| RS72659361 |
CRTAP
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7 |
| RS72659362 |
CRTAP
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7 |
| RS72659379 |
DCTN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Amyotrophic lateral sclerosis type 1, Perry syndrome |
| RS72659383 |
DCTN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronopathy, distal hereditary motor |
| RS72660870 |
LIG4
|
Health Risk |
Conflicting classifications of pathogenicity |
DNA ligase IV deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency |
| RS72661119 |
TP53
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS72661161 |
SMAD3
|
Health Risk |
Conflicting classifications of pathogenicity |
Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome |
| RS72664203 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664204 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664205 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664207 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664209 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664210 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664211 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664212 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664214 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664216 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664217 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664218 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664219 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664220 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664222 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664223 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, ABCC6-related disorder |
| RS72664226 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664227 |
ABCC6
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664229 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664231 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664232 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664233 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification |
| RS72664234 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664236 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664237 |
ABCC6
|
Health Risk |
Pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Abnormality of the eye |
| RS72664238 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664239 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664280 |
ABCC6
|
Health Risk |
Likely pathogenic |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72664281 |
ABCC6
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS72667007 |
COL1A1
|
Health Risk |
Pathogenic |
Wiedemann-Rautenstrauch-like progeroid syndrome, Osteogenesis imperfecta type I |
| RS72667012 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72667014 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72667016 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, COL1A1-related disorder |
| RS72667017 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta with normal sclerae, dominant form |
| RS72667019 |
COL1A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, arthrochalasia type |
| RS72667020 |
COL1A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, arthrochalasia type |
| RS72667022 |
COL1A1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, arthrochalasia type |
| RS72667023 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta type I |
| RS72667024 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta, Osteogenesis imperfecta |
| RS72667025 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta type I, Osteogenesis imperfecta |
| RS72667027 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72667028 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72667029 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72667030 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72667031 |
COL1A1
|
Health Risk |
Likely pathogenic |
Osteogenesis imperfecta type I, Infantile cortical hyperostosis |
| RS72667032 |
COL1A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Osteogenesis imperfecta, Connective tissue disorder |
| RS72667033 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72667034 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72667036 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Ehlers-Danlos syndrome |
| RS72667037 |
COL1A1
|
Health Risk |
Pathogenic/Likely pathogenic |
Osteogenesis imperfecta type 1, mild |
| RS72667038 |
COL1A1
|
Health Risk |
Pathogenic |
Osteogenesis imperfecta type I, Osteogenesis imperfecta type I |
| RS72677221 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72677223 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72677225 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiomyopathy |
| RS72677226 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72677229 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72677231 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Myopathy |
| RS72677233 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72677238 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72677240 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72677242 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72677243 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Tibial muscular dystrophy |
| RS72677245 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G |
| RS72677247 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72677249 |
TTN
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS72677250 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS72680775 |
BBS7
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7 |
| RS72705400 |
TRIP11
|
Health Risk |
Conflicting classifications of pathogenicity |
Achondrogenesis, type IA |
| RS72708067 |
GABRB3
|
Health Risk |
Pathogenic |
Epilepsy, childhood absence |
| RS72713916 |
WARS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS72720524 |
WASHC5
|
Health Risk |
Conflicting classifications of pathogenicity |
Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS72720799 |
NOP10
|
Health Risk |
Conflicting classifications of pathogenicity |
Dyskeratosis congenita, autosomal recessive 1 |
| RS72721739 |
LRBA
|
Health Risk |
Conflicting classifications of pathogenicity |
Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency |
| RS72723172 |
ZFYVE26
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15 |
| RS72724479 |
PLEKHG3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS72739819 |
FBN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Vascular dilatation, Vascular dilatation |
| RS727502766 |
MAF
|
Health Risk |
Pathogenic |
Ayme-Gripp syndrome, MAF-related disorder |
| RS727502767 |
MAF
|
Health Risk |
Pathogenic |
Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502768 |
MAF
|
Health Risk |
Likely pathogenic |
Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502769 |
MAF
|
Health Risk |
Pathogenic |
Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502770 |
MAF
|
Health Risk |
Likely pathogenic |
Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502771 |
MAF
|
Health Risk |
Likely pathogenic |
Ayme-Gripp syndrome, Ayme-Gripp syndrome |
| RS727502772 |
SCARB2
|
Health Risk |
Pathogenic |
Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS727502773 |
SCARB2
|
Health Risk |
Pathogenic |
Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS727502774 |
RMRP
|
Health Risk |
Pathogenic/Likely pathogenic |
Metaphyseal chondrodysplasia, McKusick type |
| RS727502776 |
RMRP
|
Health Risk |
Pathogenic/Likely pathogenic |
Metaphyseal chondrodysplasia, McKusick type |
| RS727502777 |
RMRP
|
Health Risk |
Likely pathogenic |
Metaphyseal chondrodysplasia, McKusick type |
| RS727502778 |
RMRP
|
Health Risk |
Pathogenic/Likely pathogenic |
Metaphyseal chondrodysplasia, McKusick type |
| RS727502780 |
ZFHX3
|
Health Risk |
Conflicting classifications of pathogenicity |
Prostate cancer, somatic |
| RS727502781 |
SCARB2
|
Health Risk |
Likely pathogenic |
Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS727502782 |
SCARB2
|
Health Risk |
Pathogenic |
Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome |
| RS727502783 |
SCARB2
|
Health Risk |
Conflicting classifications of pathogenicity |
Action myoclonus-renal failure syndrome, Progressive myoclonic epilepsy |
| RS727502784 |
SARS2
|
Health Risk |
Likely pathogenic |
Hyperuricemia, pulmonary hypertension |