#OMIA CHROM POS REF ALT GENE MUT PRED SCORE FDR PHYLOP11 AVGPHYLOP11 SIFT PHENOTYPE OMIA-002015-9615 6 16452327 G A FAM20C p.A300V Pathogenic 0.811 0.027 1.494 0.632 Deleterious Dental_hypomineralization OMIA-002131-9615 10 22832963 G A CYB5R3 p.G72S Pathogenic 0.854 0.027 1.467 0.941 Deleterious Methemoglobinaemia_CYB5R3-related OMIA-001506-9615 37 30883950 G A CLN8 p.W195* Pathogenic 0.689 0.033 1.510 0.940 - Neuronal_ceroid_lipofuscinosis_8 OMIA-001339-9615 27 38887211 T G VWF p.W553G Pathogenic 0.707 0.033 1.129 1.193 Deleterious Von_Willebrand_disease_II OMIA-000536-9615 17 784624 C T TPO p.Q111* Pathogenic 0.776 0.029 1.486 0.539 - Hypothyroidism OMIA-001327-9615 5 41055619 G C FAM83G p.R52P Benign 0.442 0.259 0.085 0.300 Deleterious Hyperkeratosis_palmoplantar OMIA-002080-9615 13 37461941 C T PLEC p.W1205* Pathogenic 0.927 0.027 1.480 1.398 - Epidermolysis_bullosa_simplex_PLEC OMIA-000437-9615 X 122973422 G A F8 p.R596* Pathogenic 0.520 0.071 0.377 -0.179 - Haemophilia_A OMIA-000031-9615 25 48150787 G C MLPH p.Gln235His Pathogenic 0.694 0.034 1.263 1.151 Deleterious Coat_colour_dilution OMIA-001461-9615 30 35841247 C T HEXA p.E323K Pathogenic 0.672 0.036 1.420 0.942 Deleterious Gangliosidosis_GM2_type_I OMIA-001561-9615 13 19383758 G A MTBP p.E875K Pathogenic 0.660 0.036 1.550 0.825 Deleterious Periodic_Fever_Syndrome OMIA-001112-9615 X 82196868 G T COL4A5 p.G1027* Pathogenic 0.816 0.028 1.185 1.001 - Nephritis_X-linked OMIA-002071-9615 5 75279699 C A LOC489707 p.R272S Pathogenic 0.670 0.035 0.002 0.504 Tolerated Macular_corneal_dystrophy OMIA-001864-9615 7 1966531 C G PKP1 NA Pathogenic 0.762 0.030 1.404 1.017 - Ectodermal_dysplasia/skin_fragility_syndrome OMIA-001692-9615 8 53778458 A G SEL1L p.S658P Pathogenic 0.528 0.067 1.126 0.443 Deleterious Ataxia_cerebellar_progressive_early-onset OMIA-000588-9615 3 40782144 G A ADAMTS17 NA Pathogenic 0.562 0.053 1.538 1.292 - Lens_luxation OMIA-001975-9615 8 70433320 C T TECPR2 p.R1337W Pathogenic 0.939 0.027 1.480 0.552 Deleterious Neuroaxonal_dystrophy_juvenile OMIA-001353-9615 27 8912219 C T ANO6 NA Pathogenic 0.754 0.031 1.496 1.424 - Platelet_receptor_for_factor_X_deficiency_of OMIA-002084-9615 1 14705240 C T PIGN p.T133I Pathogenic 0.669 0.035 1.521 0.816 Deleterious Dyskinesia_paroxysmal_PIGN OMIA-001976-9615 3 40808345 G A ADAMTS17 p.G518S Pathogenic 0.826 0.028 1.538 1.123 Deleterious Glaucoma_primary_open_angle_ADAMTS17-related OMIA-001574-9615 18 31631772 C A RAG1 p.E965* Pathogenic 0.964 0.027 1.510 0.575 - Severe_combined_immunodeficiency_disease_autosomal_T_cell-negative_B_cell-negative_NK_cell-positive OMIA-001772-9615 12 2652874 C G COL11A2 p.R48P Pathogenic 0.836 0.029 1.204 0.935 Tolerated Skeletal_dysplasia_2_(SD2) OMIA-001466-9615 9 55282762 C A DNM1 p.R256L Pathogenic 0.785 0.028 1.399 0.542 Deleterious Exercise-induced_collapse OMIA-000819-9615 16 44501415 A T KLKB1 p.F330I Pathogenic 0.572 0.049 1.146 0.826 Deleterious Prekallikrein_deficiency OMIA-001913-9615 4 36055678 A C RAB24 p.Q38P Pathogenic 0.730 0.030 1.127 1.279 Deleterious Ataxia_cerebellar_in_Old_English_Sheepdogs_and_Gordon_Setters OMIA-000664-9615 3 91534420 C T IDUA NA Pathogenic 0.880 0.027 1.203 1.079 - Mucopolysaccharidosis_I OMIA-002045-9615 30 36063748 A T BBS4 p.K20* Pathogenic 0.567 0.051 1.101 0.747 - Bardet-Biedl_syndrome_4 OMIA-000341-9615 20 40538034 G A COL7A1 p.G1906S Pathogenic 0.563 0.052 1.189 -0.129 Deleterious Epidermolysis_bullosa_dystrophic OMIA-001876-9615 25 44843440 T C SAG p.*405Rext*25 Pathogenic 0.509 0.080 0.983 1.095 - Progressive_retinal_atrophy_Basenji OMIA-001298-9615 9 4188663 C T PRCD p.C2Y Pathogenic 0.597 0.044 1.399 1.054 Deleterious_low_confidence Progressive_rod-cone_degeneration OMIA-000595-9615 31 38537012 C G ITGB2 p.C36S Pathogenic 0.687 0.033 1.635 0.597 Deleterious Leukocyte_adhesion_deficiency_type_I OMIA-000710-9615 25 39953906 T A COL4A4 p.K39* Pathogenic 0.678 0.034 1.168 0.993 - Nephropathy OMIA-000640-9615 X 60279238 C T ATP7A p.T327I Pathogenic 0.591 0.045 1.454 1.298 Deleterious Menkes_disease OMIA-001954-9615 20 50618958 C T ATG4D p.A430T Pathogenic 0.532 0.065 0.317 0.390 Tolerated Neurodegenerative_vacuolar_storage_disease OMIA-000807-9615 6 38856816 G A PKD1 p.E3187K Benign 0.047 0.281 1.184 0.529 Deleterious Polycystic_kidney_disease OMIA-001483-9615 21 23033735 A G SERPINH1 p.L326P Pathogenic 0.519 0.071 1.129 0.834 Deleterious Osteogenesis_imperfecta_Dachshund OMIA-001509-9615 9 49931561 C T ADAMTSL2 p.R221C Pathogenic 0.560 0.053 0.288 0.546 Deleterious Musladin-Lueke_syndrome OMIA-000667-9615 6 741429 C T GUSB p.R166H Benign 0.025 0.339 0.198 0.098 Deleterious Mucopolysaccharidosis_VII OMIA-001071-9615 22 225097 G A ATP7B p.R1453Q Pathogenic 0.768 0.029 1.608 0.197 Tolerated Wilson_disease OMIA_002162-9615 2 77561953 A C ALPL p.V434G Benign 0.073 0.259 0.249 0.290 Tolerated Hypophosphatasia OMIA-000437-9615 X 123043081 C T F8 p.W33* Pathogenic 0.881 0.027 1.454 0.768 - Haemophilia_A OMIA-001540-9615 34 13952270 G A CCDC39 p.R96* Pathogenic 0.947 0.027 1.575 1.118 - Ciliary_dyskinesia_primary OMIA-001339-9615 27 38924099 A G VWF p.N1646S Benign 0.013 0.469 0.899 0.168 Tolerated Von_Willebrand_disease_II OMIA-000263-9615 31 26540342 G A SOD1 p.E34K Pathogenic 0.579 0.047 0.546 0.853 Tolerated Degenerative_myelopathy OMIA-000666-9615 3 27870445 C T ARSB p.Q99* Pathogenic 0.947 0.027 1.536 1.156 - Mucopolysaccharidosis_VI OMIA-000031-9615 25 48121642 G A MLPH NA Pathogenic 0.830 0.027 1.188 0.664 - Coat_colour_dilution OMIA-001057-9615 27 38951839 G A VWF p.S2479S Pathogenic 0.600 0.044 0.399 0.588 - Von_Willebrand_disease_I OMIA-001444-9615 18 54478586 G A BEST1 p.R25* Pathogenic 0.951 0.027 1.506 1.024 - Multifocal_retinopathy_1 OMIA-001506-9615 37 30874779 T C CLN8 p.L164P Pathogenic 0.625 0.039 1.091 0.419 Deleterious Neuronal_ceroid_lipofuscinosis_8 OMIA_000438-9615 X 109532018 G A F9 p.G418E Pathogenic 0.586 0.046 1.450 0.844 Deleterious Haemophilia_B OMIA-002034-9615 12 45530566 C T SNX14 NA Pathogenic 0.798 0.028 1.518 0.928 - Cerebellar_cortical_degeneration_Hungarian_Vizsla OMIA-001033-9615 3 69456869 G T SLC2A9 p.C188F Pathogenic 0.943 0.027 1.463 0.751 Deleterious Urolithiasis OMIA-000770-9615 X 77200833 A C PLP1 p.H37P Pathogenic 0.564 0.051 1.064 1.219 Deleterious Tremor_X-linked OMIA-001335-9615 5 42186445 A G FLCN p.H255R Pathogenic 0.557 0.054 1.200 0.657 Deleterious Renal_cystadenocarcinoma_and_nodular_dermatofibrosis OMIA-001788-9615 18 16987520 G C NAPEPLD p.A180P Pathogenic 0.669 0.035 1.506 0.439 Deleterious Leukoencephalomyelopathy OMIA-001373-9615 2 21731842 A C SUV39H2 p.N324K Benign 0.131 0.244 0.138 1.016 Deleterious Nasal_parakeratosis OMIA-001138-9615 18 33397548 C T CAT p.A327T Pathogenic 0.921 0.027 1.510 0.909 Deleterious Hypocatalasia OMIA-000667-9615 6 740428 G A GUSB p.P289L Benign 0.062 0.263 1.131 0.215 Deleterious Mucopolysaccharidosis_VII OMIA-001505-9615 18 46013354 C T CTSD p.M199I Benign 0.110 0.249 0.309 -0.018 Deleterious Neuronal_ceroid_lipofuscinosis_10 OMIA-002120-9615 13 29714606 C A NDRG1 p.G98V Pathogenic 0.747 0.031 1.549 0.750 Deleterious Polyneuropathy OMIA-000438-9615 X 109530847 G A F9 p.G244E Pathogenic 0.564 0.051 1.450 0.100 Tolerated Haemophilia_B OMIA-000703-9615 12 22517939 G A HCRTR2 p.E54K Pathogenic 0.682 0.034 1.515 0.864 Deleterious Narcolepsy OMIA-001870-9615 20 53101896 C T ADAMTS10 p.A387T Benign 0.098 0.250 0.283 -0.254 Deleterious Glaucoma_primary_open_angle OMIA-000698-9615 16 6366383 G A CLCN1 p.T268M Pathogenic 0.720 0.031 1.565 1.116 Deleterious Myotonia OMIA-001346-9615 20 5637394 G C RHO p.T4R Pathogenic 0.576 0.048 1.455 0.678 Deleterious Autosomal_dominant_PRA OMIA-000882-9615 3 91747713 C T PDE6B p.W807* Pathogenic 0.820 0.029 0.717 0.610 - Rod-cone_dysplasia_1 OMIA-001471-9615 36 19078954 A C ATF2 p.M51R Pathogenic 0.653 0.037 1.049 1.237 Deleterious Neonatal_encephalopathy_with_seizures OMIA-002146-9615 14 5731405 T G MKLN1 p.G105SfsTer10 Pathogenic 0.665 0.036 1.078 1.043 - Lethal_acrodermatitis OMIA-000256-9615 10 46706001 C T SLC3A1 p.R196* Benign 0.486 0.261 -0.066 0.614 - Cystinuria_type_I_-A OMIA-002130-9615 3 31715704 A C OCA2 NA Benign 0.035 0.302 -0.255 0.274 - Coat_colour_oculocutaneous_albinism_OCA2-related OMIA-001208-9615 9 18572769 G A GFAP p.R240H Pathogenic 0.599 0.044 1.399 0.641 Deleterious Alexander_disease OMIA-001672-9615 25 50968854 G A AGXT p.G102S Pathogenic 0.722 0.031 1.513 0.667 Deleterious Primary_hyperoxaluria_type_I_(Oxalosis_I) OMIA-002105-9615 10 26544820 G A PLA2G6 p.T527A Pathogenic 0.724 0.031 1.467 1.191 Deleterious Neuroaxonal_dystrophy_PLA2G6-related OMIA-002152-9615 5 14777774 T C VPS11 p.H835R Pathogenic 0.555 0.055 1.209 1.358 Deleterious Neuroaxonal_dystrophy_VPS11-related OMIA-001503-9615 9 15071276 G A ARSG p.R99H Pathogenic 0.653 0.037 1.399 0.295 Deleterious Neuronal_ceroid_lipofuscinosis_4A