AFF1 — 205 ClinVar variants
All ClinVar germline AFF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 185 flagged for review →
3 Benign · 1 Benign/Likely benign · 20 Likely benign · 181 Uncertain significance
Full AFF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 185
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 121
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AFF1 p.Ala1103Thr Uncertain significance Single submitter
- AFF1 p.Ala127Val Uncertain significance Single submitter
- AFF1 p.Ala143Thr Uncertain significance Single submitter
- AFF1 p.Ala200Val Uncertain significance Single submitter
- AFF1 p.Ala250Gly Uncertain significance Single submitter
- AFF1 p.Ala292Val Uncertain significance Single submitter
- AFF1 p.Ala584Val Uncertain significance Single submitter
- AFF1 p.Ala622Val Uncertain significance Single submitter
- AFF1 p.Ala689Val Uncertain significance Single submitter
- AFF1 p.Ala818Ser Uncertain significance Single submitter
- AFF1 p.Ala818Val Uncertain significance Single submitter
- AFF1 p.Arg1082His Uncertain significance Single submitter
- AFF1 p.Arg170His Uncertain significance Single submitter
- AFF1 p.Arg186Gln Uncertain significance Single submitter
- AFF1 p.Arg186Gly Uncertain significance Single submitter
- AFF1 p.Arg325Gln Uncertain significance Single submitter
- AFF1 p.Arg547Gln Uncertain significance Single submitter
- AFF1 p.Arg642Gly Uncertain significance Single submitter
- AFF1 p.Arg657Gln Uncertain significance Single submitter
- AFF1 p.Arg742His Uncertain significance Single submitter
- AFF1 p.Arg779Trp Uncertain significance Single submitter
- AFF1 p.Arg789Leu Uncertain significance Single submitter
- AFF1 p.Arg791Ser Uncertain significance Single submitter
- AFF1 p.Arg86Cys Uncertain significance Single submitter
- AFF1 p.Arg86His Uncertain significance Single submitter
- AFF1 p.Asn1194Ser Uncertain significance Single submitter
- AFF1 p.Asn16Ser Uncertain significance Single submitter
- AFF1 p.Asn502Lys Uncertain significance Single submitter
- AFF1 p.Asn699Asp Uncertain significance Single submitter
- AFF1 p.Asn913Asp Uncertain significance Single submitter
- AFF1 p.Asp169Asn Uncertain significance Single submitter
- AFF1 p.Asp169Gly Uncertain significance Single submitter
- AFF1 p.Asp398Asn Uncertain significance Single submitter
- AFF1 p.Cys592Tyr Uncertain significance Single submitter
- AFF1 p.Gln1050His Uncertain significance Single submitter
- AFF1 p.Gln294Leu Uncertain significance Single submitter
- AFF1 p.Gln350Pro Uncertain significance Single submitter
- AFF1 p.Gln611Glu Uncertain significance Single submitter
- AFF1 p.Gln797Pro Uncertain significance Single submitter
- AFF1 p.Gln843Arg Uncertain significance Single submitter
- AFF1 p.Gln969Lys Uncertain significance Single submitter
- AFF1 p.Glu322Asp Uncertain significance Single submitter
- AFF1 p.Glu449Gly Uncertain significance Single submitter
- AFF1 p.Glu537Ala Uncertain significance Single submitter
- AFF1 p.Glu583Lys Uncertain significance Single submitter
- AFF1 p.Glu631Lys Uncertain significance Single submitter
- AFF1 p.Gly159Arg Uncertain significance Single submitter
- AFF1 p.Gly190Val Uncertain significance Single submitter
- AFF1 p.Gly57Ser Uncertain significance Single submitter
- AFF1 p.Gly635Arg Uncertain significance Single submitter
- AFF1 p.Gly725Ser Uncertain significance Single submitter
- AFF1 p.Gly785Arg Uncertain significance Single submitter
- AFF1 p.Gly938Asp Uncertain significance Single submitter
- AFF1 p.Gly938Val Uncertain significance Single submitter
- AFF1 p.Gly941Arg Uncertain significance Single submitter
- AFF1 p.Gly960Glu Uncertain significance Single submitter
- AFF1 p.His119Arg Uncertain significance Single submitter
- AFF1 p.His165Leu Uncertain significance Single submitter
- AFF1 p.His382Arg Uncertain significance Single submitter
- AFF1 p.His472Leu Uncertain significance Single submitter
- AFF1 p.His707Arg Uncertain significance Single submitter
- AFF1 p.His707Gln Uncertain significance Single submitter
- AFF1 p.His721Arg Uncertain significance Single submitter
- AFF1 p.Ile381Val Uncertain significance Single submitter
- AFF1 p.Leu131Pro Uncertain significance Single submitter
- AFF1 p.Lys27Arg Uncertain significance Single submitter
- AFF1 p.Lys331Asn Uncertain significance Single submitter
- AFF1 p.Lys38Glu Uncertain significance Single submitter
- AFF1 p.Lys552Arg Uncertain significance Single submitter
- AFF1 p.Lys594Arg Uncertain significance Single submitter
- AFF1 p.Lys614Asn Uncertain significance Single submitter
- AFF1 p.Lys754Arg Uncertain significance Single submitter
- AFF1 p.Lys852Arg Uncertain significance Single submitter
- AFF1 p.Lys905Gln Uncertain significance Single submitter
- AFF1 p.Met1115Thr Uncertain significance Single submitter
- AFF1 p.Met347Ile Uncertain significance Single submitter
- AFF1 p.Met370Thr Uncertain significance Single submitter
- AFF1 p.Pro1114Ser Uncertain significance Single submitter
- AFF1 p.Pro126Ser Uncertain significance Single submitter
- AFF1 p.Pro249Ser Uncertain significance Single submitter
- AFF1 p.Pro337Ser Uncertain significance Single submitter
- AFF1 p.Pro348Ala Uncertain significance Single submitter
- AFF1 p.Pro348Ser Uncertain significance Single submitter
- AFF1 p.Pro452Ala Uncertain significance Single submitter
- AFF1 p.Pro461Ser Uncertain significance Single submitter
- AFF1 p.Pro539Arg Uncertain significance Single submitter
- AFF1 p.Pro571Thr Uncertain significance Single submitter
- AFF1 p.Pro650Leu Uncertain significance Single submitter
- AFF1 p.Pro668Ala Uncertain significance Single submitter
- AFF1 p.Pro672Arg Uncertain significance Single submitter
- AFF1 p.Pro672Leu Uncertain significance Single submitter
- AFF1 p.Pro672Ser Uncertain significance Single submitter
- AFF1 p.Pro686Ala Uncertain significance Single submitter
- AFF1 p.Pro712Ser Uncertain significance Single submitter
- AFF1 p.Pro764Ala Uncertain significance Single submitter
- AFF1 p.Pro765Gln Uncertain significance Single submitter
- AFF1 p.Pro765Leu Uncertain significance Single submitter
- AFF1 p.Ser1016Gly Uncertain significance Single submitter
- AFF1 p.Ser1024Thr Uncertain significance Single submitter
- AFF1 p.Ser1134Gly Uncertain significance Single submitter
- AFF1 p.Ser269Gly Uncertain significance Single submitter
- AFF1 p.Ser351Thr Uncertain significance Single submitter
- AFF1 p.Ser454Thr Uncertain significance Single submitter
- AFF1 p.Ser619Pro Uncertain significance Single submitter
- AFF1 p.Ser62Asn Uncertain significance Single submitter
- AFF1 p.Ser716Asn Uncertain significance Single submitter
- AFF1 p.Thr1049Ile Uncertain significance Single submitter
- AFF1 p.Thr328Ile Uncertain significance Single submitter
- AFF1 p.Thr481Ser Uncertain significance Single submitter
- AFF1 p.Thr507Ser Uncertain significance Single submitter
- AFF1 p.Thr728Ala Uncertain significance Single submitter
- AFF1 p.Thr857Arg Uncertain significance Single submitter
- AFF1 p.Thr943Ala Uncertain significance Single submitter
- AFF1 p.Tyr1023Phe Uncertain significance Single submitter
- AFF1 p.Tyr356Cys Uncertain significance Single submitter
- AFF1 p.Tyr639Cys Uncertain significance Single submitter
- AFF1 p.Val1122Ile Uncertain significance Single submitter
- AFF1 p.Val607Leu Uncertain significance Single submitter
- AFF1 p.Val877Leu Uncertain significance Single submitter
- AFF1 p.Val925Leu Uncertain significance Single submitter
-
AFF1 p.Pro532Ser
Uncertain significance
No assertion criteria
teratoma
Predictors split 64
The independent predictors disagree with each other — read with care.
- AFF1 p.Ser627Cys Likely benign Multiple submitters
- AFF1 p.Ala1047Val Uncertain significance Single submitter
- AFF1 p.Ala460Asp Uncertain significance Single submitter
- AFF1 p.Arg170Cys Uncertain significance Single submitter
- AFF1 p.Arg546Trp Uncertain significance Single submitter
- AFF1 p.Arg547Trp Uncertain significance Single submitter
- AFF1 p.Arg579Trp Uncertain significance Single submitter
- AFF1 p.Arg657Trp Uncertain significance Single submitter
- AFF1 p.Arg659Trp Uncertain significance Single submitter
- AFF1 p.Arg894Trp Uncertain significance Single submitter
- AFF1 p.Gln1147Pro Uncertain significance Single submitter
- AFF1 p.Glu365Ala Uncertain significance Single submitter
- AFF1 p.Glu72Gly Uncertain significance Single submitter
- AFF1 p.Glu826Lys Uncertain significance Single submitter
- AFF1 p.Glu870Lys Uncertain significance Single submitter
- AFF1 p.His804Tyr Uncertain significance Single submitter
- AFF1 p.Ile1006Thr Uncertain significance Single submitter
- AFF1 p.Leu1032Phe Uncertain significance Single submitter
- AFF1 p.Leu68Val Uncertain significance Single submitter
- AFF1 p.Leu872Phe Uncertain significance Single submitter
- AFF1 p.Lys678Gln Uncertain significance Single submitter
- AFF1 p.Lys75Arg Uncertain significance Single submitter
- AFF1 p.Lys856Glu Uncertain significance Single submitter
- AFF1 p.Met1037Val Uncertain significance Single submitter
- AFF1 p.Met1069Val Uncertain significance Single submitter
- AFF1 p.Met1115Lys Uncertain significance Single submitter
- AFF1 p.Met981Val Uncertain significance Single submitter
- AFF1 p.Phe1035Leu Uncertain significance Single submitter
- AFF1 p.Pro1109Leu Uncertain significance Single submitter
- AFF1 p.Pro212Arg Uncertain significance Single submitter
- AFF1 p.Pro512Leu Uncertain significance Single submitter
- AFF1 p.Pro545Leu Uncertain significance Single submitter
- AFF1 p.Pro672His Uncertain significance Single submitter
- AFF1 p.Pro758Leu Uncertain significance Single submitter
- AFF1 p.Pro884Leu Likely benign Single submitter
- AFF1 p.Pro97Leu Uncertain significance Single submitter
- AFF1 p.Ser1019Phe Uncertain significance Single submitter
- AFF1 p.Ser1024Cys Uncertain significance Single submitter
- AFF1 p.Ser1024Tyr Uncertain significance Single submitter
- AFF1 p.Ser1041Tyr Uncertain significance Single submitter
- AFF1 p.Ser1110Pro Uncertain significance Single submitter
- AFF1 p.Ser178Cys Uncertain significance Single submitter
- AFF1 p.Ser206Phe Uncertain significance Single submitter
- AFF1 p.Ser241Asn Likely benign Single submitter
- AFF1 p.Ser403Asn Uncertain significance Single submitter
- AFF1 p.Ser560Asn Uncertain significance Single submitter
- AFF1 p.Ser560Gly Likely benign Single submitter
- AFF1 p.Ser574Cys Uncertain significance Single submitter
- AFF1 p.Ser805Ile Uncertain significance Single submitter
- AFF1 p.Ser806Cys Uncertain significance Single submitter
- AFF1 p.Ser845Pro Uncertain significance Single submitter
- AFF1 p.Ser880Phe Uncertain significance Single submitter
- AFF1 p.Ser930Cys Uncertain significance Single submitter
- AFF1 p.Ser934Leu Uncertain significance Single submitter
- AFF1 p.Ser951Phe Uncertain significance Single submitter
- AFF1 p.Thr418Ile Uncertain significance Single submitter
- AFF1 p.Thr481Ile Uncertain significance Single submitter
- AFF1 p.Thr54Ile Uncertain significance Single submitter
- AFF1 p.Thr80Ile Uncertain significance Single submitter
- AFF1 p.Tyr15Cys Uncertain significance Single submitter
- AFF1 p.Val1188Met Uncertain significance Single submitter
- AFF1 p.Val468Met Uncertain significance Single submitter
- AFF1 p.Val607Ile Uncertain significance Single submitter
- AFF1 p.Val877Met Uncertain significance Single submitter
All AFF1 variants
Benign 3
- p.Ala40= Multiple submitters
- p.Pro393= Multiple submitters
- p.Val711Ile Multiple submitters
Benign/Likely benign 1
- c.1191+8C>T Multiple submitters
Likely benign 20
- p.Ser627Cys Multiple submitters ⚠
- p.Thr426= Multiple submitters
- p.Ala534Val Single submitter
- p.Ala696Thr Single submitter
- p.Ala800Thr Single submitter
- p.Arg590= Single submitter
- p.Asn913Ser Single submitter
- p.Asp189= Single submitter
- p.Gly177Ser Single submitter
- p.Gly239Ser Single submitter
- p.Ile221Val Single submitter
- p.Pro720Ser Single submitter
- p.Pro884Leu Single submitter ⚠
- p.Ser1121= Single submitter
- p.Ser195Leu Single submitter
- p.Ser241Asn Single submitter ⚠
- p.Ser560Gly Single submitter ⚠
- p.Tyr247Cys Single submitter
- p.Val736= Single submitter
- p.Val74Met Single submitter
Uncertain significance 181
- p.Ala1047Val Single submitter ⚠
- p.Ala1103Thr Single submitter ⚠
- p.Ala127Val Single submitter ⚠
- p.Ala143Thr Single submitter ⚠
- p.Ala200Val Single submitter ⚠
- p.Ala250Gly Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala460Asp Single submitter ⚠
- p.Ala584Val Single submitter ⚠
- p.Ala622Val Single submitter ⚠
- p.Ala689Val Single submitter ⚠
- p.Ala818Ser Single submitter ⚠
- p.Ala818Val Single submitter ⚠
- p.Arg1082His Single submitter ⚠
- p.Arg170Cys Single submitter ⚠
- p.Arg170His Single submitter ⚠
- p.Arg186Gln Single submitter ⚠
- p.Arg186Gly Single submitter ⚠
- p.Arg325Gln Single submitter ⚠
- p.Arg546Trp Single submitter ⚠
- p.Arg547Gln Single submitter ⚠
- p.Arg547Trp Single submitter ⚠
- p.Arg579Trp Single submitter ⚠
- p.Arg642Gly Single submitter ⚠
- p.Arg657Gln Single submitter ⚠
- p.Arg657Trp Single submitter ⚠
- p.Arg659Trp Single submitter ⚠
- p.Arg742His Single submitter ⚠
- p.Arg779Trp Single submitter ⚠
- p.Arg789Leu Single submitter ⚠
- p.Arg791Ser Single submitter ⚠
- p.Arg86Cys Single submitter ⚠
- p.Arg86His Single submitter ⚠
- p.Arg894Trp Single submitter ⚠
- p.Asn1194Ser Single submitter ⚠
- p.Asn16Ser Single submitter ⚠
- p.Asn502Lys Single submitter ⚠
- p.Asn699Asp Single submitter ⚠
- p.Asn913Asp Single submitter ⚠
- p.Asp169Asn Single submitter ⚠
- p.Asp169Gly Single submitter ⚠
- p.Asp398Asn Single submitter ⚠
- p.Cys592Tyr Single submitter ⚠
- p.Gln1050His Single submitter ⚠
- p.Gln1147Pro Single submitter ⚠
- p.Gln294Leu Single submitter ⚠
- p.Gln350Pro Single submitter ⚠
- p.Gln611Glu Single submitter ⚠
- p.Gln797Pro Single submitter ⚠
- p.Gln843Arg Single submitter ⚠
- p.Gln969Lys Single submitter ⚠
- p.Glu322Asp Single submitter ⚠
- p.Glu365Ala Single submitter ⚠
- p.Glu449Gly Single submitter ⚠
- p.Glu537Ala Single submitter ⚠
- p.Glu583Lys Single submitter ⚠
- p.Glu631Lys Single submitter ⚠
- p.Glu72Gly Single submitter ⚠
- p.Glu826Lys Single submitter ⚠
- p.Glu870Lys Single submitter ⚠
- p.Gly159Arg Single submitter ⚠
- p.Gly190Val Single submitter ⚠
- p.Gly57Ser Single submitter ⚠
- p.Gly635Arg Single submitter ⚠
- p.Gly725Ser Single submitter ⚠
- p.Gly785Arg Single submitter ⚠
- p.Gly938Asp Single submitter ⚠
- p.Gly938Val Single submitter ⚠
- p.Gly941Arg Single submitter ⚠
- p.Gly960Glu Single submitter ⚠
- p.His119Arg Single submitter ⚠
- p.His165Leu Single submitter ⚠
- p.His382Arg Single submitter ⚠
- p.His472Leu Single submitter ⚠
- p.His707Arg Single submitter ⚠
- p.His707Gln Single submitter ⚠
- p.His721Arg Single submitter ⚠
- p.His804Tyr Single submitter ⚠
- p.Ile1006Thr Single submitter ⚠
- p.Ile381Val Single submitter ⚠
- p.Leu1032Phe Single submitter ⚠
- p.Leu131Pro Single submitter ⚠
- p.Leu68Val Single submitter ⚠
- p.Leu872Phe Single submitter ⚠
- p.Lys27Arg Single submitter ⚠
- p.Lys331Asn Single submitter ⚠
- p.Lys38Glu Single submitter ⚠
- p.Lys552Arg Single submitter ⚠
- p.Lys594Arg Single submitter ⚠
- p.Lys614Asn Single submitter ⚠
- p.Lys678Gln Single submitter ⚠
- p.Lys754Arg Single submitter ⚠
- p.Lys75Arg Single submitter ⚠
- p.Lys852Arg Single submitter ⚠
- p.Lys856Glu Single submitter ⚠
- p.Lys905Gln Single submitter ⚠
- p.Met1037Val Single submitter ⚠
- p.Met1069Val Single submitter ⚠
- p.Met1115Lys Single submitter ⚠
- p.Met1115Thr Single submitter ⚠
- p.Met347Ile Single submitter ⚠
- p.Met370Thr Single submitter ⚠
- p.Met981Val Single submitter ⚠
- p.Phe1035Leu Single submitter ⚠
- p.Pro1109Leu Single submitter ⚠
- p.Pro1114Ser Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Pro212Arg Single submitter ⚠
- p.Pro249Ser Single submitter ⚠
- p.Pro337Ser Single submitter ⚠
- p.Pro348Ala Single submitter ⚠
- p.Pro348Ser Single submitter ⚠
- p.Pro452Ala Single submitter ⚠
- p.Pro461Ser Single submitter ⚠
- p.Pro512Leu Single submitter ⚠
- p.Pro539Arg Single submitter ⚠
- p.Pro545Leu Single submitter ⚠
- p.Pro571Thr Single submitter ⚠
- p.Pro650Leu Single submitter ⚠
- p.Pro668Ala Single submitter ⚠
- p.Pro672Arg Single submitter ⚠
- p.Pro672His Single submitter ⚠
- p.Pro672Leu Single submitter ⚠
- p.Pro672Ser Single submitter ⚠
- p.Pro686Ala Single submitter ⚠
- p.Pro712Ser Single submitter ⚠
- p.Pro758Leu Single submitter ⚠
- p.Pro764Ala Single submitter ⚠
- p.Pro765Gln Single submitter ⚠
- p.Pro765Leu Single submitter ⚠
- p.Pro97Leu Single submitter ⚠
- p.Ser1016Gly Single submitter ⚠
- p.Ser1019Phe Single submitter ⚠
- p.Ser1024Cys Single submitter ⚠
- p.Ser1024Thr Single submitter ⚠
- p.Ser1024Tyr Single submitter ⚠
- p.Ser1041Tyr Single submitter ⚠
- p.Ser1110Pro Single submitter ⚠
- p.Ser1134Gly Single submitter ⚠
- p.Ser178Cys Single submitter ⚠
- p.Ser206Phe Single submitter ⚠
- p.Ser269Gly Single submitter ⚠
- p.Ser351Thr Single submitter ⚠
- p.Ser403Asn Single submitter ⚠
- p.Ser454Thr Single submitter ⚠
- p.Ser560Asn Single submitter ⚠
- p.Ser574Cys Single submitter ⚠
- p.Ser619Pro Single submitter ⚠
- p.Ser62Asn Single submitter ⚠
- p.Ser716Asn Single submitter ⚠
- p.Ser805Ile Single submitter ⚠
- p.Ser806Cys Single submitter ⚠
- p.Ser845Pro Single submitter ⚠
- p.Ser880Phe Single submitter ⚠
- p.Ser930Cys Single submitter ⚠
- p.Ser934Leu Single submitter ⚠
- p.Ser951Phe Single submitter ⚠
- p.Thr1049Ile Single submitter ⚠
- p.Thr328Ile Single submitter ⚠
- p.Thr418Ile Single submitter ⚠
- p.Thr481Ile Single submitter ⚠
- p.Thr481Ser Single submitter ⚠
- p.Thr507Ser Single submitter ⚠
- p.Thr54Ile Single submitter ⚠
- p.Thr728Ala Single submitter ⚠
- p.Thr80Ile Single submitter ⚠
- p.Thr857Arg Single submitter ⚠
- p.Thr943Ala Single submitter ⚠
- p.Tyr1023Phe Single submitter ⚠
- p.Tyr15Cys Single submitter ⚠
- p.Tyr356Cys Single submitter ⚠
- p.Tyr639Cys Single submitter ⚠
- p.Val1122Ile Single submitter ⚠
- p.Val1188Met Single submitter ⚠
- p.Val468Met Single submitter ⚠
- p.Val607Ile Single submitter ⚠
- p.Val607Leu Single submitter ⚠
- p.Val877Leu Single submitter ⚠
- p.Val877Met Single submitter ⚠
- p.Val925Leu Single submitter ⚠
- p.Pro532Ser No assertion criteria teratoma ⚠