| RS1562370843 |
MED23
|
Health Risk |
Likely pathogenic |
— |
| RS1562371894 |
IMPG1
|
Health Risk |
Pathogenic |
— |
| RS1562372417 |
ARMC2
|
Health Risk |
Pathogenic |
Spermatogenic failure 38, Male infertility with teratozoospermia due to single gene mutation |
| RS1562374476 |
SNX14
|
Health Risk |
Likely pathogenic |
Autosomal recessive spinocerebellar ataxia 20, Autosomal recessive spinocerebellar ataxia 20 |
| RS1562380080 |
COL11A2
|
Health Risk |
Pathogenic |
— |
| RS1562381747 |
ARMC2
|
Health Risk |
Pathogenic |
Spermatogenic failure 38, Male infertility with teratozoospermia due to single gene mutation |
| RS1562389593 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS1562391520 |
USP45
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1562404571 |
AP5Z1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS1562406938 |
AP5Z1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS1562408256 |
AP5Z1
|
Health Risk |
Likely pathogenic |
Hereditary spastic paraplegia 48, Retinal dystrophy |
| RS1562408333 |
AP5Z1
|
Health Risk |
Likely pathogenic |
— |
| RS1562410566 |
AP5Z1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS1562413480 |
AP5Z1
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS1562414986 |
AP5Z1
|
Health Risk |
Pathogenic |
Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48 |
| RS1562430103 |
PRKN
|
Health Risk |
Likely pathogenic |
— |
| RS1562434099 |
PRPH2
|
Health Risk |
Pathogenic/Likely pathogenic |
Isolated macular dystrophy, Retinal dystrophy |
| RS1562434117 |
PRPH2
|
Health Risk |
Pathogenic |
Adult-onset foveomacular vitelliform dystrophy, Adult-onset foveomacular vitelliform dystrophy |
| RS1562435373 |
DST
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6 |
| RS1562435988 |
ARMC2
|
Health Risk |
Pathogenic |
Spermatogenic failure 38, Male infertility with teratozoospermia due to single gene mutation |
| RS1562436860 |
ARMC2
|
Health Risk |
Pathogenic |
Spermatogenic failure 38, Male infertility with teratozoospermia due to single gene mutation |
| RS1562443558 |
TAB2
|
Health Risk |
Pathogenic |
Congenital heart defects, multiple types |
| RS1562447782 |
EYA4
|
Health Risk |
Pathogenic |
— |
| RS1562449164 |
LAMA2
|
Health Risk |
Likely pathogenic |
Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS1562451730 |
LAMA2
|
Health Risk |
Pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related disorder |
| RS1562451985 |
RNF216
|
Health Risk |
Pathogenic |
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS1562456317 |
USP45
|
Health Risk |
Likely pathogenic |
Short stature, Short stature |
| RS1562458862 |
SERAC1
|
Health Risk |
Pathogenic |
3-methylglutaconic aciduria with deafness, encephalopathy |
| RS1562458915 |
SERAC1
|
Health Risk |
Pathogenic |
3-methylglutaconic aciduria with deafness, encephalopathy |
| RS1562470903 |
EYA4
|
Health Risk |
Likely pathogenic |
Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS1562481438 |
AHR
|
Health Risk |
Pathogenic |
Retinitis pigmentosa 85, Retinitis pigmentosa 85 |
| RS1562482694 |
AHR
|
Health Risk |
Pathogenic/Likely pathogenic |
Infantile nystagmus with foveal hypoplasia, Foveal hypoplasia 3 |
| RS1562485799 |
PRKN
|
Health Risk |
Pathogenic |
— |
| RS1562487424 |
INTS1
|
Health Risk |
Pathogenic |
Neurodevelopmental disorder with cataracts, poor growth |
| RS1562489143 |
SASH1
|
Health Risk |
Likely pathogenic |
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489156 |
SASH1
|
Health Risk |
Likely pathogenic |
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489165 |
SASH1
|
Health Risk |
Pathogenic |
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489224 |
SASH1
|
Health Risk |
Likely pathogenic |
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489240 |
SASH1
|
Health Risk |
Likely pathogenic |
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562490566 |
SASH1
|
Health Risk |
Likely pathogenic |
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562493608 |
HIVEP2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 43 |
| RS1562497781 |
LAMA2
|
Health Risk |
Pathogenic |
Muscular dystrophy, limb-girdle |
| RS1562498114 |
EYA4
|
Health Risk |
Pathogenic |
Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J |
| RS1562499077 |
DNAH11
|
Health Risk |
Conflicting classifications of pathogenicity |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1562502139 |
HYCC1
|
Health Risk |
Likely pathogenic |
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS1562505335 |
HIVEP2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 43 |
| RS1562505675 |
HIVEP2
|
Health Risk |
Pathogenic |
Intellectual disability, autosomal dominant 43 |
| RS1562505728 |
EYA4
|
Health Risk |
Likely pathogenic |
Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10 |
| RS1562512707 |
LAMA2
|
Health Risk |
Likely pathogenic |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS1562515878 |
CYCS
|
Health Risk |
Pathogenic |
Thrombocytopenia 4, Thrombocytopenia 4 |
| RS1562519380 |
PRKN
|
Health Risk |
Pathogenic |
Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2 |
| RS1562520885 |
DNAH11
|
Health Risk |
Pathogenic/Likely pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS1562521048 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1562523328 |
ENPP1
|
Health Risk |
Likely pathogenic |
Arterial calcification, generalized |
| RS1562530132 |
LAMA2
|
Health Risk |
Likely pathogenic |
Congenital muscular dystrophy, Congenital muscular dystrophy |
| RS1562551396 |
LFNG
|
Health Risk |
Pathogenic |
Spondylocostal dysostosis 3, autosomal recessive |
| RS1562563770 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia |
| RS1562567739 |
TBX20
|
Health Risk |
Pathogenic/Likely pathogenic |
Cardiovascular phenotype, Cardiovascular phenotype |
| RS1562567814 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1562581016 |
LAMA2
|
Health Risk |
Conflicting classifications of pathogenicity |
LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy |
| RS1562581261 |
LAMA2
|
Health Risk |
Pathogenic/Likely pathogenic |
LAMA2-related muscular dystrophy, Muscular dystrophy |
| RS1562581286 |
PKHD1
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4 |
| RS1562582216 |
BRAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures |
| RS1562582288 |
BRAT1
|
Health Risk |
Conflicting classifications of pathogenicity |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1562587032 |
KIAA0825
|
Health Risk |
Pathogenic/Likely pathogenic |
Autosomal recessive nonsyndromic postaxial polydactyly, Polydactyly |
| RS1562590250 |
DNAH11
|
Health Risk |
Pathogenic |
Primary ciliary dyskinesia, Primary ciliary dyskinesia 7 |
| RS1562592874 |
GHRHR
|
Health Risk |
Pathogenic |
— |
| RS1562595388 |
CCN6
|
Health Risk |
Pathogenic/Likely pathogenic |
Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia |
| RS1562596651 |
BRAT1
|
Health Risk |
Pathogenic |
Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures |
| RS1562598658 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1562599153 |
CCN6
|
Health Risk |
Pathogenic |
Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia |
| RS1562603622 |
CRPPA
|
Health Risk |
Conflicting classifications of pathogenicity |
— |
| RS1562604682 |
PMS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1562605623 |
PMS2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4 |
| RS1562606449 |
GHRHR
|
Health Risk |
Pathogenic |
Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB |
| RS1562614305 |
LAMA2
|
Health Risk |
Likely pathogenic |
LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy |
| RS1562614946 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1562615123 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1562615196 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast |
| RS1562615666 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Lynch syndrome, Hereditary cancer-predisposing syndrome |
| RS1562616355 |
PMS2
|
Health Risk |
Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4 |
| RS1562626011 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1562626070 |
PMS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Mismatch repair cancer syndrome 4 |
| RS1562626121 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Lynch syndrome 4 |
| RS1562626204 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1562629003 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1562629043 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome |
| RS1562630820 |
PMS2
|
Health Risk |
Conflicting classifications of pathogenicity |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1562632035 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4 |
| RS1562633172 |
PMS2
|
Health Risk |
Pathogenic/Likely pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1562633331 |
PMS2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Lynch syndrome |
| RS1562634268 |
PMS2
|
Health Risk |
Likely pathogenic |
Lynch syndrome, Lynch syndrome |
| RS1562634737 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1562635799 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4 |
| RS1562636427 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms |
| RS1562643321 |
SYNE1
|
Health Risk |
Pathogenic |
— |
| RS1562644987 |
PMS2
|
Health Risk |
Pathogenic |
Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms |
| RS1562648373 |
FIG4
|
Health Risk |
Pathogenic |
Charcot-Marie-Tooth disease type 4J, Yunis-Varon syndrome |
| RS1562648414 |
FIG4
|
Health Risk |
Pathogenic/Likely pathogenic |
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1562650465 |
SKIC2
|
Health Risk |
Pathogenic |
— |