| RS886050420 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 1, Dilated cardiomyopathy 1S |
| RS886050422 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1 |
| RS886050423 |
MYH7
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1S, MYH7-related skeletal myopathy |
| RS886050430 |
TINF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Revesz syndrome, Dyskeratosis congenita |
| RS886050432 |
TINF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal dominant 3 |
| RS886050441 |
TGM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS886050481 |
NKX2-1
|
Health Risk |
Conflicting classifications of pathogenicity |
Benign hereditary chorea, Brain-lung-thyroid syndrome |
| RS886050484 |
NKX2-1
|
Health Risk |
Conflicting classifications of pathogenicity |
Benign hereditary chorea, Brain-lung-thyroid syndrome |
| RS886050528 |
DNAAF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 10 |
| RS886050580 |
SYNE2
|
Health Risk |
Conflicting classifications of pathogenicity |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
| RS886050596 |
SYNE2
|
Health Risk |
Conflicting classifications of pathogenicity |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
| RS886050600 |
SYNE2
|
Health Risk |
Conflicting classifications of pathogenicity |
Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
| RS886050652 |
ZFYVE26
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 15, Spastic paraplegia |
| RS886050756 |
LTBP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Weill-Marchesani syndrome, Glaucoma 3 |
| RS886050826 |
POMT2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2N, Autosomal recessive limb-girdle muscular dystrophy type 2N |
| RS886050866 |
GALC
|
Health Risk |
Conflicting classifications of pathogenicity |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS886050867 |
GALC
|
Health Risk |
Conflicting classifications of pathogenicity |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS886050878 |
TTC8
|
Health Risk |
Conflicting classifications of pathogenicity |
Retinitis pigmentosa, Bardet-Biedl syndrome 8 |
| RS886050940 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS886050943 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS886050944 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS886050980 |
ADAMTS17
|
Health Risk |
Conflicting classifications of pathogenicity |
Weill-Marchesani 4 syndrome, recessive |
| RS886050982 |
ADAMTS17
|
Health Risk |
Conflicting classifications of pathogenicity |
Weill-Marchesani 4 syndrome, recessive |
| RS886050983 |
ADAMTS17
|
Health Risk |
Conflicting classifications of pathogenicity |
Weill-Marchesani 4 syndrome, recessive |
| RS886051025 |
OCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS886051026 |
OCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism |
| RS886051056 |
SLC12A6
|
Health Risk |
Conflicting classifications of pathogenicity |
Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy |
| RS886051085 |
ACTC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R |
| RS886051104 |
SPRED1
|
Health Risk |
Conflicting classifications of pathogenicity |
Legius syndrome, Cardiovascular phenotype |
| RS886051176 |
SPG11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 11, Inborn genetic diseases |
| RS886051177 |
SPG11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS886051179 |
SPG11
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 11, SPG11-related disorder |
| RS886051180 |
SPG11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11 |
| RS886051181 |
SPG11
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 11, Inborn genetic diseases |
| RS886051190 |
DUOX2
|
Health Risk |
Conflicting classifications of pathogenicity |
Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS886051196 |
DUOX2
|
Health Risk |
Conflicting classifications of pathogenicity |
Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6 |
| RS886051244 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Marfan syndrome, Ectopia lentis 1 |
| RS886051245 |
FBN1
|
Health Risk |
Likely pathogenic |
Acromicric dysplasia, Familial thoracic aortic aneurysm and aortic dissection |
| RS886051249 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Stiff skin syndrome, Marfan syndrome |
| RS886051252 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial thoracic aortic aneurysm and aortic dissection, Stiff skin syndrome |
| RS886051262 |
CEP152
|
Health Risk |
Conflicting classifications of pathogenicity |
Microcephaly 9, primary |
| RS886051334 |
KBTBD13
|
Health Risk |
Conflicting classifications of pathogenicity |
Nemaline myopathy 6, Nemaline myopathy 6 |
| RS886051348 |
SLC24A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital stationary night blindness 1D, Inborn genetic diseases |
| RS886051351 |
SLC24A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Congenital stationary night blindness 1D, Congenital stationary night blindness 1D |
| RS886051380 |
SMAD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Aneurysm-osteoarthritis syndrome, Familial thoracic aortic aneurysm and aortic dissection |
| RS886051474 |
STRA6
|
Health Risk |
Conflicting classifications of pathogenicity |
Matthew-Wood syndrome, Matthew-Wood syndrome |
| RS886051496 |
FAH
|
Health Risk |
Conflicting classifications of pathogenicity |
Tyrosinemia type I, Tyrosinemia type I |
| RS886051497 |
FAH
|
Health Risk |
Conflicting classifications of pathogenicity |
Tyrosinemia type I, Tyrosinemia type I |
| RS886051512 |
FANCI
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group I, Fanconi anemia |
| RS886051522 |
POLG
|
Health Risk |
Conflicting classifications of pathogenicity |
POLG-related disorder, Progressive sclerosing poliodystrophy |
| RS886051523 |
POLG
|
Health Risk |
Conflicting classifications of pathogenicity |
POLG-related disorder, Progressive sclerosing poliodystrophy |
| RS886051524 |
POLG
|
Health Risk |
Conflicting classifications of pathogenicity |
POLG-related disorder, Progressive sclerosing poliodystrophy |
| RS886051525 |
POLG
|
Health Risk |
Conflicting classifications of pathogenicity |
POLG-related disorder, Progressive sclerosing poliodystrophy |
| RS886051529 |
KIF7
|
Health Risk |
Conflicting classifications of pathogenicity |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051533 |
KIF7
|
Health Risk |
Conflicting classifications of pathogenicity |
Acrocallosal syndrome, KIF7-related disorder |
| RS886051534 |
KIF7
|
Health Risk |
Conflicting classifications of pathogenicity |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051535 |
KIF7
|
Health Risk |
Conflicting classifications of pathogenicity |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051536 |
KIF7
|
Health Risk |
Conflicting classifications of pathogenicity |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051538 |
KIF7
|
Health Risk |
Conflicting classifications of pathogenicity |
Acrocallosal syndrome, Acrocallosal syndrome |
| RS886051551 |
BLM
|
Health Risk |
Pathogenic |
Bloom syndrome, Bloom syndrome |
| RS886051553 |
BLM
|
Health Risk |
Conflicting classifications of pathogenicity |
Bloom syndrome, Bloom syndrome |
| RS886051653 |
LITAF
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease type 1C, Inborn genetic diseases |
| RS886051658 |
GNPTG
|
Health Risk |
Conflicting classifications of pathogenicity |
GNPTG-mucolipidosis, GNPTG-mucolipidosis |
| RS886051659 |
ERCC4
|
Health Risk |
Conflicting classifications of pathogenicity |
Xeroderma pigmentosum, group F |
| RS886051698 |
CLCN7
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteopetrosis, Osteopetrosis |
| RS886051701 |
CLCN7
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteopetrosis, Osteopetrosis |
| RS886051702 |
CLCN7
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteopetrosis, Osteopetrosis |
| RS886051703 |
CLCN7
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteopetrosis, Osteopetrosis |
| RS886051739 |
MYH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 4 |
| RS886051760 |
MYH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Aortic aneurysm, familial thoracic 4 |
| RS886051786 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS886051787 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS886051790 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS886051791 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS886051793 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS886051795 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS886051796 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Tuberous sclerosis 2 |
| RS886051798 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome |
| RS886051813 |
ABCA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS886051823 |
ABCA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS886051833 |
ABCA3
|
Health Risk |
Conflicting classifications of pathogenicity |
Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency |
| RS886051878 |
ATP2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Brody myopathy, Brody myopathy |
| RS886051910 |
PHKG2
|
Health Risk |
Conflicting classifications of pathogenicity |
Glycogen storage disease IXc, Glycogen storage disease IXc |
| RS886051981 |
SLX4
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group P, Fanconi anemia |
| RS886051982 |
SLX4
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group P, Fanconi anemia |
| RS886052096 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome 7, Meckel syndrome |
| RS886052101 |
FTO
|
Health Risk |
Conflicting classifications of pathogenicity |
Lethal polymalformative syndrome, Boissel type |
| RS886052125 |
MMP2
|
Health Risk |
Conflicting classifications of pathogenicity |
Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum |
| RS886052144 |
BBS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome |
| RS886052147 |
BBS2
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2 |
| RS886052149 |
BBS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Bardet-Biedl syndrome 2, Bardet-Biedl syndrome |
| RS886052229 |
CDH3
|
Health Risk |
Conflicting classifications of pathogenicity |
EEM syndrome, EEM syndrome |
| RS886052255 |
AARS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases |
| RS886052274 |
TAT
|
Health Risk |
Conflicting classifications of pathogenicity |
Tyrosinemia type II, Tyrosinemia type II |
| RS886052321 |
CHST6
|
Health Risk |
Pathogenic |
Macular corneal dystrophy, Macular corneal dystrophy |
| RS886052333 |
GAN
|
Health Risk |
Conflicting classifications of pathogenicity |
Giant axonal neuropathy 1, Inborn genetic diseases |
| RS886052366 |
DNAAF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia 13, Primary ciliary dyskinesia |
| RS886052390 |
ZNF469
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Ehlers-Danlos syndrome |
| RS886052392 |
ZNF469
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS886052399 |
ZNF469
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |