EXOSC3 — 293 ClinVar variants
All ClinVar germline EXOSC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 88 flagged for review →
21 Pathogenic · 11 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 14 Conflicting · 12 Benign · 2 Benign/Likely benign · 108 Likely benign · 108 Uncertain significance
Full EXOSC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 88
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
EXOSC3 p.Ala13Pro
Conflicting
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ala5Ser
Conflicting
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Arg18Cys
Conflicting
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Arg18Pro
Conflicting
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Asn56His
Conflicting
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Pro4Leu
Conflicting
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Val110Ile
Conflicting
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Val65Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 67
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EXOSC3 p.Ala139Pro
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ala2Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Arg108Trp
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Arg21Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Cys83Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Ser262Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Ser6Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Ser6Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Thr150Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Tyr225Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Val121Met
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Val159Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Ala123Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ala13Thr
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ala149Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Ala273Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Ala2Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Ala59Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Ala5Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Arg16Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Arg64His
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Asn188Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EXOSC3 p.Asp182Val Uncertain significance Single submitter
-
EXOSC3 p.Asp214Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Asp263Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Asp263Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Cys74Ser
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Gln166Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gln246Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gln246Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- EXOSC3 p.Glu228Asp Uncertain significance Single submitter
- EXOSC3 p.Glu32Lys Uncertain significance Single submitter
- EXOSC3 p.Glu40Gln Uncertain significance Single submitter
-
EXOSC3 p.Gly114Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gly135Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
- EXOSC3 p.Gly191Val Uncertain significance Single submitter
-
EXOSC3 p.Gly197Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gly46Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gly46Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gly68Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gly68Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Gly68Cys
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Gly70Asp
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Gly84Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.His116Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ile118Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ile237Leu
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ile237Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
- EXOSC3 p.Leu12Pro Uncertain significance Single submitter
-
EXOSC3 p.Leu248Ser
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
- EXOSC3 p.Leu29Phe Uncertain significance Single submitter
-
EXOSC3 p.Leu71Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Leu79Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Lys130Gln
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Lys266Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Met178Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Phe231Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Pro138Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Pro45Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Pro52Gln
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Pro69Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
- EXOSC3 p.Pro91Thr Uncertain significance Single submitter
-
EXOSC3 p.Ser11Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Ser183Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Val112Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Val221Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Val28Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 13
The independent predictors disagree with each other — read with care.
-
EXOSC3 p.Tyr225His
Benign
Multiple submitters
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Val131Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EXOSC3 p.Arg64Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Arg73Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Glu3Lys
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Ile181Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Ile207Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Leu199Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Leu227Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Lys266Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Phe231Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EXOSC3 p.Ser104Tyr
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
-
EXOSC3 p.Tyr164Cys
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1B
All EXOSC3 variants
Pathogenic 21
- p.Asp132Ala Multiple submitters pontocerebellar hypoplasia type 1
- p.Glu38fs Multiple submitters pontocerebellar hypoplasia type 1B
- p.Pro52fs Multiple submitters pontocerebellar hypoplasia type 1B
- p.Val99fs Multiple submitters pontocerebellar hypoplasia type 1B
- p.Arg51Ter Single submitter pontocerebellar hypoplasia type 1B
- p.Arg58fs Single submitter pontocerebellar hypoplasia type 1B
- p.Asp132del Single submitter pontocerebellar hypoplasia type 1B
- p.Cys184fs Single submitter pontocerebellar hypoplasia type 1B
- p.Cys184Ter Single submitter pontocerebellar hypoplasia type 1B
- p.Gly135fs Single submitter pontocerebellar hypoplasia type 1B
- p.Gly44fs Single submitter pontocerebellar hypoplasia type 1B
- p.Ile128fs Single submitter pontocerebellar hypoplasia type 1B
- p.Leu141fs Single submitter pontocerebellar hypoplasia type 1B
- p.Met1Ile Single submitter pontocerebellar hypoplasia type 1B
- p.Met1Leu Single submitter pontocerebellar hypoplasia type 1B
- p.Ser140fs Single submitter pontocerebellar hypoplasia type 1B
- p.Ser61fs Single submitter pontocerebellar hypoplasia type 1B
- p.Trp101fs Single submitter pontocerebellar hypoplasia type 1B
- p.Trp238Ter Single submitter pontocerebellar hypoplasia type 1B
- p.Val221fs Single submitter pontocerebellar hypoplasia
- p.Gly191Cys No assertion criteria pontocerebellar hypoplasia type 1B
Pathogenic/Likely pathogenic 11
- p.Arg186Ter Multiple submitters pontocerebellar hypoplasia
- p.Arg208delinsAsnTer Multiple submitters pontocerebellar hypoplasia type 1B
- p.Asn56fs Multiple submitters pontocerebellar hypoplasia type 1B
- p.Asp76fs Multiple submitters pontocerebellar hypoplasia type 1B
- p.Gln105fs Multiple submitters pontocerebellar hypoplasia
- p.Gly31Ala Multiple submitters EXOSC3-related disorder
- p.Met1Thr Multiple submitters pontocerebellar hypoplasia
- p.Met1Val Multiple submitters pontocerebellar hypoplasia type 1B
- p.Tyr100fs Multiple submitters pontocerebellar hypoplasia type 1B
- p.Tyr143fs Multiple submitters pontocerebellar hypoplasia type 1B
- p.Val80Phe Multiple submitters EXOSC3-related disorder
Likely pathogenic 17
- c.624_626+1del Multiple submitters pontocerebellar hypoplasia type 1B
- p.Gly191Asp Multiple submitters pontocerebellar hypoplasia type 1B
- c.325-1G>A Single submitter pontocerebellar hypoplasia type 1B
- c.325-1G>T Single submitter pontocerebellar hypoplasia type 1B
- c.627-1G>C Single submitter pontocerebellar hypoplasia type 1B
- p.Arg154fs Single submitter pontocerebellar hypoplasia type 1B
- p.Asp132fs Single submitter pontocerebellar hypoplasia type 1B
- p.Asp161Gly Single submitter pontocerebellar hypoplasia type 1B
- p.Gln26Ter Single submitter
- p.Glu38Ter Single submitter pontocerebellar hypoplasia
- p.Gly135Glu Single submitter pontocerebellar hypoplasia
- p.Gly235Arg Single submitter pontocerebellar hypoplasia type 1B
- p.Met1Arg Single submitter pontocerebellar hypoplasia type 1B
- p.Pro213fs Single submitter pontocerebellar hypoplasia type 1B
- p.Trp238Arg Single submitter pontocerebellar hypoplasia type 1B
- p.Val27Gly Single submitter
- p.Val80Leu Single submitter
Conflicting classifications of pathogenicity 14
- c.324+15C>T Single submitter pontocerebellar hypoplasia type 1B
- c.325-6T>C Single submitter pontocerebellar hypoplasia type 1B
- c.475-12A>G Single submitter pontocerebellar hypoplasia type 1B
- c.-11T>C Single submitter pontocerebellar hypoplasia type 1B
- p.Ala13Pro Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Ala5Ser Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Arg18Cys Single submitter Inborn genetic diseases ⚠
- p.Arg18Pro Single submitter Inborn genetic diseases ⚠
- p.Asn56His Single submitter Inborn genetic diseases ⚠
- p.Gly14= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu144= Single submitter pontocerebellar hypoplasia type 1B
- p.Pro4Leu Single submitter Inborn genetic diseases ⚠
- p.Val110Ile Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Val65Ile Single submitter Inborn genetic diseases ⚠
Benign 12
- c.325-163T>G Multiple submitters
- c.626+92G>A Multiple submitters
- c.-12G>C Multiple submitters pontocerebellar hypoplasia type 1B
- c.*118G>T Multiple submitters pontocerebellar hypoplasia type 1B
- c.*197C>T Multiple submitters pontocerebellar hypoplasia type 1B
- p.Gln166= Multiple submitters pontocerebellar hypoplasia type 1B
- p.Tyr225His Multiple submitters pontocerebellar hypoplasia type 1B ⚠
- c.474+186A>T Single submitter
- c.474+295A>G Single submitter
- c.627-241T>C Single submitter
- c.*296T>C Single submitter pontocerebellar hypoplasia type 1B
- p.Ser270= Single submitter pontocerebellar hypoplasia type 1B
Benign/Likely benign 2
Likely benign 108
- c.626+245A>C Multiple submitters
- c.*64C>T Multiple submitters pontocerebellar hypoplasia type 1B
- p.Ala8= Multiple submitters pontocerebellar hypoplasia type 1B
- p.Arg51Gly Multiple submitters pontocerebellar hypoplasia type 1B
- p.Arg73= Multiple submitters pontocerebellar hypoplasia type 1B
- p.Asp196= Multiple submitters pontocerebellar hypoplasia type 1B
- p.Asp41= Multiple submitters pontocerebellar hypoplasia type 1B
- p.Ile253Val Multiple submitters Inborn genetic diseases
- p.Leu210= Multiple submitters Inborn genetic diseases
- c.324+16G>A Single submitter pontocerebellar hypoplasia type 1B
- c.324+9G>T Single submitter pontocerebellar hypoplasia type 1B
- c.325-10C>G Single submitter pontocerebellar hypoplasia type 1B
- c.325-20C>T Single submitter pontocerebellar hypoplasia type 1B
- c.474+11del Single submitter pontocerebellar hypoplasia type 1B
- c.474+11G>C Single submitter pontocerebellar hypoplasia type 1B
- c.474+12A>G Single submitter pontocerebellar hypoplasia type 1B
- c.474+13G>A Single submitter pontocerebellar hypoplasia type 1B
- c.474+14C>T Single submitter pontocerebellar hypoplasia type 1B
- c.474+15C>T Single submitter pontocerebellar hypoplasia type 1B
- c.474+16T>C Single submitter pontocerebellar hypoplasia type 1B
- c.474+8C>A Single submitter pontocerebellar hypoplasia type 1B
- c.474+8C>T Single submitter pontocerebellar hypoplasia type 1B
- c.474+9G>A Single submitter pontocerebellar hypoplasia type 1B
- c.475-15T>A Single submitter pontocerebellar hypoplasia type 1B
- c.475-6T>C Single submitter pontocerebellar hypoplasia type 1B
- c.475-8_475-6del Single submitter pontocerebellar hypoplasia type 1B
- c.475-8del Single submitter pontocerebellar hypoplasia type 1B
- c.626+10G>C Single submitter pontocerebellar hypoplasia type 1B
- c.626+11A>G Single submitter pontocerebellar hypoplasia type 1B
- c.626+14T>G Single submitter pontocerebellar hypoplasia type 1B
- c.626+15C>G Single submitter pontocerebellar hypoplasia type 1B
- c.627-12_627-8del Single submitter pontocerebellar hypoplasia type 1B
- c.627-16_627-12del Single submitter pontocerebellar hypoplasia type 1B
- c.627-18C>A Single submitter pontocerebellar hypoplasia type 1B
- c.627-3C>T Single submitter
- c.-203G>A Single submitter
- c.*881A>G Single submitter pontocerebellar hypoplasia type 1B
- p.Ala139= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala17= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala170= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala19= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala2= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala20= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala251= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala42= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala5= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala57= Single submitter pontocerebellar hypoplasia type 1B
- p.Ala9= Single submitter pontocerebellar hypoplasia type 1B
- p.Arg16= Single submitter pontocerebellar hypoplasia type 1B
- p.Arg21= Single submitter pontocerebellar hypoplasia type 1B
- p.Arg271= Single submitter pontocerebellar hypoplasia type 1B
- p.Arg64= Single submitter pontocerebellar hypoplasia type 1B
- p.Arg77= Single submitter pontocerebellar hypoplasia type 1B
- p.Arg87= Single submitter pontocerebellar hypoplasia type 1B
- p.Asn234= Single submitter pontocerebellar hypoplasia type 1B
- p.Asp103= Single submitter pontocerebellar hypoplasia type 1B
- p.Asp132= Single submitter pontocerebellar hypoplasia type 1B
- p.Asp182= Single submitter pontocerebellar hypoplasia type 1B
- p.Asp196Asn Single submitter Inborn genetic diseases
- p.Asp214= Single submitter pontocerebellar hypoplasia type 1B
- p.Cys67= Single submitter pontocerebellar hypoplasia type 1B
- p.Cys83= Single submitter pontocerebellar hypoplasia type 1B
- p.Glu147= Single submitter pontocerebellar hypoplasia type 1B
- p.Glu177= Single submitter pontocerebellar hypoplasia type 1B
- p.Glu228= Single submitter pontocerebellar hypoplasia type 1B
- p.Glu50= Single submitter pontocerebellar hypoplasia type 1B
- p.Gly135= Single submitter pontocerebellar hypoplasia type 1B
- p.Gly148= Single submitter pontocerebellar hypoplasia type 1B
- p.Gly185= Single submitter pontocerebellar hypoplasia type 1B
- p.Gly194= Single submitter pontocerebellar hypoplasia type 1B
- p.Gly197= Single submitter pontocerebellar hypoplasia type 1B
- p.Gly205= Single submitter pontocerebellar hypoplasia type 1B
- p.Gly68= Single submitter
- p.Gly75= Single submitter
- p.Ile193= Single submitter pontocerebellar hypoplasia type 1B
- p.Ile268= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu12= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu141= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu198= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu227= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu24= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu272= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu34= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu35= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu78= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu86= Single submitter pontocerebellar hypoplasia type 1B
- p.Lys107= Single submitter pontocerebellar hypoplasia type 1B
- p.Phe129= Single submitter pontocerebellar hypoplasia type 1B
- p.Phe269= Single submitter pontocerebellar hypoplasia type 1B
- p.Pro138= Single submitter pontocerebellar hypoplasia type 1B
- p.Pro52= Single submitter pontocerebellar hypoplasia type 1B
- p.Ser275= Single submitter pontocerebellar hypoplasia type 1B
- p.Thr122= Single submitter pontocerebellar hypoplasia type 1B
- p.Thr22= Single submitter pontocerebellar hypoplasia type 1B
- p.Thr247= Single submitter pontocerebellar hypoplasia type 1B
- p.Thr261= Single submitter pontocerebellar hypoplasia type 1B
- p.Tyr100= Single submitter pontocerebellar hypoplasia type 1B
- p.Tyr143= Single submitter pontocerebellar hypoplasia type 1B
- p.Tyr225= Single submitter pontocerebellar hypoplasia type 1B
- p.Val112= Single submitter pontocerebellar hypoplasia type 1B
- p.Val179= Single submitter pontocerebellar hypoplasia type 1B
- p.Val221= Single submitter pontocerebellar hypoplasia type 1B
- p.Val23= Single submitter pontocerebellar hypoplasia type 1B
- p.Val27= Single submitter pontocerebellar hypoplasia type 1B
- p.Val49= Single submitter pontocerebellar hypoplasia type 1B
- p.Val7= Single submitter pontocerebellar hypoplasia type 1B
- p.Val80= Single submitter pontocerebellar hypoplasia type 1B
- p.Leu29= No assertion criteria EXOSC3-related disorder
Uncertain significance 108
- p.Ala139Pro Multiple submitters pontocerebellar hypoplasia type 1B ⚠
- p.Ala2Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg108Trp Multiple submitters pontocerebellar hypoplasia type 1B ⚠
- p.Arg18Ser Multiple submitters pontocerebellar hypoplasia type 1B
- p.Arg21Cys Multiple submitters pontocerebellar hypoplasia type 1B ⚠
- p.Cys83Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser262Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser270del Multiple submitters Inborn genetic diseases
- p.Ser6Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser6Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr150Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr261Met Multiple submitters pontocerebellar hypoplasia type 1B
- p.Tyr225Cys Multiple submitters pontocerebellar hypoplasia type 1B ⚠
- p.Val121Met Multiple submitters pontocerebellar hypoplasia type 1B ⚠
- p.Val131Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val159Ala Multiple submitters Inborn genetic diseases ⚠
- c.*194G>C Single submitter pontocerebellar hypoplasia type 1B
- c.*242A>C Single submitter pontocerebellar hypoplasia type 1B
- c.*312T>G Single submitter pontocerebellar hypoplasia type 1B
- c.*354C>A Single submitter pontocerebellar hypoplasia type 1B
- c.*354C>G Single submitter pontocerebellar hypoplasia type 1B
- c.*402C>T Single submitter pontocerebellar hypoplasia type 1B
- c.*419A>G Single submitter pontocerebellar hypoplasia type 1B
- c.*555A>C Single submitter pontocerebellar hypoplasia type 1B
- c.*582A>C Single submitter pontocerebellar hypoplasia type 1B
- c.*611A>G Single submitter pontocerebellar hypoplasia type 1B
- c.*63T>G Single submitter pontocerebellar hypoplasia type 1B
- c.*795A>G Single submitter pontocerebellar hypoplasia type 1B
- c.*812T>G Single submitter pontocerebellar hypoplasia type 1B
- c.*847T>A Single submitter pontocerebellar hypoplasia type 1B
- c.*954G>A Single submitter pontocerebellar hypoplasia type 1B
- p.Ala123Gly Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Ala13Thr Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Ala149Val Single submitter Inborn genetic diseases ⚠
- p.Ala273Thr Single submitter Inborn genetic diseases ⚠
- p.Ala2Gly Single submitter Inborn genetic diseases ⚠
- p.Ala59Val Single submitter Inborn genetic diseases ⚠
- p.Ala5Thr Single submitter Inborn genetic diseases ⚠
- p.Arg16Gly Single submitter Inborn genetic diseases ⚠
- p.Arg186Gln Single submitter pontocerebellar hypoplasia type 1B
- p.Arg271fs Single submitter pontocerebellar hypoplasia type 1B
- p.Arg64Gly Single submitter Inborn genetic diseases ⚠
- p.Arg64His Single submitter Inborn genetic diseases ⚠
- p.Arg73Pro Single submitter Inborn genetic diseases ⚠
- p.Asn188Ser Single submitter Inborn genetic diseases ⚠
- p.Asp182Val Single submitter ⚠
- p.Asp214Gly Single submitter Inborn genetic diseases ⚠
- p.Asp263Ala Single submitter Inborn genetic diseases ⚠
- p.Asp263Asn Single submitter Inborn genetic diseases ⚠
- p.Cys74Ser Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Gln166Arg Single submitter Inborn genetic diseases ⚠
- p.Gln246Lys Single submitter Inborn genetic diseases ⚠
- p.Gln246Pro Single submitter Inborn genetic diseases ⚠
- p.Gln246Thr Single submitter pontocerebellar hypoplasia type 1B
- p.Glu228Asp Single submitter ⚠
- p.Glu274fs Single submitter pontocerebellar hypoplasia type 1B
- p.Glu32Lys Single submitter ⚠
- p.Glu3Lys Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Glu40Gln Single submitter ⚠
- p.Gly114Arg Single submitter Inborn genetic diseases ⚠
- p.Gly126Ala Single submitter pontocerebellar hypoplasia type 1B
- p.Gly135Arg Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Gly191Val Single submitter ⚠
- p.Gly197Val Single submitter Inborn genetic diseases ⚠
- p.Gly46Arg Single submitter Inborn genetic diseases ⚠
- p.Gly46Val Single submitter Inborn genetic diseases ⚠
- p.Gly68Arg Single submitter Inborn genetic diseases ⚠
- p.Gly68Asp Single submitter Inborn genetic diseases ⚠
- p.Gly68Cys Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Gly70Asp Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Gly84Val Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Gly98del Single submitter pontocerebellar hypoplasia type 1B
- p.His116Arg Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Ile118Val Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Ile181Leu Single submitter Inborn genetic diseases ⚠
- p.Ile207Phe Single submitter Inborn genetic diseases ⚠
- p.Ile237Leu Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Ile237Val Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu141del Single submitter
- p.Leu199Phe Single submitter Inborn genetic diseases ⚠
- p.Leu224His Single submitter pontocerebellar hypoplasia type 1B
- p.Leu227Pro Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Leu248Ser Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Leu29Phe Single submitter ⚠
- p.Leu71Val Single submitter Inborn genetic diseases ⚠
- p.Leu79Val Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Lys130Gln Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Lys223Ile Single submitter Inborn genetic diseases
- p.Lys266Arg Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Lys266Asn Single submitter Inborn genetic diseases ⚠
- p.Lys266fs Single submitter
- p.Met178Ile Single submitter Inborn genetic diseases ⚠
- p.Phe231Ser Single submitter Inborn genetic diseases ⚠
- p.Phe231Val Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Pro138Ser Single submitter Inborn genetic diseases ⚠
- p.Pro45Leu Single submitter Inborn genetic diseases ⚠
- p.Pro52Gln Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Pro69Arg Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Pro91Thr Single submitter ⚠
- p.Ser104Tyr Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Ser11Thr Single submitter Inborn genetic diseases ⚠
- p.Ser183Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr164Cys Single submitter pontocerebellar hypoplasia type 1B ⚠
- p.Tyr225fs Single submitter
- p.Val112Ala Single submitter Inborn genetic diseases ⚠
- p.Val221Ala Single submitter Inborn genetic diseases ⚠
- p.Val28Met Single submitter Inborn genetic diseases ⚠