Sugi Variant

Sugi Variant/DOLK

DOLK — 567 ClinVar variants

All ClinVar germline DOLK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 337 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 34 Conflicting · 1 Benign · 5 Benign/Likely benign · 152 Likely benign · 362 Uncertain significance

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

⚑ Evidence disagreements 337

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 16

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

Predictors lean, ClinVar uncertain 207

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 207

Predictors split 114

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

All DOLK variants

Pathogenic 6

  • p.Gly448Arg Single submitter DK1-congenital disorder of glycosylation
  • p.Met1Ile Single submitter DK1-congenital disorder of glycosylation
  • p.Phe245fs Single submitter Cardiovascular phenotype
  • p.Cys99Ser No assertion criteria DK1-congenital disorder of glycosylation ⚠
  • p.Trp304Cys No assertion criteria DK1-congenital disorder of glycosylation
  • p.Tyr441Ser No assertion criteria DK1-congenital disorder of glycosylation

Pathogenic/Likely pathogenic 1

  • p.Met1Thr Multiple submitters Cardiovascular phenotype

Likely pathogenic 6

  • p.Gln331Ter Single submitter Cardiovascular phenotype
  • p.His408Asp Single submitter DK1-congenital disorder of glycosylation
  • p.Ile371Asn Single submitter
  • p.Ile371fs Single submitter DK1-congenital disorder of glycosylation
  • p.Trp286Ter Single submitter Cardiovascular phenotype
  • p.Trp44Ter Single submitter Cardiovascular phenotype

Conflicting classifications of pathogenicity 34

  • p.Ala336Thr Single submitter DK1-congenital disorder of glycosylation ⚠
  • p.Ala442Thr Single submitter DK1-congenital disorder of glycosylation ⚠
  • p.Arg211= Single submitter Cardiovascular phenotype
  • p.Arg211Cys Single submitter Cardiovascular phenotype ⚠
  • p.Arg356Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg465His Single submitter Cardiovascular phenotype ⚠
  • p.Asn178Ser Single submitter DK1-congenital disorder of glycosylation ⚠
  • p.Asp224Val Single submitter DK1-congenital disorder of glycosylation ⚠
  • p.Asp494Gly Single submitter Cardiovascular phenotype ⚠
  • p.Cys426fs Single submitter Cardiovascular phenotype
  • p.Gln428Pro Single submitter DK1-congenital disorder of glycosylation ⚠
  • p.Glu193= Single submitter Cardiovascular phenotype
  • p.Gly18Arg Single submitter DK1-congenital disorder of glycosylation ⚠
  • p.Ile257= Single submitter DK1-congenital disorder of glycosylation
  • p.Ile419Met Single submitter Cardiovascular phenotype ⚠
  • p.Ile480Val Single submitter Cardiovascular phenotype ⚠
  • p.Leu171= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu291= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu412= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu438= Single submitter Cardiovascular phenotype
  • p.Leu445fs Single submitter Cardiovascular phenotype
  • p.Leu64= Single submitter DK1-congenital disorder of glycosylation
  • p.Met234Val Single submitter Cardiovascular phenotype ⚠
  • p.Phe372Ile Single submitter DK1-congenital disorder of glycosylation ⚠
  • p.Ser125fs Single submitter DK1-congenital disorder of glycosylation
  • p.Ser401fs Single submitter Cardiovascular phenotype
  • p.Ser479= Single submitter Cardiovascular phenotype
  • p.Ser486Thr Single submitter Cardiovascular phenotype ⚠
  • p.Thr520Ala Single submitter DOLK-related disorder ⚠
  • p.Tyr360Cys Single submitter Cardiovascular phenotype ⚠
  • p.Tyr55Ter Single submitter DK1-congenital disorder of glycosylation
  • p.Val127Ala Single submitter Cardiovascular phenotype ⚠
  • p.Val175= Single submitter Cardiovascular phenotype
  • p.Val70= Single submitter Cardiovascular phenotype

Benign 1

Benign/Likely benign 5

  • c.-404G>A Multiple submitters DK1-congenital disorder of glycosylation
  • c.-49A>G Multiple submitters DK1-congenital disorder of glycosylation
  • p.Arg337= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ile484Val Multiple submitters Cardiovascular phenotype
  • p.Met1fs Multiple submitters Cardiovascular phenotype

Likely benign 152

  • c.-604T>C Multiple submitters
  • p.Ala129= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ala302= Multiple submitters Cardiovascular phenotype
  • p.Ala308= Multiple submitters Cardiovascular phenotype
  • p.Ala362= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ala442= Multiple submitters Cardiovascular phenotype
  • p.Ala504= Multiple submitters Cardiovascular phenotype
  • p.Ala53= Multiple submitters Cardiovascular phenotype
  • p.Ala69= Multiple submitters Cardiovascular phenotype
  • p.Ala77= Multiple submitters Cardiovascular phenotype
  • p.Arg322= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Arg356= Multiple submitters Cardiovascular phenotype
  • p.Arg389= Multiple submitters Cardiovascular phenotype
  • p.Arg399= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Arg465= Multiple submitters Cardiovascular phenotype
  • p.Arg62= Multiple submitters Cardiovascular phenotype
  • p.Arg98= Multiple submitters Cardiovascular phenotype
  • p.Asn178= Multiple submitters Cardiovascular phenotype
  • p.Asp295= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Asp494= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Cys366= Multiple submitters Cardiovascular phenotype
  • p.Glu474= Multiple submitters Cardiovascular phenotype
  • p.Gly11= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Gly145= Multiple submitters Cardiovascular phenotype
  • p.Gly199= Multiple submitters Cardiovascular phenotype
  • p.Gly269= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ile151= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ile298= Multiple submitters Cardiovascular phenotype
  • p.Ile335= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ile353= Multiple submitters Cardiovascular phenotype
  • p.Leu16= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Leu227= Multiple submitters Cardiovascular phenotype
  • p.Leu236= Multiple submitters Cardiovascular phenotype
  • p.Leu244= Multiple submitters Cardiovascular phenotype
  • p.Leu306= Multiple submitters Cardiovascular phenotype
  • p.Leu307= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Leu32= Multiple submitters Cardiovascular phenotype
  • p.Leu388= Multiple submitters Cardiovascular phenotype
  • p.Leu489= Multiple submitters Cardiovascular phenotype
  • p.Leu49= Multiple submitters Cardiovascular phenotype
  • p.Leu533= Multiple submitters Cardiovascular phenotype
  • p.Lys429Arg Multiple submitters Cardiovascular phenotype
  • p.Lys59= Multiple submitters Cardiovascular phenotype
  • p.Lys96= Multiple submitters Cardiovascular phenotype
  • p.Phe370= Multiple submitters Cardiovascular phenotype
  • p.Pro273= Multiple submitters Cardiovascular phenotype
  • p.Pro333= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Pro440= Multiple submitters Cardiovascular phenotype
  • p.Pro8= Multiple submitters Cardiovascular phenotype
  • p.Ser325= Multiple submitters Cardiovascular phenotype
  • p.Ser390= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ser43= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Ser509= Multiple submitters Cardiovascular phenotype
  • p.Thr296= Multiple submitters Cardiovascular phenotype
  • p.Thr407= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Thr478= Multiple submitters Cardiovascular phenotype
  • p.Tyr183= Multiple submitters Cardiovascular phenotype
  • p.Tyr303= Multiple submitters Cardiovascular phenotype
  • p.Tyr519= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Val167= Multiple submitters Cardiovascular phenotype
  • p.Val30= Multiple submitters Cardiovascular phenotype
  • p.Val345= Multiple submitters
  • p.Val38= Multiple submitters DK1-congenital disorder of glycosylation
  • p.Val444= Multiple submitters Cardiovascular phenotype
  • p.Val497= Multiple submitters Cardiovascular phenotype
  • p.Ala29= Single submitter Cardiovascular phenotype
  • p.Ala336= Single submitter Cardiovascular phenotype
  • p.Ala346= Single submitter Cardiovascular phenotype
  • p.Ala368= Single submitter Cardiovascular phenotype
  • p.Ala454= Single submitter DK1-congenital disorder of glycosylation
  • p.Ala482= Single submitter Cardiovascular phenotype
  • p.Ala9= Single submitter DK1-congenital disorder of glycosylation
  • p.Arg281= Single submitter DK1-congenital disorder of glycosylation
  • p.Arg380= Single submitter DK1-congenital disorder of glycosylation
  • p.Asp221= Single submitter Cardiovascular phenotype
  • p.Asp249= Single submitter DK1-congenital disorder of glycosylation
  • p.Asp355= Single submitter DK1-congenital disorder of glycosylation
  • p.Asp451= Single submitter Cardiovascular phenotype
  • p.Asp61= Single submitter Cardiovascular phenotype
  • p.Cys5= Single submitter DK1-congenital disorder of glycosylation
  • p.Gln52= Single submitter Cardiovascular phenotype
  • p.Gln66= Single submitter Cardiovascular phenotype
  • p.Gly233= Single submitter DK1-congenital disorder of glycosylation
  • p.Gly433Ala Single submitter Cardiovascular phenotype
  • p.Gly458= Single submitter Cardiovascular phenotype
  • p.Gly475= Single submitter Cardiovascular phenotype
  • p.His260= Single submitter Cardiovascular phenotype
  • p.His276= Single submitter Cardiovascular phenotype
  • p.His341= Single submitter Cardiovascular phenotype
  • p.Ile165= Single submitter Cardiovascular phenotype
  • p.Ile180= Single submitter DK1-congenital disorder of glycosylation
  • p.Ile371= Single submitter Cardiovascular phenotype
  • p.Ile381= Single submitter DK1-congenital disorder of glycosylation
  • p.Ile456= Single submitter Cardiovascular phenotype
  • p.Ile464= Single submitter Cardiovascular phenotype
  • p.Leu130= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu172= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu181= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu21= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu261= Single submitter Cardiovascular phenotype
  • p.Leu272= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu278= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu288= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu316= Single submitter
  • p.Leu342Phe Single submitter Cardiovascular phenotype
  • p.Leu359= Single submitter
  • p.Leu373= Single submitter Cardiovascular phenotype
  • p.Leu392= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu499= Single submitter Cardiovascular phenotype
  • p.Leu532= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu535= Single submitter DK1-congenital disorder of glycosylation
  • p.Leu82= Single submitter DK1-congenital disorder of glycosylation
  • p.Met86Val Single submitter Cardiovascular phenotype
  • p.Phe174= Single submitter DK1-congenital disorder of glycosylation
  • p.Phe258= Single submitter Cardiovascular phenotype
  • p.Phe372= Single submitter DK1-congenital disorder of glycosylation
  • p.Phe379= Single submitter Cardiovascular phenotype
  • p.Phe391= Single submitter Cardiovascular phenotype
  • p.Phe457= Single submitter DK1-congenital disorder of glycosylation
  • p.Phe73= Single submitter Cardiovascular phenotype
  • p.Pro15= Single submitter DK1-congenital disorder of glycosylation
  • p.Pro186= Single submitter Cardiovascular phenotype
  • p.Pro191= Single submitter
  • p.Pro357= Single submitter DK1-congenital disorder of glycosylation
  • p.Pro383= Single submitter DK1-congenital disorder of glycosylation
  • p.Ser202= Single submitter Cardiovascular phenotype
  • p.Ser250= Single submitter Cardiovascular phenotype
  • p.Ser267= Single submitter Cardiovascular phenotype
  • p.Ser305= Single submitter DK1-congenital disorder of glycosylation
  • p.Thr214= Single submitter Cardiovascular phenotype
  • p.Thr364= Single submitter DK1-congenital disorder of glycosylation
  • p.Thr452= Single submitter Cardiovascular phenotype
  • p.Thr460= Single submitter DK1-congenital disorder of glycosylation
  • p.Thr469= Single submitter DK1-congenital disorder of glycosylation
  • p.Thr512= Single submitter DK1-congenital disorder of glycosylation
  • p.Thr521= Single submitter DK1-congenital disorder of glycosylation
  • p.Tyr360= Single submitter Cardiovascular phenotype
  • p.Tyr410= Single submitter Cardiovascular phenotype
  • p.Tyr503= Single submitter DK1-congenital disorder of glycosylation
  • p.Val113= Single submitter DK1-congenital disorder of glycosylation
  • p.Val127= Single submitter Cardiovascular phenotype
  • p.Val142= Single submitter DK1-congenital disorder of glycosylation
  • p.Val231= Single submitter DK1-congenital disorder of glycosylation
  • p.Val232= Single submitter Cardiovascular phenotype
  • p.Val246= Single submitter DK1-congenital disorder of glycosylation
  • p.Val271= Single submitter Cardiovascular phenotype
  • p.Val315= Single submitter Cardiovascular phenotype
  • p.Val361= Single submitter Cardiovascular phenotype
  • p.Val369= Single submitter DK1-congenital disorder of glycosylation
  • p.Val453= Single submitter DK1-congenital disorder of glycosylation
  • p.Val47= Single submitter DK1-congenital disorder of glycosylation
  • p.Val87= Single submitter DK1-congenital disorder of glycosylation

Uncertain significance 362

Showing the top 300 by review status; the full set is in the sitemap.