| RS121909082 |
ROR2
|
Health Risk |
Pathogenic |
Brachydactyly type B1, Brachydactyly type B1 |
| RS121909083 |
ROR2
|
Health Risk |
Pathogenic |
Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS121909084 |
ROR2
|
Health Risk |
Likely pathogenic |
Autosomal recessive Robinow syndrome, Brachydactyly type B1 |
| RS121909085 |
ROR2
|
Health Risk |
Pathogenic |
Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS121909086 |
ROR2
|
Health Risk |
Pathogenic |
Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS121909087 |
ROR2
|
Health Risk |
Pathogenic |
Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS121909088 |
DNM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease, dominant intermediate B |
| RS121909089 |
DNM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant centronuclear myopathy, Centronuclear myopathy |
| RS121909090 |
DNM2
|
Health Risk |
Pathogenic |
Autosomal dominant centronuclear myopathy, Centronuclear myopathy |
| RS121909091 |
DNM2
|
Health Risk |
Pathogenic |
Autosomal dominant centronuclear myopathy, Centronuclear myopathy |
| RS121909092 |
DNM2
|
Health Risk |
Pathogenic |
Autosomal dominant centronuclear myopathy, Centronuclear myopathy |
| RS121909093 |
DNM2
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Charcot-Marie-Tooth disease type 2M, Charcot-Marie-Tooth disease |
| RS121909094 |
DNM2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant Charcot-Marie-Tooth disease type 2M, Charcot-Marie-Tooth disease |
| RS121909095 |
DNM2
|
Health Risk |
Pathogenic |
Severe X-linked myotubular myopathy, Centronuclear myopathy |
| RS121909098 |
ATP8B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Progressive familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1 |
| RS121909099 |
ATP8B1
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS121909100 |
ATP8B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Benign recurrent intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS121909101 |
ATP8B1
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 1, ATP8B1-related disorder |
| RS121909103 |
ATP8B1
|
Health Risk |
Pathogenic |
Cholestasis, intrahepatic |
| RS121909104 |
ATP8B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1 |
| RS121909105 |
ATP8B1
|
Health Risk |
Pathogenic |
Progressive familial intrahepatic cholestasis type 1, Familial intrahepatic cholestasis type 1 |
| RS121909106 |
FOXC2
|
Health Risk |
Likely pathogenic |
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS121909107 |
FOXC2
|
Health Risk |
Pathogenic |
Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome |
| RS121909109 |
PITX1
|
Health Risk |
Pathogenic |
Clubfoot, Clubfoot |
| RS121909110 |
ESRRB
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS121909111 |
ESRRB
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35 |
| RS121909112 |
HSPB1
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS121909113 |
HSPB1
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS121909114 |
ECM1
|
Health Risk |
Pathogenic |
Lipid proteinosis, Lipid proteinosis |
| RS121909115 |
ECM1
|
Health Risk |
Pathogenic |
Lipid proteinosis, Lipid proteinosis |
| RS121909116 |
ECM1
|
Health Risk |
Likely pathogenic |
Lipid proteinosis, Lipid proteinosis |
| RS121909117 |
SOX10
|
Health Risk |
Pathogenic |
Waardenburg syndrome type 4C, Waardenburg syndrome type 4C |
| RS121909118 |
SCARB2
|
Health Risk |
Pathogenic |
Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS121909119 |
SCARB2
|
Health Risk |
Pathogenic |
Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS121909120 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Severe intellectual deficiency |
| RS121909121 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Malignant tumor of esophagus |
| RS121909122 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Corneal dystrophy |
| RS121909123 |
TCF4
|
Health Risk |
Pathogenic |
Pitt-Hopkins syndrome, Pitt-Hopkins syndrome |
| RS121909124 |
GUCA1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa 48, Retinal dystrophy |
| RS121909127 |
RAX
|
Health Risk |
Pathogenic |
Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS121909128 |
RAX
|
Health Risk |
Pathogenic |
Isolated microphthalmia 3, Isolated microphthalmia 3 |
| RS121909129 |
KRT86
|
Health Risk |
Pathogenic |
Monilethrix, Monilethrix |
| RS121909130 |
KRT86
|
Health Risk |
Pathogenic |
Monilethrix, Monilethrix |
| RS121909131 |
CLCNKB
|
Health Risk |
Pathogenic |
Bartter disease type 3, Bartter disease type 3 |
| RS121909132 |
CLCNKB
|
Health Risk |
Pathogenic/Likely pathogenic |
Bartter disease type 3, Bartter disease type 4B |
| RS121909133 |
CLCNKB
|
Health Risk |
Pathogenic |
Bartter disease type 3, Bartter disease type 4B |
| RS121909134 |
CLCNKB
|
Health Risk |
Pathogenic |
Bartter disease type 3, Bartter disease type 3 |
| RS121909135 |
CLCNKB
|
Health Risk |
Pathogenic |
Bartter disease type 3, Bartter disease type 3 |
| RS121909136 |
CLCNKB
|
Health Risk |
Pathogenic |
Bartter syndrome, type 3 |
| RS121909137 |
CLCNKA
|
Health Risk |
Pathogenic |
Bartter disease type 4B, Bartter disease type 4B |
| RS121909138 |
CLCNKA
|
Health Risk |
Pathogenic |
Bartter disease type 4B, Bartter disease type 4B |
| RS121909139 |
KLF6
|
Health Risk |
Pathogenic |
Prostate cancer, somatic |
| RS121909140 |
KLF6
|
Health Risk |
Pathogenic |
Prostate cancer, somatic |
| RS121909141 |
KLF6
|
Health Risk |
Pathogenic |
Prostate cancer, somatic |
| RS121909142 |
KLF6
|
Health Risk |
Pathogenic |
Prostate cancer, somatic |
| RS121909143 |
KLF6
|
Health Risk |
Pathogenic |
Prostate cancer, somatic |
| RS121909144 |
KLF6
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS121909145 |
LTBP3
|
Health Risk |
Pathogenic |
Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome |
| RS121909146 |
SH3BP2
|
Health Risk |
Pathogenic |
Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS121909149 |
SH3BP2
|
Health Risk |
Pathogenic |
Fibrous dysplasia of jaw, Fibrous dysplasia of jaw |
| RS121909151 |
PEX7
|
Health Risk |
Pathogenic/Likely pathogenic |
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B |
| RS121909152 |
PEX7
|
Health Risk |
Pathogenic/Likely pathogenic |
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B |
| RS121909153 |
PEX7
|
Health Risk |
Pathogenic |
Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B |
| RS121909154 |
PEX7
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1 |
| RS121909174 |
SLC5A5
|
Health Risk |
Pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS121909175 |
SLC5A5
|
Health Risk |
Pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS121909176 |
SLC5A5
|
Health Risk |
Likely pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS121909177 |
SLC5A5
|
Health Risk |
Pathogenic |
Thyroid dyshormonogenesis 1, SLC5A5-related disorder |
| RS121909178 |
SLC5A5
|
Health Risk |
Pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS121909179 |
SLC5A5
|
Health Risk |
Pathogenic |
Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1 |
| RS121909180 |
SLC5A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Thyroid dyshormonogenesis 1, Congenital hypothyroidism |
| RS121909181 |
ABCA3
|
Health Risk |
Pathogenic |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS121909182 |
ABCA3
|
Health Risk |
Pathogenic |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS121909183 |
ABCA3
|
Health Risk |
Pathogenic |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS121909184 |
ABCA3
|
Health Risk |
Pathogenic |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS121909186 |
TWIST1
|
Health Risk |
Pathogenic |
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS121909187 |
TWIST1
|
Health Risk |
Pathogenic |
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS121909188 |
TWIST1
|
Health Risk |
Pathogenic |
Saethre-Chotzen syndrome, TWIST1-related craniosynostosis |
| RS121909189 |
TWIST1
|
Health Risk |
Pathogenic |
Saethre-Chotzen syndrome, Saethre-Chotzen syndrome |
| RS121909190 |
TWIST1
|
Health Risk |
Pathogenic |
TWIST1-related craniosynostosis, TWIST1-related craniosynostosis |
| RS121909192 |
SMN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Spinal muscular atrophy, modifier of |
| RS121909193 |
MYOC
|
Health Risk |
Pathogenic |
Glaucoma 1, open angle |
| RS121909194 |
MYOC
|
Health Risk |
Likely pathogenic |
Glaucoma 1, open angle |
| RS121909195 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootorenal syndrome 1, Rare genetic deafness |
| RS121909196 |
EYA1
|
Health Risk |
Pathogenic/Likely pathogenic |
Branchiootorenal syndrome 1, Rare genetic deafness |
| RS121909197 |
EYA1
|
Health Risk |
Pathogenic |
Anterior segment anomalies and cataract, Anterior segment anomalies and cataract |
| RS121909198 |
EYA1
|
Health Risk |
Pathogenic |
Abnormal anterior chamber morphology, Abnormal anterior chamber morphology |
| RS121909199 |
EYA1
|
Health Risk |
Conflicting classifications of pathogenicity |
Branchiootorenal syndrome with cataract, Otofaciocervical syndrome 1 |
| RS121909200 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootorenal syndrome 1, Melnick-Fraser syndrome |
| RS121909201 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootorenal syndrome 1, Branchiootorenal syndrome 1 |
| RS121909202 |
EYA1
|
Health Risk |
Pathogenic |
Branchiootic syndrome 1, Branchiootorenal syndrome 1 |
| RS121909205 |
ABCA4
|
Health Risk |
Pathogenic |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS121909206 |
ABCA4
|
Health Risk |
Pathogenic |
Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy |
| RS121909207 |
ABCA4
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe early-childhood-onset retinal dystrophy, Retinal dystrophy |
| RS121909208 |
TGFBI
|
Health Risk |
Pathogenic |
Groenouw corneal dystrophy type I, 7 conditions |
| RS121909209 |
TGFBI
|
Health Risk |
Pathogenic |
Thiel-Behnke corneal dystrophy, Thiel-Behnke corneal dystrophy |
| RS121909210 |
TGFBI
|
Health Risk |
Pathogenic |
Lattice corneal dystrophy Type I, Epithelial-stromal TGFBI dystrophy |
| RS121909211 |
TGFBI
|
Health Risk |
Pathogenic |
Avellino corneal dystrophy, Reis-Bucklers' corneal dystrophy |
| RS121909212 |
TGFBI
|
Health Risk |
Pathogenic/Likely pathogenic |
Corneal dystrophy, lattice type 3A |
| RS121909214 |
TGFBI
|
Health Risk |
Pathogenic |
Corneal dystrophy, lattice type 3A |