MCOLN2 — 86 ClinVar variants
All ClinVar germline MCOLN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
6 Benign · 6 Likely benign · 74 Uncertain significance
Full MCOLN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MCOLN2 p.Ala127Ser Uncertain significance Single submitter
- MCOLN2 p.Ala256Ser Uncertain significance Single submitter
- MCOLN2 p.Ala28Thr Uncertain significance Single submitter
- MCOLN2 p.Ala2Gly Uncertain significance Single submitter
- MCOLN2 p.Ala303Val Uncertain significance Single submitter
- MCOLN2 p.Ala424Asp Uncertain significance Single submitter
- MCOLN2 p.Arg238Cys Uncertain significance Single submitter
- MCOLN2 p.Arg238His Uncertain significance Single submitter
- MCOLN2 p.Arg319Gln Uncertain significance Single submitter
- MCOLN2 p.Arg32Cys Uncertain significance Single submitter
- MCOLN2 p.Arg332Gln Uncertain significance Single submitter
- MCOLN2 p.Arg419Gln Uncertain significance Single submitter
- MCOLN2 p.Arg484Cys Uncertain significance Single submitter
- MCOLN2 p.Arg553Gln Uncertain significance Single submitter
- MCOLN2 p.Arg553Trp Uncertain significance Single submitter
- MCOLN2 p.Arg82Gly Uncertain significance Single submitter
- MCOLN2 p.Arg82Leu Uncertain significance Single submitter
- MCOLN2 p.Asn207Ser Uncertain significance Single submitter
- MCOLN2 p.Asn450Ser Uncertain significance Single submitter
- MCOLN2 p.Asp185Asn Uncertain significance Single submitter
- MCOLN2 p.Asp338Asn Uncertain significance Single submitter
- MCOLN2 p.Asp444Gly Uncertain significance Single submitter
- MCOLN2 p.Cys119Phe Uncertain significance Single submitter
- MCOLN2 p.Cys274Arg Uncertain significance Single submitter
- MCOLN2 p.Cys533Arg Uncertain significance Single submitter
- MCOLN2 p.Cys552Ser Uncertain significance Single submitter
- MCOLN2 p.Gln474Arg Uncertain significance Single submitter
- MCOLN2 p.Glu341Val Uncertain significance Single submitter
- MCOLN2 p.Glu43Asp Uncertain significance Single submitter
- MCOLN2 p.Gly171Glu Uncertain significance Single submitter
- MCOLN2 p.Gly430Arg Uncertain significance Single submitter
- MCOLN2 p.His226Leu Uncertain significance Single submitter
- MCOLN2 p.His443Arg Uncertain significance Single submitter
- MCOLN2 p.His443Leu Uncertain significance Single submitter
- MCOLN2 p.Ile13Ser Uncertain significance Single submitter
- MCOLN2 p.Ile300Val Uncertain significance Single submitter
- MCOLN2 p.Ile359Thr Uncertain significance Single submitter
- MCOLN2 p.Ile472Met Uncertain significance Single submitter
- MCOLN2 p.Ile477Thr Uncertain significance Single submitter
- MCOLN2 p.Ile565Val Uncertain significance Single submitter
- MCOLN2 p.Leu198Phe Uncertain significance Single submitter
- MCOLN2 p.Leu305Phe Uncertain significance Single submitter
- MCOLN2 p.Leu316Val Uncertain significance Single submitter
- MCOLN2 p.Leu387Pro Uncertain significance Single submitter
- MCOLN2 p.Leu80Pro Uncertain significance Single submitter
- MCOLN2 p.Lys331Arg Uncertain significance Single submitter
- MCOLN2 p.Lys445Glu Uncertain significance Single submitter
- MCOLN2 p.Met173Thr Uncertain significance Single submitter
- MCOLN2 p.Phe546Ser Uncertain significance Single submitter
- MCOLN2 p.Pro175Ser Uncertain significance Single submitter
- MCOLN2 p.Pro202Ala Uncertain significance Single submitter
- MCOLN2 p.Pro203Leu Uncertain significance Single submitter
- MCOLN2 p.Pro63Leu Uncertain significance Single submitter
- MCOLN2 p.Ser208Ala Uncertain significance Single submitter
- MCOLN2 p.Thr148Ile Uncertain significance Single submitter
- MCOLN2 p.Thr172Asn Uncertain significance Single submitter
- MCOLN2 p.Thr249Met Uncertain significance Single submitter
- MCOLN2 p.Thr78Ile Uncertain significance Single submitter
- MCOLN2 p.Thr98Asn Uncertain significance Single submitter
- MCOLN2 p.Val163Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- MCOLN2 p.Ala134Gly Uncertain significance Single submitter
- MCOLN2 p.Asp189Gly Uncertain significance Single submitter
- MCOLN2 p.Asp354Asn Uncertain significance Single submitter
- MCOLN2 p.Gly229Val Uncertain significance Single submitter
- MCOLN2 p.Leu449Met Uncertain significance Single submitter
- MCOLN2 p.Leu89Pro Uncertain significance Single submitter
- MCOLN2 p.Thr386Met Uncertain significance Single submitter
- MCOLN2 p.Thr524Arg Uncertain significance Single submitter
All MCOLN2 variants
Benign 6
- c.1110+10G>A Multiple submitters
- c.1213-10T>A Multiple submitters
- p.Glu15= Multiple submitters
- p.Lys370Gln Multiple submitters
- p.Met365Val Multiple submitters
- p.Val20Ile Multiple submitters
Likely benign 6
- p.Arg32His Single submitter
- p.Arg557Gly Single submitter
- p.Arg60His Single submitter
- p.His226Arg Single submitter
- p.Val186Ile Single submitter
- p.Val25Ala Single submitter
Uncertain significance 74
- p.Ala127Ser Single submitter ⚠
- p.Ala134Gly Single submitter ⚠
- p.Ala256Ser Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala303Val Single submitter ⚠
- p.Ala424Asp Single submitter ⚠
- p.Arg238Cys Single submitter ⚠
- p.Arg238His Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg332Gln Single submitter ⚠
- p.Arg419Gln Single submitter ⚠
- p.Arg484Cys Single submitter ⚠
- p.Arg553Gln Single submitter ⚠
- p.Arg553Trp Single submitter ⚠
- p.Arg82Gly Single submitter ⚠
- p.Arg82Leu Single submitter ⚠
- p.Asn207Ser Single submitter ⚠
- p.Asn450Ser Single submitter ⚠
- p.Asp185Asn Single submitter ⚠
- p.Asp189Gly Single submitter ⚠
- p.Asp338Asn Single submitter ⚠
- p.Asp354Asn Single submitter ⚠
- p.Asp444Gly Single submitter ⚠
- p.Asp508Gly Single submitter
- p.Cys119Phe Single submitter ⚠
- p.Cys274Arg Single submitter ⚠
- p.Cys533Arg Single submitter ⚠
- p.Cys552Ser Single submitter ⚠
- p.Gln474Arg Single submitter ⚠
- p.Glu341Val Single submitter ⚠
- p.Glu43Asp Single submitter ⚠
- p.Gly171Glu Single submitter ⚠
- p.Gly229Val Single submitter ⚠
- p.Gly430Arg Single submitter ⚠
- p.His226Leu Single submitter ⚠
- p.His443Arg Single submitter ⚠
- p.His443Leu Single submitter ⚠
- p.Ile13Ser Single submitter ⚠
- p.Ile300Val Single submitter ⚠
- p.Ile359Thr Single submitter ⚠
- p.Ile472Met Single submitter ⚠
- p.Ile477Thr Single submitter ⚠
- p.Ile495Met Single submitter
- p.Ile565Val Single submitter ⚠
- p.Leu198Phe Single submitter ⚠
- p.Leu305Phe Single submitter ⚠
- p.Leu316Val Single submitter ⚠
- p.Leu387Pro Single submitter ⚠
- p.Leu449Met Single submitter ⚠
- p.Leu80Pro Single submitter ⚠
- p.Leu89Pro Single submitter ⚠
- p.Lys331Arg Single submitter ⚠
- p.Lys445Glu Single submitter ⚠
- p.Lys72Arg Single submitter
- p.Met173Thr Single submitter ⚠
- p.Phe546Ser Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Pro202Ala Single submitter ⚠
- p.Pro203Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Ser208Ala Single submitter ⚠
- p.Thr148Ile Single submitter ⚠
- p.Thr172Asn Single submitter ⚠
- p.Thr249Met Single submitter ⚠
- p.Thr386Met Single submitter ⚠
- p.Thr524Arg Single submitter ⚠
- p.Thr78Ile Single submitter ⚠
- p.Thr98Asn Single submitter ⚠
- p.Tyr330Ser Single submitter
- p.Val163Ile Single submitter ⚠
- p.Val389Leu Single submitter
- p.Val76Ala Single submitter