PDYN — 213 ClinVar variants
All ClinVar germline PDYN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 16 Conflicting · 24 Benign · 5 Benign/Likely benign · 31 Likely benign · 135 Uncertain significance
Full PDYN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 102
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PDYN p.Ala164Thr
Conflicting
Single submitter
Inborn genetic diseases
-
PDYN p.Arg138Ser
Conflicting
Single submitter
spinocerebellar ataxia type 23
-
PDYN p.Arg174Cys
Conflicting
Single submitter
spinocerebellar ataxia type 23
-
PDYN p.Arg212Gln
Conflicting
Single submitter
spinocerebellar ataxia type 23
-
PDYN p.Arg25Trp
Conflicting
Single submitter
Inborn genetic diseases
-
PDYN p.Asp153Asn
Conflicting
Single submitter
Inborn genetic diseases
- PDYN p.Gly159Asp Conflicting Single submitter
-
PDYN p.Gly90Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PDYN p.Pro91Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 80
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PDYN p.Ala190Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Ala20Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Arg180Cys
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 23
-
PDYN p.Arg180Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Arg206Cys
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 23
-
PDYN p.Arg231Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Cys45Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDYN p.Glu107Asp Uncertain significance Multiple submitters
- PDYN p.Gly176Glu Uncertain significance Multiple submitters
-
PDYN p.Gly191Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDYN p.Gly195Arg Uncertain significance Multiple submitters
-
PDYN p.Gly199Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDYN p.Gly209Asp Uncertain significance Multiple submitters
-
PDYN p.Leu122Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Lys118Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDYN p.Lys217Arg Uncertain significance Multiple submitters
- PDYN p.Met146Lys Uncertain significance Multiple submitters
- PDYN p.Ser24Leu Uncertain significance Multiple submitters
- PDYN p.Ser27Phe Uncertain significance Multiple submitters
-
PDYN p.Ser46Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Ser86Leu
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 23
-
PDYN p.Thr70Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Val189Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDYN p.Ala141Val Uncertain significance Single submitter
- PDYN p.Ala30Thr Uncertain significance Single submitter
-
PDYN p.Ala52Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Ala52Thr Uncertain significance Single submitter
- PDYN p.Ala9Ser Uncertain significance Single submitter
- PDYN p.Arg180His Uncertain significance Single submitter
- PDYN p.Arg213Cys Uncertain significance Single submitter
- PDYN p.Arg225His Uncertain significance Single submitter
-
PDYN p.Arg231Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Arg25Gln Uncertain significance Single submitter
- PDYN p.Asp135Glu Uncertain significance Single submitter
- PDYN p.Asp148Glu Uncertain significance Single submitter
-
PDYN p.Asp194Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Asp243Asn Uncertain significance Single submitter
-
PDYN p.Asp243Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Asp35Gly Uncertain significance Single submitter
- PDYN p.Cys22Tyr Uncertain significance Single submitter
-
PDYN p.Cys29Phe
Uncertain significance
Single submitter
spinocerebellar ataxia type 23
- PDYN p.Cys49Tyr Uncertain significance Single submitter
- PDYN p.Gln50Arg Uncertain significance Single submitter
-
PDYN p.Glu105Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Glu127Gly Uncertain significance Single submitter
- PDYN p.Glu144Gln Uncertain significance Single submitter
-
PDYN p.Glu170Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Gly132Val Uncertain significance Single submitter
- PDYN p.Gly136Arg Uncertain significance Single submitter
- PDYN p.Gly177Asp Uncertain significance Single submitter
-
PDYN p.Gly177Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Gly193Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Gly195Glu Uncertain significance Single submitter
- PDYN p.Gly208Glu Uncertain significance Single submitter
- PDYN p.Gly249Glu Uncertain significance Single submitter
-
PDYN p.Leu211Ser
Uncertain significance
Single submitter
spinocerebellar ataxia type 23
- PDYN p.Leu23Arg Uncertain significance Single submitter
-
PDYN p.Leu23Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Leu74Val Uncertain significance Single submitter
-
PDYN p.Leu98Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Leu98Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Lys108Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Lys129Gln Uncertain significance Single submitter
- PDYN p.Met14Lys Uncertain significance Single submitter
- PDYN p.Met14Thr Uncertain significance Single submitter
- PDYN p.Met198Leu Uncertain significance Single submitter
-
PDYN p.Phe102Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Phe210Leu
Uncertain significance
Single submitter
spinocerebellar ataxia type 23
- PDYN p.Pro113Arg Uncertain significance Single submitter
-
PDYN p.Pro168His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Ser186Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Ser84Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Thr18Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Thr70Ile Uncertain significance Single submitter
-
PDYN p.Trp59Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Tyr92Cys Uncertain significance Single submitter
- PDYN p.Val189Gly Uncertain significance Single submitter
- PDYN p.Val189Met Uncertain significance Single submitter
-
PDYN p.Val31Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Thr73Ala
Uncertain significance
No assertion criteria
spinocerebellar ataxia type 23
Predictors split 13
The independent predictors disagree with each other — read with care.
-
PDYN p.Glu242Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDYN p.Pro244Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDYN p.Arg215His Uncertain significance Single submitter
- PDYN p.Arg232His Uncertain significance Single submitter
- PDYN p.Gly132Cys Uncertain significance Single submitter
- PDYN p.Leu218Pro Uncertain significance Single submitter
- PDYN p.Leu6Pro Uncertain significance Single submitter
- PDYN p.Pro183Thr Uncertain significance Single submitter
-
PDYN p.Pro216Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Ser240Thr
Uncertain significance
Single submitter
spinocerebellar ataxia type 23
-
PDYN p.Thr33Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDYN p.Trp220Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PDYN p.Val236Met Uncertain significance Single submitter
All PDYN variants
Pathogenic 1
- p.Arg215Cys No assertion criteria spinocerebellar ataxia type 23
Likely pathogenic 1
- p.Arg212Trp Single submitter spinocerebellar ataxia type 23
Conflicting classifications of pathogenicity 16
- c.*1071G>A Single submitter spinocerebellar ataxia type 23
- c.*231C>G Single submitter spinocerebellar ataxia type 23
- c.*760G>C Single submitter spinocerebellar ataxia type 23
- p.Ala164Thr Single submitter Inborn genetic diseases ⚠
- p.Arg138Ser Single submitter spinocerebellar ataxia type 23 ⚠
- p.Arg174Cys Single submitter spinocerebellar ataxia type 23 ⚠
- p.Arg212Gln Single submitter spinocerebellar ataxia type 23 ⚠
- p.Arg231= Single submitter spinocerebellar ataxia type 23
- p.Arg239Gln Single submitter Inborn genetic diseases
- p.Arg25Trp Single submitter Inborn genetic diseases ⚠
- p.Asp153Asn Single submitter Inborn genetic diseases ⚠
- p.Asp194= Single submitter spinocerebellar ataxia type 23
- p.Gly159Asp Single submitter ⚠
- p.Gly90Arg Single submitter Inborn genetic diseases ⚠
- p.Pro91Ser Single submitter Inborn genetic diseases ⚠
- p.Trp220fs Single submitter spinocerebellar ataxia type 23
Benign 24
- c.*1030C>T Multiple submitters spinocerebellar ataxia type 23
- c.*138A>G Multiple submitters spinocerebellar ataxia type 23
- c.*1443G>A Multiple submitters spinocerebellar ataxia type 23
- c.*356T>C Multiple submitters spinocerebellar ataxia type 23
- c.*656T>C Multiple submitters spinocerebellar ataxia type 23
- c.*743T>C Multiple submitters spinocerebellar ataxia type 23
- c.*771T>C Multiple submitters spinocerebellar ataxia type 23
- p.His200= Multiple submitters spinocerebellar ataxia type 23
- p.Leu23= Multiple submitters
- p.Met14Val Multiple submitters
- c.129+189C>T Single submitter
- c.130-171G>A Single submitter
- c.-19-246T>C Single submitter
- c.*1029A>G Single submitter spinocerebellar ataxia type 23
- c.*1394C>A Single submitter spinocerebellar ataxia type 23
- c.*1396C>T Single submitter spinocerebellar ataxia type 23
- c.*1457C>G Single submitter spinocerebellar ataxia type 23
- c.*225T>C Single submitter spinocerebellar ataxia type 23
- c.*369A>G Single submitter spinocerebellar ataxia type 23
- c.*556C>T Single submitter spinocerebellar ataxia type 23
- c.*78A>G Single submitter spinocerebellar ataxia type 23
- c.*836C>G Single submitter spinocerebellar ataxia type 23
- p.Pro244= Single submitter
- p.Ser24= Single submitter
Benign/Likely benign 5
- p.Asn41Asp Multiple submitters
- p.Glu192Val Multiple submitters spinocerebellar ataxia type 23
- p.Gly36Cys Multiple submitters spinocerebellar ataxia type 23
- p.Met146Leu Multiple submitters spinocerebellar ataxia type 23
- p.Thr238Ala Multiple submitters
Likely benign 31
- p.Asn152= Multiple submitters spinocerebellar ataxia type 23
- p.Asp135= Multiple submitters spinocerebellar ataxia type 23
- p.Leu161= Multiple submitters spinocerebellar ataxia type 23
- p.Leu54= Multiple submitters
- p.Leu66= Multiple submitters
- p.Pro16= Multiple submitters
- p.Ser187= Multiple submitters
- c.129+8T>C Single submitter
- c.*33A>C Single submitter spinocerebellar ataxia type 23
- p.Arg131= Single submitter
- p.Arg206= Single submitter
- p.Asp148= Single submitter
- p.Asp153= Single submitter
- p.Asp243= Single submitter
- p.Gly100= Single submitter
- p.Gly176= Single submitter
- p.Ile40= Single submitter
- p.Leu126= Single submitter
- p.Leu163= Single submitter
- p.Leu203= Single submitter
- p.Leu98= Single submitter
- p.Lys184= Single submitter
- p.Phe15Leu Single submitter Inborn genetic diseases
- p.Ser114= Single submitter
- p.Ser46= Single submitter
- p.Ser64= Single submitter
- p.Thr117Ala Single submitter Inborn genetic diseases
- p.Thr70= Single submitter
- p.Thr73= Single submitter
- p.Tyr204= Single submitter
- p.Val236= Single submitter
Uncertain significance 135
- c.*103C>T Multiple submitters spinocerebellar ataxia type 23
- c.*346G>A Multiple submitters spinocerebellar ataxia type 23
- p.Ala190Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala20Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg180Cys Multiple submitters spinocerebellar ataxia type 23 ⚠
- p.Arg180Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg206Cys Multiple submitters spinocerebellar ataxia type 23 ⚠
- p.Arg231Trp Multiple submitters Inborn genetic diseases ⚠
- p.Cys45Trp Multiple submitters Inborn genetic diseases ⚠
- p.Glu107Asp Multiple submitters ⚠
- p.Glu242Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly176Glu Multiple submitters ⚠
- p.Gly191Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly195Arg Multiple submitters ⚠
- p.Gly199Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly209Asp Multiple submitters ⚠
- p.Leu122Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu12fs Multiple submitters
- p.Lys118Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys217Arg Multiple submitters ⚠
- p.Met146Lys Multiple submitters ⚠
- p.Pro244Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser24Leu Multiple submitters ⚠
- p.Ser27Phe Multiple submitters ⚠
- p.Ser46Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser86Leu Multiple submitters spinocerebellar ataxia type 23 ⚠
- p.Thr70Asn Multiple submitters Inborn genetic diseases ⚠
- p.Val189Ala Multiple submitters Inborn genetic diseases ⚠
- c.129+1G>A Single submitter
- c.129+3A>G Single submitter
- c.-11G>A Single submitter
- c.-162A>G Single submitter spinocerebellar ataxia type 23
- c.-19-1G>C Single submitter
- c.-19-9C>T Single submitter
- c.-42A>T Single submitter spinocerebellar ataxia type 23
- c.-43G>A Single submitter spinocerebellar ataxia type 23
- c.*1065C>T Single submitter spinocerebellar ataxia type 23
- c.*1157T>G Single submitter spinocerebellar ataxia type 23
- c.*1274T>G Single submitter spinocerebellar ataxia type 23
- c.*1336G>C Single submitter spinocerebellar ataxia type 23
- c.*1394C>T Single submitter spinocerebellar ataxia type 23
- c.*1532C>T Single submitter spinocerebellar ataxia type 23
- c.*261C>T Single submitter spinocerebellar ataxia type 23
- c.*320C>T Single submitter spinocerebellar ataxia type 23
- c.*389A>T Single submitter spinocerebellar ataxia type 23
- c.*522C>T Single submitter spinocerebellar ataxia type 23
- c.*556C>A Single submitter spinocerebellar ataxia type 23
- c.*561C>T Single submitter spinocerebellar ataxia type 23
- c.*636G>C Single submitter spinocerebellar ataxia type 23
- c.*65C>G Single submitter spinocerebellar ataxia type 23
- c.*670A>T Single submitter spinocerebellar ataxia type 23
- c.*671T>C Single submitter spinocerebellar ataxia type 23
- c.*827A>G Single submitter spinocerebellar ataxia type 23
- c.*847T>C Single submitter spinocerebellar ataxia type 23
- c.*872C>A Single submitter spinocerebellar ataxia type 23
- p.Ala141Val Single submitter ⚠
- p.Ala30Thr Single submitter ⚠
- p.Ala52Asp Single submitter Inborn genetic diseases ⚠
- p.Ala52Thr Single submitter ⚠
- p.Ala9Ser Single submitter ⚠
- p.Arg180His Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg225His Single submitter ⚠
- p.Arg231Gln Single submitter Inborn genetic diseases ⚠
- p.Arg232His Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Asp135Glu Single submitter ⚠
- p.Asp148Glu Single submitter ⚠
- p.Asp167= Single submitter spinocerebellar ataxia type 23
- p.Asp194Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp243Asn Single submitter ⚠
- p.Asp243Val Single submitter Inborn genetic diseases ⚠
- p.Asp35Gly Single submitter ⚠
- p.Cys22Tyr Single submitter ⚠
- p.Cys29Phe Single submitter spinocerebellar ataxia type 23 ⚠
- p.Cys49Tyr Single submitter ⚠
- p.Gln241His Single submitter Inborn genetic diseases
- p.Gln50Arg Single submitter ⚠
- p.Glu105Gly Single submitter Inborn genetic diseases ⚠
- p.Glu127Gly Single submitter ⚠
- p.Glu144Gln Single submitter ⚠
- p.Glu170Val Single submitter Inborn genetic diseases ⚠
- p.Gly132Cys Single submitter ⚠
- p.Gly132Val Single submitter ⚠
- p.Gly136Arg Single submitter ⚠
- p.Gly176_Gly177insArgTyrGly Single submitter
- p.Gly177Asp Single submitter ⚠
- p.Gly177Ser Single submitter Inborn genetic diseases ⚠
- p.Gly193Ala Single submitter Inborn genetic diseases ⚠
- p.Gly195Glu Single submitter ⚠
- p.Gly208Glu Single submitter ⚠
- p.Gly249Glu Single submitter ⚠
- p.Leu211Ser Single submitter spinocerebellar ataxia type 23 ⚠
- p.Leu218Pro Single submitter ⚠
- p.Leu23Arg Single submitter ⚠
- p.Leu23Val Single submitter Inborn genetic diseases ⚠
- p.Leu251fs Single submitter
- p.Leu6Pro Single submitter ⚠
- p.Leu74Val Single submitter ⚠
- p.Leu82= Single submitter spinocerebellar ataxia type 23
- p.Leu98Phe Single submitter Inborn genetic diseases ⚠
- p.Leu98Pro Single submitter Inborn genetic diseases ⚠
- p.Lys108Arg Single submitter Inborn genetic diseases ⚠
- p.Lys129Gln Single submitter ⚠
- p.Met14Lys Single submitter ⚠
- p.Met14Thr Single submitter ⚠
- p.Met198Leu Single submitter ⚠
- p.Met1Thr Single submitter
- p.Phe102Leu Single submitter Inborn genetic diseases ⚠
- p.Phe210Leu Single submitter spinocerebellar ataxia type 23 ⚠
- p.Pro113Arg Single submitter ⚠
- p.Pro168His Single submitter Inborn genetic diseases ⚠
- p.Pro183Thr Single submitter ⚠
- p.Pro216Ser Single submitter Inborn genetic diseases ⚠
- p.Ser116Ter Single submitter
- p.Ser186Thr Single submitter Inborn genetic diseases ⚠
- p.Ser240fs Single submitter
- p.Ser240Thr Single submitter spinocerebellar ataxia type 23 ⚠
- p.Ser27Cys Single submitter
- p.Ser84Gly Single submitter Inborn genetic diseases ⚠
- p.Thr18Ile Single submitter Inborn genetic diseases ⚠
- p.Thr33Ile Single submitter Inborn genetic diseases ⚠
- p.Thr70Ile Single submitter ⚠
- p.Trp220Cys Single submitter Inborn genetic diseases ⚠
- p.Trp220Ter Single submitter
- p.Trp59Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr162Ter Single submitter
- p.Tyr92Cys Single submitter ⚠
- p.Val189Gly Single submitter ⚠
- p.Val189Met Single submitter ⚠
- p.Val236Met Single submitter ⚠
- p.Val31Ile Single submitter Inborn genetic diseases ⚠
- c.-80+226T>C No assertion criteria
- p.Thr73Ala No assertion criteria spinocerebellar ataxia type 23 ⚠