ALAS1 — 75 ClinVar variants
All ClinVar germline ALAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
1 Benign · 2 Likely benign · 72 Uncertain significance
Full ALAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ALAS1 p.Ala112Thr Uncertain significance Single submitter
- ALAS1 p.Ala44Val Uncertain significance Single submitter
- ALAS1 p.Arg347Leu Uncertain significance Single submitter
- ALAS1 p.Arg498Trp Uncertain significance Single submitter
- ALAS1 p.Asp208Glu Uncertain significance Single submitter
- ALAS1 p.Gln198Arg Uncertain significance Single submitter
- ALAS1 p.Gly103Asp Uncertain significance Single submitter
- ALAS1 p.Gly119Asp Uncertain significance Single submitter
- ALAS1 p.Gly160Arg Uncertain significance Single submitter
- ALAS1 p.Gly279Ser Uncertain significance Single submitter
- ALAS1 p.Gly389Glu Uncertain significance Single submitter
- ALAS1 p.His290Arg Uncertain significance Single submitter
- ALAS1 p.Ile207Thr Uncertain significance Single submitter
- ALAS1 p.Ile343Thr Uncertain significance Single submitter
- ALAS1 p.Leu364Phe Uncertain significance Single submitter
- ALAS1 p.Leu394Pro Uncertain significance Single submitter
- ALAS1 p.Leu515Pro Uncertain significance Single submitter
- ALAS1 p.Leu91Pro Uncertain significance Single submitter
- ALAS1 p.Lys353Met Uncertain significance Single submitter
- ALAS1 p.Lys42Thr Uncertain significance Single submitter
- ALAS1 p.Met231Val Uncertain significance Single submitter
- ALAS1 p.Met267Leu Uncertain significance Single submitter
- ALAS1 p.Met387Thr Uncertain significance Single submitter
- ALAS1 p.Met511Arg Uncertain significance Single submitter
- ALAS1 p.Phe203Ser Uncertain significance Single submitter
- ALAS1 p.Pro191Thr Uncertain significance Single submitter
- ALAS1 p.Pro230Ser Uncertain significance Single submitter
- ALAS1 p.Pro43Ser Uncertain significance Single submitter
- ALAS1 p.Pro45Thr Uncertain significance Single submitter
- ALAS1 p.Pro479Ala Uncertain significance Single submitter
- ALAS1 p.Pro576Leu Uncertain significance Single submitter
- ALAS1 p.Pro63Leu Uncertain significance Single submitter
- ALAS1 p.Ser127Ile Uncertain significance Single submitter
- ALAS1 p.Ser334Ala Uncertain significance Single submitter
- ALAS1 p.Ser630Leu Uncertain significance Single submitter
- ALAS1 p.Thr104Pro Uncertain significance Single submitter
- ALAS1 p.Thr147Ala Uncertain significance Single submitter
- ALAS1 p.Thr215Ser Uncertain significance Single submitter
- ALAS1 p.Thr241Ser Uncertain significance Single submitter
- ALAS1 p.Thr475Ile Uncertain significance Single submitter
- ALAS1 p.Thr579Arg Uncertain significance Single submitter
- ALAS1 p.Trp594Leu Uncertain significance Single submitter
- ALAS1 p.Tyr253His Uncertain significance Single submitter
- ALAS1 p.Val140Leu Uncertain significance Single submitter
- ALAS1 p.Val194Phe Uncertain significance Single submitter
- ALAS1 p.Val262Met Uncertain significance Single submitter
- ALAS1 p.Val464Ile Uncertain significance Single submitter
- ALAS1 p.Val555Met Uncertain significance Single submitter
- ALAS1 p.Val5Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- ALAS1 p.Arg13Gln Benign Multiple submitters
- ALAS1 p.Arg261Trp Uncertain significance Single submitter
- ALAS1 p.Arg506Cys Uncertain significance Single submitter
- ALAS1 p.Arg506Gly Uncertain significance Single submitter
- ALAS1 p.Arg533Gln Uncertain significance Single submitter
- ALAS1 p.Asp213Asn Uncertain significance Single submitter
- ALAS1 p.Asp372His Uncertain significance Single submitter
- ALAS1 p.Cys525Gly Uncertain significance Single submitter
- ALAS1 p.Cys612Gly Uncertain significance Single submitter
- ALAS1 p.Gly519Ser Uncertain significance Single submitter
- ALAS1 p.His577Arg Uncertain significance Single submitter
- ALAS1 p.Ile454Val Uncertain significance Single submitter
- ALAS1 p.Ile491Thr Uncertain significance Single submitter
- ALAS1 p.Ile553Met Uncertain significance Single submitter
- ALAS1 p.Leu510Phe Uncertain significance Single submitter
- ALAS1 p.Lys325Thr Uncertain significance Single submitter
- ALAS1 p.Pro9Ala Uncertain significance Single submitter
- ALAS1 p.Ser238Tyr Uncertain significance Single submitter
- ALAS1 p.Thr593Ile Uncertain significance Single submitter
- ALAS1 p.Val391Met Uncertain significance Single submitter
All ALAS1 variants
Benign 1
- p.Arg13Gln Multiple submitters ⚠
Likely benign 2
- p.Arg201His Single submitter
- p.Arg422Gln Single submitter
Uncertain significance 72
- p.Ala112Thr Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Arg261Trp Single submitter ⚠
- p.Arg347Leu Single submitter ⚠
- p.Arg498Trp Single submitter ⚠
- p.Arg506Cys Single submitter ⚠
- p.Arg506Gly Single submitter ⚠
- p.Arg533Gln Single submitter ⚠
- p.Asp208Glu Single submitter ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp234Asn Single submitter
- p.Asp372His Single submitter ⚠
- p.Cys525Gly Single submitter ⚠
- p.Cys612Gly Single submitter ⚠
- p.Gln198Arg Single submitter ⚠
- p.Gly103Asp Single submitter ⚠
- p.Gly119Asp Single submitter ⚠
- p.Gly160Arg Single submitter ⚠
- p.Gly279Ser Single submitter ⚠
- p.Gly389Glu Single submitter ⚠
- p.Gly519Ser Single submitter ⚠
- p.His290Arg Single submitter ⚠
- p.His577Arg Single submitter ⚠
- p.Ile207Thr Single submitter ⚠
- p.Ile343Thr Single submitter ⚠
- p.Ile454Val Single submitter ⚠
- p.Ile491Thr Single submitter ⚠
- p.Ile553Met Single submitter ⚠
- p.Ile558Val Single submitter
- p.Leu364Phe Single submitter ⚠
- p.Leu394Pro Single submitter ⚠
- p.Leu510Phe Single submitter ⚠
- p.Leu515Pro Single submitter ⚠
- p.Leu91Pro Single submitter ⚠
- p.Lys325Thr Single submitter ⚠
- p.Lys353Met Single submitter ⚠
- p.Lys42Thr Single submitter ⚠
- p.Met137Thr Single submitter
- p.Met231Val Single submitter ⚠
- p.Met267Leu Single submitter ⚠
- p.Met387Thr Single submitter ⚠
- p.Met511Arg Single submitter ⚠
- p.Phe203Ser Single submitter ⚠
- p.Pro191Thr Single submitter ⚠
- p.Pro230Ser Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro45Thr Single submitter ⚠
- p.Pro479Ala Single submitter ⚠
- p.Pro576Leu Single submitter ⚠
- p.Pro63Leu Single submitter ⚠
- p.Pro9Ala Single submitter ⚠
- p.Ser127Ile Single submitter ⚠
- p.Ser238Tyr Single submitter ⚠
- p.Ser334Ala Single submitter ⚠
- p.Ser630Leu Single submitter ⚠
- p.Thr104Pro Single submitter ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr215Ser Single submitter ⚠
- p.Thr241Ser Single submitter ⚠
- p.Thr475Ile Single submitter ⚠
- p.Thr579Arg Single submitter ⚠
- p.Thr593Ile Single submitter ⚠
- p.Trp594Leu Single submitter ⚠
- p.Tyr253His Single submitter ⚠
- p.Val140Leu Single submitter ⚠
- p.Val194Phe Single submitter ⚠
- p.Val262Met Single submitter ⚠
- p.Val391Met Single submitter ⚠
- p.Val464Ile Single submitter ⚠
- p.Val508Ile Single submitter
- p.Val555Met Single submitter ⚠
- p.Val5Ile Single submitter ⚠