| RS587777160 |
TBC1D20
|
Health Risk |
Pathogenic |
Warburg micro syndrome 4, Warburg micro syndrome 4 |
| RS587777161 |
CLCN4
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 49 |
| RS587777162 |
EEF1A2
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 33 |
| RS587777164 |
KCNH5
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy 112, Inborn genetic diseases |
| RS587777165 |
CACNA2D2
|
Health Risk |
Pathogenic |
Cerebellar atrophy with seizures and variable developmental delay, Cerebellar atrophy with seizures and variable developmental delay |
| RS587777167 |
RAB3GAP2
|
Health Risk |
Pathogenic/Likely pathogenic |
Martsolf syndrome, Warburg micro syndrome 2 |
| RS587777168 |
RAB3GAP2
|
Health Risk |
Pathogenic |
Warburg micro syndrome 2, Warburg micro syndrome 2 |
| RS587777169 |
RAB3GAP2
|
Health Risk |
Pathogenic |
Warburg micro syndrome 2, See cases |
| RS587777170 |
RAB3GAP2
|
Health Risk |
Pathogenic |
Warburg micro syndrome 2, Warburg micro syndrome 2 |
| RS587777171 |
LBR
|
Health Risk |
Pathogenic/Likely pathogenic |
Greenberg dysplasia, Pelger-Huët anomaly |
| RS587777172 |
LBR
|
Health Risk |
Pathogenic |
Greenberg dysplasia, RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY |
| RS587777173 |
NT5C2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS587777174 |
NT5C2
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45 |
| RS587777175 |
TFG
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 57, Hereditary motor and sensory neuropathy |
| RS587777176 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome |
| RS587777177 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome |
| RS587777178 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome |
| RS587777179 |
LZTR1
|
Health Risk |
Pathogenic/Likely pathogenic |
LZTR1-related schwannomatosis, Cardiovascular phenotype |
| RS587777180 |
LZTR1
|
Health Risk |
Conflicting classifications of pathogenicity |
LZTR1-related schwannomatosis, Schwannomatosis |
| RS587777181 |
PNPLA6
|
Health Risk |
Pathogenic |
Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39 |
| RS587777182 |
PNPLA6
|
Health Risk |
Pathogenic/Likely pathogenic |
Ataxia-hypogonadism-choroidal dystrophy syndrome, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome |
| RS587777183 |
PNPLA6
|
Health Risk |
Pathogenic |
Ataxia-hypogonadism-choroidal dystrophy syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome |
| RS587777185 |
PNPLA6
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39 |
| RS587777186 |
PIGN
|
Health Risk |
Pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS587777187 |
PIGN
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1 |
| RS587777188 |
PDE4D
|
Health Risk |
Pathogenic |
Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance |
| RS587777189 |
PCYT1A
|
Health Risk |
Pathogenic |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Inborn genetic diseases |
| RS587777190 |
PCYT1A
|
Health Risk |
Pathogenic/Likely pathogenic |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777191 |
PCYT1A
|
Health Risk |
Pathogenic |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777192 |
PCYT1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777193 |
PCYT1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777194 |
PCYT1A
|
Health Risk |
Pathogenic |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777195 |
PCYT1A
|
Health Risk |
Pathogenic |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777196 |
PCYT1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome |
| RS587777197 |
KIF1C
|
Health Risk |
Pathogenic |
Spastic ataxia 2, KIF1C-related disorder |
| RS587777198 |
KIF1C
|
Health Risk |
Likely pathogenic |
Spastic ataxia 2, Spastic ataxia 2 |
| RS587777199 |
ODAD2
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia 23, Primary ciliary dyskinesia |
| RS587777200 |
ENTPD1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64 |
| RS587777202 |
PGAP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 42 |
| RS587777204 |
EIF4A3
|
Health Risk |
Pathogenic |
Richieri Costa-Pereira syndrome, Richieri Costa-Pereira syndrome |
| RS587777205 |
DPY19L2
|
Health Risk |
Pathogenic |
Spermatogenic failure 9, Spermatogenic failure 9 |
| RS587777206 |
DPY19L2
|
Health Risk |
Pathogenic |
Spermatogenic failure 9, Spermatogenic failure 9 |
| RS587777207 |
EIF2AK4
|
Health Risk |
Pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777208 |
EIF2AK4
|
Health Risk |
Pathogenic |
Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis |
| RS587777209 |
SAG
|
Health Risk |
Pathogenic |
Oguchi disease, Oguchi disease |
| RS587777211 |
GFI1B
|
Health Risk |
Pathogenic |
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS587777213 |
YARS2
|
Health Risk |
Pathogenic |
Myopathy, lactic acidosis |
| RS587777214 |
YARS2
|
Health Risk |
Pathogenic |
Myopathy, lactic acidosis |
| RS587777215 |
YARS2
|
Health Risk |
Pathogenic |
Myopathy, lactic acidosis |
| RS587777216 |
STT3A
|
Health Risk |
Likely pathogenic |
STT3A-congenital disorder of glycosylation, STT3A-congenital disorder of glycosylation |
| RS587777217 |
STT3B
|
Health Risk |
Pathogenic |
STT3B-congenital disorder of glycosylation, STT3B-congenital disorder of glycosylation |
| RS587777218 |
LYRM4
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation deficiency 19, Combined oxidative phosphorylation deficiency 19 |
| RS587777219 |
KCNQ2
|
Health Risk |
Pathogenic/Likely pathogenic |
Developmental and epileptic encephalopathy, 7 |
| RS587777220 |
SCO1
|
Health Risk |
Pathogenic |
Mitochondrial complex IV deficiency, nuclear type 4 |
| RS587777222 |
CYP7B1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 5A, Spastic paraplegia |
| RS587777223 |
FKRP
|
Health Risk |
Pathogenic |
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 |
| RS587777224 |
DNAJC19
|
Health Risk |
Pathogenic |
3-methylglutaconic aciduria type 5, 3-methylglutaconic aciduria type 5 |
| RS587777225 |
LINS1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 27 |
| RS587777226 |
LINS1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal recessive 27 |
| RS587777229 |
MAG
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75 |
| RS587777230 |
CEP19
|
Health Risk |
Conflicting classifications of pathogenicity |
Obesity due to CEP19 deficiency, Obesity due to CEP19 deficiency |
| RS587777231 |
EDN1
|
Health Risk |
Pathogenic |
Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 |
| RS587777232 |
EDN1
|
Health Risk |
Pathogenic |
Auriculocondylar syndrome 3, Auriculocondylar syndrome 3 |
| RS587777233 |
EDN1
|
Health Risk |
Pathogenic |
Question mark ears, isolated |
| RS587777234 |
EDN1
|
Health Risk |
Pathogenic |
Question mark ears, isolated |
| RS587777235 |
RUBCN
|
Health Risk |
Pathogenic |
Autosomal recessive spinocerebellar ataxia 15, Autosomal recessive spinocerebellar ataxia 15 |
| RS587777236 |
FAM111B
|
Health Risk |
Likely pathogenic |
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
| RS587777237 |
FAM111B
|
Health Risk |
Pathogenic |
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
| RS587777238 |
FAM111B
|
Health Risk |
Pathogenic |
Hereditary sclerosing poikiloderma with tendon and pulmonary involvement, Hereditary sclerosing poikiloderma with tendon and pulmonary involvement |
| RS587777239 |
HRAS
|
Health Risk |
Likely pathogenic |
Costello syndrome, Costello syndrome |
| RS587777240 |
ADA2
|
Health Risk |
Pathogenic |
Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS587777241 |
ADA2
|
Health Risk |
Pathogenic/Likely pathogenic |
Deficiency of adenosine deaminase 2, Autoinflammatory syndrome |
| RS587777242 |
ADA2
|
Health Risk |
Pathogenic |
Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2 |
| RS587777243 |
SLC25A22
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 3 |
| RS587777244 |
MTFMT
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15 |
| RS587777245 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS587777246 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS587777247 |
CSF1R
|
Health Risk |
Pathogenic |
Hereditary diffuse leukoencephalopathy with spheroids, Hereditary diffuse leukoencephalopathy with spheroids |
| RS587777248 |
WWOX
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 28 |
| RS587777249 |
YAP1
|
Health Risk |
Pathogenic |
Congenital ocular coloboma, Congenital ocular coloboma |
| RS587777250 |
YAP1
|
Health Risk |
Pathogenic |
Uveal coloboma-cleft lip and palate-intellectual disability, Uveal coloboma-cleft lip and palate-intellectual disability |
| RS587777251 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS587777252 |
PGAP3
|
Health Risk |
Pathogenic |
Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4 |
| RS587777253 |
SLC38A8
|
Health Risk |
Pathogenic |
Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia |
| RS587777254 |
SLC38A8
|
Health Risk |
Pathogenic |
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS, FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS |
| RS587777255 |
SLC38A8
|
Health Risk |
Pathogenic |
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS, Inborn genetic diseases |
| RS587777256 |
SLC38A8
|
Health Risk |
Pathogenic |
FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING, FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING |
| RS587777257 |
SLC38A8
|
Health Risk |
Pathogenic |
Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis, Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis |
| RS587777258 |
DCN
|
Health Risk |
Pathogenic |
Congenital stromal corneal dystrophy, Congenital stromal corneal dystrophy |
| RS587777259 |
FLNB
|
Health Risk |
Pathogenic |
Atelosteogenesis type I, Atelosteogenesis type I |
| RS587777261 |
IQSEC2
|
Health Risk |
Pathogenic |
Intellectual disability, X-linked 1 |
| RS587777262 |
ST14
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 11, Ichthyosis |
| RS587777263 |
ST14
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 11, Autosomal recessive congenital ichthyosis 11 |
| RS587777264 |
KCNT1
|
Health Risk |
Likely pathogenic |
Developmental and epileptic encephalopathy, 14 |
| RS587777265 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS587777266 |
NGLY1
|
Health Risk |
Pathogenic |
Congenital disorder of deglycosylation, Congenital disorder of deglycosylation |
| RS587777267 |
STAG3
|
Health Risk |
Pathogenic |
Premature ovarian failure 8, Premature ovarian failure 8 |
| RS587777268 |
HFM1
|
Health Risk |
Pathogenic |
Premature ovarian failure 9, Premature ovarian failure 9 |
| RS587777269 |
HFM1
|
Health Risk |
Pathogenic |
Premature ovarian failure 9, Premature ovarian failure 9 |
| RS587777270 |
HFM1
|
Health Risk |
Pathogenic |
Premature ovarian failure 9, Premature ovarian failure 9 |