MNS1 — 86 ClinVar variants
All ClinVar germline MNS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 3 Benign · 7 Likely benign · 67 Uncertain significance
Full MNS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MNS1 p.Ala156Val Uncertain significance Single submitter
- MNS1 p.Ala253Ser Uncertain significance Single submitter
- MNS1 p.Ala253Thr Uncertain significance Single submitter
- MNS1 p.Arg180Gln Uncertain significance Single submitter
- MNS1 p.Arg260Cys Uncertain significance Single submitter
- MNS1 p.Arg313His Uncertain significance Single submitter
-
MNS1 p.Arg388Gln
Uncertain significance
Single submitter
heterotaxy, visceral, 9, autosomal, with male infertility
- MNS1 p.Arg448Ser Uncertain significance Single submitter
- MNS1 p.Asn49Ser Uncertain significance Single submitter
- MNS1 p.Asp145Val Uncertain significance Single submitter
- MNS1 p.Asp178Tyr Uncertain significance Single submitter
- MNS1 p.Asp472Asn Uncertain significance Single submitter
- MNS1 p.Cys23Trp Uncertain significance Single submitter
- MNS1 p.Cys23Tyr Uncertain significance Single submitter
- MNS1 p.Gln151Leu Uncertain significance Single submitter
- MNS1 p.Gln312Lys Uncertain significance Single submitter
- MNS1 p.Gln434Arg Uncertain significance Single submitter
- MNS1 p.Gln61Glu Uncertain significance Single submitter
- MNS1 p.Gln74Lys Uncertain significance Single submitter
- MNS1 p.Glu12Ala Uncertain significance Single submitter
- MNS1 p.Glu192Gln Uncertain significance Single submitter
- MNS1 p.Glu251Gln Uncertain significance Single submitter
- MNS1 p.Glu272Asp Uncertain significance Single submitter
- MNS1 p.Glu317Gln Uncertain significance Single submitter
- MNS1 p.Glu370Gln Uncertain significance Single submitter
- MNS1 p.Ile119Asn Uncertain significance Single submitter
- MNS1 p.Ile271Thr Uncertain significance Single submitter
- MNS1 p.Ile412Thr Uncertain significance Single submitter
- MNS1 p.Ile443Val Uncertain significance Single submitter
-
MNS1 p.Ile73Leu
Uncertain significance
Single submitter
heterotaxy, visceral, 9, autosomal, with male infertility
- MNS1 p.Leu402Met Uncertain significance Single submitter
- MNS1 p.Leu97Met Uncertain significance Single submitter
- MNS1 p.Leu97Phe Uncertain significance Single submitter
- MNS1 p.Lys171Glu Uncertain significance Single submitter
- MNS1 p.Lys24Glu Uncertain significance Single submitter
- MNS1 p.Lys80Arg Uncertain significance Single submitter
- MNS1 p.Lys88Arg Uncertain significance Single submitter
- MNS1 p.Met238Ile Uncertain significance Single submitter
- MNS1 p.Met69Val Uncertain significance Single submitter
- MNS1 p.Met95Thr Uncertain significance Single submitter
- MNS1 p.Phe354Ser Uncertain significance Single submitter
-
MNS1 p.Pro464Leu
Uncertain significance
Single submitter
heterotaxy, visceral, 9, autosomal, with male infertility
- MNS1 p.Thr161Ser Uncertain significance Single submitter
- MNS1 p.Tyr149Cys Uncertain significance Single submitter
- MNS1 p.Val467Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- MNS1 p.Gln55Pro Benign Multiple submitters
- MNS1 p.Ala253Pro Uncertain significance Single submitter
- MNS1 p.Ala442Pro Uncertain significance Single submitter
- MNS1 p.Arg284Pro Uncertain significance Single submitter
- MNS1 p.Arg311Trp Uncertain significance Single submitter
- MNS1 p.Arg313Cys Uncertain significance Single submitter
- MNS1 p.Arg320Gly Uncertain significance Single submitter
- MNS1 p.Arg415His Uncertain significance Single submitter
- MNS1 p.Arg416Cys Uncertain significance Single submitter
- MNS1 p.Arg436Trp Uncertain significance Single submitter
-
MNS1 p.Glu125Asp
Uncertain significance
Single submitter
heterotaxy, visceral, 9, autosomal, with male infertility
- MNS1 p.Glu136Gln Uncertain significance Single submitter
- MNS1 p.Glu372Lys Uncertain significance Single submitter
- MNS1 p.Glu385Gly Uncertain significance Single submitter
- MNS1 p.Ile474Asn Uncertain significance Single submitter
- MNS1 p.Leu380Pro Uncertain significance Single submitter
- MNS1 p.Lys222Asn Uncertain significance Single submitter
- MNS1 p.Lys450Gln Likely benign Single submitter
-
MNS1 p.Arg425His
Likely benign
No assertion criteria
MNS1-related disorder
All MNS1 variants
Pathogenic 2
- p.Cys23Ter No assertion criteria heterotaxy, visceral, 9, autosomal, with male infertility
- p.Gln203fs No assertion criteria heterotaxy, visceral, 9, autosomal, with male infertility
Pathogenic/Likely pathogenic 1
- p.Arg242Ter Multiple submitters heterotaxy, visceral, 9, autosomal, with male infertility
Likely pathogenic 6
- p.Glu226del Multiple submitters heterotaxy, visceral, 9, autosomal, with male infertility
- c.456+1G>T Single submitter heterotaxy, visceral, 9, autosomal, with male infertility
- p.Arg180Ter Single submitter heterotaxy, visceral, 9, autosomal, with male infertility
- p.Glu136fs Single submitter situs inversus
- p.Ile170fs Single submitter heterotaxy, visceral, 9, autosomal, with male infertility
- p.Glu78Ter No assertion criteria MNS1-related disorder
Benign 3
- c.1396-15G>A Multiple submitters
- p.Gln55Pro Multiple submitters ⚠
- p.Ter496Leu Single submitter
Likely benign 7
- c.457-7A>C Single submitter
- p.Ala183Val Single submitter
- p.Ala253= Single submitter
- p.Lys200Arg Single submitter
- p.Lys450Gln Single submitter ⚠
- p.Met241Thr Single submitter
- p.Arg425His No assertion criteria MNS1-related disorder ⚠
Uncertain significance 67
- c.353+3A>G Multiple submitters MNS1-related disorder
- p.Ala156Val Single submitter ⚠
- p.Ala253Pro Single submitter ⚠
- p.Ala253Ser Single submitter ⚠
- p.Ala253Thr Single submitter ⚠
- p.Ala442Pro Single submitter ⚠
- p.Arg180Gln Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg284Pro Single submitter ⚠
- p.Arg311Trp Single submitter ⚠
- p.Arg313Cys Single submitter ⚠
- p.Arg313His Single submitter ⚠
- p.Arg320Gly Single submitter ⚠
- p.Arg388Gln Single submitter heterotaxy, visceral, 9, autosomal, with male infertility ⚠
- p.Arg388Gly Single submitter
- p.Arg415His Single submitter ⚠
- p.Arg416Cys Single submitter ⚠
- p.Arg436Trp Single submitter ⚠
- p.Arg448Ser Single submitter ⚠
- p.Asn49Ser Single submitter ⚠
- p.Asp145Val Single submitter ⚠
- p.Asp178Tyr Single submitter ⚠
- p.Asp387Val Single submitter
- p.Asp472Asn Single submitter ⚠
- p.Cys23Trp Single submitter ⚠
- p.Cys23Tyr Single submitter ⚠
- p.Gln140Arg Single submitter
- p.Gln151Leu Single submitter ⚠
- p.Gln312Lys Single submitter ⚠
- p.Gln434Arg Single submitter ⚠
- p.Gln61Glu Single submitter ⚠
- p.Gln74Lys Single submitter ⚠
- p.Glu125Asp Single submitter heterotaxy, visceral, 9, autosomal, with male infertility ⚠
- p.Glu12Ala Single submitter ⚠
- p.Glu136Gln Single submitter ⚠
- p.Glu192Gln Single submitter ⚠
- p.Glu251Gln Single submitter ⚠
- p.Glu272Asp Single submitter ⚠
- p.Glu317Gln Single submitter ⚠
- p.Glu370Gln Single submitter ⚠
- p.Glu372Lys Single submitter ⚠
- p.Glu385Gly Single submitter ⚠
- p.Ile119Asn Single submitter ⚠
- p.Ile271Thr Single submitter ⚠
- p.Ile412Thr Single submitter ⚠
- p.Ile443Val Single submitter ⚠
- p.Ile474Asn Single submitter ⚠
- p.Ile73Leu Single submitter heterotaxy, visceral, 9, autosomal, with male infertility ⚠
- p.Leu380Pro Single submitter ⚠
- p.Leu402Met Single submitter ⚠
- p.Leu97Met Single submitter ⚠
- p.Leu97Phe Single submitter ⚠
- p.Lys171Glu Single submitter ⚠
- p.Lys222Asn Single submitter ⚠
- p.Lys24Glu Single submitter ⚠
- p.Lys469Ter Single submitter
- p.Lys4Ter Single submitter heterotaxy, visceral, 9, autosomal, with male infertility
- p.Lys80Arg Single submitter ⚠
- p.Lys88Arg Single submitter ⚠
- p.Met238Ile Single submitter ⚠
- p.Met69Val Single submitter ⚠
- p.Met95Thr Single submitter ⚠
- p.Phe354Ser Single submitter ⚠
- p.Pro464Leu Single submitter heterotaxy, visceral, 9, autosomal, with male infertility ⚠
- p.Thr161Ser Single submitter ⚠
- p.Tyr149Cys Single submitter ⚠
- p.Val467Ile Single submitter ⚠