SIX5 — 486 ClinVar variants
All ClinVar germline SIX5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 264 flagged for review →
1 Likely pathogenic · 40 Conflicting · 16 Benign · 14 Benign/Likely benign · 138 Likely benign · 277 Uncertain significance
Full SIX5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 264
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 34
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SIX5 p.Ala158Thr
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Ala18Glu
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Ala408Asp
Conflicting
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Ala527Thr Conflicting Single submitter
- SIX5 p.Ala54Val Conflicting Single submitter
-
SIX5 p.Ala580Val
Conflicting
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Ala613Gly Conflicting Single submitter
- SIX5 p.Ala660Val Conflicting Single submitter
- SIX5 p.Ala681Val Conflicting Single submitter
-
SIX5 p.Glu210Lys
Conflicting
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Glu396Lys Conflicting Single submitter
- SIX5 p.Glu682Gly Conflicting Single submitter
- SIX5 p.Glu721Lys Conflicting Single submitter
- SIX5 p.Leu456Phe Conflicting Single submitter
- SIX5 p.Leu528Val Conflicting Single submitter
- SIX5 p.Leu556Met Conflicting Single submitter
-
SIX5 p.Leu563Phe
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Pro441Ser
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Pro460Leu
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Pro488Ser
Conflicting
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro513Leu Conflicting Single submitter
-
SIX5 p.Pro601Leu
Conflicting
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro645Ser Conflicting Single submitter
- SIX5 p.Pro648Arg Conflicting Single submitter
- SIX5 p.Pro648Leu Conflicting Single submitter
-
SIX5 p.Pro64Leu
Conflicting
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro80Ser Conflicting Single submitter
-
SIX5 p.Ser467Asn
Conflicting
Single submitter
SIX5-related disorder
- SIX5 p.Thr434Met Conflicting Single submitter
- SIX5 p.Thr464Arg Conflicting Single submitter
-
SIX5 p.Thr464Ser
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Thr552Met
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Val448Leu
Conflicting
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Val551Met
Conflicting
Single submitter
branchiootorenal syndrome 2
Predictors lean, ClinVar uncertain 207
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 207
-
SIX5 p.Ala13Val
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Ala155Thr
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Ala235Val Uncertain significance Multiple submitters
- SIX5 p.Ala408Thr Uncertain significance Multiple submitters
-
SIX5 p.Ala411Val
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Ala584Val
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Ala626Thr
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Ala649Ser
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Ala673Thr Uncertain significance Multiple submitters
- SIX5 p.Ala722Gly Uncertain significance Multiple submitters
- SIX5 p.Ala77Val Uncertain significance Multiple submitters
- SIX5 p.Asp698Glu Uncertain significance Multiple submitters
- SIX5 p.Asp700Asn Uncertain significance Multiple submitters
-
SIX5 p.Gln477His
Uncertain significance
Multiple submitters
SIX5-related disorder
-
SIX5 p.Gln483Pro
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Glu396Ala Uncertain significance Multiple submitters
- SIX5 p.Glu597Val Uncertain significance Multiple submitters
-
SIX5 p.Glu75Val
Uncertain significance
Multiple submitters
SIX5-related disorder
-
SIX5 p.Glu79Asp
Uncertain significance
Multiple submitters
SIX5-related disorder
-
SIX5 p.Gly259Val
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Gly423Arg
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Gly717Glu Uncertain significance Multiple submitters
-
SIX5 p.Ile561Val
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Leu165Val
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Leu541Met
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Leu657Met Uncertain significance Multiple submitters
-
SIX5 p.Phe647Cys
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Pro116Arg
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Pro153Ser Uncertain significance Multiple submitters
- SIX5 p.Pro265Leu Uncertain significance Multiple submitters
-
SIX5 p.Pro493Leu
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Pro645Arg Uncertain significance Multiple submitters
- SIX5 p.Pro70Leu Uncertain significance Multiple submitters
-
SIX5 p.Ser618Pro
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Ser66Phe
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Thr25Asn Uncertain significance Multiple submitters
- SIX5 p.Thr382Ile Uncertain significance Multiple submitters
-
SIX5 p.Val479Leu
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
- SIX5 p.Val573Ile Uncertain significance Multiple submitters
- SIX5 p.Ala10Val Uncertain significance Single submitter
- SIX5 p.Ala13Pro Uncertain significance Single submitter
- SIX5 p.Ala155Val Uncertain significance Single submitter
-
SIX5 p.Ala175Thr
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Ala18Ser Uncertain significance Single submitter
- SIX5 p.Ala218Gly Uncertain significance Single submitter
- SIX5 p.Ala317Pro Uncertain significance Single submitter
-
SIX5 p.Ala330Val
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Ala402Val Uncertain significance Single submitter
- SIX5 p.Ala426Gly Uncertain significance Single submitter
- SIX5 p.Ala42Ser Uncertain significance Single submitter
- SIX5 p.Ala435Val Uncertain significance Single submitter
- SIX5 p.Ala450Val Uncertain significance Single submitter
- SIX5 p.Ala533Thr Uncertain significance Single submitter
- SIX5 p.Ala535Val Uncertain significance Single submitter
- SIX5 p.Ala57Glu Uncertain significance Single submitter
- SIX5 p.Ala592Thr Uncertain significance Single submitter
- SIX5 p.Ala607Asp Uncertain significance Single submitter
-
SIX5 p.Ala611Val
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Ala61Val Uncertain significance Single submitter
- SIX5 p.Ala689Asp Uncertain significance Single submitter
-
SIX5 p.Ala689Val
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Ala6Ser Uncertain significance Single submitter
- SIX5 p.Arg137Trp Uncertain significance Single submitter
-
SIX5 p.Arg145Gln
Uncertain significance
Single submitter
SIX5-related disorder
- SIX5 p.Arg174Trp Uncertain significance Single submitter
-
SIX5 p.Arg213Gly
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Arg233His Uncertain significance Single submitter
- SIX5 p.Asn247His Uncertain significance Single submitter
- SIX5 p.Asn474Lys Uncertain significance Single submitter
-
SIX5 p.Asn515Ser
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Asp229Glu Uncertain significance Single submitter
- SIX5 p.Asp639Gly Uncertain significance Single submitter
- SIX5 p.Cys219Tyr Uncertain significance Single submitter
- SIX5 p.Cys266Tyr Uncertain significance Single submitter
- SIX5 p.Gln452Glu Uncertain significance Single submitter
- SIX5 p.Glu148Lys Uncertain significance Single submitter
- SIX5 p.Glu203Lys Uncertain significance Single submitter
- SIX5 p.Glu26Gln Uncertain significance Single submitter
- SIX5 p.Glu392Val Uncertain significance Single submitter
- SIX5 p.Glu396Asp Uncertain significance Single submitter
- SIX5 p.Glu397Gly Uncertain significance Single submitter
- SIX5 p.Glu420Asp Uncertain significance Single submitter
-
SIX5 p.Glu676Lys
Uncertain significance
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Glu680Lys
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Glu735Asp Uncertain significance Single submitter
- SIX5 p.Glu735Gln Uncertain significance Single submitter
- SIX5 p.Glu75Ala Uncertain significance Single submitter
- SIX5 p.Gly11Ala Uncertain significance Single submitter
-
SIX5 p.Gly15Arg
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Gly15Val Uncertain significance Single submitter
- SIX5 p.Gly16Arg Uncertain significance Single submitter
- SIX5 p.Gly201Val Uncertain significance Single submitter
-
SIX5 p.Gly222Ala
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Gly222Asp Uncertain significance Single submitter
- SIX5 p.Gly261Arg Uncertain significance Single submitter
- SIX5 p.Gly391Arg Uncertain significance Single submitter
- SIX5 p.Gly391Glu Uncertain significance Single submitter
-
SIX5 p.Gly407Trp
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Gly423Glu Uncertain significance Single submitter
- SIX5 p.Gly44Asp Uncertain significance Single submitter
- SIX5 p.Gly51Arg Uncertain significance Single submitter
-
SIX5 p.Gly522Trp
Uncertain significance
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Gly53Arg
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Gly553Ser Uncertain significance Single submitter
- SIX5 p.Gly60Val Uncertain significance Single submitter
-
SIX5 p.Gly642Ser
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Gly668Glu Uncertain significance Single submitter
-
SIX5 p.Gly674Glu
Uncertain significance
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Gly684Glu
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Gly712Arg Uncertain significance Single submitter
- SIX5 p.Gly717Arg Uncertain significance Single submitter
-
SIX5 p.His157Arg
Uncertain significance
Single submitter
SIX5-related disorder
-
SIX5 p.His170Gln
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.His612Asn Uncertain significance Single submitter
-
SIX5 p.His612Tyr
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.His691Tyr Uncertain significance Single submitter
- SIX5 p.Ile519Phe Uncertain significance Single submitter
- SIX5 p.Ile562Val Uncertain significance Single submitter
- SIX5 p.Leu132Val Uncertain significance Single submitter
- SIX5 p.Leu237Val Uncertain significance Single submitter
- SIX5 p.Leu35Pro Uncertain significance Single submitter
-
SIX5 p.Leu395Pro
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Leu530Val Uncertain significance Single submitter
-
SIX5 p.Leu608Phe
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Leu617Phe Uncertain significance Single submitter
- SIX5 p.Leu644Pro Uncertain significance Single submitter
-
SIX5 p.Leu678Pro
Uncertain significance
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Leu84His
Uncertain significance
Single submitter
SIX5-related disorder
-
SIX5 p.Leu98Val
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro115His Uncertain significance Single submitter
-
SIX5 p.Pro125Ala
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro151Ser Uncertain significance Single submitter
- SIX5 p.Pro193Ser Uncertain significance Single submitter
- SIX5 p.Pro388Ser Uncertain significance Single submitter
-
SIX5 p.Pro403Ser
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro413Leu Uncertain significance Single submitter
- SIX5 p.Pro430Ala Uncertain significance Single submitter
- SIX5 p.Pro432Ser Uncertain significance Single submitter
-
SIX5 p.Pro439Leu
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro441Leu Uncertain significance Single submitter
- SIX5 p.Pro446Ser Uncertain significance Single submitter
-
SIX5 p.Pro459Arg
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Pro459Ser Uncertain significance Single submitter
- SIX5 p.Pro471Ser Uncertain significance Single submitter
- SIX5 p.Pro480Ser Uncertain significance Single submitter
- SIX5 p.Pro493Ser Uncertain significance Single submitter
- SIX5 p.Pro504Leu Uncertain significance Single submitter
- SIX5 p.Pro513Ser Uncertain significance Single submitter
- SIX5 p.Pro544Ser Uncertain significance Single submitter
- SIX5 p.Pro596Arg Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
- SIX5 p.Arg224Pro Uncertain significance Multiple submitters
-
SIX5 p.Asn223Ser
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Glu28Lys
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Phe539Leu
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Phe567Leu
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Phe86Leu
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Val731Ala
Uncertain significance
Multiple submitters
branchiootorenal syndrome 2
-
SIX5 p.Ala2Val
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Ala58Asp Uncertain significance Single submitter
- SIX5 p.Arg128Ser Uncertain significance Single submitter
-
SIX5 p.Arg168His
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Asp124Val Uncertain significance Single submitter
- SIX5 p.Asp184Glu Uncertain significance Single submitter
- SIX5 p.Gln495Leu Uncertain significance Single submitter
-
SIX5 p.Glu7Lys
Uncertain significance
Single submitter
branchiootorenal syndrome 2
- SIX5 p.Gly553Asp Uncertain significance Single submitter
- SIX5 p.Gly559Ser Uncertain significance Single submitter
- SIX5 p.Leu39Ser Uncertain significance Single submitter
- SIX5 p.Phe647Leu Uncertain significance Single submitter
- SIX5 p.Ser66Tyr Uncertain significance Single submitter
- SIX5 p.Ser730Leu Conflicting Single submitter
-
SIX5 p.Val126Ala
Uncertain significance
Single submitter
branchiootorenal syndrome 2
-
SIX5 p.Val205Ala
Uncertain significance
No assertion criteria
SIX5-related disorder
All SIX5 variants
Likely pathogenic 1
- p.Tyr225Ter No assertion criteria branchiootorenal syndrome 2
Conflicting classifications of pathogenicity 40
- p.Ala158Thr Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala18Glu Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala408Asp Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala527Thr Single submitter ⚠
- p.Ala54Val Single submitter ⚠
- p.Ala580Val Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala613Gly Single submitter ⚠
- p.Ala660Val Single submitter ⚠
- p.Ala681Val Single submitter ⚠
- p.Gln37= Single submitter
- p.Glu173Ter Single submitter branchiootorenal syndrome 2
- p.Glu210Lys Single submitter branchiootorenal syndrome 2 ⚠
- p.Glu396Lys Single submitter ⚠
- p.Glu682Gly Single submitter ⚠
- p.Glu721Lys Single submitter ⚠
- p.Glu96= Single submitter branchiootorenal syndrome 2
- p.Gly15Trp Single submitter
- p.Leu456Phe Single submitter ⚠
- p.Leu528Val Single submitter ⚠
- p.Leu556Met Single submitter ⚠
- p.Leu563Phe Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro441Ser Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro460Leu Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro488Ser Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro513Leu Single submitter ⚠
- p.Pro601Leu Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro645Ser Single submitter ⚠
- p.Pro648Arg Single submitter ⚠
- p.Pro648Leu Single submitter ⚠
- p.Pro64Leu Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro80Ser Single submitter ⚠
- p.Ser467Asn Single submitter SIX5-related disorder ⚠
- p.Ser730Leu Single submitter ⚠
- p.Thr238= Single submitter
- p.Thr434Met Single submitter ⚠
- p.Thr464Arg Single submitter ⚠
- p.Thr464Ser Single submitter branchiootorenal syndrome 2 ⚠
- p.Thr552Met Single submitter branchiootorenal syndrome 2 ⚠
- p.Val448Leu Single submitter branchiootorenal syndrome 2 ⚠
- p.Val551Met Single submitter branchiootorenal syndrome 2 ⚠
Benign 16
- c.1609+63G>C Multiple submitters
- c.803+123C>A Multiple submitters
- c.*306G>A Multiple submitters
- c.*331C>T Multiple submitters
- c.*45G>A Multiple submitters
- p.Leu556Val Multiple submitters branchiootorenal syndrome 2
- p.Pro635Ser Multiple submitters branchiootorenal syndrome 2
- p.Val595Met Multiple submitters
- p.Val693Met Multiple submitters branchiootorenal syndrome 2
- c.1609+30G>A Single submitter
- c.-148C>T Single submitter
- c.-43G>A Single submitter
- c.-59G>A Single submitter
- c.-76dup Single submitter
- p.Leu556= Single submitter
- p.Phe539= Single submitter
Benign/Likely benign 14
- c.1609+14C>T Multiple submitters branchiootorenal syndrome 2
- p.51GA[4] Multiple submitters
- p.Ala660Thr Multiple submitters
- p.Gln244= Multiple submitters
- p.Gly512= Multiple submitters
- p.Gly71= Multiple submitters
- p.Leu165= Multiple submitters
- p.Leu348= Multiple submitters branchiootorenal syndrome 2
- p.Leu655= Multiple submitters branchiootorenal syndrome 2
- p.Leu725= Multiple submitters branchiootorenal syndrome 2
- p.Phe208= Multiple submitters
- p.Pro125= Multiple submitters branchiootorenal syndrome 2
- p.Thr591= Multiple submitters branchiootorenal syndrome 2
- p.Val183= Multiple submitters branchiootorenal syndrome 2
Likely benign 138
- c.1609+12T>C Multiple submitters
- c.1610-19G>A Multiple submitters
- c.*105C>T Multiple submitters
- p.Ala625Thr Multiple submitters
- p.Ala660Glu Multiple submitters
- p.Asn543= Multiple submitters branchiootorenal syndrome 2
- p.Asp200= Multiple submitters branchiootorenal syndrome 2
- p.Asp715= Multiple submitters
- p.Glu26= Multiple submitters
- p.Glu653= Multiple submitters
- p.Gly15= Multiple submitters
- p.Gly181= Multiple submitters branchiootorenal syndrome 2
- p.Gly201= Multiple submitters branchiootorenal syndrome 2
- p.His517= Multiple submitters
- p.His612= Multiple submitters
- p.Leu36= Multiple submitters branchiootorenal syndrome 2
- p.Leu422= Multiple submitters branchiootorenal syndrome 2
- p.Leu456= Multiple submitters branchiootorenal syndrome 2
- p.Phe192= Multiple submitters
- p.Pro226= Multiple submitters
- p.Pro460= Multiple submitters
- p.Pro5= Multiple submitters branchiootorenal syndrome 2
- p.Pro648= Multiple submitters
- p.Ser212= Multiple submitters
- p.Ser331= Multiple submitters
- p.Ser66= Multiple submitters
- p.Thr464= Multiple submitters
- p.Thr552= Multiple submitters
- p.Tyr164= Multiple submitters branchiootorenal syndrome 2
- c.1609+18_1609+21del Single submitter
- c.1609+18C>T Single submitter
- c.1609+42G>A Single submitter
- c.1610-20C>G Single submitter
- c.1610-5C>A Single submitter
- c.1610-8C>G Single submitter
- c.-163A>G Single submitter
- c.-26G>T Single submitter
- c.-35G>C Single submitter
- c.-45G>A Single submitter
- c.-7G>A Single submitter
- c.*14C>T Single submitter
- c.*161C>G Single submitter
- c.*32T>C Single submitter
- p.Ala10= Single submitter
- p.Ala104= Single submitter
- p.Ala141= Single submitter
- p.Ala155= Single submitter
- p.Ala179= Single submitter
- p.Ala24del Single submitter branchiootorenal syndrome 2
- p.Ala264= Single submitter
- p.Ala32= Single submitter
- p.Ala426= Single submitter
- p.Ala498= Single submitter
- p.Ala499= Single submitter
- p.Ala555= Single submitter branchiootorenal syndrome 2
- p.Ala580= Single submitter
- p.Ala625= Single submitter
- p.Ala660= Single submitter
- p.Ala661= Single submitter
- p.Ala673= Single submitter
- p.Ala681= Single submitter
- p.Ala76= Single submitter
- p.Arg150= Single submitter
- p.Arg176= Single submitter
- p.Arg252= Single submitter
- p.Arg33= Single submitter
- p.Asp162= Single submitter
- p.Gln100= Single submitter
- p.Gln483His Single submitter
- p.Gln688Glu Single submitter
- p.Glu118= Single submitter
- p.Glu202= Single submitter
- p.Glu27= Single submitter
- p.Glu702= Single submitter
- p.Gly15= Single submitter
- p.Gly418= Single submitter
- p.Gly461= Single submitter
- p.Gly55= Single submitter
- p.Gly684= Single submitter
- p.His156= Single submitter
- p.Ile550= Single submitter
- p.Leu107= Single submitter
- p.Leu146= Single submitter
- p.Leu216= Single submitter
- p.Leu240= Single submitter
- p.Leu440= Single submitter
- p.Leu475= Single submitter
- p.Leu487= Single submitter
- p.Leu572= Single submitter
- p.Leu585= Single submitter
- p.Leu644= Single submitter
- p.Leu679= Single submitter
- p.Leu685= Single submitter
- p.Leu696= Single submitter
- p.Leu705= Single submitter
- p.Leu739= Single submitter
- p.Lys190= Single submitter
- p.Lys196= Single submitter
- p.Phe110= Single submitter
- p.Phe159= Single submitter
- p.Pro151= Single submitter
- p.Pro312= Single submitter
- p.Pro413= Single submitter
- p.Pro433= Single submitter
- p.Pro442= Single submitter
- p.Pro459Thr Single submitter
- p.Pro460Ala Single submitter
- p.Pro463= Single submitter
- p.Pro493= Single submitter
- p.Pro624= Single submitter
- p.Pro699= Single submitter
- p.Pro70= Single submitter
- p.Pro88= Single submitter
- p.Ser521= Single submitter
- p.Ser532= Single submitter
- p.Ser594= Single submitter
- p.Ser78Ala Single submitter
- p.Ser78Phe Single submitter
- p.Thr197= Single submitter
- p.Thr390= Single submitter
- p.Thr564= Single submitter
- p.Thr591Met Single submitter branchiootorenal syndrome 2
- p.Thr629= Single submitter
- p.Thr687= Single submitter
- p.Thr692= Single submitter
- p.Thr82= Single submitter
- p.Tyr140= Single submitter
- p.Tyr186= Single submitter
- p.Val205Ile Single submitter
- p.Val421= Single submitter
- p.Val429= Single submitter
- p.Val573= Single submitter
- p.Val662= Single submitter
- p.Val731= Single submitter
- p.Gly102= No assertion criteria SIX5-related disorder
- p.Leu99= No assertion criteria SIX5-related disorder
- p.Thr258= No assertion criteria SIX5-related disorder
- p.Val94= No assertion criteria SIX5-related disorder
Uncertain significance 277
- p.Ala13Val Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Ala155Thr Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Ala235Val Multiple submitters ⚠
- p.Ala408Thr Multiple submitters ⚠
- p.Ala411Val Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Ala584Val Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Ala626Thr Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Ala649Ser Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Ala673Thr Multiple submitters ⚠
- p.Ala722Gly Multiple submitters ⚠
- p.Ala77Val Multiple submitters ⚠
- p.Arg224Pro Multiple submitters ⚠
- p.Asn223Ser Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Asp698Glu Multiple submitters ⚠
- p.Asp700Asn Multiple submitters ⚠
- p.Gln477His Multiple submitters SIX5-related disorder ⚠
- p.Gln483Pro Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Glu28Lys Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Glu396Ala Multiple submitters ⚠
- p.Glu597Val Multiple submitters ⚠
- p.Glu75Val Multiple submitters SIX5-related disorder ⚠
- p.Glu79Asp Multiple submitters SIX5-related disorder ⚠
- p.Gly259Val Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Gly423Arg Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Gly500Arg Multiple submitters branchiootorenal syndrome 2
- p.Gly522Arg Multiple submitters branchiootorenal syndrome 2
- p.Gly717Glu Multiple submitters ⚠
- p.Ile561Val Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Leu165Val Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Leu541Met Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Leu657del Multiple submitters
- p.Leu657Met Multiple submitters ⚠
- p.Phe539Leu Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Phe567Leu Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Phe647Cys Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Phe86Leu Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Pro116Arg Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Pro153Ser Multiple submitters ⚠
- p.Pro265Leu Multiple submitters ⚠
- p.Pro493Leu Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Pro645Arg Multiple submitters ⚠
- p.Pro70Leu Multiple submitters ⚠
- p.Ser618Pro Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Ser66Phe Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Thr25Asn Multiple submitters ⚠
- p.Thr382Ile Multiple submitters ⚠
- p.Thr726Ser Multiple submitters branchiootorenal syndrome 2
- p.Val479Leu Multiple submitters branchiootorenal syndrome 2 ⚠
- p.Val573Ile Multiple submitters ⚠
- p.Val731Ala Multiple submitters branchiootorenal syndrome 2 ⚠
- c.1609+1G>A Single submitter branchiootorenal syndrome 2
- p.Ala10Val Single submitter ⚠
- p.Ala117Phe Single submitter branchiootorenal syndrome 2
- p.Ala13Pro Single submitter ⚠
- p.Ala155Val Single submitter ⚠
- p.Ala175Thr Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala18Ser Single submitter ⚠
- p.Ala20_Ala21insValAla Single submitter
- p.Ala218Gly Single submitter ⚠
- p.Ala24_Thr25insAla Single submitter
- p.Ala2Val Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala317Pro Single submitter ⚠
- p.Ala330Val Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala402Val Single submitter ⚠
- p.Ala426Gly Single submitter ⚠
- p.Ala42Ser Single submitter ⚠
- p.Ala435Val Single submitter ⚠
- p.Ala450Val Single submitter ⚠
- p.Ala50_Gly51insAla Single submitter
- p.Ala50del Single submitter
- p.Ala533Thr Single submitter ⚠
- p.Ala535Val Single submitter ⚠
- p.Ala57Glu Single submitter ⚠
- p.Ala58Asp Single submitter ⚠
- p.Ala592Thr Single submitter ⚠
- p.Ala607Asp Single submitter ⚠
- p.Ala611Val Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala61Val Single submitter ⚠
- p.Ala689Asp Single submitter ⚠
- p.Ala689Val Single submitter branchiootorenal syndrome 2 ⚠
- p.Ala6Ser Single submitter ⚠
- p.Ala76fs Single submitter branchiootorenal syndrome 2
- p.Arg128Ser Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg145Gln Single submitter SIX5-related disorder ⚠
- p.Arg168His Single submitter branchiootorenal syndrome 2 ⚠
- p.Arg174Trp Single submitter ⚠
- p.Arg213Gly Single submitter branchiootorenal syndrome 2 ⚠
- p.Arg233His Single submitter ⚠
- p.Arg233Leu Single submitter branchiootorenal syndrome 2
- p.Asn247His Single submitter ⚠
- p.Asn474= Single submitter branchiootorenal syndrome 2
- p.Asn474Lys Single submitter ⚠
- p.Asn515Ser Single submitter branchiootorenal syndrome 2 ⚠
- p.Asn520Thr Single submitter
- p.Asp124Val Single submitter ⚠
- p.Asp184Glu Single submitter ⚠
- p.Asp229Glu Single submitter ⚠
- p.Asp639_Pro645dup Single submitter
- p.Asp639Gly Single submitter ⚠
- p.Cys219Tyr Single submitter ⚠
- p.Cys266Tyr Single submitter ⚠
- p.Gln452Glu Single submitter ⚠
- p.Gln489Ter Single submitter
- p.Gln495Leu Single submitter ⚠
- p.Gln575_Ala584delinsArgCysGlnVal Single submitter
- p.Gln727Ter Single submitter branchiootorenal syndrome 2
- p.Glu148Lys Single submitter ⚠
- p.Glu17fs Single submitter branchiootorenal syndrome 2
- p.Glu202Ter Single submitter
- p.Glu203Lys Single submitter ⚠
- p.Glu26Gln Single submitter ⚠
- p.Glu392Val Single submitter ⚠
- p.Glu396Asp Single submitter ⚠
- p.Glu397Gly Single submitter ⚠
- p.Glu420Asp Single submitter ⚠
- p.Glu597Ter Single submitter
- p.Glu676Lys Single submitter branchiootorenal syndrome 2 ⚠
- p.Glu680Lys Single submitter branchiootorenal syndrome 2 ⚠
- p.Glu7_Ala10del Single submitter branchiootorenal syndrome 2
- p.Glu716del Single submitter
- p.Glu735Asp Single submitter ⚠
- p.Glu735Gln Single submitter ⚠
- p.Glu75Ala Single submitter ⚠
- p.Glu7Lys Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly11Ala Single submitter ⚠
- p.Gly11Arg Single submitter branchiootorenal syndrome 2
- p.Gly15_Ala22del Single submitter branchiootorenal syndrome 2
- p.Gly15Arg Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly15Val Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly201Val Single submitter ⚠
- p.Gly222Ala Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly222Asp Single submitter ⚠
- p.Gly261Arg Single submitter ⚠
- p.Gly391Arg Single submitter ⚠
- p.Gly391Glu Single submitter ⚠
- p.Gly407Trp Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly423Glu Single submitter ⚠
- p.Gly44Asp Single submitter ⚠
- p.Gly51Arg Single submitter ⚠
- p.Gly522Trp Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly524= Single submitter branchiootorenal syndrome 2
- p.Gly53Arg Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly553Asp Single submitter ⚠
- p.Gly553Ser Single submitter ⚠
- p.Gly559Ser Single submitter ⚠
- p.Gly60Val Single submitter ⚠
- p.Gly642Ser Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly654Arg Single submitter
- p.Gly668Arg Single submitter
- p.Gly668Glu Single submitter ⚠
- p.Gly674Glu Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly684fs Single submitter branchiootorenal syndrome 2
- p.Gly684Glu Single submitter branchiootorenal syndrome 2 ⚠
- p.Gly712Arg Single submitter ⚠
- p.Gly717Arg Single submitter ⚠
- p.His157Arg Single submitter SIX5-related disorder ⚠
- p.His170Gln Single submitter branchiootorenal syndrome 2 ⚠
- p.His612Asn Single submitter ⚠
- p.His612Tyr Single submitter branchiootorenal syndrome 2 ⚠
- p.His691Tyr Single submitter ⚠
- p.Ile519Phe Single submitter ⚠
- p.Ile562Val Single submitter ⚠
- p.Leu132Val Single submitter ⚠
- p.Leu237Val Single submitter ⚠
- p.Leu35Pro Single submitter ⚠
- p.Leu395Pro Single submitter branchiootorenal syndrome 2 ⚠
- p.Leu39Ser Single submitter ⚠
- p.Leu494_Gln495insProGlnAlaValGlyProLeu Single submitter
- p.Leu530Val Single submitter ⚠
- p.Leu608Phe Single submitter branchiootorenal syndrome 2 ⚠
- p.Leu617Phe Single submitter ⚠
- p.Leu644Pro Single submitter ⚠
- p.Leu678Pro Single submitter branchiootorenal syndrome 2 ⚠
- p.Leu696Gln Single submitter
- p.Leu84His Single submitter SIX5-related disorder ⚠
- p.Leu98Val Single submitter branchiootorenal syndrome 2 ⚠
- p.Lys209Arg Single submitter
- p.Phe567= Single submitter branchiootorenal syndrome 2
- p.Phe647Leu Single submitter ⚠
- p.Pro115His Single submitter ⚠
- p.Pro125Ala Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro151Ser Single submitter ⚠
- p.Pro193Ser Single submitter ⚠
- p.Pro388Ser Single submitter ⚠
- p.Pro403Ser Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro413Leu Single submitter ⚠
- p.Pro424= Single submitter branchiootorenal syndrome 2
- p.Pro430Ala Single submitter ⚠
- p.Pro430Thr Single submitter
- p.Pro432Ser Single submitter ⚠
- p.Pro439Leu Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro441= Single submitter branchiootorenal syndrome 2
- p.Pro441Leu Single submitter ⚠
- p.Pro446_Val448del Single submitter
- p.Pro446Ser Single submitter ⚠
- p.Pro459Arg Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro459Ser Single submitter ⚠
- p.Pro471Ser Single submitter ⚠
- p.Pro476Leu Single submitter
- p.Pro480Ser Single submitter ⚠
- p.Pro493Ser Single submitter ⚠
- p.Pro504Leu Single submitter ⚠
- p.Pro513Ser Single submitter ⚠
- p.Pro544Ser Single submitter ⚠
- p.Pro596Arg Single submitter ⚠
- p.Pro596Leu Single submitter ⚠
- p.Pro623Ser Single submitter ⚠
- p.Pro623Thr Single submitter ⚠
- p.Pro624Arg Single submitter ⚠
- p.Pro624fs Single submitter
- p.Pro624Leu Single submitter ⚠
- p.Pro635_Phe636delinsSer Single submitter branchiootorenal syndrome 2
- p.Pro635Leu Single submitter ⚠
- p.Pro638Ala Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro650Thr Single submitter ⚠
- p.Pro652Leu Single submitter ⚠
- p.Pro659Thr Single submitter ⚠
- p.Pro663Ser Single submitter SIX5-related disorder ⚠
- p.Pro67Arg Single submitter branchiootorenal syndrome 2 ⚠
- p.Pro699Arg Single submitter ⚠
- p.Pro699Ser Single submitter ⚠
- p.Pro70Arg Single submitter ⚠
- p.Pro732Thr Single submitter branchiootorenal syndrome 2
- p.Pro73Leu Single submitter ⚠
- p.Pro73Ser Single submitter ⚠
- p.Pro74Arg Single submitter ⚠
- p.Pro80Leu Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Ser123= Single submitter
- p.Ser149Gly Single submitter ⚠
- p.Ser241Leu Single submitter ⚠
- p.Ser532Leu Single submitter ⚠
- p.Ser548Asn Single submitter ⚠
- p.Ser637Cys Single submitter ⚠
- p.Ser637Phe Single submitter branchiootorenal syndrome 2 ⚠
- p.Ser640Tyr Single submitter ⚠
- p.Ser66Tyr Single submitter ⚠
- p.Ser672Asn Single submitter ⚠
- p.Thr204Arg Single submitter ⚠
- p.Thr236Ala Single submitter ⚠
- p.Thr25Ala Single submitter ⚠
- p.Thr405Ile Single submitter branchiootorenal syndrome 2 ⚠
- p.Thr434= Single submitter branchiootorenal syndrome 2
- p.Thr591Ser Single submitter ⚠
- p.Thr709Ala Single submitter ⚠
- p.Thr82Ala Single submitter ⚠
- p.Tyr186Cys Single submitter ⚠
- p.Tyr206Cys Single submitter ⚠
- p.Val126Ala Single submitter branchiootorenal syndrome 2 ⚠
- p.Val19_Ala20insVal Single submitter
- p.Val19Ala Single submitter ⚠
- p.Val393Leu Single submitter ⚠
- p.Val421Ala Single submitter branchiootorenal syndrome 2 ⚠
- p.Val421Ile Single submitter branchiootorenal syndrome 2 ⚠
- p.Val445Leu Single submitter branchiootorenal syndrome 2 ⚠
- p.Val453Ala Single submitter ⚠
- p.Val484Leu Single submitter branchiootorenal syndrome 2 ⚠
- p.Val484Met Single submitter ⚠
- p.Val491Met Single submitter ⚠
- p.Val516Leu Single submitter ⚠
- p.Val516Met Single submitter ⚠
- p.Val525Met Single submitter ⚠
- p.Val551Leu Single submitter ⚠
- p.Val554fs Single submitter branchiootorenal syndrome 2
- p.Val573Leu Single submitter ⚠
- p.Val602= Single submitter branchiootorenal syndrome 2
- p.Val662Met Single submitter ⚠
- p.Val664Phe Single submitter branchiootorenal syndrome 2 ⚠
- p.Val714Ile Single submitter ⚠
- p.Val724Ile Single submitter ⚠
- p.Val91fs Single submitter
- p.Ala131Pro No assertion criteria ⚠
- p.Ala24_Thr25insAlaAla No assertion criteria SIX5-related disorder
- p.Gly642Val No assertion criteria SIX5-related disorder ⚠
- p.Val205Ala No assertion criteria SIX5-related disorder ⚠