| RS2465785575 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2465785795 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465785922 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465785944 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465786112 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2465786205 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465786257 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Hereditary cancer-predisposing syndrome |
| RS2465786402 |
DNMT3A
|
Health Risk |
Pathogenic |
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2465786442 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465786835 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465786910 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465802780 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465805898 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465806368 |
IFT172
|
Health Risk |
Likely pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465811314 |
IFT172
|
Health Risk |
Pathogenic |
Retinal dystrophy, Retinal dystrophy |
| RS2465813537 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465814223 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465814260 |
MSH2
|
Health Risk |
Likely pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465814567 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2465814616 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465814742 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2465814761 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465814962 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465815071 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465815232 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465815475 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465815654 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome, Lynch syndrome |
| RS2465815678 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465815853 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2465815981 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465816221 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465816892 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465817211 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2465817699 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465817821 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS2465817993 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465818063 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465818561 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465818595 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465818807 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2465818911 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465819113 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2465819288 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465819429 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465819488 |
MSH2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465819577 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465819672 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465819769 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 1 |
| RS2465819942 |
MSH2
|
Health Risk |
Pathogenic |
Lynch syndrome 1, Lynch syndrome 1 |
| RS2465820624 |
MSH2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2465829202 |
NRXN1
|
Health Risk |
Pathogenic |
Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2 |
| RS2465831120 |
IFT172
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465833474 |
IFT172
|
Health Risk |
Likely pathogenic |
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465835167 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835245 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835379 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835384 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835392 |
SPAST
|
Health Risk |
Pathogenic |
— |
| RS2465835399 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835448 |
SPAST
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835571 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835665 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835765 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465835863 |
IFT172
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465836142 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465838176 |
SPAST
|
Health Risk |
Likely pathogenic |
— |
| RS2465838305 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465838551 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465838597 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465838666 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465838697 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465838759 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465839683 |
SPAST
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Hereditary spastic paraplegia 4 |
| RS2465853379 |
IFT172
|
Health Risk |
Likely pathogenic |
IFT172-related disorder, IFT172-related disorder |
| RS2465860656 |
SPAST
|
Health Risk |
Pathogenic/Likely pathogenic |
SPAST-related disorder, Hereditary spastic paraplegia 4 |
| RS2465860734 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465860845 |
SPAST
|
Health Risk |
Pathogenic |
— |
| RS2465861005 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465864227 |
IFT172
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465864684 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS2465864759 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465864806 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465864865 |
SPAST
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4 |
| RS2465864938 |
SPAST
|
Health Risk |
Likely pathogenic |
— |
| RS2465865784 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS2465866966 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS2465871916 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS2465873305 |
ALK
|
Health Risk |
Conflicting classifications of pathogenicity |
Neuroblastoma, susceptibility to |
| RS2465878465 |
CYP1B1
|
Health Risk |
Pathogenic |
Congenital glaucoma, Congenital glaucoma |
| RS2465878487 |
CYP1B1
|
Health Risk |
Pathogenic |
Congenital glaucoma, Congenital glaucoma |
| RS2465878490 |
CYP1B1
|
Health Risk |
Pathogenic |
Congenital glaucoma, Congenital glaucoma |
| RS2465878545 |
CYP1B1
|
Health Risk |
Pathogenic/Likely pathogenic |
Congenital glaucoma, Anterior segment dysgenesis 6 |
| RS2465878777 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465878804 |
IFT172
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71 |
| RS2465878985 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Anterior segment dysgenesis 6, Glaucoma 3A |
| RS2465878992 |
IFT172
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly |
| RS2465878993 |
CYP1B1
|
Health Risk |
Conflicting classifications of pathogenicity |
Anterior segment dysgenesis 6, Glaucoma 3A |
| RS2465879013 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Anterior segment dysgenesis 6, Anterior segment dysgenesis 6 |
| RS2465879029 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Anterior segment dysgenesis 6, Anterior segment dysgenesis 6 |
| RS2465882881 |
CYP1B1
|
Health Risk |
Likely pathogenic |
Anterior segment dysgenesis 6, Anterior segment dysgenesis 6 |