NANS — 192 ClinVar variants
All ClinVar germline NANS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
6 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 5 Conflicting · 12 Benign · 5 Benign/Likely benign · 66 Likely benign · 85 Uncertain significance
Full NANS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NANS p.Arg151Leu
Conflicting
Single submitter
Inborn genetic diseases
-
NANS p.Arg237Cys
Conflicting
Single submitter
spondyloepimetaphyseal dysplasia, Genevieve type
- NANS p.Glu103Lys Conflicting Single submitter
Predictors lean, ClinVar uncertain 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NANS p.Arg264Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Gln94Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Lys358Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Lys61Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Ser201Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Thr277Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Val127Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Val132Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Val199Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NANS p.Val35Ala Uncertain significance Multiple submitters
- NANS p.Ala187Thr Uncertain significance Single submitter
- NANS p.Ala222Thr Uncertain significance Single submitter
-
NANS p.Ala260Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NANS p.Arg198Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NANS p.Arg271His
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Arg64Gln Uncertain significance Single submitter
- NANS p.Asp115Val Uncertain significance Single submitter
- NANS p.Asp93Ala Uncertain significance Single submitter
-
NANS p.Cys283Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Cys46Tyr Uncertain significance Single submitter
- NANS p.Gln170Arg Uncertain significance Single submitter
-
NANS p.Gln279Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Glu24Lys Uncertain significance Single submitter
- NANS p.Gly213Glu Uncertain significance Single submitter
- NANS p.Gly82Arg Uncertain significance Single submitter
- NANS p.His17Gln Uncertain significance Single submitter
- NANS p.Ile155Thr Uncertain significance Single submitter
-
NANS p.Ile171Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Ile223Val Uncertain significance Single submitter
- NANS p.Ile357Thr Uncertain significance Single submitter
- NANS p.Leu98Pro Uncertain significance Single submitter
-
NANS p.Met153Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Met162Val Uncertain significance Single submitter
- NANS p.Phe179Val Uncertain significance Single submitter
-
NANS p.Pro324Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NANS p.Ser156Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Ser251Leu Uncertain significance Single submitter
- NANS p.Ser251Pro Uncertain significance Single submitter
- NANS p.Ser253Leu Uncertain significance Single submitter
-
NANS p.Thr313Ala
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Genevieve type
-
NANS p.Tyr142Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Tyr71His Uncertain significance Single submitter
-
NANS p.Tyr81Phe
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Genevieve type
- NANS p.Val105Ala Uncertain significance Single submitter
-
NANS p.Val168Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Val195Ile Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
-
NANS p.Ala102Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Arg151His
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia, Genevieve type
-
NANS p.Ile301Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NANS p.Pro174Ser Benign/Likely benign Multiple submitters
-
NANS p.Pro18Ala
Uncertain significance
Multiple submitters
spondyloepimetaphyseal dysplasia, Genevieve type
-
NANS p.Ser224Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NANS p.Val119Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NANS p.Val296Leu Uncertain significance Multiple submitters
-
NANS p.Val314Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NANS p.Ala147Gly Uncertain significance Single submitter
- NANS p.Ala252Val Uncertain significance Single submitter
- NANS p.Arg151Cys Uncertain significance Single submitter
-
NANS p.Arg198Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Arg264Trp Uncertain significance Single submitter
-
NANS p.Arg271Cys
Conflicting
Single submitter
Inborn genetic diseases
- NANS p.Arg64Trp Uncertain significance Single submitter
-
NANS p.Arg69Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Asn176Lys Uncertain significance Single submitter
- NANS p.Asp93Asn Uncertain significance Single submitter
- NANS p.Ile212Thr Uncertain significance Single submitter
-
NANS p.Ile223Thr
Uncertain significance
Single submitter
spondyloepimetaphyseal dysplasia, Genevieve type
- NANS p.Leu268Pro Uncertain significance Single submitter
-
NANS p.Leu312Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NANS p.Leu336Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Leu336Pro Uncertain significance Single submitter
- NANS p.Pro208Ala Uncertain significance Single submitter
- NANS p.Pro302Leu Uncertain significance Single submitter
- NANS p.Ser73Trp Uncertain significance Single submitter
- NANS p.Thr137Ile Uncertain significance Single submitter
-
NANS p.Val154Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NANS p.Val234Met Likely benign Single submitter
-
NANS p.Val316Met
Uncertain significance
Single submitter
Inborn genetic diseases
All NANS variants
Pathogenic 6
- p.Arg86Ter Single submitter
- p.Gly31fs Single submitter
- p.Thr219fs Single submitter
- c.133-12T>A No assertion criteria spondyloepimetaphyseal dysplasia, Genevieve type
- p.Gly133Val No assertion criteria spondyloepimetaphyseal dysplasia, Genevieve type
- p.Lys131fs No assertion criteria spondyloepimetaphyseal dysplasia, Genevieve type
Pathogenic/Likely pathogenic 3
- c.448+1G>A Multiple submitters spondyloepimetaphyseal dysplasia, Genevieve type
- p.Glu258Ter Multiple submitters spondyloepimetaphyseal dysplasia, Genevieve type
- p.Tyr188His No assertion criteria spondyloepimetaphyseal dysplasia, Genevieve type
Likely pathogenic 10
- c.349-2A>G Single submitter
- c.449-10_449-5delinsATGG Single submitter spondyloepimetaphyseal dysplasia, Genevieve type
- c.870+5G>A Single submitter NANS-related disorders
- p.Ala147Asp Single submitter NANS-related disorders
- p.Leu67Ser Single submitter
- p.Met1Val Single submitter spondyloepimetaphyseal dysplasia, Genevieve type
- p.Trp245Ter Single submitter spondyloepimetaphyseal dysplasia, Genevieve type
- p.Arg69fs No assertion criteria spondyloepimetaphyseal dysplasia, Genevieve type
- p.Met159Arg No assertion criteria spondyloepimetaphyseal dysplasia, Genevieve type
- p.Tyr203His No assertion criteria spondyloepimetaphyseal dysplasia, Genevieve type
Conflicting classifications of pathogenicity 5
- c.133-5del Single submitter spondyloepimetaphyseal dysplasia, Genevieve type
- p.Arg151Leu Single submitter Inborn genetic diseases ⚠
- p.Arg237Cys Single submitter spondyloepimetaphyseal dysplasia, Genevieve type ⚠
- p.Arg271Cys Single submitter Inborn genetic diseases ⚠
- p.Glu103Lys Single submitter ⚠
Benign 12
- c.133-124G>A Multiple submitters
- c.348+81C>A Multiple submitters
- c.870+296C>A Multiple submitters
- c.870+4T>C Multiple submitters
- c.870+53A>G Multiple submitters
- p.Ala51= Multiple submitters spondyloepimetaphyseal dysplasia, Genevieve type
- p.Asp34= Multiple submitters spondyloepimetaphyseal dysplasia, Genevieve type
- p.Glu68Asp Multiple submitters
- c.133-224T>A Single submitter
- c.603+19dup Single submitter
- c.870+7C>G Single submitter
- c.871-121A>G Single submitter
Benign/Likely benign 5
- p.Leu349= Multiple submitters
- p.Met117Ile Multiple submitters
- p.Pro174Ser Multiple submitters ⚠
- p.Ser248= Multiple submitters
- p.Val228= Multiple submitters
Likely benign 66
- c.449-9A>C Multiple submitters
- c.603+15G>A Multiple submitters
- p.Gly257= Multiple submitters
- p.Leu268= Multiple submitters
- p.Pro18Leu Multiple submitters
- c.132+17dup Single submitter
- c.132+20G>A Single submitter
- c.133-11G>A Single submitter
- c.133-13dup Single submitter
- c.133-17C>T Single submitter
- c.348+17T>A Single submitter
- c.348+17T>C Single submitter
- c.348+18C>T Single submitter
- c.348+7C>T Single submitter
- c.349-11G>A Single submitter
- c.349-9T>C Single submitter
- c.448+17T>A Single submitter
- c.449-6A>G Single submitter
- c.603+12G>T Single submitter
- c.870+12C>T Single submitter
- c.870+13G>A Single submitter
- c.870+16C>T Single submitter
- c.870+8C>T Single submitter
- c.871-4A>G Single submitter
- p.Ala102= Single submitter
- p.Ala111= Single submitter
- p.Ala118= Single submitter
- p.Ala222= Single submitter
- p.Ala226= Single submitter
- p.Ala229= Single submitter
- p.Arg151= Single submitter
- p.Arg264= Single submitter
- p.Asn352= Single submitter
- p.Asp194= Single submitter
- p.Asp326= Single submitter
- p.Asp343= Single submitter
- p.Asp49= Single submitter
- p.Glu89= Single submitter
- p.Gly274= Single submitter
- p.Gly321= Single submitter
- p.Ile107= Single submitter
- p.Ile345= Single submitter
- p.Leu122= Single submitter
- p.Leu125= Single submitter
- p.Leu143= Single submitter
- p.Leu241= Single submitter
- p.Lys293= Single submitter
- p.Lys355= Single submitter
- p.Phe109= Single submitter
- p.Pro141= Single submitter
- p.Pro189= Single submitter
- p.Pro192= Single submitter
- p.Pro302= Single submitter
- p.Ser186= Single submitter
- p.Ser251= Single submitter
- p.Ser253= Single submitter
- p.Ser73= Single submitter
- p.Ser91= Single submitter
- p.Thr164= Single submitter
- p.Thr338= Single submitter
- p.Thr80= Single submitter
- p.Tyr101= Single submitter
- p.Tyr188= Single submitter
- p.Tyr81= Single submitter
- p.Val234Met Single submitter ⚠
- p.Thr308= No assertion criteria NANS-related disorder
Uncertain significance 85
- p.Ala102Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg151His Multiple submitters spondyloepimetaphyseal dysplasia, Genevieve type ⚠
- p.Arg264Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg267His Multiple submitters Inborn genetic diseases
- p.Gln94Glu Multiple submitters Inborn genetic diseases ⚠
- p.Ile301Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys358Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys61Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro18Ala Multiple submitters spondyloepimetaphyseal dysplasia, Genevieve type ⚠
- p.Ser201Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser224Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr277Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr80Met Multiple submitters Inborn genetic diseases
- p.Val119Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val127Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val132Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val199Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val296Leu Multiple submitters ⚠
- p.Val314Met Multiple submitters Inborn genetic diseases ⚠
- p.Val35Ala Multiple submitters ⚠
- c.133-5T>G Single submitter
- c.870+3G>A Single submitter
- p.Ala147Gly Single submitter ⚠
- p.Ala187Thr Single submitter ⚠
- p.Ala222Thr Single submitter ⚠
- p.Ala227Gly Single submitter Inborn genetic diseases
- p.Ala252Val Single submitter ⚠
- p.Ala260Thr Single submitter Inborn genetic diseases ⚠
- p.Arg11Leu Single submitter
- p.Arg151Cys Single submitter ⚠
- p.Arg198Gln Single submitter Inborn genetic diseases ⚠
- p.Arg198Trp Single submitter Inborn genetic diseases ⚠
- p.Arg264Trp Single submitter ⚠
- p.Arg271His Single submitter Inborn genetic diseases ⚠
- p.Arg64Gln Single submitter ⚠
- p.Arg64Trp Single submitter ⚠
- p.Arg69Ser Single submitter Inborn genetic diseases ⚠
- p.Asn176Lys Single submitter ⚠
- p.Asp115Val Single submitter ⚠
- p.Asp32Ala Single submitter Inborn genetic diseases
- p.Asp93Ala Single submitter ⚠
- p.Asp93Asn Single submitter ⚠
- p.Cys283Arg Single submitter Inborn genetic diseases ⚠
- p.Cys46Tyr Single submitter ⚠
- p.Gln170Arg Single submitter ⚠
- p.Gln279Leu Single submitter Inborn genetic diseases ⚠
- p.Glu24Lys Single submitter ⚠
- p.Gly213Glu Single submitter ⚠
- p.Gly82Arg Single submitter ⚠
- p.His17Gln Single submitter ⚠
- p.Ile155Thr Single submitter ⚠
- p.Ile171Val Single submitter Inborn genetic diseases ⚠
- p.Ile212Thr Single submitter ⚠
- p.Ile223Thr Single submitter spondyloepimetaphyseal dysplasia, Genevieve type ⚠
- p.Ile223Val Single submitter ⚠
- p.Ile327dup Single submitter spondyloepimetaphyseal dysplasia, Genevieve type
- p.Ile357fs Single submitter
- p.Ile357Thr Single submitter ⚠
- p.Leu268Pro Single submitter ⚠
- p.Leu312Phe Single submitter Inborn genetic diseases ⚠
- p.Leu336Gln Single submitter Inborn genetic diseases ⚠
- p.Leu336Pro Single submitter ⚠
- p.Leu33Arg Single submitter Inborn genetic diseases
- p.Leu98Pro Single submitter ⚠
- p.Met153Val Single submitter Inborn genetic diseases ⚠
- p.Met162Val Single submitter ⚠
- p.Phe179Val Single submitter ⚠
- p.Pro208Ala Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro324Ser Single submitter Inborn genetic diseases ⚠
- p.Ser156Cys Single submitter Inborn genetic diseases ⚠
- p.Ser251Leu Single submitter ⚠
- p.Ser251Pro Single submitter ⚠
- p.Ser253Leu Single submitter ⚠
- p.Ser73Trp Single submitter ⚠
- p.Thr137Ile Single submitter ⚠
- p.Thr313Ala Single submitter spondyloepimetaphyseal dysplasia, Genevieve type ⚠
- p.Tyr142Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr71His Single submitter ⚠
- p.Tyr81Phe Single submitter spondyloepimetaphyseal dysplasia, Genevieve type ⚠
- p.Val105Ala Single submitter ⚠
- p.Val154Met Single submitter Inborn genetic diseases ⚠
- p.Val168Ala Single submitter Inborn genetic diseases ⚠
- p.Val195Ile Single submitter ⚠
- p.Val316Met Single submitter Inborn genetic diseases ⚠