SLC35B2 — 97 ClinVar variants
All ClinVar germline SLC35B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
3 Pathogenic · 1 Conflicting · 2 Benign · 5 Likely benign · 86 Uncertain significance
Full SLC35B2 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 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SLC35B2 p.Ala142Asp Uncertain significance Single submitter
- SLC35B2 p.Ala19Glu Uncertain significance Single submitter
- SLC35B2 p.Ala280Val Uncertain significance Single submitter
- SLC35B2 p.Ala404Gly Uncertain significance Single submitter
- SLC35B2 p.Ala411Thr Uncertain significance Single submitter
- SLC35B2 p.Ala79Val Uncertain significance Single submitter
- SLC35B2 p.Ala88Val Uncertain significance Single submitter
- SLC35B2 p.Arg185Gln Uncertain significance Single submitter
- SLC35B2 p.Arg232Gln Uncertain significance Single submitter
- SLC35B2 p.Arg262Cys Uncertain significance Single submitter
- SLC35B2 p.Arg262His Uncertain significance Single submitter
- SLC35B2 p.Arg262Pro Uncertain significance Single submitter
- SLC35B2 p.Arg333Gln Uncertain significance Single submitter
- SLC35B2 p.Arg412Gln Uncertain significance Single submitter
- SLC35B2 p.Arg414Cys Uncertain significance Single submitter
- SLC35B2 p.Arg414His Uncertain significance Single submitter
- SLC35B2 p.Arg414Pro Uncertain significance Single submitter
- SLC35B2 p.Arg418Trp Uncertain significance Single submitter
- SLC35B2 p.Cys199Tyr Uncertain significance Single submitter
- SLC35B2 p.Gln212Leu Uncertain significance Single submitter
- SLC35B2 p.Gln212Pro Uncertain significance Single submitter
- SLC35B2 p.Gln33His Uncertain significance Single submitter
- SLC35B2 p.Gln352His Uncertain significance Single submitter
- SLC35B2 p.Gln361His Uncertain significance Single submitter
- SLC35B2 p.Glu236Lys Uncertain significance Single submitter
- SLC35B2 p.Glu426Asp Uncertain significance Single submitter
- SLC35B2 p.Glu426Gln Uncertain significance Single submitter
-
SLC35B2 p.Gly249Val
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 26, with chondrodysplasia
- SLC35B2 p.Gly258Arg Uncertain significance Single submitter
- SLC35B2 p.Gly413Asp Uncertain significance Single submitter
- SLC35B2 p.Gly413Cys Uncertain significance Single submitter
- SLC35B2 p.Gly419Arg Uncertain significance Single submitter
- SLC35B2 p.Gly69Asp Uncertain significance Single submitter
- SLC35B2 p.Ile248Thr Uncertain significance Single submitter
- SLC35B2 p.Leu169Ile Uncertain significance Single submitter
- SLC35B2 p.Leu214Arg Uncertain significance Single submitter
- SLC35B2 p.Leu353Ile Uncertain significance Single submitter
- SLC35B2 p.Leu373Phe Uncertain significance Single submitter
- SLC35B2 p.Lys431Glu Uncertain significance Single submitter
- SLC35B2 p.Met106Ile Uncertain significance Single submitter
- SLC35B2 p.Met371Thr Uncertain significance Single submitter
- SLC35B2 p.Phe60Val Uncertain significance Single submitter
- SLC35B2 p.Pro145Leu Uncertain significance Single submitter
- SLC35B2 p.Pro145Ser Uncertain significance Single submitter
- SLC35B2 p.Pro182His Uncertain significance Single submitter
- SLC35B2 p.Pro24Leu Uncertain significance Single submitter
- SLC35B2 p.Pro24Ser Uncertain significance Single submitter
- SLC35B2 p.Pro27His Uncertain significance Single submitter
- SLC35B2 p.Pro75Ala Uncertain significance Single submitter
- SLC35B2 p.Pro96Arg Uncertain significance Single submitter
- SLC35B2 p.Ser152Leu Uncertain significance Single submitter
- SLC35B2 p.Ser251Arg Uncertain significance Single submitter
- SLC35B2 p.Thr358Ala Uncertain significance Single submitter
- SLC35B2 p.Thr372Ile Uncertain significance Single submitter
- SLC35B2 p.Tyr235His Uncertain significance Single submitter
-
SLC35B2 p.Val121Met
Uncertain significance
Single submitter
leukodystrophy, hypomyelinating, 26, with chondrodysplasia
- SLC35B2 p.Val207Ile Uncertain significance Single submitter
- SLC35B2 p.Val223Ala Uncertain significance Single submitter
- SLC35B2 p.Val250Ile Uncertain significance Single submitter
- SLC35B2 p.Val366Ile Uncertain significance Single submitter
- SLC35B2 p.Val400Ala Uncertain significance Single submitter
- SLC35B2 p.Val8Leu Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- SLC35B2 p.Ala140Thr Uncertain significance Single submitter
- SLC35B2 p.Ala142Val Uncertain significance Single submitter
- SLC35B2 p.Arg136Cys Uncertain significance Single submitter
- SLC35B2 p.Arg148Cys Uncertain significance Single submitter
- SLC35B2 p.Arg233His Uncertain significance Single submitter
- SLC35B2 p.Arg329Cys Uncertain significance Single submitter
- SLC35B2 p.Arg329Pro Uncertain significance Single submitter
- SLC35B2 p.Arg414Gly Uncertain significance Single submitter
- SLC35B2 p.Gln289Glu Uncertain significance Single submitter
- SLC35B2 p.Gln301Lys Uncertain significance Single submitter
- SLC35B2 p.Gly327Glu Uncertain significance Single submitter
- SLC35B2 p.Gly83Arg Uncertain significance Single submitter
- SLC35B2 p.Met183Thr Uncertain significance Single submitter
- SLC35B2 p.Met226Thr Uncertain significance Single submitter
- SLC35B2 p.Phe188Ser Uncertain significance Single submitter
- SLC35B2 p.Phe60Leu Uncertain significance Single submitter
- SLC35B2 p.Pro75Leu Uncertain significance Single submitter
- SLC35B2 p.Ser264Phe Uncertain significance Single submitter
- SLC35B2 p.Val220Met Uncertain significance Single submitter
All SLC35B2 variants
Pathogenic 3
- p.Arg408fs Multiple submitters leukodystrophy, hypomyelinating, 26, with chondrodysplasia
- p.Lys296Ter Single submitter leukodystrophy, hypomyelinating, 26, with chondrodysplasia
- p.Leu407del No assertion criteria leukodystrophy, hypomyelinating, 26, with chondrodysplasia
Conflicting classifications of pathogenicity 1
- p.Ser299Leu Single submitter leukodystrophy, hypomyelinating, 11
Benign 2
- p.Leu342Val Single submitter
- p.Thr150= Single submitter
Likely benign 5
- p.Phe206= Multiple submitters
- p.Ala215= Single submitter
- p.Gly360Arg Single submitter
- p.Ile165Met Single submitter
- p.Tyr123= Single submitter
Uncertain significance 86
- p.Ala140Thr Single submitter ⚠
- p.Ala142Asp Single submitter ⚠
- p.Ala142Val Single submitter ⚠
- p.Ala19Glu Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala404Gly Single submitter ⚠
- p.Ala411Thr Single submitter ⚠
- p.Ala79Val Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Arg136Cys Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg185Gln Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg233His Single submitter ⚠
- p.Arg262Cys Single submitter ⚠
- p.Arg262His Single submitter ⚠
- p.Arg262Pro Single submitter ⚠
- p.Arg329Cys Single submitter ⚠
- p.Arg329Pro Single submitter ⚠
- p.Arg333Gln Single submitter ⚠
- p.Arg412Gln Single submitter ⚠
- p.Arg414Cys Single submitter ⚠
- p.Arg414Gly Single submitter ⚠
- p.Arg414His Single submitter ⚠
- p.Arg414Pro Single submitter ⚠
- p.Arg418Trp Single submitter ⚠
- p.Asn84fs Single submitter
- p.Cys199Tyr Single submitter ⚠
- p.Gln212Leu Single submitter ⚠
- p.Gln212Pro Single submitter ⚠
- p.Gln289Glu Single submitter ⚠
- p.Gln301Lys Single submitter ⚠
- p.Gln321Arg Single submitter
- p.Gln33His Single submitter ⚠
- p.Gln352His Single submitter ⚠
- p.Gln361His Single submitter ⚠
- p.Glu236Lys Single submitter ⚠
- p.Glu426Asp Single submitter ⚠
- p.Glu426Gln Single submitter ⚠
- p.Gly249Val Single submitter leukodystrophy, hypomyelinating, 26, with chondrodysplasia ⚠
- p.Gly258Arg Single submitter ⚠
- p.Gly327Glu Single submitter ⚠
- p.Gly413Asp Single submitter ⚠
- p.Gly413Cys Single submitter ⚠
- p.Gly419Arg Single submitter ⚠
- p.Gly69Asp Single submitter ⚠
- p.Gly83Arg Single submitter ⚠
- p.Ile248Thr Single submitter ⚠
- p.Leu169Ile Single submitter ⚠
- p.Leu214Arg Single submitter ⚠
- p.Leu353Ile Single submitter ⚠
- p.Leu373Phe Single submitter ⚠
- p.Lys431Glu Single submitter ⚠
- p.Met106Ile Single submitter ⚠
- p.Met183Thr Single submitter ⚠
- p.Met226Thr Single submitter ⚠
- p.Met371Thr Single submitter ⚠
- p.Phe188Ser Single submitter ⚠
- p.Phe362Tyr Single submitter
- p.Phe60Leu Single submitter ⚠
- p.Phe60Val Single submitter ⚠
- p.Pro145Leu Single submitter ⚠
- p.Pro145Ser Single submitter ⚠
- p.Pro182His Single submitter ⚠
- p.Pro222fs Single submitter
- p.Pro24Leu Single submitter ⚠
- p.Pro24Ser Single submitter ⚠
- p.Pro27His Single submitter ⚠
- p.Pro75Ala Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Pro96Arg Single submitter ⚠
- p.Ser152Leu Single submitter ⚠
- p.Ser251Arg Single submitter ⚠
- p.Ser264Phe Single submitter ⚠
- p.Thr358Ala Single submitter ⚠
- p.Thr372Ile Single submitter ⚠
- p.Tyr235His Single submitter ⚠
- p.Tyr59Cys Single submitter
- p.Val121Met Single submitter leukodystrophy, hypomyelinating, 26, with chondrodysplasia ⚠
- p.Val207Ile Single submitter ⚠
- p.Val220Met Single submitter ⚠
- p.Val223Ala Single submitter ⚠
- p.Val250Ile Single submitter ⚠
- p.Val366Ile Single submitter ⚠
- p.Val400Ala Single submitter ⚠
- p.Val8Leu Single submitter ⚠