RFWD3 — 696 ClinVar variants
All ClinVar germline RFWD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 377 flagged for review →
2 Pathogenic · 1 Likely pathogenic · 14 Conflicting · 16 Benign · 6 Benign/Likely benign · 230 Likely benign · 427 Uncertain significance
Full RFWD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 377
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 agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- RFWD3 p.Asn122Ser Conflicting Single submitter
- RFWD3 p.Asp614Asn Conflicting Single submitter
- RFWD3 p.Asp743Asn Conflicting Single submitter
- RFWD3 p.Gly430Ser Conflicting Single submitter
- RFWD3 p.Ile464Val Conflicting Single submitter
- RFWD3 p.Ile61Val Conflicting Single submitter
- RFWD3 p.Ile681Val Conflicting Single submitter
- RFWD3 p.Met120Val Conflicting Single submitter
- RFWD3 p.Met26Val Conflicting Single submitter
- RFWD3 p.Met279Val Conflicting Single submitter
- RFWD3 p.Ser408Asn Conflicting Single submitter
- RFWD3 p.Thr187Asn Conflicting Single submitter
- RFWD3 p.Val569Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 309
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 309
- RFWD3 p.Ala22Pro Uncertain significance Multiple submitters
- RFWD3 p.Ala231Pro Uncertain significance Multiple submitters
- RFWD3 p.Ala244Val Uncertain significance Multiple submitters
- RFWD3 p.Ala24Val Uncertain significance Multiple submitters
- RFWD3 p.Ala372Thr Uncertain significance Multiple submitters
- RFWD3 p.Ala447Gly Uncertain significance Multiple submitters
- RFWD3 p.Ala581Gly Uncertain significance Multiple submitters
- RFWD3 p.Ala5Thr Uncertain significance Multiple submitters
-
RFWD3 p.Ala732Gly
Uncertain significance
Multiple submitters
Fanconi anemia, complementation group W
- RFWD3 p.Arg357His Uncertain significance Multiple submitters
- RFWD3 p.Arg380Gln Uncertain significance Multiple submitters
- RFWD3 p.Arg451Trp Uncertain significance Multiple submitters
- RFWD3 p.Arg540Cys Uncertain significance Multiple submitters
- RFWD3 p.Arg673Gln Uncertain significance Multiple submitters
- RFWD3 p.Arg756Cys Uncertain significance Multiple submitters
- RFWD3 p.Asn143Ile Uncertain significance Multiple submitters
- RFWD3 p.Asn710Ser Uncertain significance Multiple submitters
- RFWD3 p.Asn724His Uncertain significance Multiple submitters
- RFWD3 p.Asp256Tyr Uncertain significance Multiple submitters
-
RFWD3 p.Cys696Trp
Uncertain significance
Multiple submitters
Fanconi anemia
- RFWD3 p.Gln323Arg Uncertain significance Multiple submitters
- RFWD3 p.Gln323Glu Uncertain significance Multiple submitters
- RFWD3 p.Gln418Pro Uncertain significance Multiple submitters
-
RFWD3 p.Gln577His
Uncertain significance
Multiple submitters
Fanconi anemia, complementation group W
- RFWD3 p.Gln64Glu Uncertain significance Multiple submitters
- RFWD3 p.Gln741His Uncertain significance Multiple submitters
- RFWD3 p.Glu619Gln Uncertain significance Multiple submitters
- RFWD3 p.Gly108Val Uncertain significance Multiple submitters
- RFWD3 p.Gly226Arg Uncertain significance Multiple submitters
- RFWD3 p.Gly258Asp Uncertain significance Multiple submitters
- RFWD3 p.Gly32Glu Uncertain significance Multiple submitters
- RFWD3 p.Gly32Val Uncertain significance Multiple submitters
- RFWD3 p.Gly502Ala Uncertain significance Multiple submitters
- RFWD3 p.His110Tyr Uncertain significance Multiple submitters
- RFWD3 p.Ile255Met Uncertain significance Multiple submitters
- RFWD3 p.Ile255Val Uncertain significance Multiple submitters
- RFWD3 p.Ile289Val Uncertain significance Multiple submitters
- RFWD3 p.Lys658Glu Uncertain significance Multiple submitters
- RFWD3 p.Met495Val Uncertain significance Multiple submitters
-
RFWD3 p.Pro148Leu
Uncertain significance
Multiple submitters
Fanconi anemia, complementation group W
- RFWD3 p.Pro177Ser Uncertain significance Multiple submitters
- RFWD3 p.Pro265Leu Uncertain significance Multiple submitters
- RFWD3 p.Pro272Ser Uncertain significance Multiple submitters
- RFWD3 p.Pro40Ala Uncertain significance Multiple submitters
- RFWD3 p.Pro55Ala Uncertain significance Multiple submitters
- RFWD3 p.Ser171Gly Uncertain significance Multiple submitters
- RFWD3 p.Ser218Gly Uncertain significance Multiple submitters
- RFWD3 p.Ser266Cys Uncertain significance Multiple submitters
- RFWD3 p.Ser276Ala Uncertain significance Multiple submitters
- RFWD3 p.Ser408Gly Uncertain significance Multiple submitters
- RFWD3 p.Ser507Thr Uncertain significance Multiple submitters
- RFWD3 p.Thr318Met Uncertain significance Multiple submitters
- RFWD3 p.Thr718Ala Uncertain significance Multiple submitters
- RFWD3 p.Tyr313His Uncertain significance Multiple submitters
- RFWD3 p.Val10Asp Uncertain significance Multiple submitters
- RFWD3 p.Val341Ile Uncertain significance Multiple submitters
-
RFWD3 p.Val397Leu
Uncertain significance
Multiple submitters
Fanconi anemia, complementation group W
- RFWD3 p.Val49Ile Uncertain significance Multiple submitters
- RFWD3 p.Val532Met Uncertain significance Multiple submitters
- RFWD3 p.Val576Leu Uncertain significance Multiple submitters
- RFWD3 p.Ala172Thr Uncertain significance Single submitter
- RFWD3 p.Ala176Val Uncertain significance Single submitter
- RFWD3 p.Ala222Val Uncertain significance Single submitter
- RFWD3 p.Ala277Val Uncertain significance Single submitter
- RFWD3 p.Ala349Val Uncertain significance Single submitter
- RFWD3 p.Ala41Val Uncertain significance Single submitter
- RFWD3 p.Ala447Thr Uncertain significance Single submitter
- RFWD3 p.Ala447Val Uncertain significance Single submitter
- RFWD3 p.Ala504Val Uncertain significance Single submitter
- RFWD3 p.Ala538Val Uncertain significance Single submitter
- RFWD3 p.Ala552Asp Uncertain significance Single submitter
- RFWD3 p.Ala5Val Uncertain significance Single submitter
- RFWD3 p.Ala601Pro Uncertain significance Single submitter
- RFWD3 p.Ala65Val Uncertain significance Single submitter
- RFWD3 p.Ala731Gly Uncertain significance Single submitter
- RFWD3 p.Ala761Ser Uncertain significance Single submitter
- RFWD3 p.Arg159Gln Uncertain significance Single submitter
- RFWD3 p.Arg159Leu Uncertain significance Single submitter
- RFWD3 p.Arg159Trp Uncertain significance Single submitter
- RFWD3 p.Arg168Ser Uncertain significance Single submitter
- RFWD3 p.Arg201Gly Uncertain significance Single submitter
- RFWD3 p.Arg301Gly Uncertain significance Single submitter
- RFWD3 p.Arg301Trp Uncertain significance Single submitter
- RFWD3 p.Arg325Gln Uncertain significance Single submitter
- RFWD3 p.Arg357Cys Uncertain significance Single submitter
- RFWD3 p.Arg369Ser Uncertain significance Single submitter
- RFWD3 p.Arg396Cys Uncertain significance Single submitter
- RFWD3 p.Arg396His Uncertain significance Single submitter
- RFWD3 p.Arg415Lys Uncertain significance Single submitter
- RFWD3 p.Arg451Gln Uncertain significance Single submitter
- RFWD3 p.Arg451Leu Uncertain significance Single submitter
- RFWD3 p.Arg510Gly Uncertain significance Single submitter
- RFWD3 p.Arg540His Uncertain significance Single submitter
- RFWD3 p.Arg570Pro Uncertain significance Single submitter
- RFWD3 p.Arg596Gly Uncertain significance Single submitter
- RFWD3 p.Arg648Gln Uncertain significance Single submitter
- RFWD3 p.Arg655Ser Uncertain significance Single submitter
- RFWD3 p.Arg756His Uncertain significance Single submitter
- RFWD3 p.Arg756Ser Uncertain significance Single submitter
- RFWD3 p.Asn202His Uncertain significance Single submitter
- RFWD3 p.Asn331Ser Uncertain significance Single submitter
- RFWD3 p.Asn410His Uncertain significance Single submitter
- RFWD3 p.Asn486Asp Uncertain significance Single submitter
- RFWD3 p.Asn486Thr Uncertain significance Single submitter
- RFWD3 p.Asn645Tyr Uncertain significance Single submitter
- RFWD3 p.Asn713Thr Uncertain significance Single submitter
- RFWD3 p.Asn95Ser Uncertain significance Single submitter
- RFWD3 p.Asp170His Uncertain significance Single submitter
- RFWD3 p.Asp388Asn Uncertain significance Single submitter
- RFWD3 p.Asp388His Uncertain significance Single submitter
- RFWD3 p.Asp399Glu Uncertain significance Single submitter
- RFWD3 p.Asp42Gly Uncertain significance Single submitter
- RFWD3 p.Asp568Val Uncertain significance Single submitter
- RFWD3 p.Asp675Gly Uncertain significance Single submitter
- RFWD3 p.Asp720Tyr Uncertain significance Single submitter
- RFWD3 p.Asp79Glu Uncertain significance Single submitter
- RFWD3 p.Asp9Val Uncertain significance Single submitter
- RFWD3 p.Cys327Arg Uncertain significance Single submitter
-
RFWD3 p.Cys456Ser
Uncertain significance
Single submitter
Fanconi anemia, complementation group W
- RFWD3 p.Cys545Tyr Uncertain significance Single submitter
- RFWD3 p.Cys682Phe Uncertain significance Single submitter
- RFWD3 p.Gln104Arg Uncertain significance Single submitter
- RFWD3 p.Gln11Glu Uncertain significance Single submitter
- RFWD3 p.Gln11His Uncertain significance Single submitter
- RFWD3 p.Gln167Lys Uncertain significance Single submitter
- RFWD3 p.Gln183Glu Uncertain significance Single submitter
- RFWD3 p.Gln188Glu Uncertain significance Single submitter
- RFWD3 p.Gln188Leu Uncertain significance Single submitter
- RFWD3 p.Gln20Arg Uncertain significance Single submitter
- RFWD3 p.Gln264Arg Uncertain significance Single submitter
- RFWD3 p.Gln264Glu Uncertain significance Single submitter
- RFWD3 p.Gln268Arg Uncertain significance Single submitter
- RFWD3 p.Gln293His Uncertain significance Single submitter
- RFWD3 p.Gln30Arg Uncertain significance Single submitter
- RFWD3 p.Gln371Glu Uncertain significance Single submitter
- RFWD3 p.Gln37His Uncertain significance Single submitter
- RFWD3 p.Gln384Arg Uncertain significance Single submitter
- RFWD3 p.Gln394His Uncertain significance Single submitter
- RFWD3 p.Gln407Arg Uncertain significance Single submitter
- RFWD3 p.Gln409His Uncertain significance Single submitter
- RFWD3 p.Gln412Glu Uncertain significance Single submitter
- RFWD3 p.Gln412Lys Uncertain significance Single submitter
- RFWD3 p.Gln439Arg Uncertain significance Single submitter
- RFWD3 p.Gln47Glu Uncertain significance Single submitter
- RFWD3 p.Gln582Glu Uncertain significance Single submitter
- RFWD3 p.Gln582His Uncertain significance Single submitter
- RFWD3 p.Gln642Glu Uncertain significance Single submitter
- RFWD3 p.Gln685His Uncertain significance Single submitter
- RFWD3 p.Glu18Asp Uncertain significance Single submitter
- RFWD3 p.Glu199Asp Uncertain significance Single submitter
Predictors split 55
The independent predictors disagree with each other — read with care.
-
RFWD3 p.Cys548Tyr
Uncertain significance
Multiple submitters
Fanconi anemia, complementation group W
- RFWD3 p.Gln37Arg Uncertain significance Multiple submitters
- RFWD3 p.Glu18Lys Uncertain significance Multiple submitters
- RFWD3 p.Ser361Phe Benign/Likely benign Multiple submitters
- RFWD3 p.Thr529Arg Uncertain significance Multiple submitters
- RFWD3 p.Val716Met Uncertain significance Multiple submitters
- RFWD3 p.Ala454Thr Likely benign Single submitter
- RFWD3 p.Ala454Val Uncertain significance Single submitter
- RFWD3 p.Ala723Pro Uncertain significance Single submitter
- RFWD3 p.Ala761Thr Uncertain significance Single submitter
- RFWD3 p.Arg345Gln Uncertain significance Single submitter
- RFWD3 p.Arg348Gly Uncertain significance Single submitter
- RFWD3 p.Arg585Ser Uncertain significance Single submitter
- RFWD3 p.Arg648Trp Uncertain significance Single submitter
- RFWD3 p.Asn122Lys Uncertain significance Single submitter
- RFWD3 p.Asn331Lys Uncertain significance Single submitter
- RFWD3 p.Asp299Gly Uncertain significance Single submitter
- RFWD3 p.Asp623Gly Uncertain significance Single submitter
- RFWD3 p.Asp79His Uncertain significance Single submitter
- RFWD3 p.Asp79Tyr Uncertain significance Single submitter
- RFWD3 p.Cys650Tyr Uncertain significance Single submitter
- RFWD3 p.Glu373Lys Uncertain significance Single submitter
- RFWD3 p.Gly476Val Uncertain significance Single submitter
- RFWD3 p.His688Leu Uncertain significance Single submitter
- RFWD3 p.Ile316Leu Uncertain significance Single submitter
- RFWD3 p.Leu291Val Uncertain significance Single submitter
- RFWD3 p.Leu667Met Uncertain significance Single submitter
- RFWD3 p.Leu667Val Uncertain significance Single submitter
- RFWD3 p.Met133Ile Uncertain significance Single submitter
- RFWD3 p.Met481Ile Uncertain significance Single submitter
- RFWD3 p.Met487Val Uncertain significance Single submitter
- RFWD3 p.Met670Thr Uncertain significance Single submitter
- RFWD3 p.Phe182Leu Uncertain significance Single submitter
- RFWD3 p.Phe477Leu Uncertain significance Single submitter
- RFWD3 p.Phe641Leu Uncertain significance Single submitter
- RFWD3 p.Pro38Arg Uncertain significance Single submitter
- RFWD3 p.Ser212Arg Uncertain significance Single submitter
- RFWD3 p.Ser213Ile Uncertain significance Single submitter
- RFWD3 p.Ser460Ile Uncertain significance Single submitter
- RFWD3 p.Ser468Pro Uncertain significance Single submitter
- RFWD3 p.Ser483Gly Uncertain significance Single submitter
- RFWD3 p.Ser592Leu Uncertain significance Single submitter
- RFWD3 p.Ser599Leu Uncertain significance Single submitter
- RFWD3 p.Ser62Cys Uncertain significance Single submitter
- RFWD3 p.Ser647Pro Uncertain significance Single submitter
- RFWD3 p.Ser671Tyr Uncertain significance Single submitter
- RFWD3 p.Ser735Trp Uncertain significance Single submitter
- RFWD3 p.Thr531Ile Uncertain significance Single submitter
- RFWD3 p.Thr572Arg Uncertain significance Single submitter
- RFWD3 p.Tyr455Cys Uncertain significance Single submitter
- RFWD3 p.Tyr536Ser Uncertain significance Single submitter
- RFWD3 p.Tyr556Cys Uncertain significance Single submitter
- RFWD3 p.Tyr567His Uncertain significance Single submitter
- RFWD3 p.Val39Phe Uncertain significance Single submitter
-
RFWD3 p.Ile639Lys
Pathogenic
No assertion criteria
Fanconi anemia, complementation group W
All RFWD3 variants
Pathogenic 2
- p.Ile639Lys No assertion criteria Fanconi anemia, complementation group W ⚠
- p.Leu70fs No assertion criteria
Likely pathogenic 1
- p.Thr689fs Single submitter Fanconi anemia
Conflicting classifications of pathogenicity 14
- c.1426+6G>A Single submitter
- p.Asn122Ser Single submitter ⚠
- p.Asp614Asn Single submitter ⚠
- p.Asp743Asn Single submitter ⚠
- p.Gly430Ser Single submitter ⚠
- p.Ile464Val Single submitter ⚠
- p.Ile61Val Single submitter ⚠
- p.Ile681Val Single submitter ⚠
- p.Met120Val Single submitter ⚠
- p.Met26Val Single submitter ⚠
- p.Met279Val Single submitter ⚠
- p.Ser408Asn Single submitter ⚠
- p.Thr187Asn Single submitter ⚠
- p.Val569Met Single submitter ⚠
Benign 16
- c.1755-33G>A Multiple submitters Fanconi anemia, complementation group W
- p.Arg392= Multiple submitters
- p.Ile564Val Multiple submitters
- p.Pro541= Multiple submitters
- p.Thr404= Multiple submitters Fanconi anemia, complementation group W
- p.Thr90Asn Multiple submitters Fanconi anemia, complementation group W
- p.Val652= Multiple submitters
- c.1080-6C>T Single submitter
- c.1577+15dup Single submitter
- c.2182-19C>G Single submitter
- c.792+20A>T Single submitter
- p.Ala372= Single submitter
- p.Lys259Glu Single submitter
- p.Met367Thr Single submitter
- p.Pro680= Single submitter
- p.Tyr196= Single submitter
Benign/Likely benign 6
- c.1079+4GGT[3] Multiple submitters
- c.721+14C>T Multiple submitters
- p.Leu579= Multiple submitters
- p.Ser361Phe Multiple submitters ⚠
- p.Tyr536= Multiple submitters
- p.Val746= Multiple submitters
Likely benign 230
- c.1427-8T>C Multiple submitters
- c.1970-14T>C Multiple submitters
- c.2182-3T>C Multiple submitters
- c.721+11T>C Multiple submitters
- p.Gln64= Multiple submitters
- p.Glu528= Multiple submitters
- p.Gly164= Multiple submitters
- p.His336= Multiple submitters
- p.Ile255= Multiple submitters
- p.Leu459= Multiple submitters
- p.Met767Val Multiple submitters Fanconi anemia, complementation group W
- p.Pro74= Multiple submitters
- p.Ser735= Multiple submitters Fanconi anemia, complementation group W
- p.Thr443= Multiple submitters
- p.Tyr654= Multiple submitters
- p.Val340= Multiple submitters
- c.1079+12G>A Single submitter
- c.1079+12G>C Single submitter
- c.1079+14G>A Single submitter
- c.1079+16A>G Single submitter
- c.1079+19C>T Single submitter
- c.1079+20C>G Single submitter
- c.1079+20C>T Single submitter
- c.1080-19G>A Single submitter
- c.1080-6C>G Single submitter
- c.1080-8C>T Single submitter
- c.1194+18A>T Single submitter
- c.1194+19A>G Single submitter
- c.1195-12T>G Single submitter
- c.1195-14C>A Single submitter
- c.1195-6T>C Single submitter
- c.1426+12A>G Single submitter
- c.1426+9T>A Single submitter
- c.1427-15T>C Single submitter
- c.1427-16A>C Single submitter
- c.1427-16A>G Single submitter
- c.1427-6T>C Single submitter
- c.1577+13_1577+73del Single submitter
- c.1577+17A>C Single submitter
- c.1577+19T>C Single submitter
- c.1578-12G>A Single submitter
- c.1754+12C>T Single submitter
- c.1754+16C>T Single submitter
- c.1755-13_1755-11del Single submitter
- c.1755-20T>A Single submitter
- c.1755-7C>T Single submitter
- c.1969+13G>A Single submitter
- c.1969+9T>A Single submitter
- c.1969+9T>C Single submitter
- c.1970-15T>A Single submitter
- c.1970-7C>T Single submitter
- c.1970-9G>C Single submitter
- c.2181+14T>G Single submitter
- c.2181+9G>C Single submitter
- c.2182-13T>A Single submitter
- c.2182-14C>G Single submitter
- c.2182-5T>C Single submitter
- c.2182-6C>G Single submitter
- c.2182-9_2182-8del Single submitter
- c.518+11A>C Single submitter
- c.518+12T>C Single submitter
- c.518+17A>G Single submitter
- c.518+18T>C Single submitter
- c.519-18G>C Single submitter
- c.519-19T>C Single submitter
- c.519-4A>T Single submitter
- c.721+12A>G Single submitter
- c.721+13C>T Single submitter
- c.721+20T>G Single submitter
- c.722-17T>C Single submitter
- c.722-8C>T Single submitter
- c.792+14C>A Single submitter
- c.792+15A>G Single submitter
- c.792+19T>A Single submitter
- c.793-14T>C Single submitter
- c.793-7C>T Single submitter
- c.793-8C>A Single submitter
- c.987+16A>T Single submitter
- c.988-14A>G Single submitter
- c.988-14A>T Single submitter
- c.988-16C>T Single submitter
- c.988-20T>C Single submitter
- c.988-4T>G Single submitter
- c.*11G>A Single submitter
- p.Ala163= Single submitter
- p.Ala17= Single submitter
- p.Ala176= Single submitter
- p.Ala193= Single submitter
- p.Ala248= Single submitter
- p.Ala277= Single submitter
- p.Ala297Thr Single submitter
- p.Ala41= Single submitter
- p.Ala454Thr Single submitter ⚠
- p.Ala56= Single submitter
- p.Ala58= Single submitter
- p.Ala597= Single submitter
- p.Ala65= Single submitter
- p.Ala761= Single submitter
- p.Arg129= Single submitter
- p.Arg138= Single submitter
- p.Arg159= Single submitter
- p.Arg301= Single submitter
- p.Arg306= Single submitter
- p.Arg325= Single submitter
- p.Arg357= Single submitter
- p.Arg395= Single submitter
- p.Arg451= Single submitter
- p.Arg510= Single submitter
- p.Arg510Lys Single submitter
- p.Arg570= Single submitter
- p.Arg664= Single submitter
- p.Arg97= Single submitter
- p.Asn331= Single submitter
- p.Asn520Ser Single submitter
- p.Asn93= Single submitter
- p.Asp299= Single submitter
- p.Asp399= Single submitter
- p.Asp640= Single submitter
- p.Asp675= Single submitter
- p.Asp676= Single submitter
- p.Asp748= Single submitter
- p.Asp9= Single submitter
- p.Cys696= Single submitter
- p.Gln128= Single submitter
- p.Gln19= Single submitter
- p.Gln209Pro Single submitter
- p.Gln293= Single submitter
- p.Gln382= Single submitter
- p.Gln394= Single submitter
- p.Gln418= Single submitter
- p.Gln446= Single submitter
- p.Gln47= Single submitter
- p.Gln582= Single submitter
- p.Gln706= Single submitter
- p.Gln75= Single submitter
- p.Glu18Gly Single submitter
- p.Glu282= Single submitter
- p.Glu774= Single submitter
- p.Gly108= Single submitter
- p.Gly126Arg Single submitter
- p.Gly147= Single submitter
- p.Gly284= Single submitter
- p.Gly312= Single submitter
- p.Gly48= Single submitter
- p.His110= Single submitter
- p.His131= Single submitter
- p.His3= Single submitter
- p.His575= Single submitter
- p.His626= Single submitter
- p.His769= Single submitter
- p.Ile124= Single submitter
- p.Ile52= Single submitter
- p.Ile61= Single submitter
- p.Ile749= Single submitter
- p.Leu117= Single submitter
- p.Leu130= Single submitter
- p.Leu208= Single submitter
- p.Leu261= Single submitter
- p.Leu273= Single submitter
- p.Leu291= Single submitter
- p.Leu302= Single submitter
- p.Leu362= Single submitter
- p.Leu363= Single submitter
- p.Leu381= Single submitter
- p.Leu383= Single submitter
- p.Leu518= Single submitter
- p.Leu559= Single submitter
- p.Leu565= Single submitter
- p.Leu591= Single submitter
- p.Leu612= Single submitter
- p.Leu633= Single submitter
- p.Leu698= Single submitter
- p.Lys326= Single submitter
- p.Lys523= Single submitter
- p.Lys621= Single submitter
- p.Met149Val Single submitter
- p.Phe624= Single submitter
- p.Phe690= Single submitter
- p.Pro113= Single submitter
- p.Pro139= Single submitter
- p.Pro189= Single submitter
- p.Pro192= Single submitter
- p.Pro23Ser Single submitter
- p.Pro262= Single submitter
- p.Pro265= Single submitter
- p.Pro267= Single submitter
- p.Pro426= Single submitter
- p.Pro494= Single submitter
- p.Pro587= Single submitter
- p.Pro74Leu Single submitter
- p.Ser116= Single submitter
- p.Ser125= Single submitter
- p.Ser142= Single submitter
- p.Ser156= Single submitter
- p.Ser212= Single submitter
- p.Ser214= Single submitter
- p.Ser216= Single submitter
- p.Ser29= Single submitter
- p.Ser517= Single submitter
- p.Ser62= Single submitter
- p.Ser63= Single submitter
- p.Ser671= Single submitter
- p.Ser99= Single submitter
- p.Thr169= Single submitter
- p.Thr187= Single submitter
- p.Thr194Ala Single submitter
- p.Thr318= Single submitter
- p.Thr404Met Single submitter
- p.Thr484= Single submitter
- p.Thr521= Single submitter
- p.Thr525= Single submitter
- p.Thr531= Single submitter
- p.Thr535= Single submitter
- p.Thr611= Single submitter
- p.Thr653= Single submitter
- p.Thr66= Single submitter
- p.Thr661= Single submitter
- p.Thr695= Single submitter
- p.Thr700= Single submitter
- p.Thr742= Single submitter
- p.Thr762= Single submitter
- p.Tyr556= Single submitter
- p.Tyr567= Single submitter
- p.Tyr672= Single submitter
- p.Tyr771= Single submitter
- p.Val204= Single submitter
- p.Val341= Single submitter
- p.Val444= Single submitter
- p.Val532= Single submitter
- p.Arg648= No assertion criteria RFWD3-related disorder
Uncertain significance 427
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala22Pro Multiple submitters ⚠
- p.Ala231Pro Multiple submitters ⚠
- p.Ala244Val Multiple submitters ⚠
- p.Ala24Val Multiple submitters ⚠
- p.Ala372Thr Multiple submitters ⚠
- p.Ala447Gly Multiple submitters ⚠
- p.Ala581Gly Multiple submitters ⚠
- p.Ala5Thr Multiple submitters ⚠
- p.Ala732Gly Multiple submitters Fanconi anemia, complementation group W ⚠
- p.Arg301Gln Multiple submitters
- p.Arg357His Multiple submitters ⚠
- p.Arg380Gln Multiple submitters ⚠
- p.Arg451Trp Multiple submitters ⚠
- p.Arg540Cys Multiple submitters ⚠
- p.Arg673Gln Multiple submitters ⚠
- p.Arg756Cys Multiple submitters ⚠
- p.Asn143Ile Multiple submitters ⚠
- p.Asn710Ser Multiple submitters ⚠
- p.Asn724His Multiple submitters ⚠
- p.Asp256Tyr Multiple submitters ⚠
- p.Cys548Tyr Multiple submitters Fanconi anemia, complementation group W ⚠
- p.Cys696Trp Multiple submitters Fanconi anemia ⚠
- p.Gln323Arg Multiple submitters ⚠
- p.Gln323Glu Multiple submitters ⚠
- p.Gln37Arg Multiple submitters ⚠
- p.Gln418Pro Multiple submitters ⚠
- p.Gln577His Multiple submitters Fanconi anemia, complementation group W ⚠
- p.Gln64Glu Multiple submitters ⚠
- p.Gln741His Multiple submitters ⚠
- p.Glu18Lys Multiple submitters ⚠
- p.Glu619Gln Multiple submitters ⚠
- p.Gly108Val Multiple submitters ⚠
- p.Gly226Arg Multiple submitters ⚠
- p.Gly258Asp Multiple submitters ⚠
- p.Gly32Glu Multiple submitters ⚠
- p.Gly32Val Multiple submitters ⚠
- p.Gly502Ala Multiple submitters ⚠
- p.His110Tyr Multiple submitters ⚠
- p.Ile255Met Multiple submitters ⚠
- p.Ile255Val Multiple submitters ⚠
- p.Ile289Val Multiple submitters ⚠
- p.Lys658Glu Multiple submitters ⚠
- p.Met495Val Multiple submitters ⚠
- p.Pro148Leu Multiple submitters Fanconi anemia, complementation group W ⚠
- p.Pro177Ser Multiple submitters ⚠
- p.Pro265Leu Multiple submitters ⚠
- p.Pro272Ser Multiple submitters ⚠
- p.Pro40Ala Multiple submitters ⚠
- p.Pro55Ala Multiple submitters ⚠
- p.Pro603Leu Multiple submitters
- p.Pro656= Multiple submitters Fanconi anemia, complementation group W
- p.Ser171Gly Multiple submitters ⚠
- p.Ser218Gly Multiple submitters ⚠
- p.Ser266Cys Multiple submitters ⚠
- p.Ser276Ala Multiple submitters ⚠
- p.Ser408Gly Multiple submitters ⚠
- p.Ser507Thr Multiple submitters ⚠
- p.Ser526Asn Multiple submitters Fanconi anemia, complementation group W
- p.Thr318Met Multiple submitters ⚠
- p.Thr529Arg Multiple submitters ⚠
- p.Thr718Ala Multiple submitters ⚠
- p.Tyr313His Multiple submitters ⚠
- p.Val10Asp Multiple submitters ⚠
- p.Val341Ile Multiple submitters ⚠
- p.Val397Leu Multiple submitters Fanconi anemia, complementation group W ⚠
- p.Val49Ile Multiple submitters ⚠
- p.Val532Met Multiple submitters ⚠
- p.Val576Leu Multiple submitters ⚠
- p.Val716Met Multiple submitters ⚠
- c.1079+9_1079+10insGAAAAGGTAGGTGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA Single submitter
- c.1194+4C>T Single submitter
- c.1194+5G>A Single submitter
- c.1195-3T>C Single submitter
- c.1426+4_1426+5del Single submitter
- c.1577+4A>T Single submitter
- c.1578-14T>C Single submitter
- c.1754+3A>G Single submitter
- c.1754+6G>C Single submitter
- c.1755-12C>G Single submitter
- c.1969+12_1969+209del Single submitter
- c.1970-3T>C Single submitter
- c.2181+6C>T Single submitter
- c.518+4A>G Single submitter
- c.519-1G>A Single submitter
- c.519-4A>G Single submitter
- c.722-4_722-3delinsTT Single submitter
- c.793-2A>C Single submitter
- c.987+11T>G Single submitter
- c.987+6G>T Single submitter
- c.988-3T>C Single submitter
- p.Ala172Thr Single submitter ⚠
- p.Ala176Val Single submitter ⚠
- p.Ala222Val Single submitter ⚠
- p.Ala248del Single submitter
- p.Ala277Val Single submitter ⚠
- p.Ala349Val Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala447Thr Single submitter ⚠
- p.Ala447Val Single submitter ⚠
- p.Ala454Val Single submitter ⚠
- p.Ala504Val Single submitter ⚠
- p.Ala516Thr Single submitter
- p.Ala538Val Single submitter ⚠
- p.Ala552Asp Single submitter ⚠
- p.Ala5Val Single submitter ⚠
- p.Ala601Pro Single submitter ⚠
- p.Ala65Val Single submitter ⚠
- p.Ala723Pro Single submitter ⚠
- p.Ala731Gly Single submitter ⚠
- p.Ala761Ser Single submitter ⚠
- p.Ala761Thr Single submitter ⚠
- p.Arg154del Single submitter
- p.Arg159Gln Single submitter ⚠
- p.Arg159Leu Single submitter ⚠
- p.Arg159Trp Single submitter ⚠
- p.Arg168Ser Single submitter ⚠
- p.Arg201Gly Single submitter ⚠
- p.Arg301Gly Single submitter ⚠
- p.Arg301Trp Single submitter ⚠
- p.Arg325Gln Single submitter ⚠
- p.Arg325Ter Single submitter
- p.Arg345Gln Single submitter ⚠
- p.Arg345Ter Single submitter
- p.Arg348Gly Single submitter ⚠
- p.Arg357Cys Single submitter ⚠
- p.Arg369Ser Single submitter ⚠
- p.Arg396Cys Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg415Lys Single submitter ⚠
- p.Arg451Gln Single submitter ⚠
- p.Arg451Leu Single submitter ⚠
- p.Arg510Gly Single submitter ⚠
- p.Arg540His Single submitter ⚠
- p.Arg570Pro Single submitter ⚠
- p.Arg585Ser Single submitter ⚠
- p.Arg596Gly Single submitter ⚠
- p.Arg648Gln Single submitter ⚠
- p.Arg648Trp Single submitter ⚠
- p.Arg655Ser Single submitter ⚠
- p.Arg664Ter Single submitter
- p.Arg673Ter Single submitter
- p.Arg756His Single submitter ⚠
- p.Arg756Ser Single submitter ⚠
- p.Asn122Lys Single submitter ⚠
- p.Asn202His Single submitter ⚠
- p.Asn331Lys Single submitter ⚠
- p.Asn331Ser Single submitter ⚠
- p.Asn410His Single submitter ⚠
- p.Asn486Asp Single submitter ⚠
- p.Asn486Thr Single submitter ⚠
- p.Asn645Tyr Single submitter ⚠
- p.Asn713Thr Single submitter ⚠
- p.Asn95Ser Single submitter ⚠
- p.Asp170His Single submitter ⚠
- p.Asp299Gly Single submitter ⚠
- p.Asp388Asn Single submitter ⚠
- p.Asp388del Single submitter
- p.Asp388His Single submitter ⚠
- p.Asp399Glu Single submitter ⚠
- p.Asp42Gly Single submitter ⚠
- p.Asp568Val Single submitter ⚠
- p.Asp623Gly Single submitter ⚠
- p.Asp675Gly Single submitter ⚠
- p.Asp720Tyr Single submitter ⚠
- p.Asp79Glu Single submitter ⚠
- p.Asp79His Single submitter ⚠
- p.Asp79Tyr Single submitter ⚠
- p.Asp9Val Single submitter ⚠
- p.Cys327Arg Single submitter ⚠
- p.Cys456Ser Single submitter Fanconi anemia, complementation group W ⚠
- p.Cys545Tyr Single submitter ⚠
- p.Cys650Tyr Single submitter ⚠
- p.Cys682Phe Single submitter ⚠
- p.Cys684Ser Single submitter
- p.Gln101del Single submitter
- p.Gln104Arg Single submitter ⚠
- p.Gln11Glu Single submitter ⚠
- p.Gln11His Single submitter ⚠
- p.Gln167Lys Single submitter ⚠
- p.Gln167Ter Single submitter
- p.Gln183Glu Single submitter ⚠
- p.Gln188Glu Single submitter ⚠
- p.Gln188Leu Single submitter ⚠
- p.Gln20Arg Single submitter ⚠
- p.Gln20Ter Single submitter
- p.Gln242= Single submitter
- p.Gln264Arg Single submitter ⚠
- p.Gln264Glu Single submitter ⚠
- p.Gln268Arg Single submitter ⚠
- p.Gln293His Single submitter ⚠
- p.Gln30Arg Single submitter ⚠
- p.Gln366Ter Single submitter
- p.Gln371Glu Single submitter ⚠
- p.Gln37His Single submitter ⚠
- p.Gln37Ter Single submitter
- p.Gln384Arg Single submitter ⚠
- p.Gln394His Single submitter ⚠
- p.Gln398= Single submitter
- p.Gln407Arg Single submitter ⚠
- p.Gln409His Single submitter ⚠
- p.Gln412Glu Single submitter ⚠
- p.Gln412Lys Single submitter ⚠
- p.Gln439Arg Single submitter ⚠
- p.Gln47Glu Single submitter ⚠
- p.Gln582Glu Single submitter ⚠
- p.Gln582His Single submitter ⚠
- p.Gln620fs Single submitter
- p.Gln642Glu Single submitter ⚠
- p.Gln685His Single submitter ⚠
- p.Glu18Asp Single submitter ⚠
- p.Glu199Asp Single submitter ⚠
- p.Glu365Gly Single submitter ⚠
- p.Glu373Lys Single submitter ⚠
- p.Glu375Gln Single submitter ⚠
- p.Glu528Gln Single submitter ⚠
- p.Glu528Ter Single submitter
- p.Glu669Lys Single submitter ⚠
- p.Gly164Arg Single submitter ⚠
- p.Gly235Arg Single submitter ⚠
- p.Gly257Arg Single submitter ⚠
- p.Gly284Arg Single submitter ⚠
- p.Gly32Ala Single submitter ⚠
- p.Gly32Arg Single submitter ⚠
- p.Gly476Val Single submitter ⚠
- p.Gly48Ala Single submitter ⚠
- p.Gly48Arg Single submitter ⚠
- p.Gly511Ala Single submitter ⚠
- p.Gly511Ser Single submitter ⚠
- p.Gly539Val Single submitter ⚠
- p.Gly606Arg Single submitter ⚠
- p.Gly678Glu Single submitter ⚠
- p.His102Arg Single submitter ⚠
- p.His144Arg Single submitter ⚠
- p.His16Arg Single submitter ⚠
- p.His16Tyr Single submitter ⚠
- p.His309Arg Single submitter ⚠
- p.His432Gln Single submitter ⚠
- p.His432Tyr Single submitter ⚠
- p.His629Tyr Single submitter ⚠
- p.His660Gln Single submitter ⚠
- p.His688Arg Single submitter ⚠
- p.His688Leu Single submitter ⚠
- p.Ile112Phe Single submitter ⚠
- p.Ile255Phe Single submitter ⚠
- p.Ile316Leu Single submitter ⚠
- p.Ile316Val Single submitter ⚠
- p.Ile61Met Single submitter ⚠
- p.Ile663Val Single submitter ⚠
- p.Ile681Asn Single submitter ⚠
- p.Ile704Val Single submitter ⚠
- p.Ile714Val Single submitter ⚠
- p.Ile749Phe Single submitter ⚠
- p.Ile749Val Single submitter ⚠
- p.Ile770Val Single submitter ⚠
- p.Ile94Met Single submitter ⚠
- p.Leu174Phe Single submitter ⚠
- p.Leu208Phe Single submitter ⚠
- p.Leu243Val Single submitter ⚠
- p.Leu261Ile Single submitter
- p.Leu291Val Single submitter ⚠
- p.Leu320Arg Single submitter ⚠
- p.Leu347Val Single submitter ⚠
- p.Leu35Val Single submitter ⚠
- p.Leu363Val Single submitter ⚠
- p.Leu36del Single submitter
- p.Leu374Val Single submitter ⚠
- p.Leu403Ile Single submitter ⚠
- p.Leu459Arg Single submitter ⚠
- p.Leu524Val Single submitter ⚠
- p.Leu527Met Single submitter Fanconi anemia, complementation group W ⚠
- p.Leu588Met Single submitter ⚠
- p.Leu633Val Single submitter ⚠
- p.Leu667Met Single submitter ⚠
- p.Leu667Val Single submitter ⚠
- p.Leu69fs Single submitter Fanconi anemia, complementation group W
- p.Leu70Arg Single submitter ⚠
- p.Leu70Ile Single submitter ⚠
- p.Leu70Phe Single submitter ⚠
- p.Leu737His Single submitter ⚠
- p.Leu80Val Single submitter ⚠
- p.Leu86Phe Single submitter ⚠
- p.Lys269Asn Single submitter ⚠
- p.Lys321Ter Single submitter
- p.Lys332Arg Single submitter ⚠
- p.Lys389Glu Single submitter ⚠
- p.Lys389Thr Single submitter ⚠
- p.Lys402Asn Single submitter ⚠
- p.Lys433Glu Single submitter ⚠
- p.Lys435Thr Single submitter ⚠
- p.Lys440Asn Single submitter ⚠
- p.Lys440Glu Single submitter ⚠
- p.Lys498_Gln499delinsAsnLys Single submitter
- p.Lys766Arg Single submitter ⚠
- p.Met133Ile Single submitter ⚠
- p.Met133Val Single submitter ⚠
- p.Met149Ile Single submitter ⚠
- p.Met149Lys Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met358Val Single submitter ⚠
- p.Met367Ile Single submitter ⚠