| RS2534210632 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534211115 |
WASF1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures |
| RS2534211602 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2534214205 |
TCOF1
|
Health Risk |
Pathogenic |
— |
| RS2534215438 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534225978 |
WASF1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures |
| RS2534228779 |
LFNG
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 3, autosomal recessive |
| RS2534240781 |
WASF1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with absent language and variable seizures, Neurodevelopmental disorder with absent language and variable seizures |
| RS2534249263 |
RNF216
|
Health Risk |
Pathogenic |
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS2534263051 |
DST
|
Health Risk |
Likely pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2534268486 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2534270274 |
WDFY3
|
Health Risk |
Pathogenic |
See cases, See cases |
| RS2534278098 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2534279539 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2534279612 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2534280419 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2534280802 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2534285386 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534285722 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534286887 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534300871 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534301072 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534305435 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2534305480 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534306033 |
GARS1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2534312390 |
BRAT1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures |
| RS2534317013 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534318515 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534319250 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534322136 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2534325318 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2534332866 |
TRDN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 5 |
| RS2534335823 |
GARS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2 |
| RS2534336717 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2534338827 |
DST
|
Health Risk |
Pathogenic |
Epidermolysis bullosa simplex 3, localized or generalized intermediate |
| RS2534344262 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534345446 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534346909 |
TRDN
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2534347019 |
TRDN
|
Health Risk |
Pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2534352979 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534355921 |
BRAT1
|
Health Risk |
Likely pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534357852 |
EYA4
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2534363105 |
BRAT1
|
Health Risk |
Likely pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534364249 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2534367305 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2534369819 |
DST
|
Health Risk |
Pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2534371010 |
DST
|
Health Risk |
Likely pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3 |
| RS2534375369 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534375609 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534376553 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534376879 |
TSPYL1
|
Health Risk |
Pathogenic |
Sudden infant death-dysgenesis of the testes syndrome, Sudden infant death-dysgenesis of the testes syndrome |
| RS2534378234 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534379898 |
DHX16
|
Health Risk |
Likely pathogenic |
Neuromuscular disease and ocular or auditory anomalies with or without seizures, Neuromuscular disease and ocular or auditory anomalies with or without seizures |
| RS2534380464 |
BRAT1
|
Health Risk |
Likely pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534381580 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534387868 |
COL11A2
|
Health Risk |
Likely pathogenic |
— |
| RS2534391979 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534401993 |
TRDN
|
Health Risk |
Pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2534407745 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534409365 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534409783 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7 |
| RS2534409982 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7 |
| RS2534411900 |
BRAT1
|
Health Risk |
Likely pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534412600 |
BRAT1
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures |
| RS2534413138 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2534413642 |
COL11A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Fibrochondrogenesis 2, Otospondylomegaepiphyseal dysplasia |
| RS2534414333 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2534414706 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534435171 |
HYCC1
|
Health Risk |
Likely pathogenic |
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2534440798 |
HYCC1
|
Health Risk |
Likely pathogenic |
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2534448374 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS2534449169 |
AHR
|
Health Risk |
Pathogenic |
— |
| RS2534460277 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534460628 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534460645 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534461499 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534462531 |
HYCC1
|
Health Risk |
Likely pathogenic |
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2534464142 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534464878 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7 |
| RS2534465587 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS2534472226 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2534474285 |
COL11A2
|
Health Risk |
Likely pathogenic |
— |
| RS2534478800 |
TRDN
|
Health Risk |
Pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2534482993 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS2534483084 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534483587 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534485266 |
TRDN
|
Health Risk |
Pathogenic |
Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1 |
| RS2534485312 |
TRDN
|
Health Risk |
Pathogenic/Likely pathogenic |
TRDN-related disorder, Catecholaminergic polymorphic ventricular tachycardia 5 |
| RS2534485518 |
TRDN
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2534485636 |
TRDN
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2534488667 |
COL11A2
|
Health Risk |
Likely pathogenic |
— |
| RS2534495509 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534495724 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534496753 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534513217 |
HOXA2
|
Health Risk |
Pathogenic |
HOXA2-related disorder, HOXA2-related disorder |
| RS2534520167 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2534522657 |
TCOF1
|
Health Risk |
Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534523712 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534526371 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS2534526700 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |