condition_architecture_class public_class_label gene_symbol condition_label condition_PLP_record_count best_local_unit best_local_coverage_fraction best_boundary_CDS_payload_unit best_boundary_CDS_payload_condition_coverage_fraction best_boundary_CDS_payload_bp rationale safe_use condition_local_compact_architecture Local compact architecture GLA Fabry disease 1089 GLA:exon_block:E3-E7 0.724518 GLA:boundary_CDS_coverage:after_E1 0.841139 1093 condition-associated records concentrate in compact local exon/block unit representative condition-associated record architecture example; not patient coverage condition_local_compact_architecture Local compact architecture ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2 444 ACVRL1:exon_block:E3-E7 0.673423 ACVRL1:boundary_CDS_coverage:after_E1 0.997748 1509 condition-associated records concentrate in compact local exon/block unit representative condition-associated record architecture example; not patient coverage condition_local_compact_architecture Local compact architecture SMPD1 Niemann-Pick disease, type A 367 SMPD1:exon_block:E2-E6 0.869210 SMPD1:boundary_CDS_coverage:after_E1 0.869210 1575 condition-associated records concentrate in compact local exon/block unit representative condition-associated record architecture example; not patient coverage condition_local_compact_architecture Local compact architecture ARSA Metachromatic leukodystrophy 346 ARSA:exon_block:E1-E5 0.725434 ARSA:boundary_CDS_coverage:after_E1 0.907514 1303 condition-associated records concentrate in compact local exon/block unit representative condition-associated record architecture example; not patient coverage condition_local_compact_architecture Local compact architecture IDUA Mucopolysaccharidosis type 1 334 IDUA:exon_block:E5-E9 0.508982 IDUA:boundary_CDS_coverage:after_E1 0.919162 1801 condition-associated records concentrate in compact local exon/block unit representative condition-associated record architecture example; not patient coverage condition_local_compact_architecture Local compact architecture GCDH Glutaric aciduria, type 1 322 GCDH:exon_block:E7-E11 0.602484 GCDH:boundary_CDS_coverage:after_E1 0.993789 1314 condition-associated records concentrate in compact local exon/block unit representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_architecture Boundary-CDS payload architecture FBN1 Marfan syndrome 2904 FBN1:exon_block:E62-E66 0.098485 FBN1:boundary_CDS_coverage:after_E1 0.998623 8613 condition-associated records lie downstream of transcript-boundary CDS payload hypothesis representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_architecture Boundary-CDS payload architecture FBN1 Familial thoracic aortic aneurysm and aortic dissection 2364 FBN1:exon_block:E62-E66 0.102792 FBN1:boundary_CDS_coverage:after_E1 0.999154 8613 condition-associated records lie downstream of transcript-boundary CDS payload hypothesis representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_architecture Boundary-CDS payload architecture PKD1 Polycystic kidney disease, adult type 1616 PKD1:exon_block:E11-E15 0.311881 PKD1:boundary_CDS_coverage:after_E1 0.974629 12694 condition-associated records lie downstream of transcript-boundary CDS payload hypothesis representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_architecture Boundary-CDS payload architecture DMD Duchenne muscular dystrophy 1600 DMD:exon_block:E20-E24 0.098125 DMD:boundary_CDS_coverage:after_E1 0.986250 11024 condition-associated records lie downstream of transcript-boundary CDS payload hypothesis representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_architecture Boundary-CDS payload architecture LDLR Hypercholesterolemia, familial, 1 1532 LDLR:exon_block:E4-E8 0.434726 LDLR:boundary_CDS_coverage:after_E1 0.964752 2513 condition-associated records lie downstream of transcript-boundary CDS payload hypothesis representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_architecture Boundary-CDS payload architecture CFTR Cystic fibrosis 1288 CFTR:exon_block:E10-E14 0.290373 CFTR:boundary_CDS_coverage:after_E1 0.951087 4387 condition-associated records lie downstream of transcript-boundary CDS payload hypothesis representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_with_large_payload_burden Boundary-CDS payload with large-payload burden TTN Dilated cardiomyopathy 1G 4510 TTN:exon_block:E324-E328 0.227716 TTN:boundary_CDS_coverage:after_E1 0.996009 107973 high boundary-CDS coverage with large payload burden representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_with_large_payload_burden Boundary-CDS payload with large-payload burden TTN Autosomal recessive limb-girdle muscular dystrophy type 2J 4105 TTN:exon_block:E324-E328 0.223630 TTN:boundary_CDS_coverage:after_E1 0.995859 107973 high boundary-CDS coverage with large payload burden representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_with_large_payload_burden Boundary-CDS payload with large-payload burden NEB Nemaline myopathy 2 1554 NEB:exon_block:E85-E89 0.065637 NEB:boundary_CDS_coverage:after_E1 0.996782 25575 high boundary-CDS coverage with large payload burden representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_with_large_payload_burden Boundary-CDS payload with large-payload burden TTN Cardiovascular phenotype 1167 TTN:exon_block:E324-E328 0.272494 TTN:boundary_CDS_coverage:after_E1 0.998286 107973 high boundary-CDS coverage with large payload burden representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_with_large_payload_burden Boundary-CDS payload with large-payload burden NEB Arthrogryposis multiplex congenita 6 581 NEB:exon_block:E168-E172 0.091222 NEB:boundary_CDS_coverage:after_E1 0.998279 25575 high boundary-CDS coverage with large payload burden representative condition-associated record architecture example; not patient coverage condition_boundary_CDS_payload_with_large_payload_burden Boundary-CDS payload with large-payload burden SYNE1 Autosomal recessive ataxia, Beauce type 235 SYNE1:exon_block:E75-E79 0.097872 SYNE1:boundary_CDS_coverage:after_E1 0.995745 26391 high boundary-CDS coverage with large payload burden representative condition-associated record architecture example; not patient coverage condition_donor_payload_burden_caveat Donor/payload-burden caveat EXT1 Multiple congenital exostosis 424 EXT1:exon_block:E1-E5 0.679245 EXT1:boundary_CDS_coverage:after_E1 0.580189 1276 condition-associated records require large-payload unit for coverage representative condition-associated record architecture example; not patient coverage condition_donor_payload_burden_caveat Donor/payload-burden caveat PCDH19 Developmental and epileptic encephalopathy, 9 344 PCDH19:exon_block:E1-E5 0.970930 PCDH19:boundary_CDS_coverage:after_E1 0.168605 1297 condition-associated records require large-payload unit for coverage representative condition-associated record architecture example; not patient coverage condition_donor_payload_burden_caveat Donor/payload-burden caveat AR Androgen resistance syndrome 270 AR:exon_block:E1-E5 0.725926 AR:boundary_CDS_coverage:after_E1 0.696296 1144 condition-associated records require large-payload unit for coverage representative condition-associated record architecture example; not patient coverage condition_donor_payload_burden_caveat Donor/payload-burden caveat ARSB Mucopolysaccharidosis type 6 251 ARSB:exon_block:E1-E5 0.760956 ARSB:boundary_CDS_coverage:after_E1 0.717131 1287 condition-associated records require large-payload unit for coverage representative condition-associated record architecture example; not patient coverage condition_donor_payload_burden_caveat Donor/payload-burden caveat PRPH2 PRPH2-related disorder 240 PRPH2:exon_block:E1-E3 0.995833 PRPH2:boundary_CDS_coverage:after_E1 0.575000 457 condition-associated records require large-payload unit for coverage representative condition-associated record architecture example; not patient coverage condition_donor_payload_burden_caveat Donor/payload-burden caveat TYR Oculocutaneous albinism type 1A 161 TYR:exon_block:E1-E5 1.000000 TYR:boundary_CDS_coverage:after_E1 0.503106 768 condition-associated records require large-payload unit for coverage representative condition-associated record architecture example; not patient coverage condition_tumor_predisposition_control_context Tumor-predisposition control context NF1 Neurofibromatosis, type 1 4600 NF1:exon_block:E36-E40 0.155217 NF1:boundary_CDS_coverage:after_E1 0.980870 8457 gene-level tumor-predisposition control; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_tumor_predisposition_control_context Tumor-predisposition control context BRCA2 Breast-ovarian cancer, familial, susceptibility to, 2 3395 BRCA2:exon_block:E10-E14 0.641532 BRCA2:boundary_CDS_coverage:after_E1 0.995582 10254 gene-level tumor-predisposition control; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_tumor_predisposition_control_context Tumor-predisposition control context BRCA2 Hereditary breast ovarian cancer syndrome 3209 BRCA2:exon_block:E10-E14 0.638205 BRCA2:boundary_CDS_coverage:after_E1 0.992521 10254 gene-level tumor-predisposition control; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_tumor_predisposition_control_context Tumor-predisposition control context BRCA1 Breast-ovarian cancer, familial, susceptibility to, 1 2883 BRCA1:exon_block:E10-E14 0.661117 BRCA1:boundary_CDS_coverage:after_E1 0.984738 5589 gene-level tumor-predisposition control; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_tumor_predisposition_control_context Tumor-predisposition control context BRCA2 Hereditary cancer-predisposing syndrome 2743 BRCA2:exon_block:E10-E14 0.638352 BRCA2:boundary_CDS_coverage:after_E1 0.996719 10254 gene-level tumor-predisposition control; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_tumor_predisposition_control_context Tumor-predisposition control context ATM Ataxia-telangiectasia syndrome 2437 ATM:exon_block:E7-E11 0.121461 ATM:boundary_CDS_coverage:after_E1 0.991383 9168 gene-level tumor-predisposition control; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_mechanism_complex_limitation Mechanism-complex limitation RMRP Anauxetic dysplasia 233 RMRP:single_exon:E1 0.845494 gene-level mechanism-complex limitation; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_mechanism_complex_limitation Mechanism-complex limitation RMRP Metaphyseal chondrodysplasia, McKusick type 186 RMRP:single_exon:E1 0.876344 gene-level mechanism-complex limitation; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_mechanism_complex_limitation Mechanism-complex limitation HBA2 alpha Thalassemia 157 HBA2:exon_block:E1-E3 0.955414 HBA2:boundary_CDS_coverage:after_E1 0.700637 331 gene-level mechanism-complex limitation; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_mechanism_complex_limitation Mechanism-complex limitation HBA1 alpha Thalassemia 118 HBA1:exon_block:E1-E3 0.915254 HBA1:boundary_CDS_coverage:after_E1 0.618644 331 gene-level mechanism-complex limitation; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_mechanism_complex_limitation Mechanism-complex limitation HBA1 Erythrocytosis, familial, 7 35 HBA1:exon_block:E1-E3 0.942857 HBA1:boundary_CDS_coverage:after_E1 0.628571 331 gene-level mechanism-complex limitation; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_mechanism_complex_limitation Mechanism-complex limitation RMRP Metaphyseal dysplasia without hypotrichosis 29 RMRP:single_exon:E1 0.931034 gene-level mechanism-complex limitation; condition facet retained as caution representative condition-associated record architecture example; not patient coverage condition_diffuse_or_moderate_architecture Diffuse/moderate architecture ABCD1 Adrenoleukodystrophy 444 ABCD1:exon_block:E1-E5 0.632883 ABCD1:boundary_CDS_coverage:after_E1 0.590090 1335 moderate condition-level unit coverage; no compact high-coverage unit representative condition-associated record architecture example; not patient coverage condition_diffuse_or_moderate_architecture Diffuse/moderate architecture LMNA Charcot-Marie-Tooth disease type 2 354 LMNA:exon_block:E1-E5 0.579096 LMNA:boundary_CDS_coverage:after_E1 0.728814 1636 moderate condition-level unit coverage; no compact high-coverage unit representative condition-associated record architecture example; not patient coverage condition_diffuse_or_moderate_architecture Diffuse/moderate architecture NAGLU Mucopolysaccharidosis, MPS-III-B 278 NAGLU:exon_block:E2-E6 0.766187 NAGLU:boundary_CDS_coverage:after_E1 0.766187 1846 moderate condition-level unit coverage; no compact high-coverage unit representative condition-associated record architecture example; not patient coverage condition_diffuse_or_moderate_architecture Diffuse/moderate architecture SLC22A5 Renal carnitine transport defect 274 SLC22A5:exon_block:E1-E5 0.667883 SLC22A5:boundary_CDS_coverage:after_E1 0.722628 1278 moderate condition-level unit coverage; no compact high-coverage unit representative condition-associated record architecture example; not patient coverage condition_diffuse_or_moderate_architecture Diffuse/moderate architecture EDA Hypohidrotic X-linked ectodermal dysplasia 243 EDA:exon_block:E4-E8 0.674897 EDA:boundary_CDS_coverage:after_E1 0.794239 777 moderate condition-level unit coverage; no compact high-coverage unit representative condition-associated record architecture example; not patient coverage condition_diffuse_or_moderate_architecture Diffuse/moderate architecture HNF1A Monogenic diabetes 230 HNF1A:exon_block:E1-E5 0.860870 HNF1A:boundary_CDS_coverage:after_E1 0.782609 1567 moderate condition-level unit coverage; no compact high-coverage unit representative condition-associated record architecture example; not patient coverage