PCBD1 — 122 ClinVar variants
All ClinVar germline PCBD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 20 flagged for review →
5 Pathogenic · 3 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 3 Conflicting · 10 Benign · 2 Benign/Likely benign · 65 Likely benign · 26 Uncertain significance
Full PCBD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 20
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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PCBD1 p.Arg13Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCBD1 p.Arg31Cys
Uncertain significance
Multiple submitters
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Arg88Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCBD1 p.Asp61Tyr
Uncertain significance
Multiple submitters
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Gln15His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCBD1 p.Leu60Pro
Uncertain significance
Multiple submitters
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Val69Met
Uncertain significance
Multiple submitters
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Ala2Asp
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Ala2Val
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Ala5Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCBD1 p.Asn19Asp
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- PCBD1 p.Glu58Lys Uncertain significance Single submitter
-
PCBD1 p.Gly84Cys
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Ile96Val
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Met103Val
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Phe49Cys
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Ser94Ile
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
-
PCBD1 p.Thr79Ile
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Predictors split 2
The independent predictors disagree with each other — read with care.
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PCBD1 p.Arg88Gln
Likely benign
Multiple submitters
Inborn genetic diseases
-
PCBD1 p.Ala100Val
Uncertain significance
Single submitter
pterin-4 alpha-carbinolamine dehydratase 1 deficiency
All PCBD1 variants
Pathogenic 5
- p.Asn68Ter Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Asn91fs Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Gln37fs Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Leu16fs Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Lys36fs Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Pathogenic/Likely pathogenic 3
- p.Gln98Ter Multiple submitters PCBD1-related disorders
- p.Glu87Ter Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Glu97Lys Multiple submitters PCBD1-related disorders
Likely pathogenic 8
- p.Leu85fs Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-2A>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ala22fs Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Arg52fs Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Cys82Arg Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Gln56Ter Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.His39fs Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Met1Val Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Conflicting classifications of pathogenicity 3
- p.Asn68= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Gln98= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ter105Gln Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Benign 10
- c.3+202T>C Multiple submitters
- c.3+204G>A Multiple submitters
- c.3+205A>C Multiple submitters
- c.*36G>A Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.136-211A>G Single submitter
- c.136-262C>T Single submitter
- c.4-12del Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-12dup Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-140T>C Single submitter
- c.4-280C>T Single submitter
Benign/Likely benign 2
- c.3+154T>C Multiple submitters
- c.*253T>A Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Likely benign 65
- p.Arg88Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn19= Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ser9= Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Thr76= Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.135+12G>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.135+16G>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.135+7C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.136-11C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.136-12C>G Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.136-16C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.136-18C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.136-25C>G Single submitter
- c.216+11C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.216+13G>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.216+15G>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.216+15G>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.216+17G>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.216+181dup Single submitter
- c.216+18C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.217-11T>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.217-12G>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.217-12G>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.217-16T>G Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.217-7T>C Single submitter
- c.3+13G>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.3+14T>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.3+318G>A Single submitter
- c.3+9A>G Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-11C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-12T>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-18T>G Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-19_4-18del Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-19G>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-21_4-20del Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-4C>G Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-6T>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.4-7C>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.*114G>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.*9G>A Single submitter
- p.Ala100= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ala22= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ala54= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ala83= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Arg13= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Arg21= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Arg88= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Asp42= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Cys82= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Gln15= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Gln37= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Gly24= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Gly84= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.His63= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.His74= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.His80= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ile34= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ile90= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ile96= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Leu16= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Leu20= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Leu55= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Leu8= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Lys4= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Phe47= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Val73= Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Uncertain significance 26
- p.Arg13Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg31Cys Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Arg88Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asp61Tyr Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Gln15His Multiple submitters Inborn genetic diseases ⚠
- p.Leu60Pro Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Val69Met Multiple submitters pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- c.136-5A>G Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.-15G>C Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.*107C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.*116C>T Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- c.*29G>A Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Ala100Val Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Ala2Asp Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Ala2Val Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Ala5Thr Single submitter Inborn genetic diseases ⚠
- p.Arg31_Ile34del Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Asn19Asp Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Glu58Lys Single submitter ⚠
- p.Gly84Cys Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Ile96Val Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Met103Lys Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency
- p.Met103Val Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Phe49Cys Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Ser94Ile Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠
- p.Thr79Ile Single submitter pterin-4 alpha-carbinolamine dehydratase 1 deficiency ⚠