| RS121918094 |
TTR
|
Health Risk |
Pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS121918095 |
TTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyloidosis, hereditary systemic 1 |
| RS121918096 |
TTR
|
Health Risk |
Pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS121918097 |
TTR
|
Health Risk |
Pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS121918098 |
TTR
|
Health Risk |
Pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS121918099 |
TTR
|
Health Risk |
Likely pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS121918100 |
TTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Amyloidosis, hereditary systemic 1 |
| RS121918103 |
PSAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Sphingolipid activator protein 1 deficiency, Inborn genetic diseases |
| RS121918104 |
PSAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Sphingolipid activator protein 1 deficiency, Combined PSAP deficiency |
| RS121918105 |
PSAP
|
Health Risk |
Pathogenic |
Gaucher disease due to saposin C deficiency, Gaucher disease due to saposin C deficiency |
| RS121918106 |
PSAP
|
Health Risk |
Pathogenic |
Combined PSAP deficiency, Gaucher disease due to saposin C deficiency |
| RS121918107 |
PSAP
|
Health Risk |
Pathogenic/Likely pathogenic |
Sphingolipid activator protein 1 deficiency, PSAP-related disorder |
| RS121918108 |
PSAP
|
Health Risk |
Pathogenic |
Gaucher disease due to saposin C deficiency, Gaucher disease due to saposin C deficiency |
| RS121918109 |
PSAP
|
Health Risk |
Pathogenic |
Gaucher disease due to saposin C deficiency, Gaucher disease due to saposin C deficiency |
| RS121918110 |
PSAP
|
Health Risk |
Likely pathogenic |
Gaucher disease due to saposin C deficiency, Metachromatic leukodystrophy |
| RS121918111 |
POMC
|
Health Risk |
Pathogenic |
Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency |
| RS121918112 |
POMC
|
Health Risk |
Pathogenic |
Obesity due to pro-opiomelanocortin deficiency, Obesity due to pro-opiomelanocortin deficiency |
| RS121918113 |
ATP2A1
|
Health Risk |
Pathogenic |
Brody myopathy, Brody myopathy |
| RS121918114 |
ATP2A1
|
Health Risk |
Pathogenic |
Brody myopathy, Brody myopathy |
| RS121918115 |
ATP2A1
|
Health Risk |
Likely pathogenic |
Brody myopathy, Brody myopathy |
| RS121918116 |
EPOR
|
Health Risk |
Pathogenic |
Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation |
| RS121918117 |
GHRHR
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 4 |
| RS121918118 |
GHRHR
|
Health Risk |
Pathogenic/Likely pathogenic |
Isolated growth hormone deficiency, type 4 |
| RS121918119 |
GHRHR
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 4 |
| RS121918120 |
GHRHR
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 4 |
| RS121918121 |
GHRHR
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency, type 4 |
| RS121918122 |
HRG
|
Health Risk |
Pathogenic |
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency |
| RS121918123 |
TAC3
|
Health Risk |
Pathogenic |
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA |
| RS121918124 |
TACR3
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia |
| RS121918125 |
TACR3
|
Health Risk |
Pathogenic |
Hypogonadotropic hypogonadism 11 with or without anosmia, Absence of pubertal development |
| RS121918126 |
SLC6A2
|
Health Risk |
Pathogenic |
Neurocirculatory asthenia, Neurocirculatory asthenia |
| RS121918127 |
INPP5E
|
Health Risk |
Pathogenic |
MORM syndrome, Joubert syndrome 1 |
| RS121918128 |
INPP5E
|
Health Risk |
Likely pathogenic |
Joubert syndrome 1, Joubert syndrome and related disorders |
| RS121918129 |
INPP5E
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 1, Joubert syndrome |
| RS121918130 |
INPP5E
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 1, Joubert syndrome |
| RS121918131 |
KNG1
|
Health Risk |
Pathogenic |
KININOGEN DEFICIENCY, TOTAL |
| RS121918132 |
BCAM
|
Health Risk |
Pathogenic |
BLOOD GROUP--LUTHERAN NULL, BLOOD GROUP--LUTHERAN NULL |
| RS121918133 |
BCAM
|
Health Risk |
Pathogenic |
BLOOD GROUP--LUTHERAN NULL, BLOOD GROUP--LUTHERAN NULL |
| RS121918134 |
NDUFAF3
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 18 |
| RS121918135 |
NDUFAF3
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 18 |
| RS121918136 |
NDUFAF3
|
Health Risk |
Pathogenic |
Mitochondrial complex I deficiency, nuclear type 18 |
| RS121918137 |
RNASET2
|
Health Risk |
Pathogenic |
Cystic leukoencephalopathy without megalencephaly, Cystic leukoencephalopathy without megalencephaly |
| RS121918138 |
IYD
|
Health Risk |
Likely pathogenic |
Iodotyrosine deiodination defect, IYD-related disorder |
| RS121918139 |
IYD
|
Health Risk |
Likely pathogenic |
Iodotyrosine deiodination defect, Iodotyrosine deiodination defect |
| RS121918140 |
IYD
|
Health Risk |
Pathogenic/Likely pathogenic |
Iodotyrosine deiodination defect, Iodotyrosine deiodination defect |
| RS121918141 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918142 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918143 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918144 |
PROC
|
Health Risk |
Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918145 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918146 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918147 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918148 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918149 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918150 |
PROC
|
Health Risk |
Conflicting classifications of pathogenicity |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918151 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918152 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918153 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918154 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918155 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918156 |
PROC
|
Health Risk |
Conflicting classifications of pathogenicity |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918157 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal recessive |
| RS121918158 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918159 |
PROC
|
Health Risk |
Pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918160 |
PROC
|
Health Risk |
Pathogenic/Likely pathogenic |
Thrombophilia due to protein C deficiency, autosomal dominant |
| RS121918163 |
FANCI
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group I, Fanconi anemia |
| RS121918164 |
FANCI;POLG
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group I, Fanconi anemia |
| RS121918165 |
LCA5
|
Health Risk |
Pathogenic |
Leber congenital amaurosis 5, Inborn genetic diseases |
| RS121918166 |
OCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinase-positive oculocutaneous albinism, Inborn genetic diseases |
| RS121918167 |
OCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS121918168 |
OCA2
|
Health Risk |
Pathogenic |
Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS121918169 |
OCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS121918170 |
OCA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1 |
| RS121918172 |
GUSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918173 |
GUSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 7, Non-immune hydrops fetalis |
| RS121918174 |
GUSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918175 |
GUSB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918176 |
GUSB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918177 |
GUSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918179 |
GUSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918180 |
GUSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918181 |
GUSB
|
Health Risk |
Pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 6 |
| RS121918182 |
GUSB
|
Health Risk |
Conflicting classifications of pathogenicity |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918183 |
GUSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7 |
| RS121918184 |
GUSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 7, GUSB-related disorder |
| RS121918185 |
GUSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 7, Non-immune hydrops fetalis |
| RS121918188 |
FBP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918189 |
FBP1
|
Health Risk |
Pathogenic |
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918190 |
FBP1
|
Health Risk |
Pathogenic |
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918191 |
FBP1
|
Health Risk |
Pathogenic |
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918192 |
FBP1
|
Health Risk |
Pathogenic |
Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency |
| RS121918193 |
PFKM
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type VII |
| RS121918195 |
PFKM
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type VII |
| RS121918196 |
PFKM
|
Health Risk |
Pathogenic |
Glycogen storage disease, type VII |
| RS121918197 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, RPGRIP1L-related disorder |
| RS121918198 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome |
| RS121918199 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Joubert syndrome |
| RS121918200 |
RPGRIP1L
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 7, Joubert syndrome |
| RS121918201 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Meckel syndrome, type 5 |
| RS121918202 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Meckel syndrome, type 5 |