| RS587777054 |
GNAO1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 17 |
| RS587777055 |
GNAO1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 17 |
| RS587777056 |
GNAO1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 17 |
| RS587777057 |
GNAO1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 17 |
| RS587777058 |
RSPH1
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 24, Primary ciliary dyskinesia |
| RS587777059 |
RSPH1
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 24, Kartagener syndrome |
| RS587777061 |
ASXL3
|
Health Risk |
Pathogenic |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS587777062 |
ASXL3
|
Health Risk |
Pathogenic |
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome |
| RS587777063 |
TRIM2
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2R, Charcot-Marie-Tooth disease type 2R |
| RS587777064 |
DYNC2I1
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS587777065 |
DYNC2I1
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS587777066 |
DYNC2I1
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 8 with or without polydactyly, Short-rib thoracic dysplasia 8 with or without polydactyly |
| RS587777067 |
DDX59
|
Health Risk |
Pathogenic/Likely pathogenic |
Orofaciodigital syndrome V, Orofaciodigital syndrome V |
| RS587777068 |
NALCN
|
Health Risk |
Pathogenic |
Hypotonia, infantile |
| RS587777069 |
SLITRK6
|
Health Risk |
Pathogenic/Likely pathogenic |
High myopia-sensorineural deafness syndrome, SLITRK6-related disorder |
| RS587777070 |
SLITRK6
|
Health Risk |
Likely pathogenic |
High myopia-sensorineural deafness syndrome, High myopia-sensorineural deafness syndrome |
| RS587777071 |
SLITRK6
|
Health Risk |
Pathogenic |
High myopia-sensorineural deafness syndrome, High myopia-sensorineural deafness syndrome |
| RS587777072 |
SYNE4
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76 |
| RS587777073 |
KMT2C
|
Health Risk |
Pathogenic/Likely pathogenic |
Kleefstra syndrome 2, KMT2C-related NDD |
| RS587777076 |
PIEZO2
|
Health Risk |
Pathogenic |
Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome, Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome |
| RS587777078 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 without polydactyly, Retinitis pigmentosa 71 |
| RS587777079 |
IFT172
|
Health Risk |
Pathogenic/Likely pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Joubert syndrome |
| RS587777081 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 without polydactyly |
| RS587777082 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 without polydactyly |
| RS587777083 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS587777084 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 without polydactyly |
| RS587777085 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS587777086 |
IFT172
|
Health Risk |
Pathogenic/Likely pathogenic |
Short-rib thoracic dysplasia 10 without polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS587777087 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with polydactyly, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS587777088 |
PTDSS1
|
Health Risk |
Pathogenic |
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |
| RS587777089 |
PTDSS1
|
Health Risk |
Pathogenic |
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |
| RS587777090 |
PTDSS1
|
Health Risk |
Pathogenic |
Lenz-Majewski hyperostosis syndrome, Lenz-Majewski hyperostosis syndrome |
| RS587777091 |
DYNC2I2
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777092 |
DYNC2I2
|
Health Risk |
Likely pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, DYNC2I2-related disorder |
| RS587777093 |
DYNC2I2
|
Health Risk |
Pathogenic/Likely pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777094 |
DYNC2I2
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777095 |
DYNC2I2
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777096 |
DYNC2I2
|
Health Risk |
Conflicting classifications of pathogenicity |
Short-rib thoracic dysplasia 11 with or without polydactyly, Jeune thoracic dystrophy |
| RS587777097 |
DYNC2I2
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777098 |
DYNC2I2
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly |
| RS587777099 |
SZT2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS587777100 |
CDIN1
|
Health Risk |
Likely pathogenic |
Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B |
| RS587777101 |
CDIN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital dyserythropoietic anemia type type 1B, Congenital dyserythropoietic anemia type type 1B |
| RS587777102 |
EIF2AK4
|
Health Risk |
Pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777103 |
EIF2AK4
|
Health Risk |
Pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777104 |
EIF2AK4
|
Health Risk |
Pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777105 |
EIF2AK4
|
Health Risk |
Pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777106 |
EIF2AK4
|
Health Risk |
Likely pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777107 |
EIF2AK4
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777108 |
ATL3
|
Health Risk |
Pathogenic |
Neuropathy, hereditary sensory |
| RS587777109 |
EFNB1
|
Health Risk |
Pathogenic |
Craniofrontonasal syndrome, Craniofrontonasal syndrome |
| RS587777110 |
CLCN2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS587777111 |
CLCN2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS587777112 |
CLCN2
|
Health Risk |
Pathogenic |
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS587777113 |
TBX6
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 5, Spondylocostal dysostosis 2 |
| RS587777114 |
DPM1
|
Health Risk |
Likely pathogenic |
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS587777115 |
DPM1
|
Health Risk |
Pathogenic |
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS587777116 |
DPM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E |
| RS587777117 |
RPL5
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia |
| RS587777118 |
RPL5
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia 6, Diamond-Blackfan anemia 6 |
| RS587777119 |
RPL11
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS587777120 |
RPL11
|
Health Risk |
Pathogenic |
Diamond-Blackfan anemia 7, Diamond-Blackfan anemia 7 |
| RS587777121 |
AASS
|
Health Risk |
Pathogenic |
Hyperlysinemia, Hyperlysinemia |
| RS587777122 |
AASS
|
Health Risk |
Pathogenic |
Hyperlysinemia, Hyperlysinemia |
| RS587777123 |
AASS
|
Health Risk |
Pathogenic |
Hyperlysinemia, Hyperlysinemia |
| RS587777124 |
AASS
|
Health Risk |
Pathogenic |
Hyperlysinemia, Hyperlysinemia |
| RS587777125 |
AASS
|
Health Risk |
Likely pathogenic |
Hyperlysinemia, Hyperlysinemia |
| RS587777126 |
AASS
|
Health Risk |
Pathogenic |
Hyperlysinemia, Hyperlysinemia |
| RS587777127 |
WWOX
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy |
| RS587777128 |
WWOX
|
Health Risk |
Pathogenic |
Autosomal recessive spinocerebellar ataxia 12, Autosomal recessive spinocerebellar ataxia 12 |
| RS587777129 |
ECEL1
|
Health Risk |
Pathogenic |
Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS587777130 |
ECEL1
|
Health Risk |
Pathogenic |
Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS587777131 |
ECEL1
|
Health Risk |
Pathogenic |
Distal arthrogryposis type 5D, Distal arthrogryposis type 5D |
| RS587777132 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Amyotrophic lateral sclerosis type 2 |
| RS587777133 |
OTOA
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22 |
| RS587777134 |
CTNNA3
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular dysplasia 13 |
| RS587777135 |
CTNNA3
|
Health Risk |
Pathogenic |
Arrhythmogenic right ventricular dysplasia 13, Arrhythmogenic right ventricular cardiomyopathy |
| RS587777136 |
COASY
|
Health Risk |
Pathogenic |
Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation 6 |
| RS587777137 |
DOLK
|
Health Risk |
Pathogenic/Likely pathogenic |
DK1-congenital disorder of glycosylation, Cardiovascular phenotype |
| RS587777138 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, CSPP1-related disorder |
| RS587777139 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS587777140 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS587777141 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS587777142 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Squamous cell lung carcinoma |
| RS587777143 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS587777145 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Meckel-Gruber syndrome |
| RS587777146 |
CSPP1
|
Health Risk |
Pathogenic |
Joubert syndrome 21, Joubert syndrome 21 |
| RS587777147 |
TBC1D24
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 86, DOORS syndrome |
| RS587777148 |
KPTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Macrocephaly-developmental delay syndrome, KPTN-related disorder |
| RS587777149 |
CD59
|
Health Risk |
Pathogenic |
Primary CD59 deficiency, Primary CD59 deficiency |
| RS587777150 |
PRPS1
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease X-linked recessive 5, Charcot-Marie-Tooth disease X-linked recessive 5 |
| RS587777151 |
RAB18
|
Health Risk |
Pathogenic |
Warburg micro syndrome 3, Warburg micro syndrome 3 |
| RS587777152 |
RAB3GAP1
|
Health Risk |
Pathogenic |
Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS587777153 |
RAB3GAP1
|
Health Risk |
Pathogenic |
Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS587777154 |
RAB3GAP1
|
Health Risk |
Pathogenic |
Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS587777155 |
RAB3GAP1
|
Health Risk |
Pathogenic |
Warburg micro syndrome 1, Warburg micro syndrome 1 |
| RS587777156 |
PDE6D
|
Health Risk |
Pathogenic |
Joubert syndrome 22, Joubert syndrome 22 |
| RS587777157 |
TBC1D20
|
Health Risk |
Pathogenic |
Warburg micro syndrome 4, Warburg micro syndrome 4 |
| RS587777158 |
TBC1D20
|
Health Risk |
Pathogenic |
Warburg micro syndrome 4, Warburg micro syndrome 4 |
| RS587777159 |
TBC1D20
|
Health Risk |
Pathogenic |
Warburg micro syndrome 4, Warburg micro syndrome 4 |