Sugi Variant

Sugi Variant/ADGRL1

ADGRL1 — 417 ClinVar variants

All ClinVar germline ADGRL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 269 flagged for review →

16 Pathogenic · 18 Likely pathogenic · 7 Conflicting · 1 Benign · 1 Benign/Likely benign · 61 Likely benign · 313 Uncertain significance

Full ADGRL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 269

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 1

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

Predictors agree, ClinVar conflicts 5

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 193

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 193

Predictors split 68

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

All ADGRL1 variants

Pathogenic 16

  • p.Arg1131Ter Single submitter Global developmental delay
  • p.Arg1173Ter Single submitter Global developmental delay
  • p.Arg554Ter Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Arg95fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Cys878Ter Single submitter
  • p.Glu684fs Single submitter Global developmental delay
  • p.Gly1139fs Single submitter Inborn genetic diseases
  • p.Met1147Thr Single submitter Global developmental delay ⚠
  • p.Pro664fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Ser1159Phe Single submitter Global developmental delay ⚠
  • p.Ser856Ter Single submitter Inborn genetic diseases
  • p.Trp1000Arg Single submitter Autistic behavior
  • p.Trp273Ter Single submitter Autistic behavior
  • p.Val1086fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Val206fs Single submitter Inborn genetic diseases
  • p.Val757fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders

Likely pathogenic 18

  • c.2150-1G>C Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • c.3126-1G>C Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • c.70+2T>C Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Arg1265Ter Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Arg478Ter Single submitter
  • p.Gln125fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Gln82Arg Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders ⚠
  • p.Gln913Ter Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Gly271Glu Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.His149fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Phe1160fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Pro462fs Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Ser1202Ter Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Trp9Ter Single submitter Autistic behavior
  • p.Tyr131Ter Single submitter developmental delay, behavioral abnormalities, and neuropsychiatric disorders
  • p.Tyr341Cys Single submitter Global developmental delay
  • p.Tyr561Ter Single submitter
  • p.Val1152fs Single submitter ADGRL1-related disorders

Conflicting classifications of pathogenicity 7

Benign 1

Benign/Likely benign 1

Likely benign 61

Uncertain significance 313

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