| RS2544470298 |
PPM1D
|
Health Risk |
Pathogenic |
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold |
| RS2544472144 |
KANSL1
|
Health Risk |
Pathogenic |
— |
| RS2544473384 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544475284 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544475779 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544476516 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544477641 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544478263 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544478310 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544478713 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544479059 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544485110 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544486450 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544486476 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544489480 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544490239 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544491095 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544491473 |
RPGRIP1L
|
Health Risk |
Likely pathogenic |
— |
| RS2544491788 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544492460 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544492635 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544494019 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544495371 |
KIAA0753
|
Health Risk |
Likely pathogenic |
— |
| RS2544495876 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544496939 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544496983 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544497246 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544498725 |
LMF1
|
Health Risk |
Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS2544498925 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544499041 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544499425 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544510995 |
NF1
|
Health Risk |
Pathogenic |
Cardiovascular phenotype, Hereditary cancer-predisposing syndrome |
| RS2544511115 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544511197 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544511271 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544511279 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2544511498 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544511554 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544511642 |
NF1
|
Health Risk |
Pathogenic |
Neurofibromatosis, type 1 |
| RS2544511668 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Cardiovascular phenotype |
| RS2544513005 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544513749 |
RPGRIP1L
|
Health Risk |
Conflicting classifications of pathogenicity |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544513815 |
SIAH1
|
Health Risk |
Conflicting classifications of pathogenicity |
See cases, See cases |
| RS2544513949 |
SIAH1
|
Health Risk |
Likely pathogenic |
See cases, See cases |
| RS2544514083 |
SIAH1
|
Health Risk |
Likely pathogenic |
Buratti-Harel syndrome, Buratti-Harel syndrome |
| RS2544514321 |
SIAH1
|
Health Risk |
Likely pathogenic |
— |
| RS2544514428 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544514798 |
CIITA
|
Health Risk |
Pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544518657 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544519897 |
CA4
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS2544520280 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544520480 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544521172 |
TSC2
|
Health Risk |
Likely pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544521795 |
TSC2
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544521814 |
KDM6B
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Inborn genetic diseases |
| RS2544521866 |
KDM6B
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Intellectual disability |
| RS2544523557 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544523614 |
KDM6B
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544523985 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544524391 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544524513 |
KDM6B
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544524865 |
KDM6B
|
Health Risk |
Likely pathogenic |
KDM6B-related disorder, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544525230 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544525742 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544526206 |
KDM6B
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2544526292 |
KDM6B
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544526488 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544526628 |
KDM6B
|
Health Risk |
Likely pathogenic |
KDM6B-related disorder, KDM6B-related disorder |
| RS2544526812 |
KDM6B
|
Health Risk |
Pathogenic |
— |
| RS2544527581 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544527637 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544527912 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544527999 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544528436 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544528483 |
CA4
|
Health Risk |
Likely pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2544528620 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544528647 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544528754 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544529151 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544529915 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544529971 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544531959 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544532079 |
KDM6B
|
Health Risk |
Pathogenic/Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544532487 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544532565 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533127 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533271 |
KDM6B
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533330 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533809 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533842 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544533899 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544534176 |
KDM6B
|
Health Risk |
Pathogenic |
— |
| RS2544534181 |
KDM6B
|
Health Risk |
Likely pathogenic |
— |
| RS2544534286 |
KDM6B
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2544534309 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544534894 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536305 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536342 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536369 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |
| RS2544536378 |
KDM6B
|
Health Risk |
Likely pathogenic |
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities |