Sugi Variant

Sugi Variant/KIF14

KIF14 — 508 ClinVar variants

All ClinVar germline KIF14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →

15 Pathogenic · 2 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 8 Conflicting · 63 Benign · 17 Benign/Likely benign · 121 Likely benign · 256 Uncertain significance

Full KIF14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 238

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 197

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 197

Predictors split 33

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

All KIF14 variants

Pathogenic 15

Pathogenic/Likely pathogenic 2

Likely pathogenic 26

  • c.3661+1G>T Multiple submitters Joubert syndrome and related disorders
  • p.Ser1364_Ser1365insTer Multiple submitters lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  • c.1712_1746+27del Single submitter Joubert syndrome and related disorders
  • c.1734_1746+49del Single submitter
  • c.2813+1G>C Single submitter
  • c.2813+2dup Single submitter microcephaly 20, primary, autosomal recessive
  • c.3886+1_3886+2del Single submitter
  • c.3887-8_3930delinsAAA Single submitter microcephaly 20, primary, autosomal recessive
  • c.4428+1G>T Single submitter microcephaly 20, primary, autosomal recessive
  • p.Asn168fs Single submitter lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  • p.Asp1492fs Single submitter microcephaly 20, primary, autosomal recessive
  • p.Gln1207Ter Single submitter microcephaly 20, primary, autosomal recessive
  • p.Gln1357= Single submitter microcephaly 20, primary, autosomal recessive
  • p.Gln1357Ter Single submitter microcephaly 20, primary, autosomal recessive
  • p.Glu375Ter Single submitter microcephaly 20, primary, autosomal recessive
  • p.Glu664fs Single submitter microcephaly 20, primary, autosomal recessive
  • p.Gly1221Val Single submitter Joubert syndrome and related disorders ⚠
  • p.Leu1214fs Single submitter microcephaly 20, primary, autosomal recessive
  • p.Leu3fs Single submitter Joubert syndrome and related disorders
  • p.Lys727fs Single submitter lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
  • p.Lys922fs Single submitter Joubert syndrome and related disorders
  • p.Ser319fs Single submitter microcephaly 20, primary, autosomal recessive
  • p.Ser641fs Single submitter Joubert syndrome and related disorders
  • p.Ser841Phe Single submitter KIF14-related disorder ⚠
  • p.Val341fs Single submitter microcephaly 20, primary, autosomal recessive
  • p.Leu505Pro No assertion criteria lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Conflicting classifications of pathogenicity 8

Benign 63

Benign/Likely benign 17

Likely benign 121

Uncertain significance 256