NSMCE3 — 181 ClinVar variants
All ClinVar germline NSMCE3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Benign · 92 Likely benign · 82 Uncertain significance
Full NSMCE3 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 lean, ClinVar uncertain 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NSMCE3 p.Glu45Gln Uncertain significance Multiple submitters
-
NSMCE3 p.Ile193Val
Uncertain significance
Multiple submitters
lung disease, immunodeficiency, and chromosome breakage syndrome;
- NSMCE3 p.Pro65Leu Uncertain significance Multiple submitters
-
NSMCE3 p.Thr196Ala
Uncertain significance
Multiple submitters
lung disease, immunodeficiency, and chromosome breakage syndrome;
- NSMCE3 p.Ala165Val Uncertain significance Single submitter
- NSMCE3 p.Ala280Ser Uncertain significance Single submitter
- NSMCE3 p.Ala280Val Uncertain significance Single submitter
- NSMCE3 p.Ala36Gly Uncertain significance Single submitter
- NSMCE3 p.Ala36Val Uncertain significance Single submitter
- NSMCE3 p.Ala44Val Uncertain significance Single submitter
- NSMCE3 p.Ala71Gly Uncertain significance Single submitter
- NSMCE3 p.Ala76Thr Uncertain significance Single submitter
- NSMCE3 p.Asp164Asn Uncertain significance Single submitter
- NSMCE3 p.Asp20Gly Uncertain significance Single submitter
- NSMCE3 p.Gln14His Uncertain significance Single submitter
- NSMCE3 p.Gln3Pro Uncertain significance Single submitter
- NSMCE3 p.Gln84Arg Uncertain significance Single submitter
- NSMCE3 p.Gly13Ser Uncertain significance Single submitter
- NSMCE3 p.Gly42Arg Uncertain significance Single submitter
- NSMCE3 p.Gly78Arg Uncertain significance Single submitter
- NSMCE3 p.Gly9Ala Uncertain significance Single submitter
- NSMCE3 p.Ile98Met Uncertain significance Single submitter
- NSMCE3 p.Leu202Met Uncertain significance Single submitter
- NSMCE3 p.Leu87Met Uncertain significance Single submitter
- NSMCE3 p.Lys128Arg Uncertain significance Single submitter
- NSMCE3 p.Lys212Arg Uncertain significance Single submitter
- NSMCE3 p.Met167Lys Uncertain significance Single submitter
- NSMCE3 p.Phe127Leu Uncertain significance Single submitter
- NSMCE3 p.Phe138Leu Uncertain significance Single submitter
- NSMCE3 p.Pro174His Uncertain significance Single submitter
- NSMCE3 p.Pro297Ser Uncertain significance Single submitter
- NSMCE3 p.Pro300Ser Uncertain significance Single submitter
- NSMCE3 p.Pro63Ala Uncertain significance Single submitter
- NSMCE3 p.Pro79Leu Uncertain significance Single submitter
- NSMCE3 p.Thr254Ser Uncertain significance Single submitter
- NSMCE3 p.Tyr282Cys Uncertain significance Single submitter
- NSMCE3 p.Val182Ile Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
- NSMCE3 p.Ala15Val Benign Multiple submitters
-
NSMCE3 p.Ala293Thr
Uncertain significance
Multiple submitters
lung disease, immunodeficiency, and chromosome breakage syndrome;
- NSMCE3 p.Asn255Ile Benign Multiple submitters
-
NSMCE3 p.Leu264Phe
Pathogenic/Likely pathogenic
Multiple submitters
lung disease, immunodeficiency, and chromosome breakage syndrome;
- NSMCE3 p.Ala301Val Uncertain significance Single submitter
- NSMCE3 p.Ala74Val Uncertain significance Single submitter
- NSMCE3 p.Arg133Gly Uncertain significance Single submitter
- NSMCE3 p.Arg133Ser Uncertain significance Single submitter
- NSMCE3 p.Arg294Lys Uncertain significance Single submitter
- NSMCE3 p.Arg40Thr Uncertain significance Single submitter
- NSMCE3 p.Arg52Cys Uncertain significance Single submitter
- NSMCE3 p.Arg80Ser Uncertain significance Single submitter
- NSMCE3 p.Asn191Ser Likely benign Single submitter
- NSMCE3 p.Asn272Asp Uncertain significance Single submitter
- NSMCE3 p.Asp100Asn Uncertain significance Single submitter
- NSMCE3 p.Asp125Asn Uncertain significance Single submitter
- NSMCE3 p.Asp200Gly Uncertain significance Single submitter
- NSMCE3 p.Asp218Gly Uncertain significance Single submitter
- NSMCE3 p.Glu146Gln Uncertain significance Single submitter
- NSMCE3 p.Glu195Asp Uncertain significance Single submitter
- NSMCE3 p.Glu284Gln Uncertain significance Single submitter
- NSMCE3 p.Glu45Lys Uncertain significance Single submitter
- NSMCE3 p.Gly172Asp Uncertain significance Single submitter
- NSMCE3 p.Gly42Cys Uncertain significance Single submitter
- NSMCE3 p.Ile111Val Uncertain significance Single submitter
- NSMCE3 p.Ile153Val Uncertain significance Single submitter
- NSMCE3 p.Ile186Val Uncertain significance Single submitter
- NSMCE3 p.Lys102Glu Likely benign Single submitter
- NSMCE3 p.Lys103Arg Uncertain significance Single submitter
- NSMCE3 p.Lys220Glu Uncertain significance Single submitter
- NSMCE3 p.Lys276Glu Uncertain significance Single submitter
- NSMCE3 p.Pro124Arg Uncertain significance Single submitter
- NSMCE3 p.Pro124Ser Uncertain significance Single submitter
-
NSMCE3 p.Pro209Leu
Pathogenic
Single submitter
Lung damage, immunodeficiency and chromosome breakage syndrome
- NSMCE3 p.Pro239Leu Uncertain significance Single submitter
- NSMCE3 p.Pro48Arg Uncertain significance Single submitter
- NSMCE3 p.Ser11Cys Uncertain significance Single submitter
- NSMCE3 p.Ser49Arg Uncertain significance Single submitter
- NSMCE3 p.Ser64Leu Uncertain significance Single submitter
- NSMCE3 p.Thr192Asn Uncertain significance Single submitter
- NSMCE3 p.Tyr208Cys Uncertain significance Single submitter
- NSMCE3 p.Tyr246Cys Uncertain significance Single submitter
- NSMCE3 p.Val244Ile Uncertain significance Single submitter
- NSMCE3 p.Val89Ala Uncertain significance Single submitter
All NSMCE3 variants
Pathogenic 1
- p.Pro209Leu Single submitter Lung damage, immunodeficiency and chromosome breakage syndrome ⚠
Pathogenic/Likely pathogenic 1
- p.Leu264Phe Multiple submitters lung disease, immunodeficiency, and chromosome breakage syndrome; ⚠
Benign 5
- p.Ala15Val Multiple submitters ⚠
- p.Asn255Ile Multiple submitters ⚠
- p.Gly33= Multiple submitters
- p.Ser24Gly Multiple submitters
- p.Val207Ile Multiple submitters
Likely benign 92
- p.Ala130= Single submitter
- p.Ala15= Single submitter
- p.Ala165= Single submitter
- p.Ala280= Single submitter
- p.Ala287= Single submitter
- p.Ala32= Single submitter
- p.Ala36= Single submitter
- p.Ala44= Single submitter
- p.Ala68= Single submitter
- p.Ala73= Single submitter
- p.Ala76= Single submitter
- p.Arg133= Single submitter
- p.Arg168= Single submitter
- p.Arg17= Single submitter
- p.Arg17= Single submitter
- p.Arg204= Single submitter
- p.Arg253= Single submitter
- p.Arg292= Single submitter
- p.Arg31= Single submitter
- p.Arg6= Single submitter
- p.Arg69= Single submitter
- p.Asn156= Single submitter
- p.Asn191Ser Single submitter ⚠
- p.Asn26= Single submitter
- p.Asp100= Single submitter
- p.Asp121= Single submitter
- p.Asp35= Single submitter
- p.Gln296= Single submitter
- p.Gln3= Single submitter
- p.Gln61= Single submitter
- p.Gln82= Single submitter
- p.Glu144= Single submitter
- p.Glu247= Single submitter
- p.Glu284= Single submitter
- p.Glu34= Single submitter
- p.Gly12= Single submitter
- p.Gly13= Single submitter
- p.Gly139= Single submitter
- p.Gly190= Single submitter
- p.Gly25= Single submitter
- p.Gly42= Single submitter
- p.Gly59= Single submitter
- p.Gly62= Single submitter
- p.Gly67= Single submitter
- p.His213= Single submitter
- p.His23= Single submitter
- p.Ile111= Single submitter
- p.Ile116= Single submitter
- p.Ile153= Single submitter
- p.Ile181= Single submitter
- p.Leu112= Single submitter
- p.Leu158= Single submitter
- p.Leu202= Single submitter
- p.Leu233= Single submitter
- p.Leu39= Single submitter
- p.Lys102Glu Single submitter ⚠
- p.Lys103= Single submitter
- p.Lys113= Single submitter
- p.Lys120= Single submitter
- p.Lys120Arg Single submitter
- p.Lys260= Single submitter
- p.Lys83= Single submitter
- p.Phe123= Single submitter
- p.Phe216= Single submitter
- p.Phe227= Single submitter
- p.Phe95= Single submitter
- p.Pro105= Single submitter
- p.Pro243= Single submitter
- p.Pro27= Single submitter
- p.Pro279= Single submitter
- p.Pro54= Single submitter
- p.Pro63= Single submitter
- p.Pro79= Single submitter
- p.Ser11= Single submitter
- p.Ser22= Single submitter
- p.Ser24= Single submitter
- p.Ser51= Single submitter
- p.Ser57= Single submitter
- p.Ser60= Single submitter
- p.Ser81= Single submitter
- p.Ser90= Single submitter
- p.Thr157= Single submitter
- p.Thr175Ile Single submitter
- p.Thr241= Single submitter
- p.Tyr136= Single submitter
- p.Tyr152= Single submitter
- p.Tyr232= Single submitter
- p.Tyr246= Single submitter
- p.Tyr282= Single submitter
- p.Val182= Single submitter
- p.Val207= Single submitter
- p.Val270= Single submitter
Uncertain significance 82
- p.Ala293Thr Multiple submitters lung disease, immunodeficiency, and chromosome breakage syndrome; ⚠
- p.Gln14Pro Multiple submitters lung disease, immunodeficiency, and chromosome breakage syndrome;
- p.Glu45Gln Multiple submitters ⚠
- p.Ile193Val Multiple submitters lung disease, immunodeficiency, and chromosome breakage syndrome; ⚠
- p.Pro65Leu Multiple submitters ⚠
- p.Thr196Ala Multiple submitters lung disease, immunodeficiency, and chromosome breakage syndrome; ⚠
- p.Ala165Val Single submitter ⚠
- p.Ala280Ser Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala285fs Single submitter
- p.Ala301Val Single submitter ⚠
- p.Ala36Gly Single submitter ⚠
- p.Ala36Val Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala71Gly Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Arg133Gly Single submitter ⚠
- p.Arg133Ser Single submitter ⚠
- p.Arg168fs Single submitter
- p.Arg294Lys Single submitter ⚠
- p.Arg40Thr Single submitter ⚠
- p.Arg52Cys Single submitter ⚠
- p.Arg80Ser Single submitter ⚠
- p.Asn272Asp Single submitter ⚠
- p.Asp100Asn Single submitter ⚠
- p.Asp125Asn Single submitter ⚠
- p.Asp164Asn Single submitter ⚠
- p.Asp200Gly Single submitter ⚠
- p.Asp20Gly Single submitter ⚠
- p.Asp218Gly Single submitter ⚠
- p.Gln14His Single submitter ⚠
- p.Gln3Pro Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Glu146Gln Single submitter ⚠
- p.Glu195Asp Single submitter ⚠
- p.Glu284Gln Single submitter ⚠
- p.Glu290del Single submitter
- p.Glu45Lys Single submitter ⚠
- p.Gly13Ser Single submitter ⚠
- p.Gly172Asp Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.Gly42Cys Single submitter ⚠
- p.Gly62_Pro63insSerGlnGly Single submitter
- p.Gly78Arg Single submitter ⚠
- p.Gly9Ala Single submitter ⚠
- p.Ile111Val Single submitter ⚠
- p.Ile153Val Single submitter ⚠
- p.Ile186Val Single submitter ⚠
- p.Ile98Met Single submitter ⚠
- p.Leu202Met Single submitter ⚠
- p.Leu87Met Single submitter ⚠
- p.Lys103Arg Single submitter ⚠
- p.Lys128Arg Single submitter ⚠
- p.Lys212Arg Single submitter ⚠
- p.Lys220Glu Single submitter ⚠
- p.Lys276Glu Single submitter ⚠
- p.Met167Lys Single submitter ⚠
- p.Phe127Leu Single submitter ⚠
- p.Phe138Leu Single submitter ⚠
- p.Pro124Arg Single submitter ⚠
- p.Pro124Ser Single submitter ⚠
- p.Pro174His Single submitter ⚠
- p.Pro239Leu Single submitter ⚠
- p.Pro297Ser Single submitter ⚠
- p.Pro300Ser Single submitter ⚠
- p.Pro48Arg Single submitter ⚠
- p.Pro63Ala Single submitter ⚠
- p.Pro79Leu Single submitter ⚠
- p.Ser11Cys Single submitter ⚠
- p.Ser49Arg Single submitter ⚠
- p.Ser49fs Single submitter
- p.Ser64Leu Single submitter ⚠
- p.Thr192Asn Single submitter ⚠
- p.Thr254Ser Single submitter ⚠
- p.Tyr152Ter Single submitter
- p.Tyr208Cys Single submitter ⚠
- p.Tyr246Cys Single submitter ⚠
- p.Tyr282Cys Single submitter ⚠
- p.Val182Ile Single submitter ⚠
- p.Val244Ile Single submitter ⚠
- p.Val89Ala Single submitter ⚠