| RS2127869216 |
ZNF292
|
Health Risk |
Likely pathogenic |
— |
| RS2127870346 |
ZNF292
|
Health Risk |
Pathogenic |
— |
| RS2127870787 |
ZNF292
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 64 |
| RS2127871067 |
ZNF292
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 64 |
| RS2127871142 |
ZNF292
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder, autosomal dominant 64 |
| RS2127871916 |
ZNF292
|
Health Risk |
Pathogenic |
— |
| RS2127872112 |
ZNF292
|
Health Risk |
Pathogenic |
Intellectual developmental disorder, autosomal dominant 64 |
| RS2127872172 |
ZNF292
|
Health Risk |
Pathogenic |
— |
| RS2127879625 |
TBX18
|
Health Risk |
Pathogenic |
Congenital anomalies of kidney and urinary tract 2, Congenital anomalies of kidney and urinary tract 2 |
| RS2127890783 |
RRAGD
|
Health Risk |
Pathogenic |
HYPOMAGNESEMIA 7, RENAL |
| RS2127891310 |
RSPH9
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2127911266 |
RSPH9
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2127946739 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2127947553 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2127949580 |
FKBP14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, kyphoscoliotic type |
| RS2127950876 |
FKBP14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, kyphoscoliotic type |
| RS2127965290 |
BCKDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease |
| RS2127973751 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2127973901 |
BMPER
|
Health Risk |
Pathogenic |
— |
| RS2127974439 |
MAP3K7
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS2127974446 |
MAP3K7
|
Health Risk |
Likely pathogenic |
Frontometaphyseal dysplasia 2, Cardiospondylocarpofacial syndrome |
| RS2127974491 |
MAP3K7
|
Health Risk |
Conflicting classifications of pathogenicity |
Delayed skeletal maturation, Delayed skeletal maturation |
| RS2127975265 |
MAP3K7
|
Health Risk |
Likely pathogenic |
— |
| RS2127975274 |
MAP3K7
|
Health Risk |
Pathogenic |
Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome |
| RS2127982551 |
DNAH11
|
Health Risk |
Pathogenic |
— |
| RS2127982555 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7 |
| RS2127985750 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7 |
| RS2127993899 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2127994036 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2127996432 |
NT5C3A
|
Health Risk |
Likely pathogenic |
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency, Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency |
| RS2127997645 |
RAB23
|
Health Risk |
Likely pathogenic |
RAB23-related Carpenter syndrome, RAB23-related Carpenter syndrome |
| RS2127997677 |
RAB23
|
Health Risk |
Pathogenic |
Carpenter syndrome, Carpenter syndrome |
| RS2127997697 |
RAB23
|
Health Risk |
Likely pathogenic |
Carpenter syndrome, Carpenter syndrome |
| RS2127998022 |
RAB23
|
Health Risk |
Pathogenic |
Carpenter syndrome, Carpenter syndrome |
| RS2127998544 |
RAB23
|
Health Risk |
Likely pathogenic |
Carpenter syndrome, Carpenter syndrome |
| RS2127998616 |
RAB23
|
Health Risk |
Pathogenic |
RAB23-related Carpenter syndrome, RAB23-related Carpenter syndrome |
| RS2127998973 |
RARS2
|
Health Risk |
Likely pathogenic |
— |
| RS2127999204 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2128000506 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2128004184 |
RAB23
|
Health Risk |
Pathogenic |
Carpenter syndrome, Carpenter syndrome |
| RS2128009190 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2128012406 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS2128016880 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2128017262 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2128020522 |
BCKDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1B |
| RS2128024652 |
SNX10
|
Health Risk |
Pathogenic |
— |
| RS2128025477 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2128035211 |
HOXA2
|
Health Risk |
Pathogenic |
Bilateral microtia-deafness-cleft palate syndrome, Bilateral microtia-deafness-cleft palate syndrome |
| RS2128035798 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2128037867 |
AHI1
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome 3, Joubert syndrome |
| RS2128046176 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2128046981 |
ARID1B
|
Health Risk |
Pathogenic |
— |
| RS2128047712 |
GSDME
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5 |
| RS2128049034 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2128051824 |
DNAH11
|
Health Risk |
Pathogenic |
— |
| RS2128052407 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2128053357 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2128053495 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2128053554 |
DNAH11
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS2128056526 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2128057942 |
RARS2
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6 |
| RS2128058828 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome, Joubert syndrome 3 |
| RS2128059170 |
AHI1
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome, Inborn genetic diseases |
| RS2128063348 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2128063781 |
RARS2
|
Health Risk |
Pathogenic |
— |
| RS2128071123 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS2128081334 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2128081478 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS2128081591 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome 3, Joubert syndrome 3 |
| RS2128092639 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2128098409 |
AHI1
|
Health Risk |
Pathogenic/Likely pathogenic |
Joubert syndrome 3, Joubert syndrome |
| RS2128099721 |
RAPGEF5
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A |
| RS2128100863 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2128100946 |
AHI1
|
Health Risk |
Likely pathogenic |
Joubert syndrome, Joubert syndrome |
| RS2128108391 |
BBS9
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2128109836 |
HNRNPA2B1
|
Health Risk |
Likely pathogenic |
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 |
| RS2128117147 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128130342 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128130561 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128134025 |
GARS1
|
Health Risk |
Likely pathogenic |
Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2D |
| RS2128134030 |
GARS1
|
Health Risk |
Pathogenic/Likely pathogenic |
Neuronopathy, distal hereditary motor |
| RS2128135098 |
GARS1
|
Health Risk |
Likely pathogenic |
— |
| RS2128138378 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128138552 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128141336 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |
| RS2128141956 |
PKHD1
|
Health Risk |
Pathogenic |
Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease |
| RS2128142132 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128142414 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128142490 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128142610 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128143028 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128144126 |
PKHD1
|
Health Risk |
Likely pathogenic |
Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease |
| RS2128144488 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128144542 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128144732 |
PKHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128145261 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128145291 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128146216 |
PKHD1
|
Health Risk |
Pathogenic |
Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease |
| RS2128146668 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS2128146713 |
PKHD1
|
Health Risk |
Likely pathogenic |
Polycystic kidney disease 4, Polycystic kidney disease 4 |