AFF3 — 302 ClinVar variants
All ClinVar germline AFF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 209 flagged for review →
6 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 9 Conflicting · 13 Benign · 1 Benign/Likely benign · 56 Likely benign · 211 Uncertain significance
Full AFF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 209
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
AFF3 p.Thr808Ala
Likely pathogenic
Single submitter
KINSSHIP syndrome
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AFF3 p.Ala1223Thr
Conflicting
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala458Thr
Conflicting
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala791Thr
Conflicting
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg947Gln
Conflicting
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly927Ser
Conflicting
Single submitter
Inborn genetic diseases
-
AFF3 p.Thr298Ile
Conflicting
Single submitter
Inborn genetic diseases
- AFF3 p.Val500Leu Conflicting Single submitter
Predictors lean, ClinVar uncertain 132
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AFF3 p.Ile1147Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF3 p.Ser222Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF3 p.Ala1008Thr Uncertain significance Single submitter
-
AFF3 p.Ala1100Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala1103Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala1103Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala1141Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala118Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala201Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala383Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala536Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala560Ser
Uncertain significance
Single submitter
KINSSHIP syndrome
-
AFF3 p.Ala572Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala583Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala609Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala610Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala700Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala855Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala886Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Ala886Thr Uncertain significance Single submitter
-
AFF3 p.Ala919Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg604Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg821Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg901Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg947Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asn1052Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Asn1096Ser Uncertain significance Single submitter
-
AFF3 p.Asn1123His
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Asn1190Ser Uncertain significance Single submitter
-
AFF3 p.Asn188Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Asn358Asp Uncertain significance Single submitter
-
AFF3 p.Asn727Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asn872Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asn936Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asp109Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Asp1179Asn Uncertain significance Single submitter
-
AFF3 p.Asp246His
Uncertain significance
Single submitter
KINSSHIP syndrome
- AFF3 p.Asp335His Uncertain significance Single submitter
-
AFF3 p.Asp357Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asp368Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asp506Glu
Uncertain significance
Single submitter
KINSSHIP syndrome
-
AFF3 p.Asp828Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asp920Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Cys301Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Cys507Tyr Uncertain significance Single submitter
-
AFF3 p.Cys647Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gln1133His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gln159Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gln949Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Glu1013Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Glu446Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Glu457Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Glu492Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Glu502Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Glu606Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Glu785Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly322Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly349Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly412Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly584Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly615Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly715Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly837Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly959Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.His1082Asp Uncertain significance Single submitter
-
AFF3 p.His211Asn
Uncertain significance
Single submitter
AFF3-related disorder
-
AFF3 p.His260Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.His478Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.His781Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.His889Gln
Uncertain significance
Single submitter
AFF3-related disorder
-
AFF3 p.His935Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.His989Tyr Uncertain significance Single submitter
-
AFF3 p.Ile1039Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ile523Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ile69Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ile726Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Leu14Phe Uncertain significance Single submitter
-
AFF3 p.Leu172Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Leu281Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Leu389Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Leu641Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Leu655Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Leu681Val Uncertain significance Single submitter
-
AFF3 p.Lys271Thr
Uncertain significance
Single submitter
AFF3-related disorder
-
AFF3 p.Lys474Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Lys479Met Uncertain significance Single submitter
-
AFF3 p.Lys509Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Lys543Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Lys661Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Lys833Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Lys833Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Met1023Val Uncertain significance Single submitter
-
AFF3 p.Pro1106Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro321Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro332Thr
Uncertain significance
Single submitter
AFF3-related disorder
-
AFF3 p.Pro408Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro451Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro477Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro480Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro499Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro516Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro550Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro568Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Pro689Arg Uncertain significance Single submitter
-
AFF3 p.Pro801Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro801Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro955Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Ser1110Asn Uncertain significance Single submitter
-
AFF3 p.Ser1140Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser255Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser258Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser491Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser776Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser806Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser842Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Ser843Pro Uncertain significance Single submitter
-
AFF3 p.Thr163Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Thr646Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Thr847Ile Uncertain significance Single submitter
-
AFF3 p.Thr931Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Tyr688Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Tyr688His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val113Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val1148Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val189Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val189Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val191Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val191Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val558Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val567Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val619Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala203Ser
Uncertain significance
No assertion criteria
AFF3-related disorder
Predictors split 69
The independent predictors disagree with each other — read with care.
-
AFF3 p.Ala233Thr
Pathogenic
Multiple submitters
KINSSHIP syndrome
-
AFF3 p.Ala233Val
Pathogenic/Likely pathogenic
Multiple submitters
KINSSHIP syndrome
-
AFF3 p.Leu370Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFF3 p.Thr950Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFF3 p.Ala1182Thr Uncertain significance Single submitter
-
AFF3 p.Ala552Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg182Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg590His
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg638Leu
Uncertain significance
Single submitter
KINSSHIP syndrome
-
AFF3 p.Arg777Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg877Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Arg975Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asn1138Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asn1166Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Asn25His Uncertain significance Single submitter
-
AFF3 p.Asn25Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asn751Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asp369Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asp43His
Uncertain significance
Single submitter
KINSSHIP syndrome
-
AFF3 p.Asp598Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Asp612Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Asp680Asn Uncertain significance Single submitter
-
AFF3 p.Asp771Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Asp972His Uncertain significance Single submitter
- AFF3 p.Glu444Lys Uncertain significance Single submitter
-
AFF3 p.Glu457Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Gly1108Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Gly544Asp Uncertain significance Single submitter
- AFF3 p.His1082Gln Uncertain significance Single submitter
-
AFF3 p.Ile778Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Leu943Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Lys585Asn Uncertain significance Single submitter
- AFF3 p.Lys97Arg Uncertain significance Single submitter
-
AFF3 p.Met1043Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Met238Arg
Likely pathogenic
Single submitter
AFF3-associated disorder
- AFF3 p.Met238Thr Likely pathogenic Single submitter
-
AFF3 p.Phe331Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Pro104Leu Uncertain significance Single submitter
-
AFF3 p.Pro1117Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro321Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Pro571Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser1137Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser418Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Ser419Gly Likely benign Single submitter
-
AFF3 p.Ser421Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser421Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Ser422Thr Uncertain significance Single submitter
- AFF3 p.Ser423Ile Uncertain significance Single submitter
-
AFF3 p.Ser644Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser699Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser717Asn
Likely benign
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser717Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser842Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ser854Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Ser954Cys Benign Single submitter
-
AFF3 p.Ser976Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Thr129Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AFF3 p.Thr535Ile Uncertain significance Single submitter
-
AFF3 p.Tyr20Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val1036Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val1130Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val259Met
Conflicting
Single submitter
Inborn genetic diseases
-
AFF3 p.Val554Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val556Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val556Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Val618Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFF3 p.Ala233Ser
Pathogenic
No assertion criteria
KINSSHIP syndrome
-
AFF3 p.Pro231Ser
Pathogenic
No assertion criteria
KINSSHIP syndrome
-
AFF3 p.Val235Gly
Pathogenic
No assertion criteria
KINSSHIP syndrome
All AFF3 variants
Pathogenic 6
- p.Ala233Thr Multiple submitters KINSSHIP syndrome ⚠
- p.Pro231Arg Single submitter AFF3-related neurodevelopmental disorders
- p.Ala233Ser No assertion criteria KINSSHIP syndrome ⚠
- p.Pro231Leu No assertion criteria KINSSHIP syndrome
- p.Pro231Ser No assertion criteria KINSSHIP syndrome ⚠
- p.Val235Gly No assertion criteria KINSSHIP syndrome ⚠
Pathogenic/Likely pathogenic 1
- p.Ala233Val Multiple submitters KINSSHIP syndrome ⚠
Likely pathogenic 5
- p.Gln139fs Single submitter
- p.Met238Arg Single submitter AFF3-associated disorder ⚠
- p.Met238Thr Single submitter ⚠
- p.Ser517fs Single submitter KINSSHIP syndrome
- p.Thr808Ala Single submitter KINSSHIP syndrome ⚠
Conflicting classifications of pathogenicity 9
- p.Ala1223Thr Single submitter Inborn genetic diseases ⚠
- p.Ala458Thr Single submitter Inborn genetic diseases ⚠
- p.Ala791Thr Single submitter Inborn genetic diseases ⚠
- p.Arg947Gln Single submitter Inborn genetic diseases ⚠
- p.Gly927Ser Single submitter Inborn genetic diseases ⚠
- p.Thr298Ile Single submitter Inborn genetic diseases ⚠
- p.Thr594_Ala596delinsSer Single submitter KINSSHIP syndrome
- p.Val259Met Single submitter Inborn genetic diseases ⚠
- p.Val500Leu Single submitter ⚠
Benign 13
- p.Ala279= Multiple submitters
- p.Ala396= Multiple submitters
- p.Val227= Multiple submitters
- c.3286-19T>C Single submitter
- p.Asp598fs Single submitter KINSSHIP syndrome
- p.Gly359= Single submitter
- p.Ser954Cys Single submitter ⚠
- p.Val191= Single submitter
- c.2591+5G>A No assertion criteria AFF3-related disorder
- c.922-10C>T No assertion criteria AFF3-related disorder
- p.Gln922= No assertion criteria AFF3-related disorder
- p.Pro563= No assertion criteria AFF3-related disorder
- p.Thr594fs No assertion criteria AFF3-related disorder
Benign/Likely benign 1
- p.Thr257= Multiple submitters
Likely benign 56
- p.Ala1158= Multiple submitters
- p.Ala712Thr Multiple submitters
- p.Arg1186Gln Multiple submitters
- c.1091+19936G>T Single submitter
- c.1371+7G>A Single submitter
- c.175-5T>C Single submitter
- c.2592-5T>C Single submitter
- c.2592-8T>A Single submitter
- c.-144-348A>G Single submitter
- p.Ala1139Thr Single submitter Inborn genetic diseases
- p.Ala118= Single submitter
- p.Ala391Thr Single submitter Inborn genetic diseases
- p.Ala396Thr Single submitter
- p.Ala555= Single submitter
- p.Ala561= Single submitter
- p.Ala596= Single submitter
- p.Arg28Trp Single submitter KINSSHIP syndrome
- p.Arg961Lys Single submitter
- p.Asn1138= Single submitter
- p.Asn494Ser Single submitter
- p.Asn574= Single submitter
- p.Asn905Ser Single submitter
- p.Asp239= Single submitter
- p.Asp77= Single submitter
- p.Gln159= Single submitter
- p.Glu623= Single submitter
- p.Gly420Ser Single submitter Inborn genetic diseases
- p.Ile108= Single submitter
- p.Ile734= Single submitter
- p.Lys543= Single submitter
- p.Phe970= Single submitter
- p.Pro1106= Single submitter Inborn genetic diseases
- p.Pro218= Single submitter
- p.Pro551= Single submitter
- p.Pro952= Single submitter
- p.Ser123= Single submitter
- p.Ser253= Single submitter
- p.Ser419Gly Single submitter ⚠
- p.Ser436= Single submitter
- p.Ser595_Ala596del Single submitter
- p.Ser683= Single submitter
- p.Ser717Asn Single submitter Inborn genetic diseases ⚠
- p.Ser850Asn Single submitter Inborn genetic diseases
- p.Thr129= Single submitter
- p.Thr594Ser Single submitter
- p.Tyr57= Single submitter
- p.Arg390= No assertion criteria AFF3-related disorder
- p.Asn825= No assertion criteria AFF3-related disorder
- p.Gln399= No assertion criteria AFF3-related disorder
- p.Glu687= No assertion criteria AFF3-related disorder
- p.Gly166= No assertion criteria AFF3-related disorder
- p.His452Asp No assertion criteria AFF3-related disorder
- p.Lys465= No assertion criteria AFF3-related disorder
- p.Lys769= No assertion criteria AFF3-related disorder
- p.Pro456= No assertion criteria AFF3-related disorder
- p.Tyr1172= No assertion criteria AFF3-related disorder
Uncertain significance 211
- p.Ile1147Asn Multiple submitters Inborn genetic diseases ⚠
- p.Leu370Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser222Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr950Met Multiple submitters Inborn genetic diseases ⚠
- c.1091+1G>A Single submitter
- c.1091+27078C>G Single submitter
- c.1144-2A>G Single submitter KINSSHIP syndrome
- c.1185-3C>T Single submitter
- c.53+41939G>A Single submitter KINSSHIP syndrome
- c.922-1G>A Single submitter
- c.-64-274CGG[(797_850 Single submitter KINSSHIP syndrome
- p.Ala1008Thr Single submitter ⚠
- p.Ala1100Val Single submitter Inborn genetic diseases ⚠
- p.Ala1103Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1103Val Single submitter Inborn genetic diseases ⚠
- p.Ala1141Ser Single submitter Inborn genetic diseases ⚠
- p.Ala1182Thr Single submitter ⚠
- p.Ala118Thr Single submitter Inborn genetic diseases ⚠
- p.Ala162= Single submitter
- p.Ala201Pro Single submitter Inborn genetic diseases ⚠
- p.Ala383Thr Single submitter Inborn genetic diseases ⚠
- p.Ala536Pro Single submitter Inborn genetic diseases ⚠
- p.Ala552Thr Single submitter Inborn genetic diseases ⚠
- p.Ala560Ser Single submitter KINSSHIP syndrome ⚠
- p.Ala572Ser Single submitter Inborn genetic diseases ⚠
- p.Ala583Gly Single submitter Inborn genetic diseases ⚠
- p.Ala609Ser Single submitter Inborn genetic diseases ⚠
- p.Ala610Pro Single submitter Inborn genetic diseases ⚠
- p.Ala611_Asp612insAlaAla Single submitter KINSSHIP syndrome
- p.Ala700Val Single submitter Inborn genetic diseases ⚠
- p.Ala855Val Single submitter Inborn genetic diseases ⚠
- p.Ala886Pro Single submitter Inborn genetic diseases ⚠
- p.Ala886Thr Single submitter ⚠
- p.Ala919Val Single submitter Inborn genetic diseases ⚠
- p.Arg182Trp Single submitter Inborn genetic diseases ⚠
- p.Arg590His Single submitter Inborn genetic diseases ⚠
- p.Arg604Gln Single submitter Inborn genetic diseases ⚠
- p.Arg638Leu Single submitter KINSSHIP syndrome ⚠
- p.Arg777Gly Single submitter Inborn genetic diseases ⚠
- p.Arg821Gly Single submitter Inborn genetic diseases ⚠
- p.Arg877Trp Single submitter Inborn genetic diseases ⚠
- p.Arg901Gln Single submitter Inborn genetic diseases ⚠
- p.Arg947Gly Single submitter Inborn genetic diseases ⚠
- p.Arg975Cys Single submitter Inborn genetic diseases ⚠
- p.Asn1052Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1096Ser Single submitter ⚠
- p.Asn1123His Single submitter Inborn genetic diseases ⚠
- p.Asn1138Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn1166Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1190Ser Single submitter ⚠
- p.Asn188Ser Single submitter Inborn genetic diseases ⚠
- p.Asn25His Single submitter ⚠
- p.Asn25Ser Single submitter Inborn genetic diseases ⚠
- p.Asn358Asp Single submitter ⚠
- p.Asn727Ser Single submitter Inborn genetic diseases ⚠
- p.Asn751Ile Single submitter Inborn genetic diseases ⚠
- p.Asn872Asp Single submitter Inborn genetic diseases ⚠
- p.Asn936Asp Single submitter Inborn genetic diseases ⚠
- p.Asn937del Single submitter AFF3-related disorder
- p.Asp109Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1179Asn Single submitter ⚠
- p.Asp246His Single submitter KINSSHIP syndrome ⚠
- p.Asp335His Single submitter ⚠
- p.Asp357Gly Single submitter Inborn genetic diseases ⚠
- p.Asp368Gly Single submitter Inborn genetic diseases ⚠
- p.Asp369Asn Single submitter Inborn genetic diseases ⚠
- p.Asp43His Single submitter KINSSHIP syndrome ⚠
- p.Asp506Glu Single submitter KINSSHIP syndrome ⚠
- p.Asp598Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp612Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp680Asn Single submitter ⚠
- p.Asp771Asn Single submitter Inborn genetic diseases ⚠
- p.Asp828Asn Single submitter Inborn genetic diseases ⚠
- p.Asp920Asn Single submitter Inborn genetic diseases ⚠
- p.Asp972His Single submitter ⚠
- p.Cys301Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys507Tyr Single submitter ⚠
- p.Cys647Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln1133His Single submitter Inborn genetic diseases ⚠
- p.Gln159Arg Single submitter Inborn genetic diseases ⚠
- p.Gln949Glu Single submitter Inborn genetic diseases ⚠
- p.Glu1013Lys Single submitter Inborn genetic diseases ⚠
- p.Glu444Lys Single submitter ⚠
- p.Glu446Asp Single submitter Inborn genetic diseases ⚠
- p.Glu457Gln Single submitter Inborn genetic diseases ⚠
- p.Glu457Lys Single submitter Inborn genetic diseases ⚠
- p.Glu492Lys Single submitter Inborn genetic diseases ⚠
- p.Glu502Lys Single submitter Inborn genetic diseases ⚠
- p.Glu606fs Single submitter AFF3-related disorder
- p.Glu606Lys Single submitter Inborn genetic diseases ⚠
- p.Glu687del Single submitter
- p.Glu785Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1015Ter Single submitter
- p.Gly1108Arg Single submitter Inborn genetic diseases ⚠
- p.Gly322Val Single submitter Inborn genetic diseases ⚠
- p.Gly349Val Single submitter Inborn genetic diseases ⚠
- p.Gly412Asp Single submitter Inborn genetic diseases ⚠
- p.Gly420_Ser426del Single submitter
- p.Gly544Asp Single submitter ⚠
- p.Gly584Ala Single submitter Inborn genetic diseases ⚠
- p.Gly615Glu Single submitter Inborn genetic diseases ⚠
- p.Gly715Arg Single submitter Inborn genetic diseases ⚠
- p.Gly837Arg Single submitter Inborn genetic diseases ⚠
- p.Gly959Ser Single submitter Inborn genetic diseases ⚠
- p.His1082Asp Single submitter ⚠
- p.His1082Gln Single submitter ⚠
- p.His211Asn Single submitter AFF3-related disorder ⚠
- p.His260Arg Single submitter Inborn genetic diseases ⚠
- p.His478Asp Single submitter Inborn genetic diseases ⚠
- p.His781Gln Single submitter Inborn genetic diseases ⚠
- p.His889Gln Single submitter AFF3-related disorder ⚠
- p.His935Tyr Single submitter Inborn genetic diseases ⚠
- p.His989Tyr Single submitter ⚠
- p.Ile1039Leu Single submitter Inborn genetic diseases ⚠
- p.Ile523Thr Single submitter Inborn genetic diseases ⚠
- p.Ile69Asn Single submitter Inborn genetic diseases ⚠
- p.Ile726Phe Single submitter Inborn genetic diseases ⚠
- p.Ile778Phe Single submitter Inborn genetic diseases ⚠
- p.Leu14Phe Single submitter ⚠
- p.Leu172Val Single submitter Inborn genetic diseases ⚠
- p.Leu281Pro Single submitter Inborn genetic diseases ⚠
- p.Leu389Pro Single submitter Inborn genetic diseases ⚠
- p.Leu641Val Single submitter Inborn genetic diseases ⚠
- p.Leu655Ile Single submitter Inborn genetic diseases ⚠
- p.Leu681Val Single submitter ⚠
- p.Leu753fs Single submitter
- p.Leu943Phe Single submitter Inborn genetic diseases ⚠
- p.Lys271Thr Single submitter AFF3-related disorder ⚠
- p.Lys474Arg Single submitter Inborn genetic diseases ⚠
- p.Lys479Met Single submitter ⚠
- p.Lys509Glu Single submitter Inborn genetic diseases ⚠
- p.Lys543Ile Single submitter Inborn genetic diseases ⚠
- p.Lys585Asn Single submitter ⚠
- p.Lys661Arg Single submitter Inborn genetic diseases ⚠
- p.Lys833Asn Single submitter Inborn genetic diseases ⚠
- p.Lys833Glu Single submitter Inborn genetic diseases ⚠
- p.Lys97Arg Single submitter ⚠
- p.Met1023Val Single submitter ⚠
- p.Met1043Val Single submitter Inborn genetic diseases ⚠
- p.Phe331Leu Single submitter Inborn genetic diseases ⚠
- p.Pro104_Val105insGlnThrPro Single submitter
- p.Pro104Leu Single submitter ⚠
- p.Pro1106Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1117Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1119_Met1120insSerPro Single submitter
- p.Pro321Leu Single submitter Inborn genetic diseases ⚠
- p.Pro321Ser Single submitter Inborn genetic diseases ⚠
- p.Pro332Thr Single submitter AFF3-related disorder ⚠
- p.Pro356fs Single submitter
- p.Pro408Ser Single submitter Inborn genetic diseases ⚠
- p.Pro451Arg Single submitter Inborn genetic diseases ⚠
- p.Pro477Thr Single submitter Inborn genetic diseases ⚠
- p.Pro480Ser Single submitter Inborn genetic diseases ⚠
- p.Pro499Gln Single submitter Inborn genetic diseases ⚠
- p.Pro516Ser Single submitter Inborn genetic diseases ⚠
- p.Pro550Ala Single submitter Inborn genetic diseases ⚠
- p.Pro568Thr Single submitter Inborn genetic diseases ⚠
- p.Pro571Leu Single submitter Inborn genetic diseases ⚠
- p.Pro689Arg Single submitter ⚠
- p.Pro801Gln Single submitter Inborn genetic diseases ⚠
- p.Pro801Leu Single submitter Inborn genetic diseases ⚠
- p.Pro955Ser Single submitter Inborn genetic diseases ⚠
- p.Ser1110Asn Single submitter ⚠
- p.Ser1137Thr Single submitter Inborn genetic diseases ⚠
- p.Ser1140Thr Single submitter Inborn genetic diseases ⚠
- p.Ser116Ter Single submitter
- p.Ser255Leu Single submitter Inborn genetic diseases ⚠
- p.Ser258Thr Single submitter Inborn genetic diseases ⚠
- p.Ser293delinsThrAsn Single submitter
- p.Ser418Gly Single submitter Inborn genetic diseases ⚠
- p.Ser421Arg Single submitter Inborn genetic diseases ⚠
- p.Ser421Thr Single submitter Inborn genetic diseases ⚠
- p.Ser422Thr Single submitter ⚠
- p.Ser423Ile Single submitter ⚠
- p.Ser491Leu Single submitter Inborn genetic diseases ⚠
- p.Ser644Phe Single submitter Inborn genetic diseases ⚠
- p.Ser699Phe Single submitter Inborn genetic diseases ⚠
- p.Ser717Cys Single submitter Inborn genetic diseases ⚠
- p.Ser776Cys Single submitter Inborn genetic diseases ⚠
- p.Ser806Leu Single submitter Inborn genetic diseases ⚠
- p.Ser842Phe Single submitter Inborn genetic diseases ⚠
- p.Ser842Pro Single submitter Inborn genetic diseases ⚠
- p.Ser843Pro Single submitter ⚠
- p.Ser854Phe Single submitter Inborn genetic diseases ⚠
- p.Ser976Gly Single submitter Inborn genetic diseases ⚠
- p.Thr129Ile Single submitter Inborn genetic diseases ⚠
- p.Thr163Ile Single submitter Inborn genetic diseases ⚠
- p.Thr535Ile Single submitter ⚠
- p.Thr646Ile Single submitter Inborn genetic diseases ⚠
- p.Thr847Ile Single submitter ⚠
- p.Thr931Met Single submitter Inborn genetic diseases ⚠
- p.Tyr20Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr688Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr688His Single submitter Inborn genetic diseases ⚠
- p.Tyr891Ter Single submitter
- p.Val1036Ile Single submitter Inborn genetic diseases ⚠
- p.Val1130Met Single submitter Inborn genetic diseases ⚠
- p.Val113Ile Single submitter Inborn genetic diseases ⚠
- p.Val1148Ile Single submitter Inborn genetic diseases ⚠
- p.Val189Gly Single submitter Inborn genetic diseases ⚠
- p.Val189Met Single submitter Inborn genetic diseases ⚠
- p.Val191Ala Single submitter Inborn genetic diseases ⚠
- p.Val191Met Single submitter Inborn genetic diseases ⚠
- p.Val554Leu Single submitter Inborn genetic diseases ⚠
- p.Val556Leu Single submitter Inborn genetic diseases ⚠
- p.Val556Met Single submitter Inborn genetic diseases ⚠
- p.Val558Ala Single submitter Inborn genetic diseases ⚠
- p.Val567Ala Single submitter Inborn genetic diseases ⚠
- p.Val618Met Single submitter Inborn genetic diseases ⚠
- p.Val619Gly Single submitter Inborn genetic diseases ⚠
- p.Ala203Ser No assertion criteria AFF3-related disorder ⚠