CYP27A1 — 1146 ClinVar variants

All ClinVar germline CYP27A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 427 flagged for review →

85 Pathogenic · 50 Pathogenic/Likely pathogenic · 63 Likely pathogenic · 76 Conflicting · 18 Benign · 8 Benign/Likely benign · 424 Likely benign · 422 Uncertain significance

Full CYP27A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 427

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 2

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

CYP27A1 p.Lys259Arg Pathogenic/Likely pathogenic Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Asp354Gly Pathogenic No assertion criteria
cerebrotendinous xanthomatosis

Predictors agree, ClinVar conflicts 21

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

CYP27A1 p.Ala172Val Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Ala491Thr Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg137Trp Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg479Gly Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn403Lys Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn519Ser Conflicting Single submitter
CYP27A1-related disorder
CYP27A1 p.Asp176Gly Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asp183Asn Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu291Lys Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Gly145Arg Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly19Ser Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly472Ala Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.His377Arg Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Leu351Arg Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu394Pro Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Met486Leu Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Met95Val Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Pro458Leu Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Trp268Arg Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Tyr471Phe Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Val238Met Conflicting Single submitter
cerebrotendinous xanthomatosis

Predictors lean, ClinVar uncertain 200

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 200

CYP27A1 p.Ala111Gly Uncertain significance Multiple submitters
Premature coronary artery atherosclerosis
CYP27A1 p.Ala29Thr Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Ala7Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg158Cys Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg225Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg225Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg262His Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg323Gln Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg448Ser Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg513Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg53Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Asp129Asn Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Asp141Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Asp38Val Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Asp434Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Asp434His Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Cys21Trp Uncertain significance Multiple submitters
CYP27A1 p.Cys228Arg Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Gln139Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Gln530Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Gln65Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Gln83Glu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Glu359Gln Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Glu392Ala Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.His152Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Ile514Thr Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Ile514Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Leu142Pro Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Leu157Pro Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Leu361Phe Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Leu516Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Leu81Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Lys284Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Lys28Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Lys387Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Met205Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Met293Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Met326Val Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Met383Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Met97Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Phe416Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Pro146Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Pro263Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Pro44Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Pro518Arg Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Ser37Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Thr148Ser Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Thr187Ala Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Thr457Ala Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Tyr210His Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Val241Ile Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Val307Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Val425Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Ala111Asp Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala160Thr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala177Val Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala25Gly Uncertain significance Single submitter
CYP27A1 p.Ala325Val Uncertain significance Single submitter
CYP27A1 p.Ala33Thr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala360Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala381Val Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Ala437Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala491Glu Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Ala78Gly Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg158His Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg158Leu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg188Pro Uncertain significance Single submitter
CYP27A1 p.Arg18Gly Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg18Leu Uncertain significance Single submitter
CYP27A1 p.Arg231Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg448Leu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg480Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg513Gly Uncertain significance Single submitter
CYP27A1 p.Arg51Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg51Gly Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg51Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg53Gly Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg53Trp Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg67His Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn128Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn200Ser Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Asn250Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn403Asp Uncertain significance Single submitter
CYP27A1 p.Asn421Asp Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Asp273His Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Asp287Asn Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asp338Val Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Asp354Asn Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asp38His Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Cys21Arg Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Cys476Tyr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Cys531Gly Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln207Lys Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gln249Leu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln306Arg Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln373Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln445Arg Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln461His Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gln525His Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gln75Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln80Glu Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Glu131Asp Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Glu180Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu223Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu235Ala Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Glu363Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu392Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu392Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly19Ala Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly19Val Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly245Ala Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly274Ala Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly42Arg Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly465Asp Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly470Val Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly472Glu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly478Ser Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gly47Arg Uncertain significance Single submitter
CYP27A1 p.Gly523Cys Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gly523Ser Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.His105Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.His136Gln Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.His140Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.His152Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.His23Arg Uncertain significance Single submitter
CYP27A1 p.His23Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.His312Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ile220Asn Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ile226Val Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Ile233Thr Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Ile305Thr Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Ile411Thr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ile60Val Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Leu113Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu214Phe Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Leu257Phe Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu265Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu290Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu311Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu332Arg Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu344Gln Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Leu35Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu450Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu488Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu489His Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu489Pro Uncertain significance Single submitter
CYP27A1 p.Lys289Thr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Lys28Asn Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Lys409Asn Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Lys520Arg Uncertain significance Single submitter
cerebrotendinous xanthomatosis

Predictors split 204

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 204

CYP27A1 p.Ala169Val Benign/Likely benign Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Ala197Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Ala295Val Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg127Trp Pathogenic Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg137Gln Pathogenic/Likely pathogenic Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg193Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg225Cys Benign Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg262Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg270Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg270Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg323Trp Uncertain significance Multiple submitters
CYP27A1-related disorder
CYP27A1 p.Arg433Gln Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg433Trp Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg448His Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg479Cys Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Arg513Cys Pathogenic/Likely pathogenic Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg51Trp Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Arg62His Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Asn162His Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Gln75Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Gln83Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Glu223Gln Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Glu359Lys Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Glu507Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Gly245Arg Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Gly415Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.His23Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.His350Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.His362Arg Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.His362Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.His428Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Ile182Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Ile217Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Ile411Phe Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Leu161Val Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Leu173Phe Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Leu173Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Leu320Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Leu508Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Leu72Gln Uncertain significance Multiple submitters
CYP27A1-related disorder
CYP27A1 p.Lys123Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Lys134Thr Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Lys353Asn Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Lys498Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Lys520Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Met130Lys Likely pathogenic Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Phe68Cys Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Pro112Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Pro125Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Pro234Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Pro234Thr Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Pro435Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Pro503Leu Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Ser196Ile Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Ser352Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Ser37Trp Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Thr149Met Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Thr339Met Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Thr343Met Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Thr505Lys Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Tyr253Cys Uncertain significance Multiple submitters
cerebrotendinous xanthomatosis
CYP27A1 p.Tyr429Cys Uncertain significance Multiple submitters
CYP27A1-related disorder
CYP27A1 p.Tyr429Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Val126Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Val241Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
CYP27A1 p.Ala169Glu Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala169Gly Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala172Glu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala194Thr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala295Asp Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala295Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala34Asp Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Ala371Val Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala388Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala388Thr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala482Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala491Val Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala512Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ala78Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg10Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg119Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg119Trp Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg164Gln Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg164Pro Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg164Trp Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg188Gln Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg188Leu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg18Cys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg193Gln Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg225His Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg262Leu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg26Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg323Gly Likely benign Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg448Cys Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Arg479His Conflicting Single submitter
CYP27A1-related disorder
CYP27A1 p.Arg513His Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg62Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Arg67Cys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn179Lys Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Asn179Ser Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Asn276Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn276Thr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asn342Ser Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Asn342Thr Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Asp138His Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asp184Asn Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asp236Ala Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Asp236Asn Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Asp414Gly Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Cys21Tyr Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln487Arg Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gln525Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gln530Leu Uncertain significance Single submitter
CYP27A1 p.Glu115Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu115Gly Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu135Gly Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu235Lys Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu288Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu324Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu331Asp Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Glu359Ala Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Glu410Lys Uncertain significance Single submitter
CYP27A1 p.Glu59Lys Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly199Arg Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly367Val Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gly372Arg Conflicting Single submitter
Cardiovascular phenotype
CYP27A1 p.Gly372Trp Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly465Val Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly506Glu Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly5Asp Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Gly76Ala Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Gly93Ser Uncertain significance Single submitter
CYP27A1 p.His382Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ile182Thr Conflicting Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Ile357Ser Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Ile460Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu13Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu214Ser Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu290Phe Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu314Phe Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu315Met Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Leu396Val Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Leu450Val Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu493Met Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu4Gln Uncertain significance Single submitter
Cardiovascular phenotype
CYP27A1 p.Leu66Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu87Phe Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Leu9Pro Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Lys289Gln Uncertain significance Single submitter
cerebrotendinous xanthomatosis
CYP27A1 p.Lys496Glu Likely benign Single submitter
cerebrotendinous xanthomatosis

All CYP27A1 variants

Pathogenic 85

c.1184+1G>A Multiple submitters Cardiovascular phenotype
c.1185-1G>A Multiple submitters cerebrotendinous xanthomatosis
c.1185-1G>T Multiple submitters cerebrotendinous xanthomatosis
c.1263+1G>A Multiple submitters cerebrotendinous xanthomatosis
c.1263+5G>T Multiple submitters cerebrotendinous xanthomatosis
c.1264-1G>A Multiple submitters cerebrotendinous xanthomatosis
c.256-1G>T Multiple submitters cerebrotendinous xanthomatosis
c.256-2A>G Multiple submitters cerebrotendinous xanthomatosis
c.446+1G>A Multiple submitters cerebrotendinous xanthomatosis
c.446+1G>T Multiple submitters cerebrotendinous xanthomatosis
c.844+1G>A Multiple submitters cerebrotendinous xanthomatosis
c.844+1G>T Multiple submitters cerebrotendinous xanthomatosis
c.845-1G>A Multiple submitters cerebrotendinous xanthomatosis
c.845-2A>G Multiple submitters cerebrotendinous xanthomatosis
p.Arg127Gln Multiple submitters cerebrotendinous xanthomatosis
p.Arg127Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg188Ter Multiple submitters cerebrotendinous xanthomatosis
p.Arg231Ter Multiple submitters cerebrotendinous xanthomatosis
p.Arg270Ter Multiple submitters cerebrotendinous xanthomatosis
p.Arg474Gln Multiple submitters CYP27A1-related disorder
p.Arg8fs Multiple submitters cerebrotendinous xanthomatosis
p.Asp273fs Multiple submitters cerebrotendinous xanthomatosis
p.Gln159Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln249Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln296Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln445Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln461Ter Multiple submitters cerebrotendinous xanthomatosis
p.Lys284Ter Multiple submitters Cardiovascular phenotype
p.Pro102fs Multiple submitters cerebrotendinous xanthomatosis
c.1184+1G>C Single submitter cerebrotendinous xanthomatosis
c.1185-2A>T Single submitter cerebrotendinous xanthomatosis
c.1263+1G>T Single submitter cerebrotendinous xanthomatosis
c.1263+2T>C Single submitter cerebrotendinous xanthomatosis
c.1477-2del Single submitter cerebrotendinous xanthomatosis
c.256-1G>C Single submitter cerebrotendinous xanthomatosis
c.647-1G>A Single submitter cerebrotendinous xanthomatosis
p.Ala169fs Single submitter cerebrotendinous xanthomatosis
p.Ala16fs Single submitter cerebrotendinous xanthomatosis
p.Ala27fs Single submitter cerebrotendinous xanthomatosis
p.Ala2fs Single submitter cerebrotendinous xanthomatosis
p.Arg231fs Single submitter cerebrotendinous xanthomatosis
p.Arg433fs Single submitter cerebrotendinous xanthomatosis
p.Arg448fs Single submitter cerebrotendinous xanthomatosis
p.Arg479Ser Single submitter cerebrotendinous xanthomatosis
p.Arg480fs Single submitter cerebrotendinous xanthomatosis
p.Asn179fs Single submitter cerebrotendinous xanthomatosis
p.Cys218Ter Single submitter cerebrotendinous xanthomatosis
p.Gln116Ter Single submitter cerebrotendinous xanthomatosis
p.Gln191Ter Single submitter cerebrotendinous xanthomatosis
p.Gln358fs Single submitter cerebrotendinous xanthomatosis
p.Gln373fs Single submitter cerebrotendinous xanthomatosis
p.Gln85fs Single submitter cerebrotendinous xanthomatosis
p.Gln85Ter Single submitter cerebrotendinous xanthomatosis
p.Glu215Ter Single submitter cerebrotendinous xanthomatosis
p.Glu223Ter Single submitter cerebrotendinous xanthomatosis
p.Glu235fs Single submitter cerebrotendinous xanthomatosis
p.Glu291Ter Single submitter Cardiovascular phenotype
p.Glu363Ter Single submitter cerebrotendinous xanthomatosis
p.Lys259fs Single submitter
p.Lys39Ter Single submitter cerebrotendinous xanthomatosis
p.Phe185fs Single submitter cerebrotendinous xanthomatosis
p.Phe240fs Single submitter cerebrotendinous xanthomatosis
p.Phe256fs Single submitter cerebrotendinous xanthomatosis
p.Phe380fs Single submitter cerebrotendinous xanthomatosis
p.Phe444fs Single submitter cerebrotendinous xanthomatosis
p.Pro463fs Single submitter cerebrotendinous xanthomatosis
p.Ser251Ter Single submitter cerebrotendinous xanthomatosis
p.Thr143fs Single submitter cerebrotendinous xanthomatosis
p.Trp260Ter Single submitter cerebrotendinous xanthomatosis
p.Trp346Ter Single submitter cerebrotendinous xanthomatosis
p.Tyr155Ter Single submitter cerebrotendinous xanthomatosis
p.Tyr219fs Single submitter cerebrotendinous xanthomatosis
p.Tyr271Ter Single submitter cerebrotendinous xanthomatosis
p.Tyr397Ter Single submitter cerebrotendinous xanthomatosis
p.Val368fs Single submitter cerebrotendinous xanthomatosis
p.Val473fs Single submitter cerebrotendinous xanthomatosis
c.647-1G>T No assertion criteria cerebrotendinous xanthomatosis
p.Ala25fs No assertion criteria cerebrotendinous xanthomatosis
p.Asp354Gly No assertion criteria cerebrotendinous xanthomatosis ⚠
p.Glu195Ter No assertion criteria cerebrotendinous xanthomatosis
p.Glu288fs No assertion criteria cerebrotendinous xanthomatosis
p.Glu408Ter No assertion criteria cerebrotendinous xanthomatosis
p.Gly145Glu No assertion criteria cerebrotendinous xanthomatosis
p.Pro401Arg No assertion criteria cerebrotendinous xanthomatosis
p.Pro468Ser No assertion criteria cerebrotendinous xanthomatosis

Pathogenic/Likely pathogenic 50

c.1017+1del Multiple submitters cerebrotendinous xanthomatosis
c.1185-2A>G Multiple submitters Cardiovascular phenotype
c.1476+2T>A Multiple submitters cerebrotendinous xanthomatosis
c.1476+2T>C Multiple submitters cerebrotendinous xanthomatosis
c.1477-2A>C Multiple submitters cerebrotendinous xanthomatosis
c.646+1G>A Multiple submitters cerebrotendinous xanthomatosis
c.845-1G>C Multiple submitters cerebrotendinous xanthomatosis
p.Ala216Pro Multiple submitters cerebrotendinous xanthomatosis
p.Arg137Gln Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg395Cys Multiple submitters Cardiovascular phenotype
p.Arg395His Multiple submitters Cardiovascular phenotype
p.Arg395Ser Multiple submitters cerebrotendinous xanthomatosis
p.Arg405Gln Multiple submitters cerebrotendinous xanthomatosis
p.Arg405Trp Multiple submitters Cardiovascular phenotype
p.Arg459fs Multiple submitters cerebrotendinous xanthomatosis
p.Arg474Trp Multiple submitters cerebrotendinous xanthomatosis
p.Arg479Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg513Cys Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Asp176fs Multiple submitters cerebrotendinous xanthomatosis
p.Asp183fs Multiple submitters cerebrotendinous xanthomatosis
p.Asp414Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln120Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln319Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln358Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln376fs Multiple submitters cerebrotendinous xanthomatosis
p.Gln80Ter Multiple submitters cerebrotendinous xanthomatosis
p.Glu507fs Multiple submitters cerebrotendinous xanthomatosis
p.Gly336fs Multiple submitters CYP27A1-related disorder
p.Leu13fs Multiple submitters cerebrotendinous xanthomatosis
p.Leu214fs Multiple submitters cerebrotendinous xanthomatosis
p.Leu315fs Multiple submitters Cardiovascular phenotype
p.Leu394fs Multiple submitters cerebrotendinous xanthomatosis
p.Leu490fs Multiple submitters cerebrotendinous xanthomatosis
p.Leu9fs Multiple submitters cerebrotendinous xanthomatosis
p.Lys259Arg Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Lys283Ter Multiple submitters cerebrotendinous xanthomatosis
p.Lys391fs Multiple submitters cerebrotendinous xanthomatosis
p.Pro125fs Multiple submitters cerebrotendinous xanthomatosis
p.Pro355fs Multiple submitters cerebrotendinous xanthomatosis
p.Pro398fs Multiple submitters cerebrotendinous xanthomatosis
p.Ser196fs Multiple submitters cerebrotendinous xanthomatosis
p.Thr339Met Multiple submitters Cardiovascular phenotype ⚠
p.Trp11Ter Multiple submitters cerebrotendinous xanthomatosis
p.Trp133Ter Multiple submitters cerebrotendinous xanthomatosis
p.Trp154Ter Multiple submitters cerebrotendinous xanthomatosis
p.Trp268Cys Multiple submitters cerebrotendinous xanthomatosis
p.Trp268Ter Multiple submitters cerebrotendinous xanthomatosis
p.Trp275Ter Multiple submitters cerebrotendinous xanthomatosis
p.Trp96Ter Multiple submitters cerebrotendinous xanthomatosis
p.Tyr253fs Multiple submitters cerebrotendinous xanthomatosis

Likely pathogenic 63

c.1018-1G>C Multiple submitters cerebrotendinous xanthomatosis
c.1477-1G>A Multiple submitters cerebrotendinous xanthomatosis
c.447-1G>A Multiple submitters cerebrotendinous xanthomatosis
p.Ala335Val Multiple submitters cerebrotendinous xanthomatosis
p.Arg127Gly Multiple submitters cerebrotendinous xanthomatosis
p.His447fs Multiple submitters cerebrotendinous xanthomatosis
p.Leu132fs Multiple submitters cerebrotendinous xanthomatosis
p.Met130Lys Multiple submitters cerebrotendinous xanthomatosis ⚠
c.1017+1G>A Single submitter cerebrotendinous xanthomatosis
c.1477-2A>G Single submitter cerebrotendinous xanthomatosis
c.440_446+2del Single submitter cerebrotendinous xanthomatosis
c.646+1G>T Single submitter cerebrotendinous xanthomatosis
c.646+2T>C Single submitter cerebrotendinous xanthomatosis
c.845-46_881del Single submitter cerebrotendinous xanthomatosis
p.Ala3fs Single submitter cerebrotendinous xanthomatosis
p.Ala7fs Single submitter cerebrotendinous xanthomatosis
p.Arg137Gly Single submitter cerebrotendinous xanthomatosis
p.Arg137Pro Single submitter cerebrotendinous xanthomatosis
p.Arg14fs Single submitter cerebrotendinous xanthomatosis
p.Arg242Ter Single submitter cerebrotendinous xanthomatosis
p.Arg474Pro Single submitter cerebrotendinous xanthomatosis
p.Arg479Leu Single submitter cerebrotendinous xanthomatosis
p.Arg479Pro Single submitter cerebrotendinous xanthomatosis
p.Arg492fs Single submitter cerebrotendinous xanthomatosis
p.Asp354fs Single submitter cerebrotendinous xanthomatosis
p.Gln103Ter Single submitter cerebrotendinous xanthomatosis
p.Gln159fs Single submitter cerebrotendinous xanthomatosis
p.Gln163Ter Single submitter cerebrotendinous xanthomatosis
p.Gln376Ter Single submitter cerebrotendinous xanthomatosis
p.Gln445fs Single submitter cerebrotendinous xanthomatosis
p.Gln487Ter Single submitter cerebrotendinous xanthomatosis
p.Gln54Ter Single submitter cerebrotendinous xanthomatosis
p.Glu235Ter Single submitter cerebrotendinous xanthomatosis
p.Glu485Ter Single submitter cerebrotendinous xanthomatosis
p.Glu507Ter Single submitter cerebrotendinous xanthomatosis
p.Gly151fs Single submitter cerebrotendinous xanthomatosis
p.Gly318fs Single submitter cerebrotendinous xanthomatosis
p.His23fs Single submitter cerebrotendinous xanthomatosis
p.His382fs Single submitter cerebrotendinous xanthomatosis
p.Ile286fs Single submitter cerebrotendinous xanthomatosis
p.Leu165Ter Single submitter cerebrotendinous xanthomatosis
p.Leu20fs Single submitter cerebrotendinous xanthomatosis
p.Leu229fs Single submitter cerebrotendinous xanthomatosis
p.Leu329fs Single submitter cerebrotendinous xanthomatosis
p.Met1fs Single submitter cerebrotendinous xanthomatosis
p.Met1Val Single submitter cerebrotendinous xanthomatosis
p.Phe68fs Single submitter cerebrotendinous xanthomatosis
p.Phe69Ter Single submitter cerebrotendinous xanthomatosis
p.Pro302fs Single submitter
p.Ser203fs Single submitter cerebrotendinous xanthomatosis
p.Ser203Ter Single submitter cerebrotendinous xanthomatosis
p.Ser37fs Single submitter cerebrotendinous xanthomatosis
p.Ser432fs Single submitter cerebrotendinous xanthomatosis
p.Tyr174Ter Single submitter cerebrotendinous xanthomatosis
p.Tyr219Ter Single submitter cerebrotendinous xanthomatosis
p.Tyr88Ter Single submitter cerebrotendinous xanthomatosis
p.Val337fs Single submitter cerebrotendinous xanthomatosis
c.1185-2A>C No assertion criteria cerebrotendinous xanthomatosis
c.1264-2A>G No assertion criteria cerebrotendinous xanthomatosis
c.646+1G>C No assertion criteria cerebrotendinous xanthomatosis
p.Cys476fs No assertion criteria cerebrotendinous xanthomatosis
p.Gln65Ter No assertion criteria cerebrotendinous xanthomatosis
p.Glu180fs No assertion criteria cerebrotendinous xanthomatosis

Conflicting classifications of pathogenicity 76

c.1184+9G>T Single submitter cerebrotendinous xanthomatosis
c.1263+10del Single submitter cerebrotendinous xanthomatosis
c.1477-3C>T Single submitter cerebrotendinous xanthomatosis
c.646+4C>T Single submitter Cardiovascular phenotype
c.-6C>T Single submitter cerebrotendinous xanthomatosis
p.Ala169= Single submitter cerebrotendinous xanthomatosis
p.Ala169Glu Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala172Val Single submitter Cardiovascular phenotype ⚠
p.Ala40= Single submitter Cardiovascular phenotype
p.Ala437= Single submitter cerebrotendinous xanthomatosis
p.Ala491Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg119Trp Single submitter Cardiovascular phenotype ⚠
p.Arg137Trp Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg164Gln Single submitter Cardiovascular phenotype ⚠
p.Arg164Pro Single submitter Cardiovascular phenotype ⚠
p.Arg164Trp Single submitter Cardiovascular phenotype ⚠
p.Arg188Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg193Gln Single submitter Cardiovascular phenotype ⚠
p.Arg448Cys Single submitter Cardiovascular phenotype ⚠
p.Arg479Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg479His Single submitter CYP27A1-related disorder ⚠
p.Arg513His Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg8= Single submitter cerebrotendinous xanthomatosis
p.Asn179Ser Single submitter Cardiovascular phenotype ⚠
p.Asn342Ser Single submitter Cardiovascular phenotype ⚠
p.Asn403Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Asn519Ser Single submitter CYP27A1-related disorder ⚠
p.Asp176Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Asp183Asn Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln103= Single submitter cerebrotendinous xanthomatosis
p.Gln249= Single submitter cerebrotendinous xanthomatosis
p.Gln525Ter Single submitter cerebrotendinous xanthomatosis
p.Gln85= Single submitter cerebrotendinous xanthomatosis
p.Glu235Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu291Lys Single submitter Cardiovascular phenotype ⚠
p.Gly145Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly19Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly367= Single submitter cerebrotendinous xanthomatosis
p.Gly372Arg Single submitter Cardiovascular phenotype ⚠
p.Gly42= Single submitter Cardiovascular phenotype
p.Gly472Ala Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly523= Single submitter cerebrotendinous xanthomatosis
p.His105= Single submitter Cardiovascular phenotype
p.His140= Single submitter Cardiovascular phenotype
p.His377Arg Single submitter Cardiovascular phenotype ⚠
p.Ile182Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Ile233= Single submitter cerebrotendinous xanthomatosis
p.Leu108= Single submitter cerebrotendinous xanthomatosis
p.Leu297= Single submitter Cardiovascular phenotype
p.Leu351Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu394Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu501= Single submitter cerebrotendinous xanthomatosis
p.Met1Thr Single submitter CYP27A1-related disorder
p.Met486Leu Single submitter cerebrotendinous xanthomatosis ⚠
p.Met95Val Single submitter Cardiovascular phenotype ⚠
p.Phe222= Single submitter Cardiovascular phenotype
p.Phe222fs Single submitter cerebrotendinous xanthomatosis
p.Pro263= Single submitter cerebrotendinous xanthomatosis
p.Pro384Leu Single submitter Cardiovascular phenotype ⚠
p.Pro458Leu Single submitter cerebrotendinous xanthomatosis ⚠
p.Ser198Leu Single submitter Cardiovascular phenotype ⚠
p.Ser203= Single submitter Cardiovascular phenotype
p.Ser203Leu Single submitter Cardiovascular phenotype ⚠
p.Thr339= Single submitter cerebrotendinous xanthomatosis
p.Thr457= Single submitter cerebrotendinous xanthomatosis
p.Thr505Met Single submitter cerebrotendinous xanthomatosis ⚠
p.Trp268Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Tyr471Phe Single submitter Cardiovascular phenotype ⚠
p.Tyr92= Single submitter Cardiovascular phenotype
p.Val238Met Single submitter cerebrotendinous xanthomatosis ⚠
p.Val264= Single submitter Cardiovascular phenotype
p.Val264Met Single submitter Cardiovascular phenotype ⚠
p.Val368Leu Single submitter Cardiovascular phenotype
p.Val473= Single submitter Cardiovascular phenotype
p.Val50Ile Single submitter Cardiovascular phenotype ⚠
p.Val522Met Single submitter cerebrotendinous xanthomatosis ⚠

Benign 18

c.1184+55A>C Multiple submitters
c.256-136C>A Multiple submitters
c.256-136C>T Multiple submitters
c.256-137C>T Multiple submitters
c.256-138G>A Multiple submitters
c.256-139T>C Multiple submitters
c.256-150A>C Multiple submitters
p.Arg225Cys Multiple submitters Cardiovascular phenotype ⚠
p.Pro146= Multiple submitters Cardiovascular phenotype
c.1017+14del Single submitter cerebrotendinous xanthomatosis
c.1477-3del Single submitter cerebrotendinous xanthomatosis
c.1477-3dup Single submitter cerebrotendinous xanthomatosis
c.255+295A>G Single submitter
c.255+327G>A Single submitter
c.256-140_256-139insCG Single submitter
c.256-296G>T Single submitter
p.Gly122= No assertion criteria cerebrotendinous xanthomatosis
p.Lys284= No assertion criteria cerebrotendinous xanthomatosis

Benign/Likely benign 8

p.Ala169Val Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ala491Ser Multiple submitters Cardiovascular phenotype
p.Ala502Asp Multiple submitters Cardiovascular phenotype
p.Gln296= Multiple submitters Cardiovascular phenotype
p.Thr175Met Multiple submitters Cardiovascular phenotype
p.Val307= Multiple submitters Cardiovascular phenotype
p.Val368= Multiple submitters cerebrotendinous xanthomatosis
p.Val86Met Multiple submitters Cardiovascular phenotype

Likely benign 424

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

c.1017+37G>C Multiple submitters
c.256-142C>T Multiple submitters
p.Ala12= Multiple submitters Cardiovascular phenotype
p.Ala172= Multiple submitters Cardiovascular phenotype
p.Ala3= Multiple submitters cerebrotendinous xanthomatosis
p.Ala33= Multiple submitters cerebrotendinous xanthomatosis
p.Ala475= Multiple submitters Cardiovascular phenotype
p.Arg18= Multiple submitters Cardiovascular phenotype
p.Arg225= Multiple submitters Cardiovascular phenotype
p.Arg459= Multiple submitters Cardiovascular phenotype
p.Arg53= Multiple submitters Cardiovascular phenotype
p.Asn128= Multiple submitters cerebrotendinous xanthomatosis
p.Gln487= Multiple submitters Cardiovascular phenotype
p.Glu115= Multiple submitters Cardiovascular phenotype
p.Glu150= Multiple submitters cerebrotendinous xanthomatosis
p.Glu180= Multiple submitters Cardiovascular phenotype
p.Glu235= Multiple submitters Cardiovascular phenotype
p.Glu294= Multiple submitters cerebrotendinous xanthomatosis
p.Glu324= Multiple submitters Cardiovascular phenotype
p.Glu363= Multiple submitters Cardiovascular phenotype
p.Gly64= Multiple submitters Cardiovascular phenotype
p.His23= Multiple submitters Cardiovascular phenotype
p.His362= Multiple submitters Cardiovascular phenotype
p.His382= Multiple submitters Cardiovascular phenotype
p.Ile244= Multiple submitters cerebrotendinous xanthomatosis
p.Ile31= Multiple submitters cerebrotendinous xanthomatosis
p.Leu189= Multiple submitters Cardiovascular phenotype
p.Leu285= Multiple submitters Cardiovascular phenotype
p.Leu351= Multiple submitters Cardiovascular phenotype
p.Leu450= Multiple submitters cerebrotendinous xanthomatosis
p.Leu490= Multiple submitters cerebrotendinous xanthomatosis
p.Leu516= Multiple submitters cerebrotendinous xanthomatosis
p.Leu72= Multiple submitters Cardiovascular phenotype
p.Lys167= Multiple submitters Cardiovascular phenotype
p.Phe240= Multiple submitters Cardiovascular phenotype
p.Phe418= Multiple submitters Cardiovascular phenotype
p.Pro112= Multiple submitters Cardiovascular phenotype
p.Pro384= Multiple submitters Cardiovascular phenotype
p.Pro458= Multiple submitters cerebrotendinous xanthomatosis
p.Pro503= Multiple submitters Cardiovascular phenotype
p.Ser352= Multiple submitters Cardiovascular phenotype
p.Ter532= Multiple submitters cerebrotendinous xanthomatosis
p.Thr237= Multiple submitters cerebrotendinous xanthomatosis
p.Thr343= Multiple submitters cerebrotendinous xanthomatosis
p.Thr345= Multiple submitters Cardiovascular phenotype
p.Tyr144= Multiple submitters cerebrotendinous xanthomatosis
p.Tyr471= Multiple submitters Cardiovascular phenotype
p.Tyr77= Multiple submitters cerebrotendinous xanthomatosis
p.Val202= Multiple submitters Cardiovascular phenotype
p.Val365= Multiple submitters Cardiovascular phenotype
p.Val425= Multiple submitters cerebrotendinous xanthomatosis
p.Val500= Multiple submitters Cardiovascular phenotype
c.1017+10G>T Single submitter cerebrotendinous xanthomatosis
c.1017+11G>A Single submitter cerebrotendinous xanthomatosis
c.1017+11G>C Single submitter cerebrotendinous xanthomatosis
c.1017+11G>T Single submitter cerebrotendinous xanthomatosis
c.1017+14G>A Single submitter cerebrotendinous xanthomatosis
c.1017+14G>C Single submitter cerebrotendinous xanthomatosis
c.1017+15_1017+18del Single submitter cerebrotendinous xanthomatosis
c.1017+16G>T Single submitter cerebrotendinous xanthomatosis
c.1017+17G>A Single submitter cerebrotendinous xanthomatosis
c.1017+17G>T Single submitter cerebrotendinous xanthomatosis
c.1017+18G>C Single submitter cerebrotendinous xanthomatosis
c.1017+18G>T Single submitter cerebrotendinous xanthomatosis
c.1018-11C>G Single submitter cerebrotendinous xanthomatosis
c.1018-13C>T Single submitter cerebrotendinous xanthomatosis
c.1018-16C>T Single submitter cerebrotendinous xanthomatosis
c.1018-186C>T Single submitter
c.1018-19C>A Single submitter cerebrotendinous xanthomatosis
c.1018-19C>T Single submitter cerebrotendinous xanthomatosis
c.1018-251C>T Single submitter
c.1018-4C>G Single submitter cerebrotendinous xanthomatosis
c.1018-4C>T Single submitter cerebrotendinous xanthomatosis
c.1018-8T>C Single submitter cerebrotendinous xanthomatosis
c.1184+12T>C Single submitter cerebrotendinous xanthomatosis
c.1184+16G>A Single submitter cerebrotendinous xanthomatosis
c.1184+16G>C Single submitter cerebrotendinous xanthomatosis
c.1184+16G>T Single submitter cerebrotendinous xanthomatosis
c.1184+20T>C Single submitter cerebrotendinous xanthomatosis
c.1184+7C>G Single submitter cerebrotendinous xanthomatosis
c.1184+7C>T Single submitter cerebrotendinous xanthomatosis
c.1184+9G>A Single submitter cerebrotendinous xanthomatosis
c.1184+9G>C Single submitter cerebrotendinous xanthomatosis
c.1185-13C>A Single submitter cerebrotendinous xanthomatosis
c.1185-15T>C Single submitter cerebrotendinous xanthomatosis
c.1185-16A>G Single submitter cerebrotendinous xanthomatosis
c.1185-18A>G Single submitter cerebrotendinous xanthomatosis
c.1185-19G>A Single submitter cerebrotendinous xanthomatosis
c.1185-4G>A Single submitter cerebrotendinous xanthomatosis
c.1185-4G>T Single submitter cerebrotendinous xanthomatosis
c.1185-5T>C Single submitter cerebrotendinous xanthomatosis
c.1263+10G>A Single submitter cerebrotendinous xanthomatosis
c.1263+11C>T Single submitter cerebrotendinous xanthomatosis
c.1263+14G>C Single submitter cerebrotendinous xanthomatosis
c.1263+16G>A Single submitter cerebrotendinous xanthomatosis
c.1263+19C>A Single submitter cerebrotendinous xanthomatosis
c.1263+19C>T Single submitter cerebrotendinous xanthomatosis
c.1263+21del Single submitter cerebrotendinous xanthomatosis
c.1263+9G>A Single submitter cerebrotendinous xanthomatosis
c.1263+9G>C Single submitter cerebrotendinous xanthomatosis
c.1264-5T>G Single submitter cerebrotendinous xanthomatosis
c.1264-6T>C Single submitter cerebrotendinous xanthomatosis
c.1264-7T>G Single submitter cerebrotendinous xanthomatosis
c.1264-8C>T Single submitter cerebrotendinous xanthomatosis
c.1476+10G>A Single submitter cerebrotendinous xanthomatosis
c.1476+14G>A Single submitter cerebrotendinous xanthomatosis
c.1476+15G>C Single submitter cerebrotendinous xanthomatosis
c.1476+17T>C Single submitter cerebrotendinous xanthomatosis
c.1476+18A>G Single submitter cerebrotendinous xanthomatosis
c.1476+20T>C Single submitter cerebrotendinous xanthomatosis
c.1476+72G>A Single submitter
c.1477-10T>C Single submitter cerebrotendinous xanthomatosis
c.1477-13C>G Single submitter cerebrotendinous xanthomatosis
c.1477-13C>T Single submitter cerebrotendinous xanthomatosis
c.1477-16G>T Single submitter cerebrotendinous xanthomatosis
c.1477-18G>A Single submitter cerebrotendinous xanthomatosis
c.1477-19T>A Single submitter cerebrotendinous xanthomatosis
c.1477-19T>C Single submitter cerebrotendinous xanthomatosis
c.1477-20A>G Single submitter cerebrotendinous xanthomatosis
c.1477-20A>T Single submitter cerebrotendinous xanthomatosis
c.1477-4C>A Single submitter cerebrotendinous xanthomatosis
c.1477-4C>G Single submitter cerebrotendinous xanthomatosis
c.1477-4C>T Single submitter cerebrotendinous xanthomatosis
c.1477-5C>A Single submitter cerebrotendinous xanthomatosis
c.1477-5C>G Single submitter cerebrotendinous xanthomatosis
c.1477-5C>T Single submitter cerebrotendinous xanthomatosis
c.1477-6C>A Single submitter cerebrotendinous xanthomatosis
c.1477-6C>T Single submitter cerebrotendinous xanthomatosis
c.1477-7C>A Single submitter cerebrotendinous xanthomatosis
c.1477-7C>T Single submitter cerebrotendinous xanthomatosis
c.1477-8C>A Single submitter cerebrotendinous xanthomatosis
c.1477-8C>T Single submitter cerebrotendinous xanthomatosis
c.1477-9A>G Single submitter cerebrotendinous xanthomatosis
c.255+10G>A Single submitter cerebrotendinous xanthomatosis
c.255+14G>A Single submitter cerebrotendinous xanthomatosis
c.255+14G>T Single submitter cerebrotendinous xanthomatosis
c.255+15C>T Single submitter cerebrotendinous xanthomatosis
c.255+193A>C Single submitter
c.255+20C>A Single submitter cerebrotendinous xanthomatosis
c.255+7C>G Single submitter cerebrotendinous xanthomatosis
c.255+7del Single submitter cerebrotendinous xanthomatosis
c.255+87G>A Single submitter
c.255+8G>A Single submitter cerebrotendinous xanthomatosis
c.255+9C>T Single submitter cerebrotendinous xanthomatosis
c.256-10A>G Single submitter cerebrotendinous xanthomatosis
c.256-125_256-124insAC Single submitter
c.256-137_256-126del Single submitter
c.256-138_256-137insTA Single submitter
c.256-16T>G Single submitter cerebrotendinous xanthomatosis
c.256-17T>G Single submitter cerebrotendinous xanthomatosis
c.256-20G>A Single submitter cerebrotendinous xanthomatosis
c.256-20G>C Single submitter cerebrotendinous xanthomatosis
c.256-5C>T Single submitter cerebrotendinous xanthomatosis
c.256-6C>T Single submitter cerebrotendinous xanthomatosis
c.256-8C>A Single submitter cerebrotendinous xanthomatosis
c.256-9A>C Single submitter cerebrotendinous xanthomatosis
c.446+10G>A Single submitter cerebrotendinous xanthomatosis
c.446+12C>G Single submitter cerebrotendinous xanthomatosis
c.446+15G>A Single submitter cerebrotendinous xanthomatosis
c.446+18G>A Single submitter cerebrotendinous xanthomatosis
c.446+18G>C Single submitter cerebrotendinous xanthomatosis
c.446+199G>T Single submitter
c.446+19G>A Single submitter cerebrotendinous xanthomatosis
c.446+20_446+25del Single submitter cerebrotendinous xanthomatosis
c.446+223A>G Single submitter
c.446+8G>A Single submitter cerebrotendinous xanthomatosis
c.446+9G>T Single submitter cerebrotendinous xanthomatosis
c.447-10G>A Single submitter cerebrotendinous xanthomatosis
c.447-11C>T Single submitter cerebrotendinous xanthomatosis
c.447-12G>T Single submitter cerebrotendinous xanthomatosis
c.447-13T>G Single submitter cerebrotendinous xanthomatosis
c.447-141T>G Single submitter
c.447-15T>C Single submitter cerebrotendinous xanthomatosis
c.447-192C>T Single submitter
c.447-19T>C Single submitter cerebrotendinous xanthomatosis
c.447-4G>T Single submitter cerebrotendinous xanthomatosis
c.447-7C>T Single submitter cerebrotendinous xanthomatosis
c.447-8C>A Single submitter cerebrotendinous xanthomatosis
c.447-8C>G Single submitter cerebrotendinous xanthomatosis
c.447-9T>A Single submitter cerebrotendinous xanthomatosis
c.447-9T>C Single submitter cerebrotendinous xanthomatosis
c.646+10C>T Single submitter cerebrotendinous xanthomatosis
c.646+11T>C Single submitter cerebrotendinous xanthomatosis
c.646+13G>T Single submitter cerebrotendinous xanthomatosis
c.646+19G>A Single submitter cerebrotendinous xanthomatosis
c.646+8del Single submitter cerebrotendinous xanthomatosis
c.646+8T>C Single submitter cerebrotendinous xanthomatosis
c.646+9G>C Single submitter cerebrotendinous xanthomatosis
c.647-10C>T Single submitter cerebrotendinous xanthomatosis
c.647-12T>C Single submitter cerebrotendinous xanthomatosis
c.647-16T>G Single submitter cerebrotendinous xanthomatosis
c.647-17C>A Single submitter cerebrotendinous xanthomatosis
c.647-17C>T Single submitter cerebrotendinous xanthomatosis
c.647-18C>A Single submitter cerebrotendinous xanthomatosis
c.647-18C>T Single submitter cerebrotendinous xanthomatosis
c.647-19G>A Single submitter cerebrotendinous xanthomatosis
c.647-4T>C Single submitter cerebrotendinous xanthomatosis
c.647-7T>C Single submitter cerebrotendinous xanthomatosis
c.647-9A>G Single submitter cerebrotendinous xanthomatosis
c.844+10C>T Single submitter cerebrotendinous xanthomatosis
c.844+13A>T Single submitter cerebrotendinous xanthomatosis
c.844+14G>C Single submitter cerebrotendinous xanthomatosis
c.844+20G>A Single submitter cerebrotendinous xanthomatosis
c.844+9T>G Single submitter cerebrotendinous xanthomatosis
c.845-10G>A Single submitter cerebrotendinous xanthomatosis
c.845-11T>C Single submitter cerebrotendinous xanthomatosis
c.845-12T>C Single submitter cerebrotendinous xanthomatosis
c.845-13G>A Single submitter cerebrotendinous xanthomatosis
c.845-15C>T Single submitter cerebrotendinous xanthomatosis
c.845-6T>C Single submitter cerebrotendinous xanthomatosis
c.*47G>A Single submitter cerebrotendinous xanthomatosis
p.Ala109= Single submitter cerebrotendinous xanthomatosis
p.Ala111= Single submitter Cardiovascular phenotype
p.Ala16= Single submitter cerebrotendinous xanthomatosis
p.Ala194= Single submitter cerebrotendinous xanthomatosis
p.Ala2= Single submitter cerebrotendinous xanthomatosis
p.Ala213= Single submitter cerebrotendinous xanthomatosis
p.Ala25= Single submitter cerebrotendinous xanthomatosis
p.Ala277= Single submitter cerebrotendinous xanthomatosis
p.Ala29= Single submitter cerebrotendinous xanthomatosis
p.Ala325= Single submitter cerebrotendinous xanthomatosis
p.Ala34= Single submitter Cardiovascular phenotype
p.Ala347= Single submitter cerebrotendinous xanthomatosis
p.Ala360= Single submitter cerebrotendinous xanthomatosis
p.Ala371= Single submitter cerebrotendinous xanthomatosis
p.Ala456= Single submitter cerebrotendinous xanthomatosis
p.Ala482= Single submitter cerebrotendinous xanthomatosis
p.Ala491= Single submitter cerebrotendinous xanthomatosis
p.Ala502= Single submitter cerebrotendinous xanthomatosis
p.Ala7= Single submitter cerebrotendinous xanthomatosis
p.Arg119= Single submitter cerebrotendinous xanthomatosis
p.Arg137= Single submitter cerebrotendinous xanthomatosis
p.Arg14= Single submitter cerebrotendinous xanthomatosis
p.Arg158= Single submitter Cardiovascular phenotype
p.Arg164= Single submitter cerebrotendinous xanthomatosis
p.Arg188= Single submitter cerebrotendinous xanthomatosis
p.Arg193= Single submitter cerebrotendinous xanthomatosis
p.Arg231= Single submitter cerebrotendinous xanthomatosis
p.Arg262= Single submitter cerebrotendinous xanthomatosis
p.Arg323= Single submitter cerebrotendinous xanthomatosis
p.Arg323Gly Single submitter Cardiovascular phenotype ⚠
p.Arg405= Single submitter cerebrotendinous xanthomatosis
p.Arg474= Single submitter cerebrotendinous xanthomatosis
p.Arg480= Single submitter cerebrotendinous xanthomatosis
p.Arg513= Single submitter cerebrotendinous xanthomatosis
p.Arg55= Single submitter cerebrotendinous xanthomatosis
p.Arg67= Single submitter cerebrotendinous xanthomatosis
p.Asn107= Single submitter cerebrotendinous xanthomatosis
p.Asn250= Single submitter cerebrotendinous xanthomatosis
p.Asn342= Single submitter cerebrotendinous xanthomatosis
p.Asn452= Single submitter cerebrotendinous xanthomatosis
p.Asn519= Single submitter cerebrotendinous xanthomatosis
p.Asp129= Single submitter cerebrotendinous xanthomatosis
p.Asp141= Single submitter cerebrotendinous xanthomatosis
p.Asp287= Single submitter cerebrotendinous xanthomatosis
p.Asp292= Single submitter cerebrotendinous xanthomatosis
p.Asp303= Single submitter cerebrotendinous xanthomatosis
p.Asp338= Single submitter Cardiovascular phenotype
p.Cys21= Single submitter cerebrotendinous xanthomatosis
p.Cys218= Single submitter cerebrotendinous xanthomatosis
p.Cys228= Single submitter cerebrotendinous xanthomatosis
p.Cys427= Single submitter cerebrotendinous xanthomatosis
p.Cys476= Single submitter Cardiovascular phenotype
p.Cys531= Single submitter cerebrotendinous xanthomatosis
p.Gln139= Single submitter cerebrotendinous xanthomatosis
p.Gln156= Single submitter cerebrotendinous xanthomatosis
p.Gln207= Single submitter cerebrotendinous xanthomatosis
p.Gln306= Single submitter cerebrotendinous xanthomatosis
p.Gln319= Single submitter cerebrotendinous xanthomatosis
p.Gln358= Single submitter cerebrotendinous xanthomatosis
p.Gln423= Single submitter cerebrotendinous xanthomatosis
p.Gln525= Single submitter cerebrotendinous xanthomatosis
p.Gln530= Single submitter cerebrotendinous xanthomatosis
p.Glu121= Single submitter cerebrotendinous xanthomatosis
p.Glu131= Single submitter cerebrotendinous xanthomatosis
p.Glu223= Single submitter cerebrotendinous xanthomatosis
p.Glu288= Single submitter cerebrotendinous xanthomatosis
p.Glu440= Single submitter cerebrotendinous xanthomatosis
p.Glu483= Single submitter cerebrotendinous xanthomatosis
p.Glu507= Single submitter cerebrotendinous xanthomatosis
p.Gly101= Single submitter cerebrotendinous xanthomatosis
p.Gly145= Single submitter cerebrotendinous xanthomatosis
p.Gly15= Single submitter cerebrotendinous xanthomatosis
p.Gly151= Single submitter cerebrotendinous xanthomatosis
p.Gly17= Single submitter cerebrotendinous xanthomatosis
p.Gly19= Single submitter cerebrotendinous xanthomatosis
p.Gly199= Single submitter cerebrotendinous xanthomatosis
p.Gly227= Single submitter cerebrotendinous xanthomatosis
p.Gly245= Single submitter cerebrotendinous xanthomatosis
p.Gly301= Single submitter cerebrotendinous xanthomatosis
p.Gly304= Single submitter cerebrotendinous xanthomatosis
p.Gly327= Single submitter cerebrotendinous xanthomatosis
p.Gly372= Single submitter cerebrotendinous xanthomatosis
p.Gly47= Single submitter cerebrotendinous xanthomatosis
p.Gly470= Single submitter cerebrotendinous xanthomatosis
p.Gly472= Single submitter cerebrotendinous xanthomatosis
p.Gly478= Single submitter
p.Gly49= Single submitter cerebrotendinous xanthomatosis
p.Gly5= Single submitter cerebrotendinous xanthomatosis
p.Gly506= Single submitter cerebrotendinous xanthomatosis

Uncertain significance 422

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

c.1017+5G>A Multiple submitters cerebrotendinous xanthomatosis
c.1017+5G>C Multiple submitters cerebrotendinous xanthomatosis
c.256-3C>T Multiple submitters cerebrotendinous xanthomatosis
p.Ala111Gly Multiple submitters Premature coronary artery atherosclerosis ⚠
p.Ala197Gly Multiple submitters Cardiovascular phenotype ⚠
p.Ala295Val Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ala29Thr Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ala7Val Multiple submitters Cardiovascular phenotype ⚠
p.Arg158Cys Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg193Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg225Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg225Pro Multiple submitters Cardiovascular phenotype ⚠
p.Arg262Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg262His Multiple submitters Cardiovascular phenotype ⚠
p.Arg270Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg270Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg323Gln Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg323Trp Multiple submitters CYP27A1-related disorder ⚠
p.Arg433Gln Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg433Trp Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg448His Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg448Ser Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg513Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg51Trp Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Arg53Leu Multiple submitters Cardiovascular phenotype ⚠
p.Arg62His Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Asn162His Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Asp129Asn Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Asp141Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp38Val Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Asp434Ala Multiple submitters Cardiovascular phenotype ⚠
p.Asp434His Multiple submitters Cardiovascular phenotype ⚠
p.Cys21Trp Multiple submitters ⚠
p.Cys228Arg Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Cys531fs Multiple submitters Cardiovascular phenotype
p.Gln139Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln528Ter Multiple submitters cerebrotendinous xanthomatosis
p.Gln530Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gln65Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln75Glu Multiple submitters Cardiovascular phenotype ⚠
p.Gln83Glu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Gln83Pro Multiple submitters Cardiovascular phenotype ⚠
p.Glu223Gln Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Glu359Gln Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Glu359Lys Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Glu392Ala Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Glu507Val Multiple submitters Cardiovascular phenotype ⚠
p.Glu59del Multiple submitters Cardiovascular phenotype
p.Gly245Arg Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Gly415Ala Multiple submitters Cardiovascular phenotype ⚠
p.His152Leu Multiple submitters Cardiovascular phenotype ⚠
p.His23Asn Multiple submitters Cardiovascular phenotype ⚠
p.His350Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His362Arg Multiple submitters cerebrotendinous xanthomatosis ⚠
p.His362Gln Multiple submitters Cardiovascular phenotype ⚠
p.His428Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Ile182Met Multiple submitters Cardiovascular phenotype ⚠
p.Ile217Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ile411Phe Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ile514Thr Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ile514Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu142Pro Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Leu157Pro Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Leu161Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu173Phe Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Leu173Pro Multiple submitters Cardiovascular phenotype ⚠
p.Leu320Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu361Phe Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Leu508Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu516Gln Multiple submitters Cardiovascular phenotype ⚠
p.Leu72Gln Multiple submitters CYP27A1-related disorder ⚠
p.Leu81Met Multiple submitters Cardiovascular phenotype ⚠
p.Lys123Thr Multiple submitters Cardiovascular phenotype ⚠
p.Lys134Thr Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Lys284Arg Multiple submitters Cardiovascular phenotype ⚠
p.Lys28Thr Multiple submitters Cardiovascular phenotype ⚠
p.Lys353Asn Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Lys387Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys498Asn Multiple submitters Cardiovascular phenotype ⚠
p.Lys520Thr Multiple submitters Cardiovascular phenotype ⚠
p.Met205Val Multiple submitters Cardiovascular phenotype ⚠
p.Met293Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Met326Val Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Met383Lys Multiple submitters Cardiovascular phenotype ⚠
p.Met97Arg Multiple submitters Cardiovascular phenotype ⚠
p.Phe416Ser Multiple submitters Cardiovascular phenotype ⚠
p.Phe68Cys Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Phe70del Multiple submitters cerebrotendinous xanthomatosis
p.Pro112Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Pro125Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro146Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Pro234Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Pro234Thr Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Pro263Arg Multiple submitters Cardiovascular phenotype ⚠
p.Pro435Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Pro44Ser Multiple submitters Cardiovascular phenotype ⚠
p.Pro503Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Pro518Arg Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ser196Ile Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ser352Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser37Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Ser37Trp Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Thr148Ser Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Thr149Met Multiple submitters Cardiovascular phenotype ⚠
p.Thr187Ala Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Thr343Met Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Thr457Ala Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Thr505Lys Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Tyr210His Multiple submitters Cardiovascular phenotype ⚠
p.Tyr253Cys Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Tyr429Cys Multiple submitters CYP27A1-related disorder ⚠
p.Tyr429Ser Multiple submitters Cardiovascular phenotype ⚠
p.Val126Leu Multiple submitters Cardiovascular phenotype ⚠
p.Val241Ile Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Val241Phe Multiple submitters Cardiovascular phenotype ⚠
p.Val307Leu Multiple submitters cerebrotendinous xanthomatosis ⚠
p.Val425Leu Multiple submitters Cardiovascular phenotype ⚠
c.1017+4C>T Single submitter cerebrotendinous xanthomatosis
c.1184+3A>G Single submitter cerebrotendinous xanthomatosis
c.1185-3C>A Single submitter cerebrotendinous xanthomatosis
c.1263+5G>A Single submitter cerebrotendinous xanthomatosis
c.1264-14A>G Single submitter cerebrotendinous xanthomatosis
c.1476+1del Single submitter cerebrotendinous xanthomatosis
c.1477-3C>A Single submitter cerebrotendinous xanthomatosis
c.1477-3C>G Single submitter cerebrotendinous xanthomatosis
c.1477-8C>G Single submitter cerebrotendinous xanthomatosis
c.447-3C>A Single submitter cerebrotendinous xanthomatosis
c.447-3C>T Single submitter cerebrotendinous xanthomatosis
c.647-3C>A Single submitter cerebrotendinous xanthomatosis
c.844+4A>G Single submitter cerebrotendinous xanthomatosis
c.844+5_844+6insATGTGGTGAGAGTCTGAGAGGACTTTCCTTTGGTGAGAGTCTGAGAG Single submitter cerebrotendinous xanthomatosis
c.844+6G>A Single submitter cerebrotendinous xanthomatosis
c.845-3C>T Single submitter cerebrotendinous xanthomatosis
c.*153G>C Single submitter cerebrotendinous xanthomatosis
c.*195G>C Single submitter cerebrotendinous xanthomatosis
c.*209G>A Single submitter cerebrotendinous xanthomatosis
p.Ala111Asp Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala160Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala169Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala172Glu Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala177Val Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala194Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala25Gly Single submitter ⚠
p.Ala295= Single submitter cerebrotendinous xanthomatosis
p.Ala295Asp Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala295Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala325Val Single submitter ⚠
p.Ala33Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala34Asp Single submitter Cardiovascular phenotype ⚠
p.Ala360Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala371Val Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala381Val Single submitter Cardiovascular phenotype ⚠
p.Ala388Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala388Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala437Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala482Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala491Glu Single submitter Cardiovascular phenotype ⚠
p.Ala491Val Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala512Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala78Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Ala78Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg10Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg119Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg158His Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg158Leu Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg188Leu Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg188Pro Single submitter ⚠
p.Arg18Cys Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg18Gly Single submitter Cardiovascular phenotype ⚠
p.Arg18Leu Single submitter ⚠
p.Arg225His Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg231Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg262Leu Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg26Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg448Leu Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg479= Single submitter
p.Arg480Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg513Gly Single submitter ⚠
p.Arg51Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg51Gly Single submitter Cardiovascular phenotype ⚠
p.Arg51Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg53Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg53Trp Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg62Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg67Cys Single submitter cerebrotendinous xanthomatosis ⚠
p.Arg67His Single submitter cerebrotendinous xanthomatosis ⚠
p.Asn128Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Asn179Lys Single submitter Cardiovascular phenotype ⚠
p.Asn200Ser Single submitter Cardiovascular phenotype ⚠
p.Asn250Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Asn276Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Asn276Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Asn342Thr Single submitter Cardiovascular phenotype ⚠
p.Asn403Asp Single submitter ⚠
p.Asn421= Single submitter cerebrotendinous xanthomatosis
p.Asn421Asp Single submitter Cardiovascular phenotype ⚠
p.Asn519fs Single submitter
p.Asp138His Single submitter cerebrotendinous xanthomatosis ⚠
p.Asp184Asn Single submitter cerebrotendinous xanthomatosis ⚠
p.Asp236Ala Single submitter Cardiovascular phenotype ⚠
p.Asp236Asn Single submitter cerebrotendinous xanthomatosis ⚠
p.Asp273His Single submitter Cardiovascular phenotype ⚠
p.Asp287Asn Single submitter cerebrotendinous xanthomatosis ⚠
p.Asp338Val Single submitter Cardiovascular phenotype ⚠
p.Asp354Asn Single submitter cerebrotendinous xanthomatosis ⚠
p.Asp38His Single submitter Cardiovascular phenotype ⚠
p.Asp414Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Cys21Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Cys21Tyr Single submitter cerebrotendinous xanthomatosis ⚠
p.Cys476Tyr Single submitter cerebrotendinous xanthomatosis ⚠
p.Cys531Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln207Lys Single submitter Cardiovascular phenotype ⚠
p.Gln249Leu Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln306Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln373Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln445Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln461His Single submitter Cardiovascular phenotype ⚠
p.Gln487Arg Single submitter Cardiovascular phenotype ⚠
p.Gln525His Single submitter Cardiovascular phenotype ⚠
p.Gln525Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln530Leu Single submitter ⚠
p.Gln75Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Gln80Glu Single submitter Cardiovascular phenotype ⚠
p.Glu115Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu115Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu131Asp Single submitter Cardiovascular phenotype ⚠
p.Glu135Gly Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu180Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu223Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu235Ala Single submitter Cardiovascular phenotype ⚠
p.Glu288Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu324Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu331Asp Single submitter Cardiovascular phenotype ⚠
p.Glu359Ala Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu363Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu392Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu392Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Glu410Lys Single submitter ⚠
p.Glu504= Single submitter
p.Glu59Lys Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly199Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly19Ala Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly19Val Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly245Ala Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly274Ala Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly367Val Single submitter Cardiovascular phenotype ⚠
p.Gly372Trp Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly42Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly465Asp Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly465Val Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly470Val Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly472Glu Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly478Ser Single submitter Cardiovascular phenotype ⚠
p.Gly47Arg Single submitter ⚠
p.Gly506Glu Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly523_Ter532delinsXaa Single submitter cerebrotendinous xanthomatosis
p.Gly523Cys Single submitter Cardiovascular phenotype ⚠
p.Gly523Ser Single submitter Cardiovascular phenotype ⚠
p.Gly5Asp Single submitter cerebrotendinous xanthomatosis ⚠
p.Gly76Ala Single submitter Cardiovascular phenotype ⚠
p.Gly93Ser Single submitter ⚠
p.His105Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.His136Gln Single submitter Cardiovascular phenotype ⚠
p.His140Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.His152Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.His23Arg Single submitter ⚠
p.His23Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.His312Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.His382Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Ile220Asn Single submitter cerebrotendinous xanthomatosis ⚠
p.Ile226Val Single submitter Cardiovascular phenotype ⚠
p.Ile233Thr Single submitter Cardiovascular phenotype ⚠
p.Ile305Thr Single submitter Cardiovascular phenotype ⚠
p.Ile357Ser Single submitter Cardiovascular phenotype ⚠
p.Ile411Thr Single submitter cerebrotendinous xanthomatosis ⚠
p.Ile460Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Ile60Val Single submitter Cardiovascular phenotype ⚠
p.Leu113Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu13Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu214Phe Single submitter Cardiovascular phenotype ⚠
p.Leu214Ser Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu257Phe Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu265Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu290Phe Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu290Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu311Gln Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu314Phe Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu315Met Single submitter Cardiovascular phenotype ⚠
p.Leu332Arg Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu344Gln Single submitter Cardiovascular phenotype ⚠
p.Leu35Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu396Val Single submitter Cardiovascular phenotype ⚠
p.Leu450Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu450Val Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu488Pro Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu489His Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu489Pro Single submitter ⚠
p.Leu493Met Single submitter cerebrotendinous xanthomatosis ⚠
p.Leu4Gln Single submitter Cardiovascular phenotype ⚠
p.Leu4Met Single submitter cerebrotendinous xanthomatosis