FAM120A — 146 ClinVar variants
All ClinVar germline FAM120A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 103 flagged for review →
27 Benign · 9 Likely benign · 110 Uncertain significance
Full FAM120A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 103
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.
- FAM120A p.Ala1022Ser Uncertain significance Single submitter
- FAM120A p.Ala1024Val Uncertain significance Single submitter
- FAM120A p.Ala1102Thr Uncertain significance Single submitter
- FAM120A p.Ala330Ser Uncertain significance Single submitter
- FAM120A p.Ala387Thr Uncertain significance Single submitter
- FAM120A p.Ala471Thr Uncertain significance Single submitter
- FAM120A p.Ala599Thr Uncertain significance Single submitter
- FAM120A p.Ala832Ser Uncertain significance Single submitter
- FAM120A p.Ala870Thr Uncertain significance Single submitter
- FAM120A p.Ala909Val Uncertain significance Single submitter
- FAM120A p.Arg1072Thr Uncertain significance Single submitter
- FAM120A p.Arg1104His Uncertain significance Single submitter
- FAM120A p.Arg36Gln Uncertain significance Single submitter
- FAM120A p.Arg38Gln Uncertain significance Single submitter
- FAM120A p.Arg850Lys Uncertain significance Single submitter
- FAM120A p.Arg908Cys Uncertain significance Single submitter
- FAM120A p.Arg964His Uncertain significance Single submitter
- FAM120A p.Arg984His Uncertain significance Single submitter
- FAM120A p.Asn1065Lys Uncertain significance Single submitter
- FAM120A p.Asn193Ser Uncertain significance Single submitter
- FAM120A p.Asn231Ile Uncertain significance Single submitter
- FAM120A p.Asn416Asp Uncertain significance Single submitter
- FAM120A p.Asn478Ser Uncertain significance Single submitter
- FAM120A p.Asp295Gly Uncertain significance Single submitter
- FAM120A p.Asp499Val Uncertain significance Single submitter
- FAM120A p.Gln1063His Uncertain significance Single submitter
- FAM120A p.Gln514Arg Uncertain significance Single submitter
- FAM120A p.Gln753Pro Uncertain significance Single submitter
- FAM120A p.Glu1057Lys Uncertain significance Single submitter
- FAM120A p.Gly1047Arg Uncertain significance Single submitter
- FAM120A p.Gly469Ala Uncertain significance Single submitter
- FAM120A p.Gly512Arg Uncertain significance Single submitter
- FAM120A p.Gly518Asp Uncertain significance Single submitter
- FAM120A p.His474Arg Uncertain significance Single submitter
- FAM120A p.Ile319Phe Uncertain significance Single submitter
- FAM120A p.Ile319Thr Uncertain significance Single submitter
- FAM120A p.Ile437Val Uncertain significance Single submitter
- FAM120A p.Ile572Val Uncertain significance Single submitter
- FAM120A p.Ile581Val Uncertain significance Single submitter
- FAM120A p.Ile587Val Uncertain significance Single submitter
- FAM120A p.Leu1049Val Uncertain significance Single submitter
- FAM120A p.Leu748Phe Uncertain significance Single submitter
- FAM120A p.Leu812Phe Uncertain significance Single submitter
- FAM120A p.Lys1086Glu Uncertain significance Single submitter
- FAM120A p.Lys224Arg Uncertain significance Single submitter
- FAM120A p.Lys479Arg Uncertain significance Single submitter
- FAM120A p.Lys502Thr Uncertain significance Single submitter
- FAM120A p.Met1043Thr Uncertain significance Single submitter
- FAM120A p.Met335Thr Uncertain significance Single submitter
- FAM120A p.Phe321Tyr Uncertain significance Single submitter
- FAM120A p.Pro1019Leu Uncertain significance Single submitter
- FAM120A p.Pro1074Leu Uncertain significance Single submitter
- FAM120A p.Pro388Leu Uncertain significance Single submitter
- FAM120A p.Pro394Ala Uncertain significance Single submitter
- FAM120A p.Pro400Leu Uncertain significance Single submitter
- FAM120A p.Pro402Leu Uncertain significance Single submitter
- FAM120A p.Pro858Leu Uncertain significance Single submitter
- FAM120A p.Pro867His Uncertain significance Single submitter
- FAM120A p.Pro867Leu Uncertain significance Single submitter
- FAM120A p.Pro872Leu Uncertain significance Single submitter
- FAM120A p.Pro939Ser Uncertain significance Single submitter
- FAM120A p.Ser1033Ala Uncertain significance Single submitter
- FAM120A p.Ser1038Thr Uncertain significance Single submitter
- FAM120A p.Ser1085Cys Uncertain significance Single submitter
- FAM120A p.Ser256Asn Uncertain significance Single submitter
- FAM120A p.Ser398Phe Uncertain significance Single submitter
- FAM120A p.Ser408Gly Uncertain significance Single submitter
- FAM120A p.Ser511Leu Uncertain significance Single submitter
- FAM120A p.Ser775Asn Uncertain significance Single submitter
- FAM120A p.Ser916Leu Uncertain significance Single submitter
- FAM120A p.Ser933Phe Uncertain significance Single submitter
- FAM120A p.Thr1068Met Uncertain significance Single submitter
- FAM120A p.Thr1087Met Uncertain significance Single submitter
- FAM120A p.Thr1090Ser Uncertain significance Single submitter
- FAM120A p.Thr296Ala Uncertain significance Single submitter
- FAM120A p.Thr407Met Uncertain significance Single submitter
- FAM120A p.Thr413Met Uncertain significance Single submitter
- FAM120A p.Thr428Met Uncertain significance Single submitter
- FAM120A p.Thr485Met Uncertain significance Single submitter
- FAM120A p.Thr854Ala Uncertain significance Single submitter
- FAM120A p.Tyr418His Uncertain significance Single submitter
- FAM120A p.Val281Ile Uncertain significance Single submitter
- FAM120A p.Val318Ile Uncertain significance Single submitter
- FAM120A p.Val448Met Uncertain significance Single submitter
- FAM120A p.Val526Ala Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- FAM120A p.Ala145Thr Uncertain significance Single submitter
- FAM120A p.Ala663Asp Uncertain significance Single submitter
- FAM120A p.Arg28Leu Uncertain significance Single submitter
- FAM120A p.Arg665Ser Uncertain significance Single submitter
- FAM120A p.Arg686Leu Uncertain significance Single submitter
- FAM120A p.Arg964Leu Uncertain significance Single submitter
- FAM120A p.Arg967Trp Uncertain significance Single submitter
- FAM120A p.Asn1089Lys Uncertain significance Single submitter
- FAM120A p.Asp316Glu Uncertain significance Single submitter
- FAM120A p.Glu750Lys Uncertain significance Single submitter
- FAM120A p.Gly944Glu Uncertain significance Single submitter
- FAM120A p.Gly966Arg Uncertain significance Single submitter
- FAM120A p.Met541Ile Uncertain significance Single submitter
- FAM120A p.Phe307Leu Uncertain significance Single submitter
- FAM120A p.Pro277Leu Uncertain significance Single submitter
- FAM120A p.Ser187Pro Uncertain significance Single submitter
- FAM120A p.Val48Met Uncertain significance Single submitter
- FAM120A p.Val714Met Uncertain significance Single submitter
All FAM120A variants
Benign 27
- c.1131+44G>C Multiple submitters
- c.1131+49C>T Multiple submitters
- c.1131+50G>A Multiple submitters
- c.1418+121T>C Multiple submitters
- c.1418+24G>A Multiple submitters
- c.1419-168C>T Multiple submitters
- c.1506+219C>T Multiple submitters
- c.1734+163A>T Multiple submitters
- c.1734+304A>G Multiple submitters
- c.2274+39C>T Multiple submitters
- c.474+192A>G Multiple submitters
- c.474+257G>A Multiple submitters
- c.804+111C>T Multiple submitters
- c.*296T>A Multiple submitters
- p.Gly386= Multiple submitters
- p.His254= Multiple submitters
- p.His447= Multiple submitters
- c.1418+233T>G Single submitter
- c.1419-206G>A Single submitter
- c.2159+229T>C Single submitter
- c.2160-278G>A Single submitter
- c.2484+270C>A Single submitter
- c.2669-155del Single submitter
- c.3046-155G>A Single submitter
- c.3046-169_3046-155del Single submitter
- c.805-171C>T Single submitter
- c.933+13dup Single submitter
Likely benign 9
- c.721+21A>T Single submitter
- p.Ala1071Thr Single submitter
- p.Ala870Val Single submitter
- p.Asn707Ser Single submitter
- p.Cys717= Single submitter
- p.Gly443Ser Single submitter
- p.Pro388= Single submitter
- p.Ser506= Single submitter
- p.Val842Ile Single submitter
Uncertain significance 110
- p.Ala1022Ser Single submitter ⚠
- p.Ala1024Val Single submitter ⚠
- p.Ala1102Thr Single submitter ⚠
- p.Ala145Thr Single submitter ⚠
- p.Ala330Ser Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala471Thr Single submitter ⚠
- p.Ala599Thr Single submitter ⚠
- p.Ala663Asp Single submitter ⚠
- p.Ala741Val Single submitter
- p.Ala832Ser Single submitter ⚠
- p.Ala870Thr Single submitter ⚠
- p.Ala909Val Single submitter ⚠
- p.Arg1072Thr Single submitter ⚠
- p.Arg1104His Single submitter ⚠
- p.Arg28Leu Single submitter ⚠
- p.Arg291His Single submitter
- p.Arg36Gln Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Arg665Ser Single submitter ⚠
- p.Arg686Leu Single submitter ⚠
- p.Arg696fs Single submitter
- p.Arg732Trp Single submitter
- p.Arg850Lys Single submitter ⚠
- p.Arg908Cys Single submitter ⚠
- p.Arg964His Single submitter ⚠
- p.Arg964Leu Single submitter ⚠
- p.Arg967Trp Single submitter ⚠
- p.Arg984His Single submitter ⚠
- p.Asn1065Lys Single submitter ⚠
- p.Asn1089Lys Single submitter ⚠
- p.Asn193Ser Single submitter ⚠
- p.Asn231Ile Single submitter ⚠
- p.Asn416Asp Single submitter ⚠
- p.Asn478Ser Single submitter ⚠
- p.Asp295Gly Single submitter ⚠
- p.Asp316Glu Single submitter ⚠
- p.Asp499Val Single submitter ⚠
- p.Gln1063His Single submitter ⚠
- p.Gln514Arg Single submitter ⚠
- p.Gln753Pro Single submitter ⚠
- p.Glu1057Lys Single submitter ⚠
- p.Glu750Lys Single submitter ⚠
- p.Gly1047Arg Single submitter ⚠
- p.Gly469Ala Single submitter ⚠
- p.Gly512Arg Single submitter ⚠
- p.Gly518Asp Single submitter ⚠
- p.Gly944Glu Single submitter ⚠
- p.Gly966Arg Single submitter ⚠
- p.His474Arg Single submitter ⚠
- p.Ile319Phe Single submitter ⚠
- p.Ile319Thr Single submitter ⚠
- p.Ile437Val Single submitter ⚠
- p.Ile572Val Single submitter ⚠
- p.Ile581Val Single submitter ⚠
- p.Ile587Val Single submitter ⚠
- p.Leu1049Val Single submitter ⚠
- p.Leu748Phe Single submitter ⚠
- p.Leu812Phe Single submitter ⚠
- p.Lys1086Glu Single submitter ⚠
- p.Lys224Arg Single submitter ⚠
- p.Lys479Arg Single submitter ⚠
- p.Lys502Thr Single submitter ⚠
- p.Met1043Thr Single submitter ⚠
- p.Met335Thr Single submitter ⚠
- p.Met541Ile Single submitter ⚠
- p.Phe307Leu Single submitter ⚠
- p.Phe321Tyr Single submitter ⚠
- p.Pro1019Leu Single submitter ⚠
- p.Pro1074Leu Single submitter ⚠
- p.Pro277Leu Single submitter ⚠
- p.Pro388Leu Single submitter ⚠
- p.Pro394Ala Single submitter ⚠
- p.Pro400Leu Single submitter ⚠
- p.Pro402Leu Single submitter ⚠
- p.Pro422Leu Single submitter
- p.Pro858Leu Single submitter ⚠
- p.Pro867His Single submitter ⚠
- p.Pro867Leu Single submitter ⚠
- p.Pro872Leu Single submitter ⚠
- p.Pro939Ser Single submitter ⚠
- p.Ser1033Ala Single submitter ⚠
- p.Ser1038Thr Single submitter ⚠
- p.Ser1085Cys Single submitter ⚠
- p.Ser187Pro Single submitter ⚠
- p.Ser256Asn Single submitter ⚠
- p.Ser398Phe Single submitter ⚠
- p.Ser408Gly Single submitter ⚠
- p.Ser457Tyr Single submitter
- p.Ser511Leu Single submitter ⚠
- p.Ser775Asn Single submitter ⚠
- p.Ser916Leu Single submitter ⚠
- p.Ser928fs Single submitter neurodevelopmental disorder
- p.Ser933Phe Single submitter ⚠
- p.Thr1068Met Single submitter ⚠
- p.Thr1087Met Single submitter ⚠
- p.Thr1090Ser Single submitter ⚠
- p.Thr296Ala Single submitter ⚠
- p.Thr407Met Single submitter ⚠
- p.Thr413Met Single submitter ⚠
- p.Thr428Met Single submitter ⚠
- p.Thr485Met Single submitter ⚠
- p.Thr854Ala Single submitter ⚠
- p.Tyr418His Single submitter ⚠
- p.Val281Ile Single submitter ⚠
- p.Val318Ile Single submitter ⚠
- p.Val448Met Single submitter ⚠
- p.Val48Met Single submitter ⚠
- p.Val526Ala Single submitter ⚠
- p.Val714Met Single submitter ⚠