| RS2544145079 |
BCKDK
|
Health Risk |
Pathogenic |
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS2544145738 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544145845 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1 |
| RS2544145930 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome |
| RS2544147093 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544148536 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544148797 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544148969 |
FLCN
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544149417 |
FLCN
|
Health Risk |
Likely pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544152864 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544153133 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544153711 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544154145 |
TSC2
|
Health Risk |
Pathogenic/Likely pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544154546 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Meckel-Gruber syndrome, Joubert syndrome |
| RS2544154688 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544155608 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544155741 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544156047 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis syndrome |
| RS2544156632 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
FANCA-related disorder, Fanconi anemia |
| RS2544156690 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544156694 |
TSC2
|
Health Risk |
Likely pathogenic |
TSC2-related disorder, TSC2-related disorder |
| RS2544156776 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544156828 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544156915 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544156945 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544157065 |
FANCA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Fanconi anemia complementation group A |
| RS2544160168 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544160342 |
JUP
|
Health Risk |
Pathogenic |
Naxos disease, Arrhythmogenic right ventricular dysplasia 12 |
| RS2544160435 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544160911 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544161026 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544161258 |
FLCN
|
Health Risk |
Likely pathogenic |
FLCN-related disorder, FLCN-related disorder |
| RS2544161279 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544161564 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544161621 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544161667 |
FLCN
|
Health Risk |
Pathogenic |
Chromophobe renal cell carcinoma, Chromophobe renal cell carcinoma |
| RS2544161792 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544162203 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544163066 |
FLCN
|
Health Risk |
Pathogenic/Likely pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544163111 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544163458 |
KAT8
|
Health Risk |
Pathogenic |
— |
| RS2544163778 |
KAT8
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2544164322 |
TSC2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544164533 |
KIAA0586
|
Health Risk |
Pathogenic |
Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2544167947 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544168188 |
FANCA
|
Health Risk |
Pathogenic |
— |
| RS2544172290 |
FLCN
|
Health Risk |
Pathogenic/Likely pathogenic |
Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1 |
| RS2544172442 |
FLCN
|
Health Risk |
Likely pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544174378 |
DNAH9
|
Health Risk |
Pathogenic |
— |
| RS2544174399 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544174512 |
DNAH9
|
Health Risk |
Pathogenic |
— |
| RS2544176879 |
DNAH9
|
Health Risk |
Likely pathogenic |
— |
| RS2544178360 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544178386 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544178473 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544178554 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544178563 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544178578 |
ANKRD11
|
Health Risk |
Likely pathogenic |
ANKRD11-related disorder, ANKRD11-related disorder |
| RS2544178749 |
ANKRD11
|
Health Risk |
Conflicting classifications of pathogenicity |
KBG syndrome, KBG syndrome |
| RS2544179444 |
JUP
|
Health Risk |
Pathogenic |
Naxos disease, Arrhythmogenic right ventricular dysplasia 12 |
| RS2544181623 |
ANKRD11
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS2544183326 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2544186932 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544187093 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544187101 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544187460 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544189947 |
TSC2
|
Health Risk |
Likely pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544192943 |
FLCN
|
Health Risk |
Likely pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544193402 |
FLCN
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544193577 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544193597 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544193658 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544193930 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544194010 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544194280 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544194629 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544195729 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS2544195824 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544195835 |
FANCA
|
Health Risk |
Conflicting classifications of pathogenicity |
Fanconi anemia, Inborn genetic diseases |
| RS2544195992 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544195997 |
AXIN2
|
Health Risk |
Likely pathogenic |
Colorectal cancer, Colorectal cancer |
| RS2544196005 |
AXIN2
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544196390 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544196484 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544196508 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544196558 |
AXIN2
|
Health Risk |
Pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544196807 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544197060 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544197097 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544197107 |
AXIN2
|
Health Risk |
Likely pathogenic |
Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome |
| RS2544197112 |
AXIN2
|
Health Risk |
Conflicting classifications of pathogenicity |
Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome |
| RS2544197198 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544197474 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544202460 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544202887 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group A |
| RS2544203421 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544205331 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544205607 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544205707 |
RPGRIP1L
|
Health Risk |
Pathogenic |
Joubert syndrome, Meckel-Gruber syndrome |
| RS2544206677 |
VPS33B
|
Health Risk |
Likely pathogenic |
VPS33B-related disorder, VPS33B-related disorder |