AMACR — 281 ClinVar variants
All ClinVar germline AMACR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 13 Conflicting · 15 Benign · 6 Benign/Likely benign · 98 Likely benign · 146 Uncertain significance
Full AMACR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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.
-
AMACR p.Val185Ala
Conflicting
Single submitter
alpha-methylacyl-CoA racemase deficiency
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
AMACR p.Ala15Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Ala189Glu
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Arg106Lys
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Arg326Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Asp322Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Gly137Asp
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly209Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Ile180Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Lys50Arg
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Met212Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Pro146Leu
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Pro296Leu
Uncertain significance
Multiple submitters
AMACR-related disorder
-
AMACR p.Thr172Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Ala154Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Ala15Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ala235Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Arg342Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Arg40Pro
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Asn376Tyr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Asp123Asn
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Asp181Tyr
Uncertain significance
Single submitter
spastic ataxia
-
AMACR p.Asp273Ala
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Asp343Tyr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gln321Glu
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Glu237Gly
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly13Arg
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly13Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly215Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Ile346Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ile353Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ile372Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Leu107Met
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Leu127Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Leu332Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
- AMACR p.Leu57Arg Uncertain significance Single submitter
-
AMACR p.Leu77Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Leu95Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Lys246Arg
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Met267Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Met85Ile
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Met85Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Phe275Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Phe80Leu
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ser115Gly
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ser260Asn
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ser7Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Val274Ile
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Val323Leu
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Val43Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Val43Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Val75Leu
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Arg40Gly
Uncertain significance
No assertion criteria
AMACR-related disorder
-
AMACR p.Arg97Gln
Uncertain significance
No assertion criteria
AMACR-related disorder
Predictors split 64
The independent predictors disagree with each other — read with care.
-
AMACR p.Arg171Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Arg171His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Arg173Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Arg36Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Arg68Leu
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Glu351Lys
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly175Asp
Benign
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly289Ser
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly313Ser
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.His349Asp
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Met85Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Pro238Ser
Benign
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ser375Gly
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Thr188Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AMACR p.Thr221Met
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Thr334Ile
Uncertain significance
Multiple submitters
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Val9Met
Benign
Multiple submitters
congenital bile acid synthesis defect 4
-
AMACR p.Ala15Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Ala182Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ala206Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ala206Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Ala2Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
- AMACR p.Ala328Val Uncertain significance Single submitter
-
AMACR p.Arg118Trp
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Arg173Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Arg312Trp
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Arg361His
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Arg68Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Asn309Ser
Likely benign
Single submitter
Inborn genetic diseases
- AMACR p.Asp262Val Uncertain significance Single submitter
-
AMACR p.Glu141Asp
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Glu141Lys
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Glu242Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Gly140Asp
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly157Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Gly358Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Gly47Cys
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Gly5Ser
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ile124Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ile364Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Leu201Trp
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Lys269Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Lys270Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Lys270Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Met159Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Met259Val
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Phe169Ser
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Phe315Tyr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Phe357Ser
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Pro265Thr
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Pro335Ser
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ser7Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Thr174Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AMACR p.Thr279Met Uncertain significance Single submitter
- AMACR p.Thr317Asn Uncertain significance Single submitter
- AMACR p.Thr350Asn Uncertain significance Single submitter
-
AMACR p.Val304Phe
Uncertain significance
Single submitter
AMACR-related disorder
-
AMACR p.Val323Met
Conflicting
Single submitter
Inborn genetic diseases
-
AMACR p.Val34Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Val54Leu
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Val54Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
AMACR p.Val65Met
Uncertain significance
Single submitter
alpha-methylacyl-CoA racemase deficiency
-
AMACR p.Ile353Leu
Uncertain significance
No assertion criteria
AMACR-related disorder
-
AMACR p.Phe300Ser
Uncertain significance
No assertion criteria
AMACR-related disorder
All AMACR variants
Pathogenic 1
- p.Leu107Pro No assertion criteria congenital bile acid synthesis defect 4
Likely pathogenic 2
- c.740-12_740-2delinsTGGACTTGGACTT Single submitter
- p.Gly215fs Single submitter Inborn genetic diseases
Conflicting classifications of pathogenicity 13
- c.247+8C>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.247+9G>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.553-5C>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.740-5C>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.-22C>G Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Arg81= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Arg97= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.His122= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Leu147= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Pro16= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Pro238= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Val185Ala Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Val323Met Single submitter Inborn genetic diseases ⚠
Benign 15
- c.247+169T>G Multiple submitters
- c.247+219C>T Multiple submitters
- c.392-52T>A Multiple submitters
- p.Arg118Gln Multiple submitters alpha-methylacyl-CoA racemase deficiency
- p.Glu277Lys Multiple submitters alpha-methylacyl-CoA racemase deficiency
- p.Gly175Asp Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Leu201Ser Multiple submitters alpha-methylacyl-CoA racemase deficiency
- p.Pro238Ser Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Val9Met Multiple submitters congenital bile acid synthesis defect 4 ⚠
- c.248-18C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-199C>T Single submitter
- c.391+299T>C Single submitter
- c.392-16G>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.553-147C>T Single submitter
- c.*1727G>T Single submitter alpha-methylacyl-CoA racemase deficiency
Benign/Likely benign 6
- c.*1070C>T Multiple submitters
- c.*227T>G Multiple submitters
- c.*617G>T Multiple submitters congenital bile acid synthesis defect 4
- c.*663G>A Multiple submitters congenital bile acid synthesis defect 4
- p.Pro146= Multiple submitters alpha-methylacyl-CoA racemase deficiency
- p.Thr279= Multiple submitters alpha-methylacyl-CoA racemase deficiency
Likely benign 98
- c.247+13C>G Multiple submitters alpha-methylacyl-CoA racemase deficiency
- c.391+12A>T Multiple submitters alpha-methylacyl-CoA racemase deficiency
- c.391+51C>A Multiple submitters
- c.739+16G>A Multiple submitters alpha-methylacyl-CoA racemase deficiency
- c.*982C>T Multiple submitters
- p.Ala281= Multiple submitters alpha-methylacyl-CoA racemase deficiency
- p.Gly187= Multiple submitters Inborn genetic diseases
- p.Gly209= Multiple submitters Inborn genetic diseases
- p.Leu195= Multiple submitters Inborn genetic diseases
- p.Tyr241= Multiple submitters Inborn genetic diseases
- c.247+12C>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.247+14C>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.247+15C>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.247+18G>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.247+26C>T Single submitter
- c.247+7C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.247+8C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-16T>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-17G>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-18C>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-22_248-20del Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-4T>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-60A>G Single submitter
- c.248-7T>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.248-92G>C Single submitter
- c.392-20A>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.552+10A>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.552+12T>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.552+14G>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.552+16G>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.552+18T>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.552+77AGA[2] Single submitter
- c.553-13T>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.553-14C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.553-4A>G Single submitter
- c.553-5C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.739+13C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.739+15C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.739+17C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.739+242G>A Single submitter
- c.739+7G>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.740-13_740-12insTGG Single submitter alpha-methylacyl-CoA racemase deficiency
- c.740-17A>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.740-5del Single submitter alpha-methylacyl-CoA racemase deficiency
- c.740-8T>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1203A>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*13C>T Single submitter
- c.*1928T>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*449T>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*752C>T Single submitter
- c.*976G>A Single submitter
- p.Ala15= Single submitter
- p.Ala154= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ala189= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ala235= Single submitter Inborn genetic diseases
- p.Arg173= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Arg326= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Arg342= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Arg61= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Arg68= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Asn309Ser Single submitter Inborn genetic diseases ⚠
- p.Asp152= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Asp227= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Asp288= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Asp74= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Cys293= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Gln258= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Gln59= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Glu319= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Gly13= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Gly17= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Gly313= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.His306= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ile353= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Leu11= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Leu203= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Leu244= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Leu88= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Leu90= Single submitter
- p.Leu95= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Phe194= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Pro143= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Pro296= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Pro325= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Pro344= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Pro60= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ser314= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ser339= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Thr188= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Thr198= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Thr334= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Tyr223= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Tyr41= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Val84= Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ala292= No assertion criteria AMACR-related disorder
- p.Arg36= No assertion criteria AMACR-related disorder
- p.Leu3= No assertion criteria AMACR-related disorder
- p.Leu331= No assertion criteria AMACR-related disorder
Uncertain significance 146
- c.*233T>C Multiple submitters alpha-methylacyl-CoA racemase deficiency
- p.Ala15Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala189Glu Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Arg106Lys Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Arg171Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg171His Multiple submitters Inborn genetic diseases ⚠
- p.Arg173Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg326Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg36Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg68Leu Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Asp322Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu351Lys Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly137Asp Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly209Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly289Ser Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly313Ser Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.His349Asp Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ile180Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys50Arg Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Met212Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met85Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro146Leu Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Pro296Leu Multiple submitters AMACR-related disorder ⚠
- p.Ser375Gly Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Thr172Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr188Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr221Met Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Thr334Ile Multiple submitters alpha-methylacyl-CoA racemase deficiency ⚠
- p.Val43Arg Multiple submitters alpha-methylacyl-CoA racemase deficiency
- c.391+3A>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.552+4A>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.553-1G>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.553-3A>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.553-8T>C Single submitter
- c.740-2del Single submitter alpha-methylacyl-CoA racemase deficiency
- c.740-3C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1032G>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1110G>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1178G>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1367T>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1560G>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1853G>A Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1931G>C Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*1942C>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*2088A>T Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*2093A>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*439A>G Single submitter alpha-methylacyl-CoA racemase deficiency
- c.*774A>G Single submitter Inborn genetic diseases
- c.*805C>A Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ala154Pro Single submitter Inborn genetic diseases ⚠
- p.Ala15fs Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ala15Ser Single submitter Inborn genetic diseases ⚠
- p.Ala15Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ala182Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ala206Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ala206Val Single submitter Inborn genetic diseases ⚠
- p.Ala235Val Single submitter Inborn genetic diseases ⚠
- p.Ala2Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ala328Val Single submitter ⚠
- p.Arg118Trp Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Arg173Leu Single submitter Inborn genetic diseases ⚠
- p.Arg312Trp Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Arg342Thr Single submitter Inborn genetic diseases ⚠
- p.Arg361His Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Arg40Pro Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Arg68Cys Single submitter Inborn genetic diseases ⚠
- p.Asn376Tyr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Asp123Asn Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Asp181Tyr Single submitter spastic ataxia ⚠
- p.Asp262Val Single submitter ⚠
- p.Asp273Ala Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Asp343Tyr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gln321Glu Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gln89Ter Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Glu141Asp Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Glu141Lys Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Glu237Gly Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Glu242Lys Single submitter Inborn genetic diseases ⚠
- p.Gly121Phe Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Gly13Arg Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly13Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly140Asp Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly157Ala Single submitter Inborn genetic diseases ⚠
- p.Gly215Asp Single submitter Inborn genetic diseases ⚠
- p.Gly358Glu Single submitter Inborn genetic diseases ⚠
- p.Gly47Cys Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly5Ser Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Gly62Ter Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ile124Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ile346Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ile353Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ile364Met Single submitter Inborn genetic diseases ⚠
- p.Ile372Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Leu107Met Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Leu127Ser Single submitter Inborn genetic diseases ⚠
- p.Leu191Ter Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Leu201= Single submitter
- p.Leu201Trp Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Leu332Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Leu57Arg Single submitter ⚠
- p.Leu77Gln Single submitter Inborn genetic diseases ⚠
- p.Leu95Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Lys246Arg Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Lys269Gln Single submitter Inborn genetic diseases ⚠
- p.Lys270Asn Single submitter Inborn genetic diseases ⚠
- p.Lys270Met Single submitter Inborn genetic diseases ⚠
- p.Met159Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Met1Leu Single submitter
- p.Met259Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Met267Val Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Met85_Leu88delinsIle Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Met85Ile Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Met85Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Phe169Ser Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Phe275Ser Single submitter Inborn genetic diseases ⚠
- p.Phe315Tyr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Phe357Ser Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Phe80Leu Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Pro265Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Pro335Ser Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ser115_Gly121del Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Ser115Gly Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ser260Asn Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ser7Thr Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Ser7Trp Single submitter Inborn genetic diseases ⚠
- p.Ter383Tyr Single submitter
- p.Thr174Ala Single submitter Inborn genetic diseases ⚠
- p.Thr279Met Single submitter ⚠
- p.Thr317Asn Single submitter ⚠
- p.Thr350Asn Single submitter ⚠
- p.Trp283Ter Single submitter alpha-methylacyl-CoA racemase deficiency
- p.Val274Ile Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Val304Phe Single submitter AMACR-related disorder ⚠
- p.Val323Leu Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Val34Leu Single submitter Inborn genetic diseases ⚠
- p.Val43Gly Single submitter Inborn genetic diseases ⚠
- p.Val43Met Single submitter Inborn genetic diseases ⚠
- p.Val54Leu Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Val54Met Single submitter Inborn genetic diseases ⚠
- p.Val65Met Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Val75Leu Single submitter alpha-methylacyl-CoA racemase deficiency ⚠
- p.Arg40Gly No assertion criteria AMACR-related disorder ⚠
- p.Arg97Gln No assertion criteria AMACR-related disorder ⚠
- p.Asp291Gly No assertion criteria AMACR-related disorder
- p.Ile353Leu No assertion criteria AMACR-related disorder ⚠
- p.Phe300Ser No assertion criteria AMACR-related disorder ⚠