DPYSL5 — 130 ClinVar variants
All ClinVar germline DPYSL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
1 Pathogenic · 1 Conflicting · 2 Benign · 1 Benign/Likely benign · 21 Likely benign · 104 Uncertain significance
Full DPYSL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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.
-
DPYSL5 p.Glu25Lys
Conflicting
Single submitter
Ritscher-Schinzel syndrome 4
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DPYSL5 p.Ala236Glu
Uncertain significance
Multiple submitters
DPYSL5-related disorder
- DPYSL5 p.Ala202Val Uncertain significance Single submitter
- DPYSL5 p.Ala89Pro Uncertain significance Single submitter
-
DPYSL5 p.Arg231Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Arg231His
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
- DPYSL5 p.Arg517Trp Uncertain significance Single submitter
-
DPYSL5 p.Asn237Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Asp104Glu Uncertain significance Single submitter
-
DPYSL5 p.Asp111Ala
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Asp399Val
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Cys116Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Glu217Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Glu31Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Glu506Gln Uncertain significance Single submitter
-
DPYSL5 p.Gly201Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Gly209Arg
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
- DPYSL5 p.Gly494Arg Uncertain significance Single submitter
- DPYSL5 p.Gly557Arg Uncertain significance Single submitter
-
DPYSL5 p.Gly558Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.His501Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Ile10Asn Uncertain significance Single submitter
- DPYSL5 p.Ile210Phe Uncertain significance Single submitter
-
DPYSL5 p.Ile218Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Leu482Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Lys115Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Lys265Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Met159Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Met43Lys Uncertain significance Single submitter
- DPYSL5 p.Met96Ile Uncertain significance Single submitter
-
DPYSL5 p.Phe160Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Pro213Ser Uncertain significance Single submitter
-
DPYSL5 p.Pro242Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Pro328Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Pro45Ser
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Ser108Phe
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
- DPYSL5 p.Ser312Arg Uncertain significance Single submitter
-
DPYSL5 p.Thr239Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Thr273Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Thr458Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Thr490Ser Uncertain significance Single submitter
-
DPYSL5 p.Val149Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Val266Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Val484Ile Uncertain significance Single submitter
- DPYSL5 p.Val50Leu Uncertain significance Single submitter
-
DPYSL5 p.Val58Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Val8Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Arg393His
Uncertain significance
No assertion criteria
DPYSL5-related disorder
-
DPYSL5 p.Ile540Val
Uncertain significance
No assertion criteria
DPYSL5-related disorder
-
DPYSL5 p.Thr304Ser
Uncertain significance
No assertion criteria
DPYSL5-related disorder
Predictors split 47
The independent predictors disagree with each other — read with care.
-
DPYSL5 p.Ala375Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPYSL5 p.Glu41Lys
Pathogenic
Multiple submitters
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Lys123Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPYSL5 p.Val132Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DPYSL5 p.Val357Ile
Uncertain significance
Multiple submitters
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Ala112Thr
Likely benign
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Ala112Val
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Ala129Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Ala53Gly
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Arg372Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Arg390Cys Likely benign Single submitter
-
DPYSL5 p.Arg393Cys
Likely benign
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Arg442Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Arg485Gly
Likely benign
Single submitter
Inborn genetic diseases
- DPYSL5 p.Arg517Pro Uncertain significance Single submitter
-
DPYSL5 p.Arg551Gln
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Asn380Ser
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Asp104Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Asp121Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Asp165Tyr
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Asp20Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Asp325Gly Uncertain significance Single submitter
-
DPYSL5 p.Gln176Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Gln176Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Gly153Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Gly450Ser Uncertain significance Single submitter
-
DPYSL5 p.Gly47Arg
Uncertain significance
Single submitter
Dandy-Walker syndrome
-
DPYSL5 p.Gly486Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Lys480Asn Uncertain significance Single submitter
- DPYSL5 p.Met145Leu Uncertain significance Single submitter
-
DPYSL5 p.Met430Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Phe424Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Pro122Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Pro463Leu Uncertain significance Single submitter
- DPYSL5 p.Ser219Gly Uncertain significance Single submitter
-
DPYSL5 p.Ser252Leu
Likely benign
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Thr239Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Thr296Met Likely benign Single submitter
-
DPYSL5 p.Thr377Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DPYSL5 p.Thr77Met Uncertain significance Single submitter
-
DPYSL5 p.Tyr427Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Val101Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Val132Ala
Uncertain significance
Single submitter
Ritscher-Schinzel syndrome 4
-
DPYSL5 p.Val499Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Val91Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DPYSL5 p.Arg40Gly
Uncertain significance
No assertion criteria
DPYSL5-related disorder
-
DPYSL5 p.Ile218Phe
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All DPYSL5 variants
Pathogenic 1
- p.Glu41Lys Multiple submitters Ritscher-Schinzel syndrome 4 ⚠
Conflicting classifications of pathogenicity 1
- p.Glu25Lys Single submitter Ritscher-Schinzel syndrome 4 ⚠
Benign 2
- c.947+8G>A Multiple submitters
- p.Arg9= Single submitter
Benign/Likely benign 1
- p.Gly212= Multiple submitters
Likely benign 21
- c.600+2C>T Single submitter autism spectrum disorder
- p.Ala112Thr Single submitter Inborn genetic diseases ⚠
- p.Ala180Thr Single submitter Inborn genetic diseases
- p.Ala199= Single submitter
- p.Ala269= Single submitter
- p.Ala409= Single submitter
- p.Arg390Cys Single submitter ⚠
- p.Arg393Cys Single submitter Inborn genetic diseases ⚠
- p.Arg485Gly Single submitter Inborn genetic diseases ⚠
- p.Arg551= Single submitter
- p.Ile216Leu Single submitter
- p.Ile321Val Single submitter Inborn genetic diseases
- p.Pro518= Single submitter
- p.Ser156= Single submitter
- p.Ser252Leu Single submitter Inborn genetic diseases ⚠
- p.Thr296Met Single submitter ⚠
- p.Thr77= Single submitter
- p.Tyr128= Single submitter
- p.Val190Ile Single submitter Inborn genetic diseases
- p.Val519Ala Single submitter Inborn genetic diseases
- p.Ile218Phe No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 104
- c.-1C>T Multiple submitters
- p.Ala236Glu Multiple submitters DPYSL5-related disorder ⚠
- p.Ala375Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys123Arg Multiple submitters Inborn genetic diseases ⚠
- p.Val132Met Multiple submitters Inborn genetic diseases ⚠
- p.Val357Ile Multiple submitters Ritscher-Schinzel syndrome 4 ⚠
- c.1089+1G>T Single submitter
- c.1440+2T>A Single submitter
- c.947+3A>G Single submitter
- c.-122G>T Single submitter Ritscher-Schinzel syndrome 4
- p.Ala112Val Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Ala129Thr Single submitter Inborn genetic diseases ⚠
- p.Ala202Val Single submitter ⚠
- p.Ala53Gly Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Ala89Pro Single submitter ⚠
- p.Arg117Ter Single submitter
- p.Arg231Cys Single submitter Inborn genetic diseases ⚠
- p.Arg231His Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Arg301_Leu302del Single submitter
- p.Arg372Cys Single submitter Inborn genetic diseases ⚠
- p.Arg442Trp Single submitter Inborn genetic diseases ⚠
- p.Arg517Pro Single submitter ⚠
- p.Arg517Trp Single submitter ⚠
- p.Arg551Gln Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Asn237Lys Single submitter Inborn genetic diseases ⚠
- p.Asn380Ser Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Asp104Asn Single submitter Inborn genetic diseases ⚠
- p.Asp104Glu Single submitter ⚠
- p.Asp111Ala Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Asp121Asn Single submitter Inborn genetic diseases ⚠
- p.Asp165Tyr Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Asp20Asn Single submitter Inborn genetic diseases ⚠
- p.Asp325Gly Single submitter ⚠
- p.Asp399Val Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Asp495fs Single submitter
- p.Cys116Ser Single submitter Inborn genetic diseases ⚠
- p.Gln176Arg Single submitter Inborn genetic diseases ⚠
- p.Gln176Pro Single submitter Inborn genetic diseases ⚠
- p.Glu217Lys Single submitter Inborn genetic diseases ⚠
- p.Glu31Lys Single submitter Inborn genetic diseases ⚠
- p.Glu506Gln Single submitter ⚠
- p.Gly153fs Single submitter
- p.Gly153Ser Single submitter Inborn genetic diseases ⚠
- p.Gly201Ser Single submitter Inborn genetic diseases ⚠
- p.Gly209Arg Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Gly450Ser Single submitter ⚠
- p.Gly47Arg Single submitter Dandy-Walker syndrome ⚠
- p.Gly486Arg Single submitter Inborn genetic diseases ⚠
- p.Gly494Arg Single submitter ⚠
- p.Gly557Arg Single submitter ⚠
- p.Gly558Asp Single submitter Inborn genetic diseases ⚠
- p.His501Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile10Asn Single submitter ⚠
- p.Ile210Phe Single submitter ⚠
- p.Ile218Val Single submitter Inborn genetic diseases ⚠
- p.Ile321fs Single submitter
- p.Leu281Ter Single submitter
- p.Leu482Ser Single submitter Inborn genetic diseases ⚠
- p.Leu57= Single submitter
- p.Lys115Arg Single submitter Inborn genetic diseases ⚠
- p.Lys123fs Single submitter
- p.Lys265Gln Single submitter Inborn genetic diseases ⚠
- p.Lys480Asn Single submitter ⚠
- p.Met145Leu Single submitter ⚠
- p.Met159Val Single submitter Inborn genetic diseases ⚠
- p.Met430Ile Single submitter Inborn genetic diseases ⚠
- p.Met43Lys Single submitter ⚠
- p.Met96Ile Single submitter ⚠
- p.Phe160Cys Single submitter Inborn genetic diseases ⚠
- p.Phe424Ile Single submitter Inborn genetic diseases ⚠
- p.Pro122Arg Single submitter Inborn genetic diseases ⚠
- p.Pro213Ser Single submitter ⚠
- p.Pro242Ala Single submitter Inborn genetic diseases ⚠
- p.Pro328Thr Single submitter Inborn genetic diseases ⚠
- p.Pro45Ser Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Pro463Leu Single submitter ⚠
- p.Ser108Phe Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Ser219Gly Single submitter ⚠
- p.Ser312Arg Single submitter ⚠
- p.Ser560Ter Single submitter
- p.Thr239Ala Single submitter Inborn genetic diseases ⚠
- p.Thr239Ile Single submitter Inborn genetic diseases ⚠
- p.Thr273Ser Single submitter Inborn genetic diseases ⚠
- p.Thr377Ala Single submitter Inborn genetic diseases ⚠
- p.Thr458Ser Single submitter Inborn genetic diseases ⚠
- p.Thr490Ser Single submitter ⚠
- p.Thr77Met Single submitter ⚠
- p.Trp288Ter Single submitter
- p.Tyr427Cys Single submitter Inborn genetic diseases ⚠
- p.Val101Ile Single submitter Inborn genetic diseases ⚠
- p.Val132Ala Single submitter Ritscher-Schinzel syndrome 4 ⚠
- p.Val149Met Single submitter Inborn genetic diseases ⚠
- p.Val266Ala Single submitter Inborn genetic diseases ⚠
- p.Val484Ile Single submitter ⚠
- p.Val499Phe Single submitter Inborn genetic diseases ⚠
- p.Val50Leu Single submitter ⚠
- p.Val58Met Single submitter Inborn genetic diseases ⚠
- p.Val8Met Single submitter Inborn genetic diseases ⚠
- p.Val91Ile Single submitter Inborn genetic diseases ⚠
- p.Arg393His No assertion criteria DPYSL5-related disorder ⚠
- p.Arg40Gly No assertion criteria DPYSL5-related disorder ⚠
- p.Glu196fs No assertion criteria DPYSL5-related disorder
- p.Ile540Val No assertion criteria DPYSL5-related disorder ⚠
- p.Thr304Ser No assertion criteria DPYSL5-related disorder ⚠