FAAH2 — 118 ClinVar variants
All ClinVar germline FAAH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
2 Pathogenic · 3 Conflicting · 5 Benign · 12 Likely benign · 96 Uncertain significance
Full FAAH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FAAH2 p.Ala115Val Uncertain significance Single submitter
- FAAH2 p.Ala157Asp Uncertain significance Single submitter
- FAAH2 p.Ala161Thr Uncertain significance Single submitter
- FAAH2 p.Ala262Pro Uncertain significance Single submitter
- FAAH2 p.Ala280Ser Uncertain significance Single submitter
- FAAH2 p.Ala280Thr Uncertain significance Single submitter
- FAAH2 p.Ala37Val Uncertain significance Single submitter
- FAAH2 p.Ala493Thr Uncertain significance Single submitter
- FAAH2 p.Arg149His Uncertain significance Single submitter
- FAAH2 p.Arg149Leu Uncertain significance Single submitter
- FAAH2 p.Arg15Gly Uncertain significance Single submitter
- FAAH2 p.Arg26Gly Uncertain significance Single submitter
- FAAH2 p.Arg436His Uncertain significance Single submitter
- FAAH2 p.Asn147His Uncertain significance Single submitter
- FAAH2 p.Asn147Lys Uncertain significance Single submitter
- FAAH2 p.Asn147Ser Uncertain significance Single submitter
- FAAH2 p.Asp150Asn Uncertain significance Single submitter
- FAAH2 p.Asp445His Uncertain significance Single submitter
- FAAH2 p.Cys180Tyr Uncertain significance Single submitter
- FAAH2 p.Cys528Arg Uncertain significance Single submitter
- FAAH2 p.Gln358His Uncertain significance Single submitter
- FAAH2 p.Glu184Ala Uncertain significance Single submitter
- FAAH2 p.Gly211Asp Uncertain significance Single submitter
- FAAH2 p.Gly224Asp Uncertain significance Single submitter
- FAAH2 p.Gly342Arg Uncertain significance Single submitter
- FAAH2 p.Gly410Glu Uncertain significance Single submitter
- FAAH2 p.Gly447Arg Uncertain significance Single submitter
- FAAH2 p.Gly524Arg Uncertain significance Single submitter
- FAAH2 p.Gly530Arg Uncertain significance Single submitter
- FAAH2 p.His101Arg Uncertain significance Single submitter
- FAAH2 p.His312Asn Uncertain significance Single submitter
- FAAH2 p.His454Tyr Uncertain significance Single submitter
- FAAH2 p.Ile189Phe Uncertain significance Single submitter
- FAAH2 p.Ile85Val Uncertain significance Single submitter
- FAAH2 p.Ile9Val Uncertain significance Single submitter
- FAAH2 p.Leu145His Uncertain significance Single submitter
- FAAH2 p.Leu380Phe Uncertain significance Single submitter
- FAAH2 p.Leu381Pro Uncertain significance Single submitter
- FAAH2 p.Leu394Val Uncertain significance Single submitter
- FAAH2 p.Leu491Val Uncertain significance Single submitter
- FAAH2 p.Lys106Met Uncertain significance Single submitter
- FAAH2 p.Lys321Gln Uncertain significance Single submitter
- FAAH2 p.Lys417Asn Uncertain significance Single submitter
- FAAH2 p.Met146Leu Uncertain significance Single submitter
- FAAH2 p.Met146Val Uncertain significance Single submitter
- FAAH2 p.Met363Thr Uncertain significance Single submitter
- FAAH2 p.Phe237Ser Uncertain significance Single submitter
- FAAH2 p.Pro468Ser Uncertain significance Single submitter
- FAAH2 p.Pro488Ser Uncertain significance Single submitter
- FAAH2 p.Ser230Thr Uncertain significance Single submitter
- FAAH2 p.Thr522Ile Uncertain significance Single submitter
- FAAH2 p.Tyr404Cys Uncertain significance Single submitter
- FAAH2 p.Val249Met Uncertain significance Single submitter
- FAAH2 p.Val348Asp Uncertain significance Single submitter
- FAAH2 p.Lys460Thr Uncertain significance No assertion criteria
-
FAAH2 p.Pro43Ser
Uncertain significance
No assertion criteria
FAAH2-related disorder
-
FAAH2 p.Ser230Asn
Uncertain significance
No assertion criteria
FAAH2-related disorder
-
FAAH2 p.Val300Leu
Uncertain significance
No assertion criteria
FAAH2-related disorder
Predictors split 27
The independent predictors disagree with each other — read with care.
- FAAH2 p.Ala168Gly Uncertain significance Single submitter
- FAAH2 p.Asn194Ile Uncertain significance Single submitter
- FAAH2 p.Asp441Tyr Uncertain significance Single submitter
- FAAH2 p.Asp445Tyr Uncertain significance Single submitter
- FAAH2 p.Cys218Tyr Uncertain significance Single submitter
- FAAH2 p.Gln330His Uncertain significance Single submitter
- FAAH2 p.Gln72Pro Conflicting Single submitter
- FAAH2 p.Gly242Ala Uncertain significance Single submitter
- FAAH2 p.Gly261Arg Conflicting Single submitter
- FAAH2 p.Gly53Val Uncertain significance Single submitter
- FAAH2 p.Ile189Thr Uncertain significance Single submitter
- FAAH2 p.Leu294Ile Uncertain significance Single submitter
- FAAH2 p.Leu49Phe Uncertain significance Single submitter
- FAAH2 p.Lys494Ile Uncertain significance Single submitter
- FAAH2 p.Met139Ile Uncertain significance Single submitter
- FAAH2 p.Met282Thr Uncertain significance Single submitter
-
FAAH2 p.Met310Ile
Uncertain significance
Single submitter
FAAH2-related disorder
- FAAH2 p.Met353Ile Uncertain significance Single submitter
- FAAH2 p.Pro170Leu Uncertain significance Single submitter
- FAAH2 p.Pro407Arg Uncertain significance Single submitter
- FAAH2 p.Thr339Ile Uncertain significance Single submitter
- FAAH2 p.Trp309Arg Uncertain significance Single submitter
- FAAH2 p.Trp397Cys Uncertain significance Single submitter
- FAAH2 p.Tyr197His Uncertain significance Single submitter
- FAAH2 p.Tyr518Cys Uncertain significance Single submitter
- FAAH2 p.Val527Phe Uncertain significance Single submitter
- FAAH2 p.Ala458Ser Uncertain significance No assertion criteria
All FAAH2 variants
Pathogenic 2
- c.267_275+2del Single submitter
- p.Trp392Ter No assertion criteria Meckel-like syndrome
Conflicting classifications of pathogenicity 3
- p.Arg192Gln Single submitter ⚠
- p.Gln72Pro Single submitter ⚠
- p.Gly261Arg Single submitter ⚠
Benign 5
- c.1229-14A>T Multiple submitters
- p.Arg274= Multiple submitters
- p.Arg42Trp Multiple submitters
- p.Pro468= Multiple submitters
- p.Gly33= No assertion criteria FAAH2-related disorder
Likely benign 12
- p.Arg149Cys Single submitter
- p.Arg293= Single submitter
- p.Asp80= Single submitter
- p.Phe507Cys Single submitter
- p.Ser421Asn Single submitter
- c.275+3G>A No assertion criteria
- p.Ala362Thr No assertion criteria FAAH2-related disorder
- p.Asn195= No assertion criteria FAAH2-related disorder
- p.Glu432Ter No assertion criteria FAAH2-related disorder
- p.Gly495Arg No assertion criteria FAAH2-related disorder
- p.Lys164= No assertion criteria FAAH2-related disorder
- p.Thr466= No assertion criteria FAAH2-related disorder
Uncertain significance 96
- c.623-1358_742+4935del Single submitter
- c.742+5T>A Single submitter
- p.Ala115Val Single submitter ⚠
- p.Ala157Asp Single submitter ⚠
- p.Ala161Thr Single submitter ⚠
- p.Ala168Gly Single submitter ⚠
- p.Ala168Thr Single submitter
- p.Ala217Thr Single submitter
- p.Ala262Pro Single submitter ⚠
- p.Ala280Ser Single submitter ⚠
- p.Ala280Thr Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala493Thr Single submitter ⚠
- p.Ala504Thr Single submitter
- p.Arg149His Single submitter ⚠
- p.Arg149Leu Single submitter ⚠
- p.Arg15Gly Single submitter ⚠
- p.Arg26Gly Single submitter ⚠
- p.Arg436His Single submitter ⚠
- p.Asn147His Single submitter ⚠
- p.Asn147Lys Single submitter ⚠
- p.Asn147Ser Single submitter ⚠
- p.Asn194Ile Single submitter ⚠
- p.Asp150Asn Single submitter ⚠
- p.Asp156Asn Single submitter
- p.Asp441Tyr Single submitter ⚠
- p.Asp445His Single submitter ⚠
- p.Asp445Tyr Single submitter ⚠
- p.Cys180Tyr Single submitter ⚠
- p.Cys218Tyr Single submitter ⚠
- p.Cys528Arg Single submitter ⚠
- p.Gln330His Single submitter ⚠
- p.Gln358His Single submitter ⚠
- p.Glu184Ala Single submitter ⚠
- p.Gly211Asp Single submitter ⚠
- p.Gly224Asp Single submitter ⚠
- p.Gly242Ala Single submitter ⚠
- p.Gly248Val Single submitter
- p.Gly288Glu Single submitter
- p.Gly342Arg Single submitter ⚠
- p.Gly410Glu Single submitter ⚠
- p.Gly447Arg Single submitter ⚠
- p.Gly495Glu Single submitter
- p.Gly524Arg Single submitter ⚠
- p.Gly530Arg Single submitter ⚠
- p.Gly53Val Single submitter ⚠
- p.His101Arg Single submitter ⚠
- p.His312Asn Single submitter ⚠
- p.His454Tyr Single submitter ⚠
- p.Ile189Phe Single submitter ⚠
- p.Ile189Thr Single submitter ⚠
- p.Ile409Thr Single submitter
- p.Ile85Val Single submitter ⚠
- p.Ile9Val Single submitter ⚠
- p.Leu145His Single submitter ⚠
- p.Leu294Ile Single submitter ⚠
- p.Leu380Phe Single submitter ⚠
- p.Leu381Pro Single submitter ⚠
- p.Leu394Val Single submitter ⚠
- p.Leu491Val Single submitter ⚠
- p.Leu49Phe Single submitter ⚠
- p.Lys106Met Single submitter ⚠
- p.Lys321Gln Single submitter ⚠
- p.Lys417Asn Single submitter ⚠
- p.Lys494Ile Single submitter ⚠
- p.Lys66fs Single submitter
- p.Met139Ile Single submitter ⚠
- p.Met146Leu Single submitter ⚠
- p.Met146Val Single submitter ⚠
- p.Met282Thr Single submitter ⚠
- p.Met310Ile Single submitter FAAH2-related disorder ⚠
- p.Met353Ile Single submitter ⚠
- p.Met363Thr Single submitter ⚠
- p.Phe237Ser Single submitter ⚠
- p.Pro170Leu Single submitter ⚠
- p.Pro407Arg Single submitter ⚠
- p.Pro468Ser Single submitter ⚠
- p.Pro488Ser Single submitter ⚠
- p.Ser230Thr Single submitter ⚠
- p.Thr339Ile Single submitter ⚠
- p.Thr522Ile Single submitter ⚠
- p.Trp309Arg Single submitter ⚠
- p.Trp309Ter Single submitter FAAH2-related disorder
- p.Trp397Cys Single submitter ⚠
- p.Tyr197His Single submitter ⚠
- p.Tyr404Cys Single submitter ⚠
- p.Tyr518Cys Single submitter ⚠
- p.Val249Met Single submitter ⚠
- p.Val348Asp Single submitter ⚠
- p.Val527Phe Single submitter ⚠
- p.Ala458Ser No assertion criteria ⚠
- p.Leu145fs No assertion criteria FAAH2-related disorder
- p.Lys460Thr No assertion criteria ⚠
- p.Pro43Ser No assertion criteria FAAH2-related disorder ⚠
- p.Ser230Asn No assertion criteria FAAH2-related disorder ⚠
- p.Val300Leu No assertion criteria FAAH2-related disorder ⚠