MNX1 — 423 ClinVar variants
All ClinVar germline MNX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →
30 Pathogenic · 2 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 9 Conflicting · 15 Benign · 4 Benign/Likely benign · 111 Likely benign · 237 Uncertain significance
Full MNX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 199
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MNX1 p.Ala70Thr
Conflicting
Single submitter
Inborn genetic diseases
- MNX1 p.Leu278Phe Conflicting Single submitter
-
MNX1 p.Lys295Asn
Conflicting
Single submitter
Inborn genetic diseases
-
MNX1 p.Ser299Cys
Conflicting
Single submitter
Inborn genetic diseases
-
MNX1 p.Ser55Thr
Conflicting
Single submitter
Currarino triad
Predictors lean, ClinVar uncertain 149
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MNX1 p.Ala192Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Ala198Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Ala20Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Ala23Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Ala26Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MNX1 p.Ala379Thr Uncertain significance Multiple submitters
-
MNX1 p.Ala75Val
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Arg243Gln
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Arg293Gln
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Arg393Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Asn230Ser
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Asp341Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Asp350Asn
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Glu327Gly
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Gly319Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Gly52Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Gly53Glu
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Leu90Pro
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Lys270Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Met226Val
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Pro197Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Pro328Arg
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Pro390Ala
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Pro391Thr
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Pro392Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Pro392Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Pro92Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Ser380Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Ser389Leu
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Ser63Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Thr106Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Val15Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MNX1 p.Ala121Ser Uncertain significance Single submitter
- MNX1 p.Ala121Val Uncertain significance Single submitter
- MNX1 p.Ala123Val Uncertain significance Single submitter
-
MNX1 p.Ala174Ser
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Ala181Thr Uncertain significance Single submitter
-
MNX1 p.Ala195Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Ala216Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Ala216Thr Uncertain significance Single submitter
-
MNX1 p.Ala26Pro
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Ala302Pro
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Ala302Thr Uncertain significance Single submitter
-
MNX1 p.Ala306Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Ala320Ser Uncertain significance Single submitter
- MNX1 p.Ala320Val Uncertain significance Single submitter
-
MNX1 p.Ala325Ser
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Ala330Thr Uncertain significance Single submitter
-
MNX1 p.Ala35Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Ala378Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Ala379Val
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Ala38Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Ala50Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Ala61Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Ala61Thr Uncertain significance Single submitter
- MNX1 p.Ala68Val Uncertain significance Single submitter
- MNX1 p.Ala75Gly Uncertain significance Single submitter
- MNX1 p.Ala75Ser Uncertain significance Single submitter
- MNX1 p.Ala89Thr Uncertain significance Single submitter
- MNX1 p.Ala99Pro Uncertain significance Single submitter
-
MNX1 p.Arg19Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Arg298Ser Uncertain significance Single submitter
-
MNX1 p.Arg352Thr
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Arg82Gly Uncertain significance Single submitter
- MNX1 p.Asn291His Uncertain significance Single submitter
-
MNX1 p.Asn372Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Asp16Glu Uncertain significance Single submitter
-
MNX1 p.Asp199Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Asp228Asn Uncertain significance Single submitter
- MNX1 p.Asp228His Uncertain significance Single submitter
- MNX1 p.Asp382Asn Uncertain significance Single submitter
- MNX1 p.Asp387Asn Uncertain significance Single submitter
- MNX1 p.Asp388Tyr Uncertain significance Single submitter
-
MNX1 p.Cys241Gly
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Gln178Glu Uncertain significance Single submitter
- MNX1 p.Gln24Arg Uncertain significance Single submitter
- MNX1 p.Gln290Leu Uncertain significance Single submitter
- MNX1 p.Gln401Arg Uncertain significance Single submitter
- MNX1 p.Glu327Asp Uncertain significance Single submitter
- MNX1 p.Glu386Lys Uncertain significance Single submitter
-
MNX1 p.Gly102Ala
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Gly105Ala Uncertain significance Single submitter
-
MNX1 p.Gly111Arg
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Gly112Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Gly112Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Gly120Ser Uncertain significance Single submitter
-
MNX1 p.Gly120Val
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Gly160Ser
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Gly319Val Uncertain significance Single submitter
- MNX1 p.Gly324Asp Uncertain significance Single submitter
- MNX1 p.Gly335Ala Uncertain significance Single submitter
-
MNX1 p.Gly345Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Gly40Val Uncertain significance Single submitter
-
MNX1 p.Gly44Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Gly45Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Gly98Ser Uncertain significance Single submitter
- MNX1 p.His114Gln Uncertain significance Single submitter
-
MNX1 p.His118Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.His193Gln Uncertain significance Single submitter
- MNX1 p.His367Tyr Uncertain significance Single submitter
- MNX1 p.His396Pro Uncertain significance Single submitter
- MNX1 p.His87Arg Uncertain significance Single submitter
- MNX1 p.His87Gln Uncertain significance Single submitter
-
MNX1 p.Ile201Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Leu238Met Uncertain significance Single submitter
-
MNX1 p.Leu278Val
Uncertain significance
Single submitter
MNX1-related disorder
- MNX1 p.Leu333Pro Uncertain significance Single submitter
- MNX1 p.Leu90Arg Uncertain significance Single submitter
-
MNX1 p.Lys225Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Lys5Arg
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Met221Lys
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Phe260Ile Uncertain significance Single submitter
- MNX1 p.Pro119Leu Uncertain significance Single submitter
- MNX1 p.Pro119Ser Uncertain significance Single submitter
-
MNX1 p.Pro119Thr
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Pro194Ser
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Pro244Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Pro328Leu Uncertain significance Single submitter
- MNX1 p.Pro336Leu Uncertain significance Single submitter
- MNX1 p.Pro339Ala Uncertain significance Single submitter
- MNX1 p.Pro339Arg Uncertain significance Single submitter
- MNX1 p.Pro356Ser Uncertain significance Single submitter
- MNX1 p.Pro369Arg Uncertain significance Single submitter
-
MNX1 p.Pro369Thr
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Pro390Leu Uncertain significance Single submitter
- MNX1 p.Pro392Ala Uncertain significance Single submitter
- MNX1 p.Pro392Ser Uncertain significance Single submitter
-
MNX1 p.Pro398Ser
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Pro400Ser
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Pro60Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Pro65Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Pro66Arg Uncertain significance Single submitter
-
MNX1 p.Pro66Ser
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Pro69Leu Uncertain significance Single submitter
-
MNX1 p.Pro69Ser
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Ser277Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Ser277Trp Uncertain significance Single submitter
-
MNX1 p.Ser375Thr
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Ser384Cys Uncertain significance Single submitter
- MNX1 p.Ser385Leu Uncertain significance Single submitter
- MNX1 p.Ser395Gly Uncertain significance Single submitter
-
MNX1 p.Ser79Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Thr207Ala
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Thr218Ile Uncertain significance Single submitter
- MNX1 p.Thr41Ile Uncertain significance Single submitter
-
MNX1 p.Thr41Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Tyr265Phe Uncertain significance Single submitter
- MNX1 p.Arg346Leu Uncertain significance No assertion criteria
-
MNX1 p.Leu73Pro
Uncertain significance
No assertion criteria
MNX1-related disorder
Predictors split 45
The independent predictors disagree with each other — read with care.
-
MNX1 p.Ala130Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MNX1 p.Asp361Asn Uncertain significance Multiple submitters
-
MNX1 p.Gly105Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MNX1 p.Gly177Cys
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Gly319Asp
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Gly42Arg
Uncertain significance
Multiple submitters
Currarino triad
-
MNX1 p.Gly49Arg
Uncertain significance
Multiple submitters
Currarino triad
- MNX1 p.Leu28Pro Uncertain significance Multiple submitters
-
MNX1 p.Pro81Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- MNX1 p.Ala11Val Uncertain significance Single submitter
- MNX1 p.Ala122Thr Uncertain significance Single submitter
- MNX1 p.Ala128Ser Uncertain significance Single submitter
-
MNX1 p.Ala29Val
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Ala307Thr Uncertain significance Single submitter
- MNX1 p.Ala310Thr Uncertain significance Single submitter
- MNX1 p.Arg82Ser Uncertain significance Single submitter
- MNX1 p.Arg8Cys Uncertain significance Single submitter
-
MNX1 p.Asp353Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Glu360Lys Uncertain significance Single submitter
- MNX1 p.Glu362Lys Uncertain significance Single submitter
- MNX1 p.Gly101Asp Uncertain significance Single submitter
- MNX1 p.Gly104Asp Uncertain significance Single submitter
- MNX1 p.Gly107Arg Uncertain significance Single submitter
- MNX1 p.Gly109Arg Uncertain significance Single submitter
- MNX1 p.Gly206Arg Uncertain significance Single submitter
- MNX1 p.Gly220Ser Uncertain significance Single submitter
-
MNX1 p.Gly319Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Gly324Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Gly42Glu Uncertain significance Single submitter
-
MNX1 p.Gly44Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Gly46Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MNX1 p.Gly46Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.His115Arg Uncertain significance Single submitter
- MNX1 p.His179Arg Uncertain significance Single submitter
-
MNX1 p.Ile201Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- MNX1 p.Ile9Met Uncertain significance Single submitter
- MNX1 p.Leu30Ser Uncertain significance Single submitter
-
MNX1 p.Lys225Asn
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Pro153Leu
Uncertain significance
Single submitter
Currarino triad
- MNX1 p.Pro18Leu Uncertain significance Single submitter
- MNX1 p.Pro194Arg Uncertain significance Single submitter
- MNX1 p.Pro78Leu Uncertain significance Single submitter
- MNX1 p.Ser33Leu Uncertain significance Single submitter
-
MNX1 p.Val274Met
Uncertain significance
Single submitter
Currarino triad
-
MNX1 p.Ile222Asn
Uncertain significance
No assertion criteria
MNX1-related disorder
All MNX1 variants
Pathogenic 30
- p.Arg19fs Multiple submitters Currarino triad
- c.853-2A>C Single submitter
- p.Ala125fs Single submitter
- p.Ala129fs Single submitter
- p.Ala157fs Single submitter
- p.Ala233fs Single submitter
- p.Ala26fs Single submitter
- p.Ala50fs Single submitter Currarino triad
- p.Arg292Trp Single submitter
- p.Arg8fs Single submitter
- p.Gln190Ter Single submitter
- p.Gln24Ter Single submitter Currarino triad
- p.Gln251fs Single submitter
- p.Gln251Ter Single submitter
- p.Gly109fs Single submitter
- p.Ile201fs Single submitter
- p.Met1fs Single submitter
- p.Phe229fs Single submitter
- p.Pro113fs Single submitter
- p.Pro66fs Single submitter
- p.Ser39fs Single submitter Fetal anomalies with a likely genetic cause
- p.Ser4fs Single submitter
- p.Trp213Ter Single submitter
- p.Trp288Ter Single submitter Currarino triad
- c.853-2A>G No assertion criteria Currarino triad
- p.Gln259Ter No assertion criteria Currarino triad
- p.Glu282Ter No assertion criteria Currarino triad
- p.Gly191fs No assertion criteria Currarino triad
- p.His114fs No assertion criteria Currarino triad
- p.Thr246Ser No assertion criteria Currarino triad
Pathogenic/Likely pathogenic 2
- p.Ala195fs Multiple submitters MNX1-related disorder
- p.Gln188Ter Multiple submitters Currarino triad
Likely pathogenic 15
- p.His87fs Multiple submitters Currarino triad
- p.Pro400fs Multiple submitters Abnormality of the vertebral column
- c.692-2A>G Single submitter
- c.852+1G>A Single submitter Currarino triad
- p.Arg271fs Single submitter
- p.Gln209Ter Single submitter Currarino triad
- p.Gln284Glu Single submitter
- p.Gln290Arg Single submitter Currarino triad
- p.Phe260Leu Single submitter
- p.Tyr186Ter Single submitter Currarino triad
- p.Val189fs Single submitter MNX1-related disorder
- p.Arg243Trp No assertion criteria MNX1-related disorder
- p.Arg245Cys No assertion criteria MNX1-related disorder
- p.Glu76Ter No assertion criteria Currarino triad
- p.Leu256Arg No assertion criteria MNX1-related disorder
Conflicting classifications of pathogenicity 9
- p.193HPA[1] Single submitter
- p.358ED[2] Single submitter Currarino triad
- p.Ala70Thr Single submitter Inborn genetic diseases ⚠
- p.Asp353Glu Single submitter Currarino triad
- p.Gln290= Single submitter Inborn genetic diseases
- p.Leu278Phe Single submitter ⚠
- p.Lys295Asn Single submitter Inborn genetic diseases ⚠
- p.Ser299Cys Single submitter Inborn genetic diseases ⚠
- p.Ser55Thr Single submitter Currarino triad ⚠
Benign 15
- c.691+430C>T Multiple submitters
- c.691+654C>A Multiple submitters
- c.691+693G>C Multiple submitters
- c.691+888A>T Multiple submitters
- c.852+92A>G Multiple submitters
- c.853-137T>C Multiple submitters
- c.*232G>A Multiple submitters
- p.Pro119= Multiple submitters
- c.852+277C>A Single submitter
- c.853-8G>A Single submitter
- c.*165dup Single submitter
- p.Ala124_Ala125insThrAla Single submitter
- p.Ala133_Ala134dup Single submitter Currarino triad
- p.Ala134_Gly135insAlaAla Single submitter
- p.Leu28= Single submitter
Benign/Likely benign 4
- c.691+10C>G Multiple submitters Currarino triad
- p.Ala379= Multiple submitters
- p.Gly42= Multiple submitters Currarino triad
- p.Pro78= Multiple submitters Currarino triad
Likely benign 111
- c.691+14G>T Multiple submitters
- c.691+20C>G Multiple submitters
- c.691+668G>C Multiple submitters
- c.691+9C>T Multiple submitters
- c.692-18C>T Multiple submitters Currarino triad
- c.853-4G>T Multiple submitters Currarino triad
- p.Ala124= Multiple submitters Currarino triad
- p.Ala176= Multiple submitters Currarino triad
- p.Ala325= Multiple submitters
- p.Ala36= Multiple submitters
- p.Ala378= Multiple submitters
- p.Gly105del Multiple submitters Currarino triad
- p.Leu348= Multiple submitters
- p.Pro398Leu Multiple submitters Currarino triad
- p.Pro66= Multiple submitters
- c.691+10C>A Single submitter
- c.691+12G>A Single submitter
- c.691+17C>T Single submitter
- c.691+20C>A Single submitter
- c.691+667C>A Single submitter
- c.691+8C>A Single submitter
- c.692-19A>G Single submitter
- c.692-8G>C Single submitter
- c.852+12C>T Single submitter
- c.852+20C>G Single submitter
- c.852+8C>T Single submitter
- c.853-12T>C Single submitter
- c.853-18G>A Single submitter
- c.853-19C>T Single submitter
- c.*14C>T Single submitter
- c.*322C>A Single submitter
- p.Ala117= Single submitter
- p.Ala121= Single submitter
- p.Ala122= Single submitter
- p.Ala123= Single submitter
- p.Ala126= Single submitter
- p.Ala127= Single submitter
- p.Ala128= Single submitter
- p.Ala128_Ala134del Single submitter
- p.Ala129= Single submitter
- p.Ala131_Ala134dup Single submitter
- p.Ala156= Single submitter
- p.Ala157= Single submitter
- p.Ala192= Single submitter
- p.Ala20= Single submitter
- p.Ala216= Single submitter
- p.Ala306= Single submitter
- p.Ala325Gly Single submitter
- p.Ala38= Single submitter
- p.Ala67= Single submitter
- p.Ala85= Single submitter
- p.Ala86= Single submitter
- p.Ala99= Single submitter
- p.Arg19= Single submitter
- p.Arg72= Single submitter
- p.Asp350= Single submitter
- p.Glu331= Single submitter
- p.Glu365= Single submitter
- p.Glu76= Single submitter
- p.Gly104= Single submitter
- p.Gly112= Single submitter
- p.Gly177= Single submitter
- p.Gly316= Single submitter
- p.Gly317= Single submitter
- p.Gly317_Gly324del Single submitter Currarino triad
- p.Gly321= Single submitter
- p.Gly340= Single submitter
- p.Gly373= Single submitter
- p.Gly43= Single submitter
- p.Gly47= Single submitter
- p.Gly49del Single submitter
- p.Gly52= Single submitter
- p.Gly95= Single submitter
- p.His116= Single submitter
- p.His377= Single submitter
- p.Ile201= Single submitter
- p.Ile222= Single submitter
- p.Ile9= Single submitter
- p.Leu13= Single submitter
- p.Leu223= Single submitter
- p.Leu256= Single submitter
- p.Leu278= Single submitter
- p.Leu334= Single submitter
- p.Leu83= Single submitter
- p.Leu90= Single submitter
- p.Lys264= Single submitter
- p.Phe368= Single submitter
- p.Pro113= Single submitter
- p.Pro187= Single submitter
- p.Pro328= Single submitter
- p.Pro336= Single submitter
- p.Pro339= Single submitter
- p.Pro356= Single submitter
- p.Pro390= Single submitter
- p.Pro391Ser Single submitter
- p.Pro398= Single submitter
- p.Pro81= Single submitter
- p.Pro92= Single submitter
- p.Pro94= Single submitter
- p.Ser185= Single submitter
- p.Ser57= Single submitter
- p.Ser79= Single submitter
- p.Thr106= Single submitter
- p.Thr246= Single submitter
- p.Thr283= Single submitter
- p.Tyr184= Single submitter
- p.Val285= Single submitter
- c.*7C>G No assertion criteria MNX1-related disorder
- p.Gly45= No assertion criteria MNX1-related disorder
- p.Pro65= No assertion criteria MNX1-related disorder
- p.Thr41= No assertion criteria MNX1-related disorder
Uncertain significance 237
- p.361DED[1] Multiple submitters Currarino triad
- p.Ala124Asp Multiple submitters Inborn genetic diseases
- p.Ala130_Ala134del Multiple submitters
- p.Ala130Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala192Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala198Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala20Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala23Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala26Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala379Thr Multiple submitters ⚠
- p.Ala38_Ser39insAla Multiple submitters Currarino triad
- p.Ala75Val Multiple submitters Currarino triad ⚠
- p.Arg243Gln Multiple submitters Currarino triad ⚠
- p.Arg293Gln Multiple submitters Currarino triad ⚠
- p.Arg393Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn230Ser Multiple submitters Currarino triad ⚠
- p.Asp341Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp350Asn Multiple submitters Currarino triad ⚠
- p.Asp361Asn Multiple submitters ⚠
- p.Asp363_Asp364insGluAsp Multiple submitters
- p.Glu327Gly Multiple submitters Currarino triad ⚠
- p.Gly105Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly105dup Multiple submitters Currarino triad
- p.Gly177Cys Multiple submitters Currarino triad ⚠
- p.Gly319Asp Multiple submitters Currarino triad ⚠
- p.Gly319Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly42Arg Multiple submitters Currarino triad ⚠
- p.Gly47_Gly49dup Multiple submitters Currarino triad
- p.Gly49_Ala50insGly Multiple submitters Currarino triad
- p.Gly49_Ala50insGlyGly Multiple submitters Currarino triad
- p.Gly49Arg Multiple submitters Currarino triad ⚠
- p.Gly52Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly53Glu Multiple submitters Currarino triad ⚠
- p.Leu28Pro Multiple submitters ⚠
- p.Leu90Pro Multiple submitters Currarino triad ⚠
- p.Lys270Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met226Val Multiple submitters Currarino triad ⚠
- p.Pro143Arg Multiple submitters Currarino triad
- p.Pro197Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro328Arg Multiple submitters Currarino triad ⚠
- p.Pro390Ala Multiple submitters Currarino triad ⚠
- p.Pro391Thr Multiple submitters Currarino triad ⚠
- p.Pro392Gln Multiple submitters Inborn genetic diseases ⚠
- p.Pro392Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro78Arg Multiple submitters
- p.Pro81Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro92Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser380Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser389Leu Multiple submitters Currarino triad ⚠
- p.Ser63Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr106Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val15Ala Multiple submitters Inborn genetic diseases ⚠
- c.691+620_691+621del Single submitter
- c.852+6C>G Single submitter
- p.254LE[1] Single submitter
- p.Ala11Val Single submitter ⚠
- p.Ala121Ser Single submitter ⚠
- p.Ala121Val Single submitter ⚠
- p.Ala122Thr Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala124_Ala125insSerAla Single submitter
- p.Ala125_Ala134del Single submitter
- p.Ala127_Ala128insValAla Single submitter
- p.Ala128Ser Single submitter ⚠
- p.Ala134_Gly135insAlaAlaAla Single submitter
- p.Ala134_Gly135insAlaAlaAlaAlaAla Single submitter
- p.Ala134_Gly135insAlaAlaAlaAlaAlaAlaAla Single submitter
- p.Ala174Ser Single submitter Currarino triad ⚠
- p.Ala181Thr Single submitter ⚠
- p.Ala195Ser Single submitter Inborn genetic diseases ⚠
- p.Ala216Ser Single submitter Inborn genetic diseases ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala219Gly Single submitter Currarino triad
- p.Ala219Thr Single submitter Currarino triad
- p.Ala26Pro Single submitter Currarino triad ⚠
- p.Ala29Val Single submitter Inborn genetic diseases ⚠
- p.Ala302Pro Single submitter Currarino triad ⚠
- p.Ala302Thr Single submitter ⚠
- p.Ala306Glu Single submitter Inborn genetic diseases ⚠
- p.Ala307Thr Single submitter ⚠
- p.Ala310Thr Single submitter ⚠
- p.Ala320Ser Single submitter ⚠
- p.Ala320Val Single submitter ⚠
- p.Ala325_Glu326insGlyLysGlyGlyAla Single submitter
- p.Ala325Ser Single submitter Currarino triad ⚠
- p.Ala330Thr Single submitter ⚠
- p.Ala35Thr Single submitter Inborn genetic diseases ⚠
- p.Ala378Thr Single submitter Inborn genetic diseases ⚠
- p.Ala379Val Single submitter Currarino triad ⚠
- p.Ala38Thr Single submitter Inborn genetic diseases ⚠
- p.Ala50Glu Single submitter Inborn genetic diseases ⚠
- p.Ala61Gly Single submitter Inborn genetic diseases ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Ala75Gly Single submitter ⚠
- p.Ala75Ser Single submitter ⚠
- p.Ala89Thr Single submitter ⚠
- p.Ala99Pro Single submitter ⚠
- p.Arg19Gln Single submitter Inborn genetic diseases ⚠
- p.Arg298Ser Single submitter ⚠
- p.Arg352Thr Single submitter Currarino triad ⚠
- p.Arg82Gly Single submitter ⚠
- p.Arg82Leu Single submitter
- p.Arg82Ser Single submitter ⚠
- p.Arg8Cys Single submitter ⚠
- p.Asn291His Single submitter ⚠
- p.Asn372Ser Single submitter Inborn genetic diseases ⚠
- p.Asp16Glu Single submitter ⚠
- p.Asp199Glu Single submitter Inborn genetic diseases ⚠
- p.Asp228Asn Single submitter ⚠
- p.Asp228His Single submitter ⚠
- p.Asp353Gly Single submitter Inborn genetic diseases ⚠
- p.Asp382Asn Single submitter ⚠
- p.Asp387Asn Single submitter ⚠
- p.Asp388Tyr Single submitter ⚠
- p.Cys241Gly Single submitter Currarino triad ⚠
- p.Gln178Glu Single submitter ⚠
- p.Gln24Arg Single submitter ⚠
- p.Gln284= Single submitter Currarino triad
- p.Gln290Leu Single submitter ⚠
- p.Gln290Ter Single submitter
- p.Gln401Arg Single submitter ⚠
- p.Glu327Asp Single submitter ⚠
- p.Glu358Lys Single submitter
- p.Glu360Lys Single submitter ⚠
- p.Glu362Lys Single submitter ⚠
- p.Glu386Lys Single submitter ⚠
- p.Gly101Asp Single submitter ⚠
- p.Gly102Ala Single submitter Currarino triad ⚠
- p.Gly103_Gly105del Single submitter
- p.Gly103_Gly109del Single submitter
- p.Gly104_Gly105del Single submitter
- p.Gly104Asp Single submitter ⚠
- p.Gly105_Thr106insGlyGly Single submitter
- p.Gly105Ala Single submitter ⚠
- p.Gly107Arg Single submitter ⚠
- p.Gly109_His110insGlyGlyGlyThrGlyGlyGly Single submitter
- p.Gly109Arg Single submitter ⚠
- p.Gly111Arg Single submitter Currarino triad ⚠
- p.Gly112Arg Single submitter Inborn genetic diseases ⚠
- p.Gly112Glu Single submitter Inborn genetic diseases ⚠
- p.Gly120Ser Single submitter ⚠
- p.Gly120Val Single submitter Currarino triad ⚠
- p.Gly160Ser Single submitter Currarino triad ⚠
- p.Gly206Arg Single submitter ⚠
- p.Gly220Ser Single submitter ⚠
- p.Gly319Arg Single submitter Inborn genetic diseases ⚠
- p.Gly319Val Single submitter ⚠
- p.Gly324_Ala325insGlyGlyAlaGlyLysGlyGly Single submitter
- p.Gly324Asp Single submitter ⚠
- p.Gly324Cys Single submitter Inborn genetic diseases ⚠
- p.Gly335Ala Single submitter ⚠
- p.Gly345Arg Single submitter Inborn genetic diseases ⚠
- p.Gly40Val Single submitter ⚠
- p.Gly42Glu Single submitter ⚠
- p.Gly44Ala Single submitter Inborn genetic diseases ⚠
- p.Gly44Asp Single submitter Inborn genetic diseases ⚠
- p.Gly45Ser Single submitter Inborn genetic diseases ⚠
- p.Gly46Arg Single submitter Inborn genetic diseases ⚠
- p.Gly46Cys Single submitter Inborn genetic diseases ⚠
- p.Gly98Ser Single submitter ⚠
- p.His114Gln Single submitter ⚠
- p.His115Arg Single submitter ⚠
- p.His118Tyr Single submitter Inborn genetic diseases ⚠
- p.His179Arg Single submitter ⚠
- p.His179Gln Single submitter
- p.His193Gln Single submitter ⚠
- p.His367Tyr Single submitter ⚠
- p.His396Pro Single submitter ⚠
- p.His87Arg Single submitter ⚠
- p.His87Gln Single submitter ⚠
- p.Ile201Thr Single submitter Inborn genetic diseases ⚠
- p.Ile201Val Single submitter Inborn genetic diseases ⚠
- p.Ile9Met Single submitter ⚠
- p.Leu238Met Single submitter ⚠
- p.Leu278Val Single submitter MNX1-related disorder ⚠
- p.Leu30Ser Single submitter ⚠
- p.Leu333Pro Single submitter ⚠
- p.Leu90Arg Single submitter ⚠
- p.Lys225Asn Single submitter Currarino triad ⚠
- p.Lys225Glu Single submitter Inborn genetic diseases ⚠
- p.Lys300fs Single submitter
- p.Lys5Arg Single submitter Currarino triad ⚠
- p.Met221Lys Single submitter Currarino triad ⚠
- p.Met226Ile Single submitter Inborn genetic diseases
- p.Met294fs Single submitter
- p.Phe260Ile Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro119Ser Single submitter ⚠
- p.Pro119Thr Single submitter Currarino triad ⚠
- p.Pro153Leu Single submitter Currarino triad ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro194Arg Single submitter ⚠
- p.Pro194Ser Single submitter Currarino triad ⚠
- p.Pro244Ala Single submitter Inborn genetic diseases ⚠
- p.Pro328Leu Single submitter ⚠
- p.Pro336Leu Single submitter ⚠
- p.Pro339Ala Single submitter ⚠
- p.Pro339Arg Single submitter ⚠
- p.Pro356Ser Single submitter ⚠
- p.Pro369Arg Single submitter ⚠
- p.Pro369Thr Single submitter Currarino triad ⚠
- p.Pro390Leu Single submitter ⚠
- p.Pro392Ala Single submitter ⚠
- p.Pro392Ser Single submitter ⚠
- p.Pro398Ser Single submitter Currarino triad ⚠
- p.Pro400Ser Single submitter Currarino triad ⚠
- p.Pro60Arg Single submitter Inborn genetic diseases ⚠
- p.Pro65Arg Single submitter Inborn genetic diseases ⚠
- p.Pro66Arg Single submitter ⚠
- p.Pro66Ser Single submitter Currarino triad ⚠
- p.Pro69Leu Single submitter ⚠
- p.Pro69Ser Single submitter Currarino triad ⚠
- p.Pro78Leu Single submitter ⚠
- p.Pro80Ser Single submitter
- p.Ser185Leu Single submitter Inborn genetic diseases
- p.Ser277Leu Single submitter Inborn genetic diseases ⚠
- p.Ser277Trp Single submitter ⚠
- p.Ser33Leu Single submitter ⚠
- p.Ser375Thr Single submitter Currarino triad ⚠
- p.Ser381del Single submitter
- p.Ser384Cys Single submitter ⚠
- p.Ser385Leu Single submitter ⚠
- p.Ser395Gly Single submitter ⚠
- p.Ser79Leu Single submitter Inborn genetic diseases ⚠
- p.Ter402ProextTer? Single submitter
- p.Thr207Ala Single submitter Currarino triad ⚠
- p.Thr218Ile Single submitter ⚠
- p.Thr41Ile Single submitter ⚠
- p.Thr41Ser Single submitter Inborn genetic diseases ⚠
- p.Trp296Ter Single submitter
- p.Tyr265Phe Single submitter ⚠
- p.Val15Leu Single submitter Inborn genetic diseases
- p.Val274Met Single submitter Currarino triad ⚠
- p.Arg346Leu No assertion criteria ⚠
- p.Ile222Asn No assertion criteria MNX1-related disorder ⚠
- p.Leu73Pro No assertion criteria MNX1-related disorder ⚠