MAPK1 — 68 ClinVar variants
All ClinVar germline MAPK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
5 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 3 Benign · 1 Benign/Likely benign · 17 Likely benign · 34 Uncertain significance
Full MAPK1 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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAPK1 p.Ile255Val
Conflicting
Single submitter
Noonan syndrome 13
Predictors lean, ClinVar uncertain 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MAPK1 p.Asn27Asp Uncertain significance Multiple submitters
- MAPK1 p.Ala352Ser Uncertain significance Single submitter
- MAPK1 p.Ala35Thr Uncertain significance Single submitter
- MAPK1 p.Ala42Thr Uncertain significance Single submitter
-
MAPK1 p.Ala52Asp
Uncertain significance
Single submitter
Noonan syndrome 13
-
MAPK1 p.Arg15Gly
Uncertain significance
Single submitter
Noonan syndrome 13
-
MAPK1 p.Arg172Leu
Uncertain significance
Single submitter
Noonan syndrome 13
-
MAPK1 p.Asn297Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAPK1 p.Glu81Lys
Uncertain significance
Single submitter
Noonan syndrome 13
- MAPK1 p.His120Asn Uncertain significance Single submitter
- MAPK1 p.Ile103Val Uncertain significance Single submitter
-
MAPK1 p.Ile227Thr
Uncertain significance
Single submitter
Noonan syndrome 13
-
MAPK1 p.Leu107Pro
Uncertain significance
Single submitter
Noonan syndrome 13
-
MAPK1 p.Lys164Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAPK1 p.Met13Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MAPK1 p.Phe329Leu Uncertain significance Single submitter
- MAPK1 p.Pro11Leu Uncertain significance Single submitter
- MAPK1 p.Pro152Ser Uncertain significance Single submitter
-
MAPK1 p.Tyr43Phe
Uncertain significance
Single submitter
Noonan syndrome 13
Predictors split 7
The independent predictors disagree with each other — read with care.
-
MAPK1 p.Ala174Val
Pathogenic
Multiple submitters
Macrocephaly
- MAPK1 p.Asp175Glu Uncertain significance Single submitter
- MAPK1 p.Gln119His Likely pathogenic Single submitter
- MAPK1 p.Glu305Gly Uncertain significance Single submitter
- MAPK1 p.Ile227Val Uncertain significance Single submitter
- MAPK1 p.Ser320Ile Uncertain significance Single submitter
- MAPK1 p.Thr94Ile Uncertain significance Single submitter
All MAPK1 variants
Pathogenic 5
- p.Ala174Val Multiple submitters Macrocephaly ⚠
- p.Asp318Gly Multiple submitters Abnormal heart morphology
- p.His80Tyr Multiple submitters Atypical behavior
- p.Ile74Asn Single submitter Atypical behavior
- p.Pro323Arg Single submitter Abnormal heart morphology
Pathogenic/Likely pathogenic 2
- p.Asp318Asn Multiple submitters Abnormal heart morphology
- p.Glu322Gln Multiple submitters Atypical behavior
Likely pathogenic 5
- p.Arg135Thr Multiple submitters Inborn genetic diseases
- p.Asn82Asp Single submitter Noonan syndrome 13
- p.Gln119His Single submitter ⚠
- p.Pro323His Single submitter
- p.Tyr316His Single submitter Noonan syndrome 13
Conflicting classifications of pathogenicity 1
- p.Ile255Val Single submitter Noonan syndrome 13 ⚠
Benign 3
Benign/Likely benign 1
- p.Ala7dup Multiple submitters
Likely benign 17
- p.Ala325= Multiple submitters
- c.119+11G>T Single submitter
- c.119+16C>G Single submitter
- c.724+12G>A Single submitter
- c.967-15del Single submitter
- p.Cys40= Single submitter Inborn genetic diseases
- p.Leu264= Single submitter
- p.Leu290= Single submitter
- p.Phe296= Single submitter
- p.Thr160= Single submitter
- p.Tyr317= Single submitter
- p.Val21= Single submitter
- c.120-20CT[5] No assertion criteria MAPK1-related disorder
- c.492+10G>A No assertion criteria MAPK1-related disorder
- c.610-9C>T No assertion criteria MAPK1-related disorder
- p.Pro319= No assertion criteria MAPK1-related disorder
- p.Thr94Ala No assertion criteria MAPK1-related disorder
Uncertain significance 34
- p.Ala7_Gly8insAlaAla Multiple submitters MAPK1-related disorder
- p.Asn27Asp Multiple submitters ⚠
- c.725-4A>G Single submitter MAPK1-related disorder
- c.966+3A>G Single submitter Noonan syndrome 13
- p.Ala2_Ala3insMetAla Single submitter
- p.Ala352Ser Single submitter ⚠
- p.Ala35Thr Single submitter ⚠
- p.Ala42Thr Single submitter ⚠
- p.Ala52Asp Single submitter Noonan syndrome 13 ⚠
- p.Arg15Gly Single submitter Noonan syndrome 13 ⚠
- p.Arg172Leu Single submitter Noonan syndrome 13 ⚠
- p.Arg50Gln Single submitter
- p.Asn297Ser Single submitter Inborn genetic diseases ⚠
- p.Asp175Glu Single submitter ⚠
- p.Asp177_His178insAspLeu Single submitter
- p.Glu305Gly Single submitter ⚠
- p.Glu81Lys Single submitter Noonan syndrome 13 ⚠
- p.Gly357= Single submitter
- p.His120Asn Single submitter ⚠
- p.Ile103Val Single submitter ⚠
- p.Ile227Thr Single submitter Noonan syndrome 13 ⚠
- p.Ile227Val Single submitter ⚠
- p.Leu107Pro Single submitter Noonan syndrome 13 ⚠
- p.Leu338Val Single submitter
- p.Lys164Gln Single submitter Inborn genetic diseases ⚠
- p.Met13Ile Single submitter Inborn genetic diseases ⚠
- p.Met1fs Single submitter
- p.Phe329Leu Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro319Leu Single submitter
- p.Ser320Ile Single submitter ⚠
- p.Thr94Ile Single submitter ⚠
- p.Tyr43Phe Single submitter Noonan syndrome 13 ⚠