Sugi Variant

Sugi Variant/SLC35A2

SLC35A2 — 351 ClinVar variants

All ClinVar germline SLC35A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 112 flagged for review →

34 Pathogenic · 2 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 21 Conflicting · 21 Benign · 22 Benign/Likely benign · 116 Likely benign · 114 Uncertain significance

Full SLC35A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 112

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 agree, ClinVar conflicts 13

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 82

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 17

The independent predictors disagree with each other — read with care.

All SLC35A2 variants

Pathogenic 34

  • p.Gly282Arg Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ser212fs Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Val331Ile Multiple submitters SLC35A2-congenital disorder of glycosylation
  • c.426+1G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.426+287_775del Single submitter SLC35A2-congenital disorder of glycosylation
  • c.92-12C>A Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala201fs Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala253fs Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala3fs Single submitter
  • p.Arg261fs Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gln129Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gln142Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gln278Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gln46Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu23fs Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Lys114Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Met1Leu Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Phe265fs Single submitter Inborn genetic diseases
  • p.Phe280fs Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Phe316fs Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ser213del Single submitter
  • p.Ser308Phe Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Trp232Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Tyr109Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val117fs Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val218_Tyr219insTer Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val331del Single submitter SLC35A2-congenital disorder of glycosylation
  • c.15_91+48delinsA No assertion criteria SLC35A2-congenital disorder of glycosylation
  • p.Lys78Arg No assertion criteria SLC35A2-congenital disorder of glycosylation
  • p.Met1Ile No assertion criteria SLC35A2-congenital disorder of glycosylation
  • p.Phe324fs No assertion criteria SLC35A2-congenital disorder of glycosylation
  • p.Ser213Phe No assertion criteria SLC35A2-congenital disorder of glycosylation
  • p.Tyr145fs No assertion criteria SLC35A2-congenital disorder of glycosylation
  • p.Val206fs No assertion criteria SLC35A2-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 2

  • p.Gly266fs Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Met1Val Multiple submitters SLC35A2-congenital disorder of glycosylation

Likely pathogenic 21

  • p.Tyr267Cys Multiple submitters SLC35A2-related disorder
  • p.Ala116Pro Single submitter
  • p.Ala300_Leu315del Single submitter epilepsy
  • p.Cys82Phe Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gln185Ter Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Glu103Val Single submitter congenital disorder of glycosylation ⚠
  • p.Gly249_Val258del Single submitter chromosome 1p36 deletion syndrome, proximal
  • p.Leu172Pro Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu175del Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu315Pro Single submitter
  • p.Leu330Pro Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu43Pro Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Met1Lys Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Thr268Ile Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Trp252Ter Single submitter SLC35A2-related disorder
  • p.Tyr130_Val131delinsPhe Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Tyr56_Arg64del Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg55Leu No assertion criteria non-lesional focal epilepsy
  • p.Leu113dup No assertion criteria non-lesional focal epilepsy
  • p.Leu167fs No assertion criteria Epileptic encephalopathy
  • p.Ser304Pro No assertion criteria non-lesional focal epilepsy

Conflicting classifications of pathogenicity 21

  • c.274+5G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.427-4G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.92-7C>G Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala204Thr Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Ala347Thr Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Ala57Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg162His Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg166Trp Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Gln367Arg Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Gly188Ser Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Gly273Ala Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Gly281Ser Single submitter SLC35A2-related disorder ⚠
  • p.Gly281Val Single submitter SLC35A2-related disorder ⚠
  • p.Leu175Phe Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Leu276= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu276Phe Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Leu84= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Pro25Thr Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Pro322= Single submitter Inborn genetic diseases
  • p.Val206Ile Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Val231Met Single submitter SLC35A2-congenital disorder of glycosylation ⚠

Benign 21

  • c.1164-51G>A Multiple submitters
  • c.19+33T>G Multiple submitters
  • c.426+188= Multiple submitters
  • c.1163+16G>T Single submitter SLC35A2-congenital disorder of glycosylation
  • c.426+188C>T Single submitter
  • c.91+9G>C Single submitter SLC35A2-congenital disorder of glycosylation
  • c.92-11G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.92-233G>A Single submitter
  • p.Ala257= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala3Val Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala88Val Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg314His Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg342Gln Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg377Cys Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Asn93= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly357Arg Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ile38Leu Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Pro370= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Pro371Leu Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ser356= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val98Ile Single submitter SLC35A2-congenital disorder of glycosylation

Benign/Likely benign 22

  • p.349AS[3] Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ala187= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ala30= Multiple submitters Inborn genetic diseases
  • p.Ala355Thr Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Arg193Gln Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Arg377His Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Arg377Pro Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Glu24Asp Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ile348Val Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Leu115= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Leu147= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Leu330= Multiple submitters Inborn genetic diseases
  • p.Pro15Thr Multiple submitters Inborn genetic diseases
  • p.Pro25Leu Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ser213= Multiple submitters Inborn genetic diseases
  • p.Ser339Gly Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ser350= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ser352= Multiple submitters Inborn genetic diseases
  • p.Ser354= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Thr382Met Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Val360Ile Multiple submitters Inborn genetic diseases
  • p.Val4= Multiple submitters Inborn genetic diseases

Likely benign 116

  • c.1163+105G>A Multiple submitters
  • c.426+17G>A Multiple submitters SLC35A2-congenital disorder of glycosylation
  • c.426+65A>G Multiple submitters
  • c.-19G>A Multiple submitters
  • c.*32G>A Multiple submitters
  • p.Ala205= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ala22= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ala31= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Arg234= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Arg314= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Arg34= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Asn198= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Cys359= Multiple submitters Inborn genetic diseases
  • p.His319= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Ile149= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Leu113= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Leu85= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Phe241= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Thr123= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Tyr267= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • p.Val143= Multiple submitters SLC35A2-congenital disorder of glycosylation
  • c.1163+30C>G Single submitter
  • c.1163+44_1163+47del Single submitter
  • c.1163+46G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.1164-542T>C Single submitter
  • c.274+12G>C Single submitter SLC35A2-congenital disorder of glycosylation
  • c.274+13G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.274+17G>C Single submitter SLC35A2-congenital disorder of glycosylation
  • c.274+8C>T Single submitter SLC35A2-congenital disorder of glycosylation
  • c.275-16TCC[2] Single submitter SLC35A2-congenital disorder of glycosylation
  • c.275-17C>T Single submitter SLC35A2-congenital disorder of glycosylation
  • c.275-19C>G Single submitter SLC35A2-congenital disorder of glycosylation
  • c.275-9C>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.426+12G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.426+16A>G Single submitter SLC35A2-congenital disorder of glycosylation
  • c.426+74G>A Single submitter
  • c.427-13G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.427-14C>T Single submitter SLC35A2-congenital disorder of glycosylation
  • c.91+14C>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.91+15_91+16insT Single submitter SLC35A2-congenital disorder of glycosylation
  • c.91+16C>G Single submitter SLC35A2-congenital disorder of glycosylation
  • c.91+18A>G Single submitter SLC35A2-congenital disorder of glycosylation
  • c.92-20G>A Single submitter SLC35A2-congenital disorder of glycosylation
  • c.92-291C>T Single submitter
  • c.92-6C>T Single submitter SLC35A2-congenital disorder of glycosylation
  • c.-2C>T Single submitter
  • c.-36dupT Single submitter
  • c.-8A>G Single submitter
  • p.Ala12= Single submitter
  • p.Ala180Thr Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala216Thr Single submitter
  • p.Ala253= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala270= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala344= Single submitter Inborn genetic diseases
  • p.Ala349= Single submitter Inborn genetic diseases
  • p.Ala48= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala67= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ala74= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg162= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg166= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg193= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Arg33= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Asn277= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Asp321= Single submitter
  • p.Asp63Asn Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gln108= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gln89= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly178= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly242Ser Single submitter SLC35A2-congenital disorder of glycosylation ⚠
  • p.Gly249= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly26= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly273= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly281= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly327= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly366Arg Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Gly7= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.His376= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.His96= Single submitter
  • p.Ile223= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu150= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu195= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu250= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu284= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu315= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu386= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu50= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Leu77= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Lys2Asn Single submitter
  • p.Phe215= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Phe220= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Phe280= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Phe87= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Pro192Leu Single submitter Inborn genetic diseases
  • p.Pro365= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Pro369Ser Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Pro371= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ser156= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Ser230= Single submitter
  • p.Thr10= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Thr112= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Thr144= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Thr256= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Thr309= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Thr382= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Thr59= Single submitter
  • p.Tyr109= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Tyr291= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Tyr338= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Tyr37= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Tyr56= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val107= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val206= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val275= Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val320Met Single submitter SLC35A2-congenital disorder of glycosylation
  • p.Val72= Single submitter SLC35A2-congenital disorder of glycosylation
  • c.92-290G>A No assertion criteria SLC35A2-related disorder

Uncertain significance 114