| RS2469758704 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2469758753 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469759449 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469759620 |
TRIP12
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2469759634 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469759941 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469760075 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469765655 |
SAG
|
Health Risk |
Likely pathogenic |
Oguchi disease-1, Oguchi disease-1 |
| RS2469768159 |
ALS2
|
Health Risk |
Likely pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469769276 |
COL4A3
|
Health Risk |
Likely pathogenic |
Alport syndrome 3b, autosomal recessive |
| RS2469769803 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469769923 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
COL4A3-related disorder, COL4A3-related disorder |
| RS2469770082 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
COL4A3-related disorder, Autosomal dominant Alport syndrome |
| RS2469770211 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469770662 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469770966 |
COL4A3
|
Health Risk |
Likely pathogenic |
Kidney disorder, Inborn genetic diseases |
| RS2469774653 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469777230 |
MBD5
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469777382 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469778064 |
MBD5
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469778085 |
MBD5
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2469778111 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469779404 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469779530 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469779686 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469780330 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469780591 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469780660 |
ICOS
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS2469783874 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469784078 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469784298 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469784497 |
COL6A3
|
Health Risk |
Likely pathogenic |
Tip-toe gait, Tip-toe gait |
| RS2469784657 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469787511 |
COL6A3
|
Health Risk |
Likely pathogenic |
Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A |
| RS2469787965 |
COL6A3
|
Health Risk |
Likely pathogenic |
Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A |
| RS2469789534 |
SAG
|
Health Risk |
Pathogenic |
— |
| RS2469791965 |
COL6A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469792629 |
ARMC9
|
Health Risk |
Pathogenic |
— |
| RS2469794297 |
ITPR1
|
Health Risk |
Pathogenic/Likely pathogenic |
Gillespie syndrome, Gillespie syndrome |
| RS2469795686 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469799960 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1C, Bethlem myopathy 1C |
| RS2469800384 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469801033 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469802743 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469804002 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469805035 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2469805793 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469805839 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469806182 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2469806956 |
ICOS
|
Health Risk |
Likely pathogenic |
Immunodeficiency, common variable |
| RS2469807349 |
ICOS
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS2469807419 |
ICOS
|
Health Risk |
Pathogenic |
Immunodeficiency, common variable |
| RS2469808157 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469808233 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469808710 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469812571 |
KCNJ13
|
Health Risk |
Likely pathogenic |
— |
| RS2469815004 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469815268 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469815729 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469816176 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469816514 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Alport syndrome, Alport syndrome |
| RS2469818121 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Dilated cardiomyopathy 1G |
| RS2469818734 |
MBD5
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469818769 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Cardiomyopathy |
| RS2469819060 |
MBD5
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469819229 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1C |
| RS2469819703 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469819739 |
MBD5
|
Health Risk |
Likely pathogenic |
— |
| RS2469819993 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469825284 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469825743 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469826202 |
SUMF1
|
Health Risk |
Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469828189 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469828350 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469829167 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469829443 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469829894 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469837328 |
ARMC9
|
Health Risk |
Pathogenic |
— |
| RS2469845990 |
COL6A3
|
Health Risk |
Pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469848385 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469848433 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469848450 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469848634 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469848763 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469848895 |
DIS3L2
|
Health Risk |
Likely pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469849677 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469850008 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469850303 |
COL4A3
|
Health Risk |
Pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469850410 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469851258 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469852440 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469852897 |
SUMF1
|
Health Risk |
Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469852909 |
ALS2
|
Health Risk |
Likely pathogenic |
Amyotrophic lateral sclerosis type 2, juvenile |
| RS2469852998 |
SUMF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469853388 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469853491 |
SUMF1
|
Health Risk |
Pathogenic |
Multiple sulfatase deficiency, Multiple sulfatase deficiency |
| RS2469854313 |
COL6A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469855647 |
MBD5
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 1 |
| RS2469856775 |
COL6A3
|
Health Risk |
Likely pathogenic |
Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469857480 |
MBD5
|
Health Risk |
Likely pathogenic |
— |