| RS2139645844 |
VSX2
|
Health Risk |
Pathogenic |
Isolated microphthalmia 2, Isolated microphthalmia 2 |
| RS2139646713 |
GLRX5
|
Health Risk |
Pathogenic |
Spasticity-ataxia-gait anomalies syndrome, Spasticity-ataxia-gait anomalies syndrome |
| RS2139656549 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139665561 |
SERPINA1
|
Health Risk |
Pathogenic |
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS2139668010 |
NPC2
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C2 |
| RS2139669739 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS2139670174 |
NPC2
|
Health Risk |
Pathogenic |
Niemann-Pick disease, type C2 |
| RS2139675094 |
DDHD1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139689656 |
LTBP2
|
Health Risk |
Likely pathogenic |
— |
| RS2139691603 |
SERPINA1
|
Health Risk |
Pathogenic |
Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency |
| RS2139693289 |
LTBP2
|
Health Risk |
Pathogenic |
— |
| RS2139701186 |
SPTB
|
Health Risk |
Likely pathogenic |
— |
| RS2139702590 |
DNAJC3
|
Health Risk |
Likely pathogenic |
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome |
| RS2139715414 |
LTBP2
|
Health Risk |
Likely pathogenic |
Microspherophakia, Microspherophakia |
| RS2139715925 |
TECPR2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139716000 |
TECPR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia, Hereditary spastic paraplegia |
| RS2139716064 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139716373 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139718507 |
LTBP2
|
Health Risk |
Pathogenic |
— |
| RS2139724476 |
DDHD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia, Hereditary spastic paraplegia 28 |
| RS2139726694 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139726701 |
TECPR2
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139731066 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139731384 |
TCTN3
|
Health Risk |
Likely pathogenic |
Orofacial-digital syndrome IV, Joubert syndrome 18 |
| RS2139731468 |
TECPR2
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139731631 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139733831 |
SOS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Noonan syndrome 9, Noonan syndrome 9 |
| RS2139736635 |
TECPR2
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139738553 |
TCTN3
|
Health Risk |
Pathogenic |
Orofacial-digital syndrome IV, Orofacial-digital syndrome IV |
| RS2139741549 |
MAX
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome |
| RS2139743890 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139744863 |
TCTN3
|
Health Risk |
Pathogenic |
Joubert syndrome 18, Orofacial-digital syndrome IV |
| RS2139746476 |
ZMYM2
|
Health Risk |
Likely pathogenic |
Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract |
| RS2139746567 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139748811 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139748841 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139748846 |
ZMYM2
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract |
| RS2139749042 |
TCTN3
|
Health Risk |
Pathogenic |
Orofacial-digital syndrome IV, Joubert syndrome 18 |
| RS2139749072 |
VRK1
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139749699 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139752366 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139752497 |
BCL11B
|
Health Risk |
Likely pathogenic |
— |
| RS2139752512 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139752868 |
MAX
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma |
| RS2139752892 |
BCL11B
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139753037 |
BCL11B
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139753087 |
BCL11B
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139753299 |
BCL11B
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139754606 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139754684 |
MAX
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2139754775 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139755033 |
MAX
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2139755093 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139755114 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139755167 |
MAX
|
Health Risk |
Pathogenic |
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2139755178 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139755464 |
BCL11B
|
Health Risk |
Likely pathogenic |
Microcephaly, Microcephaly |
| RS2139755728 |
BCL11B
|
Health Risk |
Pathogenic |
— |
| RS2139755925 |
BCL11B
|
Health Risk |
Pathogenic |
Immunodeficiency 49, Immunodeficiency 49 |
| RS2139756352 |
MAX
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Clear cell carcinoma of kidney |
| RS2139756536 |
NAA30
|
Health Risk |
Likely pathogenic |
Lethal multiystemic syndrome, Lethal multiystemic syndrome |
| RS2139757401 |
BCL11B
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139757991 |
BCL11B
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139758703 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139758767 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139758786 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139759343 |
BCL11B
|
Health Risk |
Likely pathogenic |
— |
| RS2139759363 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Inborn genetic diseases |
| RS2139759372 |
BCL11B
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with speech delay, dysmorphic facies |
| RS2139759522 |
GALC
|
Health Risk |
Likely pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139760184 |
BCL11B
|
Health Risk |
Likely pathogenic |
— |
| RS2139767189 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS2139767694 |
ATP7B
|
Health Risk |
Pathogenic/Likely pathogenic |
Wilson disease, Wilson disease |
| RS2139769498 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139769937 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139769959 |
GALC
|
Health Risk |
Pathogenic |
Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency |
| RS2139771589 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139771682 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139771776 |
TECPR2
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139773629 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2139773639 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2139775159 |
ATP7B
|
Health Risk |
Pathogenic |
Wilson disease, Wilson disease |
| RS2139775781 |
DICER1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2139777345 |
ATP7B
|
Health Risk |
Likely pathogenic |
Wilson disease, Wilson disease |
| RS2139779014 |
VRK1
|
Health Risk |
Pathogenic/Likely pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139780112 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2139788041 |
LTBP2
|
Health Risk |
Pathogenic |
— |
| RS2139788894 |
CCDC88C
|
Health Risk |
Likely pathogenic |
Spastic ataxia, Spastic ataxia |
| RS2139794959 |
ZEB1
|
Health Risk |
Pathogenic |
Posterior polymorphous corneal dystrophy 3, Posterior polymorphous corneal dystrophy 3 |
| RS2139795550 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139795638 |
NALCN
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2139796429 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139801958 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139803627 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139803640 |
TECPR2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49 |
| RS2139804073 |
VRK1
|
Health Risk |
Pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139804166 |
VRK1
|
Health Risk |
Likely pathogenic |
Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A |
| RS2139806225 |
DDHD1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28 |
| RS2139811410 |
DICER1
|
Health Risk |
Pathogenic |
Rhabdomyosarcoma, embryonal |
| RS2139811427 |
DICER1
|
Health Risk |
Pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |