ANO6 — 394 ClinVar variants
All ClinVar germline ANO6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →
23 Pathogenic · 15 Likely pathogenic · 21 Conflicting · 38 Benign · 8 Benign/Likely benign · 137 Likely benign · 152 Uncertain significance
Full ANO6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 164
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ANO6 p.Arg154Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ANO6 p.Asn63Lys
Conflicting
Single submitter
Inborn genetic diseases
-
ANO6 p.Glu16Asp
Conflicting
Single submitter
Inborn genetic diseases
-
ANO6 p.Gly494Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ANO6 p.Ile32Phe
Conflicting
Single submitter
Inborn genetic diseases
- ANO6 p.Leu780Ile Conflicting Single submitter
-
ANO6 p.Val429Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 105
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ANO6 p.Arg253Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Arg253His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Arg896Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Asn149Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Asn54Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Asn7Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Glu111Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Gly598Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Ile139Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Ile174Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ANO6 p.Ile196Val Uncertain significance Multiple submitters
-
ANO6 p.Ile297Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Lys344Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ANO6 p.Lys487Glu Uncertain significance Multiple submitters
-
ANO6 p.Met554Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Tyr476Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Val677Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Ala418Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ala507Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ala682Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ala786Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg218Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg254Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg419Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Arg440His Uncertain significance Single submitter
-
ANO6 p.Arg451Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg46Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg648Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg712Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Arg809Cys Uncertain significance Single submitter
-
ANO6 p.Arg809Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Arg80Lys Uncertain significance Single submitter
-
ANO6 p.Arg862His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Asn204Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Asn27Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Asn903Asp Uncertain significance Single submitter
-
ANO6 p.Asn903Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Asp35Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Asp58Glu Uncertain significance Single submitter
- ANO6 p.Asp652Gly Uncertain significance Single submitter
-
ANO6 p.Asp720Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Cys455Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Gln327Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Glu257Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Glu293Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Glu421Lys Uncertain significance Single submitter
-
ANO6 p.Glu594Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Gly641Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Gly722Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Gly891Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.His338Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.His43Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.His803Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.His879Arg Uncertain significance Single submitter
-
ANO6 p.Ile450Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Ile69Asn Uncertain significance Single submitter
-
ANO6 p.Ile733Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Ile776Thr Uncertain significance Single submitter
-
ANO6 p.Ile825Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Ile898Thr Uncertain significance Single submitter
- ANO6 p.Leu133Phe Uncertain significance Single submitter
-
ANO6 p.Leu247Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Leu309Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Leu36Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Leu626Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Leu706Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Leu905Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Lys152Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Lys490Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Lys589Arg Uncertain significance Single submitter
- ANO6 p.Met308Val Uncertain significance Single submitter
-
ANO6 p.Met347Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Met658Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Met890Ile Uncertain significance Single submitter
-
ANO6 p.Phe555Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Pro205Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Pro34Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Pro48Leu Uncertain significance Single submitter
-
ANO6 p.Pro540Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Pro726Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Pro796Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ser156Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ser479Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ser5Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ser747Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ser760Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ser781Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Ser792Ile Uncertain significance Single submitter
-
ANO6 p.Ser865Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Thr207Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Thr47Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Thr542Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Trp272Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Tyr241Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Tyr476Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Tyr527Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Tyr579His Uncertain significance Single submitter
-
ANO6 p.Tyr590His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Val24Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Val530Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Val693Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Val754Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Val785Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Val830Glu Uncertain significance Single submitter
-
ANO6 p.Thr887Met
Uncertain significance
No assertion criteria
Scott syndrome
Predictors split 52
The independent predictors disagree with each other — read with care.
- ANO6 p.Ala128Thr Benign Multiple submitters
-
ANO6 p.Arg276Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Arg399Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Arg635Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Arg648Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Arg862Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Asp193Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Glu365Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Pro818Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ANO6 p.Ala243Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ala313Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Ala703Ser Conflicting Single submitter
-
ANO6 p.Ala832Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg154Trp
Conflicting
Single submitter
Inborn genetic diseases
- ANO6 p.Arg190Gln Uncertain significance Single submitter
-
ANO6 p.Arg190Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg218Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Arg399His Uncertain significance Single submitter
- ANO6 p.Arg425Gln Conflicting Single submitter
-
ANO6 p.Arg440Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Arg451Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Arg896Trp Conflicting Single submitter
-
ANO6 p.Asn326His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Asn361Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Asp35Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Asp858Asn Conflicting Single submitter
-
ANO6 p.Gln109Arg
Conflicting
Single submitter
Inborn genetic diseases
- ANO6 p.Glu423Gln Likely benign Single submitter
- ANO6 p.Gly765Arg Conflicting Single submitter
-
ANO6 p.Gly765Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ile522Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Ile522Thr
Conflicting
Single submitter
Inborn genetic diseases
- ANO6 p.Ile727Met Uncertain significance Single submitter
-
ANO6 p.Ile743Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Leu73Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Lys220Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Lys861Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Ser565Ala Uncertain significance Single submitter
- ANO6 p.Ser758Phe Uncertain significance Single submitter
- ANO6 p.Thr135Met Uncertain significance Single submitter
-
ANO6 p.Thr427Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Thr495Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Thr779Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Thr874Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Tyr136Cys Uncertain significance Single submitter
- ANO6 p.Tyr304Cys Uncertain significance Single submitter
-
ANO6 p.Val315Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ANO6 p.Val336Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- ANO6 p.Val429Leu Uncertain significance Single submitter
-
ANO6 p.Val761Ile
Likely benign
Single submitter
Inborn genetic diseases
- ANO6 p.Val761Phe Uncertain significance Single submitter
-
ANO6 p.Arg541Lys
Uncertain significance
No assertion criteria
Scott syndrome
All ANO6 variants
Pathogenic 23
- c.1387-1G>T Multiple submitters Scott syndrome
- c.1308+2T>C Single submitter Scott syndrome
- p.Arg398Ter Single submitter
- p.Arg419Ter Single submitter Scott syndrome
- p.Arg425Ter Single submitter
- p.Arg46Ter Single submitter
- p.Arg635Ter Single submitter
- p.Arg638Ter Single submitter
- p.Arg80Ter Single submitter
- p.Asn739fs Single submitter
- p.Asn89fs Single submitter
- p.Gln729Ter Single submitter
- p.Glu180Ter Single submitter
- p.Lys369Ter Single submitter
- p.Phe680fs Single submitter
- p.Ser565Ter Single submitter
- p.Thr805fs Single submitter
- p.Tyr405Ter Single submitter
- p.Tyr563Ter Single submitter
- p.Tyr99Ter Single submitter
- c.747+1G>A No assertion criteria Scott syndrome
- p.Arg276Ter No assertion criteria Scott syndrome
- p.Trp407fs No assertion criteria Scott syndrome
Likely pathogenic 15
- c.150+1G>C Single submitter
- c.1612+1G>T Single submitter
- c.1783-15_1841del Single submitter
- c.1880+1G>C Single submitter ANO6-related disorder
- c.2217+1G>A Single submitter
- c.2421-1G>C Single submitter
- c.634-1G>A Single submitter
- p.Ala418fs Single submitter ANO6-related disorder
- p.Ala507fs Single submitter hydrocephalus, nonsyndromic, autosomal recessive 2
- p.Arg638fs Single submitter Scott syndrome
- p.Arg648Ter Single submitter
- p.Leu625Ter Single submitter ANO6-related disorder
- p.Thr506fs Single submitter Scott syndrome
- p.Trp358Ter Single submitter Scott syndrome
- p.Tyr75fs Single submitter Scott syndrome
Conflicting classifications of pathogenicity 21
- c.1880+1G>A Single submitter Scott syndrome
- p.Ala703Ser Single submitter ⚠
- p.Arg154Gln Single submitter Inborn genetic diseases ⚠
- p.Arg154Trp Single submitter Inborn genetic diseases ⚠
- p.Arg425Gln Single submitter ⚠
- p.Arg896Trp Single submitter ⚠
- p.Asn63Lys Single submitter Inborn genetic diseases ⚠
- p.Asp858= Single submitter Scott syndrome
- p.Asp858Asn Single submitter ⚠
- p.Gln109Arg Single submitter Inborn genetic diseases ⚠
- p.Glu16Asp Single submitter Inborn genetic diseases ⚠
- p.Gly494Glu Single submitter Inborn genetic diseases ⚠
- p.Gly765Arg Single submitter ⚠
- p.His843= Single submitter
- p.Ile32Phe Single submitter Inborn genetic diseases ⚠
- p.Ile522Thr Single submitter Inborn genetic diseases ⚠
- p.Leu780fs Single submitter ANO6-related disorder
- p.Leu780Ile Single submitter ⚠
- p.Phe676= Single submitter
- p.Ser747= Single submitter
- p.Val429Ile Single submitter Inborn genetic diseases ⚠
Benign 38
- c.1165+138G>A Multiple submitters
- c.1387-66C>A Multiple submitters
- c.150+14C>T Multiple submitters
- c.1612+6G>A Multiple submitters
- c.1783-13T>C Multiple submitters
- c.1880+104T>A Multiple submitters
- c.1881-31G>A Multiple submitters
- c.2218-84G>C Multiple submitters
- c.71-31584G>A Multiple submitters
- c.71-62C>A Multiple submitters
- c.747+103A>G Multiple submitters
- c.748-7G>A Multiple submitters
- c.*34G>A Multiple submitters
- p.Ala128Thr Multiple submitters ⚠
- p.Phe53= Multiple submitters
- p.Pro34= Multiple submitters
- p.Thr135= Multiple submitters
- c.1165+21del Single submitter
- c.1165+21dup Single submitter
- c.1166-17T>C Single submitter
- c.1386+242dup Single submitter
- c.151-289G>A Single submitter
- c.2011+300A>G Single submitter
- c.2012-15C>G Single submitter
- c.2217+247G>A Single submitter
- c.2218-262_2218-249del Single submitter
- c.2421-258A>G Single submitter
- c.2421-289G>A Single submitter
- c.2527-8del Single submitter
- c.634-7T>C Single submitter
- c.70+252C>T Single submitter
- c.71-8817A>C Single submitter
- c.71-9129G>A Single submitter
- c.747+19dup Single submitter
- c.998+5C>G Single submitter
- c.999-19T>C Single submitter
- p.Glu76= Single submitter
- p.Tyr422= Single submitter
Benign/Likely benign 8
- c.1612+12C>G Multiple submitters
- c.1880+17A>G Multiple submitters
- c.279+15T>C Multiple submitters
- p.Ala312= Multiple submitters
- p.Asp77= Multiple submitters
- p.Gln92= Multiple submitters
- p.Met728Thr Multiple submitters
- p.Met886Val Multiple submitters
Likely benign 137
- c.1309-15T>C Multiple submitters
- c.1309-8G>T Multiple submitters
- c.2526+10G>C Multiple submitters
- c.345+11del Multiple submitters
- c.71-17del Multiple submitters
- p.Ala570= Multiple submitters
- p.Ala98= Multiple submitters
- p.Leu550= Multiple submitters
- p.Phe788= Multiple submitters
- p.Phe851= Multiple submitters
- p.Pro920= Multiple submitters
- p.Ser640= Multiple submitters
- p.Tyr298= Multiple submitters
- p.Val892Leu Multiple submitters
- c.1104+12T>G Single submitter
- c.1165+20_1165+21del Single submitter
- c.1165+20_1165+21dup Single submitter
- c.1308+12C>T Single submitter
- c.1308+13G>A Single submitter
- c.1308+19A>C Single submitter
- c.1309-13T>A Single submitter
- c.1309-15T>G Single submitter
- c.1309-18T>C Single submitter
- c.1387-4T>C Single submitter
- c.150+15T>G Single submitter
- c.150+18A>G Single submitter
- c.150+20C>T Single submitter
- c.151-20T>C Single submitter
- c.151-6A>G Single submitter
- c.1612+14A>G Single submitter
- c.1782+18T>C Single submitter
- c.1783-14T>G Single submitter
- c.1881-14G>A Single submitter
- c.2011+14G>T Single submitter
- c.2012-8A>G Single submitter
- c.2217+12T>C Single submitter
- c.2217+14A>T Single submitter
- c.2217+17T>C Single submitter
- c.2217+19T>C Single submitter
- c.2218-18_2218-15del Single submitter
- c.2420+16C>T Single submitter
- c.2420+19G>A Single submitter
- c.2421-14C>T Single submitter
- c.2526+16_2526+19dup Single submitter
- c.2526+16T>C Single submitter
- c.2527-17C>A Single submitter
- c.279+13G>A Single submitter
- c.280-12T>G Single submitter
- c.345+15C>G Single submitter
- c.346-11T>C Single submitter
- c.346-4A>G Single submitter
- c.633+19T>A Single submitter
- c.70+11G>A Single submitter
- c.71-16A>G Single submitter
- c.71-4T>C Single submitter
- c.71-8del Single submitter
- c.71-8G>A Single submitter
- c.747+15A>G Single submitter
- c.747+7T>C Single submitter
- c.999-12C>T Single submitter
- p.Ala184= Single submitter
- p.Ala300= Single submitter
- p.Ala445= Single submitter
- p.Ala703= Single submitter
- p.Ala786= Single submitter
- p.Arg199= Single submitter
- p.Arg398= Single submitter
- p.Arg419= Single submitter
- p.Arg591= Single submitter
- p.Arg896= Single submitter
- p.Asn326= Single submitter
- p.Asn524= Single submitter
- p.Asp171= Single submitter
- p.Asp64= Single submitter
- p.Gln255Pro Single submitter Inborn genetic diseases
- p.Glu15= Single submitter
- p.Glu271= Single submitter
- p.Glu411= Single submitter
- p.Glu423Gln Single submitter ⚠
- p.Glu433= Single submitter
- p.Glu716= Single submitter
- p.Gly323= Single submitter
- p.Gly675= Single submitter
- p.Gly730= Single submitter
- p.Gly794Glu Single submitter Inborn genetic diseases
- p.Gly801= Single submitter
- p.His127= Single submitter
- p.His817= Single submitter
- p.Ile467= Single submitter
- p.Leu108= Single submitter
- p.Leu268= Single submitter
- p.Leu36= Single submitter
- p.Leu454= Single submitter
- p.Leu464= Single submitter
- p.Leu539= Single submitter
- p.Leu604= Single submitter
- p.Leu679= Single submitter
- p.Leu692= Single submitter
- p.Leu73= Single submitter
- p.Leu835= Single submitter
- p.Leu877= Single submitter
- p.Lys289= Single submitter
- p.Phe214= Single submitter
- p.Phe373= Single submitter
- p.Pro262= Single submitter
- p.Pro356= Single submitter
- p.Pro48= Single submitter
- p.Pro489= Single submitter
- p.Pro865= Single submitter
- p.Ser38= Single submitter
- p.Ser469= Single submitter
- p.Ser683= Single submitter
- p.Ser760= Single submitter
- p.Ser769= Single submitter
- p.Thr113= Single submitter
- p.Thr160= Single submitter
- p.Thr378= Single submitter
- p.Thr678= Single submitter
- p.Thr708= Single submitter
- p.Thr746= Single submitter
- p.Thr805= Single submitter
- p.Thr887= Single submitter
- p.Tyr590= Single submitter
- p.Tyr667= Single submitter
- p.Tyr756= Single submitter
- p.Tyr764= Single submitter
- p.Val380= Single submitter
- p.Val383= Single submitter
- p.Val470= Single submitter
- p.Val483= Single submitter
- p.Val761Ile Single submitter Inborn genetic diseases ⚠
- p.Val785= Single submitter
- p.Val844Ile Single submitter Inborn genetic diseases
- c.2527-11_2527-8del No assertion criteria ANO6-related disorder
- c.2527-12_2527-8del No assertion criteria ANO6-related disorder
- c.279+9T>G No assertion criteria ANO6-related disorder
- p.Asp890= No assertion criteria ANO6-related disorder
Uncertain significance 152
- p.Arg253Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg253His Multiple submitters Inborn genetic diseases ⚠
- p.Arg276Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg399Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg635Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg648Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg862Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg896Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn149Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn54Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn7Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp193Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Cys806= Multiple submitters
- p.Glu111Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu365Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly598Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile139Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile174Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile196Val Multiple submitters ⚠
- p.Ile297Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys344Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys487Glu Multiple submitters ⚠
- p.Met554Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro818Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr476Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val677Ile Multiple submitters Inborn genetic diseases ⚠
- c.1880+3G>C Single submitter
- c.2526+13T>A Single submitter
- c.748-8C>T Single submitter
- p.Ala243Ser Single submitter Inborn genetic diseases ⚠
- p.Ala313Thr Single submitter Inborn genetic diseases ⚠
- p.Ala418Val Single submitter Inborn genetic diseases ⚠
- p.Ala507Asp Single submitter Inborn genetic diseases ⚠
- p.Ala682Gly Single submitter Inborn genetic diseases ⚠
- p.Ala786Thr Single submitter Inborn genetic diseases ⚠
- p.Ala832Thr Single submitter Inborn genetic diseases ⚠
- p.Arg190Gln Single submitter ⚠
- p.Arg190Trp Single submitter Inborn genetic diseases ⚠
- p.Arg218Gln Single submitter Inborn genetic diseases ⚠
- p.Arg218Trp Single submitter Inborn genetic diseases ⚠
- p.Arg254Cys Single submitter Inborn genetic diseases ⚠
- p.Arg399His Single submitter ⚠
- p.Arg419Gln Single submitter Inborn genetic diseases ⚠
- p.Arg440Cys Single submitter Inborn genetic diseases ⚠
- p.Arg440His Single submitter ⚠
- p.Arg451Gln Single submitter Inborn genetic diseases ⚠
- p.Arg451Trp Single submitter Inborn genetic diseases ⚠
- p.Arg46Gln Single submitter Inborn genetic diseases ⚠
- p.Arg648Gln Single submitter Inborn genetic diseases ⚠
- p.Arg712Leu Single submitter Inborn genetic diseases ⚠
- p.Arg809Cys Single submitter ⚠
- p.Arg809Gly Single submitter Inborn genetic diseases ⚠
- p.Arg80Lys Single submitter ⚠
- p.Arg862His Single submitter Inborn genetic diseases ⚠
- p.Asn204Ser Single submitter Inborn genetic diseases ⚠
- p.Asn27Lys Single submitter Inborn genetic diseases ⚠
- p.Asn326His Single submitter Inborn genetic diseases ⚠
- p.Asn361Ser Single submitter Inborn genetic diseases ⚠
- p.Asn903Asp Single submitter ⚠
- p.Asn903Ser Single submitter Inborn genetic diseases ⚠
- p.Asp35Gly Single submitter Inborn genetic diseases ⚠
- p.Asp35Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp58Glu Single submitter ⚠
- p.Asp652Gly Single submitter ⚠
- p.Asp720Gly Single submitter Inborn genetic diseases ⚠
- p.Cys455Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln327Arg Single submitter Inborn genetic diseases ⚠
- p.Glu16_Asp17insGlu Single submitter
- p.Glu257Lys Single submitter Inborn genetic diseases ⚠
- p.Glu293Gly Single submitter Inborn genetic diseases ⚠
- p.Glu421Lys Single submitter ⚠
- p.Glu594Ala Single submitter Inborn genetic diseases ⚠
- p.Gly641Glu Single submitter Inborn genetic diseases ⚠
- p.Gly722Glu Single submitter Inborn genetic diseases ⚠
- p.Gly765Glu Single submitter Inborn genetic diseases ⚠
- p.Gly891Glu Single submitter Inborn genetic diseases ⚠
- p.His338Arg Single submitter Inborn genetic diseases ⚠
- p.His43Tyr Single submitter Inborn genetic diseases ⚠
- p.His803Arg Single submitter Inborn genetic diseases ⚠
- p.His879Arg Single submitter ⚠
- p.Ile450Val Single submitter Inborn genetic diseases ⚠
- p.Ile522Phe Single submitter Inborn genetic diseases ⚠
- p.Ile69Asn Single submitter ⚠
- p.Ile727Met Single submitter ⚠
- p.Ile733Val Single submitter Inborn genetic diseases ⚠
- p.Ile743Val Single submitter Inborn genetic diseases ⚠
- p.Ile776Thr Single submitter ⚠
- p.Ile825Asn Single submitter Inborn genetic diseases ⚠
- p.Ile898Thr Single submitter ⚠
- p.Leu133Phe Single submitter ⚠
- p.Leu247Phe Single submitter Inborn genetic diseases ⚠
- p.Leu309Ile Single submitter Inborn genetic diseases ⚠
- p.Leu36Val Single submitter Inborn genetic diseases ⚠
- p.Leu626Ser Single submitter Inborn genetic diseases ⚠
- p.Leu706Pro Single submitter Inborn genetic diseases ⚠
- p.Leu73Ile Single submitter Inborn genetic diseases ⚠
- p.Leu905Ser Single submitter Inborn genetic diseases ⚠
- p.Lys152Glu Single submitter Inborn genetic diseases ⚠
- p.Lys220Met Single submitter Inborn genetic diseases ⚠
- p.Lys490Glu Single submitter Inborn genetic diseases ⚠
- p.Lys589Arg Single submitter ⚠
- p.Lys861Asn Single submitter Inborn genetic diseases ⚠
- p.Lys888_Asn889insIle Single submitter
- p.Met308Val Single submitter ⚠
- p.Met347Ile Single submitter Inborn genetic diseases ⚠
- p.Met658Val Single submitter Inborn genetic diseases ⚠
- p.Met890Ile Single submitter ⚠
- p.Phe555Val Single submitter Inborn genetic diseases ⚠
- p.Pro205Ala Single submitter Inborn genetic diseases ⚠
- p.Pro34Leu Single submitter Inborn genetic diseases ⚠
- p.Pro48Leu Single submitter ⚠
- p.Pro540Ser Single submitter Inborn genetic diseases ⚠
- p.Pro726Arg Single submitter Inborn genetic diseases ⚠
- p.Pro796Leu Single submitter Inborn genetic diseases ⚠
- p.Ser156Leu Single submitter Inborn genetic diseases ⚠
- p.Ser479Pro Single submitter Inborn genetic diseases ⚠
- p.Ser565Ala Single submitter ⚠
- p.Ser5Asn Single submitter Inborn genetic diseases ⚠
- p.Ser747Leu Single submitter Inborn genetic diseases ⚠
- p.Ser758Phe Single submitter ⚠
- p.Ser760Pro Single submitter Inborn genetic diseases ⚠
- p.Ser781Pro Single submitter Inborn genetic diseases ⚠
- p.Ser792Ile Single submitter ⚠
- p.Ser865Asn Single submitter Inborn genetic diseases ⚠
- p.Thr135Met Single submitter ⚠
- p.Thr207Ile Single submitter Inborn genetic diseases ⚠
- p.Thr427Ser Single submitter Inborn genetic diseases ⚠
- p.Thr47Ala Single submitter Inborn genetic diseases ⚠
- p.Thr495Ile Single submitter Inborn genetic diseases ⚠
- p.Thr542Ser Single submitter Inborn genetic diseases ⚠
- p.Thr779Ala Single submitter Inborn genetic diseases ⚠
- p.Thr874Ile Single submitter Inborn genetic diseases ⚠
- p.Trp272Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr136Cys Single submitter ⚠
- p.Tyr241Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr304Cys Single submitter ⚠
- p.Tyr476Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr527Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr579His Single submitter ⚠
- p.Tyr590His Single submitter Inborn genetic diseases ⚠
- p.Val24Ala Single submitter Inborn genetic diseases ⚠
- p.Val315Ile Single submitter Inborn genetic diseases ⚠
- p.Val336Leu Single submitter Inborn genetic diseases ⚠
- p.Val429Leu Single submitter ⚠
- p.Val530Gly Single submitter Inborn genetic diseases ⚠
- p.Val693Leu Single submitter Inborn genetic diseases ⚠
- p.Val754Leu Single submitter Inborn genetic diseases ⚠
- p.Val761Phe Single submitter ⚠
- p.Val785Ala Single submitter Inborn genetic diseases ⚠
- p.Val830Glu Single submitter ⚠
- p.Arg541Lys No assertion criteria Scott syndrome ⚠
- p.Thr887Met No assertion criteria Scott syndrome ⚠