PHOX2A — 38 ClinVar variants
All ClinVar germline PHOX2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
2 Pathogenic · 3 Benign · 7 Likely benign · 26 Uncertain significance
Full PHOX2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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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PHOX2A p.Ala72Val
Uncertain significance
Multiple submitters
fibrosis of extraocular muscles, congenital, 2
-
PHOX2A p.Ala152Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Ala158Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Ala278Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Ala61Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Ala68Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Asn282Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Asp175Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Gln29Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Glu149Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Glu86Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Gly162Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Gly246Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Leu125Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Leu59Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Ser82Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Thr119Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Ala68Thr
Uncertain significance
No assertion criteria
PHOX2A-related disorder
Predictors split 5
The independent predictors disagree with each other — read with care.
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PHOX2A p.Arg169Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Cys49Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Leu251His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Met16Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PHOX2A p.Pro263Ser
Uncertain significance
Single submitter
Inborn genetic diseases
All PHOX2A variants
Pathogenic 2
- c.217+1G>A No assertion criteria fibrosis of extraocular muscles, congenital, 2
- c.406-1G>A No assertion criteria fibrosis of extraocular muscles, congenital, 2
Benign 3
- c.-19G>A Multiple submitters
- p.Leu52= Multiple submitters
- p.158AGA[1] Single submitter
Likely benign 7
Uncertain significance 26
- p.Ala72Val Multiple submitters fibrosis of extraocular muscles, congenital, 2 ⚠
- p.Ala152Gly Single submitter Inborn genetic diseases ⚠
- p.Ala158Glu Single submitter Inborn genetic diseases ⚠
- p.Ala278Asp Single submitter Inborn genetic diseases
- p.Ala278Val Single submitter Inborn genetic diseases ⚠
- p.Ala61Asp Single submitter Inborn genetic diseases ⚠
- p.Ala68Pro Single submitter Inborn genetic diseases ⚠
- p.Arg169Cys Single submitter Inborn genetic diseases ⚠
- p.Arg63His Single submitter Inborn genetic diseases
- p.Asn282Ser Single submitter Inborn genetic diseases ⚠
- p.Asp175Glu Single submitter Inborn genetic diseases ⚠
- p.Cys170Tyr Single submitter Inborn genetic diseases
- p.Cys49Ser Single submitter Inborn genetic diseases ⚠
- p.Gln29Leu Single submitter Inborn genetic diseases ⚠
- p.Glu149Gly Single submitter Inborn genetic diseases ⚠
- p.Glu86Gln Single submitter Inborn genetic diseases ⚠
- p.Gly162Val Single submitter Inborn genetic diseases ⚠
- p.Gly246Glu Single submitter Inborn genetic diseases ⚠
- p.Leu125Phe Single submitter Inborn genetic diseases ⚠
- p.Leu251His Single submitter Inborn genetic diseases ⚠
- p.Leu59Val Single submitter Inborn genetic diseases ⚠
- p.Met16Ile Single submitter Inborn genetic diseases ⚠
- p.Pro263Ser Single submitter Inborn genetic diseases ⚠
- p.Ser82Thr Single submitter Inborn genetic diseases ⚠
- p.Thr119Met Single submitter Inborn genetic diseases ⚠
- p.Ala68Thr No assertion criteria PHOX2A-related disorder ⚠