NCSTN — 556 ClinVar variants
All ClinVar germline NCSTN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →
15 Pathogenic · 10 Likely pathogenic · 8 Conflicting · 16 Benign · 19 Benign/Likely benign · 209 Likely benign · 279 Uncertain significance
Full NCSTN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 241
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.
-
NCSTN p.Ala315Val
Conflicting
Single submitter
acne inversa, familial, 1
-
NCSTN p.Arg391Gln
Conflicting
Single submitter
Inborn genetic diseases
-
NCSTN p.Ser67Ile
Conflicting
Single submitter
Inborn genetic diseases
-
NCSTN p.Thr400Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 201
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 201
-
NCSTN p.Ala207Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Ala298Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Ala48Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg117Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg19His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg232Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg432Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg520His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg583Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Asn169Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Asn580Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Asn596Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Asn691Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Gln203Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Gln305His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NCSTN p.Glu357Asp Uncertain significance Multiple submitters
-
NCSTN p.Glu357Gly
Uncertain significance
Multiple submitters
acne inversa, familial, 1
-
NCSTN p.Glu469Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Glu601Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Glu77Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NCSTN p.Gly29Val Uncertain significance Multiple submitters
-
NCSTN p.Gly405Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.His610Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Ile263Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Leu617His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Pro154Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Pro701Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Ser404Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Ser67Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Thr517Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Tyr152Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Tyr152His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Tyr173Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Tyr688Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Val247Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Val25Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Val354Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Val368Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Val440Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NCSTN p.Val465Met Uncertain significance Multiple submitters
- NCSTN p.Ala122Thr Uncertain significance Single submitter
- NCSTN p.Ala131Val Uncertain significance Single submitter
- NCSTN p.Ala157Ser Uncertain significance Single submitter
-
NCSTN p.Ala157Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Ala279Val Uncertain significance Single submitter
- NCSTN p.Ala28Thr Uncertain significance Single submitter
- NCSTN p.Ala28Val Uncertain significance Single submitter
- NCSTN p.Ala298Ser Uncertain significance Single submitter
- NCSTN p.Ala300Ser Uncertain significance Single submitter
- NCSTN p.Ala406Val Uncertain significance Single submitter
- NCSTN p.Ala410Val Uncertain significance Single submitter
- NCSTN p.Ala433Val Uncertain significance Single submitter
- NCSTN p.Ala447Val Uncertain significance Single submitter
- NCSTN p.Ala556Thr Uncertain significance Single submitter
- NCSTN p.Ala694Thr Uncertain significance Single submitter
- NCSTN p.Arg15Gly Uncertain significance Single submitter
- NCSTN p.Arg19Cys Uncertain significance Single submitter
-
NCSTN p.Arg19Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Arg281Trp Uncertain significance Single submitter
-
NCSTN p.Arg285His
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Arg323His Uncertain significance Single submitter
- NCSTN p.Arg32Met Uncertain significance Single submitter
- NCSTN p.Arg38Gly Uncertain significance Single submitter
- NCSTN p.Arg429Gln Uncertain significance Single submitter
-
NCSTN p.Arg432Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Arg434Gln Uncertain significance Single submitter
- NCSTN p.Arg52Cys Uncertain significance Single submitter
-
NCSTN p.Arg539Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Arg616Gln Uncertain significance Single submitter
- NCSTN p.Arg619Gln Uncertain significance Single submitter
- NCSTN p.Arg619Leu Uncertain significance Single submitter
- NCSTN p.Arg619Trp Uncertain significance Single submitter
- NCSTN p.Arg626Gln Uncertain significance Single submitter
- NCSTN p.Arg657His Uncertain significance Single submitter
- NCSTN p.Arg659Trp Uncertain significance Single submitter
- NCSTN p.Arg702Gln Uncertain significance Single submitter
- NCSTN p.Asn150Tyr Uncertain significance Single submitter
- NCSTN p.Asn531Ser Uncertain significance Single submitter
- NCSTN p.Asn91Lys Uncertain significance Single submitter
- NCSTN p.Asp106Asn Uncertain significance Single submitter
-
NCSTN p.Asp11His
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Asp346Asn Uncertain significance Single submitter
- NCSTN p.Asp381His Uncertain significance Single submitter
- NCSTN p.Asp443His Uncertain significance Single submitter
- NCSTN p.Asp476Glu Uncertain significance Single submitter
-
NCSTN p.Asp548His
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Asp655Glu Uncertain significance Single submitter
- NCSTN p.Cys140Gly Uncertain significance Single submitter
- NCSTN p.Cys689Ser Uncertain significance Single submitter
-
NCSTN p.Gln139Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Gln367Glu Uncertain significance Single submitter
-
NCSTN p.Gln393Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Gln428Arg Uncertain significance Single submitter
-
NCSTN p.Gln454Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Gln568Lys Uncertain significance Single submitter
- NCSTN p.Gln59His Uncertain significance Single submitter
- NCSTN p.Gln639Arg Uncertain significance Single submitter
- NCSTN p.Gln83Arg Uncertain significance Single submitter
- NCSTN p.Glu155Asp Uncertain significance Single submitter
- NCSTN p.Glu161Gln Uncertain significance Single submitter
-
NCSTN p.Glu310Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Glu388Gly Uncertain significance Single submitter
- NCSTN p.Glu80Asp Uncertain significance Single submitter
- NCSTN p.Glu99Gly Uncertain significance Single submitter
- NCSTN p.Gly133Asp Uncertain significance Single submitter
- NCSTN p.Gly146Arg Uncertain significance Single submitter
- NCSTN p.Gly146Ser Uncertain significance Single submitter
- NCSTN p.Gly294Glu Uncertain significance Single submitter
- NCSTN p.Gly29Asp Uncertain significance Single submitter
- NCSTN p.Gly33Val Uncertain significance Single submitter
-
NCSTN p.Gly366Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCSTN p.Gly407Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Gly504Glu Uncertain significance Single submitter
- NCSTN p.Gly549Arg Uncertain significance Single submitter
- NCSTN p.Gly5Glu Uncertain significance Single submitter
- NCSTN p.Gly5Val Uncertain significance Single submitter
- NCSTN p.Gly678Ala Uncertain significance Single submitter
- NCSTN p.Gly6Val Uncertain significance Single submitter
- NCSTN p.Gly9Ala Uncertain significance Single submitter
- NCSTN p.Gly9Glu Uncertain significance Single submitter
- NCSTN p.Gly9Val Uncertain significance Single submitter
-
NCSTN p.His444Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.His58Arg Uncertain significance Single submitter
- NCSTN p.His74Gln Uncertain significance Single submitter
-
NCSTN p.Ile162Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Ile180Val Uncertain significance Single submitter
- NCSTN p.Ile192Val Uncertain significance Single submitter
-
NCSTN p.Ile242Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Ile42Val Uncertain significance Single submitter
- NCSTN p.Ile463Val Uncertain significance Single submitter
- NCSTN p.Ile537Val Uncertain significance Single submitter
- NCSTN p.Ile555Val Uncertain significance Single submitter
- NCSTN p.Ile66Val Uncertain significance Single submitter
-
NCSTN p.Ile671Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Ile685Val Uncertain significance Single submitter
- NCSTN p.Ile699Leu Uncertain significance Single submitter
- NCSTN p.Ile699Val Uncertain significance Single submitter
- NCSTN p.Leu17Val Uncertain significance Single submitter
- NCSTN p.Leu18Val Uncertain significance Single submitter
-
NCSTN p.Leu212Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Leu260Ile Uncertain significance Single submitter
- NCSTN p.Leu370Ile Uncertain significance Single submitter
- NCSTN p.Leu374Ser Uncertain significance Single submitter
- NCSTN p.Leu397Phe Uncertain significance Single submitter
- NCSTN p.Leu413Phe Uncertain significance Single submitter
- NCSTN p.Leu526Val Uncertain significance Single submitter
- NCSTN p.Leu538Arg Uncertain significance Single submitter
- NCSTN p.Leu631Phe Uncertain significance Single submitter
- NCSTN p.Lys261Arg Uncertain significance Single submitter
- NCSTN p.Lys349Asn Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
-
NCSTN p.Ala497Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg105Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Arg323Cys
Uncertain significance
Multiple submitters
NCSTN-related disorder
-
NCSTN p.Asn417Tyr
Benign/Likely benign
Multiple submitters
acne inversa, familial, 1
-
NCSTN p.Ile656Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NCSTN p.Val123Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NCSTN p.Ala295Ser Uncertain significance Single submitter
-
NCSTN p.Ala630Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Ala664Val Uncertain significance Single submitter
- NCSTN p.Arg232Gln Uncertain significance Single submitter
- NCSTN p.Arg391Trp Uncertain significance Single submitter
- NCSTN p.Arg496His Uncertain significance Single submitter
-
NCSTN p.Arg520Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Arg652Leu Uncertain significance Single submitter
-
NCSTN p.Arg657Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Asp489Val Uncertain significance Single submitter
- NCSTN p.Cys31Tyr Uncertain significance Single submitter
- NCSTN p.Glu99Lys Uncertain significance Single submitter
- NCSTN p.Gly144Trp Uncertain significance Single submitter
- NCSTN p.Gly524Glu Uncertain significance Single submitter
-
NCSTN p.Ile40Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NCSTN p.Leu183Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Leu21Pro Uncertain significance Single submitter
- NCSTN p.Leu431Ile Uncertain significance Single submitter
- NCSTN p.Leu501Val Uncertain significance Single submitter
- NCSTN p.Phe134Leu Uncertain significance Single submitter
- NCSTN p.Phe156Cys Uncertain significance Single submitter
- NCSTN p.Phe288Leu Uncertain significance Single submitter
- NCSTN p.Ser472Cys Uncertain significance Single submitter
- NCSTN p.Thr104Ala Uncertain significance Single submitter
- NCSTN p.Thr239Pro Uncertain significance Single submitter
- NCSTN p.Thr459Ala Uncertain significance Single submitter
- NCSTN p.Tyr173His Uncertain significance Single submitter
-
NCSTN p.Tyr196His
Uncertain significance
Single submitter
Inborn genetic diseases
- NCSTN p.Val256Leu Uncertain significance Single submitter
- NCSTN p.Val696Gly Uncertain significance Single submitter
All NCSTN variants
Pathogenic 15
- c.1101_1101+17delinsTGTCCA Single submitter acne inversa, familial, 1
- p.Arg117Ter Single submitter acne inversa, familial, 1
- p.Arg432Ter Single submitter
- p.Arg434Ter Single submitter acne inversa, familial, 1
- p.Gln420Ter Single submitter
- p.Gly6fs Single submitter
- p.Leu251fs Single submitter
- p.Leu431fs Single submitter
- p.Ser373Ter Single submitter
- p.Tyr545Ter Single submitter Abnormality of the skin
- c.1101+1G>A No assertion criteria acne inversa, familial, 1
- c.1551+1G>A No assertion criteria acne inversa, familial, 1
- p.Arg429Ter No assertion criteria acne inversa, familial, 1
- p.Glu584fs No assertion criteria acne inversa, familial, 1
- p.Gly33Arg No assertion criteria acne inversa, familial, 1
Likely pathogenic 10
- c.1352+1G>C Single submitter
- c.436+1G>A Single submitter
- c.436+1G>C Single submitter
- c.996+1G>A Single submitter
- p.Gln454Ter Single submitter NCSTN-related disorder
- p.Gln552fs Single submitter acne inversa, familial, 1
- p.Gly339fs Single submitter NCSTN-related disorder
- p.Lys193fs Single submitter acne inversa, familial, 1
- p.Tyr94fs Single submitter acne inversa, familial, 1
- p.Val72fs Single submitter
Conflicting classifications of pathogenicity 8
- c.1102-10C>A Single submitter acne inversa, familial, 1
- c.314+3A>G Single submitter
- c.996+7G>A Single submitter acne inversa, familial, 1
- c.-11A>C Single submitter
- p.Ala315Val Single submitter acne inversa, familial, 1 ⚠
- p.Arg391Gln Single submitter Inborn genetic diseases ⚠
- p.Ser67Ile Single submitter Inborn genetic diseases ⚠
- p.Thr400Ile Single submitter Inborn genetic diseases ⚠
Benign 16
- p.Glu77Asp Multiple submitters
- p.Glu79= Multiple submitters
- p.Gly438= Multiple submitters
- p.Ser361= Multiple submitters
- p.Ser67= Multiple submitters
- c.1102-3del Single submitter
- c.1180-3del Single submitter
- c.1180-3dup Single submitter
- c.1353-4G>C Single submitter
- c.733+19A>T Single submitter
- p.Arg52= Single submitter
- p.Arg702Trp Single submitter
- p.Leu18= Single submitter
- p.Lys314= Single submitter
- p.Ser166= Single submitter
- p.Thr674= Single submitter
Benign/Likely benign 19
- c.1101+13T>C Multiple submitters acne inversa, familial, 1
- c.1102-3dup Multiple submitters
- c.1180-5C>G Multiple submitters
- c.1352+20_1352+26del Multiple submitters
- c.1551+20C>T Multiple submitters
- c.733+18C>G Multiple submitters
- c.734-5C>T Multiple submitters
- c.86-16T>C Multiple submitters
- p.Ala570= Multiple submitters
- p.Asn417Tyr Multiple submitters acne inversa, familial, 1 ⚠
- p.Asp175= Multiple submitters
- p.Asp249= Multiple submitters
- p.Asp509Asn Multiple submitters
- p.Gly5= Multiple submitters
- p.His74= Multiple submitters
- p.Leu212= Multiple submitters
- p.Pro353= Multiple submitters
- p.Thr70= Multiple submitters
- p.Val490= Multiple submitters
Likely benign 209
- c.1180-12C>T Multiple submitters
- c.1352+10A>G Multiple submitters
- c.1352+20G>C Multiple submitters
- c.1552-13G>C Multiple submitters
- c.436+15G>A Multiple submitters
- c.437-12C>G Multiple submitters acne inversa, familial, 1
- c.582+18T>C Multiple submitters
- c.733+13C>T Multiple submitters
- c.86-15T>C Multiple submitters
- p.Ala433= Multiple submitters
- p.Asn255= Multiple submitters
- p.Asn478= Multiple submitters
- p.Asp272= Multiple submitters
- p.Gln313= Multiple submitters
- p.Leu201= Multiple submitters
- p.Leu401= Multiple submitters
- p.Leu53= Multiple submitters
- p.Leu538= Multiple submitters
- p.Phe677= Multiple submitters Inborn genetic diseases
- p.Phe682= Multiple submitters
- p.Ser641= Multiple submitters
- p.Thr320= Multiple submitters
- p.Val36= Multiple submitters
- c.1101+17C>A Single submitter
- c.1101+8G>T Single submitter
- c.1102-10C>G Single submitter
- c.1102-14C>T Single submitter
- c.1102-16T>C Single submitter
- c.1102-17C>T Single submitter
- c.1102-19T>G Single submitter
- c.1102-4C>G Single submitter
- c.1102-5_1102-3del Single submitter
- c.1102-5C>G Single submitter
- c.1102-8C>G Single submitter
- c.1102-8C>T Single submitter
- c.1179+8G>A Single submitter
- c.1180-11G>A Single submitter
- c.1180-20A>T Single submitter
- c.1180-4C>A Single submitter
- c.1180-4C>G Single submitter
- c.1180-8C>A Single submitter
- c.1180-9A>G Single submitter
- c.1352+11C>T Single submitter
- c.1353-14G>A Single submitter
- c.1353-18T>C Single submitter
- c.1353-19A>T Single submitter
- c.1353-7C>T Single submitter
- c.1456-10C>T Single submitter
- c.1456-11A>G Single submitter
- c.1456-12C>T Single submitter
- c.1456-17C>A Single submitter
- c.1456-20C>T Single submitter
- c.1456-9C>T Single submitter
- c.1551+7A>C Single submitter
- c.1552-14T>C Single submitter
- c.1639+12G>A Single submitter
- c.1640-19C>A Single submitter
- c.1795-11C>G Single submitter
- c.1795-14C>T Single submitter
- c.1795-16C>T Single submitter
- c.1795-6del Single submitter
- c.190+12T>C Single submitter
- c.190+18C>A Single submitter
- c.190+20T>C Single submitter
- c.191-17T>A Single submitter
- c.191-18C>T Single submitter
- c.191-19A>G Single submitter
- c.2007+12dup Single submitter
- c.2007+15G>A Single submitter
- c.2007+17G>T Single submitter
- c.2007+19A>G Single submitter
- c.2008-13C>G Single submitter
- c.2008-18C>T Single submitter
- c.2008-6C>T Single submitter
- c.2008-7C>A Single submitter
- c.2008-7C>G Single submitter
- c.2008-7C>T Single submitter
- c.2008-8C>A Single submitter
- c.314+16A>G Single submitter
- c.314+7A>G Single submitter
- c.314+8C>A Single submitter
- c.315-14C>T Single submitter
- c.315-20G>A Single submitter
- c.436+12A>G Single submitter
- c.436+9C>T Single submitter
- c.437-14A>G Single submitter
- c.437-17C>T Single submitter
- c.437-18C>T Single submitter
- c.437-8C>G Single submitter
- c.582+10C>T Single submitter
- c.582+11T>C Single submitter
- c.582+8C>T Single submitter
- c.583-12C>T Single submitter
- c.583-14A>G Single submitter
- c.583-17T>C Single submitter
- c.583-19G>A Single submitter
- c.733+14G>T Single submitter
- c.734-11G>C Single submitter
- c.734-13G>C Single submitter
- c.734-15_734-12del Single submitter
- c.734-19T>C Single submitter
- c.843+17G>A Single submitter
- c.844-10T>C Single submitter
- c.844-15T>C Single submitter
- c.844-8G>T Single submitter
- c.85+14G>C Single submitter
- c.85+16C>A Single submitter
- c.85+17del Single submitter
- c.85+18G>A Single submitter
- c.85+18G>T Single submitter
- c.85+6_85+9dup Single submitter
- c.85+7C>T Single submitter
- c.86-127C>G Single submitter
- c.86-20A>G Single submitter
- c.86-6G>A Single submitter
- c.86-7C>T Single submitter
- c.996+10_996+17del Single submitter
- c.996+12T>G Single submitter
- c.996+13T>C Single submitter
- c.997-9A>G Single submitter
- c.-2dup Single submitter
- p.Ala157= Single submitter
- p.Ala228= Single submitter
- p.Ala298= Single submitter
- p.Ala491= Single submitter
- p.Ala502= Single submitter
- p.Ala625= Single submitter
- p.Ala658= Single submitter
- p.Arg15= Single submitter
- p.Arg232= Single submitter
- p.Arg281Gln Single submitter
- p.Arg32= Single submitter
- p.Arg619= Single submitter
- p.Arg629= Single submitter
- p.Asn243= Single submitter
- p.Asn417= Single submitter
- p.Asn450= Single submitter
- p.Asn55= Single submitter
- p.Asp185= Single submitter
- p.Asp548= Single submitter
- p.Gln428= Single submitter
- p.Gln639= Single submitter
- p.Glu364= Single submitter
- p.Glu402= Single submitter
- p.Glu461= Single submitter
- p.Glu601= Single submitter
- p.Gly113= Single submitter
- p.Gly133= Single submitter
- p.Gly144= Single submitter
- p.Gly16= Single submitter
- p.Gly29= Single submitter
- p.His444= Single submitter
- p.Ile246= Single submitter
- p.Ile555= Single submitter
- p.Ile656= Single submitter
- p.Ile681= Single submitter
- p.Ile685= Single submitter
- p.Leu21= Single submitter
- p.Leu27= Single submitter
- p.Leu374= Single submitter
- p.Leu397= Single submitter
- p.Leu521= Single submitter
- p.Leu581= Single submitter
- p.Leu599= Single submitter
- p.Leu680= Single submitter
- p.Leu97= Single submitter
- p.Lys349= Single submitter
- p.Lys39= Single submitter
- p.Lys597= Single submitter
- p.Lys693= Single submitter
- p.Phe210= Single submitter
- p.Phe287= Single submitter
- p.Pro208= Single submitter
- p.Pro293= Single submitter
- p.Pro416= Single submitter
- p.Pro43= Single submitter
- p.Pro468= Single submitter
- p.Pro49= Single submitter
- p.Ser124= Single submitter
- p.Ser14= Single submitter
- p.Ser238= Single submitter
- p.Ser297= Single submitter
- p.Ser340= Single submitter
- p.Ser341= Single submitter
- p.Ser373= Single submitter
- p.Ser508= Single submitter
- p.Ser603= Single submitter
- p.Ser646= Single submitter
- p.Thr126= Single submitter
- p.Thr266Ser Single submitter Inborn genetic diseases
- p.Thr492= Single submitter
- p.Thr505= Single submitter
- p.Thr577= Single submitter
- p.Thr614= Single submitter
- p.Thr647= Single submitter
- p.Tyr345= Single submitter
- p.Tyr457= Single submitter
- p.Tyr554= Single submitter
- p.Tyr565= Single submitter
- p.Tyr600= Single submitter
- p.Val138= Single submitter
- p.Val25= Single submitter
- p.Val439= Single submitter
- p.Val493= Single submitter
- p.Val675= Single submitter
- p.Val686= Single submitter
- p.Val76= Single submitter
- c.1102-5C>A No assertion criteria NCSTN-related disorder
- c.-6G>C No assertion criteria NCSTN-related disorder
Uncertain significance 279
- p.Ala207Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala298Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala484Thr Multiple submitters Inborn genetic diseases
- p.Ala48Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala497Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala664Gly Multiple submitters Inborn genetic diseases
- p.Ala664Thr Multiple submitters Inborn genetic diseases
- p.Arg105Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg117Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg19His Multiple submitters Inborn genetic diseases ⚠
- p.Arg232Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg323Cys Multiple submitters NCSTN-related disorder ⚠
- p.Arg432Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg520His Multiple submitters Inborn genetic diseases ⚠
- p.Arg583Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn169Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn34Lys Multiple submitters Inborn genetic diseases
- p.Asn580Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn596Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn691Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln203Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln305His Multiple submitters Inborn genetic diseases ⚠
- p.Glu357Asp Multiple submitters ⚠
- p.Glu357Gly Multiple submitters acne inversa, familial, 1 ⚠
- p.Glu469Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu601Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu77Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly29Val Multiple submitters ⚠
- p.Gly405Arg Multiple submitters Inborn genetic diseases ⚠
- p.His610Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ile263Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile656Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu617His Multiple submitters Inborn genetic diseases ⚠
- p.Met108Thr Multiple submitters Inborn genetic diseases
- p.Pro154Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro701Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser404Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser437Phe Multiple submitters Inborn genetic diseases
- p.Ser67Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr517Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr152Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr152His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr173Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr688Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val123Met Multiple submitters Inborn genetic diseases ⚠
- p.Val247Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val25Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val354Met Multiple submitters Inborn genetic diseases ⚠
- p.Val368Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val440Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val465Met Multiple submitters ⚠
- c.1102-3C>A Single submitter
- c.1102-3C>T Single submitter
- c.1179+59C>T Single submitter acne inversa, familial, 1
- c.1179+6C>G Single submitter acne inversa, familial, 1
- c.1179+6C>T Single submitter
- c.1180-3C>T Single submitter
- c.1456-3C>T Single submitter
- c.1639+6C>T Single submitter
- c.1640-3C>A Single submitter
- c.1794+11G>A Single submitter
- c.191-3C>T Single submitter
- c.191-7C>G Single submitter
- c.314+2_314+4dup Single submitter
- c.734-18T>C Single submitter
- c.85+6G>A Single submitter
- c.86-6G>T Single submitter
- c.997-5C>T Single submitter
- p.Ala122Thr Single submitter ⚠
- p.Ala131Val Single submitter ⚠
- p.Ala157Ser Single submitter ⚠
- p.Ala157Thr Single submitter Inborn genetic diseases ⚠
- p.Ala279Val Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala295Ser Single submitter ⚠
- p.Ala298Ser Single submitter ⚠
- p.Ala300Ser Single submitter ⚠
- p.Ala406Val Single submitter ⚠
- p.Ala410Val Single submitter ⚠
- p.Ala433Val Single submitter ⚠
- p.Ala447Val Single submitter ⚠
- p.Ala488= Single submitter
- p.Ala556Thr Single submitter ⚠
- p.Ala56Thr Single submitter
- p.Ala572Val Single submitter
- p.Ala630Val Single submitter Inborn genetic diseases ⚠
- p.Ala664Val Single submitter ⚠
- p.Ala694Thr Single submitter ⚠
- p.Arg15Gly Single submitter ⚠
- p.Arg19Cys Single submitter ⚠
- p.Arg19Leu Single submitter Inborn genetic diseases ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Arg285His Single submitter Inborn genetic diseases ⚠
- p.Arg323His Single submitter ⚠
- p.Arg32Met Single submitter ⚠
- p.Arg342Lys Single submitter
- p.Arg38Gly Single submitter ⚠
- p.Arg391= Single submitter
- p.Arg391Trp Single submitter ⚠
- p.Arg429Gln Single submitter ⚠
- p.Arg432Pro Single submitter Inborn genetic diseases ⚠
- p.Arg434Gln Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg520Cys Single submitter Inborn genetic diseases ⚠
- p.Arg52Cys Single submitter ⚠
- p.Arg539Gly Single submitter Inborn genetic diseases ⚠
- p.Arg539Ser Single submitter Inborn genetic diseases
- p.Arg616Gln Single submitter ⚠
- p.Arg619Gln Single submitter ⚠
- p.Arg619Leu Single submitter ⚠
- p.Arg619Trp Single submitter ⚠
- p.Arg626Gln Single submitter ⚠
- p.Arg652Leu Single submitter ⚠
- p.Arg657Cys Single submitter Inborn genetic diseases ⚠
- p.Arg657His Single submitter ⚠
- p.Arg659Trp Single submitter ⚠
- p.Arg702Gln Single submitter ⚠
- p.Asn150Tyr Single submitter ⚠
- p.Asn531Ser Single submitter ⚠
- p.Asn91Lys Single submitter ⚠
- p.Asp106Asn Single submitter ⚠
- p.Asp11His Single submitter Inborn genetic diseases ⚠
- p.Asp346Asn Single submitter ⚠
- p.Asp381His Single submitter ⚠
- p.Asp443His Single submitter ⚠
- p.Asp476Glu Single submitter ⚠
- p.Asp489Val Single submitter ⚠
- p.Asp548His Single submitter Inborn genetic diseases ⚠
- p.Asp655Glu Single submitter ⚠
- p.Cys140Gly Single submitter ⚠
- p.Cys31Tyr Single submitter ⚠
- p.Cys689Ser Single submitter ⚠
- p.Gln139Arg Single submitter Inborn genetic diseases ⚠
- p.Gln367Glu Single submitter ⚠
- p.Gln385His Single submitter
- p.Gln393Glu Single submitter Inborn genetic diseases ⚠
- p.Gln428Arg Single submitter ⚠
- p.Gln454Glu Single submitter Inborn genetic diseases ⚠
- p.Gln568Lys Single submitter ⚠
- p.Gln59His Single submitter ⚠
- p.Gln639Arg Single submitter ⚠
- p.Gln83Arg Single submitter ⚠
- p.Glu155Asp Single submitter ⚠
- p.Glu161Gln Single submitter ⚠
- p.Glu310Ala Single submitter Inborn genetic diseases ⚠
- p.Glu388Gly Single submitter ⚠
- p.Glu474_Thr481dup Single submitter
- p.Glu80Asp Single submitter ⚠
- p.Glu99Gly Single submitter ⚠
- p.Glu99Lys Single submitter ⚠
- p.Gly133Asp Single submitter ⚠
- p.Gly144Glu Single submitter Inborn genetic diseases
- p.Gly144Trp Single submitter ⚠
- p.Gly146Arg Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly294Glu Single submitter ⚠
- p.Gly29Asp Single submitter ⚠
- p.Gly33Val Single submitter ⚠
- p.Gly366Arg Single submitter Inborn genetic diseases ⚠
- p.Gly407Ala Single submitter Inborn genetic diseases ⚠
- p.Gly504Glu Single submitter ⚠
- p.Gly524Glu Single submitter ⚠
- p.Gly549Arg Single submitter ⚠
- p.Gly5Glu Single submitter ⚠
- p.Gly5Val Single submitter ⚠
- p.Gly678Ala Single submitter ⚠
- p.Gly6Val Single submitter ⚠
- p.Gly7= Single submitter
- p.Gly9Ala Single submitter ⚠
- p.Gly9Glu Single submitter ⚠
- p.Gly9Val Single submitter ⚠
- p.His444Arg Single submitter Inborn genetic diseases ⚠
- p.His58Arg Single submitter ⚠
- p.His74Gln Single submitter ⚠
- p.Ile162Met Single submitter Inborn genetic diseases ⚠
- p.Ile180Val Single submitter ⚠
- p.Ile192Val Single submitter ⚠
- p.Ile242Val Single submitter Inborn genetic diseases ⚠
- p.Ile338Val Single submitter Inborn genetic diseases
- p.Ile40Leu Single submitter Inborn genetic diseases ⚠
- p.Ile42Val Single submitter ⚠
- p.Ile463Val Single submitter ⚠
- p.Ile537Val Single submitter ⚠
- p.Ile555Val Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Ile671Phe Single submitter Inborn genetic diseases ⚠
- p.Ile685Val Single submitter ⚠
- p.Ile699Leu Single submitter ⚠
- p.Ile699Val Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Leu183Phe Single submitter Inborn genetic diseases ⚠
- p.Leu18Val Single submitter ⚠
- p.Leu212Pro Single submitter Inborn genetic diseases ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu260Ile Single submitter ⚠
- p.Leu370Ile Single submitter ⚠
- p.Leu374Ser Single submitter ⚠
- p.Leu397Phe Single submitter ⚠
- p.Leu413Phe Single submitter ⚠
- p.Leu431Ile Single submitter ⚠
- p.Leu501Val Single submitter ⚠
- p.Leu526Val Single submitter ⚠
- p.Leu538Arg Single submitter ⚠
- p.Leu631Phe Single submitter ⚠
- p.Leu670= Single submitter
- p.Lys261Arg Single submitter ⚠
- p.Lys349Asn Single submitter ⚠
- p.Lys386Glu Single submitter ⚠
- p.Lys39_Ile42del Single submitter
- p.Lys403Thr Single submitter ⚠
- p.Lys46Glu Single submitter ⚠
- p.Lys591Arg Single submitter ⚠
- p.Met215Ile Single submitter
- p.Met326Thr Single submitter ⚠
- p.Met326Val Single submitter ⚠
- p.Met347Ile Single submitter ⚠
- p.Met95Ile Single submitter ⚠
- p.Met95Val Single submitter ⚠
- p.Phe134Leu Single submitter ⚠
- p.Phe156Cys Single submitter ⚠
- p.Phe288Leu Single submitter ⚠
- p.Phe430Leu Single submitter Inborn genetic diseases ⚠
- p.Phe430Tyr Single submitter ⚠
- p.Phe525Ser Single submitter ⚠
- p.Pro382Ala Single submitter ⚠
- p.Pro382His Single submitter ⚠
- p.Pro409Ala Single submitter ⚠
- p.Pro416Arg Single submitter Inborn genetic diseases ⚠
- p.Pro423Leu Single submitter ⚠
- p.Pro424Thr Single submitter Inborn genetic diseases ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro49Ser Single submitter ⚠
- p.Pro593Ser Single submitter ⚠
- p.Pro701Ala Single submitter ⚠
- p.Pro93Ala Single submitter
- p.Ser14Gly Single submitter ⚠
- p.Ser166Leu Single submitter ⚠
- p.Ser235Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser361Ala Single submitter ⚠
- p.Ser361Leu Single submitter ⚠
- p.Ser425Tyr Single submitter ⚠
- p.Ser472Cys Single submitter ⚠
- p.Ser558Phe Single submitter Inborn genetic diseases ⚠
- p.Ser8Phe Single submitter ⚠
- p.Thr104Ala Single submitter ⚠
- p.Thr126Ile Single submitter Inborn genetic diseases ⚠
- p.Thr239Pro Single submitter ⚠
- p.Thr320Asn Single submitter ⚠
- p.Thr459Ala Single submitter ⚠
- p.Thr505Ala Single submitter ⚠
- p.Thr510Ala Single submitter ⚠
- p.Thr561Ala Single submitter Inborn genetic diseases ⚠
- p.Thr582Ile Single submitter Inborn genetic diseases
- p.Thr614Met Single submitter ⚠
- p.Thr624Ala Single submitter ⚠
- p.Thr87Ala Single submitter ⚠
- p.Trp377Cys Single submitter ⚠
- p.Trp470Cys Single submitter ⚠
- p.Tyr173His Single submitter ⚠
- p.Tyr196His Single submitter Inborn genetic diseases ⚠
- p.Tyr337= Single submitter
- p.Tyr41His Single submitter Inborn genetic diseases ⚠
- p.Tyr523Cys Single submitter ⚠
- p.Val224Ile Single submitter ⚠
- p.Val256Leu Single submitter ⚠
- p.Val276Leu Single submitter
- p.Val328Ala Single submitter ⚠
- p.Val439Ile Single submitter ⚠
- p.Val566Phe Single submitter ⚠
- p.Val605Leu Single submitter
- p.Val686Ile Single submitter ⚠
- p.Val696Gly Single submitter ⚠
- p.Val72Ile Single submitter ⚠
- p.Val72Phe Single submitter ⚠
- p.Val75Ile Single submitter ⚠
- p.Val75Leu Single submitter ⚠
- p.Thr115fs No assertion criteria