| RS1580033751 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS1580033845 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580034745 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580035033 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS1580035037 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome |
| RS1580035130 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1580045730 |
MSH3
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS1580051120 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580053760 |
MSH3
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 4, Familial adenomatous polyposis 4 |
| RS1580053768 |
MSH3
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS1580059038 |
KIF2A
|
Health Risk |
Pathogenic |
Complex cortical dysplasia with other brain malformations 3, Complex cortical dysplasia with other brain malformations 3 |
| RS1580060938 |
DNAH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS1580066605 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS1580072662 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580075457 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1580084520 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS1580090765 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1580091499 |
MSH3
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS1580091512 |
MSH3
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4 |
| RS1580091611 |
MSH3
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Endometrial carcinoma |
| RS1580091639 |
MSH3
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580098946 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1580110270 |
F11
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1580117891 |
LIFR
|
Health Risk |
Pathogenic |
Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome |
| RS1580121683 |
ARSB
|
Health Risk |
Pathogenic/Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1580143916 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580150353 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580169508 |
ARSB
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6 |
| RS1580179449 |
RASA1
|
Health Risk |
Pathogenic |
— |
| RS1580179985 |
DNAH5
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580180757 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS1580193628 |
SKIC3
|
Health Risk |
Pathogenic |
— |
| RS1580193741 |
SKIC3
|
Health Risk |
Likely pathogenic |
Trichohepatoenteric syndrome, Trichohepatoenteric syndrome |
| RS1580203399 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Inborn genetic diseases |
| RS1580260232 |
PIK3R1
|
Health Risk |
Pathogenic |
Agammaglobulinemia 7, autosomal recessive |
| RS1580262965 |
PIK3R1
|
Health Risk |
Pathogenic |
Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases |
| RS1580273474 |
MCCC2
|
Health Risk |
Likely pathogenic |
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1580280976 |
MCCC2
|
Health Risk |
Pathogenic |
— |
| RS1580281124 |
MCCC2
|
Health Risk |
Conflicting classifications of pathogenicity |
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1580319814 |
MCCC2
|
Health Risk |
Pathogenic |
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1580323151 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580323183 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580328099 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1580329260 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1580329638 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1580337435 |
MCCC2
|
Health Risk |
Likely pathogenic |
3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency |
| RS1580358224 |
APC
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1580358296 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1580358347 |
NR2F1
|
Health Risk |
Likely pathogenic |
Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1580358650 |
NR2F1;NR2F1-AS1
|
Health Risk |
Likely pathogenic |
— |
| RS1580358677 |
NR2F1
|
Health Risk |
Likely pathogenic |
Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1580359502 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580359575 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1580360308 |
NR2F1
|
Health Risk |
Pathogenic |
Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome |
| RS1580362269 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580363231 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580372126 |
NIPBL
|
Health Risk |
Pathogenic |
— |
| RS1580373035 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580375996 |
CCNH;RASA1
|
Health Risk |
Pathogenic |
— |
| RS1580377105 |
HEXB
|
Health Risk |
Pathogenic |
Sandhoff disease, infantile form |
| RS1580379633 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580383744 |
SPEF2
|
Health Risk |
Pathogenic |
Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1580386963 |
RASA1
|
Health Risk |
Pathogenic |
Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation 1 |
| RS1580394003 |
RASA1
|
Health Risk |
Likely pathogenic |
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS1580394197 |
NIPBL
|
Health Risk |
Pathogenic/Likely pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580396071 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580396712 |
ETFDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580396767 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580399696 |
DNAH5
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580402818 |
MCIDAS
|
Health Risk |
Pathogenic |
Ciliary dyskinesia, primary |
| RS1580406119 |
ETFDH
|
Health Risk |
Pathogenic/Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580411207 |
CCNO
|
Health Risk |
Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580412021 |
CCNO
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580415323 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580418269 |
RASA1
|
Health Risk |
Likely pathogenic |
Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome |
| RS1580422659 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580422708 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580423432 |
ETFDH
|
Health Risk |
Likely pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580423534 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1580423584 |
APC
|
Health Risk |
Pathogenic |
APC-related disorder, Familial adenomatous polyposis 1 |
| RS1580424314 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1580424505 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1580425629 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580425904 |
ETFDH
|
Health Risk |
Pathogenic |
Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency |
| RS1580436698 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580451470 |
NIPBL
|
Health Risk |
Pathogenic |
Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1 |
| RS1580454483 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1580454619 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580457416 |
DNAH5
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS1580465796 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 3 |
| RS1580511939 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1580511959 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1580516055 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1580524265 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1580526958 |
DNAJC21
|
Health Risk |
Pathogenic/Likely pathogenic |
Bone marrow failure syndrome 3, Bone marrow failure syndrome 3 |
| RS1580527839 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1580528776 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1580529760 |
SPEF2
|
Health Risk |
Pathogenic |
Spermatogenic failure 43, Spermatogenic failure 43 |
| RS1580530177 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1580530779 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |