DNAL1 — 137 ClinVar variants
All ClinVar germline DNAL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 4 Conflicting · 22 Benign · 62 Likely benign · 39 Uncertain significance
Full DNAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 14
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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DNAL1 p.Asn67Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAL1 p.Glu27Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAL1 p.Ser157Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAL1 p.Val148Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAL1 p.Ala12Thr
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Ala12Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Asp177Gly
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Gly184Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Ile34Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Ile74Arg
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Leu88Pro
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Lys172Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Met46Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Tyr121Cys
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 14
The independent predictors disagree with each other — read with care.
-
DNAL1 p.Glu164Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNAL1 p.Ala158Ser
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Arg73Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Asp129Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Cys59Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Glu187Lys
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Glu61Gln
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Ile37Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Leu139Val
Conflicting
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Lys128Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Met114Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Thr6Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 16
-
DNAL1 p.Tyr121Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNAL1 p.Val146Met
Uncertain significance
Single submitter
Inborn genetic diseases
All DNAL1 variants
Pathogenic 5
- p.Asn150Ser Single submitter primary ciliary dyskinesia 16
- p.Asp129fs Single submitter primary ciliary dyskinesia 16
- p.Lys8fs Single submitter primary ciliary dyskinesia
- p.Trp162Ter Single submitter primary ciliary dyskinesia 16
- p.Trp99Ter Single submitter primary ciliary dyskinesia 16
Pathogenic/Likely pathogenic 1
- p.Ile74_Leu75insTer Multiple submitters primary ciliary dyskinesia
Likely pathogenic 4
- p.Glu164Ter Single submitter primary ciliary dyskinesia 16
- p.Glu51Ter Single submitter primary ciliary dyskinesia 16
- p.Leu176Pro Single submitter primary ciliary dyskinesia
- p.Phe147fs Single submitter primary ciliary dyskinesia 16
Conflicting classifications of pathogenicity 4
- c.4-15T>C Single submitter primary ciliary dyskinesia 16
- c.43-4A>G Single submitter primary ciliary dyskinesia 16
- p.Leu139Val Single submitter primary ciliary dyskinesia 16 ⚠
- p.Leu173= Single submitter primary ciliary dyskinesia 16
Benign 22
- c.153-12G>C Multiple submitters primary ciliary dyskinesia 16
- c.208+200A>G Multiple submitters
- c.264+142A>G Multiple submitters
- c.264+90A>G Multiple submitters
- c.391+66A>G Multiple submitters
- c.391+9A>G Multiple submitters primary ciliary dyskinesia 16
- c.392-47G>A Multiple submitters
- c.42+126T>C Multiple submitters
- c.42+173T>G Multiple submitters
- c.43-116G>A Multiple submitters
- c.532+11C>T Multiple submitters primary ciliary dyskinesia 16
- c.532+27A>G Multiple submitters
- c.532+98C>T Multiple submitters
- c.533-153G>C Multiple submitters
- c.*200C>G Multiple submitters
- c.*205T>C Multiple submitters
- c.152+221_152+223del Single submitter
- c.152+223del Single submitter
- c.392-312G>T Single submitter
- c.4-5del Single submitter
- c.4-81ATAC[7] Single submitter
- c.42+9A>G Single submitter primary ciliary dyskinesia 16
Likely benign 62
- c.*32T>C Multiple submitters
- p.Asn81= Multiple submitters primary ciliary dyskinesia 16
- p.Glu164= Multiple submitters Inborn genetic diseases
- p.Leu44= Multiple submitters Inborn genetic diseases
- p.Lys116= Multiple submitters primary ciliary dyskinesia 16
- p.Thr167= Multiple submitters Inborn genetic diseases
- c.152+14T>C Single submitter primary ciliary dyskinesia 16
- c.152+18C>T Single submitter primary ciliary dyskinesia 16
- c.153-20T>G Single submitter primary ciliary dyskinesia 16
- c.153-7T>C Single submitter primary ciliary dyskinesia 16
- c.208+17A>T Single submitter primary ciliary dyskinesia 16
- c.209-12_209-8del Single submitter primary ciliary dyskinesia 16
- c.209-13C>G Single submitter primary ciliary dyskinesia 16
- c.209-18G>A Single submitter primary ciliary dyskinesia 16
- c.209-20A>G Single submitter primary ciliary dyskinesia 16
- c.264+13TTA[2] Single submitter primary ciliary dyskinesia 16
- c.264+14_264+17del Single submitter primary ciliary dyskinesia 16
- c.264+25_264+29del Single submitter primary ciliary dyskinesia 16
- c.264+8_264+10del Single submitter primary ciliary dyskinesia 16
- c.265-12G>C Single submitter primary ciliary dyskinesia 16
- c.265-15T>A Single submitter primary ciliary dyskinesia 16
- c.265-17A>T Single submitter primary ciliary dyskinesia 16
- c.265-9C>T Single submitter primary ciliary dyskinesia 16
- c.3+17C>T Single submitter primary ciliary dyskinesia 16
- c.3+18C>T Single submitter primary ciliary dyskinesia 16
- c.3+8C>G Single submitter primary ciliary dyskinesia 16
- c.3+9C>A Single submitter primary ciliary dyskinesia 16
- c.3+9C>T Single submitter primary ciliary dyskinesia 16
- c.391+15G>A Single submitter primary ciliary dyskinesia 16
- c.391+16C>T Single submitter primary ciliary dyskinesia 16
- c.392-13_392-11del Single submitter primary ciliary dyskinesia 16
- c.392-19A>G Single submitter primary ciliary dyskinesia 16
- c.4-10T>G Single submitter primary ciliary dyskinesia 16
- c.4-19_4-15del Single submitter primary ciliary dyskinesia 16
- c.4-19C>T Single submitter primary ciliary dyskinesia 16
- c.4-4A>T Single submitter primary ciliary dyskinesia 16
- c.4-5T>A Single submitter
- c.42+13G>A Single submitter primary ciliary dyskinesia 16
- c.42+8C>T Single submitter primary ciliary dyskinesia 16
- c.43-9T>C Single submitter primary ciliary dyskinesia 16
- c.532+11C>G Single submitter primary ciliary dyskinesia 16
- c.532+16C>A Single submitter primary ciliary dyskinesia 16
- p.Ala166= Single submitter primary ciliary dyskinesia 16
- p.Ala2= Single submitter primary ciliary dyskinesia 16
- p.Asn161= Single submitter primary ciliary dyskinesia 16
- p.Asp185= Single submitter primary ciliary dyskinesia 16
- p.Asp93= Single submitter primary ciliary dyskinesia 16
- p.Glu154= Single submitter primary ciliary dyskinesia 16
- p.Gly110= Single submitter primary ciliary dyskinesia 16
- p.Gly78= Single submitter primary ciliary dyskinesia 16
- p.Leu117= Single submitter primary ciliary dyskinesia 16
- p.Leu142= Single submitter primary ciliary dyskinesia 16
- p.Leu30= Single submitter primary ciliary dyskinesia 16
- p.Leu55= Single submitter primary ciliary dyskinesia 16
- p.Leu69= Single submitter primary ciliary dyskinesia 16
- p.Leu85= Single submitter primary ciliary dyskinesia 16
- p.Lys107= Single submitter primary ciliary dyskinesia 16
- p.Lys135= Single submitter primary ciliary dyskinesia 16
- p.Ser157= Single submitter primary ciliary dyskinesia 16
- p.Ser43= Single submitter primary ciliary dyskinesia 16
- p.Val134= Single submitter primary ciliary dyskinesia 16
- c.4-2del No assertion criteria DNAL1-related disorder
Uncertain significance 39
- p.Asn67Ser Multiple submitters Inborn genetic diseases ⚠
- p.Glu164Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu27Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ser157Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val148Ile Multiple submitters Inborn genetic diseases ⚠
- c.264+4G>C Single submitter primary ciliary dyskinesia 16
- c.533-2A>G Single submitter primary ciliary dyskinesia 16
- c.-14T>G Single submitter
- c.*1823del Single submitter
- c.*3110_*3111dup Single submitter
- c.*334del Single submitter
- c.*6138TG[12] Single submitter
- c.*6138TG[15] Single submitter
- p.Ala12Thr Single submitter primary ciliary dyskinesia 16 ⚠
- p.Ala12Val Single submitter primary ciliary dyskinesia 16 ⚠
- p.Ala158Ser Single submitter primary ciliary dyskinesia 16 ⚠
- p.Arg73Thr Single submitter Inborn genetic diseases ⚠
- p.Asp129Asn Single submitter Inborn genetic diseases ⚠
- p.Asp177Gly Single submitter primary ciliary dyskinesia 16 ⚠
- p.Cys59Phe Single submitter Inborn genetic diseases ⚠
- p.Glu187Lys Single submitter primary ciliary dyskinesia 16 ⚠
- p.Glu61Gln Single submitter primary ciliary dyskinesia 16 ⚠
- p.Glu97del Single submitter primary ciliary dyskinesia 16
- p.Gly184Val Single submitter primary ciliary dyskinesia 16 ⚠
- p.Ile34Val Single submitter primary ciliary dyskinesia 16 ⚠
- p.Ile37Val Single submitter Inborn genetic diseases ⚠
- p.Ile74Arg Single submitter primary ciliary dyskinesia 16 ⚠
- p.Leu88Pro Single submitter primary ciliary dyskinesia 16 ⚠
- p.Lys128Glu Single submitter Inborn genetic diseases ⚠
- p.Lys168fs Single submitter primary ciliary dyskinesia 16
- p.Lys172fs Single submitter primary ciliary dyskinesia 16
- p.Lys172Ile Single submitter Inborn genetic diseases ⚠
- p.Met114Val Single submitter Inborn genetic diseases ⚠
- p.Met46Val Single submitter primary ciliary dyskinesia 16 ⚠
- p.Thr6Ala Single submitter primary ciliary dyskinesia 16 ⚠
- p.Tyr121Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr121Phe Single submitter Inborn genetic diseases ⚠
- p.Val146Met Single submitter Inborn genetic diseases ⚠
- p.Val170fs Single submitter primary ciliary dyskinesia 16