REL — 259 ClinVar variants
All ClinVar germline REL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
6 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 6 Benign · 10 Benign/Likely benign · 145 Likely benign · 86 Uncertain significance
Full REL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 74
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- REL p.Asp224Asn Uncertain significance Multiple submitters
-
REL p.Gln503His
Uncertain significance
Multiple submitters
immunodeficiency 92
- REL p.Leu298Val Uncertain significance Multiple submitters
- REL p.Met372Lys Uncertain significance Multiple submitters
-
REL p.Met372Val
Uncertain significance
Multiple submitters
immunodeficiency 92
- REL p.Ser556Gly Uncertain significance Multiple submitters
- REL p.Ser563Asn Uncertain significance Multiple submitters
- REL p.Tyr356Cys Uncertain significance Multiple submitters
- REL p.Tyr451Cys Uncertain significance Multiple submitters
- REL p.Val340Ile Uncertain significance Multiple submitters
- REL c.923-143C>T Uncertain significance Single submitter
- REL c.923-144A>G Uncertain significance Single submitter
- REL c.923-176G>A Uncertain significance Single submitter
- REL p.Ala180Val Uncertain significance Single submitter
- REL p.Ala252Thr Uncertain significance Single submitter
- REL p.Ala516Thr Uncertain significance Single submitter
- REL p.Ala529Val Uncertain significance Single submitter
- REL p.Arg108Gln Uncertain significance Single submitter
- REL p.Arg238His Uncertain significance Single submitter
- REL p.Asn131Ser Uncertain significance Single submitter
- REL p.Asn407Asp Uncertain significance Single submitter
- REL p.Asn432Thr Uncertain significance Single submitter
- REL p.Asn433Ser Uncertain significance Single submitter
- REL p.Asn43Ser Uncertain significance Single submitter
- REL p.Asn44Ser Uncertain significance Single submitter
- REL p.Asp202Asn Uncertain significance Single submitter
- REL p.Asp338His Uncertain significance Single submitter
- REL p.Asp436Asn Uncertain significance Single submitter
- REL p.Asp455His Uncertain significance Single submitter
- REL p.Asp534Gly Uncertain significance Single submitter
- REL p.Cys492Gly Uncertain significance Single submitter
- REL p.Gln526Leu Uncertain significance Single submitter
- REL p.Glu159Lys Uncertain significance Single submitter
- REL p.Glu38Lys Uncertain significance Single submitter
- REL p.Glu583Asp Uncertain significance Single submitter
- REL p.Gly325Glu Uncertain significance Single submitter
- REL p.Gly4Asp Uncertain significance Single submitter
- REL p.Gly59Ala Uncertain significance Single submitter
- REL p.His160Arg Uncertain significance Single submitter
- REL p.His307Arg Uncertain significance Single submitter
- REL p.His39Tyr Uncertain significance Single submitter
- REL p.Ile10Val Uncertain significance Single submitter
- REL p.Ile12Leu Uncertain significance Single submitter
- REL p.Ile253Val Uncertain significance Single submitter
- REL p.Ile411Val Uncertain significance Single submitter
- REL p.Ile437Thr Uncertain significance Single submitter
- REL p.Leu222Trp Uncertain significance Single submitter
- REL p.Leu375Pro Uncertain significance Single submitter
- REL p.Leu482Pro Uncertain significance Single submitter
- REL p.Met467Thr Uncertain significance Single submitter
- REL p.Met53Ile Uncertain significance Single submitter
- REL p.Met53Val Uncertain significance Single submitter
-
REL p.Phe220Ser
Uncertain significance
Single submitter
immunodeficiency 92
- REL p.Phe523Val Uncertain significance Single submitter
- REL p.Phe535Ser Uncertain significance Single submitter
- REL p.Pro256His Uncertain significance Single submitter
- REL p.Pro256Ser Uncertain significance Single submitter
- REL p.Pro332Leu Uncertain significance Single submitter
- REL p.Pro345Arg Uncertain significance Single submitter
- REL p.Pro361Thr Uncertain significance Single submitter
- REL p.Pro456Ala Uncertain significance Single submitter
- REL p.Ser511Asn Uncertain significance Single submitter
- REL p.Ser546Leu Uncertain significance Single submitter
- REL p.Ser546Pro Uncertain significance Single submitter
- REL p.Ser570Asn Uncertain significance Single submitter
- REL p.Ser570Ile Uncertain significance Single submitter
- REL p.Thr297Ser Uncertain significance Single submitter
- REL p.Thr346Ala Uncertain significance Single submitter
- REL p.Thr393Ala Uncertain significance Single submitter
- REL p.Tyr355Ser Uncertain significance Single submitter
- REL p.Tyr356Phe Uncertain significance Single submitter
- REL p.Val348Phe Uncertain significance Single submitter
- REL p.Val383Ala Uncertain significance Single submitter
- REL p.Val587Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- REL p.Phe559Leu Uncertain significance Multiple submitters
- REL p.Arg97Cys Uncertain significance Single submitter
- REL p.Asp224His Uncertain significance Single submitter
- REL p.Gly94Glu Uncertain significance Single submitter
- REL p.Pro266Leu Uncertain significance Single submitter
- REL p.Thr164Met Uncertain significance Single submitter
All REL variants
Pathogenic 6
- c.923-140C>G Single submitter
- c.923-184_923-183del Single submitter
- p.Arg30Ter Single submitter
- p.Cys304fs Single submitter
- c.395-1G>A No assertion criteria immunodeficiency 92
- c.535+1G>A No assertion criteria immunodeficiency 92
Likely pathogenic 1
- c.922+1G>A Single submitter
Conflicting classifications of pathogenicity 5
- c.992-7C>A Single submitter immunodeficiency 92
- p.Arg389Cys Single submitter ⚠
- p.Asn392Ser Single submitter ⚠
- p.Asp435Asn Single submitter ⚠
- p.Ser525Pro Single submitter ⚠
Benign 6
- c.10+11A>T Multiple submitters
- c.11-79A>G Single submitter
- c.154-40G>A Single submitter
- c.303-9dup Single submitter
- c.395-9del Single submitter
- c.923-15del Single submitter
Benign/Likely benign 10
- c.395-18T>A Multiple submitters
- c.395-9dup Multiple submitters
- c.923-142A>G Multiple submitters
- c.923-78C>T Multiple submitters
- p.Arg278= Multiple submitters
- p.Asn544= Multiple submitters
- p.Asp435= Multiple submitters
- p.Gly57= Multiple submitters
- p.Pro361Arg Multiple submitters
- p.Thr401Ala Multiple submitters
Likely benign 145
- c.10+10C>T Multiple submitters
- c.10+12T>C Multiple submitters
- c.395-19A>T Multiple submitters
- p.Ala434= Multiple submitters
- p.Arg264= Multiple submitters
- p.Gln526= Multiple submitters
- p.Ser408= Multiple submitters
- p.Tyr176= Multiple submitters
- p.Val438= Multiple submitters
- p.Val61= Multiple submitters
- c.10+8T>C Single submitter
- c.11-14T>A Single submitter
- c.11-5T>C Single submitter
- c.153+17C>T Single submitter
- c.153+20T>A Single submitter
- c.154-10C>G Single submitter
- c.154-12C>T Single submitter
- c.154-14C>T Single submitter
- c.302+11A>G Single submitter
- c.302+19A>G Single submitter
- c.302+8C>A Single submitter
- c.303-13T>C Single submitter
- c.303-19A>T Single submitter
- c.303-4C>T Single submitter
- c.303-6T>C Single submitter
- c.394+20T>G Single submitter
- c.394+8T>C Single submitter
- c.395-12_395-9dup Single submitter
- c.395-13T>A Single submitter
- c.395-14T>C Single submitter
- c.395-15T>C Single submitter
- c.395-6A>C Single submitter
- c.535+20A>G Single submitter
- c.535+8C>T Single submitter
- c.536-13C>T Single submitter
- c.536-18A>G Single submitter
- c.640+13T>G Single submitter
- c.640+2TATT[2] Single submitter
- c.641-17G>T Single submitter
- c.853+8A>G Single submitter
- c.853+9T>C Single submitter
- c.854-12C>T Single submitter
- c.854-3C>T Single submitter
- c.854-6A>C Single submitter
- c.854-6A>G Single submitter
- c.854-6A>T Single submitter
- c.854-8del Single submitter
- c.922+12T>C Single submitter
- c.922+13T>G Single submitter
- c.922+18C>T Single submitter
- c.922+19G>A Single submitter
- c.922+19G>T Single submitter
- c.923-112A>G Single submitter
- c.923-142A>C Single submitter
- c.923-151A>G Single submitter
- c.923-17A>C Single submitter
- c.923-17A>G Single submitter
- c.923-196T>C Single submitter
- c.923-19A>G Single submitter
- c.923-201G>C Single submitter
- c.923-201G>T Single submitter
- c.923-77G>A Single submitter
- c.923-79C>A Single submitter
- c.923-81G>A Single submitter
- c.923-81G>T Single submitter
- c.923-82C>T Single submitter
- c.923-84C>A Single submitter
- c.991+13C>T Single submitter
- c.992-20A>T Single submitter
- c.992-9C>T Single submitter
- p.Ala166= Single submitter
- p.Ala184= Single submitter
- p.Ala2= Single submitter
- p.Ala252= Single submitter
- p.Ala442= Single submitter
- p.Ala5= Single submitter
- p.Arg122= Single submitter
- p.Arg19= Single submitter
- p.Arg389= Single submitter
- p.Arg402Gly Single submitter
- p.Arg45= Single submitter
- p.Arg481= Single submitter
- p.Asn44= Single submitter
- p.Asn489= Single submitter
- p.Asn493= Single submitter
- p.Asn519Ser Single submitter
- p.Asn540= Single submitter
- p.Asn553= Single submitter
- p.Asp268= Single submitter
- p.Asp539= Single submitter
- p.Asp86= Single submitter
- p.Cys250= Single submitter
- p.Cys304= Single submitter
- p.Gln269= Single submitter
- p.Gln564= Single submitter
- p.Glu185= Single submitter
- p.Glu476= Single submitter
- p.Gly515= Single submitter
- p.His237= Single submitter
- p.His307= Single submitter
- p.Ile188= Single submitter
- p.Ile322Thr Single submitter
- p.Leu105= Single submitter
- p.Leu145= Single submitter
- p.Leu206= Single submitter
- p.Leu263= Single submitter
- p.Leu319= Single submitter
- p.Leu375= Single submitter
- p.Lys124= Single submitter
- p.Lys228= Single submitter
- p.Lys293= Single submitter
- p.Lys302= Single submitter
- p.Pro247= Single submitter
- p.Pro248= Single submitter
- p.Pro256= Single submitter
- p.Pro345= Single submitter
- p.Pro361= Single submitter
- p.Pro386= Single submitter
- p.Pro405= Single submitter
- p.Pro480= Single submitter
- p.Pro8= Single submitter
- p.Pro99= Single submitter
- p.Ser172= Single submitter
- p.Ser349= Single submitter
- p.Ser354= Single submitter
- p.Ser381= Single submitter
- p.Ser454= Single submitter
- p.Ser491= Single submitter
- p.Ser536= Single submitter
- p.Ser546= Single submitter
- p.Ser579= Single submitter
- p.Thr164= Single submitter
- p.Thr401Ile Single submitter
- p.Thr46= Single submitter
- p.Thr552= Single submitter
- p.Thr64= Single submitter
- p.Tyr287= Single submitter
- p.Tyr355= Single submitter
- p.Tyr55= Single submitter
- p.Tyr56= Single submitter
- p.Val110= Single submitter
- p.Val115= Single submitter
- p.Val171= Single submitter
- p.Val383= Single submitter
- p.Val587= Single submitter
Uncertain significance 86
- p.Asp224Asn Multiple submitters ⚠
- p.Gln503His Multiple submitters immunodeficiency 92 ⚠
- p.Leu298Val Multiple submitters ⚠
- p.Met372Lys Multiple submitters ⚠
- p.Met372Val Multiple submitters immunodeficiency 92 ⚠
- p.Phe559Leu Multiple submitters ⚠
- p.Ser556Gly Multiple submitters ⚠
- p.Ser563Asn Multiple submitters ⚠
- p.Tyr356Cys Multiple submitters ⚠
- p.Tyr451Cys Multiple submitters ⚠
- p.Val340Ile Multiple submitters ⚠
- c.303-3T>C Single submitter
- c.394+3A>G Single submitter
- c.853+19_853+20delinsGG Single submitter
- c.923-143C>T Single submitter ⚠
- c.923-144A>G Single submitter ⚠
- c.923-171_923-170del Single submitter immunodeficiency 92
- c.923-176G>A Single submitter ⚠
- p.Ala180Val Single submitter ⚠
- p.Ala252Thr Single submitter ⚠
- p.Ala516Thr Single submitter ⚠
- p.Ala529Val Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg238His Single submitter ⚠
- p.Arg97Cys Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn407Asp Single submitter ⚠
- p.Asn432Thr Single submitter ⚠
- p.Asn433Ser Single submitter ⚠
- p.Asn43Ser Single submitter ⚠
- p.Asn44Ser Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp224His Single submitter ⚠
- p.Asp338His Single submitter ⚠
- p.Asp436Asn Single submitter ⚠
- p.Asp455His Single submitter ⚠
- p.Asp534Gly Single submitter ⚠
- p.Cys492Gly Single submitter ⚠
- p.Gln526Leu Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu38Lys Single submitter ⚠
- p.Glu583Asp Single submitter ⚠
- p.Gly325Glu Single submitter ⚠
- p.Gly4Asp Single submitter ⚠
- p.Gly59Ala Single submitter ⚠
- p.Gly94Glu Single submitter ⚠
- p.His160Arg Single submitter ⚠
- p.His307Arg Single submitter ⚠
- p.His39Tyr Single submitter ⚠
- p.Ile10Val Single submitter ⚠
- p.Ile12Leu Single submitter ⚠
- p.Ile253Val Single submitter ⚠
- p.Ile411Val Single submitter ⚠
- p.Ile437Thr Single submitter ⚠
- p.Leu222Trp Single submitter ⚠
- p.Leu375Pro Single submitter ⚠
- p.Leu482Pro Single submitter ⚠
- p.Met467Thr Single submitter ⚠
- p.Met53Ile Single submitter ⚠
- p.Met53Val Single submitter ⚠
- p.Met571fs Single submitter immunodeficiency 92
- p.Phe220Ser Single submitter immunodeficiency 92 ⚠
- p.Phe523Val Single submitter ⚠
- p.Phe535Ser Single submitter ⚠
- p.Pro256His Single submitter ⚠
- p.Pro256Ser Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro332Leu Single submitter ⚠
- p.Pro345Arg Single submitter ⚠
- p.Pro361Thr Single submitter ⚠
- p.Pro456Ala Single submitter ⚠
- p.Ser197Gly Single submitter REL-related disorder
- p.Ser511Asn Single submitter ⚠
- p.Ser546Leu Single submitter ⚠
- p.Ser546Pro Single submitter ⚠
- p.Ser570Asn Single submitter ⚠
- p.Ser570Ile Single submitter ⚠
- p.Thr164Met Single submitter ⚠
- p.Thr297Ser Single submitter ⚠
- p.Thr346Ala Single submitter ⚠
- p.Thr393Ala Single submitter ⚠
- p.Tyr355Ser Single submitter ⚠
- p.Tyr356Phe Single submitter ⚠
- p.Val348Phe Single submitter ⚠
- p.Val383Ala Single submitter ⚠
- p.Val587Ile Single submitter ⚠