| RS2071123075 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071133474 |
IKBKG
|
Health Risk |
Pathogenic/Likely pathogenic |
Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS2071139043 |
COL4A3
|
Health Risk |
Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2071141016 |
IKBKG
|
Health Risk |
Pathogenic |
Immunodeficiency 33, Immunodeficiency 33 |
| RS2071142257 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Alport syndrome, Hematuria |
| RS2071146837 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071147098 |
SLC9A6
|
Health Risk |
Pathogenic |
Christianson syndrome, Christianson syndrome |
| RS2071152135 |
DYM
|
Health Risk |
Pathogenic |
— |
| RS2071153160 |
GPC3
|
Health Risk |
Conflicting classifications of pathogenicity |
Wilms tumor 1, Simpson-Golabi-Behmel syndrome type 1 |
| RS2071160066 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071161458 |
IKBKG
|
Health Risk |
Pathogenic |
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED |
| RS2071164208 |
DYM
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS2071167272 |
IKBKG
|
Health Risk |
Pathogenic |
Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS2071168232 |
ATR
|
Health Risk |
Pathogenic |
— |
| RS2071168842 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071184414 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071184523 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071184953 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071185652 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071185757 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071187754 |
SPEN
|
Health Risk |
Pathogenic |
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2071189852 |
COL4A3
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome |
| RS2071193842 |
COL4A3
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal recessive Alport syndrome, Alport syndrome |
| RS2071203144 |
SPEN
|
Health Risk |
Pathogenic |
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2071205632 |
ATR
|
Health Risk |
Pathogenic |
— |
| RS2071205689 |
TNRC6B
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2071205857 |
SPEN
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2071207771 |
SPEN
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2071225938 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071226510 |
SPEN
|
Health Risk |
Conflicting classifications of pathogenicity |
Radio-Tartaglia syndrome, Radio-Tartaglia syndrome |
| RS2071226513 |
MADD
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with dysmorphic facies, impaired speech |
| RS2071227581 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071230096 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071233789 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071234346 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071236139 |
SPEN
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2071239657 |
SPEN
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Radio-Tartaglia syndrome |
| RS2071243064 |
SPEN
|
Health Risk |
Pathogenic/Likely pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS2071246388 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2071251239 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071251302 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder |
| RS2071252145 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071252641 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071253904 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071254166 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071255080 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071256607 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071258420 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071263125 |
CDH11
|
Health Risk |
Likely pathogenic |
— |
| RS2071264706 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071266269 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071269046 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071271385 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2071286355 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071286530 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071286572 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071288305 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071288883 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071289046 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071295138 |
SETBP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS2071295244 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071296420 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071296504 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071296591 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071296765 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071312 |
MEN1
|
Health Risk |
Likely pathogenic |
Multiple endocrine neoplasia, type 1 |
| RS2071313606 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071314703 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS2071316298 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071318911 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS2071332541 |
SETBP1
|
Health Risk |
Pathogenic |
Developmental disorder, Intellectual disability |
| RS2071334080 |
COL4A3
|
Health Risk |
Pathogenic |
Hematuria, Hematuria |
| RS2071336349 |
SETBP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS2071337130 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071337202 |
ACADVL
|
Health Risk |
Pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071338251 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071345821 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Abnormality of the musculature |
| RS2071346311 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071346777 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071355499 |
ACADVL
|
Health Risk |
Conflicting classifications of pathogenicity |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071356603 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071357855 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS2071360713 |
SETBP1
|
Health Risk |
Likely pathogenic |
Intellectual disability, Intellectual disability |
| RS2071362354 |
SETBP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Schinzel-Giedion syndrome, Inborn genetic diseases |
| RS2071364489 |
SETBP1
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 29 |
| RS2071365945 |
SETBP1
|
Health Risk |
Pathogenic |
— |
| RS2071366876 |
ACADVL
|
Health Risk |
Pathogenic/Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071371841 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071371983 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071372283 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS2071373150 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071377438 |
SETBP1
|
Health Risk |
Likely pathogenic |
Schinzel-Giedion syndrome, Schinzel-Giedion syndrome |
| RS2071382679 |
SETBP1
|
Health Risk |
Likely pathogenic |
— |
| RS2071382702 |
HTR2C
|
Health Risk |
Likely pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2071384107 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071385791 |
SETBP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability, autosomal dominant 29 |
| RS2071389822 |
SETBP1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2071390190 |
ILDR1
|
Health Risk |
Likely pathogenic |
Hearing loss, autosomal recessive |
| RS2071393587 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |
| RS2071395312 |
ACADVL
|
Health Risk |
Likely pathogenic |
Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency |