| RS386833909 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833910 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833911 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833912 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833913 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833914 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833915 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, NPHS1-related disorder |
| RS386833916 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833917 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833918 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833919 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833920 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833921 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833922 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833923 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833924 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833925 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833926 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833927 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833928 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833929 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833930 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833931 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833932 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833933 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833935 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833937 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833938 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833939 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833940 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833941 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833942 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833943 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833944 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833945 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Steroid-resistant nephrotic syndrome |
| RS386833946 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833947 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Nephrotic syndrome |
| RS386833948 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833949 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833950 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833951 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833952 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833953 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833954 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833955 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833957 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833958 |
NPHS1
|
Health Risk |
Pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833959 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Inborn genetic diseases |
| RS386833960 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833961 |
NPHS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833962 |
NPHS1
|
Health Risk |
Likely pathogenic |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS386833963 |
CLN5
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833964 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833965 |
CLN5
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833966 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833967 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833968 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833969 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833970 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833971 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833972 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833973 |
CLN5
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833974 |
CLN5
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833975 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833977 |
CLN5
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833978 |
CLN5
|
Health Risk |
Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5 |
| RS386833979 |
CLN5
|
Health Risk |
Pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833980 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833981 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833982 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833983 |
CLN5
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis |
| RS386833984 |
KERA
|
Health Risk |
Conflicting classifications of pathogenicity |
Cornea plana 2, Cornea plana 2 |
| RS386833985 |
KERA
|
Health Risk |
Likely pathogenic |
Cornea plana 2, Cornea plana 2 |
| RS386833986 |
KERA
|
Health Risk |
Pathogenic |
Cornea plana 2, Cornea plana 2 |
| RS386833987 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |
| RS386833988 |
SLC17A5
|
Health Risk |
Pathogenic |
Salla disease, Salla disease |
| RS386833989 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS386833990 |
SLC17A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS386833991 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS386833992 |
SLC17A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Salla disease, Sialic acid storage disease |
| RS386833993 |
SLC17A5
|
Health Risk |
Pathogenic/Likely pathogenic |
Salla disease, Salla disease |
| RS386833994 |
SLC17A5
|
Health Risk |
Pathogenic |
Sialic acid storage disease, severe infantile type |
| RS386833995 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS386833996 |
SLC17A5
|
Health Risk |
Likely pathogenic |
Salla disease, Salla disease |
| RS386833998 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Meckel syndrome, type 5 |
| RS386833999 |
TRIM37
|
Health Risk |
Likely pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834000 |
TRIM37
|
Health Risk |
Pathogenic/Likely pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834001 |
TRIM37
|
Health Risk |
Pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834002 |
TRIM37
|
Health Risk |
Pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834003 |
TRIM37
|
Health Risk |
Pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834004 |
TRIM37
|
Health Risk |
Conflicting classifications of pathogenicity |
Mulibrey nanism syndrome, TRIM37-related disorder |
| RS386834005 |
TRIM37
|
Health Risk |
Pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834006 |
TRIM37
|
Health Risk |
Pathogenic/Likely pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834007 |
TRIM37
|
Health Risk |
Pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834008 |
TRIM37
|
Health Risk |
Likely pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834009 |
TRIM37
|
Health Risk |
Likely pathogenic |
Mulibrey nanism syndrome, Mulibrey nanism syndrome |
| RS386834010 |
POMGNT1
|
Health Risk |
Likely pathogenic |
Muscle eye brain disease, Autosomal recessive limb-girdle muscular dystrophy type 2O |
| RS386834012 |
POMGNT1
|
Health Risk |
Pathogenic |
Muscle eye brain disease, POMGNT1-related disorder |
| RS386834013 |
POMGNT1
|
Health Risk |
Likely pathogenic |
Muscle eye brain disease, Muscle eye brain disease |
| RS386834014 |
POMGNT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Muscle eye brain disease, Retinitis pigmentosa 76 |