- EXOSC2 p.Ser175Phe Uncertain significance Single submitter
- EXOSC2 p.Thr284Ile Uncertain significance Single submitter
- EXOSC2 p.Thr32Lys Uncertain significance Single submitter
- EXOSC2 p.Thr35Met Uncertain significance Single submitter
- EXOSC2 p.Tyr252Cys Uncertain significance Single submitter
- EXOSC2 p.Tyr252Ser Uncertain significance Single submitter
- EXOSC2 p.Val84Ile Uncertain significance Single submitter
All EXOSC2 variants
Likely pathogenic 2
- p.Gly198Asp Single submitter retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- p.Trp204Ter Single submitter retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Conflicting classifications of pathogenicity 5
- c.673-1G>T Single submitter Neurodevelopmental delay
- c.801+1G>A Single submitter retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- p.Arg231Ter Single submitter retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
- p.Arg87Gln Single submitter retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ⚠
- p.Gly30Val Single submitter retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ⚠
Benign 11
- p.Ala143= Multiple submitters
- p.Arg285His Multiple submitters ⚠
- p.Gln291= Multiple submitters
- c.123-12G>A Single submitter
- c.224+12del Single submitter
- c.270+13T>A Single submitter
- c.271-4A>G Single submitter
- c.361-20C>T Single submitter
- c.495+18T>G Single submitter
- c.673-20C>T Single submitter
- p.Thr184= Single submitter
Likely benign 125
- p.Arg20= Multiple submitters
- p.Asn200= Multiple submitters
- p.Leu161= Multiple submitters
- p.Lys12= Multiple submitters
- p.Ser106= Multiple submitters
- c.122+13T>C Single submitter
- c.122+14T>C Single submitter
- c.122+16G>A Single submitter
- c.122+16G>C Single submitter
- c.122+19G>T Single submitter
- c.122+9G>A Single submitter
- c.123-13C>T Single submitter
- c.224+10A>G Single submitter
- c.224+16G>A Single submitter
- c.224+17T>C Single submitter
- c.224+18G>A Single submitter
- c.225-16G>T Single submitter
- c.225-4T>G Single submitter
- c.270+13T>C Single submitter
- c.270+14C>G Single submitter
- c.270+16G>A Single submitter
- c.270+18T>A Single submitter
- c.270+18T>C Single submitter
- c.270+8C>T Single submitter
- c.270+9G>A Single submitter
- c.271-20G>A Single submitter
- c.271-7C>T Single submitter
- c.271-9G>T Single submitter
- c.360+10A>G Single submitter
- c.360+11C>A Single submitter
- c.360+11C>T Single submitter
- c.360+20_360+47del Single submitter
- c.361-11G>A Single submitter
- c.361-15C>A Single submitter
- c.361-15C>T Single submitter
- c.361-16del Single submitter
- c.361-9G>A Single submitter
- c.426+11C>G Single submitter
- c.426+16C>T Single submitter
- c.426+18C>T Single submitter
- c.426+9C>T Single submitter
- c.427-10C>T Single submitter
- c.427-18C>G Single submitter
- c.427-19C>T Single submitter
- c.427-20T>G Single submitter
- c.427-7T>C Single submitter
- c.495+16G>T Single submitter
- c.495+20T>G Single submitter
- c.495+7C>T Single submitter
- c.495+8G>A Single submitter
- c.495+9G>A Single submitter
- c.496-11T>C Single submitter
- c.496-12A>G Single submitter
- c.496-14A>T Single submitter
- c.496-16T>C Single submitter
- c.496-17G>A Single submitter
- c.496-17G>C Single submitter
- c.496-18C>T Single submitter
- c.496-19T>C Single submitter
- c.672+11A>G Single submitter
- c.672+15_672+16del Single submitter
- c.672+20A>G Single submitter
- c.673-14G>C Single submitter
- c.673-20C>G Single submitter
- c.801+10C>T Single submitter
- c.801+11C>T Single submitter
- c.801+12A>C Single submitter
- c.801+17C>A Single submitter
- c.801+7T>G Single submitter
- c.801+8C>T Single submitter
- c.802-12T>C Single submitter
- c.802-14T>C Single submitter
- p.Ala2= Single submitter
- p.Ala221= Single submitter
- p.Ala229= Single submitter
- p.Ala54= Single submitter
- p.Arg132= Single submitter
- p.Arg238= Single submitter
- p.Arg285= Single submitter
- p.Arg6= Single submitter
- p.Asp151= Single submitter
- p.Asp188= Single submitter
- p.Asp21= Single submitter
- p.Cys240= Single submitter
- p.Gln92= Single submitter
- p.Glu128= Single submitter
- p.Glu144= Single submitter
- p.Glu215= Single submitter
- p.Gly138= Single submitter
- p.Gly38= Single submitter
- p.Gly42= Single submitter
- p.His187= Single submitter
- p.His25= Single submitter
- p.Ile83= Single submitter
- p.Ile88= Single submitter
- p.Leu104Met Single submitter ⚠
- p.Leu108= Single submitter
- p.Leu110= Single submitter
- p.Leu14= Single submitter
- p.Leu166= Single submitter
- p.Leu197= Single submitter
- p.Leu228= Single submitter
- p.Leu251= Single submitter
- p.Leu257= Single submitter
- p.Leu52= Single submitter
- p.Leu7= Single submitter
- p.Lys212= Single submitter
- p.Lys273= Single submitter
- p.Phe149= Single submitter
- p.Phe39= Single submitter
- p.Pro29= Single submitter
- p.Pro8= Single submitter
- p.Ser111= Single submitter
- p.Ser112= Single submitter
- p.Ser150= Single submitter
- p.Ser235= Single submitter
- p.Ser243= Single submitter
- p.Thr158= Single submitter
- p.Thr32= Single submitter
- p.Thr34= Single submitter
- p.Tyr206= Single submitter
- p.Val107= Single submitter
- p.Val56= Single submitter
- p.Val69= Single submitter
- p.Val91= Single submitter
Uncertain significance 145
- p.Arg181Trp Multiple submitters ⚠
- p.Arg236Trp Multiple submitters ⚠
- p.Arg238Gln Multiple submitters ⚠
- p.Arg238Trp Multiple submitters ⚠
- p.Arg285Cys Multiple submitters ⚠
- p.Arg62Thr Multiple submitters ⚠
- p.Arg87Leu Multiple submitters ⚠
- p.Glu213Asp Multiple submitters ⚠
- p.Glu275Lys Multiple submitters ⚠
- p.Gly293Glu Multiple submitters ⚠
- p.Leu166Val Multiple submitters ⚠
- p.Leu228Arg Multiple submitters ⚠
- p.Leu251Val Multiple submitters ⚠
- p.Lys65Asn Multiple submitters retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ⚠
- p.Lys65Thr Multiple submitters ⚠
- p.Met282Leu Multiple submitters ⚠
- p.Met5Leu Multiple submitters ⚠
- p.Met5Val Multiple submitters retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ⚠
- p.Phe219Leu Multiple submitters ⚠
- p.Pro190Leu Multiple submitters ⚠
- p.Ser106Leu Multiple submitters ⚠
- p.Ser111Leu Multiple submitters ⚠
- p.Ser243Leu Multiple submitters ⚠
- p.Thr158Met Multiple submitters ⚠
- p.Thr208Ile Multiple submitters ⚠
- p.Tyr206His Multiple submitters retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ⚠
- c.122+2T>G Single submitter
- c.122+4C>T Single submitter
- c.122+5G>A Single submitter
- c.224+3G>A Single submitter
- c.270+5C>T Single submitter
- c.270+6G>A Single submitter
- c.271-1G>A Single submitter
- c.426+367G>T Single submitter
- c.495+1G>T Single submitter
- c.496-1G>A Single submitter
- c.672+3G>A Single submitter
- c.673-3T>C Single submitter
- c.673-5T>G Single submitter
- c.801+3A>G Single submitter
- c.801+6C>T Single submitter
- p.Ala10Val Single submitter ⚠
- p.Ala125Val Single submitter ⚠
- p.Ala143Ser Single submitter ⚠
- p.Ala143Thr Single submitter ⚠
- p.Ala147Val Single submitter ⚠
- p.Ala54Pro Single submitter ⚠
- p.Ala54Thr Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Arg11Cys Single submitter ⚠
- p.Arg11Ser Single submitter ⚠
- p.Arg181Gln Single submitter ⚠
- p.Arg20Ser Single submitter ⚠
- p.Arg236fs Single submitter
- p.Arg236Gln Single submitter ⚠
- p.Arg285Leu Single submitter ⚠
- p.Arg287fs Single submitter
- p.Arg62fs Single submitter
- p.Arg87Ter Single submitter
- p.Asn199Ser Single submitter ⚠
- p.Asn222Ser Single submitter ⚠
- p.Asp139Glu Single submitter ⚠
- p.Asp151Asn Single submitter ⚠
- p.Asp151Val Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Asp31His Single submitter ⚠
- p.Asp31Val Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Asp36Val Single submitter ⚠
- p.Cys240Ser Single submitter ⚠
- p.Gln136Arg Single submitter ⚠
- p.Gln136Ter Single submitter
- p.Gln168fs Single submitter
- p.Gln173Leu Single submitter ⚠
- p.Gln247Arg Single submitter ⚠
- p.Gln92His Single submitter ⚠
- p.Glu128Lys Single submitter ⚠
- p.Glu210Ala Single submitter ⚠
- p.Glu224Lys Single submitter ⚠
- p.Glu232Gly Single submitter ⚠
- p.Glu283Gln Single submitter ⚠
- p.Glu4Gln Single submitter ⚠
- p.Glu90Asp Single submitter ⚠
- p.Glu90Gly Single submitter ⚠
- p.Gly138Arg Single submitter ⚠
- p.Gly152Ala Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly198Ala Single submitter ⚠
- p.Gly198Cys Single submitter ⚠
- p.Gly198Ser Single submitter ⚠
- p.Gly201Ser Single submitter ⚠
- p.Gly217Arg Single submitter ⚠
- p.Gly218fs Single submitter
- p.Gly58Arg Single submitter ⚠
- p.Gly81Ala Single submitter ⚠
- p.His185Pro Single submitter ⚠
- p.His187Arg Single submitter ⚠
- p.His266Leu Single submitter ⚠
- p.His266Tyr Single submitter ⚠
- p.Ile141Val Single submitter ⚠
- p.Ile196Val Single submitter ⚠
- p.Ile220Thr Single submitter ⚠
- p.Ile220Val Single submitter ⚠
- p.Ile234Val Single submitter ⚠
- p.Ile268Met Single submitter ⚠
- p.Ile268Ser Single submitter retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ⚠
- p.Ile33Val Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Ile67Thr Single submitter ⚠
- p.Leu129Phe Single submitter ⚠
- p.Leu251Pro Single submitter ⚠
- p.Leu7Ile Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys12Glu Single submitter ⚠
- p.Lys212Glu Single submitter ⚠
- p.Lys23Arg Single submitter ⚠
- p.Met113Val Single submitter ⚠
- p.Met277fs Single submitter
- p.Met40Ile Single submitter
- p.Met40Leu Single submitter ⚠
- p.Met47Val Single submitter ⚠
- p.Pro13Ser Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro29Leu Single submitter ⚠
- p.Pro8fs Single submitter
- p.Pro8Leu Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Ser106Pro Single submitter ⚠
- p.Ser111fs Single submitter
- p.Ser112Cys Single submitter ⚠
- p.Ser175Phe Single submitter ⚠
- p.Ser243Ter Single submitter
- p.Thr22Ala Single submitter ⚠
- p.Thr22Pro Single submitter ⚠
- p.Thr22Ser Single submitter ⚠
- p.Thr284Ile Single submitter ⚠
- p.Thr32Lys Single submitter ⚠
- p.Thr35Met Single submitter ⚠
- p.Thr45Met Single submitter ⚠
- p.Tyr163Cys Single submitter ⚠
- p.Tyr252Cys Single submitter ⚠
- p.Tyr252Ser Single submitter ⚠
- p.Tyr260del Single submitter
- p.Val84Ile Single submitter ⚠
- p.Val85Ala Single submitter ⚠