SMPD2 — 62 ClinVar variants
All ClinVar germline SMPD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
1 Benign · 5 Likely benign · 56 Uncertain significance
Full SMPD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SMPD2 p.Ala132Thr Uncertain significance Single submitter
- SMPD2 p.Ala200Thr Uncertain significance Single submitter
- SMPD2 p.Ala309Thr Uncertain significance Single submitter
- SMPD2 p.Ala327Thr Uncertain significance Single submitter
- SMPD2 p.Ala327Val Uncertain significance Single submitter
- SMPD2 p.Ala370Thr Uncertain significance Single submitter
- SMPD2 p.Ala396Val Uncertain significance Single submitter
- SMPD2 p.Arg205Pro Uncertain significance Single submitter
- SMPD2 p.Arg8Gln Uncertain significance Single submitter
- SMPD2 p.Asn214Lys Uncertain significance Single submitter
- SMPD2 p.Asn380Ser Uncertain significance Single submitter
- SMPD2 p.Asp199Glu Uncertain significance Single submitter
- SMPD2 p.Cys176Gly Uncertain significance Single submitter
- SMPD2 p.Gln155Pro Uncertain significance Single submitter
- SMPD2 p.Gly316Arg Uncertain significance Single submitter
- SMPD2 p.Gly394Glu Uncertain significance Single submitter
- SMPD2 p.Gly76Glu Uncertain significance Single submitter
- SMPD2 p.His25Gln Uncertain significance Single submitter
- SMPD2 p.His391Tyr Uncertain significance Single submitter
- SMPD2 p.Ile90Val Uncertain significance Single submitter
- SMPD2 p.Leu202Val Uncertain significance Single submitter
- SMPD2 p.Leu44Val Uncertain significance Single submitter
- SMPD2 p.Lys168Arg Uncertain significance Single submitter
- SMPD2 p.Lys307Gln Uncertain significance Single submitter
- SMPD2 p.Met128Ile Uncertain significance Single submitter
- SMPD2 p.Met276Val Uncertain significance Single submitter
- SMPD2 p.Phe162Cys Uncertain significance Single submitter
- SMPD2 p.Phe162Val Uncertain significance Single submitter
- SMPD2 p.Pro263Leu Uncertain significance Single submitter
- SMPD2 p.Pro286Gln Uncertain significance Single submitter
- SMPD2 p.Pro301Leu Uncertain significance Single submitter
- SMPD2 p.Ser210Phe Uncertain significance Single submitter
- SMPD2 p.Ser224Thr Uncertain significance Single submitter
- SMPD2 p.Ser270Cys Uncertain significance Single submitter
- SMPD2 p.Ser300Leu Uncertain significance Single submitter
- SMPD2 p.Ser361Asn Uncertain significance Single submitter
- SMPD2 p.Ser361Ile Uncertain significance Single submitter
- SMPD2 p.Thr293Ile Uncertain significance Single submitter
- SMPD2 p.Thr311Met Uncertain significance Single submitter
- SMPD2 p.Thr359Ile Uncertain significance Single submitter
- SMPD2 p.Trp157Arg Uncertain significance Single submitter
- SMPD2 p.Trp310Arg Uncertain significance Single submitter
- SMPD2 p.Tyr383His Uncertain significance Single submitter
- SMPD2 p.Val172Met Uncertain significance Single submitter
- SMPD2 p.Val173Leu Uncertain significance Single submitter
- SMPD2 p.Val223Ala Uncertain significance Single submitter
- SMPD2 p.Val281Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- SMPD2 p.Ala368Val Uncertain significance Single submitter
- SMPD2 p.Gly403Asp Uncertain significance Single submitter
- SMPD2 p.Leu275Met Uncertain significance Single submitter
- SMPD2 p.Phe113Leu Uncertain significance Single submitter
- SMPD2 p.Phe36Leu Uncertain significance Single submitter
- SMPD2 p.Thr204Ile Uncertain significance Single submitter
All SMPD2 variants
Benign 1
- p.Leu190= Single submitter
Likely benign 5
- p.Ala345Val Single submitter
- p.Ala350= Single submitter
- p.His198Arg Single submitter
- p.Ser75= Single submitter
- p.Tyr222= Single submitter
Uncertain significance 56
- p.Ala132Thr Single submitter ⚠
- p.Ala200Thr Single submitter ⚠
- p.Ala309Thr Single submitter ⚠
- p.Ala327Thr Single submitter ⚠
- p.Ala327Val Single submitter ⚠
- p.Ala368Val Single submitter ⚠
- p.Ala370Thr Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Arg143Leu Single submitter
- p.Arg205Pro Single submitter ⚠
- p.Arg8Gln Single submitter ⚠
- p.Asn214Lys Single submitter ⚠
- p.Asn380Ser Single submitter ⚠
- p.Asp199Glu Single submitter ⚠
- p.Cys176Gly Single submitter ⚠
- p.Gln155Pro Single submitter ⚠
- p.Glu378Val Single submitter
- p.Gly209Ser Single submitter
- p.Gly316Arg Single submitter ⚠
- p.Gly394Glu Single submitter ⚠
- p.Gly403Asp Single submitter ⚠
- p.Gly76Glu Single submitter ⚠
- p.His25Gln Single submitter ⚠
- p.His391Tyr Single submitter ⚠
- p.Ile90Val Single submitter ⚠
- p.Leu202Val Single submitter ⚠
- p.Leu275Met Single submitter ⚠
- p.Leu44Val Single submitter ⚠
- p.Lys168Arg Single submitter ⚠
- p.Lys307Gln Single submitter ⚠
- p.Met128Ile Single submitter ⚠
- p.Met276Val Single submitter ⚠
- p.Phe113Leu Single submitter ⚠
- p.Phe162Cys Single submitter ⚠
- p.Phe162Val Single submitter ⚠
- p.Phe36Leu Single submitter ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro286Gln Single submitter ⚠
- p.Pro301Leu Single submitter ⚠
- p.Ser210Phe Single submitter ⚠
- p.Ser224Thr Single submitter ⚠
- p.Ser270Cys Single submitter ⚠
- p.Ser300Leu Single submitter ⚠
- p.Ser361Asn Single submitter ⚠
- p.Ser361Ile Single submitter ⚠
- p.Thr204Ile Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr311Met Single submitter ⚠
- p.Thr359Ile Single submitter ⚠
- p.Trp157Arg Single submitter ⚠
- p.Trp310Arg Single submitter ⚠
- p.Tyr383His Single submitter ⚠
- p.Val172Met Single submitter ⚠
- p.Val173Leu Single submitter ⚠
- p.Val223Ala Single submitter ⚠
- p.Val281Leu Single submitter ⚠