MAP3K7 — 393 ClinVar variants
All ClinVar germline MAP3K7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →
10 Pathogenic · 3 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 18 Conflicting · 37 Benign · 5 Benign/Likely benign · 114 Likely benign · 192 Uncertain significance
Full MAP3K7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 165
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
MAP3K7 p.Ser272Tyr
Likely pathogenic
Single submitter
frontometaphyseal dysplasia 2
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAP3K7 p.Ala57Gly
Conflicting
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Arg437His
Conflicting
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Arg83His
Conflicting
Single submitter
cardiospondylocarpofacial syndrome
-
MAP3K7 p.Asp211Asn
Conflicting
Single submitter
cardiospondylocarpofacial syndrome
- MAP3K7 p.Gly246Asp Conflicting Single submitter
-
MAP3K7 p.Gly431Asp
Conflicting
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Gly48Glu
Conflicting
Single submitter
cardiospondylocarpofacial syndrome
-
MAP3K7 p.Ile259Val
Conflicting
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Pro249Ser
Conflicting
Single submitter
Delayed skeletal maturation
-
MAP3K7 p.Ser389Gly
Conflicting
Single submitter
Inborn genetic diseases
- MAP3K7 p.Ser8Ala Conflicting Single submitter
-
MAP3K7 p.Thr382Ala
Conflicting
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Val428Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 112
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAP3K7 p.Ala313Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Ala400Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Ala6Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Arg289Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Arg347His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Asn342Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Gly451Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Ile440Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Met392Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Pro480Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAP3K7 p.Ser367Asn Uncertain significance Multiple submitters
-
MAP3K7 p.Thr327Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAP3K7 p.Ala130Thr Uncertain significance Single submitter
- MAP3K7 p.Ala142Gly Uncertain significance Single submitter
- MAP3K7 p.Ala15Ser Uncertain significance Single submitter
- MAP3K7 p.Ala15Val Uncertain significance Single submitter
- MAP3K7 p.Ala357Gly Uncertain significance Single submitter
-
MAP3K7 p.Ala370Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Ala404Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Ala46Thr Uncertain significance Single submitter
- MAP3K7 p.Ala4Val Uncertain significance Single submitter
- MAP3K7 p.Ala73Thr Uncertain significance Single submitter
-
MAP3K7 p.Ala73Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Arg248Gly
Uncertain significance
Single submitter
cardiospondylocarpofacial syndrome
- MAP3K7 p.Arg248Leu Uncertain significance Single submitter
- MAP3K7 p.Arg248Pro Uncertain significance Single submitter
-
MAP3K7 p.Arg265Cys
Uncertain significance
Single submitter
frontometaphyseal dysplasia 2
-
MAP3K7 p.Arg265Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Arg372Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Arg372His Uncertain significance Single submitter
- MAP3K7 p.Arg413Cys Uncertain significance Single submitter
- MAP3K7 p.Arg477Gln Uncertain significance Single submitter
- MAP3K7 p.Arg56Ser Uncertain significance Single submitter
- MAP3K7 p.Arg83Cys Uncertain significance Single submitter
- MAP3K7 p.Asn254Ser Uncertain significance Single submitter
- MAP3K7 p.Asn27Lys Uncertain significance Single submitter
- MAP3K7 p.Asn27Ser Uncertain significance Single submitter
- MAP3K7 p.Asn311Ile Uncertain significance Single submitter
- MAP3K7 p.Asn326Asp Uncertain significance Single submitter
-
MAP3K7 p.Asn329Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Asn334Ser Uncertain significance Single submitter
- MAP3K7 p.Asn342Ser Uncertain significance Single submitter
- MAP3K7 p.Asn490Ser Uncertain significance Single submitter
-
MAP3K7 p.Asp211Gly
Uncertain significance
Single submitter
cardiospondylocarpofacial syndrome
-
MAP3K7 p.Asp555Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Gln434His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Gln434Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Gln586Glu Uncertain significance Single submitter
- MAP3K7 p.Glu105Gly Uncertain significance Single submitter
- MAP3K7 p.Glu199Lys Uncertain significance Single submitter
- MAP3K7 p.Glu30Asp Uncertain significance Single submitter
-
MAP3K7 p.Glu336Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Glu426Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Glu426Lys Uncertain significance Single submitter
-
MAP3K7 p.Gly191Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Gly308Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Gly431Ser Uncertain significance Single submitter
- MAP3K7 p.Gly43Ala Uncertain significance Single submitter
- MAP3K7 p.His129Gln Uncertain significance Single submitter
-
MAP3K7 p.Ile217Phe
Uncertain significance
Single submitter
Abnormal cardiac output
- MAP3K7 p.Ile252Val Uncertain significance Single submitter
- MAP3K7 p.Ile259Thr Uncertain significance Single submitter
-
MAP3K7 p.Ile322Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Ile345Val Uncertain significance Single submitter
- MAP3K7 p.Ile399Val Uncertain significance Single submitter
- MAP3K7 p.Ile421Val Uncertain significance Single submitter
- MAP3K7 p.Ile429Met Uncertain significance Single submitter
-
MAP3K7 p.Leu171Pro
Uncertain significance
Single submitter
cardiospondylocarpofacial syndrome
-
MAP3K7 p.Leu262Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Leu379Phe Uncertain significance Single submitter
- MAP3K7 p.Leu503Arg Uncertain significance Single submitter
-
MAP3K7 p.Lys209Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Lys330Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Met18Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Met240Thr Uncertain significance Single submitter
- MAP3K7 p.Met284Arg Uncertain significance Single submitter
- MAP3K7 p.Met335Arg Uncertain significance Single submitter
-
MAP3K7 p.Met388Val
Uncertain significance
Single submitter
frontometaphyseal dysplasia 2
-
MAP3K7 p.Met392Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Pro380Arg Uncertain significance Single submitter
-
MAP3K7 p.Pro380Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Pro408Ala Uncertain significance Single submitter
- MAP3K7 p.Pro470Thr Uncertain significance Single submitter
- MAP3K7 p.Pro483Leu Uncertain significance Single submitter
- MAP3K7 p.Ser111Phe Uncertain significance Single submitter
- MAP3K7 p.Ser12Thr Uncertain significance Single submitter
- MAP3K7 p.Ser192Arg Uncertain significance Single submitter
-
MAP3K7 p.Ser23Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Ser261Ile Uncertain significance Single submitter
-
MAP3K7 p.Ser310Gly
Uncertain significance
Single submitter
MAP3K7-related disorder
- MAP3K7 p.Ser318Ala Uncertain significance Single submitter
- MAP3K7 p.Ser383Phe Uncertain significance Single submitter
- MAP3K7 p.Ser406Cys Uncertain significance Single submitter
- MAP3K7 p.Ser486Cys Uncertain significance Single submitter
- MAP3K7 p.Thr178Ile Uncertain significance Single submitter
- MAP3K7 p.Thr247Pro Uncertain significance Single submitter
- MAP3K7 p.Thr466Ser Uncertain significance Single submitter
- MAP3K7 p.Thr467Ile Uncertain significance Single submitter
- MAP3K7 p.Thr476Ala Uncertain significance Single submitter
- MAP3K7 p.Tyr124Cys Uncertain significance Single submitter
- MAP3K7 p.Val212Ile Uncertain significance Single submitter
- MAP3K7 p.Val25Ile Uncertain significance Single submitter
- MAP3K7 p.Val338Gly Uncertain significance Single submitter
-
MAP3K7 p.Val42Phe
Uncertain significance
Single submitter
cardiospondylocarpofacial syndrome
- MAP3K7 p.Val453Leu Uncertain significance Single submitter
- MAP3K7 p.Val453Met Uncertain significance Single submitter
-
MAP3K7 p.Val551Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Val594Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Val76Ile Uncertain significance Single submitter
- MAP3K7 p.Val84Glu Uncertain significance Single submitter
-
MAP3K7 p.Arg238Gln
Uncertain significance
No assertion criteria
cardiospondylocarpofacial syndrome
-
MAP3K7 p.Asn329Ile
Uncertain significance
No assertion criteria
MAP3K7-related disorder
Predictors split 39
The independent predictors disagree with each other — read with care.
- MAP3K7 p.Glu108Ala Uncertain significance Multiple submitters
-
MAP3K7 p.Gly411Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Ser10Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAP3K7 p.Ser580Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MAP3K7 p.Ala107Thr Likely pathogenic Single submitter
- MAP3K7 p.Ala151Thr Uncertain significance Single submitter
- MAP3K7 p.Arg265His Uncertain significance Single submitter
-
MAP3K7 p.Arg437Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Arg566Cys Uncertain significance Single submitter
- MAP3K7 p.Asp230Asn Uncertain significance Single submitter
- MAP3K7 p.Asp32Gly Uncertain significance Single submitter
- MAP3K7 p.Cys51Ser Uncertain significance Single submitter
-
MAP3K7 p.Cys588Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Cys96Ser Uncertain significance Single submitter
-
MAP3K7 p.Glu120Lys
Conflicting
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Glu35Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Glu558Lys Uncertain significance Single submitter
- MAP3K7 p.Glu558Val Uncertain significance Single submitter
- MAP3K7 p.Gly167Arg Uncertain significance Single submitter
-
MAP3K7 p.Gly167Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Gly216Ser Uncertain significance Single submitter
-
MAP3K7 p.Gly419Asp
Conflicting
Single submitter
Inborn genetic diseases
- MAP3K7 p.Gly491Glu Uncertain significance Single submitter
-
MAP3K7 p.Ile280Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Leu219Phe Uncertain significance Single submitter
-
MAP3K7 p.Leu251Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAP3K7 p.Lys535Glu Uncertain significance Single submitter
- MAP3K7 p.Met131Val Uncertain significance Single submitter
- MAP3K7 p.Met147Val Uncertain significance Single submitter
- MAP3K7 p.Met284Ile Likely benign Single submitter
- MAP3K7 p.Pro258Thr Uncertain significance Single submitter
- MAP3K7 p.Pro292Ala Uncertain significance Single submitter
- MAP3K7 p.Ser2Cys Uncertain significance Single submitter
-
MAP3K7 p.Ser315Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAP3K7 p.Ser9Phe
Conflicting
Single submitter
Inborn genetic diseases
- MAP3K7 p.Thr187Ser Uncertain significance Single submitter
- MAP3K7 p.Thr224Met Likely benign Single submitter
- MAP3K7 p.Thr538Arg Uncertain significance Single submitter
-
MAP3K7 p.Glu70Gln
Pathogenic
No assertion criteria
frontometaphyseal dysplasia 2
All MAP3K7 variants
Pathogenic 10
- p.Pro512Leu Multiple submitters frontometaphyseal dysplasia 2
- p.Gly110Asp Single submitter frontometaphyseal dysplasia 2
- p.Gly168Arg Single submitter MAP3K7-related disorder
- p.Thr187Ile Single submitter
- p.Trp241Arg Single submitter cardiospondylocarpofacial syndrome
- p.Trp241Gly Single submitter
- p.Tyr206Asp Single submitter cardiospondylocarpofacial syndrome
- p.Arg44_Gly45del No assertion criteria cardiospondylocarpofacial syndrome
- p.Glu70Gln No assertion criteria frontometaphyseal dysplasia 2 ⚠
- p.Val100Glu No assertion criteria frontometaphyseal dysplasia 2
Pathogenic/Likely pathogenic 3
- p.Arg274Cys Multiple submitters
- p.Gly110Ser Multiple submitters
- p.Val50del Multiple submitters MAP3K7-related disorder
Likely pathogenic 14
- p.Ala107Thr Single submitter ⚠
- p.Arg155_Asp156delinsAsn Single submitter MAP3K7-related disorder
- p.Asp156Val Single submitter
- p.Cys174Tyr Single submitter
- p.Glu77Ala Single submitter
- p.Gly110Cys Single submitter cardiospondylocarpofacial syndrome
- p.His185_Thr187del Single submitter MAP3K7-related disorder
- p.Lys209dup Single submitter
- p.Ser192Asn Single submitter cardiospondylocarpofacial syndrome
- p.Ser272Tyr Single submitter frontometaphyseal dysplasia 2 ⚠
- p.Tyr106Cys Single submitter
- p.Tyr206Cys Single submitter
- p.Val42del Single submitter cardiospondylocarpofacial syndrome
- c.608-1G>A No assertion criteria frontometaphyseal dysplasia 2
Conflicting classifications of pathogenicity 18
- c.736+4C>T Single submitter
- c.737-7A>G Single submitter cardiospondylocarpofacial syndrome
- p.Ala57Gly Single submitter Inborn genetic diseases ⚠
- p.Arg437His Single submitter Inborn genetic diseases ⚠
- p.Arg83His Single submitter cardiospondylocarpofacial syndrome ⚠
- p.Asp211Asn Single submitter cardiospondylocarpofacial syndrome ⚠
- p.Glu120Lys Single submitter Inborn genetic diseases ⚠
- p.Gly246Asp Single submitter ⚠
- p.Gly419Asp Single submitter Inborn genetic diseases ⚠
- p.Gly431Asp Single submitter Inborn genetic diseases ⚠
- p.Gly48Glu Single submitter cardiospondylocarpofacial syndrome ⚠
- p.Ile259Val Single submitter Inborn genetic diseases ⚠
- p.Pro249Ser Single submitter Delayed skeletal maturation ⚠
- p.Ser389Gly Single submitter Inborn genetic diseases ⚠
- p.Ser8Ala Single submitter ⚠
- p.Ser9Phe Single submitter Inborn genetic diseases ⚠
- p.Thr382Ala Single submitter Inborn genetic diseases ⚠
- p.Val428Ile Single submitter Inborn genetic diseases ⚠
Benign 37
- c.483-15dup Multiple submitters
- c.483-7T>A Multiple submitters
- c.1080+20G>C Single submitter
- c.120+63G>C Single submitter
- c.121-109del Single submitter
- c.121-176T>C Single submitter
- c.121-20dup Single submitter
- c.1210+299del Single submitter
- c.1210+49T>A Single submitter
- c.1211-10_1211-9del Single submitter
- c.1356+49A>T Single submitter
- c.1357-10C>A Single submitter
- c.1462+268G>A Single submitter
- c.1463-17A>T Single submitter
- c.1525-142T>C Single submitter
- c.231+64del Single submitter
- c.232-140G>A Single submitter
- c.232-209G>C Single submitter
- c.232-78A>G Single submitter
- c.297+243del Single submitter
- c.298-15A>G Single submitter
- c.298-161C>T Single submitter
- c.343+9C>A Single submitter
- c.344-243C>T Single submitter
- c.344-9C>G Single submitter
- c.482+285G>T Single submitter
- c.483-15_483-14dup Single submitter
- c.608-130_608-128del Single submitter
- c.608-309A>G Single submitter
- c.608-5del Single submitter
- c.736+262G>A Single submitter
- c.867+185del Single submitter
- c.868-73A>G Single submitter
- c.949+71A>G Single submitter
- c.950-308A>G Single submitter
- p.Gly168= Single submitter
- p.Ile427Val Single submitter
Benign/Likely benign 5
- c.1524+14T>G Multiple submitters
- c.608-14dup Multiple submitters
- c.868-20G>C Multiple submitters
- c.868-3T>C Multiple submitters
- p.Tyr585= Multiple submitters
Likely benign 114
- c.1462+8G>A Multiple submitters
- c.1463-13G>T Multiple submitters
- c.344-4G>A Multiple submitters
- c.607+19G>A Multiple submitters
- p.Ala151= Multiple submitters
- p.Arg387= Multiple submitters
- p.Thr476= Multiple submitters
- c.1080+9T>C Single submitter
- c.120+10G>A Single submitter
- c.120+11C>A Single submitter
- c.120+20G>C Single submitter
- c.120+9G>A Single submitter
- c.121-14T>C Single submitter
- c.121-22_121-12del Single submitter
- c.1210+11A>G Single submitter
- c.1210+13T>C Single submitter
- c.1211-14A>G Single submitter
- c.1211-20G>C Single submitter
- c.1292-10C>A Single submitter
- c.1292-5T>C Single submitter
- c.1462+20A>C Single submitter
- c.1463-15del Single submitter
- c.1640+10_1640+16dup Single submitter
- c.1640+12T>G Single submitter
- c.1640+9T>A Single submitter
- c.1641-6_1641-3del Single submitter
- c.1641-8G>A Single submitter
- c.231+7T>G Single submitter
- c.297+10T>C Single submitter
- c.297+11T>A Single submitter
- c.298-14T>C Single submitter
- c.298-17A>T Single submitter
- c.298-8del Single submitter
- c.343+20T>A Single submitter
- c.344-13C>G Single submitter
- c.344-4G>T Single submitter
- c.344-5C>T Single submitter
- c.344-6T>C Single submitter
- c.344-6T>G Single submitter
- c.482+12T>G Single submitter
- c.482+14A>C Single submitter
- c.482+20C>T Single submitter
- c.483-4dup Single submitter
- c.483-8_483-7insC Single submitter
- c.607+12A>G Single submitter
- c.607+17A>G Single submitter
- c.608-15C>T Single submitter
- c.608-4C>T Single submitter
- c.608-9T>A Single submitter
- c.736+14A>G Single submitter
- c.736+20T>C Single submitter
- c.737-9C>G Single submitter
- c.867+10T>G Single submitter
- c.867+16T>C Single submitter
- c.867+17G>C Single submitter
- c.867+18A>G Single submitter
- c.868-20G>A Single submitter
- c.868-20G>T Single submitter
- c.949+8G>A Single submitter
- c.950-16T>C Single submitter
- c.950-18T>C Single submitter
- c.950-7T>C Single submitter
- c.-2T>G Single submitter
- p.Ala15= Single submitter
- p.Ala166= Single submitter
- p.Ala357Thr Single submitter
- p.Ala416= Single submitter
- p.Ala46= Single submitter
- p.Ala57= Single submitter
- p.Ala73= Single submitter
- p.Arg456= Single submitter
- p.Arg56= Single submitter
- p.Arg83= Single submitter
- p.Asn355= Single submitter
- p.Asp391= Single submitter
- p.Asp560= Single submitter
- p.Gln452Leu Single submitter
- p.Gln569= Single submitter
- p.Glu199= Single submitter
- p.Glu279= Single submitter
- p.His129= Single submitter
- p.His479= Single submitter
- p.His526= Single submitter
- p.Ile399= Single submitter
- p.Ile427= Single submitter
- p.Leu163= Single submitter
- p.Leu368= Single submitter
- p.Leu379= Single submitter
- p.Leu507= Single submitter
- p.Lys573= Single submitter
- p.Met284Ile Single submitter ⚠
- p.Phe237= Single submitter
- p.Pro123= Single submitter
- p.Pro292= Single submitter
- p.Pro380= Single submitter
- p.Pro460= Single submitter
- p.Pro470= Single submitter
- p.Pro512= Single submitter
- p.Ser204= Single submitter
- p.Ser350= Single submitter
- p.Ser378= Single submitter
- p.Ser468= Single submitter
- p.Ser472Leu Single submitter
- p.Ser492Leu Single submitter
- p.Ser495= Single submitter
- p.Thr224= Single submitter
- p.Thr224Met Single submitter ⚠
- p.Thr327= Single submitter
- p.Thr471= Single submitter
- p.Thr564Ala Single submitter
- p.Tyr533= Single submitter
- p.Val165= Single submitter
- p.Val551= Single submitter
- p.Leu352= No assertion criteria MAP3K7-related disorder
Uncertain significance 192
- p.Ala313Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala400Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala6Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg289Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg347His Multiple submitters Inborn genetic diseases ⚠
- p.Asn342Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp343Glu Multiple submitters
- p.Glu108Ala Multiple submitters ⚠
- p.Gly411Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly451Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile440Val Multiple submitters Inborn genetic diseases ⚠
- p.Met392Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro480Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser10Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser367Asn Multiple submitters ⚠
- p.Ser580Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr327Met Multiple submitters Inborn genetic diseases ⚠
- c.120+8_120+27del Single submitter
- c.1210+3A>G Single submitter
- c.1210+6A>G Single submitter
- c.1291+3A>T Single submitter
- c.1291+4_1291+5del Single submitter
- c.1291+5C>T Single submitter
- c.1292-1G>C Single submitter
- c.1356+4A>G Single submitter
- c.1356+9A>G Single submitter frontometaphyseal dysplasia 2
- c.1524+5A>G Single submitter
- c.232-7T>C Single submitter
- c.607+2del Single submitter
- c.607+5A>C Single submitter
- c.608-3T>C Single submitter
- c.736+1G>A Single submitter
- c.868-17T>A Single submitter cardiospondylocarpofacial syndrome
- c.949+6T>C Single submitter
- c.-5G>T Single submitter
- p.Ala130Thr Single submitter ⚠
- p.Ala142Gly Single submitter ⚠
- p.Ala151Thr Single submitter ⚠
- p.Ala15Ser Single submitter ⚠
- p.Ala15Val Single submitter ⚠
- p.Ala357Gly Single submitter ⚠
- p.Ala370Thr Single submitter Inborn genetic diseases ⚠
- p.Ala404Val Single submitter Inborn genetic diseases ⚠
- p.Ala46Thr Single submitter ⚠
- p.Ala4Val Single submitter ⚠
- p.Ala521Gly Single submitter
- p.Ala73Thr Single submitter ⚠
- p.Ala73Val Single submitter Inborn genetic diseases ⚠
- p.Arg238Ter Single submitter
- p.Arg248Gly Single submitter cardiospondylocarpofacial syndrome ⚠
- p.Arg248Leu Single submitter ⚠
- p.Arg248Pro Single submitter ⚠
- p.Arg265Cys Single submitter frontometaphyseal dysplasia 2 ⚠
- p.Arg265Gly Single submitter Inborn genetic diseases ⚠
- p.Arg265His Single submitter ⚠
- p.Arg372Cys Single submitter Inborn genetic diseases ⚠
- p.Arg372His Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg437Cys Single submitter
- p.Arg437Gly Single submitter Inborn genetic diseases ⚠
- p.Arg456_Pro460del Single submitter
- p.Arg477Gln Single submitter ⚠
- p.Arg566Cys Single submitter ⚠
- p.Arg56Ser Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Asn254Ser Single submitter ⚠
- p.Asn27Lys Single submitter ⚠
- p.Asn27Ser Single submitter ⚠
- p.Asn311Ile Single submitter ⚠
- p.Asn326Asp Single submitter ⚠
- p.Asn329Ser Single submitter Inborn genetic diseases ⚠
- p.Asn334Ser Single submitter ⚠
- p.Asn342Ser Single submitter ⚠
- p.Asn490Ser Single submitter ⚠
- p.Asn515Asp Single submitter
- p.Asp211Gly Single submitter cardiospondylocarpofacial syndrome ⚠
- p.Asp230Asn Single submitter ⚠
- p.Asp32Gly Single submitter ⚠
- p.Asp555Asn Single submitter Inborn genetic diseases ⚠
- p.Asp576Gly Single submitter
- p.Cys266del Single submitter cardiospondylocarpofacial syndrome
- p.Cys51Ser Single submitter ⚠
- p.Cys588Arg Single submitter Inborn genetic diseases ⚠
- p.Cys96Ser Single submitter ⚠
- p.Gln24Ter Single submitter
- p.Gln434His Single submitter Inborn genetic diseases ⚠
- p.Gln434Pro Single submitter Inborn genetic diseases ⚠
- p.Gln508= Single submitter
- p.Gln586Glu Single submitter ⚠
- p.Gln587Ter Single submitter
- p.Glu105Gly Single submitter ⚠
- p.Glu199Lys Single submitter ⚠
- p.Glu30Asp Single submitter ⚠
- p.Glu336Lys Single submitter Inborn genetic diseases ⚠
- p.Glu35Gln Single submitter Inborn genetic diseases ⚠
- p.Glu426Asp Single submitter Inborn genetic diseases ⚠
- p.Glu426Lys Single submitter ⚠
- p.Glu558Lys Single submitter ⚠
- p.Glu558Val Single submitter ⚠
- p.Glu66fs Single submitter cardiospondylocarpofacial syndrome
- p.Gly167Arg Single submitter ⚠
- p.Gly167Trp Single submitter Inborn genetic diseases ⚠
- p.Gly191Glu Single submitter Inborn genetic diseases ⚠
- p.Gly216Ser Single submitter ⚠
- p.Gly308Ala Single submitter Inborn genetic diseases ⚠
- p.Gly373Glu Single submitter
- p.Gly385= Single submitter
- p.Gly431Ser Single submitter ⚠
- p.Gly43Ala Single submitter ⚠
- p.Gly491Glu Single submitter ⚠
- p.His129Gln Single submitter ⚠
- p.Ile217Phe Single submitter Abnormal cardiac output ⚠
- p.Ile252Val Single submitter ⚠
- p.Ile259Thr Single submitter ⚠
- p.Ile280Thr Single submitter Inborn genetic diseases ⚠
- p.Ile322Val Single submitter Inborn genetic diseases ⚠
- p.Ile345Val Single submitter ⚠
- p.Ile399Val Single submitter ⚠
- p.Ile421Val Single submitter ⚠
- p.Ile429Met Single submitter ⚠
- p.Ile496fs Single submitter
- p.Leu171Pro Single submitter cardiospondylocarpofacial syndrome ⚠
- p.Leu219Phe Single submitter ⚠
- p.Leu251Arg Single submitter Inborn genetic diseases ⚠
- p.Leu255Val Single submitter
- p.Leu262Val Single submitter Inborn genetic diseases ⚠
- p.Leu379Phe Single submitter ⚠
- p.Leu503Arg Single submitter ⚠
- p.Lys209Thr Single submitter Inborn genetic diseases ⚠
- p.Lys330Arg Single submitter Inborn genetic diseases ⚠
- p.Lys409Glu Single submitter
- p.Lys535Glu Single submitter ⚠
- p.Met131Val Single submitter ⚠
- p.Met147Val Single submitter ⚠
- p.Met18Val Single submitter Inborn genetic diseases ⚠
- p.Met240Thr Single submitter ⚠
- p.Met284Arg Single submitter ⚠
- p.Met335Arg Single submitter ⚠
- p.Met388Thr Single submitter
- p.Met388Val Single submitter frontometaphyseal dysplasia 2 ⚠
- p.Met392Arg Single submitter
- p.Met392Thr Single submitter Inborn genetic diseases ⚠
- p.Pro258Thr Single submitter ⚠
- p.Pro271Ala Single submitter
- p.Pro292Ala Single submitter ⚠
- p.Pro301Ala Single submitter
- p.Pro380Arg Single submitter ⚠
- p.Pro380Ser Single submitter Inborn genetic diseases ⚠
- p.Pro408Ala Single submitter ⚠
- p.Pro470Thr Single submitter ⚠
- p.Pro483Leu Single submitter ⚠
- p.Pro99= Single submitter
- p.Ser111Phe Single submitter ⚠
- p.Ser12Thr Single submitter ⚠
- p.Ser14_Ala15insSer Single submitter
- p.Ser14_Ala15insSerSer Single submitter
- p.Ser14del Single submitter
- p.Ser192Arg Single submitter ⚠
- p.Ser23Cys Single submitter Inborn genetic diseases ⚠
- p.Ser261Ile Single submitter ⚠
- p.Ser2Cys Single submitter ⚠
- p.Ser310Gly Single submitter MAP3K7-related disorder ⚠
- p.Ser315Asn Single submitter Inborn genetic diseases ⚠
- p.Ser318Ala Single submitter ⚠
- p.Ser383Phe Single submitter ⚠
- p.Ser389Cys Single submitter Inborn genetic diseases
- p.Ser406Cys Single submitter ⚠
- p.Ser486Cys Single submitter ⚠
- p.Thr178Ile Single submitter ⚠
- p.Thr187Ser Single submitter ⚠
- p.Thr247Pro Single submitter ⚠
- p.Thr403= Single submitter
- p.Thr466Ser Single submitter ⚠
- p.Thr467Ile Single submitter ⚠
- p.Thr476Ala Single submitter ⚠
- p.Thr538Arg Single submitter ⚠
- p.Tyr124Cys Single submitter ⚠
- p.Tyr300fs Single submitter
- p.Tyr33fs Single submitter
- p.Val212Ile Single submitter ⚠
- p.Val25Ile Single submitter ⚠
- p.Val338Gly Single submitter ⚠
- p.Val42Phe Single submitter cardiospondylocarpofacial syndrome ⚠
- p.Val453Leu Single submitter ⚠
- p.Val453Met Single submitter ⚠
- p.Val551Phe Single submitter Inborn genetic diseases ⚠
- p.Val594Asp Single submitter Inborn genetic diseases
- p.Val594Ile Single submitter Inborn genetic diseases ⚠
- p.Val76Ile Single submitter ⚠
- p.Val84Glu Single submitter ⚠
- p.Arg238Gln No assertion criteria cardiospondylocarpofacial syndrome ⚠
- p.Asn329Ile No assertion criteria MAP3K7-related disorder ⚠