| RS1555303720 |
COL4A1
|
Health Risk |
Likely pathogenic |
Brain small vessel disease 1 with or without ocular anomalies, Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome |
| RS1555304055 |
TINF2
|
Health Risk |
Likely pathogenic |
Dyskeratosis congenita, autosomal dominant 3 |
| RS1555305016 |
LIG4
|
Health Risk |
Likely pathogenic |
— |
| RS1555305593 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS1555305682 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS1555305725 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555305783 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555305836 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306089 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306102 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306113 |
TGM1
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306116 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306117 |
TGM1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306172 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306238 |
TGM1
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555306304 |
TGM1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1 |
| RS1555307370 |
SOX5
|
Health Risk |
Pathogenic |
Lamb-Shaffer syndrome, Inborn genetic diseases |
| RS1555309004 |
NALCN
|
Health Risk |
Pathogenic |
— |
| RS1555310861 |
COCH
|
Health Risk |
Likely pathogenic |
Rare genetic deafness, Rare genetic deafness |
| RS1555311971 |
COCH
|
Health Risk |
Likely pathogenic |
— |
| RS1555312905 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555313027 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555313048 |
CHD8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly |
| RS1555313076 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555313219 |
CHD8
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555313519 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual disability |
| RS1555313658 |
CHD8
|
Health Risk |
Pathogenic |
CHD8-related disorder, CHD8-related disorder |
| RS1555313924 |
CHD8
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555313934 |
CHD8
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases |
| RS1555314116 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314122 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314174 |
CHD8
|
Health Risk |
Likely pathogenic |
— |
| RS1555314186 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555314211 |
CHD8
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Inborn genetic diseases |
| RS1555314317 |
CHD8
|
Health Risk |
Likely pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314378 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555314390 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555314400 |
CHD8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314489 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555314582 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555314609 |
CHD8
|
Health Risk |
Likely pathogenic |
Developmental disorder, Developmental disorder |
| RS1555314736 |
CHD8
|
Health Risk |
Pathogenic/Likely pathogenic |
Inborn genetic diseases, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314788 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Neurodevelopmental disorder |
| RS1555314895 |
CHD8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555314911 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555314944 |
CHD8
|
Health Risk |
Pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS1555315221 |
CHD8
|
Health Risk |
Likely pathogenic |
— |
| RS1555315488 |
CHD8
|
Health Risk |
Likely pathogenic |
— |
| RS1555315679 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555316323 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555316331 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555316697 |
PAX9
|
Health Risk |
Pathogenic |
Tooth agenesis, selective |
| RS1555316699 |
PAX9
|
Health Risk |
Pathogenic |
— |
| RS1555316704 |
PAX9
|
Health Risk |
Pathogenic |
Hypodontia, Hypodontia |
| RS1555316743 |
PAX9
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555318001 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555318013 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555318113 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555318226 |
CHD8
|
Health Risk |
Pathogenic |
CHD8-related disorder, CHD8-related disorder |
| RS1555318290 |
CHD8
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly |
| RS1555318328 |
COL4A1
|
Health Risk |
Likely pathogenic |
— |
| RS1555318552 |
CHD8
|
Health Risk |
Pathogenic |
Autism, Inborn genetic diseases |
| RS1555318633 |
CHD8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555318675 |
CHD8
|
Health Risk |
Pathogenic |
— |
| RS1555318734 |
CHD8
|
Health Risk |
Pathogenic |
CHD8-related disorder, CHD8-related disorder |
| RS1555320639 |
SLC7A7
|
Health Risk |
Pathogenic |
Lysinuric protein intolerance, Lysinuric protein intolerance |
| RS1555321206 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321237 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321264 |
FOXG1
|
Health Risk |
Pathogenic |
— |
| RS1555321279 |
FOXG1
|
Health Risk |
Pathogenic |
— |
| RS1555321294 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321301 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321302 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321308 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321311 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321325 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, Inborn genetic diseases |
| RS1555321334 |
FOXG1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, FOXG1 disorder |
| RS1555321337 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321339 |
FOXG1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555321345 |
FOXG1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, FOXG1 disorder |
| RS1555321351 |
FOXG1
|
Health Risk |
Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321353 |
FOXG1
|
Health Risk |
Pathogenic/Likely pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321366 |
FOXG1
|
Health Risk |
Pathogenic |
— |
| RS1555321367 |
FOXG1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1555321369 |
FOXG1
|
Health Risk |
Likely pathogenic |
— |
| RS1555321376 |
FOXG1
|
Health Risk |
Conflicting classifications of pathogenicity |
FOXG1 disorder, FOXG1 disorder |
| RS1555321380 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, FOXG1 disorder |
| RS1555321382 |
FOXG1
|
Health Risk |
Pathogenic |
FOXG1 disorder, Rett syndrome |
| RS1555321400 |
FOXG1
|
Health Risk |
Pathogenic |
— |
| RS1555321402 |
FOXG1
|
Health Risk |
Likely pathogenic |
Primary microcephaly, Severe intellectual disability |
| RS1555321405 |
FOXG1
|
Health Risk |
Pathogenic |
Inborn genetic diseases, FOXG1 disorder |
| RS1555322554 |
ORAI1
|
Health Risk |
Conflicting classifications of pathogenicity |
Combined immunodeficiency due to ORAI1 deficiency, Myopathy |
| RS1555322558 |
ORAI1
|
Health Risk |
Pathogenic |
Combined immunodeficiency due to ORAI1 deficiency, Combined immunodeficiency due to ORAI1 deficiency |
| RS1555322610 |
ORAI1
|
Health Risk |
Pathogenic |
Myopathy, tubular aggregate |
| RS1555324160 |
ORAI1
|
Health Risk |
Likely pathogenic |
Combined immunodeficiency due to ORAI1 deficiency, Myopathy |
| RS1555327099 |
MGAT2
|
Health Risk |
Likely pathogenic |
— |
| RS1555327430 |
DNAAF2
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1555327702 |
PCCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555327732 |
PCCA
|
Health Risk |
Likely pathogenic |
Propionic acidemia, Propionic acidemia |
| RS1555327917 |
DNAAF2
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |