| RS1977171852 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977172596 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977184377 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977185603 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977196635 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1977208852 |
ALOX12B
|
Health Risk |
Likely pathogenic |
Autosomal recessive congenital ichthyosis 2, Lamellar ichthyosis |
| RS1977400475 |
COL4A4
|
Health Risk |
Pathogenic/Likely pathogenic |
Hematuria, benign familial |
| RS1978296625 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978296638 |
ALOX12B
|
Health Risk |
Likely pathogenic |
— |
| RS1978296717 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978297341 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978297429 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978297441 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978304609 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978304974 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978305028 |
ALOX12B
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2 |
| RS1978513963 |
MIEF2
|
Health Risk |
Pathogenic |
Combined oxidative phosphorylation deficiency 49, Combined oxidative phosphorylation deficiency 49 |
| RS1978602545 |
DNMT3B
|
Health Risk |
Pathogenic |
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS1978897991 |
PPP2R1A
|
Health Risk |
Likely pathogenic |
Houge-Janssens syndrome 2, Houge-Janssens syndrome 2 |
| RS1979019949 |
PROKR2
|
Health Risk |
Likely pathogenic |
Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia |
| RS1979042162 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979055447 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979055873 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979652729 |
DNMT3B
|
Health Risk |
Pathogenic |
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS1979785 |
COL9A2
|
Health Risk |
Conflicting classifications of pathogenicity |
COL9A2-related disorder, COL9A2-related disorder |
| RS1979801533 |
SLC2A10
|
Health Risk |
Likely pathogenic |
Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS1979807431 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979832889 |
LAMA5
|
Health Risk |
Likely pathogenic |
Nephrotic syndrome, IIa 26 |
| RS1979855248 |
SLC2A10
|
Health Risk |
Pathogenic |
Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS1979881056 |
ALOXE3
|
Health Risk |
Likely pathogenic |
— |
| RS1979909742 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979916239 |
ALOXE3
|
Health Risk |
Likely pathogenic |
— |
| RS1979917479 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979924544 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979931284 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979966591 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1979990258 |
DNMT3B
|
Health Risk |
Conflicting classifications of pathogenicity |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1 |
| RS1980007276 |
SLC2A10
|
Health Risk |
Likely pathogenic |
Arterial tortuosity syndrome, Arterial tortuosity syndrome |
| RS1980084767 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980145171 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980519313 |
KCNB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 26 |
| RS1980522554 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980531569 |
KCNB1
|
Health Risk |
Conflicting classifications of pathogenicity |
Developmental and epileptic encephalopathy, 26 |
| RS1980561227 |
TOP3A
|
Health Risk |
Likely pathogenic |
— |
| RS1980627156 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980629564 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980698221 |
LAMA5
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1980748884 |
ALOXE3
|
Health Risk |
Pathogenic |
Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3 |
| RS1980761409 |
ADNP
|
Health Risk |
Likely pathogenic |
— |
| RS1980763449 |
ADNP
|
Health Risk |
Likely pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1980777288 |
ADNP
|
Health Risk |
Pathogenic/Likely pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Inborn genetic diseases |
| RS1980865169 |
ADNP
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1980870018 |
ADNP
|
Health Risk |
Pathogenic |
— |
| RS1980878343 |
ADNP
|
Health Risk |
Likely pathogenic |
Autism spectrum disorder, Autism spectrum disorder |
| RS1980913274 |
ADNP
|
Health Risk |
Likely pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1980968803 |
ADNP
|
Health Risk |
Pathogenic |
— |
| RS1980971358 |
ADNP
|
Health Risk |
Pathogenic |
— |
| RS1980973531 |
ADNP
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1981021559 |
ADNP
|
Health Risk |
Pathogenic |
Intellectual disability, ADNP-related disorder |
| RS1981025573 |
KCNE1
|
Health Risk |
Conflicting classifications of pathogenicity |
Long QT syndrome 5, Long QT syndrome 5 |
| RS1981037102 |
DNMT3B
|
Health Risk |
Conflicting classifications of pathogenicity |
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS1981038382 |
ADNP
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual disability |
| RS1981049319 |
ADNP
|
Health Risk |
Pathogenic |
— |
| RS1981065982 |
ADNP
|
Health Risk |
Likely pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1981068436 |
ADNP
|
Health Risk |
Pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1981083173 |
ADNP
|
Health Risk |
Pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1981115656 |
ADNP
|
Health Risk |
Pathogenic |
— |
| RS1981116316 |
ADNP
|
Health Risk |
Likely pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1981125064 |
ADNP
|
Health Risk |
Pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1981147033 |
ADNP
|
Health Risk |
Pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1981170986 |
ADNP
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1981200603 |
OSBPL2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67 |
| RS1981202197 |
OSBPL2
|
Health Risk |
Pathogenic |
Autosomal dominant nonsyndromic hearing loss 67, Autosomal dominant nonsyndromic hearing loss 67 |
| RS1981392635 |
ZNFX1
|
Health Risk |
Pathogenic |
Immunodeficiency 91 and hyperinflammation, Immunodeficiency 91 and hyperinflammation |
| RS1981470800 |
DNMT3B
|
Health Risk |
Pathogenic |
Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency |
| RS1981524462 |
CBS
|
Health Risk |
Likely pathogenic |
HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS1981682654 |
CBS
|
Health Risk |
Likely pathogenic |
Classic homocystinuria, Classic homocystinuria |
| RS1981696579 |
CBS
|
Health Risk |
Conflicting classifications of pathogenicity |
Classic homocystinuria, HYPERHOMOCYSTEINEMIA |
| RS1981959745 |
PLCB1
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, 12 |
| RS1982142302 |
FERMT1
|
Health Risk |
Pathogenic |
Kindler syndrome, Kindler syndrome |
| RS1982228705 |
ADNP
|
Health Risk |
Pathogenic |
Intellectual disability, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder |
| RS1982229334 |
ADNP
|
Health Risk |
Pathogenic/Likely pathogenic |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, See cases |
| RS1982268239 |
FERMT1
|
Health Risk |
Pathogenic |
Kindler syndrome, Kindler syndrome |
| RS1982493665 |
CBS
|
Health Risk |
Likely pathogenic |
Classic homocystinuria, Classic homocystinuria |
| RS1982504069 |
CBS
|
Health Risk |
Pathogenic/Likely pathogenic |
Classic homocystinuria, Homocystinuria |
| RS1982513394 |
CBS
|
Health Risk |
Pathogenic |
Classic homocystinuria, Classic homocystinuria |
| RS1982601982 |
CBS
|
Health Risk |
Likely pathogenic |
Classic homocystinuria, Classic homocystinuria |
| RS1982618780 |
CBS
|
Health Risk |
Pathogenic |
HYPERHOMOCYSTEINEMIA, THROMBOTIC |
| RS1982750491 |
CBS
|
Health Risk |
Conflicting classifications of pathogenicity |
Classic homocystinuria, HYPERHOMOCYSTEINEMIA |
| RS1982922536 |
NDUFAF5
|
Health Risk |
Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 16 |
| RS1982940735 |
NDUFAF5
|
Health Risk |
Pathogenic/Likely pathogenic |
Mitochondrial complex I deficiency, nuclear type 16 |
| RS1982970899 |
NLRP5
|
Health Risk |
Likely pathogenic |
Preimplantation lethality, Preimplantation lethality |
| RS1983080839 |
FERMT1
|
Health Risk |
Pathogenic |
Kindler syndrome, Kindler syndrome |
| RS1983207985 |
FERMT1
|
Health Risk |
Likely pathogenic |
Kindler syndrome, Kindler syndrome |
| RS1983290330 |
VAMP2
|
Health Risk |
Likely pathogenic |
— |
| RS1983317112 |
VAMP2
|
Health Risk |
Likely pathogenic |
— |
| RS1983318892 |
VAMP2
|
Health Risk |
Likely pathogenic |
— |
| RS1983332740 |
ITCH
|
Health Risk |
Pathogenic |
Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency |
| RS1983361683 |
VAMP2
|
Health Risk |
Pathogenic |
— |
| RS1983378020 |
HCN2
|
Health Risk |
Pathogenic/Likely pathogenic |
HCN2 related developmental and epileptic encephalopathy, Epilepsy |