GAS8 — 45 ClinVar variants
All ClinVar germline GAS8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 8 Benign · 5 Likely benign · 30 Uncertain significance
Full GAS8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GAS8 p.Ala187Thr
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
GAS8 p.Val338Leu
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
GAS8 p.Arg313Cys
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Arg37His
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Arg39Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GAS8 p.Arg67Gln Uncertain significance Single submitter
-
GAS8 p.Asp232Asn
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Asp263Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAS8 p.Asp303Glu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Asp81Ala
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Gln384Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAS8 p.Leu154Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Lys80Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAS8 p.Met195Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAS8 p.Met26Leu
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Met26Val
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Pro477Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- GAS8 p.Pro477Leu Uncertain significance Single submitter
-
GAS8 p.Thr221Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAS8 p.Thr437Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAS8 p.Thr478Met
Uncertain significance
Single submitter
primary ciliary dyskinesia 33
-
GAS8 p.Val316Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GAS8 p.Thr121Ser
Uncertain significance
No assertion criteria
GAS8-related disorder
Predictors split 4
The independent predictors disagree with each other — read with care.
-
GAS8 p.Arg203Trp
Uncertain significance
Multiple submitters
primary ciliary dyskinesia 33
-
GAS8 p.Arg259Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- GAS8 p.Asn50Lys Uncertain significance Single submitter
-
GAS8 p.Glu33Lys
Uncertain significance
Single submitter
Inborn genetic diseases
All GAS8 variants
Pathogenic 1
- p.Cys309Ter No assertion criteria primary ciliary dyskinesia 33
Likely pathogenic 1
- p.Glu289fs Single submitter primary ciliary dyskinesia 33
Benign 8
- c.1221+180A>G Multiple submitters
- c.1288-85G>A Multiple submitters
- c.288+91G>C Multiple submitters
- c.3+203C>T Multiple submitters
- c.91-163C>T Multiple submitters
- c.*274G>A Multiple submitters
- c.1011+278G>A Single submitter
- c.495+239G>A Single submitter
Likely benign 5
- c.756+137C>T Single submitter
- c.924+7T>G Single submitter
- p.Arg67= Single submitter
- p.Leu401= Single submitter
- p.Pro3= Single submitter
Uncertain significance 30
- p.Ala187Thr Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg203Trp Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Val338Leu Multiple submitters primary ciliary dyskinesia 33 ⚠
- p.Arg259Trp Single submitter Inborn genetic diseases ⚠
- p.Arg313Cys Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg37His Single submitter primary ciliary dyskinesia 33 ⚠
- p.Arg39Gln Single submitter Inborn genetic diseases ⚠
- p.Arg67Gln Single submitter ⚠
- p.Asn50Lys Single submitter ⚠
- p.Asp232Asn Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asp263Asn Single submitter Inborn genetic diseases ⚠
- p.Asp303Glu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Asp433His Single submitter Inborn genetic diseases
- p.Asp81Ala Single submitter primary ciliary dyskinesia 33 ⚠
- p.Gln384Arg Single submitter Inborn genetic diseases ⚠
- p.Glu33Lys Single submitter Inborn genetic diseases ⚠
- p.Leu154Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Lys74del Single submitter primary ciliary dyskinesia 33
- p.Lys80Asn Single submitter Inborn genetic diseases ⚠
- p.Met195Ile Single submitter Inborn genetic diseases ⚠
- p.Met26Leu Single submitter primary ciliary dyskinesia 33 ⚠
- p.Met26Val Single submitter primary ciliary dyskinesia 33 ⚠
- p.Pro477Gln Single submitter Inborn genetic diseases ⚠
- p.Pro477Leu Single submitter ⚠
- p.Thr221Met Single submitter Inborn genetic diseases ⚠
- p.Thr437Lys Single submitter primary ciliary dyskinesia 33
- p.Thr437Met Single submitter Inborn genetic diseases ⚠
- p.Thr478Met Single submitter primary ciliary dyskinesia 33 ⚠
- p.Val316Phe Single submitter Inborn genetic diseases ⚠
- p.Thr121Ser No assertion criteria GAS8-related disorder ⚠