AFF2 — 409 ClinVar variants
All ClinVar germline AFF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →
8 Pathogenic · 11 Likely pathogenic · 13 Conflicting · 11 Benign · 9 Benign/Likely benign · 76 Likely benign · 281 Uncertain significance
Full AFF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 283
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AFF2 p.Cys962Tyr
Likely pathogenic
Single submitter
FRAXE intellectual disability
- AFF2 p.Thr1043Met Likely pathogenic No assertion criteria
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AFF2 p.Ala245Thr
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Arg161Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Arg514His
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Arg514Pro
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Ile301Val
Conflicting
Single submitter
FRAXE intellectual disability
-
AFF2 p.Ile711Thr
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Leu1034Ile
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Pro936Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Ser969Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 178
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 178
-
AFF2 p.Ala1197Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF2 p.Ala171Pro Uncertain significance Multiple submitters
-
AFF2 p.Arg1238Cys
Uncertain significance
Multiple submitters
FRAXE intellectual disability
-
AFF2 p.Arg1295Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF2 p.Asn77Ile Uncertain significance Multiple submitters
-
AFF2 p.Asp187Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Gln205Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Glu489Asp
Uncertain significance
Multiple submitters
FRAXE intellectual disability
-
AFF2 p.Gly482Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Gly740Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.His366Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF2 p.Ile309Thr Uncertain significance Multiple submitters
-
AFF2 p.Leu84Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Lys977Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF2 p.Pro299Leu Uncertain significance Multiple submitters
-
AFF2 p.Ser496Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Ser931Asn
Uncertain significance
Multiple submitters
FRAXE intellectual disability
-
AFF2 p.Thr1056Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Thr377Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Thr551Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF2 p.Val1233Ile Uncertain significance Multiple submitters
-
AFF2 p.Ala1012Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Ala1046Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ala1079Thr Uncertain significance Single submitter
- AFF2 p.Ala1102Val Uncertain significance Single submitter
- AFF2 p.Ala1103Thr Uncertain significance Single submitter
- AFF2 p.Ala1224Thr Uncertain significance Single submitter
- AFF2 p.Ala134Val Uncertain significance Single submitter
-
AFF2 p.Ala171Ser
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Ala171Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ala378Gly Uncertain significance Single submitter
-
AFF2 p.Ala516Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Ala944Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ala990Val Uncertain significance Single submitter
-
AFF2 p.Ala992Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Arg1161Gln Uncertain significance Single submitter
- AFF2 p.Arg161His Uncertain significance Single submitter
-
AFF2 p.Arg28Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Arg32Gln Uncertain significance Single submitter
-
AFF2 p.Arg586Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Arg624Lys Uncertain significance Single submitter
- AFF2 p.Arg668Lys Uncertain significance Single submitter
-
AFF2 p.Arg670Leu
Uncertain significance
Single submitter
non-syndromic X-linked intellectual disability
-
AFF2 p.Arg708Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Arg926His
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Asn120Ser Uncertain significance Single submitter
-
AFF2 p.Asn1227Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Asn165Lys Uncertain significance Single submitter
-
AFF2 p.Asn649Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Asn767Ser Uncertain significance Single submitter
- AFF2 p.Asn898Ser Uncertain significance Single submitter
-
AFF2 p.Asn933Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Asn942Asp
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Asp1276Gly Uncertain significance Single submitter
- AFF2 p.Asp296Glu Uncertain significance Single submitter
-
AFF2 p.Asp300Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Asp300Tyr Uncertain significance Single submitter
- AFF2 p.Asp325Gly Uncertain significance Single submitter
-
AFF2 p.Asp425Gly
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Asp42Asn Uncertain significance Single submitter
-
AFF2 p.Asp499Gly
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Asp940Glu
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Asp974Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Asp974Val Uncertain significance Single submitter
- AFF2 p.Cys1109Gly Uncertain significance Single submitter
- AFF2 p.Cys736Tyr Uncertain significance Single submitter
- AFF2 p.Gln268Arg Uncertain significance Single submitter
- AFF2 p.Gln394Arg Uncertain significance Single submitter
- AFF2 p.Gln39Lys Uncertain significance Single submitter
- AFF2 p.Gln724Leu Uncertain significance Single submitter
-
AFF2 p.Gln729Lys
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Glu1132Gly Uncertain significance Single submitter
-
AFF2 p.Glu243Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Glu437Gln Uncertain significance Single submitter
-
AFF2 p.Glu554Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Glu845Lys Uncertain significance Single submitter
-
AFF2 p.Gly1033Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Gly1094Cys Uncertain significance Single submitter
-
AFF2 p.Gly207Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Gly264Val Uncertain significance Single submitter
-
AFF2 p.Gly482Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.His150Arg Uncertain significance Single submitter
-
AFF2 p.His820Arg
Uncertain significance
Single submitter
AFF2-related disorder
-
AFF2 p.His88Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.His890Tyr Uncertain significance Single submitter
-
AFF2 p.Ile626Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Ile703Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Ile749Met
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ile877Val Uncertain significance Single submitter
- AFF2 p.Ile968Thr Uncertain significance Single submitter
-
AFF2 p.Ile97Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ile984Val Uncertain significance Single submitter
- AFF2 p.Leu1166Pro Uncertain significance Single submitter
- AFF2 p.Leu148Arg Uncertain significance Single submitter
-
AFF2 p.Leu323Phe
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Leu50Ile Uncertain significance Single submitter
- AFF2 p.Leu67Phe Uncertain significance Single submitter
-
AFF2 p.Leu871Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Lys336Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Lys339Met Uncertain significance Single submitter
- AFF2 p.Lys542Arg Uncertain significance Single submitter
- AFF2 p.Lys63Asn Uncertain significance Single submitter
-
AFF2 p.Lys647Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Lys825Glu Uncertain significance Single submitter
- AFF2 p.Lys850Arg Uncertain significance Single submitter
- AFF2 p.Lys863Arg Uncertain significance Single submitter
- AFF2 p.Lys99Asn Uncertain significance Single submitter
- AFF2 p.Met136Lys Uncertain significance Single submitter
-
AFF2 p.Met181Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Met375Val Uncertain significance Single submitter
- AFF2 p.Met570Val Uncertain significance Single submitter
- AFF2 p.Met760Leu Uncertain significance Single submitter
- AFF2 p.Met81Ile Uncertain significance Single submitter
- AFF2 p.Met945Thr Uncertain significance Single submitter
- AFF2 p.Phe1143Val Uncertain significance Single submitter
-
AFF2 p.Phe234Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Phe419Ser Uncertain significance Single submitter
-
AFF2 p.Pro106Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Pro1123Arg Uncertain significance Single submitter
- AFF2 p.Pro137Leu Uncertain significance Single submitter
-
AFF2 p.Pro138Ala
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Pro261Ser Uncertain significance Single submitter
- AFF2 p.Pro328Ala Uncertain significance Single submitter
-
AFF2 p.Pro520Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Pro559Thr Uncertain significance Single submitter
-
AFF2 p.Pro580Ser
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Pro648Ser Uncertain significance Single submitter
-
AFF2 p.Pro678Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Pro684Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Pro684Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Pro686Ser Uncertain significance Single submitter
- AFF2 p.Pro835Arg Uncertain significance Single submitter
-
AFF2 p.Pro857Ala
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Pro881Ser
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Pro888Leu Uncertain significance Single submitter
-
AFF2 p.Pro892Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ser1054Gly Uncertain significance Single submitter
-
AFF2 p.Ser1055Asn
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Ser1055Gly
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Ser1105Pro Uncertain significance Single submitter
-
AFF2 p.Ser1164Leu
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Ser1184Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ser220Ile Uncertain significance Single submitter
- AFF2 p.Ser224Thr Uncertain significance Single submitter
-
AFF2 p.Ser242Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Ser431Asn
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Ser509Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ser716Phe Uncertain significance Single submitter
-
AFF2 p.Ser762Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Ser770Pro
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 94
The independent predictors disagree with each other — read with care.
-
AFF2 p.Arg670His
Uncertain significance
Multiple submitters
FRAXE intellectual disability
-
AFF2 p.Glu872Gln
Uncertain significance
Multiple submitters
FRAXE intellectual disability
-
AFF2 p.His1070Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF2 p.Leu429Val Uncertain significance Multiple submitters
-
AFF2 p.Leu610Phe
Uncertain significance
Multiple submitters
FRAXE intellectual disability
-
AFF2 p.Leu614Phe
Uncertain significance
Multiple submitters
FRAXE intellectual disability
-
AFF2 p.Lys694Asn
Uncertain significance
Multiple submitters
non-syndromic X-linked intellectual disability
-
AFF2 p.Lys696Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF2 p.Phe114Leu
Uncertain significance
Multiple submitters
FRAXE intellectual disability
- AFF2 p.Pro271Ser Uncertain significance Multiple submitters
-
AFF2 p.Pro886Ala
Benign/Likely benign
Multiple submitters
FRAXE intellectual disability
- AFF2 p.Ser374Tyr Benign Multiple submitters
-
AFF2 p.Thr1013Met
Uncertain significance
Multiple submitters
FRAXE intellectual disability
- AFF2 p.Val621Met Uncertain significance Multiple submitters
-
AFF2 p.Ala1012Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ala1100Thr Uncertain significance Single submitter
- AFF2 p.Ala1144Glu Uncertain significance Single submitter
-
AFF2 p.Arg1255Gln
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Arg161Cys Likely benign Single submitter
- AFF2 p.Arg22Cys Uncertain significance Single submitter
-
AFF2 p.Arg599Trp
Likely benign
Single submitter
Inborn genetic diseases
-
AFF2 p.Arg681Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Arg837Cys Uncertain significance Single submitter
-
AFF2 p.Arg853His
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Arg870Cys
Likely benign
Single submitter
Inborn genetic diseases
-
AFF2 p.Arg870His
Likely benign
Single submitter
Inborn genetic diseases
- AFF2 p.Arg8Ser Uncertain significance Single submitter
- AFF2 p.Arg926Cys Uncertain significance Single submitter
- AFF2 p.Arg927Cys Likely benign Single submitter
-
AFF2 p.Asn1227His
Conflicting
Single submitter
Inborn genetic diseases
-
AFF2 p.Asp1116Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Asp11Asn Uncertain significance Single submitter
- AFF2 p.Asp9Gly Uncertain significance Single submitter
-
AFF2 p.Gln38His
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Glu909Lys Uncertain significance Single submitter
- AFF2 p.Gly851Asp Uncertain significance Single submitter
- AFF2 p.His1259Leu Uncertain significance Single submitter
-
AFF2 p.Ile1030Leu
Conflicting
Single submitter
FRAXE intellectual disability
- AFF2 p.Leu25Val Uncertain significance Single submitter
- AFF2 p.Leu372Phe Uncertain significance Single submitter
-
AFF2 p.Leu3Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Leu50Phe Uncertain significance Single submitter
-
AFF2 p.Leu879Phe
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Lys632Glu Likely benign Single submitter
-
AFF2 p.Lys677Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Lys706Glu
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Phe196Leu Uncertain significance Single submitter
- AFF2 p.Phe48Leu Uncertain significance Single submitter
- AFF2 p.Phe48Tyr Uncertain significance Single submitter
-
AFF2 p.Pro1200His
Likely benign
Single submitter
Inborn genetic diseases
- AFF2 p.Pro1211Ser Uncertain significance Single submitter
- AFF2 p.Pro1283Ser Uncertain significance Single submitter
-
AFF2 p.Pro285Thr
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Pro338Thr
Uncertain significance
Single submitter
FRAXE intellectual disability
-
AFF2 p.Pro472Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Pro475Arg Uncertain significance Single submitter
- AFF2 p.Pro520Thr Uncertain significance Single submitter
-
AFF2 p.Pro522Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Pro705Ser Uncertain significance Single submitter
- AFF2 p.Pro734Arg Uncertain significance Single submitter
-
AFF2 p.Pro919Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Pro98Thr Uncertain significance Single submitter
-
AFF2 p.Ser1037Ile
Likely benign
Single submitter
Inborn genetic diseases
-
AFF2 p.Ser1068Trp
Likely pathogenic
Single submitter
primary ovarian failure
- AFF2 p.Ser189Phe Uncertain significance Single submitter
- AFF2 p.Ser349Gly Uncertain significance Single submitter
- AFF2 p.Ser387Tyr Likely benign Single submitter
- AFF2 p.Ser413Phe Uncertain significance Single submitter
- AFF2 p.Ser421Leu Uncertain significance Single submitter
- AFF2 p.Ser487Phe Uncertain significance Single submitter
- AFF2 p.Ser509Tyr Uncertain significance Single submitter
- AFF2 p.Ser557Tyr Uncertain significance Single submitter
-
AFF2 p.Ser790Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Ser901Phe Likely benign Single submitter
- AFF2 p.Ser901Tyr Uncertain significance Single submitter
- AFF2 p.Thr1016Pro Uncertain significance Single submitter
-
AFF2 p.Thr1016Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Thr1025Ile
Uncertain significance
Single submitter
FRAXE intellectual disability
- AFF2 p.Thr1027Ala Uncertain significance Single submitter
- AFF2 p.Thr1029Ala Uncertain significance Single submitter
- AFF2 p.Thr1234Ala Uncertain significance Single submitter
- AFF2 p.Thr1291Ile Uncertain significance Single submitter
-
AFF2 p.Thr341Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Thr345Ile Likely benign Single submitter
- AFF2 p.Thr504Ile Uncertain significance Single submitter
- AFF2 p.Thr86Pro Uncertain significance Single submitter
-
AFF2 p.Trp159Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF2 p.Tyr55Cys Uncertain significance Single submitter
- AFF2 p.Tyr60His Uncertain significance Single submitter
- AFF2 p.Val246Met Likely benign Single submitter
-
AFF2 p.Val841Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF2 p.Asp1150Tyr
Pathogenic
No assertion criteria
FRAXE intellectual disability
-
AFF2 p.Ile360Val
Uncertain significance
No assertion criteria
AFF2-related disorder
-
AFF2 p.Tyr60Cys
Likely benign
No assertion criteria
intellectual disability
All AFF2 variants
Pathogenic 8
- c.1350_1397+1491del Single submitter FRAXE intellectual disability
- c.3476+1G>A Single submitter FRAXE intellectual disability
- p.Asn1192fs Single submitter
- p.Gln1077Ter Single submitter intellectual disability
- p.Gly1207fs Single submitter Inborn genetic diseases
- p.Lys26Ter Single submitter Inborn genetic diseases
- c.-460GCC[6_25] No assertion criteria FRAXE intellectual disability
- p.Asp1150Tyr No assertion criteria FRAXE intellectual disability ⚠
Likely pathogenic 11
- c.1210+1G>A Single submitter Inborn genetic diseases
- c.3203+1G>A Single submitter Inborn genetic diseases
- p.Cys962Tyr Single submitter FRAXE intellectual disability ⚠
- p.Gln38Ter Single submitter FRAXE intellectual disability
- p.Glu567Ter Single submitter FRAXE intellectual disability
- p.Ser1068Trp Single submitter primary ovarian failure ⚠
- p.Ser1164fs Single submitter FRAXE intellectual disability
- p.Tyr78fs Single submitter FRAXE intellectual disability
- c.1262+1G>A No assertion criteria
- p.Arg1161Ter No assertion criteria FRAXE intellectual disability
- p.Thr1043Met No assertion criteria ⚠
Conflicting classifications of pathogenicity 13
- c.3267+5G>A Single submitter FRAXE intellectual disability
- p.Ala245Thr Single submitter Inborn genetic diseases ⚠
- p.Arg161Ser Single submitter Inborn genetic diseases ⚠
- p.Arg514His Single submitter Inborn genetic diseases ⚠
- p.Arg514Pro Single submitter Inborn genetic diseases ⚠
- p.Asn1227His Single submitter Inborn genetic diseases ⚠
- p.Asp808= Single submitter
- p.Ile1030Leu Single submitter FRAXE intellectual disability ⚠
- p.Ile301Val Single submitter FRAXE intellectual disability ⚠
- p.Ile711Thr Single submitter Inborn genetic diseases ⚠
- p.Leu1034Ile Single submitter Inborn genetic diseases ⚠
- p.Pro936Ser Single submitter Inborn genetic diseases ⚠
- p.Ser969Leu Single submitter Inborn genetic diseases ⚠
Benign 11
- c.1041+56456A>G Multiple submitters FRAXE intellectual disability
- c.1558-78G>C Multiple submitters FRAXE intellectual disability
- c.3404+7A>G Multiple submitters FRAXE intellectual disability
- c.3623+57G>A Multiple submitters FRAXE intellectual disability
- p.Leu451= Multiple submitters
- p.Ser374Tyr Multiple submitters ⚠
- p.Ser496= Multiple submitters FRAXE intellectual disability
- p.Thr551= Multiple submitters
- p.Val732= Multiple submitters
- p.Ser101= Single submitter
- p.Thr1279= Single submitter
Benign/Likely benign 9
- p.Ala596= Multiple submitters
- p.Arg927His Multiple submitters FRAXE intellectual disability
- p.Asn165Asp Multiple submitters Inborn genetic diseases
- p.His612Asp Multiple submitters FRAXE intellectual disability
- p.Pro1232= Multiple submitters
- p.Pro166Ser Multiple submitters
- p.Pro886Ala Multiple submitters FRAXE intellectual disability ⚠
- p.Thr727= Multiple submitters
- p.Gly1231= No assertion criteria
Likely benign 76
- p.Ala1046= Multiple submitters
- p.Asp1152= Multiple submitters
- p.Glu489= Multiple submitters
- p.Gly547Asp Multiple submitters
- p.Met566Thr Multiple submitters
- p.Phe1090Ile Multiple submitters Inborn genetic diseases
- p.Ser969= Multiple submitters Inborn genetic diseases
- p.Thr444Ala Multiple submitters Inborn genetic diseases
- p.Thr620Ala Multiple submitters non-syndromic X-linked intellectual disability
- c.1041+56438C>T Single submitter
- c.1042-5T>G Single submitter
- c.1398-10T>G Single submitter
- c.3814+10T>G Single submitter
- c.47+16T>C Single submitter
- c.-458CGC[7] Single submitter
- p.Ala248Val Single submitter Inborn genetic diseases
- p.Ala979Pro Single submitter
- p.Arg1135= Single submitter Inborn genetic diseases
- p.Arg161Cys Single submitter ⚠
- p.Arg597His Single submitter
- p.Arg599Trp Single submitter Inborn genetic diseases ⚠
- p.Arg870Cys Single submitter Inborn genetic diseases ⚠
- p.Arg870His Single submitter Inborn genetic diseases ⚠
- p.Arg896Lys Single submitter Inborn genetic diseases
- p.Arg907Gly Single submitter
- p.Arg927Cys Single submitter ⚠
- p.Asn1218= Single submitter
- p.Asn934= Single submitter
- p.Asp9= Single submitter Inborn genetic diseases
- p.Cys962Phe Single submitter
- p.Gln564= Single submitter
- p.Gly390Ala Single submitter Inborn genetic diseases
- p.His164= Single submitter Inborn genetic diseases
- p.His664= Single submitter
- p.Ile1001_Ala1010del Single submitter
- p.Ile233Val Single submitter Inborn genetic diseases
- p.Ile604Thr Single submitter Inborn genetic diseases
- p.Ile858Val Single submitter Inborn genetic diseases
- p.Leu361= Single submitter
- p.Leu591= Single submitter Inborn genetic diseases
- p.Leu809= Single submitter
- p.Lys632Glu Single submitter ⚠
- p.Lys682= Single submitter Inborn genetic diseases
- p.Lys867= Single submitter
- p.Met136Thr Single submitter Inborn genetic diseases
- p.Met566Lys Single submitter
- p.Met784Arg Single submitter
- p.Pro1049= Single submitter
- p.Pro1200His Single submitter Inborn genetic diseases ⚠
- p.Pro468= Single submitter
- p.Pro735= Single submitter
- p.Pro835= Single submitter
- p.Pro98= Single submitter
- p.Ser1037Ile Single submitter Inborn genetic diseases ⚠
- p.Ser1149= Single submitter
- p.Ser387Tyr Single submitter ⚠
- p.Ser746Pro Single submitter Inborn genetic diseases
- p.Ser901Phe Single submitter ⚠
- p.Thr1013= Single submitter
- p.Thr345Ile Single submitter ⚠
- p.Thr345Lys Single submitter
- p.Thr441Ile Single submitter
- p.Thr601= Single submitter
- p.Tyr288= Single submitter
- p.Tyr697= Single submitter
- p.Tyr78= Single submitter
- p.Val246Met Single submitter ⚠
- p.Val704= Single submitter
- p.Val996_Thr999del Single submitter Inborn genetic diseases
- p.Arg1115= No assertion criteria AFF2-related disorder
- p.Gln297= No assertion criteria AFF2-related disorder
- p.Leu429= No assertion criteria AFF2-related disorder
- p.Pro689Ser No assertion criteria
- p.Thr1011= No assertion criteria AFF2-related disorder
- p.Tyr1181= No assertion criteria AFF2-related disorder
- p.Tyr60Cys No assertion criteria intellectual disability ⚠
Uncertain significance 281
- c.3267+5G>C Multiple submitters
- p.Ala1197Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala171Pro Multiple submitters ⚠
- p.Arg1238Cys Multiple submitters FRAXE intellectual disability ⚠
- p.Arg1295Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg670His Multiple submitters FRAXE intellectual disability ⚠
- p.Asn77Ile Multiple submitters ⚠
- p.Asp187Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln205Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln391= Multiple submitters FRAXE intellectual disability
- p.Glu489Asp Multiple submitters FRAXE intellectual disability ⚠
- p.Glu872Gln Multiple submitters FRAXE intellectual disability ⚠
- p.Gly482Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly740Val Multiple submitters Inborn genetic diseases ⚠
- p.His1070Arg Multiple submitters Inborn genetic diseases ⚠
- p.His366Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile309Thr Multiple submitters ⚠
- p.Leu429Val Multiple submitters ⚠
- p.Leu610Phe Multiple submitters FRAXE intellectual disability ⚠
- p.Leu614Phe Multiple submitters FRAXE intellectual disability ⚠
- p.Leu84Ser Multiple submitters Inborn genetic diseases ⚠
- p.Lys694Asn Multiple submitters non-syndromic X-linked intellectual disability ⚠
- p.Lys696Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys977Glu Multiple submitters Inborn genetic diseases ⚠
- p.Phe114Leu Multiple submitters FRAXE intellectual disability ⚠
- p.Pro271Ser Multiple submitters ⚠
- p.Pro299Leu Multiple submitters ⚠
- p.Ser496Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser931Asn Multiple submitters FRAXE intellectual disability ⚠
- p.Thr1013Met Multiple submitters FRAXE intellectual disability ⚠
- p.Thr1056Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr377Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr551Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val1233Ile Multiple submitters ⚠
- p.Val621Met Multiple submitters ⚠
- c.1041+56413A>G Single submitter
- c.1041+56452_1041+56454del Single submitter AFF2-related disorder
- c.1210+4A>G Single submitter
- c.1262+1G>C Single submitter
- c.1262+6T>C Single submitter
- c.1397+5G>A Single submitter Inborn genetic diseases
- c.181-6T>C Single submitter
- c.2568+5_2568+13del Single submitter
- c.2913+3A>C Single submitter FRAXE intellectual disability
- c.2913+7A>G Single submitter
- c.2914-15C>A Single submitter FRAXE intellectual disability
- c.3405-1G>T Single submitter
- c.3477-4A>G Single submitter
- c.3571-5T>C Single submitter
- c.3814+1G>T Single submitter
- c.3815-5T>C Single submitter
- c.48-60738G>C Single submitter FRAXE intellectual disability
- c.-458CGC[6] Single submitter
- c.*4554C>G Single submitter FRAXE intellectual disability
- p.Ala1012Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1012Val Single submitter Inborn genetic diseases ⚠
- p.Ala1046Val Single submitter Inborn genetic diseases ⚠
- p.Ala1079Thr Single submitter ⚠
- p.Ala1100Thr Single submitter ⚠
- p.Ala1102Val Single submitter ⚠
- p.Ala1103Thr Single submitter ⚠
- p.Ala1144Glu Single submitter ⚠
- p.Ala1224Thr Single submitter ⚠
- p.Ala134Val Single submitter ⚠
- p.Ala171Ser Single submitter FRAXE intellectual disability ⚠
- p.Ala171Thr Single submitter Inborn genetic diseases ⚠
- p.Ala378Gly Single submitter ⚠
- p.Ala516Pro Single submitter Inborn genetic diseases ⚠
- p.Ala944Thr Single submitter Inborn genetic diseases ⚠
- p.Ala990Val Single submitter ⚠
- p.Ala992Val Single submitter Inborn genetic diseases ⚠
- p.Arg1161Gln Single submitter ⚠
- p.Arg1255Gln Single submitter FRAXE intellectual disability ⚠
- p.Arg161His Single submitter ⚠
- p.Arg22Cys Single submitter ⚠
- p.Arg28Gly Single submitter Inborn genetic diseases ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg586Ser Single submitter Inborn genetic diseases ⚠
- p.Arg624Lys Single submitter ⚠
- p.Arg668Lys Single submitter ⚠
- p.Arg670Leu Single submitter non-syndromic X-linked intellectual disability ⚠
- p.Arg681Gly Single submitter Inborn genetic diseases ⚠
- p.Arg708Gln Single submitter Inborn genetic diseases ⚠
- p.Arg837Cys Single submitter ⚠
- p.Arg853His Single submitter FRAXE intellectual disability ⚠
- p.Arg8Ser Single submitter ⚠
- p.Arg926Cys Single submitter ⚠
- p.Arg926His Single submitter Inborn genetic diseases ⚠
- p.Asn1192= Single submitter
- p.Asn120Ser Single submitter ⚠
- p.Asn1227Ser Single submitter Inborn genetic diseases ⚠
- p.Asn165Lys Single submitter ⚠
- p.Asn649Asp Single submitter Inborn genetic diseases ⚠
- p.Asn767Ser Single submitter ⚠
- p.Asn768del Single submitter
- p.Asn898Ser Single submitter ⚠
- p.Asn933Ser Single submitter Inborn genetic diseases ⚠
- p.Asn942Asp Single submitter FRAXE intellectual disability ⚠
- p.Asp1116Asn Single submitter Inborn genetic diseases ⚠
- p.Asp11Asn Single submitter ⚠
- p.Asp1276Gly Single submitter ⚠
- p.Asp296Glu Single submitter ⚠
- p.Asp300Asn Single submitter Inborn genetic diseases ⚠
- p.Asp300Tyr Single submitter ⚠
- p.Asp325Gly Single submitter ⚠
- p.Asp425Gly Single submitter FRAXE intellectual disability ⚠
- p.Asp42Asn Single submitter ⚠
- p.Asp499Gly Single submitter FRAXE intellectual disability ⚠
- p.Asp940Glu Single submitter FRAXE intellectual disability ⚠
- p.Asp974Gly Single submitter Inborn genetic diseases ⚠
- p.Asp974Val Single submitter ⚠
- p.Asp9Gly Single submitter ⚠
- p.Cys1109Gly Single submitter ⚠
- p.Cys736Tyr Single submitter ⚠
- p.Gln268Arg Single submitter ⚠
- p.Gln38His Single submitter Inborn genetic diseases ⚠
- p.Gln394Arg Single submitter ⚠
- p.Gln39Lys Single submitter ⚠
- p.Gln724Leu Single submitter ⚠
- p.Gln729Lys Single submitter FRAXE intellectual disability ⚠
- p.Glu1132Gly Single submitter ⚠
- p.Glu243Gln Single submitter Inborn genetic diseases ⚠
- p.Glu437Gln Single submitter ⚠
- p.Glu554Lys Single submitter Inborn genetic diseases ⚠
- p.Glu845Lys Single submitter ⚠
- p.Glu909Lys Single submitter ⚠
- p.Gly1033Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1094Cys Single submitter ⚠
- p.Gly207Val Single submitter Inborn genetic diseases ⚠
- p.Gly264Val Single submitter ⚠
- p.Gly482Ala Single submitter Inborn genetic diseases ⚠
- p.Gly851Asp Single submitter ⚠
- p.His1259Leu Single submitter ⚠
- p.His150Arg Single submitter ⚠
- p.His820Arg Single submitter AFF2-related disorder ⚠
- p.His88Arg Single submitter Inborn genetic diseases ⚠
- p.His890Tyr Single submitter ⚠
- p.Ile626Thr Single submitter Inborn genetic diseases ⚠
- p.Ile703Met Single submitter Inborn genetic diseases ⚠
- p.Ile749Met Single submitter Inborn genetic diseases ⚠
- p.Ile877Val Single submitter ⚠
- p.Ile968Thr Single submitter ⚠
- p.Ile97Asn Single submitter Inborn genetic diseases ⚠
- p.Ile984Val Single submitter ⚠
- p.Leu1166Pro Single submitter ⚠
- p.Leu148Arg Single submitter ⚠
- p.Leu25Val Single submitter ⚠
- p.Leu323Phe Single submitter FRAXE intellectual disability ⚠
- p.Leu372Phe Single submitter ⚠
- p.Leu3Pro Single submitter Inborn genetic diseases ⚠
- p.Leu50Ile Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Leu67Phe Single submitter ⚠
- p.Leu871Val Single submitter Inborn genetic diseases ⚠
- p.Leu879Phe Single submitter FRAXE intellectual disability ⚠
- p.Lys336Arg Single submitter Inborn genetic diseases ⚠
- p.Lys339Met Single submitter ⚠
- p.Lys542Arg Single submitter ⚠
- p.Lys63Asn Single submitter ⚠
- p.Lys647Arg Single submitter Inborn genetic diseases ⚠
- p.Lys677Glu Single submitter Inborn genetic diseases ⚠
- p.Lys706Glu Single submitter FRAXE intellectual disability ⚠
- p.Lys825Glu Single submitter ⚠
- p.Lys850Arg Single submitter ⚠
- p.Lys856= Single submitter
- p.Lys863Arg Single submitter ⚠
- p.Lys868del Single submitter
- p.Lys99Asn Single submitter ⚠
- p.Met136Lys Single submitter ⚠
- p.Met181Thr Single submitter Inborn genetic diseases ⚠
- p.Met375Val Single submitter ⚠
- p.Met570Val Single submitter ⚠
- p.Met760Leu Single submitter ⚠
- p.Met81Ile Single submitter ⚠
- p.Met945Thr Single submitter ⚠
- p.Phe1090= Single submitter
- p.Phe1143Val Single submitter ⚠
- p.Phe196Leu Single submitter ⚠
- p.Phe234Ser Single submitter Inborn genetic diseases ⚠
- p.Phe419Ser Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Phe48Tyr Single submitter ⚠
- p.Pro106Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1123Arg Single submitter ⚠
- p.Pro1202= Single submitter
- p.Pro1211Ser Single submitter ⚠
- p.Pro1283Ser Single submitter ⚠
- p.Pro137Leu Single submitter ⚠
- p.Pro138Ala Single submitter FRAXE intellectual disability ⚠
- p.Pro261Ser Single submitter ⚠
- p.Pro285Thr Single submitter FRAXE intellectual disability ⚠
- p.Pro328Ala Single submitter ⚠
- p.Pro338Thr Single submitter FRAXE intellectual disability ⚠
- p.Pro472Arg Single submitter Inborn genetic diseases ⚠
- p.Pro475Arg Single submitter ⚠
- p.Pro520Ser Single submitter Inborn genetic diseases ⚠
- p.Pro520Thr Single submitter ⚠
- p.Pro522Ser Single submitter Inborn genetic diseases ⚠
- p.Pro559Thr Single submitter ⚠
- p.Pro580Ser Single submitter FRAXE intellectual disability ⚠
- p.Pro648Ser Single submitter ⚠
- p.Pro678Leu Single submitter Inborn genetic diseases ⚠
- p.Pro684Gln Single submitter Inborn genetic diseases ⚠
- p.Pro684Ser Single submitter Inborn genetic diseases ⚠
- p.Pro686Ser Single submitter ⚠
- p.Pro705Ser Single submitter ⚠
- p.Pro734Arg Single submitter ⚠
- p.Pro835Arg Single submitter ⚠
- p.Pro857Ala Single submitter FRAXE intellectual disability ⚠
- p.Pro881Ser Single submitter FRAXE intellectual disability ⚠
- p.Pro888Leu Single submitter ⚠
- p.Pro892Leu Single submitter Inborn genetic diseases ⚠
- p.Pro919Ser Single submitter Inborn genetic diseases ⚠
- p.Pro98Thr Single submitter ⚠
- p.Ser1054Gly Single submitter ⚠
- p.Ser1055Asn Single submitter FRAXE intellectual disability ⚠
- p.Ser1055Gly Single submitter FRAXE intellectual disability ⚠
- p.Ser1105Pro Single submitter ⚠
- p.Ser1164Leu Single submitter FRAXE intellectual disability ⚠
- p.Ser1184Pro Single submitter Inborn genetic diseases ⚠
- p.Ser189Phe Single submitter ⚠
- p.Ser220Ile Single submitter ⚠
- p.Ser224Thr Single submitter ⚠
- p.Ser242Pro Single submitter Inborn genetic diseases ⚠
- p.Ser349Gly Single submitter ⚠
- p.Ser413Phe Single submitter ⚠
- p.Ser421Leu Single submitter ⚠
- p.Ser431Asn Single submitter FRAXE intellectual disability ⚠
- p.Ser487Phe Single submitter ⚠
- p.Ser509Thr Single submitter Inborn genetic diseases ⚠
- p.Ser509Tyr Single submitter ⚠
- p.Ser557Tyr Single submitter ⚠
- p.Ser716Phe Single submitter ⚠
- p.Ser762Asn Single submitter Inborn genetic diseases ⚠
- p.Ser770Pro Single submitter Inborn genetic diseases ⚠
- p.Ser790Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser901Tyr Single submitter ⚠
- p.Ser951Pro Single submitter ⚠
- p.Ser980Pro Single submitter Inborn genetic diseases ⚠
- p.Thr1004Ser Single submitter FRAXE intellectual disability ⚠
- p.Thr1016Pro Single submitter ⚠
- p.Thr1016Ser Single submitter Inborn genetic diseases ⚠
- p.Thr1025Ile Single submitter FRAXE intellectual disability ⚠
- p.Thr1027= Single submitter
- p.Thr1027Ala Single submitter ⚠
- p.Thr1029Ala Single submitter ⚠
- p.Thr1125Ile Single submitter ⚠
- p.Thr1210Ala Single submitter ⚠
- p.Thr1234Ala Single submitter ⚠
- p.Thr1291Ile Single submitter ⚠
- p.Thr322Ala Single submitter Inborn genetic diseases ⚠
- p.Thr341Ile Single submitter Inborn genetic diseases ⚠
- p.Thr373Ser Single submitter ⚠
- p.Thr410Ala Single submitter ⚠
- p.Thr504Ile Single submitter ⚠
- p.Thr755Asn Single submitter Inborn genetic diseases ⚠
- p.Thr777Ile Single submitter FRAXE intellectual disability ⚠
- p.Thr833Lys Single submitter Inborn genetic diseases ⚠
- p.Thr86Pro Single submitter ⚠
- p.Thr875Ala Single submitter Inborn genetic diseases ⚠
- p.Thr895Ser Single submitter Inborn genetic diseases ⚠
- p.Trp159Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr1074His Single submitter ⚠
- p.Tyr1296Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr55Cys Single submitter ⚠
- p.Tyr60His Single submitter ⚠
- p.Tyr78Cys Single submitter Inborn genetic diseases ⚠
- p.Val1002Ala Single submitter Inborn genetic diseases ⚠
- p.Val1006Ala Single submitter FRAXE intellectual disability ⚠
- p.Val1196Phe Single submitter ⚠
- p.Val1247Ile Single submitter ⚠
- p.Val169Glu Single submitter ⚠
- p.Val289Ile Single submitter Inborn genetic diseases ⚠
- p.Val465Leu Single submitter Inborn genetic diseases ⚠
- p.Val568Ile Single submitter ⚠
- p.Val579Ile Single submitter FRAXE intellectual disability ⚠
- p.Val841Phe Single submitter Inborn genetic diseases ⚠
- p.Val986Ile Single submitter Inborn genetic diseases ⚠
- p.Asn687Asp No assertion criteria AFF2-related disorder ⚠
- p.Ile360Val No assertion criteria AFF2-related disorder ⚠
- p.Lys1081Arg No assertion criteria FRAXE intellectual disability ⚠