| RS121908084 |
TPO
|
Health Risk |
Pathogenic |
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS121908085 |
TPO
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS121908086 |
TPO
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of iodide peroxidase, Deficiency of iodide peroxidase |
| RS121908088 |
TPO
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of iodide peroxidase, Congenital hypothyroidism |
| RS121908089 |
NHP2
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 2 |
| RS121908090 |
NHP2
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 2 |
| RS121908091 |
NHP2
|
Health Risk |
Pathogenic |
Dyskeratosis congenita, autosomal recessive 2 |
| RS121908093 |
ZMPSTE24
|
Health Risk |
Pathogenic |
Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS121908094 |
ZMPSTE24
|
Health Risk |
Pathogenic |
Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS121908095 |
ZMPSTE24
|
Health Risk |
Pathogenic |
Mandibuloacral dysplasia with type B lipodystrophy, Mandibuloacral dysplasia with type B lipodystrophy |
| RS121908096 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Intellectual disability |
| RS121908097 |
CYP27A1
|
Health Risk |
Likely pathogenic |
Cholestanol storage disease, CYP27A1-related disorder |
| RS121908098 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, CYP27A1-related disorder |
| RS121908099 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, Intellectual disability |
| RS121908102 |
CYP27A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Cholestanol storage disease, CYP27A1-related disorder |
| RS121908103 |
MYO5B
|
Health Risk |
Pathogenic |
Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS121908104 |
MYO5B
|
Health Risk |
Pathogenic |
Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS121908105 |
MYO5B
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS121908106 |
MYO5B
|
Health Risk |
Pathogenic |
Congenital microvillous atrophy, Congenital microvillous atrophy |
| RS121908107 |
MYLK2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiomyopathy, hypertrophic |
| RS121908109 |
ENAM
|
Health Risk |
Pathogenic |
Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local |
| RS121908110 |
FKRP
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS121908112 |
GDAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A |
| RS121908113 |
GDAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A |
| RS121908114 |
GDAP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2K, Charcot-Marie-Tooth disease type 4A |
| RS121908115 |
GDAP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2K, Autosomal dominant Charcot-Marie-Tooth disease type 2K |
| RS121908116 |
EDARADD
|
Health Risk |
Pathogenic |
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type |
| RS121908117 |
TREX1
|
Health Risk |
Pathogenic |
Aicardi-Goutieres syndrome 1, autosomal dominant |
| RS121908118 |
WNT10A
|
Health Risk |
Conflicting classifications of pathogenicity |
Odonto-onycho-dermal dysplasia, Tooth agenesis |
| RS121908119 |
WNT10A
|
Health Risk |
Pathogenic/Likely pathogenic |
Odonto-onycho-dermal dysplasia, Schöpf-Schulz-Passarge syndrome |
| RS121908120 |
WNT10A
|
Health Risk |
Conflicting classifications of pathogenicity |
Odonto-onycho-dermal dysplasia, Tooth agenesis |
| RS121908121 |
WNT10A
|
Health Risk |
Pathogenic/Likely pathogenic |
Odonto-onycho-dermal dysplasia, Tooth agenesis |
| RS121908122 |
WNT10A
|
Health Risk |
Pathogenic |
Odonto-onycho-dermal dysplasia, Tooth agenesis |
| RS121908123 |
WNT10A
|
Health Risk |
Pathogenic |
Odonto-onycho-dermal dysplasia, Odonto-onycho-dermal dysplasia |
| RS121908124 |
CTNS
|
Health Risk |
Pathogenic |
Nephropathic cystinosis, Nephropathic cystinosis |
| RS121908126 |
CTNS
|
Health Risk |
Likely pathogenic |
Nephropathic cystinosis, Inborn genetic diseases |
| RS121908127 |
CTNS
|
Health Risk |
Pathogenic |
Nephropathic cystinosis, Inborn genetic diseases |
| RS121908128 |
CTNS
|
Health Risk |
Conflicting classifications of pathogenicity |
Juvenile nephropathic cystinosis, Inborn genetic diseases |
| RS121908129 |
CTNS
|
Health Risk |
Pathogenic |
Cystinosis, atypical nephropathic |
| RS121908130 |
PSTPIP1
|
Health Risk |
Pathogenic |
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, PSTPIP1-related disorder |
| RS121908131 |
APTX
|
Health Risk |
Pathogenic |
Ataxia, early-onset |
| RS121908132 |
APTX
|
Health Risk |
Pathogenic |
Ataxia, early-onset |
| RS121908133 |
APTX
|
Health Risk |
Pathogenic |
Ataxia, early-onset |
| RS121908134 |
ESPN
|
Health Risk |
Pathogenic |
Deafness, without vestibular involvement |
| RS121908136 |
ESPN
|
Health Risk |
Pathogenic |
Deafness, without vestibular involvement |
| RS121908137 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS121908138 |
ALS2
|
Health Risk |
Likely pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS121908139 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS121908140 |
CLRN1
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 3, Hearing impairment |
| RS121908141 |
CLRN1
|
Health Risk |
Likely pathogenic |
Usher syndrome type 3, Usher syndrome type 3 |
| RS121908142 |
CLRN1
|
Health Risk |
Likely pathogenic |
Usher syndrome type 3, Retinitis pigmentosa 61 |
| RS121908143 |
CLRN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Usher syndrome type 3, Retinal dystrophy |
| RS121908144 |
BSND
|
Health Risk |
Pathogenic |
Sensorineural deafness with mild renal dysfunction, Bartter disease type 4A |
| RS121908145 |
BSND
|
Health Risk |
Pathogenic |
Sensorineural deafness with mild renal dysfunction, Hearing impairment |
| RS121908146 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Cryopyrin associated periodic syndrome |
| RS121908147 |
NLRP3
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cold autoinflammatory syndrome 1, Familial amyloid nephropathy with urticaria AND deafness |
| RS121908148 |
NLRP3
|
Health Risk |
Likely pathogenic |
Familial cold autoinflammatory syndrome 1, Autoinflammatory syndrome |
| RS121908149 |
NLRP3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1 |
| RS121908150 |
NLRP3
|
Health Risk |
Pathogenic |
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1 |
| RS121908151 |
NLRP3
|
Health Risk |
Pathogenic |
Familial amyloid nephropathy with urticaria AND deafness, Familial cold autoinflammatory syndrome 1 |
| RS121908152 |
NLRP3
|
Health Risk |
Pathogenic |
Chronic infantile neurological, cutaneous and articular syndrome |
| RS121908153 |
NLRP3
|
Health Risk |
Pathogenic |
Familial amyloid nephropathy with urticaria AND deafness, Chronic infantile neurological |
| RS121908154 |
NLRP3
|
Health Risk |
Pathogenic |
Chronic infantile neurological, cutaneous and articular syndrome |
| RS121908155 |
DPM3
|
Health Risk |
Pathogenic |
DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation |
| RS121908156 |
DCLRE1C
|
Health Risk |
Pathogenic |
Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis |
| RS121908157 |
DCLRE1C
|
Health Risk |
Pathogenic |
Athabaskan severe combined immunodeficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS121908159 |
DCLRE1C
|
Health Risk |
Pathogenic |
Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS121908160 |
KIF1B
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 2A1, Charcot-Marie-Tooth disease type 2A1 |
| RS121908161 |
KIF1B
|
Health Risk |
risk factor |
Neuroblastoma, susceptibility to |
| RS121908162 |
KIF1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS121908163 |
KIF1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS121908165 |
HAX1
|
Health Risk |
Conflicting classifications of pathogenicity |
Kostmann syndrome, Congenital portosystemic shunt |
| RS121908166 |
ALX3
|
Health Risk |
Pathogenic |
Frontorhiny, Frontorhiny |
| RS121908167 |
ALX3
|
Health Risk |
Pathogenic |
Frontorhiny, Frontorhiny |
| RS121908169 |
ALX3
|
Health Risk |
Pathogenic |
Frontorhiny, Frontorhiny |
| RS121908170 |
ALX3
|
Health Risk |
Pathogenic |
Frontorhiny, Frontorhiny |
| RS121908171 |
RAB23
|
Health Risk |
Pathogenic |
RAB23-related Carpenter syndrome, Inborn genetic diseases |
| RS121908172 |
SLC2A10
|
Health Risk |
Pathogenic/Likely pathogenic |
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS121908173 |
SLC2A10
|
Health Risk |
Pathogenic/Likely pathogenic |
Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS121908174 |
BBS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome |
| RS121908175 |
BBS2
|
Health Risk |
Pathogenic/Likely pathogenic |
BARDET-BIEDL SYNDROME 2/6, DIGENIC |
| RS121908176 |
BBS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome |
| RS121908177 |
BBS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome |
| RS121908178 |
BBS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-biedl syndrome 2/4, digenic |
| RS121908179 |
BBS2
|
Health Risk |
Pathogenic |
Bardet-biedl syndrome 1/2, digenic |
| RS121908180 |
BBS2
|
Health Risk |
Pathogenic |
BARDET-BIEDL SYNDROME 2/6, DIGENIC |
| RS121908181 |
BBS2
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2 |
| RS121908182 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS121908184 |
SELENON
|
Health Risk |
Pathogenic/Likely pathogenic |
Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion |
| RS121908185 |
SELENON
|
Health Risk |
Pathogenic/Likely pathogenic |
Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder |
| RS121908186 |
SELENON
|
Health Risk |
Likely pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS121908187 |
SELENON
|
Health Risk |
Pathogenic |
Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy |
| RS121908188 |
SELENON
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy |
| RS121908189 |
MFRP
|
Health Risk |
Pathogenic |
Nanophthalmos 2, Isolated microphthalmia 5 |
| RS121908190 |
MFRP
|
Health Risk |
Pathogenic |
Nanophthalmos 2, Nanophthalmos 2 |
| RS121908191 |
ITK
|
Health Risk |
Likely pathogenic |
Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1 |
| RS121908192 |
GFER
|
Health Risk |
Pathogenic |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Inborn genetic diseases |
| RS121908195 |
TPP1
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis |
| RS121908197 |
TPP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis |
| RS121908198 |
TPP1
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2 |