| RS1554361584 |
SLC26A4
|
Health Risk |
Pathogenic |
Pendred syndrome, Pendred syndrome |
| RS1554361624 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Pendred syndrome, Pendred syndrome |
| RS1554362735 |
SLC26A4
|
Health Risk |
Pathogenic |
Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4 |
| RS1554362779 |
SLC26A4
|
Health Risk |
Pathogenic |
— |
| RS1554362815 |
SLC26A4
|
Health Risk |
Likely pathogenic |
Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4 |
| RS1554363883 |
RINT1
|
Health Risk |
Pathogenic |
— |
| RS1554365507 |
CCM2
|
Health Risk |
Likely pathogenic |
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2 |
| RS1554365511 |
CCM2
|
Health Risk |
Pathogenic |
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2 |
| RS1554365577 |
CCM2
|
Health Risk |
Pathogenic |
— |
| RS1554366766 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554366802 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554367205 |
RELN
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial temporal lobe epilepsy 7, Norman-Roberts syndrome |
| RS1554367284 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B |
| RS1554367358 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554368097 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554369227 |
PEX1
|
Health Risk |
Likely pathogenic |
— |
| RS1554369234 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS1554370868 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554371369 |
CRPPA
|
Health Risk |
Pathogenic/Likely pathogenic |
Muscular dystrophy-dystroglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2U |
| RS1554372048 |
SYNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive ataxia, Beauce type |
| RS1554372074 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554372180 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS1554372561 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS1554372756 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554373578 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554373787 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554373801 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554375233 |
CCM2
|
Health Risk |
Pathogenic |
— |
| RS1554375511 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554375599 |
PEX1
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS1554375661 |
PEX1
|
Health Risk |
Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1A (Zellweger) |
| RS1554375870 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS1554376597 |
PEX1
|
Health Risk |
Pathogenic/Likely pathogenic |
Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders |
| RS1554377262 |
AP4M1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50 |
| RS1554377652 |
CCM2
|
Health Risk |
Likely pathogenic |
Cerebral cavernous malformation 2, Cerebral cavernous malformation 2 |
| RS1554378434 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1554379158 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Renal cell carcinoma |
| RS1554379846 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554379887 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554379899 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554380093 |
AP4M1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1554380311 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554380391 |
AP4M1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 50, Spastic paraplegia |
| RS1554380465 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554380493 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS1554380497 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS1554380515 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554380789 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554380828 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554381596 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554381605 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1554382608 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colon cancer, Hereditary pancreatitis |
| RS1554382653 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Hereditary pancreatitis |
| RS1554382664 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, CFTR-related disorder |
| RS1554384228 |
RUNX2
|
Health Risk |
Conflicting classifications of pathogenicity |
Cleidocranial dysostosis, Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome |
| RS1554384343 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554384382 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS1554384440 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS1554384454 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, CFTR-related disorder |
| RS1554385102 |
CAMK2B
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1554385111 |
CAMK2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 54 |
| RS1554385203 |
CAMK2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 54 |
| RS1554385305 |
CAMK2B
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1554386687 |
CAMK2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 54 |
| RS1554387293 |
CAMK2B
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 54 |
| RS1554387469 |
TAF6
|
Health Risk |
Likely pathogenic |
— |
| RS1554388867 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554389015 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554389062 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS1554389088 |
CAMK2B
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 54 |
| RS1554389241 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554389245 |
CFTR
|
Health Risk |
Conflicting classifications of pathogenicity |
Cystic fibrosis, Cystic fibrosis |
| RS1554389290 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554389296 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS1554389346 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS1554389411 |
CFTR
|
Health Risk |
Likely pathogenic |
— |
| RS1554389486 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS1554389828 |
BRAF
|
Health Risk |
Pathogenic |
— |
| RS1554389836 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554390859 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, CFTR-related disorder |
| RS1554390864 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1554390902 |
MET
|
Health Risk |
Conflicting classifications of pathogenicity |
Renal cell carcinoma, Hereditary cancer-predisposing syndrome |
| RS1554390958 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS1554391033 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation |
| RS1554391082 |
PODXL
|
Health Risk |
Likely pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS1554391454 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554391489 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Hereditary pancreatitis |
| RS1554391491 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554391793 |
IKZF1
|
Health Risk |
Likely pathogenic |
— |
| RS1554392023 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Hereditary pancreatitis |
| RS1554392027 |
CFTR
|
Health Risk |
Pathogenic/Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554392248 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554392282 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554392798 |
CFTR
|
Health Risk |
Likely pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554392800 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1 |
| RS1554392801 |
CFTR
|
Health Risk |
Pathogenic |
Cystic fibrosis, Cystic fibrosis |
| RS1554393458 |
EPO
|
Health Risk |
Pathogenic |
Erythrocytosis, familial |
| RS1554393463 |
EPO
|
Health Risk |
Pathogenic |
Erythrocytosis, familial |
| RS1554394014 |
LEP
|
Health Risk |
Likely pathogenic |
Obesity due to congenital leptin deficiency, Obesity due to congenital leptin deficiency |
| RS1554394210 |
KMT2E
|
Health Risk |
Conflicting classifications of pathogenicity |
See cases, See cases |