| RS2128151491 |
PKHD1
|
Health Risk |
Likely pathogenic |
Renal cyst, Renal cyst |
| RS2128151635 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128152615 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2128153381 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128163307 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128169165 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128169501 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2128182593 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128182780 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128182991 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128184202 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128186439 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2128188269 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2128192920 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128193153 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2128196788 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2128196889 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128197058 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128200575 |
HYCC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2128203303 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128203385 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128203474 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128203606 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128203862 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128203970 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128203974 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128209217 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128210848 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128210922 |
ARID1B
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128210949 |
ARID1B
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128210962 |
ARID1B
|
Health Risk |
Pathogenic |
ARID1B-related BAFopathy, ARID1B-related BAFopathy |
| RS2128212671 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128215604 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128215670 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128223979 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128223990 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128224166 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128229167 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2128229183 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128231798 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128231878 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128231908 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128233864 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128233941 |
PKHD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2128236766 |
PKHD1
|
Health Risk |
Pathogenic |
Enlarged kidney, Hyperechogenic kidneys |
| RS2128236801 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128236822 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128238503 |
RARS2
|
Health Risk |
Pathogenic |
Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6 |
| RS2128240429 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128240446 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128241170 |
ACTB
|
Health Risk |
Conflicting classifications of pathogenicity |
ACTB-related BAFopathy, Baraitser-Winter syndrome 1 |
| RS2128241236 |
ACTB
|
Health Risk |
Likely pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS2128241271 |
ACTB
|
Health Risk |
Conflicting classifications of pathogenicity |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS2128241275 |
ACTB
|
Health Risk |
Likely pathogenic |
Developmental malformations-deafness-dystonia syndrome, Baraitser-Winter syndrome 1 |
| RS2128241289 |
ACTB
|
Health Risk |
Pathogenic |
— |
| RS2128241291 |
ACTB
|
Health Risk |
Likely pathogenic |
ACTB-related disorder, ACTB-related disorder |
| RS2128241293 |
ACTB
|
Health Risk |
Pathogenic |
— |
| RS2128241296 |
ACTB
|
Health Risk |
Conflicting classifications of pathogenicity |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS2128241302 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, BECKER NEVUS |
| RS2128241303 |
ACTB
|
Health Risk |
Pathogenic |
Congenital smooth muscle hamartoma, CONGENITAL SMOOTH MUSCLE HAMARTOMA |
| RS2128241304 |
ACTB
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital smooth muscle hamartoma, CONGENITAL SMOOTH MUSCLE HAMARTOMA |
| RS2128241387 |
ACTB
|
Health Risk |
Pathogenic |
— |
| RS2128241389 |
ACTB
|
Health Risk |
Likely pathogenic |
Congenital smooth muscle hamartoma, Congenital smooth muscle hamartoma |
| RS2128241408 |
ACTB
|
Health Risk |
Pathogenic/Likely pathogenic |
Baraitser-Winter syndrome 1, Developmental malformations-deafness-dystonia syndrome |
| RS2128241410 |
ACTB
|
Health Risk |
Likely pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS2128241411 |
ACTB
|
Health Risk |
Pathogenic |
Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1 |
| RS2128241449 |
ACTB
|
Health Risk |
Conflicting classifications of pathogenicity |
Baraitser-Winter syndrome 1, ACTB-related disorder |
| RS2128241451 |
ACTB
|
Health Risk |
Likely pathogenic |
ACTB-related BAFopathy, Baraitser-Winter syndrome 1 |
| RS2128241455 |
ACTB
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2128246846 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128268726 |
EYA4
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS2128275227 |
ARID1B
|
Health Risk |
Pathogenic |
ARID1B-related BAFopathy, ARID1B-related BAFopathy |
| RS2128290268 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128302580 |
COXFA4
|
Health Risk |
Likely pathogenic |
— |
| RS2128303803 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128305623 |
ARID1B
|
Health Risk |
Conflicting classifications of pathogenicity |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128316571 |
ARID1B
|
Health Risk |
Pathogenic |
ARID1B-related BAFopathy, ARID1B-related BAFopathy |
| RS2128316690 |
ARID1B
|
Health Risk |
Pathogenic |
ARID1B-related BAFopathy, ARID1B-related BAFopathy |
| RS2128317232 |
ARID1B
|
Health Risk |
Pathogenic |
— |
| RS2128317569 |
ARID1B
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128317822 |
ARID1B
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2128321525 |
CRPPA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2U, Autosomal recessive limb-girdle muscular dystrophy type 2U |
| RS2128321527 |
CRPPA
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS2128321556 |
CRPPA
|
Health Risk |
Likely pathogenic |
— |
| RS2128325330 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128325428 |
ARID1B
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128325440 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128325633 |
ARID1B
|
Health Risk |
Pathogenic |
— |
| RS2128325966 |
BBS9
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 9, Bardet-Biedl syndrome |
| RS2128325986 |
ARID1B
|
Health Risk |
Pathogenic |
ARID1B-related BAFopathy, ARID1B-related BAFopathy |
| RS2128330405 |
PRKN
|
Health Risk |
Pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS2128338892 |
ARID1B
|
Health Risk |
Pathogenic |
— |
| RS2128339720 |
ARID1B
|
Health Risk |
Pathogenic |
— |
| RS2128339990 |
ARID1B
|
Health Risk |
Pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128344292 |
ERMARD
|
Health Risk |
Likely pathogenic |
Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6 |
| RS2128344662 |
BBS9
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2128344706 |
BBS9
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2128345173 |
BBS9
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, Abnormality of the eye |
| RS2128355925 |
ARID1B
|
Health Risk |
Likely pathogenic |
Coffin-Siris syndrome 1, Coffin-Siris syndrome 1 |
| RS2128357041 |
ARID1B
|
Health Risk |
Pathogenic |
— |