RFX6 — 333 ClinVar variants
All ClinVar germline RFX6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
23 Pathogenic · 3 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 5 Conflicting · 42 Benign · 14 Benign/Likely benign · 100 Likely benign · 128 Uncertain significance
Full RFX6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RFX6 p.Ala90Thr
Conflicting
Single submitter
monogenic diabetes
-
RFX6 p.Ser854Leu
Conflicting
Single submitter
monogenic diabetes
-
RFX6 p.Thr680Lys
Conflicting
Single submitter
monogenic diabetes
Predictors lean, ClinVar uncertain 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RFX6 p.Arg377Gln
Uncertain significance
Multiple submitters
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
-
RFX6 p.Arg726Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Asn768His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Glu130Gly
Uncertain significance
Multiple submitters
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
-
RFX6 p.Gly848Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Ile685Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Pro670Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Thr428Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Thr480Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Val822Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RFX6 p.Ala247Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Ala393Ser Uncertain significance Single submitter
-
RFX6 p.Ala399Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Ala535Asp Uncertain significance Single submitter
- RFX6 p.Ala662Ser Uncertain significance Single submitter
-
RFX6 p.Ala729Val
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Ala745Val Uncertain significance Single submitter
- RFX6 p.Ala871Thr Uncertain significance Single submitter
-
RFX6 p.Ala924Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Arg142Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Arg171Cys Uncertain significance Single submitter
- RFX6 p.Arg185Thr Uncertain significance Single submitter
- RFX6 p.Arg486Lys Uncertain significance Single submitter
- RFX6 p.Arg664Ser Uncertain significance Single submitter
- RFX6 p.Arg752Gln Uncertain significance Single submitter
-
RFX6 p.Arg829Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Arg829Pro Uncertain significance Single submitter
-
RFX6 p.Arg866Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Asn768Ser Uncertain significance Single submitter
- RFX6 p.Asp313Ala Uncertain significance Single submitter
- RFX6 p.Asp412Val Uncertain significance Single submitter
-
RFX6 p.Asp444Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Asp91Asn Uncertain significance Single submitter
-
RFX6 p.Asp91Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Asp91Gly Uncertain significance Single submitter
- RFX6 p.Cys865Ser Uncertain significance Single submitter
-
RFX6 p.Gln355His
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Gln658His
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Gln851His Uncertain significance Single submitter
- RFX6 p.Glu908Asp Uncertain significance Single submitter
- RFX6 p.Gly431Ser Uncertain significance Single submitter
- RFX6 p.Gly746Arg Uncertain significance Single submitter
-
RFX6 p.His293Pro
Uncertain significance
Single submitter
monogenic diabetes
-
RFX6 p.His443Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.His812Pro Uncertain significance Single submitter
- RFX6 p.Ile314Leu Uncertain significance Single submitter
-
RFX6 p.Ile321Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ile375Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ile429Met
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Ile532Ser Uncertain significance Single submitter
-
RFX6 p.Ile532Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Leu104Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Leu140Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Leu761Met Uncertain significance Single submitter
-
RFX6 p.Lys222Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Lys372Asn Uncertain significance Single submitter
- RFX6 p.Met266Val Uncertain significance Single submitter
- RFX6 p.Met536Val Uncertain significance Single submitter
- RFX6 p.Met661Thr Uncertain significance Single submitter
- RFX6 p.Met769Ile Uncertain significance Single submitter
- RFX6 p.Phe521Cys Uncertain significance Single submitter
-
RFX6 p.Phe739Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Pro754Leu Uncertain significance Single submitter
-
RFX6 p.Pro759Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Pro833His
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Pro833Ser Uncertain significance Single submitter
-
RFX6 p.Pro877Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ser437Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ser743Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ser751Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Ser787Arg Uncertain significance Single submitter
-
RFX6 p.Ser804Arg
Uncertain significance
Single submitter
monogenic diabetes
-
RFX6 p.Ser827Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ser860Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ser906Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Thr433Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Thr433Ser Uncertain significance Single submitter
- RFX6 p.Thr435Ile Uncertain significance Single submitter
-
RFX6 p.Thr538Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Thr680Ala Uncertain significance Single submitter
-
RFX6 p.Thr705Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Tyr440Cys
Uncertain significance
Single submitter
monogenic diabetes
-
RFX6 p.Tyr681Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Tyr856His
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Val477Ile Uncertain significance Single submitter
- RFX6 p.Val706Ala Uncertain significance Single submitter
-
RFX6 p.Arg142Trp
Uncertain significance
No assertion criteria
RFX6-related disorder
- RFX6 p.Asn693Ser Uncertain significance No assertion criteria
-
RFX6 p.Ile837Ser
Uncertain significance
No assertion criteria
RFX6-related disorder
Predictors split 28
The independent predictors disagree with each other — read with care.
-
RFX6 p.Gln112Arg
Uncertain significance
Multiple submitters
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- RFX6 p.Pro643Ser Benign/Likely benign Multiple submitters
- RFX6 p.Ala393Val Uncertain significance Single submitter
- RFX6 p.Arg215Lys Uncertain significance Single submitter
- RFX6 p.Arg229His Uncertain significance Single submitter
-
RFX6 p.Asp328Val
Uncertain significance
Single submitter
Syndromic Monogenic Diabetes
-
RFX6 p.Asp494Gly
Likely pathogenic
Single submitter
RFX6-related disorder
- RFX6 p.Asp839Asn Uncertain significance Single submitter
- RFX6 p.Gln296Lys Uncertain significance Single submitter
-
RFX6 p.Gln820His
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.His187Arg Uncertain significance Single submitter
-
RFX6 p.His271Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
RFX6 p.Ile311Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Leu213Phe Uncertain significance Single submitter
-
RFX6 p.Leu250Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Leu303Phe Uncertain significance Single submitter
- RFX6 p.Leu512Phe Uncertain significance Single submitter
-
RFX6 p.Leu844Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Met556Thr Uncertain significance Single submitter
-
RFX6 p.Met921Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RFX6 p.Phe920Ile Uncertain significance Single submitter
-
RFX6 p.Pro644Ser
Likely benign
Single submitter
monogenic diabetes
-
RFX6 p.Ser217Pro
Likely pathogenic
Single submitter
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
-
RFX6 p.Ser381Pro
Uncertain significance
Single submitter
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- RFX6 p.Thr169Ile Uncertain significance Single submitter
- RFX6 p.Thr263Met Uncertain significance Single submitter
- RFX6 p.Thr270Ser Uncertain significance Single submitter
-
RFX6 p.Val406Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All RFX6 variants
Pathogenic 23
- c.1555+1G>A Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Arg505Ter Single submitter
- p.Arg525Ter Single submitter
- p.Arg652Ter Single submitter
- p.Arg726Ter Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Asn281fs Single submitter
- p.Asn82fs Single submitter
- p.Gln296Ter Single submitter
- p.Ile346fs Single submitter
- p.Ile439fs Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Ile878fs Single submitter maturity-onset diabetes of the young
- p.Leu291Ter Single submitter
- p.Leu551Ter Single submitter
- p.Lys489Ter Single submitter
- p.Met507fs Single submitter
- p.Pro719fs Single submitter
- p.Thr680fs Single submitter
- p.Tyr203Ter Single submitter
- p.Tyr834fs Single submitter
- c.224-12A>G No assertion criteria diabetes mellitus
- c.380+2T>C No assertion criteria hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- c.672+2T>G No assertion criteria hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- c.779_780+12del No assertion criteria hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Pathogenic/Likely pathogenic 3
- p.Arg181Gln Multiple submitters RFX6-related disorder
- p.Arg181Trp Multiple submitters RFX6-related disorder
- p.Arg385Ter Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Likely pathogenic 18
- c.1022+1G>C Single submitter RFX6-related disorder
- c.380+1G>A Single submitter Syndromic Monogenic Diabetes
- c.504+1G>A Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- c.781-1G>A Single submitter RFX6-related disorder
- p.Arg385Gln Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Asp494Gly Single submitter RFX6-related disorder ⚠
- p.Gln764fs Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Glu362Ter Single submitter RFX6-related disorder
- p.His293fs Single submitter RFX6-related disorder
- p.Leu291fs Single submitter
- p.Leu427fs Single submitter RFX6-related disorder
- p.Lys489fs Single submitter RFX6-related disorder
- p.Ser217Pro Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome ⚠
- p.Ser679fs Single submitter monogenic diabetes
- p.Ser715Ter Single submitter RFX6-related disorder
- p.Tyr192Ter Single submitter
- p.Val207fs Single submitter
- p.Leu523Ter No assertion criteria RFX6-related disorder
Conflicting classifications of pathogenicity 5
- p.Ala90Thr Single submitter monogenic diabetes ⚠
- p.Arg813Thr Single submitter
- p.Ser206= Single submitter
- p.Ser854Leu Single submitter monogenic diabetes ⚠
- p.Thr680Lys Single submitter monogenic diabetes ⚠
Benign 42
- c.1022+250T>C Single submitter
- c.1182+134G>A Single submitter
- c.1182+270_1182+272del Single submitter
- c.1183-269T>A Single submitter
- c.1327+133A>T Single submitter
- c.1555+289T>C Single submitter
- c.1678+8A>G Single submitter
- c.1886-283A>C Single submitter
- c.2398+220_2398+223dup Single submitter
- c.2398+223dup Single submitter
- c.2398+230A>G Single submitter
- c.2398+257G>C Single submitter
- c.2398+44A>G Single submitter
- c.2399-297T>C Single submitter
- c.2399-75A>G Single submitter
- c.2611+168G>A Single submitter
- c.2611+252G>A Single submitter
- c.2611+253G>A Single submitter
- c.2611+48C>T Single submitter
- c.2612-153A>G Single submitter
- c.2612-247C>T Single submitter
- c.2612-297C>T Single submitter
- c.380+276C>T Single submitter
- c.504+155A>C Single submitter
- c.505-9T>C Single submitter
- c.566+154del Single submitter
- c.566+154dup Single submitter
- c.566+220C>A Single submitter
- c.567-284A>C Single submitter
- c.567-36T>C Single submitter
- c.644+153T>C Single submitter
- c.644+73G>A Single submitter
- c.645-218G>A Single submitter
- c.672+296C>T Single submitter
- c.673-3T>C Single submitter
- c.972+107T>G Single submitter
- c.972+47G>A Single submitter
- c.973-114A>C Single submitter
- c.973-172_973-169del Single submitter
- c.973-59T>C Single submitter
- c.*90T>G Single submitter
- p.Thr699= Single submitter
Benign/Likely benign 14
- c.1328-10T>C Multiple submitters
- c.1556-9A>T Multiple submitters
- c.2398+17G>T Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- c.2398+8T>C Multiple submitters
- c.*3C>A Multiple submitters
- p.Arg726Gly Multiple submitters monogenic diabetes
- p.Asn514= Multiple submitters
- p.Gly638= Multiple submitters
- p.Gly800Ala Multiple submitters monogenic diabetes
- p.His443Tyr Multiple submitters monogenic diabetes
- p.Pro643Ser Multiple submitters ⚠
- p.Thr461= Multiple submitters
- p.Thr722= Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Val329Ile Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
Likely benign 100
- c.1023-34C>T Multiple submitters
- c.1437+13G>A Multiple submitters
- c.1678+10_1678+14del Multiple submitters
- c.1678+59A>G Multiple submitters
- c.2611+60A>T Multiple submitters
- c.672+31C>T Multiple submitters
- p.Asn750= Multiple submitters
- p.Gly790Glu Multiple submitters monogenic diabetes
- p.Thr169= Multiple submitters Inborn genetic diseases
- p.Thr263= Multiple submitters
- c.1023-11C>T Single submitter
- c.1182+19C>T Single submitter
- c.1182+26A>T Single submitter
- c.1182+9G>C Single submitter
- c.1183-13T>C Single submitter
- c.1183-14C>T Single submitter
- c.1183-15A>C Single submitter
- c.1183-5T>C Single submitter
- c.1183-6A>C Single submitter
- c.1327+12C>T Single submitter
- c.1328-131A>T Single submitter
- c.1328-20T>C Single submitter
- c.1328-8dup Single submitter
- c.1437+137G>A Single submitter
- c.1437+8T>A Single submitter
- c.1555+9C>T Single submitter
- c.1556-14C>T Single submitter
- c.1678+14del Single submitter
- c.1886-20G>A Single submitter
- c.223+18T>G Single submitter
- c.2398+223del Single submitter
- c.380+10G>T Single submitter
- c.380+11C>T Single submitter
- c.380+13C>T Single submitter
- c.381-129C>T Single submitter
- c.504+11C>T Single submitter
- c.504+19C>T Single submitter
- c.504+8A>G Single submitter
- c.505-13T>C Single submitter
- c.566+9C>A Single submitter
- c.567-13G>A Single submitter
- c.567-15C>G Single submitter
- c.644+15T>C Single submitter
- c.644+56T>C Single submitter
- c.645-17T>C Single submitter
- c.673-16T>C Single submitter
- c.673-8A>C Single submitter
- c.781-10C>T Single submitter
- c.781-6A>T Single submitter
- c.859-12C>A Single submitter
- c.859-4C>T Single submitter
- c.972+13G>T Single submitter
- p.Ala350= Single submitter
- p.Ala425= Single submitter
- p.Ala535= Single submitter
- p.Ala637Ser Single submitter Inborn genetic diseases
- p.Ala637Thr Single submitter Inborn genetic diseases
- p.Ala745= Single submitter
- p.Ala786= Single submitter
- p.Ala90= Single submitter
- p.Arg652Gln Single submitter monogenic diabetes
- p.Asn768Asp Single submitter
- p.Gln884= Single submitter
- p.Glu545= Single submitter
- p.Glu732= Single submitter
- p.Gly254= Single submitter
- p.Gly503= Single submitter
- p.His148= Single submitter
- p.His187= Single submitter
- p.His191= Single submitter
- p.His271= Single submitter
- p.His838= Single submitter
- p.His902= Single submitter
- p.His93Gln Single submitter Inborn genetic diseases
- p.Leu250= Single submitter
- p.Leu264= Single submitter
- p.Leu306= Single submitter
- p.Leu383= Single submitter
- p.Leu528= Single submitter
- p.Leu533= Single submitter
- p.Pro304= Single submitter
- p.Pro644Ser Single submitter monogenic diabetes ⚠
- p.Pro670= Single submitter
- p.Pro879= Single submitter
- p.Ser105Ala Single submitter
- p.Ser232= Single submitter
- p.Ser246= Single submitter
- p.Ser388= Single submitter
- p.Ser776= Single submitter
- p.Ser905= Single submitter
- p.Thr511= Single submitter
- p.Thr731= Single submitter
- p.Tyr103His Single submitter Inborn genetic diseases
- p.Tyr146= Single submitter
- p.Tyr252= Single submitter
- p.Val134= Single submitter
- c.1328-12_1328-10del No assertion criteria RFX6-related disorder
- p.Pro754= No assertion criteria RFX6-related disorder
- p.Ser209= No assertion criteria RFX6-related disorder
- p.Tyr749= No assertion criteria
Uncertain significance 128
- p.Arg377Gln Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome ⚠
- p.Arg726Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn768His Multiple submitters Inborn genetic diseases ⚠
- p.Gln112Arg Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome ⚠
- p.Glu130Gly Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome ⚠
- p.Gly848Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile685Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro660Arg Multiple submitters
- p.Pro670Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser232Leu Multiple submitters hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Thr428Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr480Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val822Ile Multiple submitters Inborn genetic diseases ⚠
- c.1438-3T>C Single submitter
- c.224-5A>G Single submitter
- c.566+3A>C Single submitter
- c.566+5G>C Single submitter
- p.Ala247Thr Single submitter Inborn genetic diseases ⚠
- p.Ala393Ser Single submitter ⚠
- p.Ala393Val Single submitter ⚠
- p.Ala399Val Single submitter Inborn genetic diseases ⚠
- p.Ala535Asp Single submitter ⚠
- p.Ala662Ser Single submitter ⚠
- p.Ala729Val Single submitter Inborn genetic diseases ⚠
- p.Ala745Val Single submitter ⚠
- p.Ala871Thr Single submitter ⚠
- p.Ala924Val Single submitter Inborn genetic diseases ⚠
- p.Arg142Gln Single submitter Inborn genetic diseases ⚠
- p.Arg171Cys Single submitter ⚠
- p.Arg185Thr Single submitter ⚠
- p.Arg215Lys Single submitter ⚠
- p.Arg229His Single submitter ⚠
- p.Arg486Lys Single submitter ⚠
- p.Arg664Ser Single submitter ⚠
- p.Arg752Gln Single submitter ⚠
- p.Arg829Cys Single submitter Inborn genetic diseases ⚠
- p.Arg829Pro Single submitter ⚠
- p.Arg866Gln Single submitter Inborn genetic diseases ⚠
- p.Arg866Ter Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
- p.Asn768Ser Single submitter ⚠
- p.Asp313Ala Single submitter ⚠
- p.Asp328Val Single submitter Syndromic Monogenic Diabetes ⚠
- p.Asp412Val Single submitter ⚠
- p.Asp444Asn Single submitter Inborn genetic diseases ⚠
- p.Asp839Asn Single submitter ⚠
- p.Asp91Asn Single submitter ⚠
- p.Asp91Glu Single submitter Inborn genetic diseases ⚠
- p.Asp91Gly Single submitter ⚠
- p.Cys865Ser Single submitter ⚠
- p.Gln296Lys Single submitter ⚠
- p.Gln355His Single submitter Inborn genetic diseases ⚠
- p.Gln658His Single submitter Inborn genetic diseases ⚠
- p.Gln820His Single submitter Inborn genetic diseases ⚠
- p.Gln851His Single submitter ⚠
- p.Gln875Ter Single submitter
- p.Gln884fs Single submitter
- p.Gln896Ter Single submitter
- p.Glu908Asp Single submitter ⚠
- p.Gly431Ser Single submitter ⚠
- p.Gly746Arg Single submitter ⚠
- p.His187Arg Single submitter ⚠
- p.His271Tyr Single submitter Inborn genetic diseases ⚠
- p.His293Pro Single submitter monogenic diabetes ⚠
- p.His443Arg Single submitter Inborn genetic diseases ⚠
- p.His812Pro Single submitter ⚠
- p.Ile265del Single submitter
- p.Ile311Thr Single submitter Inborn genetic diseases ⚠
- p.Ile312del Single submitter
- p.Ile314Leu Single submitter ⚠
- p.Ile321Val Single submitter Inborn genetic diseases ⚠
- p.Ile375Val Single submitter Inborn genetic diseases ⚠
- p.Ile429Met Single submitter Inborn genetic diseases ⚠
- p.Ile532Ser Single submitter ⚠
- p.Ile532Val Single submitter Inborn genetic diseases ⚠
- p.Leu104Met Single submitter Inborn genetic diseases ⚠
- p.Leu140Ser Single submitter Inborn genetic diseases ⚠
- p.Leu213Phe Single submitter ⚠
- p.Leu250Phe Single submitter Inborn genetic diseases ⚠
- p.Leu303Phe Single submitter ⚠
- p.Leu512Phe Single submitter ⚠
- p.Leu761Met Single submitter ⚠
- p.Leu844Phe Single submitter Inborn genetic diseases ⚠
- p.Lys222Arg Single submitter Inborn genetic diseases ⚠
- p.Lys372Asn Single submitter ⚠
- p.Met266Val Single submitter ⚠
- p.Met536_Thr538del Single submitter
- p.Met536Val Single submitter ⚠
- p.Met556Thr Single submitter ⚠
- p.Met661Thr Single submitter ⚠
- p.Met769Ile Single submitter ⚠
- p.Met921Ile Single submitter Inborn genetic diseases ⚠
- p.Phe521Cys Single submitter ⚠
- p.Phe739Cys Single submitter Inborn genetic diseases ⚠
- p.Phe920Ile Single submitter ⚠
- p.Pro754Leu Single submitter ⚠
- p.Pro759Ser Single submitter Inborn genetic diseases ⚠
- p.Pro833His Single submitter Inborn genetic diseases ⚠
- p.Pro833Ser Single submitter ⚠
- p.Pro877Ser Single submitter Inborn genetic diseases ⚠
- p.Ser381Pro Single submitter hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome ⚠
- p.Ser437Cys Single submitter Inborn genetic diseases ⚠
- p.Ser743Asn Single submitter Inborn genetic diseases ⚠
- p.Ser751Phe Single submitter Inborn genetic diseases ⚠
- p.Ser787Arg Single submitter ⚠
- p.Ser804Arg Single submitter monogenic diabetes ⚠
- p.Ser827Gly Single submitter Inborn genetic diseases ⚠
- p.Ser860Pro Single submitter Inborn genetic diseases ⚠
- p.Ser906Arg Single submitter Inborn genetic diseases ⚠
- p.Thr169Ile Single submitter ⚠
- p.Thr179del Single submitter
- p.Thr263Met Single submitter ⚠
- p.Thr270Ser Single submitter ⚠
- p.Thr433Ile Single submitter Inborn genetic diseases ⚠
- p.Thr433Ser Single submitter ⚠
- p.Thr435Ile Single submitter ⚠
- p.Thr538Ser Single submitter Inborn genetic diseases ⚠
- p.Thr680Ala Single submitter ⚠
- p.Thr705Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr440Cys Single submitter monogenic diabetes ⚠
- p.Tyr681Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr856His Single submitter Inborn genetic diseases ⚠
- p.Val261Ala Single submitter Inborn genetic diseases
- p.Val406Leu Single submitter Inborn genetic diseases ⚠
- p.Val477Ile Single submitter ⚠
- p.Val706Ala Single submitter ⚠
- p.Arg142Trp No assertion criteria RFX6-related disorder ⚠
- p.Asn693Ser No assertion criteria ⚠
- p.Ile837Ser No assertion criteria RFX6-related disorder ⚠