| RS1554081108 |
TCOF1
|
Health Risk |
Pathogenic/Likely pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS1554081112 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS1554081168 |
TCOF1
|
Health Risk |
Pathogenic |
Treacher Collins syndrome 1, Treacher Collins syndrome 1 |
| RS1554081281 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554081288 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554081619 |
ADGRV1
|
Health Risk |
Pathogenic/Likely pathogenic |
Usher syndrome, Usher syndrome |
| RS1554081629 |
APC
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554081631 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554081633 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554081640 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554081658 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1554081669 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554081719 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS1554081749 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial multiple polyposis syndrome |
| RS1554081752 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554081762 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554081884 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554081886 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554081889 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary cancer |
| RS1554081901 |
APC
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554081906 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1554081910 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554081921 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554081930 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS1554081934 |
APC
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554081950 |
SMN1
|
Health Risk |
Pathogenic/Likely pathogenic |
— |
| RS1554081951 |
SMN1
|
Health Risk |
Likely pathogenic |
— |
| RS1554081968 |
SMN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Spinal muscular atrophy, Spinal muscular atrophy |
| RS1554082079 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554082082 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554082091 |
APC
|
Health Risk |
Likely pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554082100 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554082110 |
SMN1
|
Health Risk |
Pathogenic |
Werdnig-Hoffmann disease, Spinal muscular atrophy |
| RS1554082113 |
SMN1
|
Health Risk |
Conflicting classifications of pathogenicity |
Spinal muscular atrophy, Spinal muscular atrophy |
| RS1554082114 |
SMN1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1554082118 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Colorectal cancer |
| RS1554082135 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554082275 |
DNAH5
|
Health Risk |
Pathogenic |
Kartagener syndrome, Primary ciliary dyskinesia |
| RS1554082383 |
SMN1
|
Health Risk |
Likely pathogenic |
Spinal muscular atrophy, Spinal muscular atrophy |
| RS1554082832 |
F11
|
Health Risk |
Pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554082872 |
DNAH5
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1554082932 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554082938 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554083100 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554083122 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1554083132 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, 6 conditions |
| RS1554083134 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554083160 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554083164 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554083205 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554083227 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554083247 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554083251 |
CPLANE1
|
Health Risk |
Pathogenic |
— |
| RS1554083255 |
APC
|
Health Risk |
Likely pathogenic |
— |
| RS1554083576 |
GLRA1
|
Health Risk |
Likely pathogenic |
Hereditary hyperekplexia, Hereditary hyperekplexia |
| RS1554083727 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554083734 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554083736 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554083753 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554083754 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554083758 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554083862 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554083888 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554083898 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554083930 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554083941 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554083964 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554083981 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial adenomatous polyposis 1 |
| RS1554083984 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554083990 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554083998 |
APC
|
Health Risk |
Pathogenic |
Carcinoma of colon, Carcinoma of colon |
| RS1554084025 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders |
| RS1554084031 |
F11
|
Health Risk |
Likely pathogenic |
Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease |
| RS1554084079 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084080 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084100 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084124 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1554084141 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084159 |
APC
|
Health Risk |
Likely pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS1554084195 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084228 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554084249 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084266 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084281 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084299 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Carcinoma of colon |
| RS1554084318 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084360 |
CPLANE1
|
Health Risk |
Pathogenic |
Joubert syndrome 17, Joubert syndrome 17 |
| RS1554084375 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084389 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554084403 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |
| RS1554084454 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554084508 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Familial multiple polyposis syndrome |
| RS1554084511 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084512 |
APC
|
Health Risk |
Pathogenic |
Familial multiple polyposis syndrome, Classic or attenuated familial adenomatous polyposis |
| RS1554084529 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084531 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554084533 |
APC
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome |
| RS1554084541 |
APC
|
Health Risk |
Pathogenic |
— |
| RS1554084547 |
APC
|
Health Risk |
Pathogenic |
Familial adenomatous polyposis 1, Familial adenomatous polyposis 1 |
| RS1554084553 |
APC
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 |