| RS1587543641 |
TRPM6
|
Health Risk |
Pathogenic |
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS1587545234 |
TEK
|
Health Risk |
Likely pathogenic |
Glaucoma 3, primary congenital |
| RS1587550393 |
TRPM6
|
Health Risk |
Likely pathogenic |
Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1 |
| RS1587586052 |
RIGI
|
Health Risk |
Likely pathogenic |
Singleton-Merten syndrome 2, Singleton-Merten syndrome 2 |
| RS1587612257 |
VPS13A
|
Health Risk |
Pathogenic |
Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1587618417 |
TG
|
Health Risk |
Likely pathogenic |
Hypothyroidism, Hypothyroidism |
| RS1587620892 |
TOPORS
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa, Retinal dystrophy |
| RS1587620953 |
TOPORS
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 31, TOPORS-related disorder |
| RS1587628060 |
VPS13A
|
Health Risk |
Likely pathogenic |
Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1587652899 |
ROR2
|
Health Risk |
Likely pathogenic |
— |
| RS1587653832 |
VPS13A
|
Health Risk |
Pathogenic |
Chorea-acanthocytosis, Chorea-acanthocytosis |
| RS1587655016 |
ROR2
|
Health Risk |
Likely pathogenic |
Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS1587657302 |
ROR2
|
Health Risk |
Pathogenic |
Brachydactyly type B1, Brachydactyly type B1 |
| RS1587667544 |
BICD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuronopathy, distal hereditary motor |
| RS1587668077 |
BICD2
|
Health Risk |
Likely pathogenic |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668129 |
BICD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668748 |
BICD2
|
Health Risk |
Pathogenic |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668769 |
BICD2
|
Health Risk |
Likely pathogenic |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587668798 |
BICD2
|
Health Risk |
Pathogenic |
Neuronopathy, distal hereditary motor |
| RS1587668852 |
BICD2
|
Health Risk |
Likely pathogenic |
Spinal muscular atrophy, lower extremity-predominant |
| RS1587669044 |
BICD2
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures |
| RS1587671674 |
BICD2
|
Health Risk |
Likely pathogenic |
Neuronopathy, distal hereditary motor |
| RS1587678058 |
TG
|
Health Risk |
Pathogenic |
Iodotyrosyl coupling defect, Iodotyrosyl coupling defect |
| RS1587690611 |
ROR2
|
Health Risk |
Likely pathogenic |
Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome |
| RS1587692888 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Basal cell nevus syndrome 1 |
| RS1587693508 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1587693544 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Basal cell nevus syndrome 1 |
| RS1587693623 |
PTCH1
|
Health Risk |
Pathogenic |
Gorlin syndrome, Gorlin syndrome |
| RS1587701162 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Gorlin syndrome |
| RS1587701202 |
PTCH1
|
Health Risk |
Conflicting classifications of pathogenicity |
Gorlin syndrome, Hereditary cancer-predisposing syndrome |
| RS1587705905 |
KAT6A
|
Health Risk |
Likely pathogenic |
— |
| RS1587706119 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS1587708558 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS1587708739 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS1587709269 |
KAT6A
|
Health Risk |
Likely pathogenic |
— |
| RS1587713866 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1587713892 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1587723169 |
KAT6A
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1587725422 |
IARS1
|
Health Risk |
Likely pathogenic |
— |
| RS1587727050 |
KAT6A
|
Health Risk |
Pathogenic |
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome |
| RS1587744218 |
XPA
|
Health Risk |
Pathogenic |
— |
| RS1587755557 |
XPA
|
Health Risk |
Pathogenic |
Xeroderma pigmentosum group A, Thyroid cancer |
| RS1587767856 |
KAT6A
|
Health Risk |
Pathogenic |
— |
| RS1587783980 |
MPDZ
|
Health Risk |
Likely pathogenic |
— |
| RS1587799880 |
AUH
|
Health Risk |
Likely pathogenic |
3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1 |
| RS1587823007 |
ISCA1
|
Health Risk |
Pathogenic |
Multiple mitochondrial dysfunctions syndrome 5, Multiple mitochondrial dysfunctions syndrome 5 |
| RS1587832283 |
FXN
|
Health Risk |
Likely pathogenic |
— |
| RS1587872591 |
ELP1
|
Health Risk |
Likely pathogenic |
— |
| RS1587875298 |
SECISBP2
|
Health Risk |
Pathogenic |
Thyroid hormone metabolism, abnormal 1 |
| RS1587878722 |
UBAP1
|
Health Risk |
Pathogenic |
Spastic paraplegia 80, autosomal dominant |
| RS1587878961 |
UBAP1
|
Health Risk |
Pathogenic |
Spastic paraplegia 80, autosomal dominant |
| RS1587879449 |
UBAP1
|
Health Risk |
Pathogenic |
Spastic paraplegia 80, autosomal dominant |
| RS1587880332 |
IARS1
|
Health Risk |
Likely pathogenic |
— |
| RS1587895234 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS1587896236 |
KMT2C
|
Health Risk |
Likely pathogenic |
— |
| RS1587896788 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS1587908683 |
GLDC
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy 1 |
| RS1587912461 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1587919053 |
RMRP
|
Health Risk |
Likely pathogenic |
Anauxetic dysplasia, Metaphyseal chondrodysplasia |
| RS1587919129 |
RMRP
|
Health Risk |
Likely pathogenic |
Metaphyseal chondrodysplasia, McKusick type |
| RS1587919165 |
RMRP
|
Health Risk |
Likely pathogenic |
Metaphyseal chondrodysplasia, McKusick type |
| RS1587919406 |
RMRP
|
Health Risk |
Pathogenic |
Anauxetic dysplasia, Anauxetic dysplasia |
| RS1587922096 |
GLDC
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1587923537 |
ELP1
|
Health Risk |
Likely pathogenic |
— |
| RS1587924452 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS1587924458 |
ELP1
|
Health Risk |
Pathogenic |
— |
| RS1587941402 |
KMT2C
|
Health Risk |
Likely pathogenic |
Multiple myeloma, Multiple myeloma |
| RS1587943560 |
AUH
|
Health Risk |
Likely pathogenic |
— |
| RS1587946346 |
GLDC
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1587950355 |
GLDC
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1587951033 |
GLDC
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1587953116 |
KMT2C
|
Health Risk |
Pathogenic |
KMT2C-related disorder, KMT2C-related disorder |
| RS1587956195 |
TPM2
|
Health Risk |
Pathogenic |
Arthrogryposis, distal |
| RS1587958061 |
GLDC
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1587959107 |
TPM2
|
Health Risk |
Likely pathogenic |
Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1 |
| RS1587959976 |
GLDC
|
Health Risk |
Pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1587964981 |
GLDC
|
Health Risk |
Likely pathogenic |
Glycine encephalopathy, Glycine encephalopathy |
| RS1587986079 |
MUSK
|
Health Risk |
Likely pathogenic |
Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9 |
| RS1588001500 |
GBA2
|
Health Risk |
Likely pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS1588003652 |
MYORG
|
Health Risk |
Likely pathogenic |
Basal ganglia calcification, idiopathic |
| RS1588010939 |
GBA2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46 |
| RS1588013761 |
GBA2
|
Health Risk |
Likely pathogenic |
— |
| RS1588013817 |
ERCC6L2
|
Health Risk |
Likely pathogenic |
Pancytopenia-developmental delay syndrome, Pancytopenia-developmental delay syndrome |
| RS1588022768 |
GBA2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46 |
| RS1588023668 |
GBA2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 46, Hereditary spastic paraplegia 46 |
| RS1588029220 |
FANCC
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group C |
| RS1588038825 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1588038976 |
VPS13B
|
Health Risk |
Pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1588047887 |
FANCC
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Fanconi anemia complementation group C |
| RS1588048848 |
VPS13B
|
Health Risk |
Likely pathogenic |
Cohen syndrome, Cohen syndrome |
| RS1588057922 |
NPR2
|
Health Risk |
Likely pathogenic |
Epilepsy, familial focal |
| RS1588062809 |
ZNF462
|
Health Risk |
Pathogenic |
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS1588063241 |
ZNF462
|
Health Risk |
Pathogenic |
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS1588064794 |
ZNF462
|
Health Risk |
Pathogenic |
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS1588065447 |
ZNF462
|
Health Risk |
Pathogenic |
— |
| RS1588067098 |
ZNF462
|
Health Risk |
Pathogenic |
Weiss-Kruszka syndrome, Weiss-Kruszka syndrome |
| RS1588067173 |
TMC1
|
Health Risk |
Pathogenic/Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS1588068987 |
NPR2
|
Health Risk |
Pathogenic |
Tall stature-scoliosis-macrodactyly of the great toes syndrome, Acromesomelic dysplasia 1 |
| RS1588070592 |
FANCC
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia complementation group A, Fanconi anemia |
| RS1588070620 |
FANCC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Fanconi anemia |