| RS2468764466 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2468764744 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468764836 |
TTN
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468764999 |
TTN
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2468765145 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468766895 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468771000 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468771226 |
TTN
|
Health Risk |
Likely pathogenic |
TTN-related disorder, TTN-related disorder |
| RS2468771376 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468772442 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2468776213 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468776267 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468778141 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2468780745 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468781847 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2468782120 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468782963 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468783233 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468783250 |
LOC126806462;SATB2
|
Health Risk |
Pathogenic |
SATB2 associated disorder, SATB2 associated disorder |
| RS2468783306 |
SATB2
|
Health Risk |
Likely pathogenic |
— |
| RS2468783579 |
SATB2
|
Health Risk |
Pathogenic |
SATB2-related disorder, SATB2-related disorder |
| RS2468783640 |
SATB2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2468783739 |
SATB2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2468783969 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468783982 |
SATB2
|
Health Risk |
Pathogenic |
— |
| RS2468783987 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468790570 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468791058 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468791144 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468791271 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2468791370 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2468792262 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468792746 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468793599 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468793952 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468794483 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2468794802 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS2468796175 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468798023 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468799848 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468801391 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468812406 |
TTN
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468813508 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2468814033 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468816812 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2468817188 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Primary dilated cardiomyopathy |
| RS2468817642 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468819358 |
FASTKD2
|
Health Risk |
Pathogenic |
— |
| RS2468826102 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468826608 |
REEP1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468827655 |
REEP1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2468835044 |
CRYGC
|
Health Risk |
Likely pathogenic |
Nuclear pulverulent cataract, Nuclear pulverulent cataract |
| RS2468835222 |
CRYGC
|
Health Risk |
Pathogenic |
Cataract 2, multiple types |
| RS2468837499 |
FASTKD2
|
Health Risk |
Pathogenic |
— |
| RS2468839144 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468839214 |
SATB2
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2468839265 |
SATB2
|
Health Risk |
Pathogenic |
— |
| RS2468839281 |
SATB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, SATB2-related disorder |
| RS2468839305 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468839575 |
FASTKD2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS2468842127 |
REEP1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468842177 |
REEP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468846107 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468846150 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2468846612 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468846976 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468857083 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468858080 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G |
| RS2468858249 |
TTN
|
Health Risk |
Likely pathogenic |
TTN-related disorder, TTN-related disorder |
| RS2468860840 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468861021 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468864436 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468865585 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468868208 |
SATB2
|
Health Risk |
Pathogenic |
— |
| RS2468868385 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468868422 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468868436 |
SATB2
|
Health Risk |
Likely pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468868479 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468868528 |
SATB2
|
Health Risk |
Pathogenic |
Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome |
| RS2468868556 |
MAP4K4
|
Health Risk |
Likely pathogenic |
Renal dysplasia, Imperforate anus |
| RS2468869047 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468869369 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468869425 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468869487 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2468870221 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS2468872939 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468874597 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468877626 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468884952 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468887048 |
TTN
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Dilated cardiomyopathy 1G |
| RS2468887529 |
TTN
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Primary dilated cardiomyopathy |
| RS2468889333 |
TTN
|
Health Risk |
Likely pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS2468889895 |
TTN
|
Health Risk |
Likely pathogenic |
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G |
| RS2468890429 |
TTN
|
Health Risk |
Likely pathogenic |
— |
| RS2468890460 |
REEP1
|
Health Risk |
Pathogenic |
— |
| RS2468890649 |
REEP1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468890730 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |
| RS2468890840 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS2468890850 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Spinal muscular atrophy |
| RS2468891033 |
REEP1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31 |