HGFAC — 178 ClinVar variants
All ClinVar germline HGFAC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →
13 Likely benign · 165 Uncertain significance
Full HGFAC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 166
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 85
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HGFAC p.Ala268Ser Uncertain significance Single submitter
- HGFAC p.Ala274Thr Uncertain significance Single submitter
- HGFAC p.Ala328Val Uncertain significance Single submitter
- HGFAC p.Ala356Val Uncertain significance Single submitter
- HGFAC p.Ala424Pro Uncertain significance Single submitter
- HGFAC p.Ala446Thr Uncertain significance Single submitter
- HGFAC p.Ala538Glu Uncertain significance Single submitter
- HGFAC p.Arg109Ser Uncertain significance Single submitter
- HGFAC p.Arg113His Uncertain significance Single submitter
- HGFAC p.Arg190Gln Uncertain significance Single submitter
- HGFAC p.Arg207His Uncertain significance Single submitter
- HGFAC p.Arg219Cys Uncertain significance Single submitter
- HGFAC p.Arg241Gln Uncertain significance Single submitter
- HGFAC p.Arg276Gln Uncertain significance Single submitter
- HGFAC p.Arg295Ser Uncertain significance Single submitter
- HGFAC p.Arg31Gln Uncertain significance Single submitter
- HGFAC p.Arg363His Uncertain significance Single submitter
- HGFAC p.Arg391Leu Uncertain significance Single submitter
- HGFAC p.Arg3Cys Uncertain significance Single submitter
- HGFAC p.Arg405Gln Uncertain significance Single submitter
- HGFAC p.Arg555Gln Uncertain significance Single submitter
- HGFAC p.Arg624Gln Uncertain significance Single submitter
- HGFAC p.Arg646Gln Uncertain significance Single submitter
- HGFAC p.Asp204His Uncertain significance Single submitter
- HGFAC p.Asp313Asn Uncertain significance Single submitter
- HGFAC p.Asp472Glu Uncertain significance Single submitter
- HGFAC p.Asp497Asn Uncertain significance Single submitter
- HGFAC p.Asp497Glu Uncertain significance Single submitter
- HGFAC p.Asp508Asn Uncertain significance Single submitter
- HGFAC p.Asp508Gly Uncertain significance Single submitter
- HGFAC p.Asp544Glu Uncertain significance Single submitter
- HGFAC p.Asp564Asn Uncertain significance Single submitter
- HGFAC p.Asp576Ala Uncertain significance Single submitter
- HGFAC p.Asp576Asn Uncertain significance Single submitter
- HGFAC p.Asp597Asn Uncertain significance Single submitter
- HGFAC p.Cys164Ser Uncertain significance Single submitter
- HGFAC p.Cys237Tyr Uncertain significance Single submitter
- HGFAC p.Cys394Phe Uncertain significance Single submitter
- HGFAC p.Glu385Lys Uncertain significance Single submitter
- HGFAC p.Gly115Arg Uncertain significance Single submitter
- HGFAC p.Gly173Val Uncertain significance Single submitter
- HGFAC p.Gly198Ser Uncertain significance Single submitter
- HGFAC p.Gly213Trp Uncertain significance Single submitter
- HGFAC p.Gly232Glu Uncertain significance Single submitter
- HGFAC p.Gly331Asp Uncertain significance Single submitter
- HGFAC p.Gly333Asp Uncertain significance Single submitter
- HGFAC p.Gly390Glu Uncertain significance Single submitter
- HGFAC p.Gly390Val Uncertain significance Single submitter
- HGFAC p.Gly395Val Uncertain significance Single submitter
- HGFAC p.Gly417Ser Uncertain significance Single submitter
- HGFAC p.Gly434Arg Uncertain significance Single submitter
- HGFAC p.Gly599Val Uncertain significance Single submitter
- HGFAC p.Gly623Arg Uncertain significance Single submitter
- HGFAC p.His419Gln Uncertain significance Single submitter
- HGFAC p.Ile520Thr Uncertain significance Single submitter
- HGFAC p.Ile520Val Uncertain significance Single submitter
- HGFAC p.Ile537Thr Uncertain significance Single submitter
- HGFAC p.Leu101Val Uncertain significance Single submitter
- HGFAC p.Leu436Pro Uncertain significance Single submitter
- HGFAC p.Leu554Pro Uncertain significance Single submitter
- HGFAC p.Leu582Arg Uncertain significance Single submitter
- HGFAC p.Phe231Val Uncertain significance Single submitter
- HGFAC p.Pro111Ala Uncertain significance Single submitter
- HGFAC p.Pro14Ala Uncertain significance Single submitter
- HGFAC p.Pro181Leu Uncertain significance Single submitter
- HGFAC p.Pro341Leu Uncertain significance Single submitter
- HGFAC p.Pro347Leu Uncertain significance Single submitter
- HGFAC p.Pro493Ser Uncertain significance Single submitter
- HGFAC p.Pro86Arg Uncertain significance Single submitter
- HGFAC p.Ser124Leu Uncertain significance Single submitter
- HGFAC p.Ser299Gly Uncertain significance Single submitter
- HGFAC p.Ser435Arg Uncertain significance Single submitter
- HGFAC p.Ser444Leu Uncertain significance Single submitter
- HGFAC p.Ser457Arg Uncertain significance Single submitter
- HGFAC p.Ser514Leu Uncertain significance Single submitter
- HGFAC p.Ser591Ala Uncertain significance Single submitter
- HGFAC p.Thr178Asn Uncertain significance Single submitter
- HGFAC p.Thr439Ser Uncertain significance Single submitter
- HGFAC p.Thr57Ser Uncertain significance Single submitter
- HGFAC p.Trp421Cys Uncertain significance Single submitter
- HGFAC p.Trp618Arg Uncertain significance Single submitter
- HGFAC p.Tyr426Phe Uncertain significance Single submitter
- HGFAC p.Val297Leu Uncertain significance Single submitter
- HGFAC p.Val324Leu Uncertain significance Single submitter
- HGFAC p.Val473Met Uncertain significance Single submitter
Predictors split 81
The independent predictors disagree with each other — read with care.
- HGFAC p.Ala121Pro Uncertain significance Single submitter
- HGFAC p.Ala327Val Uncertain significance Single submitter
- HGFAC p.Ala446Ser Uncertain significance Single submitter
- HGFAC p.Ala538Val Uncertain significance Single submitter
- HGFAC p.Ala593Thr Uncertain significance Single submitter
- HGFAC p.Arg113Cys Uncertain significance Single submitter
- HGFAC p.Arg113Gly Uncertain significance Single submitter
- HGFAC p.Arg117Cys Uncertain significance Single submitter
- HGFAC p.Arg141Trp Uncertain significance Single submitter
- HGFAC p.Arg216Cys Uncertain significance Single submitter
- HGFAC p.Arg234Leu Uncertain significance Single submitter
- HGFAC p.Arg276Trp Uncertain significance Single submitter
- HGFAC p.Arg285His Uncertain significance Single submitter
- HGFAC p.Arg295His Uncertain significance Single submitter
- HGFAC p.Arg31Trp Uncertain significance Single submitter
- HGFAC p.Arg363Cys Uncertain significance Single submitter
- HGFAC p.Arg391Cys Uncertain significance Single submitter
- HGFAC p.Arg405Trp Uncertain significance Single submitter
- HGFAC p.Arg455Gly Uncertain significance Single submitter
- HGFAC p.Arg469Cys Uncertain significance Single submitter
- HGFAC p.Arg502Trp Uncertain significance Single submitter
- HGFAC p.Arg513Gly Uncertain significance Single submitter
- HGFAC p.Arg513His Uncertain significance Single submitter
- HGFAC p.Arg555Trp Uncertain significance Single submitter
- HGFAC p.Arg633His Uncertain significance Single submitter
- HGFAC p.Arg644Trp Uncertain significance Single submitter
- HGFAC p.Arg650Trp Uncertain significance Single submitter
- HGFAC p.Asn171Ser Uncertain significance Single submitter
- HGFAC p.Asn468Ser Uncertain significance Single submitter
- HGFAC p.Asn580Ser Uncertain significance Single submitter
- HGFAC p.Asp140Glu Uncertain significance Single submitter
- HGFAC p.Glu103Lys Uncertain significance Single submitter
- HGFAC p.Glu229Asp Uncertain significance Single submitter
- HGFAC p.Gly126Ser Uncertain significance Single submitter
- HGFAC p.Gly15Glu Uncertain significance Single submitter
- HGFAC p.Gly194Ser Uncertain significance Single submitter
- HGFAC p.Gly434Ala Uncertain significance Single submitter
- HGFAC p.Gly526Ser Likely benign Single submitter
- HGFAC p.Ile259Met Uncertain significance Single submitter
- HGFAC p.Ile479Thr Uncertain significance Single submitter
- HGFAC p.Ile483Met Uncertain significance Single submitter
- HGFAC p.Ile537Met Uncertain significance Single submitter
- HGFAC p.Ile616Thr Uncertain significance Single submitter
- HGFAC p.Leu21Phe Uncertain significance Single submitter
- HGFAC p.Leu22Phe Uncertain significance Single submitter
- HGFAC p.Leu25Gln Uncertain significance Single submitter
- HGFAC p.Leu26Pro Uncertain significance Single submitter
- HGFAC p.Leu487Pro Uncertain significance Single submitter
- HGFAC p.Leu582Phe Uncertain significance Single submitter
- HGFAC p.Leu83Phe Uncertain significance Single submitter
- HGFAC p.Pro153Leu Uncertain significance Single submitter
- HGFAC p.Pro30Leu Uncertain significance Single submitter
- HGFAC p.Pro453Thr Uncertain significance Single submitter
- HGFAC p.Pro56Leu Uncertain significance Single submitter
- HGFAC p.Pro570Ser Uncertain significance Single submitter
- HGFAC p.Pro648Ser Uncertain significance Single submitter
- HGFAC p.Pro73Leu Uncertain significance Single submitter
- HGFAC p.Ser166Cys Uncertain significance Single submitter
- HGFAC p.Ser303Leu Uncertain significance Single submitter
- HGFAC p.Ser412Phe Uncertain significance Single submitter
- HGFAC p.Ser450Cys Uncertain significance Single submitter
- HGFAC p.Ser457Asn Uncertain significance Single submitter
- HGFAC p.Ser489Leu Uncertain significance Single submitter
- HGFAC p.Ser548Asn Uncertain significance Single submitter
- HGFAC p.Ser62Phe Uncertain significance Single submitter
- HGFAC p.Thr135Ile Uncertain significance Single submitter
- HGFAC p.Thr135Pro Uncertain significance Single submitter
- HGFAC p.Thr240Ile Uncertain significance Single submitter
- HGFAC p.Thr255Asn Uncertain significance Single submitter
- HGFAC p.Thr300Ile Uncertain significance Single submitter
- HGFAC p.Thr42Met Uncertain significance Single submitter
- HGFAC p.Thr471Met Uncertain significance Single submitter
- HGFAC p.Thr474Met Uncertain significance Single submitter
- HGFAC p.Thr632Ser Uncertain significance Single submitter
- HGFAC p.Thr70Ile Uncertain significance Single submitter
- HGFAC p.Tyr294Phe Uncertain significance Single submitter
- HGFAC p.Val149Met Uncertain significance Single submitter
- HGFAC p.Val220Met Uncertain significance Single submitter
- HGFAC p.Val225Glu Uncertain significance Single submitter
- HGFAC p.Val266Met Uncertain significance Single submitter
- HGFAC p.Val547Met Uncertain significance Single submitter
All HGFAC variants
Likely benign 13
- p.Ala326Thr Single submitter
- p.Ala51Val Single submitter
- p.Arg221His Single submitter
- p.Arg391His Single submitter
- p.Asn177Ser Single submitter
- p.Asp429Asn Single submitter
- p.Gly39Arg Single submitter
- p.Gly526Ser Single submitter ⚠
- p.Leu161fs Single submitter
- p.Pro13Ser Single submitter
- p.Pro484= Single submitter
- p.Pro84Arg Single submitter
- p.Ser568= Single submitter
Uncertain significance 165
- p.Ala121Pro Single submitter ⚠
- p.Ala268Ser Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Ala327Val Single submitter ⚠
- p.Ala328Val Single submitter ⚠
- p.Ala356Val Single submitter ⚠
- p.Ala424Pro Single submitter ⚠
- p.Ala446Ser Single submitter ⚠
- p.Ala446Thr Single submitter ⚠
- p.Ala538Glu Single submitter ⚠
- p.Ala538Val Single submitter ⚠
- p.Ala593Thr Single submitter ⚠
- p.Arg109Ser Single submitter ⚠
- p.Arg113Cys Single submitter ⚠
- p.Arg113Gly Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg141Trp Single submitter ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg207His Single submitter ⚠
- p.Arg216Cys Single submitter ⚠
- p.Arg219Cys Single submitter ⚠
- p.Arg234Leu Single submitter ⚠
- p.Arg241Gln Single submitter ⚠
- p.Arg276Gln Single submitter ⚠
- p.Arg276Trp Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg295His Single submitter ⚠
- p.Arg295Ser Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg31Trp Single submitter ⚠
- p.Arg363Cys Single submitter ⚠
- p.Arg363His Single submitter ⚠
- p.Arg391Cys Single submitter ⚠
- p.Arg391Leu Single submitter ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg405Gln Single submitter ⚠
- p.Arg405Trp Single submitter ⚠
- p.Arg455Gly Single submitter ⚠
- p.Arg469Cys Single submitter ⚠
- p.Arg502Trp Single submitter ⚠
- p.Arg513Gly Single submitter ⚠
- p.Arg513His Single submitter ⚠
- p.Arg555Gln Single submitter ⚠
- p.Arg555Trp Single submitter ⚠
- p.Arg624Gln Single submitter ⚠
- p.Arg633His Single submitter ⚠
- p.Arg644Trp Single submitter ⚠
- p.Arg646Gln Single submitter ⚠
- p.Arg650Trp Single submitter ⚠
- p.Asn171Ser Single submitter ⚠
- p.Asn468Ser Single submitter ⚠
- p.Asn580Ser Single submitter ⚠
- p.Asp140Glu Single submitter ⚠
- p.Asp204His Single submitter ⚠
- p.Asp313Asn Single submitter ⚠
- p.Asp472Glu Single submitter ⚠
- p.Asp497Asn Single submitter ⚠
- p.Asp497Glu Single submitter ⚠
- p.Asp508Asn Single submitter ⚠
- p.Asp508Gly Single submitter ⚠
- p.Asp544Glu Single submitter ⚠
- p.Asp564Asn Single submitter ⚠
- p.Asp576Ala Single submitter ⚠
- p.Asp576Asn Single submitter ⚠
- p.Asp597Asn Single submitter ⚠
- p.Cys164Ser Single submitter ⚠
- p.Cys237Tyr Single submitter ⚠
- p.Cys394Phe Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu229Asp Single submitter ⚠
- p.Glu385Lys Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.Gly126Ser Single submitter ⚠
- p.Gly15Glu Single submitter ⚠
- p.Gly173Val Single submitter ⚠
- p.Gly194Ser Single submitter ⚠
- p.Gly198Ser Single submitter ⚠
- p.Gly213Trp Single submitter ⚠
- p.Gly232Glu Single submitter ⚠
- p.Gly331Asp Single submitter ⚠
- p.Gly333Asp Single submitter ⚠
- p.Gly390Glu Single submitter ⚠
- p.Gly390Val Single submitter ⚠
- p.Gly395Val Single submitter ⚠
- p.Gly417Ser Single submitter ⚠
- p.Gly434Ala Single submitter ⚠
- p.Gly434Arg Single submitter ⚠
- p.Gly599Val Single submitter ⚠
- p.Gly623Arg Single submitter ⚠
- p.His419Gln Single submitter ⚠
- p.Ile259Met Single submitter ⚠
- p.Ile479Thr Single submitter ⚠
- p.Ile483Met Single submitter ⚠
- p.Ile520Thr Single submitter ⚠
- p.Ile520Val Single submitter ⚠
- p.Ile537Met Single submitter ⚠
- p.Ile537Thr Single submitter ⚠
- p.Ile616Thr Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu21Phe Single submitter ⚠
- p.Leu22Phe Single submitter ⚠
- p.Leu25Gln Single submitter ⚠
- p.Leu26Pro Single submitter ⚠
- p.Leu436Pro Single submitter ⚠
- p.Leu487Pro Single submitter ⚠
- p.Leu554Pro Single submitter ⚠
- p.Leu582Arg Single submitter ⚠
- p.Leu582Phe Single submitter ⚠
- p.Leu83Phe Single submitter ⚠
- p.Phe231Val Single submitter ⚠
- p.Pro111Ala Single submitter ⚠
- p.Pro14Ala Single submitter ⚠
- p.Pro153Leu Single submitter ⚠
- p.Pro181Leu Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro341Leu Single submitter ⚠
- p.Pro347Leu Single submitter ⚠
- p.Pro453Thr Single submitter ⚠
- p.Pro493Ser Single submitter ⚠
- p.Pro56Leu Single submitter ⚠
- p.Pro570Ser Single submitter ⚠
- p.Pro648Ser Single submitter ⚠
- p.Pro73Leu Single submitter ⚠
- p.Pro86Arg Single submitter ⚠
- p.Ser124Leu Single submitter ⚠
- p.Ser166Cys Single submitter ⚠
- p.Ser299Gly Single submitter ⚠
- p.Ser303Leu Single submitter ⚠
- p.Ser412Phe Single submitter ⚠
- p.Ser435Arg Single submitter ⚠
- p.Ser444Leu Single submitter ⚠
- p.Ser450Cys Single submitter ⚠
- p.Ser457Arg Single submitter ⚠
- p.Ser457Asn Single submitter ⚠
- p.Ser489Leu Single submitter ⚠
- p.Ser514Leu Single submitter ⚠
- p.Ser548Asn Single submitter ⚠
- p.Ser591Ala Single submitter ⚠
- p.Ser62Phe Single submitter ⚠
- p.Thr135Ile Single submitter ⚠
- p.Thr135Pro Single submitter ⚠
- p.Thr178Asn Single submitter ⚠
- p.Thr240Ile Single submitter ⚠
- p.Thr255Asn Single submitter ⚠
- p.Thr300Ile Single submitter ⚠
- p.Thr42Met Single submitter ⚠
- p.Thr439Ser Single submitter ⚠
- p.Thr471Met Single submitter ⚠
- p.Thr474Met Single submitter ⚠
- p.Thr57Ser Single submitter ⚠
- p.Thr632Ser Single submitter ⚠
- p.Thr70Ile Single submitter ⚠
- p.Trp421Cys Single submitter ⚠
- p.Trp618Arg Single submitter ⚠
- p.Tyr294Phe Single submitter ⚠
- p.Tyr426Phe Single submitter ⚠
- p.Val149Met Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val225Glu Single submitter ⚠
- p.Val266Met Single submitter ⚠
- p.Val297Leu Single submitter ⚠
- p.Val324Leu Single submitter ⚠
- p.Val473Met Single submitter ⚠
- p.Val547Met Single submitter ⚠