| RS2469293517 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469294833 |
COL5A2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS2469295166 |
COL5A2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS2469295446 |
CPS1
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, neonatal |
| RS2469295737 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469295766 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469296541 |
ABCA12
|
Health Risk |
Likely pathogenic |
— |
| RS2469296980 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469297748 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469299349 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469301648 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469301824 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469302360 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469304171 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2469305827 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2469305888 |
ABCA12
|
Health Risk |
Likely pathogenic |
— |
| RS2469306058 |
COL5A2
|
Health Risk |
Likely pathogenic |
COL5A2-related disorder, COL5A2-related disorder |
| RS2469306279 |
COL5A2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS2469307457 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469307907 |
COL5A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS2469308872 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469309035 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469311319 |
CPS1
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, neonatal |
| RS2469311320 |
CPS1
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, neonatal |
| RS2469311420 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469311449 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469311469 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469311652 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469311670 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469312913 |
ABCA12
|
Health Risk |
Pathogenic |
— |
| RS2469313073 |
ABCA12
|
Health Risk |
Pathogenic |
— |
| RS2469314469 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469314500 |
COL5A2
|
Health Risk |
Likely pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS2469315499 |
ABCA12
|
Health Risk |
Pathogenic |
— |
| RS2469316011 |
ABCA12
|
Health Risk |
Pathogenic |
— |
| RS2469317919 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469318259 |
ABCA12
|
Health Risk |
Pathogenic |
— |
| RS2469318367 |
ABCA12
|
Health Risk |
Pathogenic |
— |
| RS2469318845 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469319050 |
CPS1
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, neonatal |
| RS2469319058 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469320064 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469320949 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469321089 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469321920 |
COL5A2
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, classic type |
| RS2469322121 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2469323427 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469325981 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469326727 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469326851 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469329299 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469331182 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469332282 |
ANKRD44
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with hypotonia, seizures |
| RS2469332489 |
CPS1
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, neonatal |
| RS2469332548 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469332659 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469332697 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469332928 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469333132 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469333342 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469335003 |
ABCA12
|
Health Risk |
Likely pathogenic |
— |
| RS2469336053 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469336350 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469336512 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469337078 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469337161 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469337481 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469337523 |
BARD1
|
Health Risk |
Likely pathogenic |
Gastric cancer, Familial cancer of breast |
| RS2469337779 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial cancer of breast |
| RS2469337978 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469338019 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469338042 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469338125 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469338226 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469338229 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS2469338532 |
BARD1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2469338564 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469339814 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469339987 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469340233 |
CPS1
|
Health Risk |
Likely pathogenic |
Congenital hyperammonemia, type I |
| RS2469340389 |
CPS1
|
Health Risk |
Likely pathogenic |
Pulmonary hypertension, neonatal |
| RS2469340581 |
ABCA12
|
Health Risk |
Pathogenic |
— |
| RS2469341667 |
BARD1
|
Health Risk |
Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469342079 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469342130 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469342140 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469342544 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469342786 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469342920 |
BARD1
|
Health Risk |
Pathogenic |
Ovarian cancer, Hereditary cancer-predisposing syndrome |
| RS2469342952 |
BARD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469343013 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469343074 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469343545 |
BARD1
|
Health Risk |
Pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS2469351656 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469351716 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2469352999 |
TTN;TTN-AS1
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2469353500 |
TTN
|
Health Risk |
Likely pathogenic |
Primary familial dilated cardiomyopathy, Cardiovascular phenotype |
| RS2469355092 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2469357366 |
CPS1
|
Health Risk |
Pathogenic |
Congenital hyperammonemia, type I |
| RS2469357528 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |