| RS2542973531 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2542973598 |
BBS4
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2542973615 |
DMXL2
|
Health Risk |
Likely pathogenic |
— |
| RS2542973797 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2542974244 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2542977485 |
UBR1
|
Health Risk |
Likely pathogenic |
— |
| RS2542978730 |
TUBGCP4
|
Health Risk |
Likely pathogenic |
— |
| RS2542980248 |
DMXL2
|
Health Risk |
Likely pathogenic |
— |
| RS2542981693 |
SIN3A
|
Health Risk |
Likely pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542982542 |
SIN3A
|
Health Risk |
Conflicting classifications of pathogenicity |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542985744 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2542990029 |
GRIN2A
|
Health Risk |
Pathogenic |
Landau-Kleffner syndrome, Landau-Kleffner syndrome |
| RS2542991354 |
BBS4
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2542996984 |
BBS4
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2542997297 |
SIN3A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2542997324 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2542998063 |
UBR1
|
Health Risk |
Pathogenic |
— |
| RS2542998133 |
SIN3A
|
Health Risk |
Pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2542998198 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2542999063 |
BBS4
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2542999715 |
TRIP11
|
Health Risk |
Likely pathogenic |
Achondrogenesis, type IA |
| RS2543001376 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome |
| RS2543001967 |
KIAA0586
|
Health Risk |
Likely pathogenic |
Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2543003338 |
KIAA0586
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2543005176 |
DICER1
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition |
| RS2543005572 |
UBR1
|
Health Risk |
Pathogenic |
— |
| RS2543005630 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS2543005702 |
UBR1
|
Health Risk |
Pathogenic |
— |
| RS2543005722 |
UBR1
|
Health Risk |
Likely pathogenic |
UBR1-related disorder, UBR1-related disorder |
| RS2543005745 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS2543006253 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS2543006302 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type 1 |
| RS2543006403 |
CHST14
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, musculocontractural type |
| RS2543007689 |
UBR1
|
Health Risk |
Pathogenic |
— |
| RS2543007696 |
UBR1
|
Health Risk |
Likely pathogenic |
— |
| RS2543008060 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543008067 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543008239 |
BBS4
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS2543008525 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543008537 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543008738 |
GNB5
|
Health Risk |
Likely pathogenic |
GNB5-related disorder, GNB5-related disorder |
| RS2543008806 |
GNB5
|
Health Risk |
Pathogenic |
Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Gnb5-related intellectual disability-cardiac arrhythmia syndrome |
| RS2543010266 |
UBR1
|
Health Risk |
Likely pathogenic |
— |
| RS2543011277 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543011317 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543011927 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543012369 |
BBS4
|
Health Risk |
Pathogenic/Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 4 |
| RS2543012535 |
BBS4
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome |
| RS2543012612 |
UBR1
|
Health Risk |
Likely pathogenic |
— |
| RS2543012774 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome |
| RS2543012789 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543012908 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543016391 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543016641 |
TUBGCP4
|
Health Risk |
Pathogenic |
— |
| RS2543016839 |
SIN3A
|
Health Risk |
Pathogenic |
Inborn genetic diseases, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2543017132 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543017151 |
BBS4
|
Health Risk |
Likely pathogenic |
Bardet-Biedl syndrome 4, Bardet-Biedl syndrome 4 |
| RS2543019173 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543020037 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543020089 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543022168 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A |
| RS2543022225 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543022245 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543022350 |
ETFA
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543022358 |
ETFA
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543023364 |
ETFA
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543023391 |
ETFA
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543023523 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543023661 |
ETFA
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025165 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025196 |
ETFA
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025247 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025251 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543025683 |
TRIP11
|
Health Risk |
Likely pathogenic |
TRIP11-related disorder, TRIP11-related disorder |
| RS2543027578 |
TRIP11
|
Health Risk |
Pathogenic |
Achondrogenesis, type IA |
| RS2543028196 |
TRIP11
|
Health Risk |
Pathogenic |
Achondrogenesis, type IA |
| RS2543029003 |
TRIP11
|
Health Risk |
Likely pathogenic |
— |
| RS2543029378 |
TRIP11
|
Health Risk |
Pathogenic |
Achondrogenesis, type IA |
| RS2543029888 |
TRIP11
|
Health Risk |
Pathogenic |
Achondrogenesis, type IA |
| RS2543030185 |
TRIP11
|
Health Risk |
Pathogenic |
Achondrogenesis, type IA |
| RS2543031034 |
TRIP11
|
Health Risk |
Pathogenic |
Achondrogenesis, type IA |
| RS2543031258 |
DICER1
|
Health Risk |
Likely pathogenic |
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome, Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome |
| RS2543032159 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032160 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032272 |
ETFA
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032349 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032494 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032548 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543032565 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543033749 |
DICER1
|
Health Risk |
Pathogenic/Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543035478 |
SIN3A
|
Health Risk |
Pathogenic |
SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation |
| RS2543038200 |
DICER1
|
Health Risk |
Likely pathogenic |
DICER1-related tumor predisposition, DICER1-related tumor predisposition |
| RS2543041315 |
UBR1
|
Health Risk |
Likely pathogenic |
UBR1-related disorder, UBR1-related disorder |
| RS2543044879 |
UBR1
|
Health Risk |
Likely pathogenic |
— |
| RS2543044886 |
UBR1
|
Health Risk |
Pathogenic |
— |
| RS2543044907 |
UBR1
|
Health Risk |
Pathogenic |
— |
| RS2543051746 |
ETFA
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS2543051984 |
PIGB
|
Health Risk |
Pathogenic |
— |
| RS2543059288 |
TRIP11
|
Health Risk |
Pathogenic |
Achondrogenesis, type IA |
| RS2543059711 |
GPHN
|
Health Risk |
Pathogenic |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C |