PDE6D — 69 ClinVar variants
All ClinVar germline PDE6D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
6 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 2 Benign/Likely benign · 35 Likely benign · 24 Uncertain significance
Full PDE6D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 16
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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PDE6D p.Arg23Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE6D p.Ala120Glu
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Arg23Gln
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Arg48His
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Arg61Gln
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Arg75Cys
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Asn100Asp
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Cys56Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE6D p.Glu110Lys
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Glu130Asp
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Gly14Ser
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Leu76Pro
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Met117Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE6D p.Thr102Pro
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Thr104Ile
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Val122Ile
Uncertain significance
Single submitter
Joubert syndrome 22
Predictors split 6
The independent predictors disagree with each other — read with care.
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PDE6D p.Arg75His
Uncertain significance
Multiple submitters
Joubert syndrome 22
-
PDE6D p.Asp137Asn
Benign/Likely benign
Multiple submitters
Joubert syndrome 22
-
PDE6D p.Lys52Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE6D p.Thr142Ala
Uncertain significance
Single submitter
Joubert syndrome 22
-
PDE6D p.Thr35Ala
Uncertain significance
Single submitter
Joubert syndrome 22
- PDE6D p.Val80Ile Uncertain significance Single submitter
All PDE6D variants
Pathogenic 6
- p.Arg23fs Single submitter Joubert syndrome 22
- p.Arg61Ter Single submitter Joubert syndrome 22
- p.Glu114fs Single submitter Joubert syndrome 22
- p.Ser39fs Single submitter Joubert syndrome 22
- c.140-1G>A No assertion criteria Joubert syndrome 22
- p.Lys16Ter No assertion criteria Joubert syndrome 22
Pathogenic/Likely pathogenic 1
- p.Leu123fs No assertion criteria Joubert syndrome 22
Likely pathogenic 1
- p.Cys86fs Single submitter Joubert syndrome 22
Benign/Likely benign 2
- c.371+8A>C Multiple submitters Joubert syndrome 22
- p.Asp137Asn Multiple submitters Joubert syndrome 22 ⚠
Likely benign 35
- p.Cys86= Multiple submitters Joubert syndrome 22
- p.Ser67= Multiple submitters Joubert syndrome 22
- c.139+14C>G Single submitter Joubert syndrome 22
- c.139+19T>C Single submitter Joubert syndrome 22
- c.139+20C>G Single submitter Joubert syndrome 22
- c.140-10_140-6dup Single submitter Joubert syndrome 22
- c.140-15T>C Single submitter Joubert syndrome 22
- c.140-19T>C Single submitter Joubert syndrome 22
- c.140-3C>T Single submitter Joubert syndrome 22
- c.371+13G>T Single submitter Joubert syndrome 22
- c.372-7C>A Single submitter Joubert syndrome 22
- c.50+11G>C Single submitter Joubert syndrome 22
- c.50+16C>A Single submitter Joubert syndrome 22
- c.50+18G>A Single submitter Joubert syndrome 22
- c.50+7G>T Single submitter Joubert syndrome 22
- c.51-12A>G Single submitter Joubert syndrome 22
- c.51-19del Single submitter Joubert syndrome 22
- p.Ala111= Single submitter
- p.Ala58= Single submitter Joubert syndrome 22
- p.Arg13= Single submitter Joubert syndrome 22
- p.Arg23= Single submitter Joubert syndrome 22
- p.Arg61= Single submitter Joubert syndrome 22
- p.Arg75= Single submitter Joubert syndrome 22
- p.Asp135= Single submitter Joubert syndrome 22
- p.Asp136= Single submitter Joubert syndrome 22
- p.Asp136Asn Single submitter Joubert syndrome 22
- p.Gly42= Single submitter Joubert syndrome 22
- p.Phe134= Single submitter
- p.Phe74= Single submitter Joubert syndrome 22
- p.Pro113= Single submitter Joubert syndrome 22
- p.Ser115= Single submitter Joubert syndrome 22
- p.Ser121= Single submitter Joubert syndrome 22
- p.Ser2= Single submitter Joubert syndrome 22
- p.Ser39= Single submitter Joubert syndrome 22
- p.Val59= Single submitter Joubert syndrome 22
Uncertain significance 24
- p.Arg23Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg75His Multiple submitters Joubert syndrome 22 ⚠
- c.266-3C>T Single submitter Joubert syndrome 22
- c.50+6C>G Single submitter Joubert syndrome 22
- p.Ala120Glu Single submitter Joubert syndrome 22 ⚠
- p.Arg23Gln Single submitter Joubert syndrome 22 ⚠
- p.Arg48His Single submitter Joubert syndrome 22 ⚠
- p.Arg61Gln Single submitter Joubert syndrome 22 ⚠
- p.Arg75Cys Single submitter Joubert syndrome 22 ⚠
- p.Asn100Asp Single submitter Joubert syndrome 22 ⚠
- p.Cys56Tyr Single submitter Inborn genetic diseases ⚠
- p.Glu110Lys Single submitter Joubert syndrome 22 ⚠
- p.Glu130Asp Single submitter Joubert syndrome 22 ⚠
- p.Gly14Ser Single submitter Joubert syndrome 22 ⚠
- p.Leu17= Single submitter Joubert syndrome 22
- p.Leu76Pro Single submitter Joubert syndrome 22 ⚠
- p.Lys52Glu Single submitter Inborn genetic diseases ⚠
- p.Met117Val Single submitter Inborn genetic diseases ⚠
- p.Thr102Pro Single submitter Joubert syndrome 22 ⚠
- p.Thr104Ile Single submitter Joubert syndrome 22 ⚠
- p.Thr142Ala Single submitter Joubert syndrome 22 ⚠
- p.Thr35Ala Single submitter Joubert syndrome 22 ⚠
- p.Val122Ile Single submitter Joubert syndrome 22 ⚠
- p.Val80Ile Single submitter ⚠