| RS1223755856 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Familial cancer of breast |
| RS1223763703 |
USH1C
|
Health Risk |
Pathogenic |
Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A |
| RS1223784415 |
MYO7A
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 11, Retinal dystrophy |
| RS1223788672 |
PLA2G6
|
Health Risk |
Pathogenic/Likely pathogenic |
PLA2G6-associated neurodegeneration, Infantile neuroaxonal dystrophy |
| RS1223795843 |
TET2
|
Health Risk |
Pathogenic |
— |
| RS1223799508 |
TSC1
|
Health Risk |
Conflicting classifications of pathogenicity |
Tuberous sclerosis 1, Tuberous sclerosis syndrome |
| RS1223799853 |
DNAH8
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1223818578 |
FECH
|
Health Risk |
Pathogenic |
FECH-related disorder, FECH-related disorder |
| RS1223829978 |
CYB5R3
|
Health Risk |
Pathogenic |
Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase |
| RS1223838167 |
AHI1
|
Health Risk |
Pathogenic |
Joubert syndrome, Joubert syndrome |
| RS1223848239 |
GALNS
|
Health Risk |
Likely pathogenic |
Mucopolysaccharidosis, MPS-IV-A |
| RS1223863177 |
DYNC2H1
|
Health Risk |
Likely pathogenic |
Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3 |
| RS1223869705 |
PTPN11
|
Health Risk |
Conflicting classifications of pathogenicity |
Noonan syndrome, RASopathy |
| RS1223873838 |
MPDZ
|
Health Risk |
Pathogenic |
Inborn genetic diseases, Inborn genetic diseases |
| RS1223885403 |
PYGM
|
Health Risk |
Pathogenic/Likely pathogenic |
Glycogen storage disease, type V |
| RS1223885458 |
TTN
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J |
| RS1223905716 |
KMT2D
|
Health Risk |
Conflicting classifications of pathogenicity |
KMT2D-related disorder, Kabuki syndrome 1 |
| RS1223905930 |
NF1
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Neurofibromatosis |
| RS1223907858 |
DYNC2H1
|
Health Risk |
Pathogenic/Likely pathogenic |
Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3 |
| RS1223920489 |
FZD2
|
Health Risk |
Likely pathogenic |
Autosomal dominant Robinow syndrome 2, Autosomal dominant Robinow syndrome 1 |
| RS1223946044 |
NPHS1
|
Health Risk |
Conflicting classifications of pathogenicity |
Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome |
| RS1223965579 |
PCNT
|
Health Risk |
Pathogenic |
— |
| RS1223970955 |
ARID1A
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1223982382 |
SLC29A3
|
Health Risk |
Pathogenic |
H syndrome, H syndrome |
| RS1223983117 |
MSH6
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 5 |
| RS1223992285 |
MLC1
|
Health Risk |
Likely pathogenic |
Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1 |
| RS1224000198 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Dilated cardiomyopathy 1GG, Mitochondrial complex II deficiency |
| RS1224014742 |
BBS2
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, Bardet-Biedl syndrome 2 |
| RS1224034435 |
FANCG
|
Health Risk |
Likely pathogenic |
Fanconi anemia, Fanconi anemia complementation group G |
| RS1224034842 |
BRIP1
|
Health Risk |
Conflicting classifications of pathogenicity |
Familial cancer of breast, Fanconi anemia complementation group J |
| RS1224040268 |
PTEN
|
Health Risk |
Pathogenic |
PTEN hamartoma tumor syndrome, 7 conditions |
| RS1224073597 |
CDH23
|
Health Risk |
Likely pathogenic |
Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12 |
| RS1224083058 |
COL2A1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1224086145 |
FLNC
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Hypertrophic cardiomyopathy 26 |
| RS1224090803 |
GBE1
|
Health Risk |
Likely pathogenic |
Glycogen storage disease, type IV |
| RS1224091418 |
ANO4
|
Health Risk |
Pathogenic |
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS1224101411 |
BCKDHB
|
Health Risk |
Pathogenic/Likely pathogenic |
Maple syrup urine disease, Maple syrup urine disease type 1B |
| RS1224120349 |
BRCA2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome |
| RS1224128266 |
F9
|
Health Risk |
Pathogenic |
Hereditary factor IX deficiency disease, F9-related disorder |
| RS1224137237 |
TEX15
|
Health Risk |
Likely pathogenic |
Spermatogenic failure 25, Spermatogenic failure 25 |
| RS1224165687 |
DES
|
Health Risk |
Pathogenic |
Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy |
| RS1224169161 |
TCTN3
|
Health Risk |
Likely pathogenic |
Orofacial-digital syndrome IV, Joubert syndrome 18 |
| RS1224174574 |
PIDD1
|
Health Risk |
Pathogenic |
Intellectual disability, Intellectual developmental disorder |
| RS1224187912 |
SDHA
|
Health Risk |
Conflicting classifications of pathogenicity |
Mitochondrial complex II deficiency, nuclear type 1 |
| RS1224224276 |
PEX2
|
Health Risk |
Pathogenic |
Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger) |
| RS1224226554 |
CPT1A
|
Health Risk |
Likely pathogenic |
Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency |
| RS1224227320 |
CLCN1
|
Health Risk |
Likely pathogenic |
Congenital myotonia, autosomal dominant form |
| RS1224279673 |
PHGDH
|
Health Risk |
Likely pathogenic |
PHGDH deficiency, Neu-Laxova syndrome 1 |
| RS1224306184 |
HFE
|
Health Risk |
Likely pathogenic |
Hereditary hemochromatosis, Hereditary hemochromatosis |
| RS1224308508 |
MKKS
|
Health Risk |
Pathogenic |
Bardet-Biedl syndrome, McKusick-Kaufman syndrome |
| RS1224310163 |
MYH14
|
Health Risk |
Pathogenic |
— |
| RS1224313284 |
RAB3GAP1
|
Health Risk |
Likely pathogenic |
RAB3GAP1-related disorder, RAB3GAP1-related disorder |
| RS1224319934 |
MAN2B1
|
Health Risk |
Likely pathogenic |
Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase |
| RS1224321111 |
TNNT1
|
Health Risk |
Pathogenic |
Nemaline myopathy 5, Nemaline myopathy 5 |
| RS1224359023 |
SLC25A15
|
Health Risk |
Likely pathogenic |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome |
| RS1224364754 |
MSH2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1224397184 |
BMPR2
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary pulmonary hypertension, Pulmonary hypertension |
| RS1224421127 |
NDUFAF6
|
Health Risk |
Likely pathogenic |
Developmental regression, Developmental regression |
| RS1224423439 |
PIGG
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability, autosomal recessive 53 |
| RS1224428422 |
PALB2
|
Health Risk |
Pathogenic/Likely pathogenic |
Familial cancer of breast, Hereditary cancer-predisposing syndrome |
| RS1224431670 |
POLD1
|
Health Risk |
Conflicting classifications of pathogenicity |
Colorectal cancer, susceptibility to |
| RS1224432118 |
COL6A1
|
Health Risk |
Conflicting classifications of pathogenicity |
Bethlem myopathy 1A, Inborn genetic diseases |
| RS1224448657 |
HERC2
|
Health Risk |
Likely pathogenic |
Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability |
| RS122445093 |
ATRX
|
Health Risk |
Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445094 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445095 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445096 |
ATRX
|
Health Risk |
Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445097 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445098 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445099 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome |
| RS122445100 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445101 |
ATRX
|
Health Risk |
Pathogenic |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS122445102 |
ATRX
|
Health Risk |
Pathogenic |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS122445103 |
ATRX
|
Health Risk |
Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome |
| RS122445104 |
ATRX
|
Health Risk |
Pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome |
| RS122445105 |
ATRX
|
Health Risk |
Pathogenic/Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases |
| RS122445106 |
ATRX
|
Health Risk |
Pathogenic/Likely pathogenic |
Alpha thalassemia-X-linked intellectual disability syndrome, Intellectual disability-hypotonic facies syndrome |
| RS122445107 |
ATRX
|
Health Risk |
Pathogenic |
Acquired hemoglobin H disease, Acquired hemoglobin H disease |
| RS122445108 |
ATRX
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS122445109 |
ATRX
|
Health Risk |
Pathogenic |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS122445110 |
ATRX
|
Health Risk |
Conflicting classifications of pathogenicity |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS122445111 |
ATRX
|
Health Risk |
Pathogenic/Likely pathogenic |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS122445112 |
ATRX
|
Health Risk |
Pathogenic |
Intellectual disability-hypotonic facies syndrome, X-linked |
| RS1224451609 |
COL4A2
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1224454019 |
NF1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neurofibromatosis, type 1 |
| RS1224466457 |
PIEZO1
|
Health Risk |
Conflicting classifications of pathogenicity |
Inborn genetic diseases, Inborn genetic diseases |
| RS1224474464 |
ZNF469
|
Health Risk |
Conflicting classifications of pathogenicity |
Cardiovascular phenotype, Brittle cornea syndrome 1 |
| RS1224475289 |
HSD17B4
|
Health Risk |
Likely pathogenic |
Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency |
| RS1224486316 |
WFS1
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1224505288 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS122453113 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Inborn genetic diseases |
| RS122453114 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS122453116 |
SLC6A8
|
Health Risk |
Pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS122453117 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS122453118 |
SLC6A8
|
Health Risk |
Likely pathogenic |
Creatine transporter deficiency, Creatine transporter deficiency |
| RS122453119 |
GPC3
|
Health Risk |
Pathogenic |
Wilms tumor 1, Wilms tumor 1 |
| RS122453121 |
GPC3
|
Health Risk |
Pathogenic |
Simpson-Golabi-Behmel syndrome type 1, Wilms tumor 1 |
| RS1224538282 |
PLOD1
|
Health Risk |
Pathogenic |
Ehlers-Danlos syndrome, kyphoscoliotic type 1 |
| RS122454122 |
SMC1A
|
Health Risk |
Pathogenic |
Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome |
| RS122454123 |
SMC1A
|
Health Risk |
Pathogenic |
Congenital muscular hypertrophy-cerebral syndrome, Posterior fossa group A ependymoma |