ARL6IP6 — 41 ClinVar variants
All ClinVar germline ARL6IP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Likely pathogenic · 2 Benign · 38 Uncertain significance
Full ARL6IP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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.
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ARL6IP6 p.Leu125Phe
Likely pathogenic
Single submitter
Bardet-Biedl syndrome
Predictors lean, ClinVar uncertain 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARL6IP6 p.Ala193Thr Uncertain significance Single submitter
- ARL6IP6 p.Ala93Ser Uncertain significance Single submitter
- ARL6IP6 p.Ala99Val Uncertain significance Single submitter
- ARL6IP6 p.Arg103Trp Uncertain significance Single submitter
- ARL6IP6 p.Arg56Gly Uncertain significance Single submitter
- ARL6IP6 p.Arg70Pro Uncertain significance Single submitter
- ARL6IP6 p.Asn88Thr Uncertain significance Single submitter
- ARL6IP6 p.Asp147Gly Uncertain significance Single submitter
- ARL6IP6 p.Asp49His Uncertain significance Single submitter
- ARL6IP6 p.Gln100His Uncertain significance Single submitter
- ARL6IP6 p.Glu46Lys Uncertain significance Single submitter
- ARL6IP6 p.Gly16Ser Uncertain significance Single submitter
- ARL6IP6 p.Gly96Cys Uncertain significance Single submitter
- ARL6IP6 p.Ile111Ser Uncertain significance Single submitter
- ARL6IP6 p.Leu112Ile Uncertain significance Single submitter
- ARL6IP6 p.Leu121Ile Uncertain significance Single submitter
- ARL6IP6 p.Leu55Arg Uncertain significance Single submitter
- ARL6IP6 p.Leu55Val Uncertain significance Single submitter
- ARL6IP6 p.Lys69Arg Uncertain significance Single submitter
- ARL6IP6 p.Pro20Leu Uncertain significance Single submitter
- ARL6IP6 p.Pro67Leu Uncertain significance Single submitter
- ARL6IP6 p.Pro75Ser Uncertain significance Single submitter
- ARL6IP6 p.Ser114Leu Uncertain significance Single submitter
- ARL6IP6 p.Ser29Phe Uncertain significance Single submitter
- ARL6IP6 p.Ser30Phe Uncertain significance Single submitter
- ARL6IP6 p.Ser71Leu Uncertain significance Single submitter
- ARL6IP6 p.Ser71Trp Uncertain significance Single submitter
- ARL6IP6 p.Val108Phe Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ARL6IP6 p.Ile111Thr Uncertain significance Single submitter
- ARL6IP6 p.Pro182Ala Uncertain significance Single submitter
- ARL6IP6 p.Ser179Phe Uncertain significance Single submitter
- ARL6IP6 p.Ser202Cys Uncertain significance Single submitter
- ARL6IP6 p.Tyr207Cys Uncertain significance Single submitter
- ARL6IP6 p.Val216Leu Uncertain significance Single submitter
All ARL6IP6 variants
Likely pathogenic 1
- p.Leu125Phe Single submitter Bardet-Biedl syndrome ⚠
Benign 2
- p.Arg56Leu Multiple submitters
- c.401-8A>G Single submitter
Uncertain significance 38
- p.Ala193Thr Single submitter ⚠
- p.Ala52Pro Single submitter
- p.Ala93Ser Single submitter ⚠
- p.Ala99Val Single submitter ⚠
- p.Arg103Trp Single submitter ⚠
- p.Arg56Gly Single submitter ⚠
- p.Arg70Pro Single submitter ⚠
- p.Asn88Thr Single submitter ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp49His Single submitter ⚠
- p.Gln100His Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Gly16Ser Single submitter ⚠
- p.Gly96Cys Single submitter ⚠
- p.Ile111Ser Single submitter ⚠
- p.Ile111Thr Single submitter ⚠
- p.Leu112Ile Single submitter ⚠
- p.Leu121Ile Single submitter ⚠
- p.Leu55Arg Single submitter ⚠
- p.Leu55Val Single submitter ⚠
- p.Lys69Arg Single submitter ⚠
- p.Pro182Ala Single submitter ⚠
- p.Pro192Ser Single submitter
- p.Pro20Leu Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Pro75Ser Single submitter ⚠
- p.Ser114Leu Single submitter ⚠
- p.Ser179Phe Single submitter ⚠
- p.Ser202Cys Single submitter ⚠
- p.Ser29Phe Single submitter ⚠
- p.Ser2Leu Single submitter
- p.Ser30Phe Single submitter ⚠
- p.Ser71Leu Single submitter ⚠
- p.Ser71Trp Single submitter ⚠
- p.Tyr207Cys Single submitter ⚠
- p.Val108Phe Single submitter ⚠
- p.Val216Leu Single submitter ⚠
- p.Trp64Ter No assertion criteria