| RS397514411 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514412 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514415 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514416 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514418 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514420 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514421 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514422 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514423 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, BTD-related disorder |
| RS397514425 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514427 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514428 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514429 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514431 |
BTD
|
Health Risk |
Pathogenic/Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514433 |
BTD
|
Health Risk |
Conflicting classifications of pathogenicity |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514434 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514436 |
BTD
|
Health Risk |
Pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514438 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514440 |
BTD
|
Health Risk |
Likely pathogenic |
Biotinidase deficiency, Biotinidase deficiency |
| RS397514441 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS397514442 |
HSD3B7
|
Health Risk |
Pathogenic |
Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS397514443 |
HSD3B7
|
Health Risk |
Pathogenic |
Congenital bile acid synthesis defect 1, Congenital bile acid synthesis defect 1 |
| RS397514444 |
MYBPC3
|
Health Risk |
risk factor |
Cardiomyopathy, familial hypertrophic |
| RS397514445 |
KLF1
|
Health Risk |
Pathogenic/Likely pathogenic |
BLOOD GROUP--LUTHERAN INHIBITOR, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6 |
| RS397514446 |
SCN5A
|
Health Risk |
Pathogenic |
Brugada syndrome 1, Cardiovascular phenotype |
| RS397514447 |
SCN5A
|
Health Risk |
Pathogenic |
Progressive familial heart block, type 1A |
| RS397514448 |
SCN5A
|
Health Risk |
Pathogenic |
HEART BLOCK, NONPROGRESSIVE |
| RS397514449 |
SCN5A
|
Health Risk |
Pathogenic |
Long QT syndrome 3, Brugada syndrome 1 |
| RS397514450 |
SCN5A
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1E, Cardiac arrhythmia |
| RS397514451 |
SGCA
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D |
| RS397514452 |
ADK
|
Health Risk |
Pathogenic |
Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS397514453 |
ADK
|
Health Risk |
Pathogenic |
Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS397514454 |
ADK
|
Health Risk |
Pathogenic |
Adenosine kinase deficiency, Adenosine kinase deficiency |
| RS397514456 |
GNAS
|
Health Risk |
Pathogenic/Likely pathogenic |
Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 1C |
| RS397514457 |
GNAS
|
Health Risk |
Pathogenic |
Pseudohypoparathyroidism type 1C, Pseudohypoparathyroidism type 1C |
| RS397514458 |
SCN1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Severe myoclonic epilepsy in infancy, Early-infantile DEE |
| RS397514459 |
SCN1A
|
Health Risk |
Pathogenic |
Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy |
| RS397514460 |
ARHGEF9
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 8 |
| RS397514461 |
SHOX
|
Health Risk |
Pathogenic |
Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis |
| RS397514462 |
SHOX
|
Health Risk |
Pathogenic |
Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis |
| RS397514463 |
OTX2
|
Health Risk |
Pathogenic |
Syndromic microphthalmia type 5, Anophthalmia-microphthalmia syndrome |
| RS397514464 |
PDE4D
|
Health Risk |
Pathogenic |
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514465 |
PDE4D
|
Health Risk |
Pathogenic |
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514466 |
PDE4D
|
Health Risk |
Pathogenic |
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514467 |
PDE4D
|
Health Risk |
Pathogenic |
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514468 |
PDE4D
|
Health Risk |
Pathogenic |
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514469 |
PDE4D
|
Health Risk |
Likely pathogenic |
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS397514470 |
PLCD1
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3 |
| RS397514471 |
PLCD1
|
Health Risk |
Pathogenic |
Nonsyndromic congenital nail disorder 3, Nonsyndromic congenital nail disorder 3 |
| RS397514472 |
PEX16
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 8B, Peroxisome biogenesis disorder 8B |
| RS397514473 |
TRPV4
|
Health Risk |
Pathogenic |
Metatropic dysplasia, Skeletal dysplasia |
| RS397514474 |
TRPV4
|
Health Risk |
Pathogenic |
Metatropic dysplasia, Neuromuscular disease |
| RS397514475 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS397514476 |
FECH
|
Health Risk |
Pathogenic |
Protoporphyria, erythropoietic |
| RS397514477 |
C19orf12
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodegeneration with brain iron accumulation 4, Abnormality of iron homeostasis |
| RS397514478 |
RNF170
|
Health Risk |
Pathogenic |
Autosomal dominant sensory ataxia 1, Spastic paraplegia 85 |
| RS397514479 |
COQ6
|
Health Risk |
Pathogenic |
Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness |
| RS397514480 |
PLCB4
|
Health Risk |
Pathogenic |
Auriculocondylar syndrome 2, Auriculocondylar syndrome 1 |
| RS397514481 |
PLCB4
|
Health Risk |
Pathogenic |
Auriculocondylar syndrome 2, Auriculocondylar syndrome 1 |
| RS397514482 |
PLCB4
|
Health Risk |
Pathogenic |
Auriculocondylar syndrome 2, Auriculocondylar syndrome 1 |
| RS397514483 |
PLCB4
|
Health Risk |
Pathogenic |
Auriculocondylar syndrome 2, Auriculocondylar syndrome 1 |
| RS397514484 |
TBX3
|
Health Risk |
Pathogenic |
Ulnar-mammary syndrome, Ulnar-mammary syndrome |
| RS397514485 |
GRIP1
|
Health Risk |
Pathogenic |
Fraser syndrome 3, Fraser syndrome 3 |
| RS397514486 |
GRIP1
|
Health Risk |
Pathogenic |
Fraser syndrome 3, Fraser syndrome 3 |
| RS397514487 |
POC1A
|
Health Risk |
Pathogenic |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Ateleiotic dwarfism |
| RS397514488 |
POC1A
|
Health Risk |
Pathogenic |
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome |
| RS397514489 |
HINT1
|
Health Risk |
Pathogenic |
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS397514490 |
HINT1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive axonal neuropathy with neuromyotonia, Peripheral neuropathy |
| RS397514491 |
HINT1
|
Health Risk |
Pathogenic |
Autosomal recessive axonal neuropathy with neuromyotonia, Autosomal recessive axonal neuropathy with neuromyotonia |
| RS397514492 |
HINT1
|
Health Risk |
Pathogenic |
Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases |
| RS397514493 |
HINT1
|
Health Risk |
Likely pathogenic |
Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases |
| RS397514494 |
TRPV4
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease axonal type 2C, Neuromuscular disease |
| RS397514495 |
TP53
|
Health Risk |
Pathogenic/Likely pathogenic |
Glioma susceptibility 1, Li-Fraumeni syndrome |
| RS397514496 |
BMPR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial pulmonary capillary hemangiomatosis, Pulmonary venoocclusive disease 1 |
| RS397514497 |
BMPR2
|
Health Risk |
Pathogenic |
Pulmonary venoocclusive disease 1, Pulmonary venoocclusive disease 1 |
| RS397514498 |
AP2S1
|
Health Risk |
Pathogenic |
Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder |
| RS397514499 |
AP2S1
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial hypocalciuric hypercalcemia 3, AP2S1-related disorder |
| RS397514500 |
USH1C
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A |
| RS397514501 |
POMT1
|
Health Risk |
Pathogenic |
Autosomal recessive limb-girdle muscular dystrophy type 2K, Autosomal recessive limb-girdle muscular dystrophy type 2K |
| RS397514502 |
A4GALT
|
Health Risk |
Pathogenic |
NOR polyagglutination syndrome, NOR polyagglutination syndrome |
| RS397514503 |
DPM2
|
Health Risk |
Pathogenic |
Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy |
| RS397514506 |
BAG3
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1HH, Familial isolated arrhythmogenic right ventricular dysplasia |
| RS397514507 |
BAG3
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH |
| RS397514508 |
INPPL1
|
Health Risk |
Likely pathogenic |
Opsismodysplasia, Opsismodysplasia |
| RS397514509 |
INPPL1
|
Health Risk |
Likely pathogenic |
Opsismodysplasia, Opsismodysplasia |
| RS397514510 |
INPPL1
|
Health Risk |
Pathogenic |
Opsismodysplasia, Opsismodysplasia |
| RS397514511 |
INPPL1
|
Health Risk |
Pathogenic |
Opsismodysplasia, Opsismodysplasia |
| RS397514512 |
INPPL1
|
Health Risk |
Pathogenic |
Opsismodysplasia, Opsismodysplasia |
| RS397514513 |
CYP2U1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 56, Neurodegeneration |
| RS397514514 |
CYP2U1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS397514515 |
CYP2U1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56 |
| RS397514517 |
SMN1
|
Health Risk |
Pathogenic |
Kugelberg-Welander disease, Kugelberg-Welander disease |
| RS397514518 |
SMN1
|
Health Risk |
Pathogenic |
Kugelberg-Welander disease, Kugelberg-Welander disease |
| RS397514519 |
GDF5
|
Health Risk |
Pathogenic |
Brachydactyly type A1C, Brachydactyly type A1C |
| RS397514520 |
ZFPM2
|
Health Risk |
Pathogenic |
Double outlet right ventricle, Double outlet right ventricle |
| RS397514521 |
ZFPM2
|
Health Risk |
Pathogenic |
Double outlet right ventricle, Double outlet right ventricle |
| RS397514522 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS397514523 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS397514524 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS397514525 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Lamellar ichthyosis |