MDFIC — 61 ClinVar variants
All ClinVar germline MDFIC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 8 Likely benign · 48 Uncertain significance
Full MDFIC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 38
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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MDFIC p.Phe244Leu
Uncertain significance
Multiple submitters
lymphatic malformation 12
-
MDFIC p.Ala153Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Ala225Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Arg121Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Arg121His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Arg77Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Asn105Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Asn64Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Asp42Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Asp42Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Asp58Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Cys192Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Cys201Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Cys203Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Cys232Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Cys236Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Gln31Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Glu178Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Glu207Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Glu91Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Gly102Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Gly106Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Gly106Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Gly193Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Gly94Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Gly99Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Ile185Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Ile43Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Ile43Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Ile71Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Met131Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Met208Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Met56Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Pro126Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Pro215Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Ser149Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Ser156Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MDFIC p.Thr101Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All MDFIC variants
Pathogenic 3
- p.Met131fs Multiple submitters lymphatic malformation 12
- p.Gly63Ter No assertion criteria lymphatic malformation 12
- p.Leu123_Ser124insTer No assertion criteria lymphatic malformation 12
Likely pathogenic 2
- p.Ile194_Cys195insTer Multiple submitters lymphatic malformation 12
- p.Gln86Ter Single submitter lymphatic malformation 12
Likely benign 8
- p.Gly116Arg Multiple submitters
- p.Ser60Phe Multiple submitters
- p.Ser66= Multiple submitters
- c.-184G>C Single submitter Inborn genetic diseases
- p.Ala118Thr Single submitter Inborn genetic diseases
- p.Ile93Thr Single submitter Inborn genetic diseases
- p.Phe179= Single submitter
- p.Ser156= Single submitter
Uncertain significance 48
- p.Phe244Leu Multiple submitters lymphatic malformation 12 ⚠
- c.-188G>C Single submitter Inborn genetic diseases
- c.-246C>T Single submitter Inborn genetic diseases
- c.-24G>T Single submitter Inborn genetic diseases
- c.-269T>A Single submitter Inborn genetic diseases
- c.-303G>A Single submitter Inborn genetic diseases
- c.-308C>A Single submitter Inborn genetic diseases
- c.-309G>A Single submitter Inborn genetic diseases
- c.-317T>A Single submitter Inborn genetic diseases
- c.-98G>T Single submitter Inborn genetic diseases
- p.Ala153Thr Single submitter Inborn genetic diseases ⚠
- p.Ala225Asp Single submitter Inborn genetic diseases ⚠
- p.Arg121Cys Single submitter Inborn genetic diseases ⚠
- p.Arg121His Single submitter Inborn genetic diseases ⚠
- p.Arg77Cys Single submitter Inborn genetic diseases ⚠
- p.Asn105Ser Single submitter Inborn genetic diseases ⚠
- p.Asn64Asp Single submitter Inborn genetic diseases ⚠
- p.Asp42Ala Single submitter Inborn genetic diseases ⚠
- p.Asp42Gly Single submitter Inborn genetic diseases ⚠
- p.Asp58Gly Single submitter Inborn genetic diseases ⚠
- p.Cys192Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys201Arg Single submitter Inborn genetic diseases ⚠
- p.Cys203Ser Single submitter Inborn genetic diseases ⚠
- p.Cys232Phe Single submitter Inborn genetic diseases ⚠
- p.Cys236Phe Single submitter Inborn genetic diseases ⚠
- p.Gln31Arg Single submitter Inborn genetic diseases ⚠
- p.Glu178Lys Single submitter Inborn genetic diseases ⚠
- p.Glu207Lys Single submitter Inborn genetic diseases ⚠
- p.Glu91Lys Single submitter Inborn genetic diseases ⚠
- p.Gly102Cys Single submitter Inborn genetic diseases ⚠
- p.Gly106Glu Single submitter Inborn genetic diseases ⚠
- p.Gly106Val Single submitter Inborn genetic diseases ⚠
- p.Gly193Asp Single submitter Inborn genetic diseases ⚠
- p.Gly94Asp Single submitter Inborn genetic diseases ⚠
- p.Gly99Arg Single submitter Inborn genetic diseases ⚠
- p.Ile185Val Single submitter Inborn genetic diseases ⚠
- p.Ile43Met Single submitter Inborn genetic diseases ⚠
- p.Ile43Val Single submitter Inborn genetic diseases ⚠
- p.Ile71Phe Single submitter Inborn genetic diseases ⚠
- p.Met131Leu Single submitter Inborn genetic diseases ⚠
- p.Met208Lys Single submitter Inborn genetic diseases ⚠
- p.Met56Lys Single submitter Inborn genetic diseases ⚠
- p.Pro126Ser Single submitter Inborn genetic diseases ⚠
- p.Pro215Ser Single submitter Inborn genetic diseases ⚠
- p.Ser128Phe Single submitter Inborn genetic diseases
- p.Ser149Asn Single submitter Inborn genetic diseases ⚠
- p.Ser156Pro Single submitter Inborn genetic diseases ⚠
- p.Thr101Ile Single submitter Inborn genetic diseases ⚠