EXOSC8 — 121 ClinVar variants
All ClinVar germline EXOSC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 4 Conflicting · 9 Benign · 3 Benign/Likely benign · 38 Likely benign · 64 Uncertain significance
Full EXOSC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EXOSC8 p.Arg190Lys Uncertain significance Multiple submitters
- EXOSC8 p.Arg94Gln Uncertain significance Multiple submitters
- EXOSC8 p.Asp143Asn Uncertain significance Multiple submitters
- EXOSC8 p.Asp202Val Uncertain significance Multiple submitters
- EXOSC8 p.Ile170Val Uncertain significance Multiple submitters
- EXOSC8 p.Ile270Phe Uncertain significance Multiple submitters
- EXOSC8 p.Thr71Ala Uncertain significance Multiple submitters
- EXOSC8 p.Ala158Val Uncertain significance Single submitter
- EXOSC8 p.Ala246Thr Uncertain significance Single submitter
- EXOSC8 p.Ala3Ser Uncertain significance Single submitter
- EXOSC8 p.Ala3Val Uncertain significance Single submitter
- EXOSC8 p.Ala45Thr Uncertain significance Single submitter
-
EXOSC8 p.Arg23Cys
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 1C
- EXOSC8 p.Arg254Gln Uncertain significance Single submitter
- EXOSC8 p.Asn162Asp Uncertain significance Single submitter
- EXOSC8 p.Asn82Asp Uncertain significance Single submitter
- EXOSC8 p.Asp72Glu Uncertain significance Single submitter
- EXOSC8 p.Asp84Gly Uncertain significance Single submitter
- EXOSC8 p.Cys89Tyr Uncertain significance Single submitter
- EXOSC8 p.Glu268Lys Uncertain significance Single submitter
- EXOSC8 p.Gly4Ala Uncertain significance Single submitter
- EXOSC8 p.His192Asn Uncertain significance Single submitter
- EXOSC8 p.His236Gln Uncertain significance Single submitter
- EXOSC8 p.His259Tyr Uncertain significance Single submitter
-
EXOSC8 p.Leu232Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 1C
- EXOSC8 p.Leu88Pro Uncertain significance Single submitter
- EXOSC8 p.Lys19Glu Uncertain significance Single submitter
- EXOSC8 p.Lys274Asn Uncertain significance Single submitter
- EXOSC8 p.Lys276Arg Uncertain significance Single submitter
- EXOSC8 p.Phe154Leu Uncertain significance Single submitter
- EXOSC8 p.Pro10Ser Uncertain significance Single submitter
-
EXOSC8 p.Pro210Thr
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 1C
- EXOSC8 p.Pro275Leu Uncertain significance Single submitter
- EXOSC8 p.Ser106Arg Uncertain significance Single submitter
- EXOSC8 p.Ser272Ile Uncertain significance Single submitter
- EXOSC8 p.Ser43Gly Uncertain significance Single submitter
- EXOSC8 p.Thr34Asn Uncertain significance Single submitter
- EXOSC8 p.Thr35Ile Uncertain significance Single submitter
- EXOSC8 p.Thr56Ala Uncertain significance Single submitter
- EXOSC8 p.Thr57Ala Uncertain significance Single submitter
- EXOSC8 p.Val163Ala Uncertain significance Single submitter
- EXOSC8 p.Val256Phe Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EXOSC8 p.Asp145Asn Uncertain significance Single submitter
- EXOSC8 p.Asp75Val Uncertain significance Single submitter
- EXOSC8 p.Phe32Leu Uncertain significance Single submitter
-
EXOSC8 p.Phe5Leu
Conflicting
Single submitter
pontocerebellar hypoplasia, type 1C
-
EXOSC8 p.Pro81Ser
Uncertain significance
Single submitter
pontocerebellar hypoplasia, type 1C
-
EXOSC8 p.Ser272Thr
Conflicting
Single submitter
pontocerebellar hypoplasia, type 1C
- EXOSC8 p.Val132Leu Uncertain significance Single submitter
- EXOSC8 p.Val79Ala Uncertain significance Single submitter
-
EXOSC8 p.Ala2Val
Pathogenic
No assertion criteria
pontocerebellar hypoplasia, type 1C
All EXOSC8 variants
Pathogenic 2
- p.Ser90Ter Single submitter spastic ataxia
- p.Ala2Val No assertion criteria pontocerebellar hypoplasia, type 1C ⚠
Likely pathogenic 1
- p.Pro87fs Single submitter pontocerebellar hypoplasia, type 1C
Conflicting classifications of pathogenicity 4
- p.Ala246fs Single submitter pontocerebellar hypoplasia, type 1C
- p.Gly30del Single submitter pontocerebellar hypoplasia, type 1C
- p.Phe5Leu Single submitter pontocerebellar hypoplasia, type 1C ⚠
- p.Ser272Thr Single submitter pontocerebellar hypoplasia, type 1C ⚠
Benign 9
- c.193-83A>C Multiple submitters
- c.391-61T>G Multiple submitters
- p.Gln107= Multiple submitters pontocerebellar hypoplasia, type 1C
- c.18-15del Single submitter
- c.239-35dup Single submitter
- c.608+93_608+95del Single submitter
- p.Pro87His Single submitter
- p.Ser91Leu Single submitter
- p.Thr153= Single submitter
Benign/Likely benign 3
- c.118+7A>T Multiple submitters
- c.55-10_55-9del Multiple submitters pontocerebellar hypoplasia, type 1C
- p.Leu142= Multiple submitters
Likely benign 38
- c.239-19T>C Multiple submitters
- c.391-7A>G Multiple submitters
- p.Ala158= Multiple submitters
- c.118+11A>G Single submitter
- c.17+19C>A Single submitter
- c.17+7G>A Single submitter
- c.17+8T>C Single submitter
- c.192+7C>T Single submitter
- c.192+8dup Single submitter
- c.345-12C>T Single submitter
- c.390+11T>G Single submitter
- c.391-9C>G Single submitter
- c.487+16A>G Single submitter
- c.487+20del Single submitter
- c.488-19C>G Single submitter
- c.488-19C>T Single submitter
- c.488-5C>A Single submitter
- c.54+15_54+16insATAA Single submitter
- c.54+20A>G Single submitter
- c.608+10T>C Single submitter
- c.608+19_608+22del Single submitter
- c.609-16T>A Single submitter
- c.609-19del Single submitter
- c.609-19T>A Single submitter
- c.609-6T>G Single submitter
- c.715+16T>G Single submitter
- p.Ala151= Single submitter
- p.Ala2= Single submitter
- p.Ala3= Single submitter
- p.Asp209= Single submitter
- p.Gln103= Single submitter
- p.Ile109= Single submitter
- p.Leu157= Single submitter
- p.Leu265= Single submitter
- p.Pro69= Single submitter
- p.Tyr144= Single submitter
- p.Tyr78= Single submitter
- p.Thr7= No assertion criteria EXOSC8-related disorder
Uncertain significance 64
- p.Arg190Lys Multiple submitters ⚠
- p.Arg94Gln Multiple submitters ⚠
- p.Asn180fs Multiple submitters pontocerebellar hypoplasia, type 1C
- p.Asp143Asn Multiple submitters ⚠
- p.Asp202Val Multiple submitters ⚠
- p.Ile170Val Multiple submitters ⚠
- p.Ile270Phe Multiple submitters ⚠
- p.Leu50Phe Multiple submitters
- p.Thr71Ala Multiple submitters ⚠
- c.17+1G>T Single submitter pontocerebellar hypoplasia, type 1C
- c.17+5del Single submitter pontocerebellar hypoplasia, type 1C
- c.192+5G>C Single submitter
- c.193-15T>C Single submitter
- c.390+5G>A Single submitter
- c.609-3T>C Single submitter
- p.Ala158Val Single submitter ⚠
- p.Ala246Thr Single submitter ⚠
- p.Ala3Ser Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala45Thr Single submitter ⚠
- p.Ala64Val Single submitter
- p.Arg16del Single submitter
- p.Arg23Cys Single submitter pontocerebellar hypoplasia, type 1C ⚠
- p.Arg254Gln Single submitter ⚠
- p.Asn162Asp Single submitter ⚠
- p.Asn82Asp Single submitter ⚠
- p.Asp145Asn Single submitter ⚠
- p.Asp72Glu Single submitter ⚠
- p.Asp75Val Single submitter ⚠
- p.Asp84Gly Single submitter ⚠
- p.Cys89Tyr Single submitter ⚠
- p.Glu261Ter Single submitter pontocerebellar hypoplasia, type 1C
- p.Glu268Lys Single submitter ⚠
- p.Gly4Ala Single submitter ⚠
- p.His192Asn Single submitter ⚠
- p.His236Gln Single submitter ⚠
- p.His259Tyr Single submitter ⚠
- p.Leu181del Single submitter
- p.Leu232Pro Single submitter pontocerebellar hypoplasia, type 1C ⚠
- p.Leu88Pro Single submitter ⚠
- p.Lys19Glu Single submitter ⚠
- p.Lys274Asn Single submitter ⚠
- p.Lys276Arg Single submitter ⚠
- p.Met1Arg Single submitter
- p.Phe154Leu Single submitter ⚠
- p.Phe32Leu Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro210Thr Single submitter pontocerebellar hypoplasia, type 1C ⚠
- p.Pro275Leu Single submitter ⚠
- p.Pro81Ser Single submitter pontocerebellar hypoplasia, type 1C ⚠
- p.Ser106Arg Single submitter ⚠
- p.Ser272Ile Single submitter ⚠
- p.Ser43Gly Single submitter ⚠
- p.Thr34Asn Single submitter ⚠
- p.Thr35Ile Single submitter ⚠
- p.Thr56Ala Single submitter ⚠
- p.Thr57Ala Single submitter ⚠
- p.Val132Leu Single submitter ⚠
- p.Val163Ala Single submitter ⚠
- p.Val179Phe Single submitter
- p.Val256Phe Single submitter ⚠
- p.Val51Leu Single submitter
- p.Val79Ala Single submitter ⚠
- c.192+1G>A No assertion criteria EXOSC8-related disorder