| RS2544311138 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544311791 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544312267 |
FA2H
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2544312335 |
FLCN
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544312685 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome |
| RS2544313773 |
FLCN
|
Health Risk |
Likely pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544313833 |
CCDC88C
|
Health Risk |
Likely pathogenic |
— |
| RS2544314814 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544314925 |
FLCN
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544315366 |
FLCN
|
Health Risk |
Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544315665 |
KIAA0753
|
Health Risk |
Likely pathogenic |
— |
| RS2544315808 |
FLCN
|
Health Risk |
Pathogenic |
Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome |
| RS2544316320 |
FA2H
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2544316692 |
FA2H
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2544322000 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544322133 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544322402 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544322685 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544324324 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis syndrome, Tuberous sclerosis syndrome |
| RS2544325280 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544325597 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544327623 |
FA2H
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2544327628 |
FA2H
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2544331670 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544335257 |
CCDC88C
|
Health Risk |
Likely pathogenic |
— |
| RS2544335297 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544336575 |
CCDC88C
|
Health Risk |
Likely pathogenic |
— |
| RS2544344603 |
FA2H
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35 |
| RS2544345786 |
CIITA
|
Health Risk |
Likely pathogenic |
MHC class II deficiency, MHC class II deficiency |
| RS2544347059 |
DLX3
|
Health Risk |
Likely pathogenic |
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism |
| RS2544348010 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544348065 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544348378 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544348561 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544349280 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544349369 |
ALDH3A2
|
Health Risk |
Pathogenic |
— |
| RS2544349490 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544352172 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544352825 |
KANSL1
|
Health Risk |
Pathogenic |
Koolen-de Vries syndrome, Koolen-de Vries syndrome |
| RS2544353624 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544356937 |
DNAH9
|
Health Risk |
Pathogenic |
— |
| RS2544357144 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544357172 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544357385 |
ALDH3A2
|
Health Risk |
Pathogenic |
— |
| RS2544357822 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544357981 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544360144 |
ALDH3A2
|
Health Risk |
Pathogenic |
— |
| RS2544360182 |
ALDH3A2
|
Health Risk |
Pathogenic |
— |
| RS2544360290 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544360487 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544360565 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544361047 |
CCDC88C
|
Health Risk |
Likely pathogenic |
CCDC88C-related disorder, CCDC88C-related disorder |
| RS2544361343 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544361669 |
CCDC88C
|
Health Risk |
Likely pathogenic |
— |
| RS2544362522 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544362718 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544362800 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544362904 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |
| RS2544364902 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544364915 |
FANCA
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544365253 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia |
| RS2544365573 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544366388 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544366495 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544369839 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544371353 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544371503 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544371571 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
ALDH3A2-related disorder, ALDH3A2-related disorder |
| RS2544371605 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372211 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372398 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372409 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
— |
| RS2544372582 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372602 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544372788 |
ALDH3A2
|
Health Risk |
Pathogenic/Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544373293 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544375856 |
ALDH3A2
|
Health Risk |
Pathogenic |
— |
| RS2544375892 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544376116 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544376202 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544378271 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544381008 |
TSC2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2544381683 |
TSC2
|
Health Risk |
Pathogenic |
Tuberous sclerosis 2, Tuberous sclerosis 2 |
| RS2544382014 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia complementation group A, Fanconi anemia |
| RS2544382059 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544382541 |
FANCA
|
Health Risk |
Pathogenic |
Fanconi anemia, Fanconi anemia |
| RS2544383508 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544383909 |
ALDH3A2
|
Health Risk |
Likely pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544384008 |
FA2H
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2544384375 |
FA2H
|
Health Risk |
Pathogenic |
Spastic paraplegia, Spastic paraplegia |
| RS2544384657 |
MYH10
|
Health Risk |
Likely pathogenic |
— |
| RS2544385363 |
DNAH9
|
Health Risk |
Likely pathogenic |
— |
| RS2544386395 |
ACTG1
|
Health Risk |
Conflicting classifications of pathogenicity |
ACTG1-related disorder, ACTG1-related disorder |
| RS2544386842 |
ACTG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2 |
| RS2544387148 |
ACTG1
|
Health Risk |
Conflicting classifications of pathogenicity |
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2 |
| RS2544388195 |
ACTG1
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2 |
| RS2544388437 |
KIAA0753
|
Health Risk |
Pathogenic |
— |
| RS2544389056 |
CCDC88C
|
Health Risk |
Pathogenic |
— |
| RS2544389390 |
ALDH3A2
|
Health Risk |
Pathogenic |
Sjögren-Larsson syndrome, Sjögren-Larsson syndrome |
| RS2544389395 |
FANCA
|
Health Risk |
Pathogenic/Likely pathogenic |
Fanconi anemia complementation group A, Fanconi anemia complementation group A |