| RS2469677416 |
COL4A3
|
Health Risk |
Pathogenic |
Alport syndrome 3b, autosomal recessive |
| RS2469677840 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469678006 |
NHEJ1
|
Health Risk |
Pathogenic |
Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS2469682711 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469683799 |
ALS2
|
Health Risk |
Likely pathogenic |
Tip-toe gait, Tip-toe gait |
| RS2469683983 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469684210 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469684422 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Autosomal dominant Alport syndrome |
| RS2469684566 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469684664 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469684718 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469685114 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469685375 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469686143 |
TRIP12
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2469686850 |
PDE6D
|
Health Risk |
Pathogenic |
Joubert syndrome 22, Joubert syndrome 22 |
| RS2469686948 |
TRAF3IP1
|
Health Risk |
Likely pathogenic |
— |
| RS2469687265 |
TRIP12
|
Health Risk |
Likely pathogenic |
Clark-Baraitser syndrome, Clark-Baraitser syndrome |
| RS2469690862 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2469694284 |
ERBB4
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2469694543 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469694604 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469695739 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469696390 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469698057 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469698058 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469698122 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469699325 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469699400 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469699523 |
COL4A3
|
Health Risk |
Likely pathogenic |
COL4A3-related disorder, Hematuria |
| RS2469699545 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, 6 conditions |
| RS2469699666 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Alport syndrome, Inborn genetic diseases |
| RS2469700028 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome |
| RS2469700235 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469700370 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469700927 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469701095 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469701504 |
PRSS56
|
Health Risk |
Pathogenic |
Isolated microphthalmia 6, Isolated microphthalmia 6 |
| RS2469703186 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS2469705706 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469710162 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469712512 |
CHRND
|
Health Risk |
Pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469713965 |
TTN
|
Health Risk |
Pathogenic |
— |
| RS2469717681 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469718292 |
CHRND
|
Health Risk |
Pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469719131 |
CTLA4
|
Health Risk |
Likely pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719176 |
CHRND
|
Health Risk |
Likely pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469719282 |
CTLA4
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719311 |
CTLA4
|
Health Risk |
Likely pathogenic |
Immunodeficiency, common variable |
| RS2469719636 |
CTLA4
|
Health Risk |
Likely pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719657 |
CTLA4
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719710 |
CTLA4
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469719729 |
CTLA4
|
Health Risk |
Pathogenic |
CTLA4-related disorder, CTLA4-related disorder |
| RS2469720798 |
CTLA4
|
Health Risk |
Pathogenic |
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency |
| RS2469722765 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469723376 |
CHRND
|
Health Risk |
Pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469723579 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2469724141 |
COL4A3
|
Health Risk |
Likely pathogenic |
Alport syndrome, Alport syndrome |
| RS2469724450 |
ALS2
|
Health Risk |
Likely pathogenic |
Amyotrophic lateral sclerosis type 2, juvenile |
| RS2469725831 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2469726375 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469726985 |
TTN
|
Health Risk |
Likely pathogenic |
Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy |
| RS2469730194 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469730914 |
BMPR2
|
Health Risk |
Pathogenic |
Primary pulmonary hypertension, Primary pulmonary hypertension |
| RS2469731148 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469731988 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469732143 |
COL4A3
|
Health Risk |
Pathogenic |
— |
| RS2469732460 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2469734144 |
ALS2
|
Health Risk |
Pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469734400 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469737388 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary hypertension, primary |
| RS2469737879 |
ARMC9
|
Health Risk |
Likely pathogenic |
— |
| RS2469740327 |
BMPR2
|
Health Risk |
Pathogenic |
— |
| RS2469743343 |
ZNF142
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements |
| RS2469745168 |
CHRNG
|
Health Risk |
Pathogenic |
Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS2469745410 |
CHRNG
|
Health Risk |
Pathogenic |
Autosomal recessive multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome |
| RS2469746315 |
CHRNG
|
Health Risk |
Likely pathogenic |
— |
| RS2469747764 |
ARMC9
|
Health Risk |
Likely pathogenic |
— |
| RS2469747787 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469748132 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2469748360 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469748448 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469748575 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469749550 |
DIS3L2
|
Health Risk |
Likely pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469749590 |
DIS3L2
|
Health Risk |
Pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469750029 |
DIS3L2
|
Health Risk |
Likely pathogenic |
Perlman syndrome, Perlman syndrome |
| RS2469750351 |
CHRNG
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469750392 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469751152 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469751257 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469751477 |
CHRNG
|
Health Risk |
Likely pathogenic |
Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome |
| RS2469753610 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469753792 |
SAG
|
Health Risk |
Likely pathogenic |
— |
| RS2469754387 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant Alport syndrome, Hematuria |
| RS2469754940 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469755431 |
CHRNG
|
Health Risk |
Likely pathogenic |
— |
| RS2469755510 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469755516 |
CHRNG
|
Health Risk |
Pathogenic |
— |
| RS2469758488 |
ALS2
|
Health Risk |
Likely pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |
| RS2469758522 |
COL4A3
|
Health Risk |
Likely pathogenic |
— |
| RS2469758597 |
ALS2
|
Health Risk |
Likely pathogenic |
Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis |