| RS2547031222 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547031379 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547031508 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547031611 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547031624 |
ASPH
|
Health Risk |
Pathogenic |
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome |
| RS2547031773 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547037218 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547037313 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547037350 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547037386 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547038533 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547038579 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547038612 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547042246 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547042277 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547042312 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547043262 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547052413 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547052455 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547052544 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547052584 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2547053369 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547053574 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547056814 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547056904 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547056929 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547057003 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547057248 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547057655 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547057694 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547057734 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS2547061538 |
BAZ2B
|
Health Risk |
Likely pathogenic |
BAZ2B-related disorder, BAZ2B-related disorder |
| RS2547062066 |
STING1
|
Health Risk |
Pathogenic |
STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS2547063044 |
STING1
|
Health Risk |
Likely pathogenic |
STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS2547063045 |
STING1
|
Health Risk |
Likely pathogenic |
STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy |
| RS2547067845 |
CPLANE1
|
Health Risk |
Likely pathogenic |
Orofaciodigital syndrome type 6, Joubert syndrome 17 |
| RS2547068431 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547068554 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547068751 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547069104 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547078813 |
MEF2C
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2547087393 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547087643 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547087810 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS2547087818 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547088106 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547088109 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547088447 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2547089089 |
MEF2C
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with hypotonia, stereotypic hand movements |
| RS2547089292 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547089340 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547089395 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547089550 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547089705 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547090542 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547091579 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547091584 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547091952 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547091970 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547092303 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547093065 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547093213 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547093291 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547093815 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547093975 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2547094272 |
LARGE1
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6 |
| RS2547094760 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547094911 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547094995 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, ATM-related cancer predisposition |
| RS2547095136 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2547095237 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547095723 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547095899 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Familial cancer of breast |
| RS2547096053 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547096149 |
ATM
|
Health Risk |
Pathogenic |
Gastric cancer, Gastric cancer |
| RS2547096529 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547096648 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547096866 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547097205 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2547097344 |
ATM
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Ataxia-telangiectasia syndrome |
| RS2547097486 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome |
| RS2547108707 |
DHX37
|
Health Risk |
Likely pathogenic |
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2547113605 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547113773 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547114179 |
DHX37
|
Health Risk |
Likely pathogenic |
Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation |
| RS2547114306 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547114959 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547115063 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547115626 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547116617 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547116837 |
ATM
|
Health Risk |
Pathogenic |
Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome |
| RS2547117066 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547117301 |
ATM
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2547117327 |
ATM
|
Health Risk |
Pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2547117562 |
ATM
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2547120231 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3 |
| RS2547121857 |
ARID1B
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2547122632 |
ARID1B
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2547123498 |
DIABLO
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 64, Autosomal dominant nonsyndromic hearing loss 64 |
| RS2547124143 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |